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Query: UMLS:C0004352 (autism)
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A combined informant questionnaire and interview survey of self-injurious behavior (SIB) at a large state facility for the retarded was conducted independently three times over a 3-year period. Prevalence consistently was about 10% of the population. SIB cases tended to be younger and institutionalized longer than the rest of the population. Severe cases had a longer history of chronic SIB. SIB cases had more seizure disorders, severe language handicaps, visual impairments, and severe or profound retardation than the rest of the population. They appeared to fulfill most of the Rutter (1966) criteria for autism. But unlike the severely autistic, there was little relation of sex to incidence of SIB. Over 90% of SIB cases changed status over 3 years, suggesting that SIB was amenable to behavior modification in most cases (94%). Psychotropic behavior control medications helped in some intervention programs (32%). SIB remitted spontaneously in 21% of SIB cases where there had been no behavioral or drug intervention.
J Autism Child Schizophr 1978 Sep
PMID:Prevalence of self-injurious behaviors in a large state facility for the retarded: a three-year follow-up study. 2 30

Fifty infants and young preschool children seen in a pediatric developmental service and diagnosed as having "autism" all had evidence of organic disease of the brain and three fourths had mental deficiency of varying degrees. They did not differ in any respect from a comparison group of patients with central nervous system dysfunction unassociated with the symptom complex of autism. Both groups of patients had a high incidence of low birthweight, complications of pregnancy and the neonatal period, seizure disorders, and a variety of specific disease entities associated with developmental defects. Follow-up of 40 of the 45 survivors for a mean of five years showed that none of the patients had had treatment directed to their psychotic symptoms. However, three fourths had established social responses appropriate to their level of function; those who did not generally were over 3 years of age at the time of their first examination or had initial DQs of 35 or less. The degree of mental deficiency was as great or greater at follow-up than it was initially.
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PMID:Some etiologic and prognostic factors in early infantile autism and psychosis. 4 57

Epilepsy represents a serious medical and social problem. In the majority of cases, seizures are successfully managed by a variety of anticonvulsant medications, even though these drugs may potentiate significant physical and developmental side effects. A small group of studies to date have offered evidence that behavioral procedures can successfully manage some seizure disorders and are particularly desirable treatment choices when seizure disorders are intractable to drug management or when drug side effects are to be avoided. The present case adds to this small but growing group of studies in that it demonstrates the use of behavioral procedures in the analysis and treatment of high-rate myoclonic seizures. Seizures were evaluated on a hospital ward and in a controlled experimental setting. The data indicated a variable rate of seizures across days and activities and a reduction of seizure frequency in the controlled setting when time-out was made contingent on seizures. A program of contingent rest' was then applied on the hospital ward that demonstrated a reduction in myoclonic seizure frequency and the apparent prevention of several grand mal episodes. An observer calibration procedure showed high correspondence between behaviorally and physiologically recorded seizures. A discussion of issues in behavioral medicine research follows.
J Autism Dev Disord 1979 Dec
PMID:A behavior analysis approach to high-rate myoclonic seizures. 11 52

A total of 600 handicapped patients had dental rehabilitation under general anesthesia during an eight-year period. Handicaps included mental retardation, cerebral palsy, Down syndrome, seizure disorders, autism, cystic fibrosis, osteogenesis imperfecta, and muscular dystrophy. No significant complications developed in the majority of patients. This is attributed to thorough preoperative evaluation, appropriate anesthetic management, and vigilant postoperative observation.
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PMID:Complications related to the administration of general anesthesia in 600 developmentally disabled dental patients. 15 47

Two case reports illustrate the therapeutic response of congenital nystagmus to a diet eliminating synthetic food colors, synthetic food flavors, the antioxidant preservatives butylated hydroxytoluene (BHT) and butylated hydroxyanisole (BHA), and a small group of foods thought to contain a natural salicylate radical. A brief discussion of the hyperkinetic syndrome is offered with the proposal that a variety of neurologic and neuromuscular disturbances (grand mal, petit mal, psychomotor seizures; La Tourette syndrome; autism; retardation; the behevioral component of Down's syndrome; and oculomotor disturbances) may be induced by identical chemicals, depending upon the individual's genetic profile and the interaction with other environmental factors. It is perhaps the failure to integrate all the signs presented by the various clinical patterns with hyperkinesis or Minimal Brain Dysfunction (MBD) under a single heading that eye muscle involvement manifested as either nystagmus or strabismus has not been emphasized as part of the hyperkinetic syndrome.
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PMID:Dietary management of nystagmus. 46 22

