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

Previous researchers have reported autistic features in children with fragile X syndrome. We compared 21 children with pervasive developmental disorders (autism group) to 15 with fragile X syndrome on the Childhood Autism Rating Scale and the Reiss Scales for Children's Dual Diagnosis. The 7 children (47%) with fragile X who scored above the Childhood Autism Rating Scale cut-off (fragile X-autism group) were more impaired than the remaining children (fragile X-no autism) on Childhood Autism Rating Scale subscales related to emotion, visual and listening responses, and communication. The autism group's Reiss scores were higher than fragile X-no autism group, but not fragile X-autism group. Although the Childhood Autism Rating Scale identified almost 50% of children with fragile X as having autism, qualitative differences may exist in specific autistic-like behaviors between children with autism and children with fragile X.
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PMID:Behavioral relationship between autism and fragile x syndrome. 1290 7

To gain insight into the specificity of cerebellar vermian abnormalities reported in autism, we conducted a magnetic resonance imaging (MRI) study of boys with either of two conditions associated with autism, Down syndrome and fragile X syndrome, compared with boys with idiopathic autism and controls. The subjects, ranging in age from 3 to 9 years, included 16 boys with Down syndrome + autism and 11 boys with Down syndrome only; 13 boys with fragile X syndrome + autism and 9 boys with fragile X syndrome only; 10 boys with idiopathic autism; and 22 controls. Diagnosis of autism was based on DSM-IV criteria, confirmed primarily by the Autism Diagnostic Interview. T1-weighted midsagittal MRIs were used to measure midline structures. Intracranial area, reflecting brain size, was significantly smaller in subjects with Down syndrome. Therefore, all vermian measures were expressed as ratios to intracranial area. Analysis of covariance (covarying for age and IQ) demonstrated that posterior vermi (lobules VI-VII and VIII-X) were markedly smaller in both Down syndrome groups and those with fragile X syndrome only, whereas only lobules VI-VII were reduced in idiopathic autism. Factorial analyses of variance tested interactions between autism factor and the diagnosis of Down syndrome or fragile X syndrome. The size of lobules VI-VII/intracranial area was dependent on autism status only in fragile X syndrome, with ratios significantly larger in fragile X syndrome with autism with respect to fragile X syndrome only. We conclude that selective posterior vermis hypoplasia is seen not only in idiopathic autism but also in Down syndrome and some individuals with fragile X syndrome. However, reductions in vermian lobules VI and VII appear to be specific to idiopathic autism, whereas increased size of lobules VI and VII is associated with autism in fragile X syndrome. The latter results are consistent with MRI studies showing lobules VI-VII hyperplasia in a subset of subjects with idiopathic autism and cerebral and hippocampal enlargements in fragile X syndrome.
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PMID:Specificity of cerebellar vermian abnormalities in autism: a quantitative magnetic resonance imaging study. 1294 Jun 51

We review the evidence for the frequency of the fragile X syndrome (FXS), other X-linked abnormalities, and other chromosomal disabilities of Turkish pediatric psychiatry outpatients with intellectual disability. Reported clinical features and genetic findings were used in cytogenetic screenings to estimate the prevalence of the fragile X (fra X) and other chromosomal aberrations in 120 patients with mental retardation, language disorders, attention deficit hyperactivity, or developmental delay, in comparison with 30 healthy children. Data on the clinical, intellectual and behavioral findings in 14 fra X positive children (11.7%) is presented. Ten of the 120 patients (8.3%) had enlargement of the heterochromatin region of chromosome 9. Other chromosomal aberrations and autosomal fragile sites (FS) were also observed. There was a statistically significant difference in the autosomal and X-linked FS between the study and control groups (p < 0.05). The tests for the fra X chromosome are likely to be of diagnostic benefit in young children with autism or developmental delay, particularly in speech, and who have large and prominent ears.
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PMID:A cytogenetic study in 120 Turkish children with intellectual disability and characteristics of fragile X syndrome. 1295 Jan 12

