AUTISM

Pervasive developmental disorders, also known as autism spectrum disorders (ASDs) consist of five disorders: autism, Asperger’s disorder, childhood disintegrative disorder, Rett disorder, and pervasive developmental disorder not otherwise specified. These disorders are marked by their onset in infancy and preschool years. Hallmarks of these disorders include impaired communication and impaired social interaction as well as stereotypic behaviors, interests, and activities. Mental retardation is common. Some children with ASDs show remarkable isolated abilities (savant or splinter skills). ASDs are seen in less than 1% of the population, although the number diagnosed has increased rapidly in the last decade. The prevalence is greater in boys (except for Rett disorder), but girls with the disorders tend to be more severely affected. ASDs are present in equal prevalence among all racial and ethnic groups.

Autism is characterized by lifelong marked impairment in reciprocal social interaction, communication, and a restricted range of activities and interests (Table 20-1). Clinical manifestations of the disorder should be present by 3 years of age. Otherwise, Rett disorder or childhood disintegrative disorder should be considered. Approximately 20% of parents report relatively normal development until 1 or 2 years of age, followed by a steady or sudden decline. As an infant, there is delayed or absent social smiling. The young child may spend hours in solitary play and be socially withdrawn with indifference to attempts at communication. Patients with autism often are not able to understand nonverbal communication (eye contact) and do not interact with people as significantly different from objects. Intense absorbing interests, ritualistic behavior, and compulsive routines are characteristic, and their disruption invokes tantrum or rage reactions. Head banging, teeth grinding, rocking, diminished responsiveness to pain and external stimuli, and self-mutilation may be noted. Speech often is delayed and, when present, it is frequently dominated by echolalia (can be mistaken as a sign of obsessive-compulsive disorder [OCD]), perseveration (confused with psychosis or OCD), pronoun reversal, nonsense rhyming, and other abnormalities.

Although the etiology of autistic disorder is unknown, there is an increased risk of autistic disorder in siblings compared with the general population. The prevalence rate is approximately 10 cases per 10,000. Males are affected four to five times more frequently than females. Affected females often have severe mental retardation.

Common comorbidities are mental retardation (in up to 80%), seizure disorder (in 25% and usually beginning in adolescence), anxiety disorders, OCD, and attention-deficit/hyperactivity disorder. Higher IQ and better language skills are related to improved prognosis. Good communication predicts the likelihood of living in less structured group living situations or even independently.

There are no definitive laboratory studies for autistic disorder, but they can help in identifying medical causes that may mimic autism. Hearing should be tested to determine if a deficit may account for the language problems. Chromosomal abnormalities (fragile X syndrome), genetic polymorphisms, congenital viral infections, metabolic disorders (phenylketonuria), and structural brain abnormalities (tuberous sclerosis) should be evaluated as possible etiologic causes of the autistic symptoms. Expressive and mixed receptive and expressive language disorders should be considered. Speech pathology consultation can be helpful in evaluating the communication difficulties. Nonspecific electroencephalographic abnormalities are common even without seizures.

The American Academy of Pediatrics recommends screening for autism at 18 and 24 months of age. Comprehensive testing should be done if there is an affected sibling or parental, other caregiver, or pediatrician concern.

Other pervasive developmental disorders can also be confused with autism:

Asperger’s disorder (2.5 per 10,000 and 5:1 male-to-female ratio) can be distinguished from autistic disorder by a preservation of language development. Childhood disintegrative disorder (0.11 per 10,000) has a distinctive pattern of severe developmental regression. This regression occurs after developmental milestones are achieved relatively normally in the first 2 years of life. A rapid deterioration in multiple functional areas is the hallmark of the disorder.

Rett disorder (0.44 to 2.1 per 10,000) has been diagnosed only in girls and is associated with mutations in the MECP2 gene. The characteristic pattern of developmental regression occurs after relatively normal development in the first few months of life. Head circumference growth dramatically decelerates. A characteristic handwringing stereotypical movement exists. Motor coordination problems are prominent.

Pervasive developmental disorder not otherwise specified (2 to 16 per 10,000) is a diagnosis made when significant impairment exists in the developmental trajectory but the patient does not meet full criteria for one of the aforementioned disorders.

Many types of medications are used to treat symptoms commonly found in patients with ASD. Antipsychotics (risperidone, olanzapine, quetiapine, aripiprazole, ziprasidone, paliperidone, haloperidol, thioridazine) are used for aggression, agitation, irritability, hyperactivity, and self-injurious behavior. Anticonvulsants and lithium can be used for aggression. Naltrexone has been used to decrease self-injurious behavior. Selective serotonin reuptake inhibitors are given for anxiety, perseveration, compulsions, depression, and social isolation. Stimulants are useful for hyperactivity and inattention (better response with Asperger’s disorder). Alpha-2 agonists (guanfacine, clonidine) are used for hyperactivity, aggression, and sleep dysregulation, although melatonin is first-line medication for the common sleep dysregulation. Parent behavioral management training is useful to teach the parents protocols to help their child learn appropriate behavior. Special educational services need to be individualized for the child. Occupational, speech, and physical therapy are required. Also important is the referral for disability services and support. Potentially useful therapies tailored to the individual include applied behavioral analysis, discrete trial training, and structured teaching. There is need for family support groups and individual supportive counseling for parents. The prognosis for autism is guarded. There are no known methods of primary prevention. Treatment and educational interventions are aimed at decreasing morbidity and maximizing function.

