Mental Retardation and Autism Spectrum Disorders

1. Introduction to the Pervasive Developmental Disorders

  • Pervasive developmental disorders were first introduced into the DSM III. Many refer to this diagnostic taxonomy as autism spectrum disorder (ASD) because both are depicted as disorders affecting a child's social, communicative, emotional, and cognitive development; however, the current DSM-IV-TR strictly refers to them as Pervasive Developmental Disorder (PDD) (Hoffman, 2009). PDDs are classified as a group of conditions where there is a delay in the development of communication and social skills. Behavioral differences/problems are also present. Parents may notice that their children play with their toys differently than the other children do or that they make repetitive movements. Parents may also notice that their children are not "up to par" on the language level as they should be. The child may seem to lag behind others within their peer group in language production and comprehension. They might play alone instead of with the other children. This lack of socialism could be connected to the lack of communication. A child might just seem "shy" but in reality cannot produce language normally. Some children may talk a little or not at all, while others show only a small deficit in language skills. Individuals determined to have a PDD not only exhibit problems in social interaction and communication but may exhibit stereotyped behaviors, interests, and activities. The individual's developmental level or mental age is considered to be deviant compared to that individual's biological age. However, the individual's intelligence may be difficult to gauge due to communication problems. Under PDD, the DSM-IV-TR holds five subtypes: autism, Asperger's disorder, Rett's disorder, childhood disintegrative disorder (CDD), and PDD-NOS (not otherwise specified). The key distinguishing features lie in how the domains are affected, the age of onset, gender differences, the course of the disorder, and prognosis (Hoffman, 2009).
  • Brief overview of Pervasive Developmental Disorders and the difficulty of diagnosis.
  • High Prevalence of Pervasive Development Disorders
    • PDD, in children and adolescents, are among the most common and disabling disorders (Sasayama, 2009).
    • The high prevalence of these disorders have amplified the need to improve the management in children and adolescents (Sasayama, 2009).
    • New protocol guidelines have been implemented to assist primary care doctors to recognize the need for a mental health consultation if the PDD seems severe or if comorbities are present (Sasayama, 2009).
  • Comorbidity and Depression
    • Studies have shown emerging evidence that PDD patients are most likely to also carry depression with their disorder (Sasayama, 2009).
    • Children and adolescents who had such severe depression that it required medical treatment with antidepressants may be comorbid with PDD (Sasayama, 2009).
    • PDD symptoms must always be assessed when treating depression in children and adolescents (Sasayama, 2009).
  • Deficits in understanding the mental state of others or “mind-reading” have been well documented in individuals with pervasive developmental disorders. However, this deficit in social cognition differs between the subgroups of PDD defined by the Diagnostic and Statistical Manual of Mental disorder, Fourth Edition, Text Revision. PDD can be divided into high-functioning autistic disorder (HFA) and other PDD consisting of Asperger's disorder and PDD-NOS. A recent study suggest that social cognition differs significantly between individuals with HFA and those with other PDD. Neither the auditory or visual modality was found to be dominant in subjects with PDD in the mind-reading task. Taken together, complex mind-reading tasks appear to be effective for distinguishing individuals with HFA from those with other PDD (Kuroda, Wakabayashi, Uchiyama, Yoshida, Koyama, & Kamio, 2011).
    • Treatments
    • There is no cure for Pervasive Developmental Disorders but there are treatments available to ease symptoms. Behavioral therapies are more common than medications due to the side effects of the drugs. There are some long-term adverse events caused by risperidone in children, adolescents, and adults with Pervasive Developmental Disorders and intellectual disability. One study examined the side effects of this treatment drug and found a range of significant neurological side effects had occurred: akathisia in 10%, 2 individuals developed tardive dyskinesia, 1 developed oculogyric crisis; withdrawal dyskinesia occurred in 2 of 9 individuals discontinuing risperidone. All children and adolescents in the study continued greater than 7% weight gain. Adults gained less weight, but 2 developed Type 2 diabetes. Movement side effects were also significant (Hellings, Cardona, & Schroeder, 2010).
    • Weighted vests are a specific form of Sensory Integration Therapy (SIT) (Honaker, 2005) that are intended to help individuals resolve sensory related issues thereby decreasing the symptoms (e.g., hyperness, lack of attention, etc.) of the sensory issue and are also often recommended as an intervention for problem behaviors exhibited by children with Pervasive Developmental Disorders (PDD). The effects of 5% and 10% total body weight vests on problem behaviors in children with PDD were investigated during functional analysis conditions (Iwata, Dorsey, Slifer, Bauman, & Richman, 1982/1994). Though results indicated there was no functional relationship between the SIT of 5% or 10% weighted vests and participants' problem behaviors, a further analysis indicated there was a functional relationship between the problem behavior and the operant-based intervention of functional communication training. Thus, though the problem behaviors appeared to be unresponsive to SIT (i.e., weighted vests) these same problem behaviors could be altered with interventions that have been grounded in rigorous, empirical scientific research findings (Quigley, Peterson, Frieder, & Peterson, 2011).
    • Social skills deficits are a defining feature of individuals diagnosed with autism and other pervasive developmental disorders (PDD), which can impair functioning and put the individual at higher risk for developing problem behavior (e.g., self-injury, aggression). Adolescence with PDD often display inappropriate social behavior (inappropriate comments, social withdrawal, and touching others without their permission) during social interactions. An intervention using instructions, differential reinforcement, and corrective feedback has been shown to successfully reduced inappropriate social behaviors (Hagopian, Kuhn, & Strother, 2009).
    • Learning with Pervasive Developmental Disorders
      • Most Pervasive Developmental disorders contain learning deficits. The main problem with teaching children with Autism is accurate communication between the child and the instructor and maintaining the child's attention. This is why most teaching techniques tend to be behaviorially focused instead of cognitive.
      • The Errorless Learning technique is a method of teaching focused on the reduction of incorrect answers. The examples of this are stimulus fading, stimulus shaping, delayed prompting, response prevention, superimposition with fading and superimposition with shaping. Stimulus fading is the gradual increasing the dimensions of the distracters (incorrect answers) to be similar to the target (correct answers). Stimulus shaping is making physical changes to the target and distracters over the trials such as gradually changing known letters into unknown letters over successive trials by changing their shape. Delayed prompting is the gradual delay of the onset of a prompt that identifies the target such as providing immediate indication of the target and then gradually delaying indication. Response prevention is physically preventing the learner from responding to the distracters such as physically blocking responses to the distracters until the learner responds independently to the target. Superimposition with fading is superimposing physical prompts and using stimulus fading such as adding pictures to accompany sight words cards and then gradually reducing the size until the pictures are no longer visible. Superimposition with shaping is superimposing physical prompts and using stimulus shaping such as teaching a child to respond to known pictures in the presence of unknown words and then changing the pictures gradually into the pictures of the unknown words.
      • The Competent Learner Model was developed to address the needs of teachers, administrators, and paraprofessional staff to enhance delivery of instructional programs and services for children and youth with pervasive developmental disabilities. The main focus of the Competent Learner Model is to teach learners to become competent observers, listeners, talkers, problem solvers, participators, readers, and writers. Simply put, it is a method that teaches learning-to-learn competencies. This method also has the common goals of behavioral interventions such as increasing attention, play, social, self-help, academic, and language skills and to decrease stereotypic, annoying, injurious, disruptive, and destructive behaviors. The Competent Learner Model is not only used in class rooms but is also suggested to be used by caretakers in the home. The seven parts of the Competent Learner Model that are focused on developing are skills in observing, listening, reading, writing, problem solving, and participating.
      • Visually cued instruction involves the use of pictographic and written language as instructional supports in both structured and natural learning contexts. People with Autism are known for their weaknesses in abstract thinking, social cognition, and communication. Visually cued instruction attempts to play on the strengths of people with Autism such as areas of concrete thinking, rote memory, and understanding of visuo-spatial relationships. Hermelin and O'Connor's (1970) work on Autistic children's ability to process visuo-spatial information and auditory-temporal information. They found that auditory-temporal information was much more difficult for Autistic children to process than visuo-spatial information. Experiments have shown that the more time a stimulus remained fixed in space improve the ability to encode and organize the information in children with Autism. Other works seem to agree with this finding by reveling that Autistic children perform best on tasks such as form discrimination, matching, copying exact duplications, and puzzle assembly, all of which involve visual stimuli that remain present at all times (DeMyer, 1975).
      • Durkin (2010) provided an accumulation of research from several studies that shed positive light on the advantages of learning via videogames for children diagnosed with Autism. Such studies "[exploit] the attraction of screen displays to children with autism, all the more notable given the difficulties with language development experienced by many children with this disorder" (Durkin, 2010). He pointed out that children with autism who took part in the experiments learned more words from a computerized game versus teacher instructions. Videogames may also provide a focus for peer discussion and the exchange of information amongst children with this disorder.