The autistic disorder was firstly described by Leo Kanner sixty years ago. This complex developmental disability is characterized by social and communicative impairments and repetitive and stereotyped behaviours and interests. The prevalence of autism in the general population is about 1 in 1,000, with four males affected for one female. In approximately 15% of the cases, autism is associated with known genetic disorders, such as fragile X syndrome, tuberous sclerosis or Rett syndrome. Nevertheless, a recognised medical etiology can only be identified in a minority of cases. A higher recurrence risk in families with autistic subjects (45 times greater than the prevalence in the general population) and higher concordance for autism among monozygotic (60-90%) than dizygotic (0-10%) twins argue for a genetic predisposition to idiopathic autism. The past decade has been marked by an increased interest in the genetic basis of autism, with a series of multiple independent whole genome scans and chromosomal abnormalities studies. These analyses have pointed out several candidate regions on chromosomes 2q, 7q, 6q, 15q and sex chromosomes. These regions possess candidate genes that have been screened for mutations or association with autism. However, a clear involvement of a major susceptibility gene (or genes) in autism remains far from clear. The results from linkage studies and the clear drop in the concordance rates between monozygotic and dizygotic twins suggests that the genetic aetiology of autism is certainly heterogeneous (different genes in different families) and polygenic (more than one affected gene per individual). The almost finished sequence of the human genome and the generation of haplotype maps will shed light on the inter-individual genetic variability and will certainly increase the power and reliability of association studies for complex traits, such as autism.
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PMID:[Genetics of autism: from genome scans to candidate genes]. 1464 79

The Short Sensory Profile was used to assess parental report of sensory reactivity across four groups of young children (n = 102). Groups were autism (n = 26), fragile X syndrome (n = 20), developmental disabilities of mixed etiology (n = 32), and typically developing children (n = 24). Groups were comparable on overall mental age (x = 22 months), and clinical groups were comparable on chronological age (x = 31 months). Significant differences were detected at alpha <.01 for tactile sensitivity [F(3,99) = 10.01], taste/smell sensitivity [F(3,99) = 11.63], underreactive/seeks stimulation [F(3,99) = 4.56], auditory filtering [F(3,99) = 19.67], and low energy/weak muscles [F(3,99) = 14.21]. Both children with fragile X syndrome and children with autism had significantly more sensory symptoms overall than the two comparison groups, and children with autism did not differ significantly from children with fragile X syndrome. Both groups were more impaired than developmentally delayed and typically developing children in tactile sensitivity and auditory filtering. Children with autism were more abnormal in responses to taste and smell than all other groups. Children with fragile X syndrome were more abnormal than all other groups in low energy/weak muscles. Sensory reactivity of children with developmental delays was comparable to mental age-matched typically developing toddlers. Correlational analyses indicated that neither overall developmental level nor IQ was related to abnormal sensory reactivity in children with autism or general developmental disorders. However, abnormal sensory reactivity had a significant relationship with overall adaptive behavior.
J Autism Dev Disord 2003 Dec
PMID:Parent reports of sensory symptoms in toddlers with autism and those with other developmental disorders. 1471 32

Fragile X syndrome (FXS) is the most common single gene (FMR1) disorder affecting cognitive and behavioral function in humans. This syndrome is characterized by a cluster of abnormalities including lower IQ, attention deficits, impairments in adaptive behavior and increased incidence of autism. Here, we show that young males with FXS have profound deficits in prepulse inhibition (PPI), a basic marker of sensorimotor gating that has been extensively studied in rodents. Importantly, the magnitude of the PPI impairments in the fragile X children predicted the severity of their IQ, attention, adaptive behavior and autistic phenotypes. Additionally, these measures were highly correlated with each other, suggesting that a shared mechanism underlies this complex phenotypic cluster. Studies in Fmr1-knockout mice also revealed sensorimotor gating and learning abnormalities. However, PPI and learning were enhanced rather than reduced in the mutants. Therefore, these data show that mutations of the FMR1 gene impact equivalent processes in both humans and mice. However, since these phenotypic changes are opposite in direction, they also suggest that murine compensatory mechanisms following loss of FMR1 function differ from those in humans.
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PMID:Sensorimotor gating abnormalities in young males with fragile X syndrome and Fmr1-knockout mice. 1498 23

