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

A 23-year-old male patient with Becker muscular dystrophy (BMD) who showed schizophrenic symptoms was reported. He tumbled easily and was poor at running since age at 8 years. He had difficulty in climbing stairs and was idle away all day long since age at 21 years. Although his premorbid personality was not schizoid, he showed auditory hallucinations and delusions without any psychogenetic moment at the age of 23. At first, he seemed to be schizophrenic, but after the treatment with antipsychotics, he always had an insight into his disease and exhibited natural emotional communication. He showed no autism and character changes. According to the Wechsler Adult Intelligence Scale (WAIS), intellectual impairment was notified (total IQ58). Neurological examinations revealed weakness and atrophy of muscles in the proximal part of his lower extremities, and pseudohypertrophy of calves. In the serum enzyme, serum creatine kinase (CK) level was elevated (700 U/L). Abnormal Q waves appeared in the leads, II, III, aVF, V5, V6 on the electrocardiogram (ECG), and the finding of the echocardiography suggested dilated cardiomyopathy. The electroencephalogram (EEG) revealed the basic rhythm of 9-10 Hz with 0 activities of 6-7 Hz which were predominant in frontparietal and central leads. The electromyogram (EMG) revealed a myopathic pattern with low voltage and short duration. A muscle biopsy from right biceps brachii disclosed the abnormal immunofluorescent staining pattern of dystrophin which is consistent with BMD patient, i.e., "patchy," discontinuous and faint immunoreaction at surface membrane of the fiber. Both molecular weight (380 kd: n = 400) and amount (30%; n = 100) of dystrophin were reduced.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:[A case of Becker muscular dystrophy with schizophrenic symptoms]. 207 51

The case histories are presented of three 17 year old identical male triplets with Asperger's syndrome. They show the impairments affecting social interaction, non-verbal communication and imagination, the motor clumsiness, and the circumscribed interests characteristic of that condition. They also have some features in their history and present behaviour more typical of childhood autism. Despite marked overall similarities, the three differ in the severity with which their problems are manifested. A relationship can be found between the amount of peri- and post-natal trauma, degree of intellectual impairment and number of autistic features. The findings support the hypothesis that autism and Asperger's syndrome are on the same continuum of pathology.
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PMID:Identical triplets with Asperger's syndrome. 668 63

Evidence for the increasing recognition of maturational lag in addition to intellectual impairment, associated with the syndrome of early-onset psychosis, is presented to indicate that developmental variables play a central role in the behavioral profile of autistic children. The failure of research to give methodological consideration to control of these variables is discussed, and implications for the interpretation of results from experimental studies are outlined. It is suggested that the distinction between controlling not only for mental age but also for chronological age to facilitate the delineation of specific deficits in this syndrome.
J Autism Dev Disord 1981 Sep
PMID:General maturational lag as an essential correlate of early-onset psychosis. 676 11

This experiment was designed to determine whether increasing evidence of generalized developmental delay in early-onset psychosis was apparent at a cortical level in autistic children. Using magnitude of dominant ear advantage as an indicator of relative cerebral dominance, unwarned simple reaction time (RT) to monaural presentation of tones was investigated in matched groups of autistic, retarded, and normal children. Analysis of RTs and relative ear advantage as a function of group membership and chronological age indicated that the autistic children showed significant developmental delay in both RT and the establishment of cerebral dominance compared to the control groups. These results thus provide additional evidence of generalized maturational delay at a cortical level in early-onset psychosis, and suggest that the maturational delay of the autistic children is more extensive than the developmental deficits implied by their intellectual impairment.
J Autism Dev Disord 1983 Mar
PMID:Developmental effects in the cerebral lateralization of autistic, retarded, and normal children. 685 38

A large number of investigation techniques are used to establish the relationships between the clinical and biological data which are necessary for physiopathological analysis in the field of developmental disorders. It therefore seemed necessary to develop a quantified grouping system, based on developmental assessments, which could allow closer matching between clinical evaluations and biological numerical data. Two hundred and two subjects presenting developmental disorders (autistic disorder, pervasive developmental disorder not otherwise specified and mental retardation) were examined. For each child, a quantification of autistic behaviour, intellectual impairment, neurological signs and language and communication disorders was performed. A cluster analysis of these quantified data elicited four subgroups according to the scores obtained in these four different areas. We showed the value of this approach by applying it to one of the studies of monoamines routinely examined in childhood autism--dopamine and HVA, its main urinary derivative. Moreover, this method revealed a subgroup within the total population which was independent of nosographic classification and which had a particular clinical and biochemical profile. Other applications could follow, for example in the fields of neurophysiology, cerebral imaging, molecular biology and genetics.
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PMID:Quantified multidimensional assessment of autism and other pervasive developmental disorders. Application for bioclinical research. 779 50