2. Autistic Disorder (299.00)

  • Introduction
    • Autism is the most commonly studied of a spectrum of developmental disorders that are believed to be neurobiologically based but which, at this point, for lack of good biomarkers, are defined purely by behavior. In the last 20 years, the definition of autism has shifted in emphasis from extreme aloofness and positive signs of abnormality in repetitive and sensorimotor behaviors to a greater awareness of the importance of more subtle reciprocal social communication deficits as core features. Standard diagnostic instruments were developed for research purposes to acquire information both through caregiver interviews and direct clinical observation. Use of these instruments in clinical practice resulted in major improvements, which in turn affected research results. These results yielded further improvements that led to changes in clinical practice over time (Lord, 2010).
    • Autistic Disorder is referred to several different ways including early infantile autism, childhood autism, or Kanner's autism.
    • Autism is the most representative type of PDD, as well as the most researched. This subtype was first characterized by Leo Kanner in 1943 (Hoffman, 2009).
      • He reported several principal distinctions of the disorder, to include the following:
      • inability to relate socially
      • inability to convey meaning through language
      • insistence on sameness in daily routines.
      • He also asserted that this disorder was innate, which reflects our current research on the heritability of autism.
  • DSM-IV-TR criteria
    • A. A total of six (or more) items from (1), (2), and (3), with at least two from (1), and one each from (2) and (3):
    • 1. Qualitative impairment in social interaction, as manifested by at least two of the following:
      • Impairments in social interaction may include the following (Hoffman, 2009):
        • Pronounced deficits in non-verbal social behavior
          • Lack of eye contact
          • Facial expressions
          • Body posturing
          • Gesturing
        • Lack of age-appropriate peer relationships
          • Possibly interacting with parts of people
        • Absence of spontaneous attempts to share interests or pleasure with others
          • Not pointing to or showing things to others
        • Lack of social/emotional reciprocity
          • Lack joint attention
          • Fail to share actively with other's activities or interests
          • Act as if unaware of the presence of others
          • Select solitary activities
    • 2. Qualitative impairments in communication including both verbal and nonverbal communication, as manifested by at least one of the following (Hoffman, 2009):
      • Delay or absence in spoken language
        • not compensated for by attempts to communicate nonverbally
      • Inabiliy to converse appropriately with others regardles of the presence of speech
      • Odd, stereotyped, repetitive uses of language
      • Absense of imaginative or pretend play
      • There is also a great deal of variability in communication.
        • Ranging from the absence of expressive or receptive language to fluent speech with semantic/inappropriate social uses.
        • Echolalia is the repetition of a phrase heard in the present or the past.
          • Occurs in up to 75% of individuals with PDD who are verbal
            • This characteristic is a cardinal feature of autism.
        • Receptive language continues to impair social communication in that individuals have difficulties in understanding abstractions.
          • Echolalia and receptive language are not utilized in a functional communicative fashion by those with autism.
    • Restricted and stereotyped behavioral patterns require at least one of the following criterion (Hoffman, 2009):
      • Restricted interests that are abnormally intense
        • Can range from cars and trains to numbers and letters
        • Inappropriately intense or odd in their content
      • Rigid adherence to routines or rituals
      • Repetitive motor mannerisms
        • Opening and closing doors
      • Preoccupation with parts of objects
        • May become overly interested in moving parts of objects
      • Compulsive behaviors
        • Lining up objects in a specific way
        • Slight alterations in routines can cause behavioral outbursts
      • Motor stereotypes
        • Hand or finger-flapping
        • Rocking
        • Spinning
      • Non-specific motor abnormalities
        • Toe walking
        • Unusual hand movements or body postures
      • Continuous course for those with autism however, school-aged children may show improvements in social, play, and communicative functioning, which ultimately can improve further intervention.
  • B. Delays or abnormal functioning in at least one of the following areas, with onset prior to age 3 years: (1) social interaction, (2) language as used in social communication, or (3) symbolic or imaginative play.
  • C. The disturbance is not better accounted for by Rett’s Disorder or Childhood Disintegrative Disorder.
  • Associated features
    • Children tend to be diagnosed with autism at a fairly young age due to early signs and symptoms
      • Usually, during the first three years, the child starts to exhibit autistic actions.
    • Children with autism tend to have difficulties with attention, concentration, and behavior.
    • Sometimes, the behavioral problems the child displays could consist of things such as self-injurious behavior (e.g. biting oneself, slapping, hair pulling, or head banging) or aggression towards others (e.g. biting others, ).
      • Self-injurious behavior may be more linked to mental retardation.
      • Symptoms can generally be seen before 12 months, but at least by 24 months.
    • Distinguishing between current and lifetime symptoms is very important.
      • One has to consider the developmental appropriateness of behavior.
      • Research suggests that imaging studies may be abnormal in some cases but there has been no distinct pattern to suggest this is the most valuable resource available to diagnose Autistic Disorder in an individual.
      • EEGs are often are useful in detecting abnormalities in these individuals even in the absence of seizure disorders.
    • Many individuals with autism might struggle with social interaction.
      • “Simple” social interactions tend to be more difficult for autistic individuals.
        • Sharing information or feelings with others are found to be very uncomfortable and uneasy for autistic individuals.
      • Individuals with Autistic Disorder often take speech literally.
        • For example, if one were to say that it is raining cats and dogs, the autistic individual would expect for it to literally be raining cats and dogs.
        • It is often difficult for an individual with autism to interpret humor in normal social conversations due to the lack of communication skills that they possess.
        • Significant impairments in eye-to-eye contact, facial expressions, body posture, and gestures make it extremely difficult for a person with autism to maintain social interactions and communication with their peers.
        • Failure to develop relationships with peers sometimes results in the formation of others that are inappropriate to the autistic individual's developmental level.
    • Speech can be difficult for people with autism and may come in various forms
      • echolalia (the involuntary repetition of words spoken by another person)
      • unusual word use
      • irregular syntax
        • Impairments in pitch, intonation, rate, or rhythm
        • stress placed on certain words may also be abnormal
        • Nonverbal cues tend to be misunderstood
    • Related symptoms of Autism
      • Lack of eye contact
      • slow developmental skills
      • indicating needs by gestures
      • resistance to change in routine
      • hyperactivity or extreme passivity
      • resisting cuddling
      • "standoffish" attitude
      • eating disturbances
      • resisting learning
      • no fear of real dangers
        • exhibiting abnormal fears of everyday objects related to sensory experiences (e.g. trains)
        • display over and under reaction to sounds with a hypersensitivity to certain textures
      • out of place laughing or crying
      • inappropriate attachment to objects
      • basic difficulties
        • (e.g. sleeping)
      • requiring less sleep for normal functioning
        • Lack of sleep disturbances or need for sleep seems to improve over time, but more research is needed
      • not demonstrating affection easily
      • savant abilities
      • expression or frustration through self-injury like head banging
        • could be a closer link to mental retardation. .
      • Eating disturbances
        • unusual food rituals and preferences
        • continue to adulthood
        • People with autism display over and under reaction to sounds with a hypersensitivity to certain textures
      • High pain tolerance
      • exhibit primitive reflexes, delayed development of hand dominance, and other nonspecific neurological symptoms
      • Particularly in adolescence, as many as 25% of the cases diagnosed with autism may develop seizures.
    • Blueler first used the term "autism" to describe schizophrenics who had lost touch with reality.
      • Mothers and fathers are seen as responsible for the development of the disorders and are described as "refrigerators" and "freezers."
        • Calling the parents of Autistic children "refrigerator mothers" and "freezer fathers" was in attempts to describe their personalities towards their children as cold and emotionless therefore leading to the child's disorder.
      • There have been group deficits in affecting social, affective, linguistic, behavioral, and cognitive development.
      • Prior to age three, there are delays in social interaction, language as used in social communication, and symbolic or imaginative play.
        • There are deficits in social abilities that seem to be due to impairments in understanding and responding to social information. Also impairments in imitative abilities, both immediate and deferred, have been linked to expressive language deficits later.
        • There are joint attention skills that are impaired compared to others of the same intelligence and decreased orientation to stimuli, especially social.
        • Facial perception is also impaired, and people with autism are less likely to recognize someone they have already seen.
          • A person with autism may focus on abnormal areas of the face, like looking at a person's mouth instead of in their eyes when communicating.
        • Delays in language precursors cause significant problems with language such as echolalia, abnormal prosody, and pronoun reversal or only using names later in life.
        • Social or pragmatic language is most impaired such as using irrelevant details, preservation, inappropriate shifts in topics or ignoring social cues and intentions of the other person in conversation may be due to "mind-blindness."
      • People with relatives that are autistic are more likely to also ignore social cues such as being unable to detect when another person needs or wants to leave a conversation.
      • Individuals with Autistic Disorder often lack the ability to interpret slang phrases in normal conversations.
        • For example, if someone were to say that it is raining cats and dogs, an autistic individual may believe that it is literally raining cats and dogs.
        • An individual with Autism will take everything that is said in a conversation literally which, unfortunately, makes communication even more difficult.
    • Kanner and Asperger described different types of autistic children in the 1940s.
      • Asperger saw deficits in pronoun reversal, echolalia, and social interaction problems.
      • Kanner saw the same deficits with language problems added.
        • Early signs are affective, social, behavioral, and cognitive development. Impairments in understanding and responding to social information and there are secure attachment patterns that are seen in 40 to 50 percent of autism children, contrasting with 65 percent in the general population.
        • Imitative abilities have been linked to different disorders later in development.
    • There has been some talk of autistic children possessing special talents and abilities due to their condition.
      • Musical ability, math skills, and reading/writing abilities have all been publicized.
        • Though all of these abilities have appeared in autistic children, it is pretty rare.
        • When these skills do appear, they seem to be caused not by increased mental ability but from lack of social skills causing an increased ability to concentrate.
          • With no other distractions, the increased attention span allows the child to learn to full ability.
    • People who report higher degrees of autism traits also report experiencing increased difficulties with executive control.
      • In addition, ASD and ADHD traits were associated with unique contributions to the executive control profile of individuals with subthreshold autism symptomatology (Christ, Kanne, & Reiersen, 2010).
    • It is sometimes difficult to diagnose autistic symptoms masked by intellectual disabilities.
      • Research on the prevalence of autism in Iceland has indicated that one possible explanation of fewer autism cases in older age groups was due to an underestimation of autism in individuals with intellectual disabilities (IDs).
      • The study identified twice the number of autism cases than those previously recognized within the service system.
      • Autism is a prevalent additional handicap in individuals with severe ID, which should always be considered in this population (Saemundsen, Juliusson, Hjaltested, Gunnarsdottir, Halldorsdottir, Hreidarsson, et al., 2010).
  • Cognitive disabilities are not part of the DSM-IV-TR criteria; however, most children with autism suffer from mild to profound mental retardation (Hoffman, 2009).
    • Nonverbal skills are superior to verbal skills
    • Irregular and variable allocation of cognitive abilities
    • Can be comorbid with conditions causing mental retardation
      • Fragile X Syndrome
      • Tuberous Sclerosis
    • Females with autism suffer more severe mental retardation
    • Seizure disorders are common in autism and other PDDs
    • Evidence that head circumference is normal at birth and results in macrocephaly (larger head) by 6-12 months
      • Abnormal response to stimuli
        • Hypersensitivity to noise
        • Decreased sensitivity to pain
  • Facial recognition is usually impaired (Hoffman, 2009).
    • Evidence of decreased activation of the fusiform region and amygdala when perceiving faces
    • Several studies show evidence of children diagnosed with autism spend more time focusing on individual's mouths and bodies vs. eyes, thus causing them to miss social cues.
  • Child vs. adult presentation
    • Children tend to be diagnosed at a very young age
      • extremely rare to diagnose an adult with autism
      • Autism is a lifelong disorder.
        • The MMR vaccinations given to some children presumably caused autism
          • no concrete evidence to support that theory
        • Currently in the United States, 300,000 individuals have autism
        • 270,000 are thought to be young children
        • Approximately 14,000 older children
        • An estimated 22,000 adolescents and adults
    • some other prevalence rates in the overall population for autism tend to be shown in ways such as:
      • 90% of costs are in adult services
      • 1 in 150 births are autistic
      • 1.5 million Americans may be affected with autism
      • 10-17% annual growth.
      • 1 to 2 per 1,000 in children
      • 60 cases per 10,000 children
    • Parents often mistake autism in infants as deafness due to the following characteristics:
      • failure to cuddle
      • indifference or aversion to physical contac or facial responsiveness, or smiles
      • failure to respond to parents' voices.
    • There is no period of unequivocally normal development
      • Almost 20% of parents report normal development for 1 to 2 years
        • Often appear to stagnate developmentally
        • Normal development of vocabulary is limited.
      • Young children may treat adults as interchangeable, cling to a specific person, or use a parent's hand to obtain objects without ever making eye contact
      • Over time, the child may show increased interest in social interaction, although still treating people in the usual ways.
      • In others, tasks involving long-term memory may be excellent, but the information tends to be repeated regardless of its appropriateness.
      • Children and adolescents have difficulty in their ability not only to communicate verbally but also have problems with written expression.
        • It is difficult for them to interpret written language, analyze, and then respond to what they have heard which makes educating an autistic child extremely challenging.
    • Twin and family studies have established that there is a strong genetic basis for autism spectrum disorders. To facilitate the identification of susceptibility genes and to study pathways from gene-brain to cognition a more refined endophenotype-based approach may be useful. The neurocognitive endophenotype of autism was examined in families with multiple incidence autism. Children with autism showed weak central coherence but this "trait" could not be found in their parents nor in non-affected siblings. All family members, including the sibpairs with autism, showed deficits within executive functions, involving planning ability, but normal set-shifting. The sibpairs with autism--but not their other family members--showed significant correlations within two visuo-spatial tasks. Deficits in executive functions (specifically planning ability) appear to characterize the broader endophenotype of autism (Nyden, Hagberg, Gousse, & Rastam, 2011).
    • Motor skills were assessed in toddlers and it was demonstrated that atypically developing toddlers exhibited significantly greater motor skill abilities than toddlers with autistic disorder. No significant difference on gross or fine motor skill abilities were found between atypically developing toddlers and toddlers with pervasivedevelopmentaldisorder-not otherwise specified (PDD-NOS), or between toddlers with autistic disorder and toddlers with PDD-NOS. Gross and fine motor skills were found to be more impaired for toddlers with autistic disorder compared to the atypical development group. Furthermore, differences in gross or fine motor skills between the autistic disorder and the PDD-NOS group approached significance. (Matson, Mahan, Fodstad, Hess, J., & Neal, 2010).
    • There is a relationship between child symptom severity, parent broader autism phenotype (BAP), and stress and depression in parents of children with ASD. Parents reported elevated parenting stress and depression relative to normative samples. A path analysis indicated that both child symptom severity and parent BAP were positively correlated with these outcomes. The relationship between BAP and the outcome measures was partially mediated by maladaptive coping and social support and the relationship between child symptom severity and outcomes was partially mediated by social support (Ingersoll, & Hambrick, 2011).
  • Gender and cultural differences in presentation
    • Autism is more prevalent in boys than in girls with a 3 or 4:1 ratio, although females exhibit more severe mental retardation. Autism knows no “ethnic boundaries” because it is seen throughout the World. In some studies; however, some countries have higher percentages of autism. It is noteworthy that in one study Denmark and Finland were at 29.5% and 18% as two of the highest countries with autism in that one study. Autism is found throughout an assortment of geographical locations, social groups, and ethnic groups. Females tend to have lower intellectual functioning and more severe symptoms. Higher functioning females, however, show less severe symptoms than matched males.
    • The rates for autism is also affected by the size of the population, with larger populations having more cases of the disorder such as the U.S.
  • Epidemiology
    • In 1996 it is reported that 1 in 10,000 people were diagnosed with autism with a rate of 10-17% annually. About 10% of those with autism are savants. Autism is sometimes resembled by developmental language disorder and childhood-onset schizophrenia. Co-morbidity rates vary greatly by disorder and reveal that 40-69% have mental retardation, widely varied rates of depression and anxiety. The diagnosis of Mental Retardation in individuals with Autism can range from mild to profound. Tic behaviors are more common than in the population and high rates of seizure disorders also. Population estimates range from 16-62 per 10,000 across all PDDs. Most parents report symptoms before 12 months, but average diagnosis is at four years. There are instruments for early screening available but have their limitations. There is a lack of transition from university based to school based intervention programs that has hampered early intervention programs.
    • The onset of Autistic Disorder is prior to age three. Some parents will report being worried about the child since birth or shortly thereafter. In some cases, the child may have been developing normally during the first year. Autism has a continuous course. In children, developmental gains in some areas are common, but some individuals deteriorate during adolescence. Language skills and intelligence are the strongest factors related to prognosis. Only a small percentage go on to work and live independently. In about one-third of cases, some degree of partial independence is reached. Many facilities to improve daily living skills have been developed in order to teach those with Autistic Disorder daily living skills to provide a higher quality of life and independence. The highest functioning with Autism usually continue to show problems with social interaction and communication with restricted interests.
  • Etiology
    • Genetic factors appear to have a large effect on autism. Most autistic children inherit autism from their parents. There is an increased risk for autism among siblings of the individual with this disorder. It has been found that approximately 5% of siblings are also afflicted with this condition and may also be at higher risk for developmental delays.
    • Environment is a huge cause of autism. Exposure to chemicals in the environment are “neurodevelopmental toxins” for the baby.
      Mercury, polychlorinated biphenyls, lead, brominated flame retardants and pesticides are all chemicals that with exposure could cause harm to a child. People with relatives that have autism are more likely to be autistic. There are two courses typically seen that include a symptom onset before twelve months, and a regular development followed by a loss of skills or regression before three years, primarily language. Seventy-five percent will not live independently, even with early interventions. High IQs and early development of social communication skills are related to better prognosis. Effective programs have high levels of family involvement, strategies for generalizing learned skills with a functional approach to problem behaviors. There is also common curriculum focusing on attention/compliance, motor imitation, communication, appropriate toy use, and social skills. There are high structured environments with low student-to-staff ratio.
    • Contrary to widespread beliefs in certain communities, there is no link between childhood vaccinations and autism. Indeed, in 2010 the British medical journal The Lancet retractedthe original 1998 paper by Andrew Wakefield that raised the possibility of a connection, citing concerns about ethical violations. In particular, Wakefield was found to have "been dishonest, violated basic research ethics rules and showed a “callous disregard” for the suffering of children involved in his research." For more, please visit this NY Times article.
  • Empirically supported treatments
    • Pivotal Response Training (PRT) has been seen as an effective treatment for children with autism. The effectiveness of PRT increases the earlier the child begins the treatment (ideally before the age of four). PRT focuses on enhancing the relationship between social communication responses and the consequent reinforcers of such responses appear to increase behaviors characteristic of motivation and improve environmental and social interactions (Kazdin, 2003).
      Interventions in which the child responds to a combination of maintenance and acquisition tasks, as seen in PRT, have resulted in improved correct responding (Dunlap, 1980), increased rate of target behavior acquisition, and positive child affect (Dunlap, 1984).
    • In children: parents, teachers, and therapists work together in efforts to help social adjustment and speech development. Typically, autistic children that are lower functioning are placed in a self-contained classroom in order to receive instruction which encompass daily living skills as well as general education. The eduction is adapted to each individual child's developmental age with the goal to reach their biological age.
    • Behavioral treatment therapies should include clear instructions, performance of specific behaviors, immediate praise and rewards for performing the specific behaviors, gradual increase in complexity of behaviors, and definition of when and when not to perform the behaviors. Techniques such as redirection are used to combat negative behaviors both inside and outside the classroom in order to focus an autistic individual to perform the task at hand.
    • A loving and supportive family is important. Parents should be involved in treatment therapies. Good communication between the family, therapists, and educators are essential. It is important for the parents to be involved in the creation of an individual education plan (IEP) in order to set goals for their autistic child. This allows both parents and educators to be on the same page as to the steps they will take in order to achieve these goals. It is vital that tasks and behavior reinforcements maintain consistency between home and school.
  • Empirically supported diagnostic tools
    • Autism can be separated into high functioning (HFA) and low functioning (LFA). Some of the instruments used to diagnose autism are the Checklist for Autism Spectrum Disorder (designed for children with LFA and HFA), Childhood Autism Rating Scale (CARS) for children with LFA, and Gilliam Asperger's Disorder Scale (GADS) with HFA. For children with LFA, classification accuracy was 100% for the Checklist and 98% for the CARS clinician scores. For children with HFA, classification accuracy was 99% for the Checklist and 93% for the GADS clinician scores (Mayes, Calhoun, Murray, Morrow, Yurich, Mahr, et al., 2009).
  • Experimental Psychology and Autism
    • Ropar, Mitchell, and Ackroyd (2003) performed an experiment to determine if children with autism had difficulty making alternative interpretations to ambiguous figures. The researchers had participants complete three different types of tasks. One of these types was an example of a theory of mind task. Ropar et al. (2003) showed participants a picture of a flower mostly covered up with a piece of paper that had a small square cut out of it. The square window displayed only a few lines of the flower drawing. Participants were asked what they thought the picture depicted. After the participants answered, the researchers uncovered the flower and again asked participants what they thought the picture was. Next, the researchers covered the flower drawing up with the paper mask, so that the square window again only showed a small portion of the picture. Participants were then asked what a friend might think the picture was of. Participants passed the theory of mind task if they correctly answered that another person would not know that the mostly covered picture was a flower. Participants did not pass the theory of mind task if they stated that another person would know that the picture was a flower (Ropar et al., 2003). The participants in this experiment were children with autism, children with moderate learning difficulties, and children of typical cognitive development. Results from the researchers’ experiment indicated that few children with autism provided correct answers on this task, while each child in the control group answered correctly (Ropar et al., 2003). These results suggest that children with autism have difficulty perceiving others people’s personal mental space.
    • It is important to examine practical applications of previous and current research on mental space, ambiguous figures, and theory of mind. For example, autism is a neural developmental complication characterized by constrained social interaction and communication. Research may indicate that children with autism have difficulties with ambiguous figure reversals and theory of mind tasks, which are related to impaired social skills (Gopnik & Rosati, 2001). Specifically, it has been postulated that social withdrawal in children with autism is correlated to lack of fixation on faces (Riby & Hancock, 2009). In a recent study, Riby and Hancock (2009) used a Tobii 1750 eye-tracker to record the fixation duration on faces by participants with and without autism. The researchers had participants view two kinds of pictures displayed on a computer screen. The first set of pictures depicted natural landscapes. Half of these pictures contained only landscapes, while the other half had small faces embedded in the scene (Riby & Hancock, 2009). The second set of pictures depicted scenes with people in them that had been scrambled so that each square was a piece of the picture, but out of order (Riby & Hancock, 2009). The experimenters’ results indicated that participants with autism made significantly shorter face fixations than participants that were typically developed.
    • Eye fixation research has many applications in psychology. Eye-tracker devices can measure eye fixations on different cognitive tasks such as processing linguistic information, reading, problem solving, processing spatial information, and processing real-world scenes (Just & Carpenter, 1976). Other research with eye-trackers has shown that adults of normal cognitive functioning fixate mostly on the eyes when viewing faces (Walker-Smith, Gale, & Findlay, 1977). However, people with autism tend to spend less time fixating on the eyes and other defining features of faces (Boraston & Blakemore, 2007). According to Boraston and Blakemore (2007) “… eye-tracking could be a way of closing the gulf between performance on cognitive tests and everyday social ability of individuals with autism” (p. 895).
    • Impaired performance in a range of imitation tasks has been described in children with autism spectrum disorders (ASD) and several underlying mechanism have been suggested. It has been examined whether imitation abilities are related to autism severity and to motor skills. Furthermore, the performance of children with ASD in four imitation situations (body movements and "action on objects", using meaningful and non-meaningful tasks) was compared. Comparison of the four imitation situations revealed that performances of meaningful actions were better than non-meaningful actions and imitation of "action on objects" was better than imitation of body movements. The current research supports the fact that socio-communication deficits and not motor abilities are linked to imitation abilities in young children with autism (Zachor, Ilanit, & Itzchak, 2010).
    • Atypical forms of autism may yield insights into the development and nature of the syndrome. A study of nine congenitally blind and seven sighted children who, eight years earlier, had satisfied formal diagnostic criteria for autism and had been included in groups matched for chronological age and verbal ability. A substantially higher proportion of blind (eight out of nine) than sighted (none out of seven) children now "failed" to meet formal DSM criteria for autism. Follow-up of nine congenitally blind children with autism revealed that, in adolescence, only one still satisfied diagnostic criteria for the syndrome (Hobson & Lee, 2010).

