Chapter 27 - Pervasive Developmental Disorders and Childhood Psychosis

Richard Dalton
Marc A. Forman
Neil W. Boris

Pervasive developmental disorders include autistic disorder, Asperger disorder,

childhood disintegrative disorder, and Rett disorder.
27.1 Autistic Disorder
Autism develops before 36 mo of age and is typically diagnosable at 18 mo of age.
It is characterized by a qualitative impairment in verbal and nonverbal
communication, in imaginative activity, and in reciprocal social interactions.
Epidemiology.
Recent studies show prevalence rates ranging from 10 to 20 per 10,000 children.
There is controversy regarding whether the incidence of autism is increasing. The
disorder is much more common in males than females (34:1). Autism can be
associated with other neurologic disorders, particularly seizure disorders, and to a
lesser extent, tuberous sclerosis and fragile X syndrome.
Etiology.
The cause of autism is multifactorial. Genetic factors play a significant role. There is
a 6090% concordance rate for monozygotic twins and less than 5% concordance
rate for dizygotic twins. What is actually inherited is not entirely clear; language and
cognitive abnormalities are more common in relatives of autistic children than in the
general population. In various case reports on autistic children, anomalies have
been reported in all but three chromosomes, but most promising may be the
findings of deletions and duplications in chromosome 15.
Theories of causation have also centered on a variety of other possibilities,
especially pre- or perinatal brain injury. Deficits in the reticular activating system,
structural cerebellar changes, forebrain hippocampal lesions, and neuroradiologic
abnormalities in the prefrontal and temporal lobe areas have been documented.
Autistic children have also been reported to have an increase in brain volume in
several regions, and idiopathic infantile macrocephaly has been associated with
autism. Studies also demonstrate anatomic changes in the anterior cingulate gyrus,
an area of the brain associated with decision-making and the ascription of feelings
and thoughts. Abnormal neurochemical findings have also been associated with

autism, with dopamine, catecholamine, and serotonin levels or pathways

implicated. However, the literature on brain structure and function in autistic
children is conflicting and there is no diagnostic imaging or other test for autism.
Contrary to notions in vogue in the past, autism is not induced by parents. A
number of excellent epidemiologic studies have established that there is no
association between the use of measles-mumps-rubella vaccine and autism.
Clinical Manifestations.
Early measurable diagnostic symptoms and signs of autism include poor eye
contact, little symbolic play, limited joint attention or orienting to one's name, and
reliance on nonverbal communication with delay in use of words. Stereotypical body
movements, a marked need for sameness, and a very narrow range of interests, are
also common. The autistic child is often withdrawn and spends hours in solitary play.
Ritualistic behavior prevails, reflecting the child's need to maintain a consistent,
predictable environment. Tantrum-like rages may accompany disruptions of routine.
Eye contact is typically minimal or absent. Visual scanning of hand and finger
movements, mouthing of objects, and rubbing of surfaces may indicate a
heightened awareness and sensitivity to some stimuli, whereas diminished
responses to pain and lack of startle responses to sudden loud noises reflect
lowered sensitivity to other stimuli. If speech is present, echolalia, pronoun reversal,
nonsense rhyming, and other idiosyncratic language forms may predominate. Early
diagnosis of children at risk for autism can be facilitated by the use of the Checklist
for Autism in Toddlers (CHAT), a screening instrument. Research using home movies
of 1-yr birthday parties has shown that children at risk for autistic disorder can be
reliably identified at this age. These children do not share affect with caregivers by
pointing, communicating interest, or sharing in joint attention.
Intelligence by conventional psychologic testing usually falls in the functionally
retarded range; however, the deficits in language and socialization make it difficult
to obtain an accurate estimate of the autistic child's intellectual potential. Some
autistic children perform adequately in nonverbal tests, and those with developed
speech may demonstrate adequate intellectual capacity. Occasionally, an autistic
child may have an isolated, remarkable talent, analogous to that of the adult
savant.
Although first described as a social illness, subsequent studies have focused on the
communicative and cognitive deficits of autism and, particularly, on the types of
cognitive processing deficits most apparent in emotional situations. Autistic children
also show deficits in their understanding of what the other person might be feeling
or thinking, a so-called lack of a theory of mind. On some psychologic tests,
children with autism pay more attention to specific details while overlooking the
entire gestalt of the object, demonstrating a lack of central coherence.
Treatment.

