$Unique_ID{BRK03508} $Pretitle{} $Title{Autism} $Subject{Infantile Autism Kanner Syndrome Asperger's Syndrome Childhood Schizophrenia Deafness Aphasia Epilepsy Pervasive Developmental Disorder Phenylketonuria (PKU) Congenital Rubella Rett Syndrome} $Volume{} $Log{} Copyright (C) 1984, 1985, 1986, 1987, 1988, 1989, 1990, 1991, 1992 National Organization for Rare Disorders, Inc. 5: Autism ** IMPORTANT ** It is possible the main title of the article (Autism) is not the name you expected. Please check the SYNONYMS listing on the next page to find alternate names and disorder subdivisions covered by this article. Synonyms Infantile Autism Kanner Syndrome Information on the following diseases can be found in the Related Disorders section of this report: Asperger's Syndrome Childhood Schizophrenia Deafness Aphasia Epilepsy Pervasive Developmental Disorder Phenylketonuria (PKU) Congenital Rubella Rett Syndrome General Discussion ** REMINDER ** The Information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Autism is a lifelong, nonprogressive neurologic disorder typically appearing before the age of thirty months. It is characterized by language and communication deficits, withdrawal from social contacts and extreme reactions to changes in the immediate environment. About seventy-five percent of autistic children have low scores on standardized intelligence tests. The outlook for independent living may be improved with intensive training. The life span is normal. Symptoms People with Autism generally show some symptoms before the age of 3. Among the earliest symptoms are the lack of response to other people and a marked preference for passive, solitary activity. The child does not watch others and avoids any physical contact. Toddlers seem to form stronger attachments to objects than to people. Slight rearrangement of the objects in the physical surroundings, such as furniture, may produce a violent or extreme reaction. Autistic children's response to sounds (aural sensations) and sight (visual stimuli) is unpredictable, ranging from seeming indifference to intense emotion. Hyperactivity is common and may lead to sleeping and eating disorders. Temper tantrums may occur if the child feels confused or is prevented from the pursuit of some activity. Autistic children may spend hours rocking rhythmically. They may also be engaged in some other solitary repetitive activity for long periods of time; the child appears self- absorbed. The control of movement (motor development) is frequently delayed. Generally there is a delay in the development of language and communication skills of autistic children. When speech does develop it is often characterized by the repetition of another person's words or phrases (echophrasia) and lack of grammar. Voluntary statements are often inappropriate in pitch, rhythm, or inflection. Some children may learn to speak, then stop speaking for years. Although hearing is intact, autistic children often appear deaf. Deficits in information processing in the brain (at the level of synthesis and abstraction) may account for the difficulties in acquiring speech and using language. Rapid emotional changes and a preference for solitude remain prominent as the autistic child grows up. Play has a strong ritualistic, repetitive component. Unusual mannerisms develop, and bodily posture or limb movements may be twisted or bent (contorted). Oral expression may pass into a stage of tooth grinding and muttering in place of speech. Reading and writing are learned with great difficulty. A few autistic children exhibit unusual and extraordinary ability in aspects of music, mathematics, or rote memory. The electrical currents in the brain that are measured in a test known as an electroencephalography (EEG), show abnormalities in some autistic patients. Behavior may improve around school age. Nevertheless, only a small proportion of autistic people can learn to live independently, even with intensive social and educational training. Most remain dependent and in need of sheltered homes for life. Causes Earlier theories proposing that autism is a result of mental or psychiatric factors (psychogenic) have been replaced by the theory that the condition is an organic brain disorder. Several of the defects in autism can be traced to the central nervous system's lack of ability to process and respond to informational input, particularly hearing (auditory) and seeing (visual) stimuli. This could account for the impaired thinking, including diminished interpretive and conceptualizing skills, exhibited by the autistic person. A genetic cause for some types of autism has been proposed, in part because of the higher incidence of the disorder in siblings. It has been suggested that autism