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Autism

(11-19-13)

Autism Spectrum Disorders (formerly Pervasive Developmental Disorders)

“The essential features of autism spectrum disorder are persistent impairment in reciprocal social communication and social interaction (Criterion A) and restrictive, repetitive patterns of behavior, interests, or activities (Criterion B). These symptoms are present from easly childhood and limit or impair everyday functioning (Criteria C and D).”

(DSM 5, p. 53)

one of many good references: Bradshaw, J.L. (2001). Developmental Disorders of the Frontostriatal System: Neuropsychological, neuropsychiatric and evolutionary perspectives. East Sussex, UK: Psychology Press Ltd.

Pervasive Developmental Disorders

Characterized by severe and pervasive impairment in several areas of development: social interaction, communication, age normal interests and activities.

The terminology “pervasive developmental disorder” is controversial, because the grouping has been restricted (in DSM) to autistic like disorders: “social communicative disorders”, “autistic spectrum disorder”, “autism and autistic-like conditions”, and “disorder of social interaction, communication, and imagination) have been suggested as alternatives (Harris, 1998).

  • Autistic Disorder (Autism): impairments in social relationships, and communication, and markedly restricted repertoire of activities and interests.
    • Onset prior to 36 months (by definition)
    • Course usually continuous and life long
  • Asperger’s Disorder: severe and sustained impairment in social interaction and development of restricted, repetitive patterns of behavior, interests, and activities.
    • Language development is unremarkable
    • Cognitive development and age-appropriate adaptive behavior essentially normal
    • Appears to be more common in males
    • Course usually continuous and life long
  • Rett’s Disorder: development of multiple deficits following a period of normal development after birth. No longer viewed as a PDD (because etiology better understood)
    • Characteristics:
      • Apparently normal prenatal and perinatal development
      • Onset between 5 and 48 months
      • Loss of purposeful movement, loss of social engagement, severely impaired language development
      • Head growth decelerates
      • Clinical population almost entirely female (genotype usually fatal in males)
        • This position may need to be revised in light of reports that Rett’s syndrome like patterns have been observed in mildly impaired females and severely impaired males (Shevell et al., 2003)
      • Usually associated with Severe or Profound Mental Retardation
    • Course usually continuous and life long
      • Second only to Down Syndrome as known cause of global developmental delay in females (Shevell et al., 2003)
    • Conceptualization/Etiology:
      • Second only to Down Syndrome as known cause of global developmental delay in females (Shevell et al., 2003)
    • Conceptualization/Etiology:
      • Approximately 80% of cases have MECP2 mutation: mutation in the X-linked gene encoding methyl-CpG-binding protein 2 (MECP2 mutation)
      • Increasing viewed, along with Childhood Disintegrative Disorder, as a neurological/neurodegenerative rather than mental disorder and may have limited relationship to autism spectrum disorders (Autistic Disorder, Asperger’s Disorder, atypical autism). (See discussions in Brock, Jimerson, & Hansen, 2006; Harris, 1998)
    • An excellent discussion of Rett’s Syndrome is Barbro Lindberg (2006) revised edition of her earlier (1991) report of a study of 39 women between 2 and 39 years of age conducted between 1985 and 1986.
  • Childhood Disintegrative Disorder: marked regression in multiple areas of functioning after at least two years of apparently normal development.
    • Conceptualization:
      • Very rare, much less prevalent than Autistic Disorder
      • More common in males
      • Course usually continuous and life long
      • Usually associated with Severe Mental Retardation
    • Increasing viewed, along with Rett’s Syndrome, as a neurological/neurodegenerative rather than mental disorder and may have limited relationship to autism spectrum disorders (Autistic Disorder, Asperger’s Disorder, atypical autism). (See discussions in Brock, Jimerson, & Hansen, 2006; Harris, 1998)
  • Pervasive Developmental Disorder Not Otherwise Specified
    • meet essential characteristics of PDD but not specific diagnoses of AD, AspD, RD, or CDD: heterogenious “left-overs”, borderline/mild severity cases, and so called “atypical autism” (unusally an autistic disorder pattern of symptoms with onset after the 36 month criterion)

Other pervasive developmental disorders, not included in DSM-IV

  • ICD-10
    • Atypical Autism
    • Overactive Disorder Associated With Mental Retardation
  • possibly related topics
    • Nonverbal Learning Disabilities (NVLD)