Considerable advances have been made in the treatment of autism, especially

within the educational, psychosocial, and biologic areas. There is compelling
evidence that intensive behavioral therapy, beginning before 3 yr of age and
targeted toward speech and language development, is successful both in improving
language capacity and later social functioning. Treatment is most successful when
geared toward the individual's particular behavior patterns and language function.
Parent education, training, and support is always indicated, and pharmacotherapy
for certain target symptoms may be helpful.
Working with families of autistic children is vital to the child's overall care. Children
with autism require alternate educational approaches even when language capacity
is near normal. Such services in general have not yet been sufficiently developed to
provide adequate support and continuity of care. One successful educational model
is the program for the Treatment and Education of Autistic and Related
Communication Handicapped Children (TEACCH). The following treatment principles
are emphasized: use of objective measures such as the Childhood Autism Rating
Scale (CARS) to measure behavior and behavioral change; enhancement of skills
and acceptance by the environment of autism-related deficits; use of interventions
based on cognitive and behavioral theories; use of visual structures for optimal
education; and multidisciplinary training for all professionals working with autistic
children. Educational programming should begin as early as possible, preferably by
age 24.
Older children and adolescents with relatively higher intelligence but with poor
social skills and psychiatric symptoms (e.g., depression, anxiety, obsessivecompulsive symptoms) may require psychotherapy, behavioral or cognitive therapy,
and pharmacotherapy. Typically, behavior modification is a major part of the overall
treatment for older children with autism. These procedures include enhancement
(i.e., rewards emphasizing appropriate choice) and reduction (extinction, time-out,
punishment). Ethical concerns about vigorous aversive therapy approaches have led
to specific guidelines. Social skills training

94
is also currently used as a treatment modality and appears effective, especially in a
group format.
Unfortunately, there are unfounded claims of beneficial results from many unproven
therapies for autism, almost all of which have not been subjected to scientific study.
Those studies that have been done have discredited the technique of facilitated
communication and have shown that auditory integration therapy has no positive
effect. Claims of beneficial results from the use of secretin, a peptide hormone that
stimulates pancreatic secretion, have not been substantiated by scientific study.
Similarly, the dietary supplement N, N-dimethylglycine has no benefit.

