Pervasive Developmental Disorders and Childhood Psychosis

Nelson Series

Pervasive Developmental Disorders/Autism Spectrum Disorders

Autism Asperger Syndrome Rett Syndrome Childhood disintegrative disorder Clinically significant regression in skills (language, social skills, bowel, bladder control, play motor skills) before 10 yr of age Pervasive developmental disorder not otherwise specified Features of 1 of the other autism spectrum disorders, but insufficient for a diagnosis of autism specifically

Delayed and disordered communication

Similar to autism except language relatively intact

Almost always affects girls

Atypical social interaction Restricted range of interests Onset before 3 years of age

Usually not cognitively delayed

Regression in skills between 6 and 18 mo of age Repetitive hand movements

Pervasive Developmental Disorders/Autism Spectrum Disorders

Epidemiology
The prevalence rate of all pervasive developmental disorders appears to be 58.7 per 10,000 children. This prevalence rate includes autism (22/10,000), Asperger syndrome (11/10,000), Pervasive Developmental Disorder not otherwise specified (24.8/10,000), and child disintegrative disorder (0.9/10,000).

 Alan As an infant, Alan was playful and affectionate. At 6 months old, he could sit up and crawl. He began to walk and say words at 10 months and could count by 13 months. One day, in his 18th month, his mother found him sitting alone in the kitchen, repeatedly spinning the wheels of her vacuum cleaner with such persistence and concentration, he didn't respond when she called. From that day on, she recalls, "It was as if someone had pulled a shade over him." He stopped talking and relating to others. He often tore around the house like a demon. He became fixated on electric lights, running around the house turning them on and off. When made to stop, he threw a tantrum, kicking and biting anyone within reach.

Autism Spectrum Disorder

neurodevelopmental disorder of unknown etiology, but with a strong genetic basis typically diagnosed before 36 mo of age characterized by a behavioral phenotype that includes qualitative impairment in the areas of language development or communication skills, social interactions and reciprocity, and imagination and play See diagnostic criteria

Autism Spectrum Disorder

all children with autism manifest some degree of impairment in the areas of reciprocal social interaction, communication, and restrictive and repetitive stereotypical patterns of behavior, interests, or activities although there is no pathognomonic symptom or behavior seen, most children have some impairment in joint attention or pretend play

Autism Spectrum Disorder

Joint Attention
ability to use eye contact and pointing for the purposes of sharing experiences with others typically develops by 18 mo other precursor skills to joint attention that are often absent in children with autism are protoimperative pointing (the use of pointing to obtain an object of desire) and protodeclarative pointing (the use of pointing to an object of interest simply to have another share in the interest with him or her) the symptoms of autism can vary in the severity of their presentation

Autism Spectrum Disorder

Verbal Abilities
can range from being nonverbal to having advanced speech, capable of imitating songs, rhymes, or television commercials most notable in children with autism is the quality of their speech and language speech may have an odd prosody or intonation and may be characterized by echolalia, pronoun reversal, nonsense rhyming, and other idiosyncratic language forms

Autism Spectrum Disorder

Intellectual functioning
vary from mental retardation to superior intellectual functioning in select areas Some children with autism show typical development in certain skills and may even show areas of strength in specific areas, such as puzzles, art, or music Play skills in children with autism are typically aberrant, characterized by little symbolic play, ritualistic rigidity, and preoccupation with parts of objects

Autism Spectrum Disorder

Stereotypical body movements, a marked need for sameness, and a very narrow range of interests are also common The child is often withdrawn and spends hours in solitary play Ritualistic behavior - reflecting the child's need to maintain a consistent, predictable environment Disruptions of routine Tantrum-like rages Eye contact is typically minimal or absent Visual scanning of hand and finger movements, mouthing of objects, and rubbing of surfaces heightened awareness of and sensitivity to some stimuli Diminished responses to pain and lack of startle responses to sudden loud noises lowered sensitivity to other stimuli.