Autism

(2-19-15)

Defining Features:

Kanner’s Syndrome: Leo Kanner (1943) — “early infantile autism”: 11 children, 17 symptoms, 3 key features:

  1. An inability to relate to people, apparent early in life
  2. Particular use of language: a failure to use language for interactive conversation, e.g., to communicate
  3. An “obsessive desire for the maintenance of sameness” associated with a “limitation in the variety of spontaneous activity”

These three core difficulties remain the basis of most current definitions of Autistic Disorder (DSM 5 altered the previous criteria to “persistent deficits in social communical and social interaction” and “restrictive, repetitive patterns of behavior, interests, or activities”):

  • Social deficits
    • “The most essential feature of an autistic disorder is a qualitative abnormality in social interaction.” (Harris, 1998, p. 192)
  • Deficits in Communication
    • Most frequent presenting concern by parents (Harris, 1998)
  • Restricted activities
    • repetitive patterns of movement (stereotypies and mannerisms), resistance to change in routine and environment, preoccupations, constricted repertoires of behavior

Prevalence: originally autism was viewed as a very low frequency disorder:

  • 5 cases per 10,000 is cited as median prevalence rate by DSM-IV-TR (2000)
  • Using a narrow definition the prevalence rate is approximately 2 per 10,000 (Harris, 1998); for disorders with “autistic-like” symptoms the rate increases to 12 to 15 per 10,000 (Harris, 1998)
  • The UCLA-University of Utah Epidemiologic Survey of Autism Prevalence Study in 1983 estimated the incidence rate of autism in Utah to be 4 in 10,000.
    (Utah Autism and Developmental Disabilities Monitoring (ADDM) Project)

More recent reports have suggested much higher prevalence rates

  • 1 in 150 for ASD (autistic spectrum disorders), with some estimates evern higher (1 in 78)

4 – 5 males per each female

  • (females with Autism more likely to have severe Mental Retardation or show more severe autistic symptoms)

Is the prevalence of autism increasing?

Several recent reports have raised the possibility that the prevalence of autism may be increasing in the United States. This is currently under investigation but there appears to be some support.

Issues:

  1. definition and changing definitions
  2. changing public and professional awareness
    • Autism was added to the IDEA reauthorization of 1991
    • early reports of association with SES is now viewed as reflecting a lack of access to services that would have lead to a diagnosis of autism (Tidmarch & Volkmar, 2003)
    • early association with parental characteristics were inaccurate and probably relected failure to consider “invisible selective factors” in the initial identified clinical samples: “Kanner’s big error”
  3. milder and borderline cases
  • Onset: by definition less than 3 years of age
  • Course: usually continuous
    • symptoms may change over time
  • Familial: increased risk among siblings (approximately 3% recurrence risk or “60 to 100 times the base rate in the general population” Harris, 1998, p. 196)
    • Rate of mental retardation in siblings not elevated
    • Rate of language (pragmatic communication), social, and cognitive difficulties in siblings is elevated
  • Associated symptoms:
    • Mental Retardation in approximately 75% (75-80% Harris, 1998)
      • Uneven profile of cognitive skills
      • Savant performances occur in a minority of children with autism
    • Behavior & emotional problems
      • aggression, hyperactivity, oppositional behavior
      • self-injurious behavior
      • anxiety, fears, sleep, eating disturbance
    • Movement disturbances: rocking, gesturing
    • Odd responses to sensory stimuli
    • Seizures develop in adolescence in approximately 25% of children diagnosed with Autism.
  • Theories regarding the etiology of autism
  • Treatments of autism

Idiot Savant Performance

(2-24-15)

“Savant Syndrome”, also know as “splinter skills”, refers to exceptional abilities in an individual with behavior deficits in many/most other areas

No well agreed upon operational definition, therefore: prevalence figures are therefore suspect

Characteristic, but not necessarily common, associated feature of autism

Talented individuals (with autism) tend to show concrete thinking and limited ability to think abstractly. Talents are usually in the areas of music, art, mathematics, or construction. There is usually no indication of creativity in the efforts–most performances reproduce a production the individual uses as a model.

However, there are rare instances of genuinely creative and gifted behavior in individuals with Autism or autistic like syndromes.

