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

Although tuberous sclerosis is associated severe learning disability, it is also a physical disorder with growths that affect any part of the body. Recent genetic research explains the diversity of the condition. The behavioural phenotype of tuberous sclerosis has shown the autism and attention deficit disorder associated with the brain lesions.
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PMID:Gaining new understanding of tuberous sclerosis. 766 26

In a population-based sample of 28 individuals under the age of 20 years, autistic symptoms were present in 24 and DSM-III-R autistic disorder in 17. Many of the children and adolescents diagnosed as autistic also showed attention deficit/hyperactivity. There was no specific association between autistic behaviour and the presence of infantile spasms. Some of the children with tuberous sclerosis and autism were of near-normal intelligence. Indirectly, the results suggest that as many as 9 per cent of all children with autism may have tuberous sclerosis.
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PMID:Autistic behaviour and attention deficits in tuberous sclerosis: a population-based study. 813 14

An estimate of the prevalence of autism in tuberous sclerosis (TSC) was made by interviewing the parents of 21 children between ages 3 and 11 ascertained during a previous population study of the condition in the West of Scotland. Five of the children (24%) were rated autistic and a further four (19%), all of whom were girls, had socially impaired behavior categorized as pervasive developmental disorder, without fulfilling all the DSM-III-R criteria for autism. One further boy had disruptive attention-seeking behavior that had excluded him from his normal school. The estimated prevalence from this study of autism in TSC is 1 in 4 children in general, and 1 in 2 of those with mental retardation. Tuberous sclerosis could be a significant cause of autism and pervasive developmental disorders, particularly in girls.
J Autism Dev Disord 1993 Jun
PMID:A prevalence study of autism in tuberous sclerosis. 833 Oct 50

We report on two pre-adolescent boys with a combination of severe seizure disorders and severe-moderate autism who underwent brain surgery for their epilepsy at the ages of 9 and 10 years, respectively. Both boys became seizure-free and initially improved dramatically with regard to autism symptoms. One of the boys continued to improve, but the other had a relapse to his pre-operative state in conjunction with his pubertal growth spurt. Several years after surgery, one of the boys remained much improved with respect to his autism. The other subject showed some improvement with respect to self-injury and aggression, and had slightly lower scores on screens for autism symptoms than in the year preceding epilepsy surgery. The histopathological examination of the brain tissue that was removed at surgery suggested a diagnosis of tuberous sclerosis in both cases.
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PMID:Autism and epilepsy (and tuberous sclerosis?) in two pre-adolescent boys: neuropsychiatric aspects before and after epilepsy surgery. 893 61

Tuberous sclerosis is often associated with developmental and behavioural disorders including typical or partial autistic syndrome. However, it may be difficult to recognize tuberous sclerosis behind an infantile autism during the early stages of the disease. Therefore, tuberous sclerosis must be regularly looked for on the basis of its major and minor criteria in any cases of infantile autism. The child psychiatrist is preferentially involved in the management of the various aspects of this association, ie, behavioural or character disorders, difficulties in social relationships and communication, mental retardation, feeding disorders, and psychological consequences for the families. The support provided may be complemented by that offered by the Association for Bourneville's tuberous sclerosis.
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PMID:[Bourneville's tuberous sclerosis and autism]. 909 30

The literature on associated medical diseases in autism is contradictory and so are the guidelines for medical routine screening. Recommendations draw on epidemiological and population-based research. It was necessary to know the diagnostic yield from patient groups referred to psychiatric clinics. 49 autistic probands were selected from a large clinic pool referred to the Department of Child Psychiatry, Haukeland Sykehus, University Hospital in Bergen, Norway, over the 25 years 1970 to 1995. Detailed analyses were performed regarding referring agent, family history, perinatal data, medical and developmental history, psychometric data, and clinical, neurological and laboratory examination. Our clinical sample deviated from the accepted characteristics of autism: All except one (98%) were mentally retarded. Yet tuberous sclerosis, fragile X syndrome and other known medical disorders said to be associated with autism were not found. More common medical disturbances were found regularly also in those with a higher level of functioning. The likelihood that our blind screening, with comprehensive laboratory examination, would yield positive results was negligible. These clinically important differences, together with a unique make-up of developmental deviances and delays, necessitated individually tailored assessment and treatment in most cases.
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PMID:[Quality assurance of psychiatric work with autistic children and adolescents. Diagnostic value of medical examination]. 934 Aug 48

The frequency and clinical presentation of autism in 28 probands with tuberous sclerosis complex (TSC) are reported and risk factors that may influence the development of autism in TSC are examined. Eight probands meet ICD-10 and DSM-IV criteria for autism, an additional 4 meet criteria for pervasive developmental disorder (PDD). Twelve TSC probands with autism/PDD are compared to 16 TSC probands without these conditions for factors which may underlie the association of autism and TSC. A specific seizure type, infantile spasms, as well as mental retardation, are increased in the TSC, autistic/PDD group. Furthermore, rates of social phobia and substance abuse are elevated among first-degree relatives of TSC probands with autism compared to first-degree relatives of TSC probands without autism. Implications of these findings in understanding the association of autism and TSC are discussed.
J Autism Dev Disord 1998 Apr
PMID:Autism in tuberous sclerosis complex. 958 71

This study employed a hierarchical assessment to detect the prevalence of autism in a clinic sample of individuals with tuberous sclerosis complex (TSC). After screening subjects with the Autism Behavior Checklist, subsequent evaluations with the Autism Diagnostic Interview, and direct clinical observation, the prevalence of autistic disorder in this sample of 20 subjects was conservatively estimated at 20%. Data suggest a possible association between both hypsarrythmia and TSC-related cardiac abnormalities with autism in this subgroup of TSC individuals. Implications of these findings for clinical practice and further research are discussed.
J Autism Dev Disord 1998 Aug
PMID:Autism and tuberous sclerosis complex: prevalence and clinical features. 971 84

Autism and pervasive developmental disorders (PDD) are common in tuberous sclerosis (TSC). The frequency of autism is about 25%, with 40-45% of TSC cases meeting criteria for autism or PDD. Among autistic populations, the frequency of TSC is 1-4% and perhaps as high as 8-14% among the subgroup of autistic individuals with a seizure disorder. Mental retardation (MR) and seizures, particularly infantile spasms, are significant risk factors in the development of autism/PDD in TSC; however, neither are sufficient or necessary for the development of these behaviors. The mechanism underlying the association of autism and TSC is as yet unclear but clinical features and neuroimaging investigations suggest that an abnormal TSC gene may directly influence the development of autism rather than it being a secondary effect of seizures or MR. The presence of autism/PDD may arise if the TSC gene mutations occur at critical stages of neural development in neural tissue of brain regions critical in the development of autism.
J Autism Dev Disord 1998 Oct
PMID:Autism and tuberous sclerosis. 981 76

The article reports two cases of childhood autism in tuberous sclerosis (TS). Certain atypical features are highlighted. The probands did not show the common seizure types associated with either TS or autism. No ventricular dilatation, cerebral atrophy or temporal lobe involvement was evident. The high prevalence of childhood autism in TS probands with moderate to severe mental retardation has been emphasized.
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PMID:Childhood autism in tuberous sclerosis. 1077 14


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