Autism Spectrum Disorder

6090% concordance rate for monozygotic twins and a 0% concordance rate for dizygotic twins 92% concordance rate for monozygotic twins and a 30% concordance rate for dizygotic twins for the broader spectrum of social and communication difficulties it is believed that multiple genes interact with varied environmental causes to produce the disorder, and that the causative genes may vary from one population to another

Autism Spectrum Disorder

certain genes are believed to be more strongly implicated in the heritability of autism
chromosome 7q (seen in the similar behavioral phenotype of specific language impairment disorder) chromosome 2q chromosome 15q1113 (seen in Prader-Willi syndrome and Angelman syndrome, both of which manifest traits of rigidity and stereotypical behaviors)

Autism Spectrum Disorder

Autism and Asperger disorder are 4 and 8 times more prevalent in males than in females, respectively, suggesting a strong Xlinked component. has also been linked with other neurodevelopmental disorders, including seizure disorder, fragile X syndrome, and tuberous sclerosis. autism is not associated with certain emotionally distant parenting styles (refrigerator mothers). Many excellent epidemiologic studies have established that there is no association between the administration of the measles-mumps-rubella vaccine and the development of autism

Autism Spectrum Disorder

Retrospective analysis of head circumference in children with autism, in conjunction with MRI studies, has shown differences in the brain structure of children with autism compared with children without autism. The head circumference of children with autism is normal or slightly smaller than normal at birth until 2 mo of age. Longitudinal studies of children with autism showed an abnormally rapid increase in head circumference from 614 mo of age, which was largely concluded by the end of the 2nd yr of life.

Autism Spectrum Disorder

MRI studies done at 24 yr of age show that autistic toddlers have increased brain volume characterized by increased volume of the cerebellum, cerebrum, and amygdala compared with normal volumes. The abnormal growth in the first 2 yr is most marked in the frontal, temporal, cerebellar, and limbic regions of the brain, the areas of the brain responsible for higherorder cognitive, language, emotional, and social functions, which are most impaired in autism.

Autism Spectrum Disorder

It is believed that the early abnormal growth processes in the brain in the first 2 yr of life underlie the emergence of preclinical behavioral abnormalities seen in autism. This period of early, accelerated brain growth appears to stop early in childhood and is followed by abnormally slow or arrested growth, resulting in areas of underdeveloped and abnormal circuitry in parts of the brain.

Autism Spectrum Disorder

Diagnosis
Aberrant social skill development is the hallmark of autism spectrum disorders (ASDs), and early social skill deficits may include abnormal eye contact, failure to orient to name, failure to use gestures to point or show, a lack of interactive play, failure to smile, lack of sharing, and lack of interest in other children. Important early RED FLAGS Combined language and social delays and regression in language or social milestones Early signs include unusual use of language or loss of language skills, nonfunctional rituals, inability to adapt to new settings, lack of imitation, and absence of imaginary play

Autism Spectrum Disorder

Diagnosis
Several screening tools have been developed to aid in the early detection of children with ASDs.
The Checklist for Autism in Toddlers (CHAT) is a screening tool designed for use with 18 mo old children in primary care settings. The Modified Checklist for Autism in Toddlers (M-CHAT) is a 23item parent questionnaire modified from the CHAT. It has shown good sensitivity and specificity (0.87% and 0.99%, respectively), which suggests its utility as a screening tool. The Pervasive Developmental Disorders Screening Test (PDDST) is a parent-completed survey that targets children from birth3 yr of age and incorporates a 3-tiered approach: 1 for the primary care clinic, 1 for the developmental clinic, and 1 for the multidisciplinary autism clinic.

Autism Spectrum Disorder

Diagnosis
In children with ASDs, intelligence, as measured by conventional psychologic testing, usually falls in the functionally retarded range Deficits in language and socialization make it difficult to obtain an accurate estimate of the autistic child's intellectual potential.

Autism Spectrum Disorder

Diagnosis
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.