The authors examined 183 children with autistic symptoms and found that the age-specific incidence rates of seizures in this sample were between 3 and 28 times the rates for children in the general population. The subjects classified as totally autistic were at high risk of developing seizure from early childhood well into adolescence, but especially so at puberty. The partially autistic children had an increased risk of seizures only up to age 10. The authors suggest that the high incidence of seizures at puberty observed in this study may be specific to children with total autistic symptomatology and may represent a distinct pathological process associated with autism.
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PMID:The incidence of seizures among children with autistic symptoms. 48 27

The problem of differential diagnosis of childhood schizophrenia versus gross brain pathology is a difficult one. The clinical picture, for instance, of dementia infantalis (Heller's Disease) is indistinguishable from that of schizophrenia (Shaw & Lucas, 1970). The same is true of some major metabolic disorders (Bray,1970). Coexisting neurological and EEG findings for seizures are not helpful since these are often seen in schizophrenia (Bender, 1947; Fish, 1977). Mental retardation may coexist with schizophrenia or any of the other disorders. The following is an unusual case illustration of a child presenting symptoms of schizophrenia, seizures, and retardation without neurological abnormalities. Until his gross anatomical brain pathology was found by neurologic evaluation, he was subjected to the inappropriate treatment of psychotherapy.
J Autism Dev Disord 1979 Mar
PMID:Davidoff-Dyke-Masson syndrome presenting as childhood schizophrenia. 57 29

A pair of monozygotic twins were born 3 weeks prematurely. They were concordant for early infantile autism (EIA) and developed at a similar rate until the age of 4 years, when one of them spontaneously improved. The other twin, who has suffered infrequent epileptic seizures since the age of 6 days, is still grossly autistic. The results of neurological examination and the electro-encephalograms of both are within normal limits. The role of genetic factors in the aetiology of autism is stressed, although these factors were not all important in the further development of these twins.
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PMID:Monozygotic twins with early infantile autism. A case report. 57 95

This case study describes in detail two autistic siblings who were mentioned in Rimland's analysis of checklists for psychotic children, as the only pair of classically early infantile autistic siblings (Rimland, 1971). One of the children, a nonverbal girl, now 13 years old, who developed epileptic seizures at age 41/2, shows all symptoms of early infantile autism even today. Her brother, now 24 years old, however, does not fit any of the known psychopathological patterns of childhood. The boy showed all symptoms of early infantile autism, but also some of the main characteristics of childhood schizophrenia and austic psychopathy. It is suggested that we are dealing perhaps with an unusual mixed type falling within a broad category of genetically determined types of autistic disorders.
J Autism Child Schizophr 1976 Mar
PMID:A pair of classically early infantile autistic siblings. 94

Autism is a behavior disorder with genetic influences indicated from twin and family studies and from the co-occurrence of autism with known genetic disorders. Tuberous sclerosis complex (TSC) is a known genetic disorder with behavioral manifestations including autism. A literature review of these two disorders substantiates a significant association of autism and TSC with 17-58% of TSC subjects manifesting autism and 0.4-3% of autistic subjects having TSC. In initial data collected on 13 TSC probands and 14 autistic probands in our family study of autism and TSC, we identified 7 TSC subjects with autism. The seven TSC autistic probands are similar to non-TSC autistic probands on the Social and Communication domains of the Autism Diagnostic Inventory (ADI) (Le Couteur et al., 1989), but show fewer Repetitive Rituals. There are more male TSC probands with autism than female, despite an equal sex ratio among TSC probands. The TSC probands with autism have significantly more seizures and mental retardation than those without autism; however, the extent and etiology of associations require further study. Our preliminary findings suggest that a fruitful approach for delineating genetic influences in autism may come from further investigation of possible mechanisms underlying the association of autism and TSC.
J Autism Dev Disord 1992 Sep
PMID:Autism and tuberous sclerosis. 140 Jan 3


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