  • Parents of a severely autistic child recount the difficulties of raising their son. This particular story begins at minute 38
  • Discussion on the causes and research of the autism spectrum. Guests: child psychiatrist and father of an autistic son, Dr. C.T. Gordon; Kay Cullinen, speech pathologist; and Colorado State University professor and author, Dr. Temple Grandin, who was diagnosed with autism as a child.
    • Autism Spectrum
    • "Autism." The Diane Rehm Show. American University Radio. April 5, 2000
  • Interview with Temple Grandin. After she was diagnosed with autism as a child, her parents were told to have her institutionalized, which they refused to do. Today, Temple is a professor at Colorado State University and has written multiple books about the similarities between autistic thought-processes and animal behavior.
  • Where are we with the Autisms? 2009 - What point are we at with autisms?
  • The Autism Spectrum Disorders: Beyond Behavior Autism Spectrum Disorders
  • Autism signs, symptoms often missed by parents.
  • Journal article "Researchers pinpoint potential cause of Autism"
  • What does a person with autism look like? How do they act? View this YouTube video and find out.
  • Click Here to view an excerpt from an MTV series, "True Life: I have Autism". This episode follows three individuals who have varying degrees of Autism.
  • Kim Peek was an American savant with a pervasive developmental disorder. He did not have autism, though he was the inspiration for the character with autism (Raymond Babbitt) in the film "Rain Man". The following links are part of a five part video clip series. Only four are displayed.
    • Kim Peek: The Real Rain Man 2/5
    • Kim Peek: The Real Rain Man 3/5
    • Kim Peek: The Real Rain Man 4/5
    • Kim Peek: The Real Rain Man 5/5
  • Additionally, since some people with autism do seem to be savants, here is a video of Stephen Wiltshire, an artistic savant with autism.
  • Read this article over the variations in autism here