Autism Spectrum Disorder

Diagnosis
Do a thorough physical examination, with special attention paid to head circumference Twenty-five percent of children with an ASD can have macrocephaly, but enlarged head size may not be apparent until after the 2nd yr of life An audiologic evaluation and a comprehensive speech and language evaluation should be undertaken in any child with language delays

Autism Spectrum Disorder

Diagnosis
Chromosomal analysis should be performed if the child has evidence of mental retardation and dysmorphic features An electroencephalogram should be performed in children with ASDs who have symptoms of developmental regression or suspicion of seizures.

Autism Spectrum Disorder

Treatment
Behavioral Therapy
Intensive therappy beginning before 3 yr of age and targeted toward speech and language development, is successful in improving both language capacity and later social functioning The training method focuses on the acquisition of compliance behavior, imitation activities, language acquisition, and integration with peers. Treatment is most successful when geared toward the individual's particular behavior patterns and language function.

Autism Spectrum Disorder

Treatment
Working with the family of an autistic child is vital to the child's overall care. Educational programming should begin as early as possible, preferably by age 24 yr Older children and adolescents with relatively higher intelligence, but with poor social skills and psychiatric symptoms (depression, anxiety, obsessivecompulsive disorder) may require psychotherapy, behavioral or cognitive behavioral therapy, and pharmacotherapy

Autism Spectrum Disorder

Treatment
Pharmacotherapy
Open-label trials of atypical neuroleptics (risperidone, olanzapine) have shown effectiveness in treating target behaviors, and in some instances, have also improved social relatedness Clomipramine, a tricyclic antidepressant that inhibits serotonin reuptake, has demonstrated usefulness in reducing compulsions and stereotypies ( but lowers the seizure threshold, can cause agranulocytosis, and has cardiotoxic and behavior toxicity effects) The SSRI 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

Autism Spectrum Disorder

Prognosis
Some children, especially those with speech, may grow up to live self-sufficient, employed, albeit isolated, lives in the community. Because early, intensive therapy may improve language and social function, delayed diagnosis may lead to a poor outcome. There is no increased risk 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.

Asperger Disorder
Children with Asperger disorder have a qualitative impairment in the development of reciprocal social interaction, often showing repetitive behaviors and restricted, obsessional, idiosyncratic interests. They have deficits in nonverbal and pragmatic aspects of communication (facial expressions, gestures). They do not have the severe language impairments that characterize autism.

Asperger Disorder
Though somewhat socially aware, these children appear to others to be peculiar or eccentric. They are awkward and clumsy and have unusual postures and gait. To meet the diagnostic criteria for Asperger syndrome, a child must manifest impairments in social interactions and show restrictive, repetitive patterns of behavior, interests, or achievements with other people These disturbances must cause significant impairments in social or occupational functioning.

Asperger Disorder
Unlike children with autism, those diagnosed with Asperger syndrome have a history of normal language milestones, with single words used by age 2 yr and communicative phrases used by age 3 yr. There are often similar traits in family members. Prevalence is estimated to be approximately 11/10,000 children.

Asperger Disorder
Group social skill training is the hallmark of intervention, although children with Asperger disorder appear to be at high risk for other psychiatric disorders, particularly oppositional-defiant disorder and mood disorders. Cognitive-behavioral therapy has been useful in patients with associated anxiety, whereas risperidone may improve negative symptoms similar to those seen in schizophrenia.

Childhood Disintegrative Disorder

This disorder, also known as Heller dementia, is a rare condition of unknown cause. It is characterized by normal development up to 24 yr of age, followed by severe deterioration of mental and social functioning, with regression to a very impaired autistic state before age 10 yr. Language, social skills, and imagination are profoundly affected; bowel and bladder control may be lost; and motor stereotypies and seizures are often present. Although this condition may be the result of an underlying neurologic illness, none has been identified. The prognosis is always poor.