Because a subgroup of autistic children present with psychiatric symptoms,

pharmacotherapy is sometimes used to ameliorate target behaviors. The behaviors
include hyperactivity, tantrums, physical aggression, self-injurious behavior,
stereotypes, and anxiety symptomsespecially obsessive-compulsive behaviors.
The older neuroleptics were limited in their usefulness because of their tendency to
produce extrapyramidal symptoms and tardive dyskinesia. Open label trials of the
newer atypical neuroleptics (e.g., risperidone, olanzapine) have shown effectiveness
in treating the above behaviors, and in some instances, have also improved social
relatedness (see Chapter 28.2 ).
Naltrexone, an opiate antagonist, was also originally touted as useful, especially for
self-injurious behavior, but its utility has not yet been proven. Clomipramine, a
tricyclic antidepressant with serotonin reuptake inhibition action, has demonstrated
usefulness in reducing compulsions and stereotypes in autistic children. However, it
does lower the seizure threshold, can cause agranulocytosis, and has cardiotoxic
and behavior toxicity effects. Other medicines used to treat psychiatric symptoms in
autistic children include the stimulants, the serotonin reuptake inhibitors (SSRIs),
and clonidine. The SSRIs, in particular, appear to be somewhat effective in
diminishing hyperactive, agitated, and obsessive-compulsive behaviors, although
there have not yet been sufficient, controlled studies regarding their utility
( Chapter 28.2 ).
Prognosis.
Some children, especially those with speech, may grow up to live self-sufficient,
employed, albeit isolated, lives in the community. Many others remain dependent
on family for their everyday lives or require placement in facilities outside the
home. Because early, intensive therapy may improve language and social function,
delayed diagnosis may lead to worse outcome. There is no increased risk for the
development of schizophrenia in adulthood but the cost of delayed diagnosis across
the life span is high. A better prognosis is associated with higher intelligence,
functional speech, and less bizarre symptoms and behavior. The symptom profile for
some children may change as they grow older and seizures or self-injurious behavior
becomes more common.
27.4 Rett Disorder
This is an X-linked dominant disorder affecting girls almost exclusively; boys
affected with the disorder die at birth. It has a prevalence of 1/10,000. Development
proceeds normally until approximately 12 yr of age, at which time language and
motor development regress and acquired microcephaly becomes apparent. These
girls present with midline, stereotypic hand-wringing, ataxia, breathing dysfunction,
bruxism, scoliosis, and profound intellectual handicap. Autistic behaviors are typical,
but over time, social relatedness may improve. Lower limb involvement may
progress, leading to wheelchair dependency later in life. Postmortem examinations

have revealed greatly reduced brain size and weight as well as number of synapses.
A gene that causes Rett syndrome has been identified; it encodes the methyl CpGbinding protein 2 (MeCP2).
REFERENCES

American Academy of Child and Adolescent Psychiatry: Practice parameters for the
assessment and treatment of children, adolescents, and adults with autism and
other pervasive developmental disorders. J Am Acad Child Adolesc Psychiatry
1999;38(Supp):32S54S.

American Academy of Child and Adolescent Psychiatry: Practice parameters for the
assessment and treatment of children and adolescents with schizophrenia. J Am
Acad Child Adolesc Psychiatry 2001;40(Supp):4S23S.

American Academy of Neurology: Practice parameter: Screening and diagnosis of

autism. Neurology 2000;55:46879.

Amir RE, Van den Veyver IB, Wan M, et al: Rett syndrome is caused by mutations in
X-linked MECP2, encoding methyl-CpG-binding protein 2. Nat Genet 1999;23:185
90.

Baron-Cohen S, Wheelwright S, Cox A, et al: Early identification of autism by the

checklist for autism in toddlers (CHAT). J R Soc Med 2000;93:5215.

Cook EH Jr: Genetics of autism. Child Adolesc Psychiatr Clin of N Am 2001;10:333

50.

Dales L, Hammer SJ, Smith NJ: Time trends in autism and in MMR immunization
coverage in California. JAMA 2001;285:11835.

Eliez S, Reiss AL: MRI neuroimaging of childhood psychiatric disorders: A selective

review. J Child Psychol Psychiatry 2000;41:67994.

Lombroso PJ: Genetics of childhood disorders: XIV. A gene for Rett syndrome: News
flash. J Am Acad Child Adolesc Psychiatry 2000;39:6714.

Posey DJ, McDougle CJ: The pharmacotherapy of target symptoms associated with
autistic disorder and other pervasive developmental disorders. Harv Rev Psychiatry
2000;8:4563.

Rapoport JL, Inoff-Germain G: Update on childhood-onset schizophrenia. Curr

Psychiatry Rep 2000;2:4105.

Rogers SJ: Interventions that facilitate socialization in children with autism. J Autism
Dev Disord 2000;30:399409.

Sandler AD, Sutton KA, DeWeese J, et al: Lack of benefit of a single dose of synthetic
human secretin in the treatment of autism and pervasive developmental disorder. N
Engl J Med 1999;341:18016.

Tanguay PE: Pervasive developmental disorders: A 10-year review. J Am Acad Child

Adolesc Psychiatry 1999;39:107995.