1. Fragile X syndrome is defined by the combination of a characteristic phenotype, cognitive impairment, the presence of a fragile site (gap) detectable in folate-free culture medium on Xq27.3 called FRA X A, and transcriptional inhibition, through overmethylation, of an mRNA protein-binding gene called FMR-1. 2. It is inherited in an atypical X-linked dominant way and affects about 1 in 1000 males and 1 in 2000 females; about 1 in 700 females is a carrier. 3. A characteristic but subtle phenotype includes an elongated face and mandible, large ears, macrocephaly with bizygomatic pinching, soft skin, inconsistent mitral valve prolapse, macroorchidism, mildly shortened stature in adulthood, and characteristic behavior that may resemble autism and attention deficit disorders. Intellectual impairment in affected individuals varies from mild to severe, with a majority of affected males within the moderate range of cognitive disability. Twenty percent of males with the mutation are phenotypically and intellectually unaffected. They ae called transmitting males. 4. Female heterozygotes may be indistinguishable from the general population, or they may have subtle physical signs or both physical and intellectual impairment. 5. Sensory motor integration is the therapy of choice for the learning disabilities in children with fragile X syndrome. The benefits of folic acid supplementation are equivocal. 6. A sensitive and understanding support system for the patient and extended family is an inseparable component of appropriate management of fragile X syndrome. 7. Molecularly the mutation is characterized by varying lengths of DNA fragments consisting of the trinucleotide CGG. It is repeated about 6 to 50 times in the normal population and approximately 51 to 200 times in unaffected individuals with a so-called premuation who are at risk for expansion and transmission to offspring. Individuals with over 200 repeats are usually affected and said to have a full mutation. 8. The physician caring for a family with fragile X syndrome should work with an experienced genetics center, counselor, and a laboratory with expertise.
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PMID:Fragile X syndrome. 799 87

To study the relationships between clinical and biological data that are necessary for physiopathological analysis in the field of developmental disorders, we developed a quantified grouping system, based on four developmental assessment parameters. Parallel with this clinical research, we developed electrophysiological procedures adapted to the pathology of autism. In this paper, we report the utilization of an original multivariate descriptive statistical approach (correspondence analysis followed by cluster analysis) that allowed us to identify different bioclinical profiles using these clinical and electrophysiological data conjointly. These profiles are believed to be evidence for different underlying cerebral dysfunctions. This procedure proved effective in identifying two main bioclinical dimensions in a population of 145 developmentally disordered children. These dimensions reflect the association of intellectual impairment and centroparietal electrophysiological reactivity on the one hand, and autistic behavior and temporal electrophysiological reactivity on the other. This study, performed on a large population of children using objective methods of data analysis, provides validation of numerous multidisciplinary studies of autism and other developmental disorders carried out on small samples of children.
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PMID:Bioclinical profiles of autism and other developmental disorders using a multivariate statistical approach. 942 85

A group of 199 children and adolescents (153 boys, 46 girls) with autistic disorder was audiologically evaluated. Mild to moderate hearing loss was diagnosed in 7.9% and unilateral hearing loss in 1.6% of those who could be tested appropriately. Pronounced to profound bilateral hearing loss or deafness was diagnosed in 3.5% of all cases, representing a prevalence considerably above that in the general population and comparable to the prevalence found in populations with mental retardation. Hearing deficits in autism occurred at similar rates at all levels of intellectual functioning, so it does not appear that the covariation with intellectual impairment per se can account for all of the variance of hearing deficit in autism. Hyperacusis was common, affecting 18.0% of the autism group and 0% in an age-matched nonautism comparison group. In addition, the rate of serous otitis media (23.5%) and related conductive hearing loss (18.3%) appeared to be increased in autistic disorder. The study emphasizes the need for auditory evaluation of individuals with autism in order to refer those with pronounced to profound hearing loss for aural habilitation and to follow those with mild to moderate hearing loss because of the risk of deterioration.
J Autism Dev Disord 1999 Oct
PMID:Autism and hearing loss. 1058 81

The purpose of this study is to provide a microanalysis of differences in adaptive functioning seen between well-matched groups of school-aged children with autism and those diagnosed as having Pervasive Developmental Disorder-Not Otherwise Specified, all of whom functioned in the mild to moderate range of intellectual impairment. Findings indicate that the major area of difference between children with autism and those with Pervasive Developmental Disorder-Not Otherwise Specified, was expressive communication; specifically, the use of elaborations in syntax and morphology and in pragmatic use of language to convey and to seek information in discourse. Linear discriminant function analysis revealed that scores on just three of these expressive communication item sets correctly identified subjects in the two diagnostic categories with 80% overall accuracy. Implications of these findings for both diagnosis and intervention with children with Autism Spectrum Disorders will be discussed.
J Autism Dev Disord 2004 Apr
PMID:Adaptive behavior in autism and Pervasive Developmental Disorder-Not Otherwise Specified: microanalysis of scores on the Vineland Adaptive Behavior Scales. 1516 40

Duplication of part or the entirety of chromosome 15 that involves the Prader-Willi/Angelman syndrome critical region (PWACR) is a genetic disorder which is associated with variable degrees of intellectual impairment, motor co-ordination problems and social and communication disorders. Published case reports indicate that phenotypic expression is dependent on parental origin of the duplication and implicate maternally derived duplications in the pathogenesis of autistic features. This article describes three individuals, two males and one female, aged between 5 and 8 years, all with partial duplication of chromosome 15. Autism (or autistic spectrum disorder) was present in all three instances with varying degrees of cognitive impairment. The aim of this paper is to describe the phenotypic characteristics of this genetic sequence and the possible associations between social and behavioural patterns on the one hand, and degree and nature of genetic impairment on the other.
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PMID:Autistic spectrum disorder associated with partial duplication of chromosome 15; three case reports. 1561 52


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