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

A population based statistical analysis was performed of the incidence of developmental disabilities in Higashi-Osaka, a city in Osaka Prefecture with a population of about 500,000. The number of live births during 1988-1992 was 24,980, of whom those with cerebral palsy (CP), severe motor and intellectual disability syndrome (SMIDS), infantile autism, mental retardation (MR) and Down syndrome numbered 30, 21, 26, 268 and 25, respectively. And the respective incidence rates per 1,000 were 1.20, 0.84, 1.04, 10.7 and 1.0. For CP, the percentage of premature children was 63%, higher than in previous reports. Extremely low-birth-weight premature children (< 999 g birth weight) were especially notable at 20% of the CP total. For SMIDS, it is more important to understand the significance of medical care to support sufferers' social lives. High functional autistic children could not be evaluated at our center, though autism accounted for 8.6% of mental retardation. The medical functions of community institutions enable them to perform continuous, population based study of the incidence and situation of developmental disabilities.
 ...
PMID:[A study on incidence of developmental disabilities in Higashi-Osaka City, Japan, 1988-1992]. 1002 32

The aim of the study was to identify the comorbidity of autistic spectrum disorders in a population of children with Down syndrome (DS). All children with DS within a defined population of South Birmingham were identified. The Asperger Syndrome Screening Questionnaire and the Child Autism Rating Scale were completed and diagnosis made according to ICD-10 criteria following interview and observation. Thirty-three of 58 identified children completed the measures, four of whom received a diagnosis of an autistic spectrum disorder. This is equivalent to a minimum comorbid rate of 7%. The questionnaire items concerning social withdrawal, restricted or repetitive interests, clumsiness, and unusual eye contact were associated with an autistic disorder. Of the remaining 29 participating children, 11 also displayed marked obsessional and ritualistic behaviours. The comorbid occurrence of autism and DS is at least 7%. It is important that these children are identified and receive appropriate education and support. A full assessment of social, language, and communication skills and behaviour is crucial, particularly in children with DS who appear different from other children with DS. Potential mechanisms accounting for this comorbidity are discussed.
 ...
PMID:Comorbidity of autistic spectrum disorders in children with Down syndrome. 1021 Feb 47

Behavior problems of 44 children with Down syndrome between the ages of 6 and 15 and 44 controls without mental retardation matched for age, sex, and socioeconomic status were compared on the basis of mother and teacher ratings. Ratings from both sources indicated that children with Down syndrome had more behavior problems, in particular attention deficit, noncompliance, thought disorder, and social withdrawal. Life events from the past year were significantly associated with mother but not teacher ratings of Down syndrome behavior problems.
J Autism Dev Disord 1999 Apr
PMID:Behavior problems of children with Down syndrome and life events. 1038 35

The aims of this longitudinal study were: (1) to assess the continuity and change in diagnosis, intelligence, and language skills in children with autism, Down syndrome, and other developmental delays, (2) to specify the deficits in social competence and language skills in these children, and (3) to identify precursors in the preschool period of gains in language skills and of peer engagement in the mid-school years. The initial sample consisted of 70 children with autism, 93 children with Down syndrome, 59 children with developmental delays, and 108 typically developing children, with the first three groups of children studied when they were between 2 and 6 years of age. At follow-up, 51 children with autism, 71 children with Down syndrome, and 33 children with developmental delays were assessed at mean ages around 10-13 years. The long-term follow-up showed little change in the diagnosis of autism but sizeable improvements in intellectual and language abilities within the autistic group, a pattern that was not seen in the children with Down syndrome. Unique deficits in joint attention, some forms of representational play, responsiveness to the emotions of others, and initiation of peer engagement were identified in the autistic children, whereas the children with Down syndrome seemed to have a specific deficit only in language. Joint attention skills were concurrently associated with language abilities in all groups and predicted long-term gains in expressive language for the children with autism. Children with autism, regardless of their level of functioning, were less socially engaged with classmates than the other developmentally disabled children because they infrequently initiated and accepted play bids, not because they were rebuffed by peers. Early nonverbal communication and play skills were predictors of the frequency of initiations of peer play for the children with Down syndrome as well as the extent of peer engagement of the children with autism. These results suggest that improvements in early communication and play skills may have long-term consequences for later language and social competence in these groups of children.
 ...
PMID:Continuity and change in the social competence of children with autism, Down syndrome, and developmental delays. 1041 23