may be inherited through autosomal recessive genes in some people. Human traits including the classic genetic diseases, are the product of the interaction of two genes for that condition, one received from the father and one from the mother. In recessive disorders, the condition does not appear unless a person inherits the same defective gene from each parent. If one receives one normal gene and one gene for the disease, the person will be a carrier for the disease, but usually will show no symptoms. The risk of transmitting the disease to the children of a couple, both of whom are carriers for a recessive disorder, is twenty-five percent. Fifty percent of their children will be carriers, but healthy as described above. Twenty-five percent of their children will receive both normal genes, one from each parent and will be genetically normal. A genetic component is also suggested by the greater number of boys than girls with autism. The role of metabolic, infectious, genetic and environmental influences prior to and shortly after birth (pre- and perinatally) is under investigation. Defective tryptophan (an essential amino acid) has been proposed as a possible metabolic factor. More research is needed to confirm a genetic origin and to further explain the contribution of prenatal events to the development of autism. Affected Population Autism is fully expressed in about 5:10,000 children. Approximately 15:10,000 children have 2 or more of the cardinal features of autism. Boys are affected 4 times more frequently than girls. Related Disorders Symptoms of the following disorders may be similar to those of Autism. Comparisons may be useful for a differential diagnosis. Asperger's Syndrome is a neuropsychiatric disorder. The major symptom of this disorder is the patient's inability to understand how to interact socially, but a special interest and ability in reading. Other features include poor motor skills and social withdrawal. The symptoms of Asperger's Syndrome are not usually recognized until after the age of 30 months. The child displays little interest or pleasure in other people but loves to read. Imaginative play may be absent or repetitious. (For more information on this disorder choose "Asperger" as your search term on the Rare Disease Database). Childhood Schizophrenia is a severe mental disorder whose symptoms include thought disorder, delusions and hallucinations. Later onset, fewer newborn complications and higher IQ scores differentiate this disorder from autism. Schizophrenic children often appear to be confused and disoriented. They may be aggressive or withdraw completely. Deafness in an infant needs to be investigated and tested. An infant who shows evidence of not responding to auditory stimuli should be evaluated to determine the cause. The autistic syndrome should be differentiated from deafness. Aphasia results when trauma to the brain occurs in the area that controls language. Comprehension and oral expression are adversely affected. The highest incidence of aphasia is in individuals who have had a stroke or head trauma. In children it may be congenital. Patients may not comprehend ideas and information received verbally. Epilepsy is a disorder of the central nervous system. It is characterized by recurrent electrical disturbances in the brain. Symptoms of this disorder include loss of consciousness, convulsions, spasms, sensory confusion and disturbances in the autonomic nervous system. Attacks are frequently preceded by a feeling of uneasiness, discomfort or strange behaviors. If the electrical disturbances or symptoms respond to medication, the patient can expect an otherwise normal life. Some types of epilepsy are characterized by absent staring and an apparent disinterest in the surrounding environment, which can happen repeatedly throughout the day. (For more information on this disorder choose "Epilepsy" as your search term in the Rare Disease Database). Mental retardation, which has a wide variety of causes, is characterized by impairment in the development of social skills, verbal and nonverbal communication skills, and imaginative activity. Activities and interests are restricted, stereotyped, and repetitive. Some mentally retarded people may have autistic behaviors and many autistic people have mental retardation. Phenylketonuria (PKU) is a metabolic disorder caused by a deficiency of an enzyme in the body called phenylalanine hydroxylase. The interrupted metabolism of dietary phenylalanine results in the accumulation of phenylalanine in the bodily fluids. Untreated this can result in progressive and severe, irreversible mental retardation. Infants are normal at birth. Some newborns may lack energy and feed poorly. Other symptoms can include