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Query: UMLS:C0004352 (autism)
 32,579 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

We present two women with the fragile X syndrome (Martin-Bell syndrome) and autism. Both are mentally retarded, one mildly and one severely. Cytogenetic studies showed a high percentage of lymphocytes with the fragile X chromosome and inactivation occurring preferentially in the normal X chromosome. Autism is shown to be a severe behavioral and cognitive manifestation of the fragile X syndrome in females.
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PMID:Autism in fragile X females. 395 55

Fifty males with the fragile X [fra(X)] syndrome, which we consider synonymous with the Martin-Bell syndrome, were identified by a chromosome analysis of patients with developmental delays or mental retardation and family studies of known fra(X) pedigrees. These males were evaluated for autism using three criteria: 1) the DSM III diagnostic criteria for Infantile Autism; 2) the Autism Behavior Checklist (ABC); and 3) the Diagnostic Checklist for Behavior Disturbed Children, Form E2. Sixteen percent of patients fulfilled all of the DSM III criteria for Infantile Autism and an additional 30% fulfilled criteria for Infantile Autism Residual State. Thirty-one percent of patients had autism using the ABC checklist but none of the patients fit the classical Kanner syndrome as described by the E2 questionnaire. Some autistic traits were seen in almost all of the 50 fra(X) patients, including eye avoidance in 90%, handflapping, handbiting or handstereotypies in 88%, and language delays with language peculiarities, usually echolalic speech, in 96%. A pervasive lack of responsiveness was seen in 18% at their present age and in 44% in earlier childhood only. Autistic symptoms are common in the fra(X) syndrome. Therefore, any patient with developmental delays and autism or autistic manifestations should have a chromosomal analysis, including fra(X) examination.
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PMID:An analysis of autism in fifty males with the fragile X syndrome. 395 54

The fragile X syndrome has been associated with autism. Blood samples from 37 autistic children and a control group were negative for fragile X chromosome. Large numbers of nonrandom autosomal lesions were observed in both the autistic and control groups.
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PMID:Association of fragile X syndrome with autism. 396 68

In a Swedish multicenter study, 102 cases of infantile autism (I.A.) were examined for fragile X (q27). The fragile X syndrome was observed in 13 of the 83 (16%) boys with I.A., but in none of the 19 girls with I.A.
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PMID:Frequency of the fragile X syndrome in infantile autism. A Swedish multicenter study. 397 44

The fragile X syndrome is a frequent cause of developmental disabilities. It is associated primarily with nonprogressive X-linked mental retardation. The neurodevelopmental abnormalities of 25 males and 3 females are described. Mental retardation was mild in 4, moderate in 11, severe in 6, and profound in 2 patients, while 4 patients had only learning disabilities. The presence or absence of a developmental disability could not be determined in the youngest (8 months). Seven patients had had infantile autism and 7 had epilepsy. Generally no major focal neurological abnormalities were observed but most of the patients exhibited minor signs. The severity of developmental disabilities in our patients varied between and within families and between genders. All adult males had macroorchidism. Unusual facial features were present in 13 males but none were seen in the females. Familial occurrences were found in 18 cases (64%); 10 cases (36%) were sporadic. Overall, males were more severely affected than females. Diagnostic tests including computed tomographic scans, electroencephalograms, and evoked potentials did not disclose any specific abnormalities.
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PMID:Fragile X syndrome: associated neurological abnormalities and developmental disabilities. 408 49

A family with fragile-X syndrome is reported. One sibling has atypical pervasive developmental disorder and moderate mental retardation. A second sibling has Tourette's syndrome, moderate mental retardation, seizure disorder, and autism. A third sibling has attention deficit disorder, moderate mental retardation, and developmental language disorder, expressive type. The authors believe that this family represents a classic example of the differential outcome of interactions of common biogenetic and environmental influences. We propose that in this family the multipotential outcome is at least influenced by if not caused by a common genetic defect.
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PMID:A family with fragile-X syndrome. 659 Jul 82

Ten patients with the fragile X syndrome were diagnosed at the Child Development Unit in 1982. Six of these patients are autistic and demonstrate similar profiles on three evaluations designed to measure the severity of autism. The similarities of these six autistic patients are described in depth.
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PMID:Autism and the fragile X syndrome. 663 May 29

In a continuing twin study of autism in Scandinavia and Finland, moderately mentally retarded triplets fulfilling Rutter's criteria for infantile autism were reported. Judging by physical appearance the triplets were identical. Behaviourally they were extremely similar though one was intellectually slightly better than the other two. All three showed the physical stigmata characteristic of the fragile-X syndrome, in spite of their overall appearance being non-conspicuous. The triplets had between 8 and 12 per cent of fragile-X positive cells and showed a distinct pattern of urinary excretion of substances yielding absorbency at 280 nM. Their mother and sister also had a high count of fragile-X positive cells.
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PMID:Identical triplets with infantile autism and the fragile-X syndrome. 668 62

This report presents two male siblings in whom the diagnosis of infantile autism was found in association with a fragile site on the X chromosome. In addition to their marked autistic characteristics, formal examinations indicated that both boys were severely mentally retarded and had several physical features commonly observed in association with the fragile-X syndrome. The mother of these two siblings also gave birth to identical twin boys, who were developmentally delayed and showed several autistic features prior to their untimely death in a house fire. The possible role of the fragile-X chromosome as an etiological factor in families where there is a clustering of autism and related developmental disturbances is discussed.
J Autism Dev Disord 1984 Jun
PMID:Familial autism and the fragile-X chromosome. 674 7

Recently a new form of human mutation-expansion of trinucleotide repeats-has been found to cause the diseases of fragile X syndrome, spinal and bulbar muscular atrophy, myotonic dystrophy and, most recently, Huntington's disease. We review the emerging data on the genetics and neurobiology of these disorders. Three are characterized by unusual patterns of inheritance, in particular, genetic 'anticipation', in which the severity of the disorder increases and the age of onset decreases in successive generations of a pedigree. Several idiopathic neuropsychiatric disorders have features of inheritance consistent with anticipation. In bipolar affective disorder, there is evidence for both earlier age of onset and more severe illness in the second generation of a subset of unilineal pedigrees. There is also the suggestion of anticipation in some forms of schizophrenia, spinocerebellar atrophy and autism. Triplet repeats are present in additional known genes, both in coding regions and untranslated regions. Furthermore, many novel genes with triplet repeats are expressed in the human brain, and these are candidates to cause some forms of these neuropsychiatric disorders.
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PMID:Genes with triplet repeats: candidate mediators of neuropsychiatric disorders. 768 67


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