3. Childhood Disintegrative Disorder (299.1)

  • Introduction
    • This disorder is also known as Heller's syndrome for the educator Theodore Heller who discovered the disorder in 1908 (Hoffman, 2009).
    • However, the research on this disorder is limited and rare.
  • DSM-IV-TR criteria
    • A. Apparently normal development for at least the first two years after birth as manifested by the presence of age- appropriate verbal and nonverbal communication, social relationship, play, and adaptive behavior.
    • B. Clinically significant loss of previously acquired skills (before the age 10 years) in at least two of the following areas:
      Expressive or receptive language, Social skills or adaptive behavior, Bowel or bladder control, Play, Motor skills.
    • C. Abnormalities of functioning in at least two of the following:
      • Qualitative impairment in social interaction (e.g., impairment in nonverbal behaviors, failure to develop peer relationships, lack of social or emotional reciprocity).
      • Qualitative impairments in communication (e.g., delay or lack of spoken language, inability to initiate or sustain a conversation, stereotyped and repetitive use of language, lack of varied make-believe play).
      • Restricted, repetitive, and stereotyped patterns of behavior, interest and activities, including motor stereotypes and mannerisms.
    • D. The disturbance is not better accounted for by another specific pervasive developmental disorder or by schizophrenia.
  • Associated features
    • A child's development progresses around the same speed as his/her peers, but still he/she will develop their skills at their own rate. A diagnosis of CDD should be considered with either development stops or begins to decline. A parent might notice that their child is no longer toilet trained. The child may lose the ability to speak normally (expressive or receptive language) or walk. Parents may notice that their child does not play as he/she did before. With CDD, a child slowly begins to lose both previously learned skills and the ability to learn new ones. Control over bowel and bladder processes, and play skills are also known to be correlated with the development of CDD. This typically occurs after the first 2 years but prior to 10 years of age.
    • Children with childhood disintegrative disorder are usually linked with severe mental retardation. EEG abnormalities and seizure disorders increases with Childhood Disintegrative Disorder. CDD can also be associated with certain medical conditions such as metachromatic leukodystrophy, Schilder’s disease, tuberous sclerosis, and nuerolipidoses (Hoffman, 2009).
    • Symptoms of CDD are more commonly diagnosed between 3 - 5 years of age. However, symptoms can onset rapidly within days or weeks or they can onset gradually over weeks to even months (Hoffman, 2009).
    • This disorder is sometimes misdiagnosed as autism. Autism is by far the more common of the two and is slightly different. The symptoms of CDD occur more rapidly. The skills are lost in shorter time period. Autism usually presents itself much sooner than CDD tends to.
  • Child vs. adult presentation
    • This disorder follows a period of approximately two years of normal development with regression occurring in multiply areas of functioning. After two years of life, but before ten years, the child’s loss of previously required skills are clinically and significantly lost. This usually occurs before the age of ten and typically does not occur after the age of ten and adulthood. The age of onset in most cases is between the ages 3 and 4 years and this condition may develop abruptly. Increased activity levels, irritability, and anxiety followed by a loss of speech and other skills are indications that help parents identify this disorder and seek treatment.
  • Gender and cultural differences in presentation
    • Researcher had thought that CDD was the same in boys and girls, but it has been found to be four times more common in boys than girls. The girls were misdiagnosed and they had the Retts Disorder.
    • CDD has shown to be sporadic in families that have not been diagnosed with other members showing signs and symptoms of this disorder (Hoffman, 2009).
  • Epidemiology
    • Statistical data has been difficult to compile due to the variable diagnostic criteria used. It has been found that it is at least one tenth as common as autistic disorder. It is estimated that there is one case in 100,000 of boys. It is also estimated that it is occurring in one girl to four to eight boys. In one study, it is shown that 1.7 per 100,000 subjects have Childhood Disintegrative Disorder. CDD it is said to be rare and has a prevalence 60 times less than autism.
    • The onset can be insidious or abrupt. Pre-monitory signs include increased activity levels, irritability, and anxiety followed by a loss of skills. The child may also lose interest in his environment. The loss of skills usually reaches a plateau, after which there may be some limited improvement. The loss of skills is often progressive, especially when the disorder is associated with a neurological condition.
    • Deterioration does reach a plateau with CDD but produces minimal gains and a "limited recovery." Some cases do show deterioration to be progressive but this is only apparent in a minority of patients (Hoffman, 2009).
  • Etiology
    • Etiology of childhood disintegrative disorder has not been determined. It has been connected with other neurological conditions such as tuberous sclerosis, seizures and metabolic disorder.There is some evidence that CDD is linked to insult to a growing central nervous system ,however, this has not been proven inclusively.
    • Genetic studies are limited providing inconclusive results as to a specific abnormal gene that would identify a family trigger (Hoffman, 2009).
  • Empirically supported treatments
    • There is currently no cure for CDD. Because of the neurological complications such as epilepsy occur the children with CDD function at a severe to profound level of mental retardation, an approach from multiple disciplines must be used. Although their are no medications that can reverse the negative affects of CDD, there is medication available that can control associated behaviors such as aggression, seizures and iterative movements. Behavior therapy can also be used help treat CDD. The treatment for CDD is very similar to Autism and even with the best treatment the outcome is usually negative.
    • Some parents choose not to go the usual drug route and add various forms of therapy such as art or music therapy. Parents should be skeptical, however, of these added therapies because they are not very well supported and as noted above, the prognosis of CDD is not a good one.


4. Rett's Disorder (299.80)

  • Introduction
    • First discovered in 1966 by an Austrian physician (Harris, Glasberg, & Ricca).
      • Noticed two girls in his waiting room exhibiting identical hand mannerism.
      • Ultimately, he identified similar hand movements among 20 other girls diagnosed with mental retardation.
    • Characteristically defined as a pattern of regression beginning at 5-18 months old to include social, language, motor, and cognitive development (Hoffman, 2009).
    • Rett's disorder is second to Down's syndrome as a cause of mental retardation in females (Hoffman, 2009).
      • Characteristically, only found in females due to being linked with the X chromosome that encodes Methyl-CpG binding protein-2 (MECP2).
        • MECP2 involved in the regulation of expression of other genes during development.
        • Mutations in MECP2 reported in 87% of females with classical Rett's disorder
        • Mutations in MECP2 reported in 50% of females with variant of the disorder
        • Mutations in MECP2 found to be lethal in males.
  • DSM-IV-TR criteria
    • A. All of the following:
      • 1. apparently normal prenatal and perinatal development
      • 2. apparently normal psychomotor development through the first 5 months after birth
      • 3. normal head circumference
    • B. Onset of all of the following after the period of normal development:
      • 1. deceleration of head growth between ages 5 months and 48 months
      • 2. loss of previously acquired purposeful hand skills between ages 5 and 30 months with the subsequent development of stereotyped hand movements (e.g., hand wringing or hand washing)
      • 3. loss of social engagement early in the course (although often social interaction develops later)
      • 4. appearance of poorly coordinated gait or trunk movements
      • 5. severely impaired expressive and receptive language development with severe psychomotor retardation
  • Associated features
    • Children diagnosed with Rett's Disorder present normal development and functioning until onset between 5 and 48 months. Rett's Disorder has typically been associated with Severe or Profound Mental Retardation. There may be an increased frequency of EEG abnormalities in this particular population of individuals. Also, seizure disorder is seen in individuals with Rett's Disorder. Research suggests that the cause of Rett's Disorder may be a genetic mutation. Rett's Disorder is a genetic disorder of developmental arrest or failure of brain maturation. This is thought to happen when subsets of neurons and their synapses are disrupted during a very important time of brain development. This deviation occurs at the end of pregnancy or in the first few months of life during the important time of synapse development. A deceleration of head growth between ages 5 and 48 months is one symptom. Others are loss of previously acquired purposeful hand skills between ages 5 and 30 months, loss of social engagement early on, appearance of poorly coordinated gait movement, severely impaired expressive and receptive language development with severe psychomotor retardation. Rett's Disorder is not a degenerative disorder. It is a neurodevelopmental disorder. As long as the patient does not fall ill or suffer from complications, survival into adulthood is expected.
    • There are four different stages of the disorder:
      • Early Onset occurs at about 6 to 18 months. The symptoms are vague and often overlooked. There are gross motor delays and less eye contact and loss of interest in toys. This stage can last for up to a year.
      • Rapid Destructive stage occurs between 1 and 4 years old. Hand skills and spoken language skill are lost. It can last from a few weeks to a couple of years. Autistic-like symptoms can also occur.
      • Plateau is the third stage. It is between ages 2 and 10. Motor problems and seizures are characteristic at this stage. Most girls stay at this stage during the rest of their lives. They show more interest in their surroundings.
      • Late Motor Deterioration is the final stage. Reduced mobility is the most prominent feature. Girls who could walk may now not be able to walk. Cognitive abilities stay the same. This can last for years as well.
  • Child vs. adult development
    • Although the duration of Rett's Disorder is lifelong, the onset is typically before the age of four and most often in the child's first or second year.
    • Symptoms of Rett's Disorder are present in both children and adults with this disorder.
      • Progressive loss of skills is typically seen throughout the affected individual's lives.
  • Epidemiology
    • Other than two cases of boys being diagnosed with this disease, Rett's Disorder only affects females and is much less common than Autistic Disorder. It is found in all races and ethnic groups of the world.
    • 70-80% of females diagnosed with this disorder have the MECP2 genetic mutation. The rest of the cases are believed to have partial gene mutation.
    • Onset usually occurs before four years of age, usually about the first or second year. The duration is lifelong, and the loss of skills persistent and progressive. Recovery is usually quite limited, although some developmental gains may be made and there may be interest in social interaction as during late childhood or adolescence. Difficulties with communication and behavior remain constant throughout life.
  • Etiology
    • This disease is caused by a genetic mutation on the long arm of the X chromosome. These genes cause the brain to develop incorrectly by inappropriately activating other genes in the brain at the wrong time.
  • Empirically supported treatments
    • There is currently no cure for autism but treatment is available to alleviate the symptoms
    • There are treatments available to manage their symptoms such as physical therapy or occupational therapy. Some find that medications for muscular rigidity are helpful while others gain normalcy from medications that treat things like anxiety or irritability. A child psychiatrist should be consulted for proper medication.
    • While there is no cure, however, there are several treatments options. Treatment is therefore concentrated on relief of individual symptoms, compensation for physical disabilities and the provision of the best possible stimulation and quality of life. Deformities and progressive disabilities should be prevented wherever possible. Occupational therapy (in which therapists help children develop skills needed for performing self-directed activities - occupations - such as dressing, feeding, and practicing arts and crafts), physiotherapy, and hydrotherapy may prolong mobility. Treatment must always be individually structured, on the basis of the specific problem complex and point of departure of each girl, who must be offered help in utilizing her retained abilities and stimulation for further development. Special academic, social, vocational, and support services may also be required in some cases.

