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

A patient with evidence of both infantile autism and tuberous sclerosis syndrome is presented. A possible relationship between the 2 syndromes is discussed. Examination of the skin of young, very disturbed children is recommended.
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PMID:Tuberous sclerosis and autistic behavior. 76 36

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

Fifty-nine cases with infantile autism/autistic disorder were subclassified according to associated medical condition (fragile-X, tuberous sclerosis, neurofibromatosis, hypo-melanosis of Ito, Moebius syndrome, Rett syndrome, and a 'new' syndrome associated with a marker chromosome). It was concluded that, even within a group of cases fitting currently accepted criteria for autism, there is considerable variation in symptom profile depending on the exact type of associated medical condition.
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PMID:Subgroups in autism: are there behavioural phenotypes typical of underlying medical conditions? 162 12

The neuropsychological performances, outcome of epilepsy and MRI topography of tubers of 23 children with tuberous sclerosis were reviewed. Seven children had normal intelligence, 10 had mental retardation, and six mental retardation and autism. An adverse association was found between the number of lesions and IQ, behaviour and severity of epilepsy. Posterior lesions, in addition to frontal-lobe dysfunction, were observed in children with autism. Tuberous sclerosis with well-defined cerebral lesions may represent a model for the relationship between different neuropsychiatric problems.
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PMID:Neuropsychological aspects of tuberous sclerosis in relation to epilepsy and MRI findings. 191 24

Magnetic resonance imaging (MRI) was performed in 270 patients with various neurologic complaints (1-15 Y) with a 0.5 tesla superconducting imaging system (MRT-50 A, Toshiba Co.) using a field echo sequence (TR/TE: 300 ms/14 ms) and a spine echo sequence (TR/TE: 2,000 ms/100 ms or 2,000 ms/120 ms, and 2,000 ms/30 ms). The slice thickness was 10 mm. Hyperintensity areas on T2-weighted images were noted at the occipital lobe in 33 patients (12.2%). Twenty-seven of them had hyperintensity within the deep white matter, which revealed iso- or hypointensity on T1-weighted images. The diagnosis for the 27 patients included medulloblastoma after multidisciplinary therapy (1), congenital heart disease (1), neurofibromatosis (1), tuberous sclerosis (1), congenital muscular dystrophy (1), congenital myotonic dystrophy (2), febrile convulsion (2), autism (3), epilepsy (9) and unknown causes (6). Because the hyperintensity areas are age-dependent, they may result from delayed myelination in the central nervous system.
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PMID:[Deep white matter hyperintensity in occipital lobe on T2 weighted magnetic resonance imaging]. 193 Nov 65

Two behavior genetic research strategies have been utilized to understand gene influences in autism. There is overwhelming evidence for gene involvement, although an exact mode of inheritance has not yet been elucidated. Family and twin studies illustrate that the clinical phenotype of autism is not sufficient to characterize the underlying genotype(s) involved. Exactly what should be included in the phenotype remains elusive. Cognitive and social deficits are indicated as milder variants of the autism phenotype, but precisely how to define these deficits requires further research. Furthermore, more complex models of inheritance (e.g., two-locus models--multifactorial and major gene) may be necessary to explain gene influences in autism. Genetic heterogeneity is indicated in autism, with an X-linked disorder, fragile X, and an autosomal dominant disorder, tuberous sclerosis, together accounting for perhaps 8% to 11% or more of cases of autism. Differences in family patterns (i.e., recurrence risks) of neuropsychiatric disorders between autism with and without mental retardation or other clinically defined groups (e.g., males and females) are suggested. Whether these differences represent genetic heterogeneity or multifactorial inheritance with varying thresholds (e.g., of severity or sex differences) cannot be distinguished on the basis of the data available to date. Autosomal recessive inheritance is suggested in a subgroup of families with autism, but the proportion of all autism that may be accounted for by autosomal recessive inheritance is unknown. Evidence exists that stoppage occurs in families with autism, however, and this can affect accurate estimates of segregation ratios when not taken into account. Future family studies need to report (1) exact ascertainment schemes and specification of probands and (2) sex and birth order of affected siblings, including sibship size, so that data may be pooled and such effects can be tested. Investigations of populations with fragile X or tuberous sclerosis as well as those with autism (without known genetic disorders) will identify the etiologic basis of these associations. Such associations may be due to linkage of genes underlying autism and those underlying the known genetic disorders (i.e., linkage disequilibrium) or shared brain pathophysiology or merely shared overt behaviors. Until such mechanisms are elucidated, we can use only empiric risk figures in genetic counseling situations of autism, assuming that no known genetic or environmental cause is identified. Pooling available data from family and twin studies, the following empiric risks are suggested for genetic counseling purposes. An average sibling risk (frequency of affected siblings among all siblings) based on pooled data is 3% (i.e., 57/1698).(ABSTRACT TRUNCATED AT 400 WORDS)
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PMID:Genetic influences in autism. 204 27