We are impressed with the magnitude and potential importance of the studies presented by Sigman and Ruskin in this monograph. The within-syndrome findings for the children with autism concerning relations between early joint attention and a range of cognitive abilities a full 9 years later provide the strongest evidence so far that early nonverbal communication skills play an important role in the later development of language, intelligence, and social relations with peers. The purpose of the monograph was not limited to within-syndrome research questions, however. Sigman and Ruskin state that a major goal of the research reported in the monograph was to identify specific, unique, and universal deficits for autism and Down syndrome. They base their method of identifying such syndrome characteristics on the group-matching procedure. Given that this procedure is fraught with difficulties, we are concerned that many of Sigman and Ruskin's cross-syndrome comparisons may be incorrect. We do not mean to single out Sigman and Ruskin. The group-matching method is frequently used in special populations research, with the null hypothesis of no differences on the control variable being accepted at dangerously low p values. Our concerns with the group-matching problem extend to much of the extant research that attempts to identify characteristics of individuals based on the performance of their syndrome group relative to a control group. The profiling procedure we outlined seems more fruitful and conceptually satisfying than the traditional matching method. When profiling is not possible, however, it is important to consider the impact of CA confounds and statistical decision procedures used to ensure matching on the control variable, when interpreting syndrome differences on variables of interest.
 ...
PMID:Methodological issues in cross-syndrome comparisons: matching procedures, sensitivity (Se), and specificity (Sp). 1041 22

Fragile-X syndrome is the commonest cause of inherited intellectual disability. There is good evidence for a behavioural phenotype. This has implications for school staff using standard educational techniques. Similarly, autism is known to create particular educational requirements. The present study examined the awareness and knowledge of fragile-X syndrome, Down's syndrome and autism amongst staff in special and mainstream education. One hundred and two special school staff and 40 mainstream school staff completed questionnaires. Most staff offered a variety of features 'typical' of Down's syndrome and autism. In contrast, staff knew less about fragile-X syndrome. Specific knowledge about the learning styles of these children was very poor, but was associated with having taught an affected child. Mainstream and special school staff offered similar levels of knowledge for all three conditions. Staff did not demonstrate a sufficiently specialized knowledge of fragile-X syndrome to ensure that the special educational needs of these children were being met fully.
 ...
PMID:Fragile-X syndrome, Down's syndrome and autism: awareness and knowledge amongst special educators. 1046 70

This study examined the effects of the child's diagnosis (autism vs. Down syndrome), age, and current educational placement on parental perceptions toward inclusion for their child with disabilities. Parents of children with autism and with Down syndrome completed surveys regarding their opinions on their child's current educational placement, their desire for changing the current placement, and their views on inclusive education. Results indicated that diagnosis, age, and current placement influenced parental opinion on the ideal educational placement for their child. Parents of children with Down syndrome were significantly more likely to endorse inclusion (full-time placement in general education) as the ideal educational program for their child whereas parents of children with autism were more likely to endorse mainstreaming (consistent part-time placement with general education students). Parents of younger children and parents whose children were already placed in general education programs were more positive towards inclusion than parents of older children or students currently in special education. Findings are discussed in terms of child characteristics and prevailing educational practices.
J Autism Dev Disord 1999 Aug
PMID:Parental perspectives on inclusion: effects of autism and Down syndrome. 1047 29