  • It has been proposed that this disorder not be included in DSM-5. The rationale is that Rett's Disorder patients often have autistic symptoms for only a brief period during early childhood, so inclusion in the autism spectrum is not appropriate for most individuals.
  • Links
    • Click here to see a detailed instructional lecture by Dr. Zoghbi on Rett's Disorder. Presented by the Howard Hughes Medical Institute.
    • This videopresents interviews with parents of girls with Rett's Disorder about treatment and also shows what some of the symptoms look like.

5. Asperger's Disorder (299.80)

  • Introduction
    • Asperger's disorder is defined in the DSM-IV-TR to include the same social interaction and behavior impairments as those diagnosed with autism (Hoffman, 2009).
      • This subtype, however, does not include language or cognitive deficits
        • Unlike those with autism, children with Asperger's are interested in interacting with others.
          • Socially inappropriate, odd communication, or difficulty reading social cues inhibit formation of peer relationships.
          • Furthering their social isolation, children with Asperger's are described as "little professors" in that they become experts in a particular area of interest often to the exclusion of other topics.
        • Verbal skills are superior to non-verbal
          • Exhibit motor difficulties
            • Visual-spatial abilities
            • Fine and gross motor skills
              • Poor coordination
              • Odd gait
              • Clumsiness
      • Impairments cannot be due to another PDD or schizophrenia.
      • More common in males
        • Estimated between a 5:1 to at least 9:1 male to female ratio
        • Hans Asperger first described this disorder as being attributed to familial heredity.
          • He characterized this disorder to include the following symptoms:
            • Decreased facial expression and gestures
            • Peculiarities is communication
            • Lack of empathy and intellectualization of feelings
            • School behavioral problems
              • i.e. aggression stemming from social deficits
  • DSM-IV-TR criteria
    • A. Qualitative impairment in social interaction, as manifested by at least two of the following:
      • 1. marked impairment in the use of multiple nonverbal behaviors such as eye-to-eye gaze, facial expression, body postures, and gestures to regulate social interaction
      • 2. failure to develop peer relationships appropriate to developmental level
      • 3. a lack of spontaneous seeking to share enjoyment, interests, or achievements with other people (e.g., by a lack of showing, bringing, or pointing out objects of interest to other people)
      • 4. lack of social or emotional reciprocity
    • B. Restricted repetitive and stereotyped patterns of behavior, interests, and activities, as manifested by at least one of the following:
      • 1. encompassing preoccupation with one or more stereotyped and restricted patterns of interest that is abnormal either in intensity or focus
      • 2. apparently inflexible adherence to specific, nonfunctional routines or rituals
      • 3. stereotyped and repetitive motor mannerisms (e.g., hand or finger flapping or twisting, or complex whole-body movements)
      • 4. persistent preoccupation with parts of objects
    • C. The disturbance causes clinically significant impairment in social, occupational, or other important areas of functioning.
    • D. There is no clinically significant general delay in language (e.g., single words used by age 2 years, communicative phrases used by age 3 years).
    • E. There is no clinically significant delay in cognitive development or in the development of age-appropriate self-help skills, adaptive behavior (other than in social interaction), a curiosity about the environment in childhood
    • F. Criteria are not met for another specific Pervasive Developmental Disorder or Schizophrenia.
  • Associative features
    • Asperger's Disorder has been associated with many mental disorders, such as Depressive Disorders. Also, on occasion, Mild Mental Retardation has been seen to be associated with Asperger's Disorder. Individuals with this disorder generally seem to have strengths in verbal abilities and weaknesses in non-verbal abilities (i.e. mild motor clumsiness may be present). Overactivity and inattention are typically seen in individuals with Asperger's Disorder.
    • These individuals demonstrate relatively intact intellectual and language functioning accompanied by social impairments seen in autism. They tend to have appropriate but unusually intense interests, increased clumsiness and more object than people focused. There is little research to differentiate from high functioning autism such as with autism and PDD-NOS. They are considered distinct diagnoses in the DSM but instruments are hard to differentiate them effectively. Instead, diagnostic and clinical judgment must be relied on.
    • Children with Asperger's Disorder typically are higher functioning than those with Autism. They have difficulty interacting with peers and some children even have normal intelligence. They are often loners and are often characterized as having eccentric behaviors.
    • People with Asperger syndrome have difficulty recognizing faces. They do not use the eye region to a great extent in face identification. The visual search strategies in normal functioning individuals are more effective and rely on the use of the "face information triangle", i.e. the two eyes and the mouth, while individuals with Asperger syndrome have more fixations on other parts of the face suggesting a less effective use of the "face information triangle"(Falkmer, Larsson, Bjallmark, & Falkmer, 2010).
    • When visual search strategies, particularly regarding the importance of information from the eye area, and the ability to recognize facially expressed emotions are compared between adults with Asperger syndrome and normal functioning individuals it is shown that adults with Asperger syndrome had greater difficulties recognizing basic emotion. Distortion of the eye area also affects the ability to identify emotions greatly for participants with Asperger syndrome (Falkmer, Bjallmark, Larsson, & Falkmer, 2011).
    • Controversy surrounds the distinction between high-functioning autism (HFA) and Asperger disorder, but motor abnormalities are associated features of both conditions. An examination of motor cortical inhibition and excitability in HFA and Asperger disorder using transcranial magnetic stimulation (TMS) reveals a possible distinction between the two. Cortical inhibition is significantly reduced in people with HFA compared with both the Asperger disorder (p less than 0.001) and neurotypical (p less than 0.001) people, suggesting disruption of activity at gamma-aminobutyric acid A (GABAA) receptors. Cortical inhibition deficits may underlie motor dysfunction in autism, and perhaps even relate to specific clinical symptoms (e.g. repetitive behaviours). These findings provide novel evidence for a possible neurobiological dissociation between HFA and Asperger disorder based on GABAergic function (Enticott, Rinehart, Tonge, Bradshaw, & Fitzgerald, 2010).
    • Physical activity is beneficial for youth with developmental disabilities. It was shown in a recent study that adolescents with Asperger syndrome scored significantly lower than the comparison group on all physical fitness subtests, including balance, coordination, flexibility, muscular strength, running speed, and cardio-respiratory endurance (p less than 0.001). Adolescents with Asperger syndrome were also less physically active (p less than 0.001)(Borremans, Rintala, & McCubbin, 2010).
    • Participants with autism, but not with Asperger syndrome, displayed enhanced pitch discrimination for simple tones. However, no discrimination-thresholds differences were found between the participants with ASD and the typically developing persons across spectrally and temporally complex conditions. These findings indicate that enhanced pure-tone pitch discrimination may be a cognitive correlate of speech-delay among persons with ASD (Bonnel, McAdams, Smith, Berthiaume, Bertone, Ciocca, et al., 2010).
    • An investigation on whether children with Asperger syndrome (AS) show superior competence in creativity, and an examination of the relationship between nonverbal creativity and nonverbal IQ and vocabulary size reveal that the participants with AS scored significantly higher in originality and elaboration, compared to their peers. Nonverbal divergent thinking was correlated to nonverbal IQ for participants with AS. It was observed that participants with AS drew the 12 incomplete figures mostly in the areas which interest them. This result may indicate better performances in originality and lesser performances in flexibility (Liu, Shih, & Ma, 2011).
  • Child vs. adult presentation
    • Different ages may present differently for Asperger's Disorder. Often the social disability of individuals with Asperger's Disorder can become more striking over time. By adolescence some people with the disorder may use areas of strength to compensate for weaker areas. Individuals with the disorder may feel victimization from others. Feelings of social isolation and an increasing understanding of self-awareness can lead to the development of depression and anxiety in adolescents and young adults.
  • Gender and Cultural Differences in Presentation
    • Asperger's Disorder is at least 5 times more likely to be diagnosed in males than females. Asperger's Disorder has no ethnic boundaries, Asperger's is seen all around the world. Rates seem to be higher with the greater rates of populations. There has been no conclsive evedience to support that Asberger's Disorder shows cultural differences.
  • Epidemiology
    • It is estimated that between 0.024% and 0.36% of the general population in North America and northern Europe have Asperger’s Disorder and it is more common in boys. Anxiety disorder and major depressive disorder are likely to be comorbid with Asperger's disorder. It is estimated that 65% of people with Asperger's also have one of them
    • With effective treatment, children with AS can learn to cope with their disabilities, but they may still find social situations and personal relationships challenging. Many adults with AS are able to work successfully in mainstream jobs, although they may continue to need encouragement and moral support to maintain an independent life.
    • Generally, there is about 5 to every 10,000 children that have Asperger's Disorder.
    • Asperger's follows a lifelong course. Good verbal abilities may mask social dysfunction and mislead teachers-->
  • Etiology
    • The etiology of Asperger's Disorder is not known but current studies suggest that the condition may run in families, particularly with histories of depression and bipolar disorder. Also, about fifty percent of patients with Asperger’s Disorder have a history of oxygen deprivation during birth, which leads to the hypothesis that it is caused by damage to the brain before or during childbirth.
  • Empirically supported treatments
    • Treatment for Asperger’s Disorder addresses the three main symptoms: reduced communication skills, obsessive or repetitive routines, and clumsiness. Most agree the earlier the intervention, the better. An effective treatment program takes the child’s interests into account, offers a predictable schedule, teaches tasks as simple steps, holds their attention, and helps strengthen behavior. The treatment may include social skills training, cognitive behavioral therapy, and medication for co-existing conditions. Individual psychotherapy to help process feelings of being "socially handicapped". There are also specific medications for problems such as: hyperactivity, impulsivity, inattention, irritability, aggression, preoccupations, rituals, compulsions, and anxiety.
  • DSM-5 is proposing that this disorder be subsumed into the existing, Autistic Disorder.
    • There is some objection, regarding the proposal, among some people in the Asperger's/Autism community