This case study presents the history of a child diagnosed with severe tuberous sclerosis (TS) with an original prognosis of severe to profound mental retardation. Infantile spasms and seizures were eventually controlled, and with educational and therapeutic intervention, this child progressed until she was functioning within normal limits by age 4. This paper presents the position that early diagnosis, early seizure control, and early multidisciplinary intervention are crucial in reducing the poor prognosis in such cases.
J Autism Dev Disord 1984 Dec
PMID:Tuberous sclerosis: case study of early seizure control and subsequent normal development. 609 76

The purpose of this study is to test the hypothesis that major affective and/or anxiety disorders are increased among relatives of autistic probands compared with controls. Among 36 families with an autistic child, 23 (64%) have a first degree relative diagnosed with major depressive disorder and 14 (39%) have a first degree relative diagnosed with social phobia. These rates are significantly greater than the 19% and 5%, respectively, found among 21 families with a child having a genetic condition, tuberous sclerosis complex, or a seizure disorder but no autism. The frequency of major depression among the 96 first degree relatives of autistic probands is 37.5% compared with 11.1% found among 45 relatives of control probands. The frequency of social phobia, 20.2%, is approximately 10 times more common than that found among the relatives of the control probands (2.4%). Elevated rates of both major depression and social phobia are found among parents and siblings in the families with an autistic child. Furthermore, 64% of parents affected with a major depression had the onset of the first depressive episode prior to the birth of the autistic child and all parents with social phobia had the onset of condition prior to the birth of the autistic child. Family patterns differ depending on the intellectual level of the autistic child; specifically, social phobia is significantly greater among the first degree relatives of non-retarded autistic probands than among relatives of individuals with autism and comorbid mental retardation.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:Autism, affective disorders, and social phobia. 748 30

The complex relationship between epilepsy, language, and behavior is not well understood. Neurologic disorders such as Landau-Kleffner syndrome, electrical status epilepticus during slow-wave sleep, infantile spasms, Lennox-Gastaut syndrome, tuberous sclerosis, autism, and developmental language disorders are useful clinical models in the investigation of this complex relationship. These disorders are reviewed in terms of their contribution to our present knowledge of the relationship between epilepsy, language, and behavior. Present management issues and directions for future research are discussed.
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PMID:Epilepsy, language, and behavior: clinical models in childhood. 751 8

During the last five years, it has been recognized a very high incidence of autism in children affected by tuberous sclerosis; we believe that this association may be more than just a coincidence and that it may be that the autistic behavior spectrum is related to a great extent, to the anatomic localization of tubers in the frontal and temporoparietal areas. In this study we report our experience with 27 consecutive children, 12 boys and 15 girls with a diagnosis of tuberous sclerosis confirmed by clinical and MRI and or CT findings according to the diagnostic criteria developed by the Diagnosis Criteria Committee of the National Tuberous Sclerosis Association. They were studied during the period of 1988 to 1990. Ages range from 18 months to 16 years (mean: 6.5 years). Twenty-four had epilepsy and were receiving antiepileptic treatment. Seven of the 27 children (25.9 per cent) fulfilled the diagnostic criteria for autistic disorder according to the DSM-III-R. The autistic behavior was evident in all of them by three and half years. The seven children had mental retardation. MRI and CT findings with subependymal calcifications and cortical tubers of frontal and temporoparietal predominance were seen in five of the seven autistic children. In one child, CT was normal and in the other it was not performed. Five were girls and all had West syndrome; two were boys and neither had seizures. Most of the reported cases of children with tuberous sclerosis and autism had experiences West syndrome. In our patients, five of the seven children with autism had west syndrome.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:[Autism in tuberous sclerosis]. 760 68


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