  • Temple Grandin
    • Dr. Grandlin is a professor, author, inventor; and has been seen as an individual with an autistic spectrum disorder across her life
  • Raqjarski Mukhopadhyay, known as Tito
    • “The Mind Tree” are other poems attributed to Tito show great creativity, but there are questions

Asperger Syndrome

Hans Asperger, a Viennese psychiatrist, published a paper in 1944 describing four children with a type of social disability–tendencies toward social withdrawal, interpersonal awkwardness–as well as other “autistic” like features: self-stimulatory behavior and insistence on environmental sameness, but with normal cognitive abilities and language.

Asperger, H. (1944). Die ‘Autistischen Psychopathen’ im Kindesalter. Archiv fur Psychiatrie und Nervenkrankheiten, 117, 76-136.

  • Current conceptualizations of Asperger Syndrome
    • In DSM-5 Asperger’s Disorder was collapsed with other pervasive developmental disorders into the Autism Spectrum Disorder category
    • In DSM-IV Asperger syndrome was grouped as a Pervasive Developmental Disorder, along with Autistic Disorder, Rett’s Syndrome, Childhood Disintegrative Disorder, and PDD-NOS (not otherwise specified)
      • DSM-IV defines Asperger Disorder in terms of two symptoms clusters:
        • an qualitative impairment in social interactions; as reflected in:
          • difficulty with social or emotional reciprocity
          • not seeking out social contacts and interactions
          • absence of developmentally appropriate peer relationships
          • impaired nonverbal behavior (eye contact, interactive gestures, facial expression)
        • repetitive and restricted stereotyped patterns of behavior, activities, and interests; as reflected in:
          • preoccupation with parts of objects
          • stereopathies (hand or finger flapping or twisting; repetitive, nonpurposeful body movements, repetitive and nonfunction uses of objects)
          • inflexible adherence to rituals or routines
          • preoccupations with a narrow and restricted interest
      • These are two of the three defining symptom clusters for Autistic Disorder
      • What differentiates Asperger Disorder from Autistic Disorder is the presence of relative normal language, and secondarily better cognitive functioning and adaptive adjustment than comparable children with autism
      • Nevertheless, the differentiation of Asperger syndrome from autism, especially high-functioning autism, remained somewhat controversial
  • Epidemiological characteristics
    • Asperger syndrome is approximately 2 to 3 times more common in males than females

Childhood-Onset Schizophrenia

Madness, lunatics, and demonic possession

  • Psychosis referes to a group of severe mental disorders involving delusions, hallucinations, disorganized thinking, grossly disorganized or abnormal motor behavior, and negative symptoms
  • Kraepelin dementia praecox: dementia of adolescence
  • Bleuler the schizophrenias
    • Bleuler’s 4 A’s:
      • autism
      • affect
      • ambivalence
      • anhedonia

“childhood schizophrenia”

  • Bender
  • Kanner
  • Potter
  • Creak

Kolvin studied psychosis in children:

  • children with onset between 5 & 15 showed hallucinations, delusions, and formal thought disorder
  • children with onset before 3 showed autistic symptoms but not schizophrenic symptoms

Rutter showed that autistic children followed into adulthood did not show symptoms of schizophrenia

on the other hand: autism is not a protective factor for schizophrenia and comorbid occurrence has been reported in some individuals; the issue of any overlap between these two conditions beyond change association continues to be investigated. General conclusion: schizophrenia is rare is individuals with ASD, as it is rare in the general population

Schizophrenia

  • core symptoms:
    • Delusions
    • Hallucinations
    • Disorganized speech (looseness of associations)
    • Grossly disorganized or catatonic behavior
    • Negative symptoms: flat affect, alogia, avolition
      • Delusions, hallucinations, looseness of association, catatonic and agitated behavior are referred to as “positive symptoms” (behavior excesses; florid psychosis); the negative symptoms (behavior deficits; deficit syndrome) are both more subtle and possibly more serious in terms of long-term adjustment.
  • course: diagnosis requires a sustained course for at least 6 months
    • childhood onset cases usually show a more chronic and severe course
  • prevalence of onset of schizophrenia in childhood: rare
    • North Dakota data:
      • 0.19 per 10,000 children between 2 & 12
        • for contrast: prevalence in adult population (with usual onset between 15 and 20) is approximately 1%
    • sex ration: more Males than Females (for contract: app. = in adolescence/adult onset cases)
    • cultural variation: very limited (based primarily on WHO adult data)
  • associated deficits:
    • language, visual perception, and memory–only when extensive demands are made on processing capacity
    • visual-motor coordination & fine-motor speed
    • executive functions
  • risk factors:
    • genetic risk
    • environmental stressors
    • prenatal viral infections (esp. 2nd trimester)
    • pregnancy & birth complications
    • psychosocial stressors
    • family conflict, poor communication, poor problem solving, high expressed emotion
    • schizotypal personality disorder
  • protective factors:
    • child factors
    • intellectual competence
    • social competence
    • environmental
    • social support
    • family problem solving
  • differential considerations:
    • onset pattern: insidious (process) vs. acute (reactive)
    • onset age:
    • premorbid adjustment:
    • post-episode state:
    • predominance of negative symptoms:
      • Childhood-Onset Schizophrenia (COS) (material from Kumra, Shaw, Merka, Nakayama, & Augustin, 2001)
      • Research supports the conclusion that childhood- and adult-onset schizophrenia represent the same disease process.
      • Childhood-onset schizophrenia (COS): onset of psychotic symptoms by age 12 years.