(uploaded by Diamonddavej, direct link

6. Pervasive Developmental Disorder Not Otherwise Specified or PDD-NOS (299.80)

  • Children diagnosed with PDD-NOS fall into at least one of two categories, if not both:
    • They do not meet the criteria of symptoms utilized by clinicians to diagnose any of the four previously mentioned types of PDD
    • They do not have the degree of impairments outlined in the four types of PDD (Tsai, 1998).
  • This category should be utilized when there is a severe and pervasive impairment in the development of social interaction or verbal and nonverbal communication skills, or when stereotyped behavior, interests, and activities are present, but the criteria are not met for a specific Pervasive Developmental Disorder, Schizophrenia, Schizotypical Personality Disorder, or Avoidant Personality Disorder" (Tsai, 1998).
    • For example, this category includes "atypical autism"-- presentations that do not meet the criteria for Autistic Disorder because of late age of onset, atypical symptomatology, or sub-threshold symptomatology, or all of these.
  • PDDNOS is the result of a neurological abnormality; however there is no explanation for its cause(s) (Tsai, 1998).
    • The components used to define this disorder could be the culprit of the failed causal relationships, because PDDNOS includes behavioral symptoms rather than genetic testing.
  • Children generally reach age 3-4 years old before they portray enough symptoms to cause a parent or caregiver to worry about a diagnosis (Tsai, 1998).
  • Symptoms for PDDNOS lie on a continuum and vary per child in the degree and intensity of impairments:
    • Social behaviors (Tsai, 1998)
      • Infants may avoid eye contact and exhibit little, if any interest, in human voices.
      • Infants do not usually raise their arms to indicate wanting to be picked up, as normal children do.
      • Young children do not develop typical attachment behaviors and do not exhibit separation or stranger anxiety.
      • Young children lack interest in playing with other children, to the point of actively avoiding others.
      • Middle aged children may show greater attachments towards family members, friends, and peers; however, they still have social impairments.
      • These children lack correct responses towards others' interests and emotions and may lack the comprehension of humor.
    • Nonverbal communication (Tsai, 1998)
      • Even if children exhibit the normal pulling of adults' hands toward a desired object, they may do so without exhibiting the proper facial expressions.
      • Children with PDDNOS do not seem to participate in imaginative games and are less likely to imitate their parents' activities.
        • Some children to participate in imaginative play; however, they tend to exhibit repetitive behaviors.
      • Individuals in middle to late childhood tend not to utilize gerstures.
      • Children with PDDNOS do know how to exhibit emotion.
        • The emotions exhibited are extremes. They do not ordinarily portray subtle facial expressions.
    • Speech (Tsai, 1998).
      • Infants tend not to babble. If they do, the babbling halts within the first year.
      • Echolalia may be the only type of speech acquired.
        • Even if echolalic speech is accurately produced, comprehension may be limited.
        • Echolalia serves several functions
          • self stimulation
          • the step between being nonverbal and verbal
          • sufficient communication
      • Some develop efficient phrase usage; however, is accompanied by pronoun reversal.
      • Impairments in speech production are evident, to include monotonous, flat, robotic sounds that lack pitch change, emphasis, or emotion.
      • Odd speech characteristcs exhibited by children with PDDNOS include singsong speech, question-like statements, odd breathing rhythms, etc.
      • Abnormal grammar in verbal children results in:
        • distorted phrases
        • muddled sounding synonyms or similar sounding words
        • labeling objects by their use
        • inventing new words
        • incorrect usage of prepositions, conjunctions, and pronouns.
      • Speech lacks imagination, abstraction, or subtle emotion
      • Children have difficulties discussing things outside of immediate contexts and ordinary "to-and-fro" conversations.
    • Behavioral Patterns (Tsai, 1998)
      • Children with PDDNOS are resistant to change.
        • They exhibit frustration when their line of toys are disrupted
        • New activities are resisted
      • They exhibit ritualistic/compulsive behaviors.
        • Can involve rigid routines, repetitions, or preoccupations
      • Attachments and behaviors are abnormal.
        • Exhibit intense attachments to odd objects
        • Preoccupation with select features of objects
      • Unsual responses to sensory experiences
        • Under or overresponsive to certain stimuli
        • Some avoid tender contact and enjoy rough play
    • Movement (Tsai, 1998)
      • Motor skills can be delayed; however, lie within the normal range.
      • If they are overactive as young children, they tend to be less so in adolescence.
      • The following behaviors may be continuous or sparatic: grimacing, hand flapping, toe walking, jumping, pacing, swaying, head banging, etc.
    • Cognitive Impairments (Tsai, 1998)
      • Children do well on tests involving manipulative and visual skills or immediate memory, while scores are inadequate when asked to implement logic and abstract thought.
      • Development is impaired in regards to imitation, comprehension, inventiveness, applying rules, and utilizing information.
      • Development excells in rote memory and skills in music, math, and reading.
      • Children diagnosed with PDDNOS who also have a low IQ score tend to lack social skills and exhibit inappropriate social responses (i.e. touching or smelling people).
  • Testing for PDDNOS (Tsai, 1998)
    • Currently no objective biological assessments to confirm diagnosis
      • Diagnosis reflects clinician’s “best guess"
      • To gain an accurate diagnosis requires a thorough assessment by a trained professional
        • child psychiatrist
        • developmental pediatrician
        • pediatric neurologist
        • child psychologist
        • developmental psychologist
        • neuropsychologist
    • Assessments, conducted by local public school or private practitioner, are implemented to gather information to determine an accurate diagnosis and to provide information to aid in the appropriate intervention for the child and family.
      • Medical Assessment
        • Thorough birth, development, medical, and family history
        • Full physical and neurological exam
        • Laboratory tests and/or brain scans (at the physician’s
      • Genetic and Family Studies
        • Indicates the relationship between PDD-NOS and autism exists by noting the possibility of diagnosis of either genetic disorder in siblings of the diagnosed person (Hoffman, 2009).
        • Immediate relatives of an individual with PDD-NOS may be in a group called the "broader autism phenotype." This group may exhibit features of PDD-NOS but do not portray enabaling features to carry the diagnosis of PDD-NOS (Hoffman, 2009).
      • Interviews
        • Child him/herself
        • Parent
        • Teacher
        • Child may behave differently per setting/situation
      • Rate Behavior
      • Direct Behavioral Observations
      • Psychological assessment
        • Utilize standard instruments to evaluate the following areas
          • Cognitive
          • Social
          • Emotional
          • Behavior
          • Adaptive Function
      • Educational Assessment
        • Formal and informal tests to evaluate:
          • Preacademic skills
          • Academic skills
          • Daily living skills
          • Learning style and problem solving approaches
      • Communication assessment
        • Formal testing
        • Observation
        • Parental/Caregiver interviews
        • Assess range of communication skills:
          • Personal interest in communication
          • Purpose for communication
          • Content and context
          • Nonverbal communication
          • Comprehension of communication
      • Occupational assessment
        • Determine nature of sensory function
        • Assess fine and gross motor skills
      • Evaluation Summary
        • Utilize all information gathered to determine diagnosis
    • Treatment for PDDNOS (Tsai, 1998)
      • Behavioral Issues
        • Keep environment organized with clear, concise, and consistent rules.
          • Structure and predictability are essential.
          • Problem behaviors could be a form of communication.
        • Remember in positive behavioral support strategies:
          • Programs are individually based
          • Children with PDDNOS have trouble generalizing from one environment to the next
          • Implementing home-community based approaches can maximize results
          • Adapting to classroom environments can be difficult, therefore:
            • Knowledgeable teachers are essential;
            • Structure, consistency, and predictability should be utilized;
            • Information should be presented visually and verbally;
            • Interaction with nondisabled peers is vital for appropriate language, social, and behavioral skills;
            • Communication devices aid in improving communication skills;
            • Reduced class size and appropriate seating arrangements help to eliminate distractions;
            • Curriculum should be modified depending on the child’s strengths and weaknesses;
            • Combining positive behavioral supports with educational interventions provide better results;
            • Continuous and regular communication between teachers, parents, and primary care physicians is a must.
      • Medical Treatment
        • Medical treatment is to ensure good physical and psychological health.
        • Regular checkups to monitor growth, vision, hearing, blood pressure, dental, diet, and hygiene allow for preventative measures.
        • There is not one specified medication for all children with PDDNOS.
          • Levels of medication require experimentation to determine the optimal dosage
          • Medication regimens are individualistic and are a last resort.
          • If medications are prescribed, they should be taken in conjunctions with other therapies and thoroughly monitored.
      • Psychological treatment
        • Counseling is beneficial in assisting adjustment for the family.
        • Psychologists provide ongoing assessment, school consultation, case management, and behavioral training.
        • Family teamwork eases the burden on the primary caregiver.
      • Additional Options
        • Facilitated Communication encourages individuals with communication impairments to express themselves by utilizing a facilitator to assist in spelling words on a keyboard, typewriter, or computer.
        • Auditory Integration Therapy (AIT) sends randomly selected frequencies from a CD player to the child with PDDNOS, resulting in
          • diminished sensitivity to sounds
          • spontaneous speech
          • development of complex language
          • answering questions
          • increased interaction with peers
          • appropriate social behavior
        • Sensory Integration Therapy sets out to improve how a child’s senses process stimulation and work together to respond efficiently.
        • The Lavaas Method is considered an Applied Behavior Analysis and intended for preschool aged children with autism.
          • Behaviors are molded by rewarding desired behaviors and ignoring undesired behaviors in 4-6 hours per day of one on one training between 5-7 days per week.
        • Vitamin therapy adds B6 and magnesium to the child’s diet to help form malfunctioning neurotransmitters.
        • Dietary intervention may be necessary for some children with PDDNOS because of food sensitivities or allergies.
        • Anti-yeast therapy is assumed by some to reduce negative behaviors.
          • Antibiotics provided to toddlers for ear infections can cause “yeast overgrowth,” which may or may not be a coincidence of the existence of higher yeast levels in children diagnosed with autism and PDDNOS.

DSM-5 is proposing that this disorder be subsumed into the existing, Autistic Disorder.

  • The following video, gives insight to an everyday outing with a child with Autism.

7. Mental Retardation

  • There are three classification systems used when defining mental retardation criterion in North America, the DSM-IV-TR, AAMR, and the Educational System.

