Pervasive Developmental Disorders
The pervasive developmental disorders include a group of conditions in which there is impairment in the development of social skills, language and communication, and behavioral repertoire. Children with pervasive developmental disorders often exhibit idiosyncratic intense interest in a narrow range of activities, resist change, and are not appropriately responsive to the social environment. These disorders affect multiple areas of development, manifest early in life, and cause persistent dysfunction. Autistic disorder, the best known of these disorders, is characterized by sustained impairment in comprehending and responding to social cues; aberrant language development and usage; and restricted, stereotypical behavioral patterns. More than two-thirds of children with autistic disorder have mental retardation, although it is not required for the diagnosis.
There are five pervasive developmental disorders: autistic disorder, Rett syndrome, childhood disintegrative disorder, Asperger’s disorder, and pervasive developmental disorder not otherwise specified. Rett syndrome is characterized by normal development for at least 6 months. The deterioration that follows includes stereotyped hand movements, a loss of purposeful motions, diminishing social engagement, poor coordination, and decreasing language use. In childhood disintegrative disorder, development progresses normally for the first 2 years, after which the child shows a loss of previously acquired skills in two or more of the following areas: language use, social responsiveness, play, motor skills, and bladder or bowel control. Asperger’s disorder is a condition in which the child is markedly impaired in social relatedness and shows repetitive and stereotyped patterns of behavior without a delay in language development. In Asperger’s disorder, a child’s cognitive abilities and adaptive skills are normal.
Students should study the questions and answers below for a useful review of these disorders.
Helpful Hints
Students should know the following terms related to pervasive developmental disorders.
acquired aphasia
Asperger’s disorder
autistic disorder
childhood disintegrative disorder
echolalia
ego-educative approach
enuresis
grand mal seizure
Heller’s syndrome
“idiot savant”
language deviance and delay
monotonous repetition
organic abnormalities
parental rage and rejection
perinatal complications
pervasive developmental disorder
Purkinje’s cells
Rett syndrome
rote memory
seizures
self-injurious behavior
sex distribution
splinter function
stereotypy
tardive and withdrawal dyskinesias
voice quality and rhythm
Questions
Directions
Each of the questions or incomplete statements below is followed by five suggested responses or completions. Select the one that is best in each case.
41.1 In which disorder or syndrome does head growth begin to decelerate between the ages of 6 months and 1 year?
A. Fragile X syndrome
B. Autistic disorder
C. Rett syndrome
D. Learning disorder
E. Asperger’s disorder
View Answer
41.1 The answer is C
Rett syndrome is a progressive condition that develops after some months of apparently normal development. Head circumference is normal at birth, and early developmental milestones are unremarkable. Between 5 and 48 months (usually between 6 months and 1 year), head growth begins to decelerate. Purposeful hand movements are lost, and characteristic midline hand wringing or hand washing stereotypies develop. Expressive and receptive language skills become severely impaired and are associated with marked mental retardation. In the preschool years, gait apraxia and truncal apraxia and ataxia develop.
Fragile X syndrome is the second most common cause of mental retardation. It is characterized by a long jaw, prominent ears, and macroorchidism. Asperger’s disorder is characterized by impairment in social relatedness. Patients also exhibit stereotyped behaviors but do not have language impairment. Autistic disorder and learning disorders do not include changes in head growth.
41.2 Neurological-biochemical abnormalities associated with autistic disorder include
A. grand mal seizures
B. ventricular enlargement on computed tomography (CT) scan
C. electroencephalogram (EEG) abnormalities
D. increased total brain volume
E. all of the above
View Answer
41.2 The answer is E (all)
An abundance of evidence exists demonstrating associations between autistic disorder and a variety of biological abnormalities. Estimates of lifetime occurrence of grand mal seizures ranges between 4 and 32 percent. Recent neuroimaging studies suggest a pattern of increased and then decreased rate of brain growth over time; increased total brain volume is noted in many individuals with autism. Ventricular enlargement on CT scan is observed in 20 to 25 percent of individuals with autism. Although no EEG findings are specific for autism, abnormalities are common in the disorder; estimates of prevalence of EEG abnormalities range from 10 to 83 percent, and failure of cerebral lateralization is a typical finding. One-third of children with autism demonstrate elevated serum serotonin levels; the significance of this finding is uncertain, particularly given similar rates of hyperserotoninemia in children with severe mental retardation.