Fragile X syndrome is one of the most common causes of mental retardation in males, and patients with fragile X syndrome occasionally develop autism. It is usually caused by an expansion of the trinucleotide repeat in the 5'-untranslated region of the FMR1 gene, but in a small number of patients deletions and point mutations have been identified. We screened all 17 exons of the FMR1 gene for mutations in 90 autistic or mentally retarded children using polymerase chain reaction (PCR)-single strand conformation polymorphism (SSCP) analysis. No mutations were found in 76 male patients. However, one female patient was heterozygous for a normal allele and a mutant allele with an A to C substitution at nucleotide 879 in exon 9. This mutation was not found in 50 controls. Reverse transcription-PCR revealed that a large proportion of the mutant transcripts were spliced aberrantly, causing premature termination of the protein synthesis. Although uncommon, point mutations in the FMR1 gene may be a cause of autism and mental retardation in Japanese patients.
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PMID:Single-strand conformation polymorphism analysis of the FMR1 gene in autistic and mentally retarded children in Japan. 1500 Feb 56

The present study characterizes distinctive and specific features of social behavior impairment, termed social behavior profile (SBP), in young males with fragile X syndrome (FraX). Fourteen males with FraX and autism (FraX+Aut), ages 3-8 years, were compared with either 41 FraX boys without autism (Aut), 7 age-matched males with developmental language delay and autism (DLD+Aut), or with 11 boys with non-selected (for language delay) idiopathic autism (IA), on several standardized instruments assessing social behavior and autistic features (i.e., autism diagnostic interview-revised, ADI-R). We found that FraX+Aut subjects displayed more impairment in overall cognition, problem/aberrant behavior, and adaptive behavior than the rest of the FraX cohort, even when individuals with pervasive developmental disorder (PDD) were included in the latter. Compared to both DLD+Aut and IA, FraX+Aut males were less impaired in ADI-R reciprocal social interaction (RECS) domain. However, boys with FraX+Aut were in general comparable to DLD+Aut subjects in problem/aberrant and adaptive behaviors. Based on the contrast between FraX+Aut and non-autistic FraX and DLD+Aut, we were able to identify measures (e.g., child behavior checklist (CBCL) withdrawn subscale) that better define social interaction impairment in FraX. Comparisons with DLD+Aut and IA led to the conclusion that communication impairment (COMM) and stereotypic behavior contribute relatively more to the diagnosis of autism in FraX+Aut. In agreement with recent studies, our data suggest that FraX+Aut, and more generally SBP, is a distinctive subphenotype among boys with FraX, which may share some pathophysiological mechanisms with IA.
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PMID:Social behavior profile in young males with fragile X syndrome: characteristics and specificity. 1503 68

A population-based survey was conducted among 152,732 Finnish children and adolescents aged under 16 years and living in northern Finland. Diagnoses and associated medical conditions were derived from the hospital and institutional records of this area. One hundred and eighty-seven children with DSM-IV autistic disorder were identified. Associated medical disorders or associated disorders of known or suspected genetic origin were found in 12.3 percent, including tuberous sclerosis, Down syndrome, fragile X syndrome, Klinefelter syndrome, XYY syndrome, chromosome 17 deletion, chromosome 46, XX, dup(8) (p) and mitochondriopathy. Other associated medical disorders identified were epilepsy, hydrocephalus, foetal alcohol syndrome and cerebral palsy. Hearing impairments were found in 8.6 percent and severe impairment of vision in 3.7 percent of the individuals with autistic disorder. Medical disorders seem to have a special impact on the genesis of autistic disorder and need to be thoroughly examined in each child with autistic disorder.
Autism 2004 Mar
PMID:Associated medical disorders and disabilities in children with autistic disorder: a population-based study. 1507 May 47

The psychological well-being of mothers raising a child with a developmental disability varies with the nature of the disability. Most research, however, has been focused on Down syndrome and autism. We added mothers whose adolescent or young adult son or daughter has fragile X syndrome. The sample was comprised of mothers of a child with fragile X syndrome (n = 22), Down syndrome (n = 39), or autism (n = 174). Mothers of individuals with fragile X syndrome displayed lower levels of well-being than those of individuals with Down syndrome, but higher levels than mothers of individuals with autism, although group differences varied somewhat across different dimensions of well-being. The most consistent predictor of maternal outcomes was the adolescent or young adult's behavioral symptoms.
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PMID:Psychological well-being and coping in mothers of youths with autism, Down syndrome, or fragile X syndrome. 1507 18


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