Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0004352 (autism)
 32,579 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The two children of an epileptic woman who underwent therapy with hydantoin during both pregnancies showed the characteristic findings of the fetal hydantoin syndrome: growth retardation, microcephaly, mental retardation, and a distinct hysmorphic pattern. Both exhibited a ridged metopic suture, hypertelorism, a short nose with a broad base, hypoplasia of the distal phalanges and nails of the toes, and inguinal hernias. In addition the 18-month-old girl exhibited epicanthal folds, strabismus, ptosis, and a small ventricular septal defect; she had been exposed in utero to 300 mg mesantoin daily. Her 6 1/2-year-old brother was more severely retarded, lacking speech and presenting with infantile autism. During pregnancy the mother had taken 400 mg mesantoin daily. About half of the offspring of epileptic women treated with hydantoin during pregnancy are mentally retarded, and 11% exhibit in addition the pattern of dysmorphic findings known as the fetal hydantoin syndrome. Hydantoin should therefore be strictly avoided in epileptic women of child-bearing age unless safe contraceptive measures are taken. In the event of pregnancy, therapeutic abortion should be considered if hydantoin therapy must be maintained.
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PMID:[Fetal hydantoin syndrome in siblings]. 10 83

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 comparative study of developmentally disturbed children as well as normal children is presented with a focus on their position in the family. Demographic data were compared for three groups of Japanese children, with a mean age of 4 years 7 months, who were diagnosed as autistic, cerebral palsied, and trisomic (trisomy 21 mongoloid). The areas compared were maternal age at birth, ratio of males to females, number of siblings, birth order, and age interval between the subject and the closest younger sibling. The normal kindergarten children with a mean age of 4 years 6 months, as well as the Japanese general population, were also compared for these demographic items. The findings on maternal age and sex ratio for these three nosological groups are consistent with recent studies. Although the reproduction of mothers of either cerebral palsied or mongoloid children ceases after the birth of the propositi, the reproduction of mothers of autistic children does not show significant difference from that of normal children's mothers. The age intervals between the subjects and the closest younger sibling do not differ among the three groups or in the normal group.
J Autism Child Schizophr 1975 Sep
PMID:Intrafamilial incidence of autism, cerebral palsy, and mongolism. 12 44

Mothers of autistic, Down's syndrome, and outpatient psychiatric clinic children completed a questionnaire about their attitudes toward the identified child and the effects of the child on themselves and their families. A canonical correlation between the 15 questionnaire scales and three groups revealed a general retardation/social dependency factor separating the mothers of the two retarded groups from the clinic sample. The autism group was differentiated from the Down's syndrome group by scales measuring severity of the child's handicap and family integration problems more than by scales measuring stress on the mother. The hypothesis that mothers of autistic children would report more problems than both other groups was supported; the hypothesis that mothers of Down's syndrome children would report more problems than mothers of outpatient clinic children was not.
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PMID:Mental retardation and stress on the parents: a contrast between Down's syndrome and childhood autism. 12 6

Experimental data on memory ability of autistic children is scarce and contradictory. It is suggested that this may in part be the result of failure to control for acquisition of the correct response before memory is tested. In the first experiment reported, acquisition was controlled in a delayed-response visual discrimination task. The performance of autistic children was compared with MA matched normal and retarded controls. Recall deteriorated with increasing delay interval in each group. There were no significant group differences. The second experiment was designed to measure the effects of interference on memory using a serial memory task. No differences were found among groups in rate of learning, although the autistic children improved significantly on the second and longer series. There was no relationship between performance on the STM and the serial memory tasks over the same time intervals for any group. The results are interpreted as supporting the view that when MA and response acquisition level are equated with normal and retarded children in a memory task, autistic children do not show any specific memory deficits.
J Autism Child Schizophr 1976 Jun
PMID:Short-term and serial memory in autistic, retarded, and normal children. 13 93

The evolution of the normalization principle is described. Whereas the principle initially advocated normalizing individual lives and routines, it presently is being applied to entire human service delivery systems. The need for more data supporting proposals to normalize human service systems is discussed, as well as some disadvantages in applying this approach with psychotic children. It is concluded that a wide range of treatment options for psychotic children is needed and that these options should be evaluated based on their effectiveness with individual children.
J Autism Child Schizophr 1976 Dec
PMID:Implications of the normalization principle for psychotic children. 13 26

Although there are associations linking autism with prenatal rubella, cytomegalovirus, syphilis, and varicella, the etiology of the autistic state remains obscure. Host defense against the etiologic agents postulated to be responsible for the autism-associated syndromes is believed to be primarily of the cell-mediated type. In this preliminary study, cellular immune function was assessed in vitro by phytohemagglutinin (PHA) stimulation of lymphocyte cultures. Twelve autistic children and 13 control subjects were compared. The autistic group exhibited a depressed lymphocyte transformation response to PHA when compared to the control subjects (p less than .01).
J Autism Child Schizophr 1977 Mar
PMID:Depressed lymphocyte responsiveness in autistic children. 13

Comparison of the properties of blood platelets and serotonergic synaptosomes suggests that the human platelet can serve as an appropriate model for the transport, metabolism, and release of serotonin (5-HT) by CNS serotonergic neurons. The study of blood 5-HT levels and platelet 5-HT pharmacodynamics in patients with a variety of psychiatric and neurologic disorders has generated interesting leads into possible abnormalities of CNS 5-HT neurons in these patients. This article reviews the experimental evidence, which uses the human platelet model to investigate neurotransmitter-related abnormalities in Down syndrome, mental retardation, infantile autism, hyperactivity syndromes (minimal brain dysfunction), schizophrenia, affective disorders, Duchenne muscular dystrophy, Parkinson disease, Huntington chorea, and migraine headaches.
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PMID:The human platelet. A diagnostic and research tool for the study of biogenic amines in psychiatric and neurologic disorders. 14 Jun 32


J Autism Child Schizophr 1978 Jun
PMID:Rights of the handicapped. 14 88

The prevalence, in children aged under 15, of severe impairments of social interaction, language abnormalities, and repetitive stereotyped behaviors was investigated in an area of London. A "socially impaired" group (more than half of whom were severely retarded) and a comparison group of "sociable severely mentally retarded" children were identified. Mutism or echolalia, and repetitive stereotyped behaviors were found in almost all the socially impaired children, but to a less marked extent in a minority of the sociable severely retarded. Certain organic conditions were found more often in the socially impaired group. A subgroup with a history of Kanner's early childhood autism could be identified reliably but shared many abnormalities with other socially impaired children. The relationships between mental retardation, typical autism, and other conditions involving social impairment were discussed, and a system of classification based on quality of social interaction was considered.
J Autism Dev Disord 1979 Mar
PMID:Severe impairments of social interaction and associated abnormalities in children: epidemiology and classification. 15 84


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