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Autism is a neurobiological disorder characterized by delays in social skills and communication and unusual behavioral responses (American Psychiatric

Association, 1995). Autisme adalah kelainan neurologis dengan karakter adanya keterlambatn dalam kemampuan bersosial dan berkomunikasi serta respon perilaku yang tidak biasa/wajar (Asosiasi Pskiatri Amerika,1995.

Autisme adalah suatu kondisi mengenai seseorang sejak lahir ataupun saat masa balita, yang membuat dirinya tidak dapat membentuk hubungan sosial atau komunikasi yang normal. Akibatnya anak tersebut terisolasi dari manusia lain dan masuk dalam dunia repetitive, aktivitas dan minat yang obsesif. (BaronCohen, 1993)

Autism
Autism is a condition where there is an inability to relate to others, and language development is very delayed. It often occurs in conjunction with learning disabilities. Characteristically the autistic child fails to develop social relationships, has little non-verbal communication and often has ritualistic behaviour patterns. Special education is often required and the family need good support as it is extremely stressful to have an autistic child in the family.

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 (3-4:1). 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 2-4. page 93 page 94 Older children and adolescents with relatively higher intelligence but with poor social skills and psychiatric symptoms (e.g., depression, anxiety, obsessive-compulsive 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 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, Ndimethylglycine 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 selfinjurious 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.

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