vomiting, irritability, skin rashes, and a musty or foul body odor. It is not understood why high levels of phenylalanine cause severe mental retardation. Some children with PKU may have autistic behaviors. (For more information on this disorder choose "Phenylketonuria" as your search term in the Rare Disease Database). Congenital Rubella may result when the virus for German measles is transmitted across the placenta from mother to fetus. Congenital rubella is associated with a wide variety of birth defects. Some of the permanent symptoms can include deafness, mental retardation with autistic behaviors, and malformations of the heart. The diagnosis of rubella is confirmed through blood testing for the presence of IgM antibodies to rubella. (For more information on this disorder choose "Rubella, Congenital" as your search term in the Rare Disorder Database). Rett Syndrome is a disease that affects females with progressive degenerative changes to the brain. It is behaviorally similar to autism and characterized by developmental regression or lose of previously acquired skills. The symptoms of Rett Syndrome usually develop after the first 7 to 18 months of the female infant's life. Deterioration occurs during subsequent years leading to mental and physical retardation, and severe dementia. Initially girls with Rett syndrome may appear autistic and they display a repetitive "hand washing" type of movement that had no apparent meaning. Rett syndrome is an X-linked dominant genetic disorder. (For more information on this disorder choose "Rett" as your search term on the Rare Disease Database). Therapies: Standard The treatment for Autism is primarily educational. Intensive, highly structured, skill oriented training on a continual basis is most useful for the person with autism. Training and support for and from the parents can benefit families considerably. The earlier these programs are instituted, and the more they provide daily and round the clock structured care, the better the chances of adjustment are. Institutionalization, however, is not recommended. Hyperactivity and emotional instability may be treated with such major tranquilizers as trifluoperazine or haloperidol. Therapies: Investigational Investigational studies are now underway on the use of the drug fenfluramine for autistic people. Controlled studies are being conducted by Edward Ritvo, MD; University of California, Los Angeles, California. Additional studies are being conducted by Donald Cohen, MD, Director, Yale Child Study Center, 333 Cedar Street, New Haven, Connecticut 06510. Researchers are studying the role of opioids in the brains of people with Autism, and some have theorized that autistic people may have unusually high levels of opioids in their brains. Opioids are natural brain chemicals that reduce pain. Opium and heroin are drugs that mimic natural opioids. Naltrexone is a drug manufactured for treatment of drug abuse. It is being studied as a treatment for Autism on the theory that it may block brain cell receptors for opioids thereby reducing the overabundance of the neurochemicals in autistic people. More research is needed to determine if Naltrexone may be a safe and effective treatment for Autism. This disease entry is based upon medical information available through August 1992. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Autism, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 Autism Society of America 8601 Georgia Ave., Suite 503 Silver Spring, MD 20910 (301) 565-0433 National Mental Health Association 1021 Prince St. Alexandria, VA 22314 (703) 684-7722 National Alliance for the Mentally Ill 1901 N. Fort Meyer Dr., Suite 500 Arlington, VA 22209 (703) 524-7600 National Mental Health Consumer Self-Help Clearinghouse 311 S. Juniper St., Rm. 902 Philadelphia, PA 19107 (215) 735-2481 NIH/National Institute of Neurological Disorders & Stroke (NINDS) 9000 Rockville Pike Bethesda, MD 20892 (301) 496-5751 (800) 352-9424 NIH/National Institute of Mental Health (NIMH) 9000 Rockville Pike Bethesda, MD 20205 (301) 443-4515 or (301) 496-1752 (800) 421-4211 (24 hrs.) For information on genetics and genetic counseling referrals please contact: March of Dimes Birth Defects Foundation 1275 Mamaroneck Avenue White Plains, NY 10605 (914) 428-7100 Alliance of Genetic Support Groups 35 Wisconsin Circle, Suite 440 Chevy Chase, MD 20815 (800) 336-GENE (301) 652-5553 References THE MERCK MANUAL 15th ed. R. Berkow, et al: eds; Merck, Sharp & Dohme Research Laboratories, 1987. P. 2114. MENDELIAN INHERITANCE IN MAN, 8th ed.: Victor A. McKusick; Johns Hopkins University Press, 1986. Pp. 213-4, 834, 1058-9. NELSON TEXTBOOK OF PEDIATRICS 14th ed. Richard E. Behrman, M.D.: W.B. Saunders Company, 1992. P. 72.