Rett Disorder
a neurodevelopmental disorder resulting from a genetic mutation of the MECP2 gene an X-linked dominant disorder affecting predominantly girls and few boys has a prevalence of 1/10,000 development is initially normal, but then rapidly regresses in the latter of the 1st year of life.

Rett Disorder
Children initially have normal prenatal and perinatal development, with normal head circumference and normal psychomotor development until 5 mo of age After this period of normal development, all of the following are observed:
deceleration of head growth at 548 mo, with development of microcephaly; l oss of previously acquired purposeful hand skills at 530 mo, with subsequent development of stereotyped hand movements (handwringing); loss of social engagement; poorly coordinated gait or trunk movements; severely impaired receptive and expressive language development, with severe psychomotor retardation.

Childhood Schizophrenia
Psychotic reactions in older children tend to more closely resemble the psychoses of adulthood, and the same diagnostic criteria apply

Childhood Schizophrenia
Clinical Manifestations
prominent symptoms include thought disorder, disorganized speech, delusions, and hallucinations delusions, and hallucinations, in addition to later onset, higher intelligence scores, and fewer perinatal complications, differentiate schizophrenia from autism may have paranoid delusions, aggressive behavior, hebephrenic silliness, social withdrawal, and alternating moods not apparently related to environmental stimuli.

Childhood Schizophrenia
Clinical Manifestations
The typical age of onset is late adolescence to early adulthood. Early-onset schizophrenia (before puberty or in early adolescence) is rare. Schizophrenic children show significant premorbid maladjustments, including social withdrawal, disruptive behaviors, developmental delays, and speech and language problems.

Childhood Schizophrenia
Clinical Manifestations
Auditory hallucinations are seen in 80% of schizophrenic children. Delusions and formal thought disorders usually do not present until midadolescence. Children with early-onset schizophrenia show preliminary evidence of progressive ventricular enlargement, a decrease in total cerebral volume, and a decline in intellectual functioning. (Poor prognosis)

Childhood Schizophrenia
Clinical Manifestations
Affective blunting and disturbed interpersonal relationships predict psychotic adult psychopathology In schizophrenic children, initial presenting symptoms cluster around violent aggression and school problems. Psychotic symptoms are 1st recognized at 211 yr, followed 2 yr later by a diagnosis of schizophrenia.

Childhood Schizophrenia
Clinical Manifestations
Before diagnosis, children with schizophrenia often have a prodromal period characterized by deficits in attention, impaired language and verbal memory, poor gross motor skills, and impaired coordination. Most children receive a psychiatric diagnosis before the development of psychosis, with the most common diagnoses being pervasive developmental disorder, attention-deficit/hyperactivity disorder, and depression.

Childhood Schizophrenia
Clinical Manifestations
In the premorbid period before the diagnosis of schizophrenia, affected children showed higher rates of social withdrawal and greater global impairment, and had fewer friends. Individuals with various psychotic processes are often misdiagnosed as having schizophrenia.

Childhood Schizophrenia
Treatment
Multimodal therapeutic approach Parent training is necessary Individual therapy designed to build a positive alliance Neuroleptic therapy hallucinations and psychotic delusions, these medications appear to have lower risks of extrapyramidal symptoms and tardive dyskinesia Clozapine appears to be the most effective antipsychotic medication for refractory cases, but the risk of agranulocytosis and seizures limits its use

Acute Phobic Hallucinations

Hallucinations often signify a serious disorder that requires immediate attention, especially with :
Altered levels of consciousness Delusions Confusion Any abnormalities on mental status examination

Acute phobic hallucinations are benign and common and occur in previously healthy preschool children

Acute Phobic Hallucinations

Hallucinations are often visual or tactile, last 1060 min, and occur at any time, but most often at night The differential diagnosis includes drug overdose or poisoning, high fever, encephalitis, and psychosis Symptoms may persist for 13 days, slowly abating over 12 wk. Treatment with benzodiazepines may be beneficial.