Similarities between adolescents with COS & adults with schizophrenia

  • Clinical presentation
    • Schizophrenia can be reliably diagnosed in children and adolescents using unmodified adult criteria (also Asarnow, Tompson, & McGrath, 2004)
  • Neuropsychological test performance
    • cognitive deficits–
      • attention
      • executive functioning
      • verbal recall
      • visuospatial abilities
      • fine motor skills
    • Similar cognitive impairment seen in relatives & offspring
    • Patients with COS appear to show a decline in FSIQ during adolescence, this does not appear to reflect deterioration but an inability to acquire new information & skills relative to healthy children
  • Autonomic functioning
    • abnormalities in peripheral indicators of autonomic nervous system activity, such as skin conductance and heart rate, have been reported in both adult-onset and COS
  • Smooth-pursuit eye movement
    • 40-80% of patients with adult-onset schizophrenia have abnormalities in smooth-pursuit eye movements (SPEM). 30-50% of first-degree biological relatives show similar abnormalities, as well as children of parents with schizophrenia. Patients with COS and their first-degree relatives show similar eye-tracking abnormalities.
  • Anatomic brain MRI & MRSI
    • structural magnetic resonance imaging (sMRI) studies have found similar abnormalities in adults and child-onset cases of schizophrenia:
    • deficit in cortical gray matter volume and enlargement of cortical sulcal and ventricular cerebrospinal fluid volumes.
    • evidence has also found small vermal size in adult onset and COS cases, suggesting abnormal cerebella function
    • however–“no sMRI abnormality has been consistently found in all affected individuals, and for each measure there is considerable overlap between patients and healthy control subjects.” p. 925
    • Magnetic Resonance Spectroscopic Imaging (MRSI): new imaging technique that allows regional quantification of brain chemistry.
    • an MRSI study of patients with COS revealed decreased in brain chemistry ration of N-acetylaspartate (NAA) to creatin (CRE)–a putative marker of neuronal integrity–exclusively in the prefrontal cortex and hippocampus.

Differences in childhood-onset schizophrenia

  • more severe premorbid abnormalities
    • across studies, the rates of language impairment, transient autistic-like symptoms, and nonspecific symptoms appear higher in COS than in adult-onset patients
  • more cytogenetic abnormalities
    • microdeletions of chromosome 22q11 have been reported more frequently in COS (6.4%) than in adult-onset schizophrenia (2.0%) than in the general population (0.2%)
  • greater family histories
    • elevated rate of schizophrenic spectrum disorders (schizoaffective disorder & schizotypal & paranoid personality disorders) has been reported in studies of COS

Hypothesis: greater genetic vulnerability in COS, which may result in earlier symptom development

Postpsychotic IQ Decline in Childhood-Onset Schizophrenia

Bedwell, Keller, Smith, Hamburger, Kumra, & Rapoport (1999) investigated changes in IQ subtest results in a group of children and adolescents who had been diagnosed with schizophrenia prior to age 12 (COS). They concluded that the decline in Full Scale IQ observed over time with COS reflected primarily the inability to learn new information and abilities, and not dementia. They did report a significant correlation between decrease in hippocampal volume and smaller increases in raw scores on the Information subtest.

Adult outcome of youth diagnosed with COS

COS is predictive of schizophrenia or schizophrenia spectrum disorders in adulthood (Asarnow, Tompson, & McGrath, 2004)

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