    • DSM-IV-TR criteria
      • A. Significantly sub average intellectual functioning: an IQ of approximately 70 or below on an individually administered IQ test (for infants, a clinical judgment of significantly sub-average intellectual functioning).
      • B. Concurrent deficits or impairments in present adaptive functioning (i.e., the person’s effectiveness in meeting the standards expected for his or her age by his or her culture group) in at least two of the following areas: communication, self-care, home living, social/interpersonal skills, use of community resources, self-direction, functional academic skills, work, leisure, health, and safety.
      • C. The onset is prior to 18 years of age.
      • Code based on degree of severity reflecting level of intellectual impairment:
        • 317 Mild Mental Retardation: IQ level 50-55 to approximately 70 (accounts for 85% of retarded population). Mild Mental Retardation is roughly equivalent to what used to be referred to as the educational category of "educable." This group constitutes the largest segment (about 85%) of those with the disorder. As a group, people with this level of Mental Retardation typically develop social and communication skills during the preschool years (ages 0-5 years), have minimal impairment in sensorimotor areas, and often are not distinguishable from children without Mental Retardation until a later age. By their late teens, they can acquire academic skills up to approximately the sixth-grade level. During their adult years, they usually achieve social and vocational skills adequate for minimum self-support, but may need supervision, guidance, and assistance, especially when under unusual social or economic stress. With appropriate supports, individuals with Mild Mental Retardation can usually live successfully in the community, either independently or in supervised settings.
        • 318.0 Moderate Mental Retardation: IQ level 35-40 to 50-55 (accounts for 10% of retarded population). Moderate Mental Retardation is roughly equivalent to what used to be referred to as the educational category of "trainable." This outdated term should not be used because it wrongly implies that people with Moderate Mental Retardation cannot benefit from educational programs. This group constitutes about 10% of the entire population of people with Mental Retardation. Most of the individuals with this level of Mental Retardation acquire communication skills during early childhood years. They profit from vocational training and, with moderate supervision, can attend to their personal care. They can also benefit from training social and occupational skills but are unlikely to progress beyond the second-grade level in academic subjects. They may learn to travel independently in familiar places. During adolescence, their difficulties in recognizing social conventions may interfere with peer relationships. In their adult years, the majority are able to perform unskilled or semiskilled work under supervision in sheltered workshops or in the general workforce. They adapt well to life in the community, usually in supervised settings.
        • 318.1 Severe Mental Retardation: IQ level 20-25 to 35-40 (accounts for 3-4% of retarded population). The group with Severe Mental Retardation constitutes 3%-4%of individuals with Mental Retardation. During the early childhood years, they acquire little or no communication speech. During the school-age period, they may learn to talk and can be trained in elementary self-care skills. They profit to only a limited extent from instruction in pre-academic subjects, such as familiarity with the alphabet and simple counting, but can master skills such as learning slight reading of some "survival" words. In their adult years, they may be able to perform simple tasks in closely supervised settings. Most adapt well to life in the community, in group homes or with their families, unless they have an associated handicap that requires specialized nursing or other care.
        • 318.2 Profound Mental Retardation: IQ level below 20-25 (accounts for 1-2% of retarded population). The group with Profound Mental Retardation constitutes approximately 1%-2% of people with Mental Retardation. Most individuals with this diagnosis have an identified neurological condition that accounts for their Mental Retardation. During the early childhood years, they display considerable impairments in sensorimotor functioning. Optimal development may occur in a highly structured environment with constant aid and supervision and an individualized relationship with a caregiver. Motor development and self-care and communication skills may improve if appropriate training is provided. Some can perform simple tasks in closely supervised and sheltered settings.
        • 319 Mental Retardation, Severity Unspecified: when there is strong presumption of Mental Retardation but the person's intelligence is untestable by standard tests. The diagnosis of Mental Retardation, Severity Unspecified, should be used when there is a strong presumption of Mental Retardation but the person cannot be successfully tested by standardized intelligence tests. This may be the case when children, adolescents, or adults are too impaired or uncooperative to be tested or, with infants, when there is a clinical judgment of significantly sub average intellectual functioning. The available tests (e.g., The Bayley Scales of Infant Development, Cattell Infant Intelligence Scales, and others) do not yield IQ values. In general, the younger the age, the more difficult it is to assess for the presence of Mental Retardation except in those with profound impairment. The Bayley Scales of Infant Development (BSID) measure the mental and motor development and test the behavior of infants from one to 42 months of age. The BSID are used to describe the current developmental functioning of infants and to assist in diagnosis and treatment planning for infants with developmental delays or disabilities. The test is intended to measure a child's level of development in three domains: cognitive, motor, and behavioral.
    • American Association of Mental Retardation
      • The American Association on Mental Retardation is another one of the three classification systems currently used in North America. Instead of focusing on the severity of the disorder, AAMP focuses on how intense the intervention is (intermittent, limited, extensive, or pervasive). Another difference between the DSM-IV-TR and AAMP is that the AAMP does not view MR as a metal disorder (Axis II) or a medical disorder. However, both classification systems view MR as having limited intellectual and adaptive skills. The two also agree that the age of onset it prior to the age of 18, the IQ level should be 70 or below, and that you must meet criteria other than an IQ score. The most recent definition in AAMP focuses on considering ecological and multidimensional influences when you are developing interventions. The nine areas in which you must rate the intensity of intervention are: human development, education, home living, community living, employment, health and safety, behavior, social, and protection issues.
  • Educational System
    • The third classification system for defining mental retardation is the Educational System. In the educational system there has been many changes regarding the cutoff level for placement in the special education system. In the 1970s the IQ level designated for mental retardation was 85. It is difficult for the educational system to define mental retardation criterion by themselves because the special education system is funded by the state governments in which their criteria corresponds with the DSM-IV-TR and AAMP.
  • Associated features
    • There are no specific personality traits associated with Mental Retardation. Some individuals are passive, placid, and dependent, but others may be aggressive. Lack of communication skills may cause dispose them toward disruptive behaviors as a substitute for language. Developmental delays vary widely with the nature of mental retardation. For example, in some cases, incapacity is only limited to impaired academic performance, but all adaptive skills are adequate. Some have aggressive features with comorbid behavior problems. This problem would make adjustment difficult. Negative features include self-injurious behavior, aggression, stereotypical movements, communication problems, and overactivity. Mild cases of MR can function adequately at a slower pace when goals have been modified. Cognitive limitations tend to be less noticeable in a predictable and structured environment. Those with Mental Retardation have a prevalence of comorbid disorders that are much higher than the general population, although there is no evidence to suggest that the disorder will present itself differently than in someone without Mental Retardation. It is more difficult to diagnose comorbid mental disorders, though, because of their difficulty in communication to give an adequate history. The most commonly seen comorbid disorders are Attention-Deficit/Hyperactivity Disorder, Mood Disorders, Pervasive Developmental Disorders, Stereotypical Movement Disorder, and Mental Disorders Due to a General Medical Condition. One of the key defining features in making a diagnosis of MR is that in MR the person will commenstraut with expected IQ but have low academic achievement. There is, however, a significant discrepency between IQ and achievement. There are four levels of severity of MR based on the individuals level of functioning and associated expectations: mild, moderate, severe, and profound. Many have problems in central processing, or classification of stimuli through the use of memory. Memory is also difficult. They also have deficits in executive function, the decision-making element that controls reception, central processing, adn expression.
  • Child vs. adult presentation
    • Since one criteria is onset before 18 years of age, children are more likely to statistically have Mental Retardation. Children are at a higher risk for MR because most Mental Retardation comes from within the womb and birth, (infections, chromosomal abnormalities, environmental, metabolic, and nutritional), but Mental Retardation can occur in other ways. Adults can also be diagnosed with Mental Retardation. Adult MR can also come about from toxic exposure and trauma (most likely to the brain). There are also unexplained reasons; this particular reasoning is the largest one because there are so many cases of Mental Retardation that cannot be explained. (Mental Retardation, 1997).
  • Gender and cultural differences in presentation
    • Individualized testing are always required to make the diagnosis of Mental Retardation. Mental Retardation due to known biological factors is similar among children of upper and lower socioeconomic classes, except that certain etiological factors are linked to lower socioeconomic status. Some biological factors are irregular genes or genes that did not fuse together properly, an example being down syndrome (when there is the presents of an extra chromosome). In cases in which no specific biological causation can be identified, the Mental Retardation is usually milder and individuals from lower socioeconomic classes are overrepresented. There is no cultural differences in presentation of mental retardation. Mental Retardation is more common among males, with a male-to-female ratio of approximately 1.5:1. (Mental Retardation, 2009)
  • Epidemiology
    • Testing for MR has become increasingly improved over the years. New testing has come about biotechnological progress such as antenatal and neonatal screenings are some of these new types of testing. The real factor is that this new testing are not always available for all individuals. Also, these tests are at high risk and are still unsound for specific results. (Leonard & Wen, 2002) Mental retardation occurs about 2.5% to 3% of the total population. In most cases, it is a lifelong condition. Socioeconomic status & ethnicity plays a role in MR. MR tends to be more common among low SES and minority groups. Relationship between mild MR and parental SES and its highly correlated measure, parental IQ. A classic study by Reed & Reed (1965). Association of mild MR and race is more complicated. IQ couldn't be used to put someone in special classes. Test bias, de-emphasis by schools of the importance of IQ in diagnostic decisions. A classic cases that describes the importance of IQ is the Larry P. v. Riles case in California and its effects.
  • Links
  • Developmental Theories
  • Double ABCX Model is known as a crisis of raising a child with MR (x) is a function of child's characteristics (A), family's resources (B), and family's perceptions (C). The concept of stress was first introduced into family studies by researcher's examining impacts of the 1930s great depression. Hill (1949) ABCX Model, McCubbin and Patterson (1981) Double ABCX Model, and McCubbin and Figley (1938) stated that families generally operate on a predictable normal cycle, anticipating and accepting a sequence of events that will occur throughout the life-force. Below is a picture of the Double ABCX Model.
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  • Etiology
  • There are a number of causes of mental retardation. The majority of causes come from Down Syndrome, Fetal Alcohol Syndrome, and Fragile X Syndrome.
      • Genetic causes occur when errors are made when genes combine. Chromosome errors result in Down Syndrome and Fragile X Syndrome. This is the most common cause of mental retardation.
      • Problems during pregnancy can also result in mental retardation. If the mother is using alcohol or drugs such as LSD, STP, marijuana, or alcohol, she may cause damage to the brain. Thalidomide has also been shown to cause Mental Retardation, and the effects of lead can also play a role. Other illness that the mother has during the pregnancy, such as rubella or German measles, syphilis, or toxoplasmosis can cause mental retardation. Also, if the brain is not formed properly during the growth of the baby, mental retardation can result.
      • Problems during birth can cause mental retardation as well, such as prematurity, the umbilical cord being around the neck, or the misuse of forceps.
      • After birth, children can develop mental retardation from diseases such as measles or whooping cough. Also, exposure to high amounts of mercury or lead can cause damage to the brain and nervous system.
      • Another cause is related to poverty and cultural deprivation. Children can become mentally retarded because of malnutrition, environmental hazards, and poor medical care due to poverty. Also, research has been shown that under-stimulation regarding culture can result in damage to the brain.
      • Disorders of metabolism can also lead to Mental Retardation, such as phenylketanuria, gelactosemia, and maternal malnutrition.
    • Down Syndrome is one cause of mental retardation. It is caused by a chromosome abnormality in the 21st chromosome. The incidence of Down Syndrome increases the older the mother is. However Down Syndrome is not directly caused by something the mother does during pregnancy.They are at increased risk for diseases of the cardiovascular and respiratory systems, Alzheimer's Disease, and hearing and vision loss. Individuals with down syndrome are usually characterized by moderate mental retardation, slowing rate of development, social strengths, and weaknesses in grammar and speech. People with Down Syndrome have developmental delays and physical attributes that distinguish the disorder, such as almond-shaped "puffy" eyes, straight hair, shortness, a small skull that is flat in the back, a simean crease across the palm, leathery texture to the palms and soles, a small mouth, a flat philtrum, and square hands and stubby fingers. However, some people with Down Syndrome do not have these physical characteristics that set them apart. Also, they developmental and cognitive delays vary from person to person. People with Down Syndrome have a shorter lifespan. However, recently the life expectancy for people with Down syndrome has increased. In 1929, their average lifespan was nine years, and now it is common for them to live to age fifty and above.
      • Check out the link below to view the facial features of people who are diagnosed with Down Syndrome: Notice the almond shaped eyes, light-colored spots in their eyes, small flat noses, small ears, small mouth with protruding tongues, and round faces. There are many other features, these are just to name a few.
    • Fragile X Syndrome is the most common cause of an inherited mental impairment. It can be passed on to children, even if there are no apparent symptoms of the disorder in the parents. People are carriers of a certain gene (FMR1) and not even know it. The only way to know this is through genetic counseling. The FMR1 gene mutates in the development of the child and that is how the child could get it. Normally, at least one parent has to be a carrier of the gene, because new mutations are rare. Individuals with fragile X usually have moderate mental retardation, strength in Gestalt reasoning, and weakness in sequential processing. They are also usually autistic and exhibit ADHD-like behaviors. People with fragile X syndrome have physical attributes that distinguish the disorder, such as a long narrow face, prominent ears, prominent jaw & forehead, high arched palate, flat feet, hyperextensible joints, and enlarged testicles in males.
    • Males with fragile X syndrome and autism (FXS/autism) represent a distinct subgroup of males with FXS at risk for markedly poorer outcomes. Early identification and intervention can improve outcomes for males with autism spectrum disorder. Both social and repetitive behaviors distinguished males with FXS/autism, with repetitive behaviors playing a more prominent role than previously documented in the literature. Healthcare workers and early interventionists may be able to interview parents about a few key behaviors to determine if young child with FXS should be formally evaluated for autism. Evidence-based practices identified for children with autism spectrum disorder can be implemented as early as possible (Brock, & Hatton, 2010).
      • Living with Fragile X Documentary Trailer
      • Check out the link below to find out more information about what males v. females look like when diagnosed with fragile X.
    • Williams Syndrome is a rare genetic condition (estimated to occur in 1/10,000 births) which causes medical and developmental problems. It is present at birth, and affects males and females equally. It can occur in all ethnic groups and has been identified in countries throughout the world. Individuals who are diagnosed with this disease have a small upturned nose, long philtrum (uppper lip length), wide mouth, full lips, small chin, and puffiness around the eyes. They have heart and blood vessel problems because they are born with small blood vessels, as well as feeding problems. The usually have good verbal and language skills. Individuals with this disease have high death rates.
external image abc_gma_syndrome2_070719_mn.jpg
external image abc_gma_syndrome2_070719_mn.jpg
      • Prader-Willi Syndrome (PWS) is an uncommon genetic disorder. It causes poor muscle tone, low levels of sex hormones and a constant feeling of hunger. The part of the brain that controls feelings of fullness or hunger does not work properly in people with PWS. They overeat, leading to obesity. Babies with PWS are usually floppy, with poor muscle tone, and have trouble sucking. Boys may have undescended testicles. Later, other signs appear. These include:
        • Short stature
        • Poor motor skills
        • Weight gain
        • Underdeveloped sex organs
        • Mild mental retardation and learning disabilities
        external image BUFg4AYaP3xr6i470SKeyt6U_500.jpg
        external image BUFg4AYaP3xr6i470SKeyt6U_500.jpg