41.3 True statements about autistic disorder include which of the following?
A. Prevalence rates may be as high as one in 1,000 children.
B. Girls outnumber boys in individuals with autism without mental retardation.
C. Abnormalities in functioning must be present by age 2 to meet the text revision of the fourth edition of the Diagnostic and Statistical Manual of Mental Disorders (DSM-IV-TR) diagnostic criteria.
D. There is an established and conclusive association between autism and upper socioeconomic status.
E. All of the above
View Answer
41.3 The answer is A
Autistic disorder is characterized by marked and sustained impairment in social interaction, delayed and aberrant communication skills, and a restricted repertoire of activities and interests. To meet criteria for diagnosis, abnormal functioning in at least one of these areas must begin by age 3 (not 2) years. Mental retardation is the most common comorbid condition with autism: approximately 75 percent of children with autism are also mentally retarded. Accumulating evidence indicates that prevalence rates for autistic disorder may be as high as one in 1,000 children.
Autistic disorder is four to five times more likely in boys than in girls. Girls with autism are more likely to have severe mental retardation than boys with autism. Among children with autism with normal intelligence, the ratio of boys to girls may be as high as 6 to 1, but among children with autism with moderate to severe mental retardation, the ratio of boys to girls may be as low as 1.5 to 1. There is no clear explanation for girls’ underrepresentation among children with autism who do not have mental retardation; one hypothesis suggests that more severe brain dysfunction is required to cause autism in girls.
Although early work on the epidemiology of autism suggested an association between the disorder and higher socioeconomic status, more recent and methodologically sophisticated studies have failed to confirm this relationship. Nevertheless, families from disadvantaged backgrounds appear underrepresented in clinically referred samples.
41.4 True statements about the role of genetics in autistic disorder include which of the following?
A. Unaffected siblings are not at increased risk for language problems.
B. The role of genetic factors in autistic disorder is not well established.
C. Family studies show a prevalence of approximately 2 to 3 percent of autism among siblings of children with autism.
D. Twin studies indicate only moderate concordance for monozygotes.
E. It is clear that what is inherited is a specific predisposition to autistic disorder.
View Answer
41.4 The answer is C
Although early theories focused on now-discredited theories of faulty parenting as etiologic factors in autism, current evidence strongly supports biological and genetic factors as causal. Studies of twins indicate high (not moderate) concordance among monozygotic twins, with reduced concordance for dizygotic twins. However, environmental influences are also important because concordance in monozygotic twins is less than 100 percent, and the phenotypic expression of the disorder varies widely, even within monozygotic twins.
Family studies have shown a prevalence of approximately 2 to 3 percent of autism in siblings of children with autism, which represents a 50- to 100-fold increase in risk compared with the general population. Even when not affected with autism, siblings of children with autism are at increased risk for various developmental problems, particularly language and cognitive difficulties. It is unclear whether what is inherited is a specific predisposition to autism or a more general predisposition to developmental issues.
Family studies reveal increased rates of mood disorders, anxiety disorders, and social difficulties among first-degree relatives of individuals with autism. Although the influence of genetic factors on autistic disorder is now well established, specific modes of inheritance are unknown. Current research seeks to elucidate further details of the genetics of the disorder.
41.5 The most frequent presenting complaint of parents about their child with autism is
A. their lack of usual play skills
B. delays in the acquisition of language
C. stereotyped movements
D. their lack of interest in social interaction
E. their difficulty tolerating change and variations in their routines
