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Short Explanation about Autism for Parents

Isabelle Rapin MD

Definition

Autism or the autism spectrum disorders (Pervasive Developmental Disorders or PDD) refers to a group of developmental disorders of the brain that affect:

Autism is a behaviorally-defined disorder of brain development, not an emotional problem. It has a broad range of severity, from extremely severe to mild. Intelligence is not a defining feature and cannot be gauged reliably in young children. It can vary from severe mental retardation to superior intelligence, in the latter case usually with quite uneven skills. An exceptional skill for memory, music, reading, drawing, or calendar calculating does not mean that the child is a genius or even normally intelligent, unless there is other evidence of normal intelligence. Not all children avoid looking at you, some are affectionate but usually on their terms.

Testing to determine its causes

Autism has different causes in different children, but in the majority of cases (80-90% of children) a cause cannot be defined by examination or by many medical tests. Because autism is a behavioral diagnosis and not a specific disease in the medical sense of the word, it can occur in the context of many conditions such as chromosome abnormalities, particular genetic conditions such as tuberous sclerosis, infections such as congenital rubella, brain anomalies, and occasionally in deaf or blind children. Virtually all of these conditions have other manifestations besides autism, so that it is very important that the child be evaluated by a physician who is knowledgeable about autism so that tests that the physician recommends can be carried out. Massive testing with MRI, metabolic blood and urine tests are not indicated, expensive, and stressful for the child and the family unless driven by medical findings, as they most often do not change the diagnosis or treatment. In children who have a history of language and behavioral regression and in those with no speech at all or speech that is very difficult to understand, prolonged EEG (brain wave) testing during overnight sleep may be indicated as it might lead to a specific medical treatment. Epilepsy occurs by adulthood in 1/3 of individuals with autism, notably in the more severely affected individuals. Hearing always needs to be tested early and definitively in all children who do not talk or talk poorly, but is not needed in children who speak clearly. Neuropsychologic and language testing cannot predict intelligence or outcome in young children but are very useful for planning remediation.

Genetics

Genetics plays a major role in autism because there are many more autistic boys than girls. Also over 90% of monozygotic (identical) twins are both affected--although not always to the same degree, whereas less than 10% of dizygotic (fraternal) twins are both affected. When a couple has one child on the autistic spectrum, the risk of this couple having another affected child (not necessarily with the same severity) is less than 10%, but that is much higher than the risk in the general population, which is about 1/1000 children for classic autism, about 1/200-300 children also counting mildly affected children with so-called Asperger syndrome or PDD-NOS (PDD-not otherwise specified), which are milder forms of autism. One needs to not forget that risk deals only with large groups, that each pregnancy is a new event which has only 2 possible outcomes: yes-autistic, no-not autistic, and that prenatal diagnosis is not possible unless one of the exceptionally rare genetic causes of autism has been diagnosed. It may be that one needs more than one gene to have full blown autism, or that what is inherited is unusual susceptibility to some otherwise well tolerated minor illness or emotional stress, although this possibility is not proven. There is no evidence that immunizations cause autism, and very little evidence that illnesses during pregnancy or a difficult birth are responsible for autism. 

Treatment

There is no medication, no miracle diet, vitamin, or other medical or unusual treatment that will cure autism. Some medications can help some behavioral problems, although many children do not need them. In the absence of subclinical epilepsy, anticonvulsant medication is not indicated, and that there is no medication to cure autism. Some children may benefit from such psychotropic drugs as serotonin uptake inhibitors like Prozac, or other drugs like clonidine or clomipramine. Drugs with potentially irreversible side-effects like the phenothiazines, haloperidol, and risperidone, although efficacious in some children, should be avoided unless there is a specific behavior that one wants to modify, and they should be used in the smallest effective dose for as short a time as reasonable. The use of multiple drugs simultaneously is generally not considered ideal.

The most efficacious treatment is intensive, early special education of the child and training of the parents in appropriate ways to handle such a difficult child. Behavioral and language needs both need remediation, which should be started as early as possible and be intensive for optimal results. One cannot predict outcome at preschool so that all children require this intervention, which may take different forms depending on the individual child's needs. Less severe symptoms, higher intelligence, and prompt response to intervention are encouraging signs but do not guarantee a completely independent life as an adult.

Most efficacious intervention

The educational intervention needs to be intensive, with a lot of one-on-one teaching, The child should not be allowed to wander around doing nothing for prolonged periods of time and needs to be engaged as much as possible in activities that require him to interact with an adult and focus on a joint task, as this is a most prominent deficit in autism. The activities should for the most part be pleasureful and progress toward the goal, for example, of pointing to a picture, and be rewarded by using something the child clearly likes (small bits of food, hugs, watching a few moments of a favorite videotape, swinging, etc). Using a hand-over-hand approach to help the child make progress toward the desired activity (for example putting a piece in a puzzle or piling Lego blocks) is often needed, and rewarding even such feeble progress as allowing the adult to hold the child's hand so that a goal can be achieved is helpful. Obviously one should not persist for prolonged periods at a particular activity but introduce new ones, as young children have short attention spans, and they need short breaks between activities during which demands are not made. Tears and temper tantrums when the child is asked to engage in such activities should be ignored until the child calms down, then the activity should be resumed. Capitulating to tears and changing activities or not insisting on the activity introduced, comforting the child while he cries under such circumstances will only reinforce a behavior one is trying to suppress. In other words, calm firmness and not letting the child be the boss of the adult is the goal. Children with autism respond best to predictable and consistent rules and to routines, so that parents need to strive toward a well organized day and activities. Children with autism are not emotionally disturbed or emotionally fragile, and will not be harmed by firm, consistent discipline.

Regarding language, nonverbal children especially need visual referents to help the comprehension of oral language. Speaking about what is happening as it is happening, pointing to what one wants the child to attend to is important. Using pictures, gestures, manual signs, or later even printed labels together with speech is often useful and will not delay the emergence of speech. In a completely bilingual family using only one language is probably unrealistic, unless there is evidence that the child clearly has much superior skills in one of the languages or the family uses one much more than the other. I would strongly discourage introducing a third language, for example English by moving to another country, even if there are better educational programs in that country.

October 6, 1999

Isabelle Rapin is a Professor of Neurology at Albert Einstein College of Medicine