SCHIZOPHRENIA

Schizophrenia generally presents in adolescence or early adulthood; the onset resembles that in adults. To diagnose schizophrenia in children, the same diagnostic criteria are applied as in adults but must be interpreted in terms of the developmental stage of the child because symptoms at an early age are less specific and overlap with a number of developmental disorders (Table 20-2).

Childhood-onset schizophrenia is a rare disorder (<1 in 10,000 children). The frequency increases between 13 and 18 years of age. Boys tend to be affected about twice as often as girls, regardless of ethnic or other cultural factors. The etiology of schizophrenia is unknown. Numerous studies have shown genetic predisposition and linkages for the disorder. In addition, family studies consistently have shown a higher risk in monozygotic twins compared with dizygotic twins and siblings. First-degree relatives of patients with schizophrenia have a 10-fold higher risk.

Schizophrenia is characterized by hallucinations; delusions; disorganization; loosening of associations; inappropriate affect; ambivalent emotional state; and marked withdrawal from family, school, and peers. The symptoms of schizophrenia typically fall into four broad categories:

There are five subtypes of schizophrenia: paranoid, disorganized, catatonic, undifferentiated, and residual.

To meet criteria for diagnosing schizophrenia, clinical symptoms should be present for at least 6 months. If symptoms are present for less than 1 month, the condition is called a brief psychotic disorder. If symptoms are present for more than 1 month but less than 6 months, a diagnosis of schizophreniform disorder is made. Psychotic symptoms that do not meet full diagnostic criteria for schizophrenia but are clinically significant are diagnosed as psychotic disorder not otherwise specified. There are several disorders that have to be distinguished from schizophrenia.

Schizoaffective disorder is diagnosed when a person has clear symptoms of schizophrenia for at least 2 weeks without active symptoms of depression or mania. These affective syndromes occur at other times, even when psychotic symptoms are present.

Major depression with psychotic features and bipolar disorder with psychotic features are diagnoses made when psychotic symptoms occur only during the course of depression or mania. Psychotic disorder due to a general medical condition describes psychotic symptoms that are judged to be the direct result of a general medical condition.

Substance-induced psychotic disorders have psychotic symptoms that are related to drug or alcohol ingestion.

Shared psychotic disorder, folie à deux, occurs when delusional symptoms from one person influence delusions, with similar content, in another person.

Other disorders in the differential diagnoses are autism, childhood disintegrative disorder (Heller’s syndrome), Asperger’s disorder, drug-induced psychosis, and organic brain disorders. No diagnostic tests or imaging studies are specific for schizophrenia. It is a diagnosis of exclusion. Structural brain imaging studies typically reveal large cerebral ventricles and an increased ventricle-to-brain ratio (less cortex, more cerebrospinal fluid). Numerous neurochemical and neuropsychological abnormalities are reported in patients with schizophrenia. None of these studies are clinically useful. Magnetic resonance imaging of the brain should be performed for new-onset psychosis to evaluate for intracranial lesions that could mimic schizophrenia. Temporal lobe epilepsy is a condition that mimics symptoms of schizophrenia but is etiologically related to a seizure disorder. Special electroencephalogram lead placement may be necessary to diagnose this condition.

Treatment is based on a multimodal approach including antipsychotic medications. First-line drugs are atypical antipsychotics (risperidone, olanzapine, quetiapine, aripiprazole, ziprasidone, paliperidone). Second-line medications are typical antipsychotics (haloperidol, thiothixene, chlorpromazine, trifluoperazine, loxapine, and molindone). These medications can be augmented with lithium or another mood stabilizer. Clozapine or electroconvulsive therapy is generally reserved for resistant cases.

Psychosocial treatments, including skills training, supportive psychotherapy, behavior modification, and cognitive-behavioral therapy are all appropriate and should be considered as needed for individual patients. Attention should be paid to psychoeducation for parents and the child about the disease and the treatment. School interventions are done to ensure that any special learning needs are addressed.

The course of illness for schizophrenia varies. Rarely, a patient may respond well initially and have no additional psychotic episodes. Others respond but have intermittent episodes throughout their lives. Still others have a chronic deteriorating course. The poorest prognosis is seen if the onset is at an age younger than 14 years, with poor premorbid function, when negative symptoms are present, and a family history of schizophrenia exists.