In a case-control study of cognitive performance, tests of intelligence, reading, spelling, and pragmatic language were administered to the parents and siblings of 90 community-ascertained probands with autism (AU group) and to the parents and siblings of 40 similarly ascertained probands with trisomy 21 Down syndrome (DS group). The two samples were comparable for age and parents' education; both groups were well-educated and had above-average intelligence. AU parents scored slightly but significantly lower on the WAIS-R Full Scale and Performance IQ, on two subtests (Picture Arrangement and Picture Completion), and on the Word Attack Test (reading nonsense words) from the Woodcock-Johnson battery. There were no differences between AU and DS siblings. As in earlier studies, AU parents, more often than DS parents, reported a history of early language-related cognitive difficulties; we were not able to replicate this in siblings. AU parents who reported such difficulties scored significantly lower on Verbal IQ, spelling, and the nonsense reading test. AU parents without a history of early language-related cognitive difficulties often had a Verbal IQ that exceeded Performance IQ by more than one standard deviation. AU siblings with early language-related difficulties had similar findings: lower Verbal IQ, poorer spelling, and poorer reading scores, compared to AU siblings without such a history. Parents with a positive history also scored worse on a measure of pragmatic language,the Pragmatic Rating Scale, but not on measures of social-related components of the broader autism phenotype. We propose that cognitive differences in a subset of autism family members are manifestations of the language-related component of the broader autism phenotype, and separate from the social-related component. This is consistent with the hypothesis that there are several genes that may interact to cause autism which segregate independently and have distinguishable manifestations in family members. The hypothesis would be further supported by finding different patterns of genetic loci linked to autism in families where one or both parents has language difficulties.
 ...
PMID:Predictors of cognitive test patterns in autism families. 1057 40

Fibers of the global projection system ramify tremendously and distribute in the diverse region of the brain. Biogenic amines in the global projection system have been shown to facilitate formation and maintenance of synapses in the developing and adult brain. In terms of serotonin 5-HT2A receptor was shown to mediate the function of serotonin. We raised specific antibodies against 5-HT2A receptor protein. Virtually all the neurons in the cerebral cortex expressed 5-HT2A receptor. By using the function of biogenic amines to facilitate synapse formation and maintenance a novel approach can be developed in the neuroscience. That is to perturb biogenic amines, to change synaptic density, and to examine changes in the ability of learning and memory. Removing serotonin and acetylcholine for a week, at the maximum 58% of synapses are decreased in the hippocampus. The animals losing synapses spent a longer latency compared to intact animals in Morris water maze. The level of biogenic amines in the developing brain has been known to decrease tremendously by genetic diseases such as phenylketonuria, Down syndrome and autism as well as environmental factors such as nutrition and stress. In those situations synapses in the brain are suggested to be decreased. Synaptic mechanism for mental retardation and developmental disability by the cascade appears to contribute for understanding pathophysiology and a new therapy.
 ...
PMID:[Mechanisms for formation and maintenance of synapses mediated by biogenic amines: pathogenesis and therapy of mental retardation and developmental disabilities by genetic and epigenetic factors]. 1057 64

We compared sleep parameters in mentally retarded infantile autism (MRIA) and mentally retarded Down's syndrome (MRDS) by means of polysomnography, evaluating traditional analysis with particular attention to the phasic components in each disorder. Data were compared with those obtained in normal subjects matched for age and sex. Mental age, Intellectual Quotient and the Childhood Autism Rating Scale were performed to obtain an estimation of the neuropsychological deficit. Abnormalities of phasic components of sleep and the presence of REM sleep components into non-REM sleep were observed in both MRIA and MRDS even if in different ways. In fact, MRDS subjects presented a reduction of REM sleep percentage and R index (number of high frequency REMs against number of low frequency REMs) and this was positively correlated to a low IQ. Unlike MRDS subjects, MRIA subjects did not show any parallelism between intellectual abilities and REM sleep deficit. In addition, the presence of undifferentiated sleep in autistic subjects implies a maturational deficit that is still present in adulthood. Finally, a high R index in MRIA was observed. This finding, which is not present in MRDS, could represent an estimation of the disorganized arrival of information caused by a dyscontrol or a reduction of inhibitor pathway. With reference to sleep mechanisms, our results suggest that the cognitive deficit in MRIA may differ from that of MRDS subjects. A maturational deficit of CNS with a dysfunction of brainstem monoaminergic neurons could represent the underlying mechanism.
 ...
PMID:Sleep abnormalities in mentally retarded autistic subjects: Down's syndrome with mental retardation and normal subjects. 1059 57


<< Previous 1 2 3 4 5 6 7 8 9 10 Next >>