      • Fetal Alcohol Syndrome (FAS) is caused by drinking alcohol during pregnancy. The problems that arise from this often intensify when children grow up. There are many developmental delays that occur with FAS as well as physical attributes that are distinguishable.
          • Signs and Symptoms:

            • low birth weight
            • small head circumference
            • developmental delay
            • organ dysfunction
            • facial abnormalities, including smaller eye openings, flattened cheekbones, and indistinct philtrum (an underdeveloped groove between the nose and the upper lip)
            • epilepsy
            • failure to thrive
            • poor coordination/fine motor skills
            • poor socialization skills, such as difficulty building and maintaining friendships and relating to groups
            • lack of imagination or curiosity
            • learning difficulties, including poor memory, inability to understand concepts such as time and money, poor language comprehension, poor problem-solving skills
            • behavioral problems, including hyperactivity, inability to concentrate, social withdrawal, stubbornness, impulsiveness, and anxiety
        • Children can also be born with Fetal Alcohol Effects (FAE). This has the same symptoms of FAS but are less severe.

    • Here are some faces of FAS
      external image afp20050715p279-f2.jpg
      external image afp20050715p279-f2.jpg
      • Mental Retardation can be associated with mental disorders having the commonality of head trauma that can result in Mental Retardation and in personality change due to head trauma. The etiological factors are both biological and psychosocial. In approximately 30%-40% of individuals seen in clinical settings, no clear etiology for the Mental Retardation can be determined despite extensive evaluation efforts. Some of these predisposing factors are heredity, alterations of embryonic development, environmental influences, mental disorders, pregnancy and prenatal problems, and general medical conditions acquired in infancy or childhood.
    • Empirically supported treatments
      • Applied behavior analysis is a type of discipline that is applied in a genuine setting such as schools and clinics. This type of analysis deals with socially important issues such as learning disabilities and behavioral difficulties. (Hagopian & Boelter, 2005) Cognitive and adaptive functioning can also play a role in helping control problems faced with mental retardation.
      • The most effective treatment are individualized educational and skill plans that are based on the child's needs. The federal government mandates this and it as no extra cost to the family. A loving and supportive family is key to the treatment of mental retardation. Families can benefit from family therapy by learning to cope with the stress and other day-to-day activities involved with raising a child with mental retardation. Some children can go far in school while others cannot, it just depends on the severity of their retardation.
      • Preventing mental retardation can be done in a few ways. Avoiding alcohol and drugs, eating a healthy diet, and taking prenatal vitamins during pregnancy all are proactive steps to be taken to help prevent mental retardation. Also, getting children vaccinated against diseases such as measles can be helpful as well.
    • LinksHilly, Sam, Lucy and Megan, 4 friends with Down's Syndrome who share a house in Brighton with their friend Lewis who has Williams Syndrome Their lives are followed in the internet documentary series "The Specials"
    • Below is a demonstration of The Bayley Scale of Infant Development (BSID) performed on this little girl.

Organic MR
Cultural-familal MR
Individual shows a clear organic cause of mental retardation
Individual shows no obvious cause of retardation; sometimes another family member is also retarded
More prevalent at moderate; severe and profound levels of retardationEqual or near-equal rates across all ethnic and SES levelsMore often associated with other physical-disabilities
More prevalent in mild mental retardationHigher rates within minority groups and low SES groupsFew associated physical or medical disabilities
Prenatal (genetic disorders, accidents in utero)Perinatal (prematurity, anoxia)Postnatal (head trauma, meningitis)
Polygenic (i.e., parts of low IQ)Environmentally deprivedUndetected organic conditions


8. Mental Retardation, Severity Unspecified (319)

  • DSM-IV-TR Criteria
    • A. Significantly subaverage intellectual functioning: An IQ of approximately 70 or below on an individually administered IQ test ( for infants, a clinical judgment of significantly subaverage intellectual functioning).
    • B. Concurrent deficits or impairments in present adaptive functioning (i.e., the person's effectiveness in meeting the standards expected for his or her age by his or her cultural group) in at least two of the following areas: communication, self-care, home living, social/interpersonal skills, use of community resources, self-direction, functional academic skills, work, leisure, health, and safety.
    • C. The onset is before age 18 year
    • Code based on degree of severity reflecting level of intellectual impairment:
      317 Mild Mental Retardation: IQ level 50-55 to approximately 70.
      318.0 Moderate Mental Retardation: IQ level 35-40 to 50-55
      318.1 Severe Mental Retardation: IQ level 20-25 to 35-40
      318.2 Profound Mental Retardation: IQ level below 20 or 25
      319 Mental Retardation, Severity Unspecified: when there is strong presumption of Mental Retardation but the person's intelligence is untestable by standard tests.
  • Associated Features
    • Associated descriptive features and mental disorders. No specific personality and behavioral features are uniquely associated with Mental Retardation. Some individuals with Mental Retardation are passive, placid, and dependent, whereas others can be aggressive and impulsive. Lack of communication skills may predispose to disruptive and aggressive behaviors that substitute for communicative language. Some general medical conditions associated with Mental Retardation are characterized by certain behavioral symptoms (e.g., the intractable self-injurious behavior associated with Lesch-Nyhan syndrome). Individuals with Mental Retardation may be vulnerable to exploitation by others (e.g., being physically and sexually abused) or being denied rights and opportunities.
    • Individuals with Mental Retardation have a prevalence of comorbid mental disorders that is estimated to be three to four times greater than in the general population. In some cases, this may result from a shared etiology that is common to Mental Retardation and the associated mental disorder (e.g., head trauma may result in Mental Retardation and in Personality Change Due to Head Trauma). All types of mental disorders may be seen, and there is no evidence that the nature of a given mental disorder is different in individuals who have Mental Retardation. The diagnosis of comorbid mental disorders is, however, often complicated by the fact that the clinical presentation may be modified by the severity of the Mental Retardation and associated handicaps. Deficits in communication skills may result in an inability to provide an adequate history (e.g., the diagnosis of Major Depressive Disorder in a nonverbal adult with Mental Retardation is often based primarily on manifestations such as depressed mood, irritability, anorexia, or insomnia that are observed by others). More often than is the case in individuals without Mental Retardation, it may be difficult to choose a specific diagnosis and in such cases the appropriate Not Otherwise Specified category can be used (e.g., Depressive Disorder Not Otherwise Specified). The most common associated mental disorders are Attention-Deficit/Hyperactivity Disorder, Mood Disorders, Pervasive Developmental Disorders, Stereotypic Movement Disorder, and Mental Disorders Due to a General Medical Condition (e.g., Dementia Due to Head Trauma). Individuals who have Mental Retardation due to Down syndrome may be at higher risk for developing Dementia of teh Alzheimer's Type. Pathological changes in the brain associated with this disorder usually develop by the time these individuals are in their early 40s, although the clinical symptoms of dementia are not evident until later.
    • Associations have been reported between specific etiological factors and certain comorbid symptoms and mental disorders. For example, fragile X syndrome appears to increase the risk for Attention-Deficit/Hyperactivity Disorder and Social Phobia; individuals with Prader-Willi syndrome may exhibit hyperphagia and compulsivity, and those with William's syndrome may have an increased risk of Anxiety Disorders and Attention-Deficit/Hyperactivity Disorder
  • Gender and cultural differences in presentation
    • Mental Retardation is more common among males, with a male-to-female ratio of approximately 1.5:1.Care should be taken to ensure that intellectual testing procedures reflect adequate attention to the individual's ethnic, cultural, or linguistic background. This is usually accomplished by using tests in which the individual's relevant characteristics are represented in the standardization sample of the test or by employing an examiner who is familiar with aspects of the individual's ethnic or cultural background. Individualized testing is always required to make the diagnosis of Mental Retardation. The prevalence of Mental Retardation due to known biological factors, is similar among children of upper and lower socioeconomic classes, except that certain etiological factors are linked to lower socioeconomic status (e.g., lead poisoning and premature births). In cases in which no specific biological causation can be identified, the Mental Retardation is usually milder (although all degrees of severity are represented) and individuals from lower socioeconomic classes are overrepresented. Developmental considerations should be taken into account in evaluating impairment in adaptive skills because certain of the skill areas are less relevant at different ages (e.g., use of community resources or employment in school-age children).
  • Epidemiology
    • The prevalence rate of Mental Retardation has been estimated at approximately 1%. However, different studies have reported different rates depending on definitions used, methods of ascertainment, and population studied.
  • Etiology
    • The diagnosis of Mental Retardation requires that the onset of the disorder be before age 18 years. The age and mode of onset depend on the etiology and severity of the Mental Retardation. More severe retardation, especially when associated with a syndrome with a characteristic phenotype, tends to be recognized early (e.g., Down syndrome is usually diagnosed at birth). In contrast, Mild Retardation of unknown origin is generally noticed later. In more severe retardation resulting from an acquired cause, the intellectual impairment will develop more abruptly (e.g., retardation following encephalitis). The course of Mental Retardation is influenced by the course of underlying general medical conditions and by environmental factors (e.g., educational and other opportunities, environmental stimulation, and appropriateness of management). If an underlying general medical condition is static, the course is more likely to be variable and to depend on environmental factors. Mental Retardation is not necessarily a lifelong disorder. Individuals who had Mild Mental Retardation earlier in their lives manifested by failure in academic learning tasks may, with appropriate training and opportunities, develop good adaptive skills in other domains and may no longer have the level of impairment required for a diagnosis of Mental Retardation.


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