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)

This paper reports on six children who all fulfill the criteria for fetal alcohol syndrome and have a history of maternal alcohol abuse during pregnancy, and who also fulfill the criteria for diagnosis of autism. Their behavior and natural history is compared with eight contrast FAS children, of similar ages and functional levels, who were free of autistic behaviors. The autistic FAS children were all moderately or severely retarded. Autistic behavior has not been commonly associated with prenatal alcohol exposure. Clinicians need to be aware of this potential dual diagnosis so that appropriate educational and treatment resources can be employed.
 ...
PMID:Autism in fetal alcohol syndrome: a report of six cases. 821 37

Our previous reports have pointed out that the Rett syndrome (RS) starts from early infancy with autistic behavior and muscle hypotonia, and we have raised the hypothesis in regard to the pathophysiology that RS can be an early developmental disorder of the monoaminergic and indolamine systems. This paper presents the reanalysis of early motor and behavioral features performed on 16 patients. The most frequent complaint was developmental delay, but 2 cases were presented with autistic behaviors. Development showed delay even from head control. Crawling was particularly difficult. Muscle hypotonia was present in all cases. Early autistic behaviors were seen in high degree and the most frequent was the pervasive lack of social association. Autistic behaviors characterizing older autism were seen in various degrees. These findings reconfirm our previous reports and hypothesis. Furthermore, it can be suggested that the onset may even be in the fetal stage and that lesions of specific neuronal systems occurring in early ontogeny could result in specific abnormality in the higher system which manifest later in development, after these structures reach certain levels of maturation.
 ...
PMID:Clinical features of the early stage of the Rett syndrome. 169 43

Fenfluramine therapy has been reported to improve behavior in infantile autism and has been associated with a decrease in abnormally increased blood serotonin content. The primary central effect has not been proved to be serotonergic. Beta-endorphin is involved in the anorexic effect of fenfluramine and may play a role in autism. Nine children with infantile autism were treated with fenfluramine in double-blind, placebo-crossover design. Transient anorexia was the only adverse effect. Autistic behavior was reported to improve in three patients, but objective psychometric tests were unchanged. Beta-endorphin-like immunoreactivity was determined in lumbar cerebrospinal fluid of patients during and before or after treatment with fenfluramine and then was compared to normal controls. Beta-endorphin was elevated significantly in the baseline autistic group (p less than .005) and was reduced toward control values during fenfluramine treatment. The results are consistent with a role for beta-endorphin in infantile autism and in the mechanism of fenfluramine treatment.
 ...
PMID:Reduction of elevated CSF beta-endorphin by fenfluramine in infantile autism. 297 80

In the context of a longitudinal study, we assessed the relationship between ratings of autistic behavior, FMR1 protein expression (FMRP), and the developmental trajectories of 55 young males with fragile X syndrome. Autistic behavior, as measured by the Childhood Autism Rating Scale, was not related to FMRP expression. However, autistic behavior was a significant predictor of both developmental status and developmental change. Boys with both autistic behavior and fragile X syndrome functioned at significantly lower levels of development and grew at significantly slower rates than those without autistic behavior. FMRP expression accounted for less variance in developmental level than did autistic behavior, and was not significantly related to slope (developmental change over time). No autistic behavior x FMRP interaction was found.
J Autism Dev Disord 2001 Apr
PMID:Autistic behavior, FMR1 protein, and developmental trajectories in young males with fragile X syndrome. 1191 34

Smith-Lemli-Opitz syndrome (SLOS) is an autosomal recessive condition caused by a defect in cholesterol synthesis. Affected children often have malformations and mental retardation. Autistic behaviors also are evident. The purpose of the present study was to determine the prevalence of autism spectrum disorders (ASDs) in children with SLOS. Fourteen children, 3-16 years old, were evaluated using three different methods to document autistic symptoms: (a) parent interview, (b) direct observation, and (c) a behavior checklist. Blood sterols were also measured at regular intervals. Each subject was determined to have Autistic Disorder, Pervasive Developmental Disorder, not otherwise specified (PDD NOS), or no diagnosis on the autism spectrum, based on DSM-IV criteria. Correlations among variables were calculated, and blood sterol levels were compared between diagnostic groups. Approximately three-fourths of the children with SLOS (71-86% depending on the evaluation method) had an ASD, about 50% diagnosed with Autistic Disorder and the rest with PDD NOS. The children's baseline cholesterol, 7-dehydrocholesterol (7-DHC), and 8-dehydrocholesterol (8-DHC) levels, and cholesterol levels following supplementation did not correlate with the presence or severity of autistic symptoms. These results suggest that most children with SLOS have some variant of autism. SLOS appears to have the most consistent relationship with autism of any single gene disorder. Therefore, a link between cholesterol metabolism and autism is suggested. With further study, these findings, together with knowledge of the genetic and biochemical defects in SLOS, will likely provide valuable insights into the causes of autism in general.
 ...
PMID:The near universal presence of autism spectrum disorders in children with Smith-Lemli-Opitz syndrome. 1676 Dec 97

According to the major classification systems it is not possible to diagnose a comorbid autistic disorder in persons with Rett syndrome. However, this is a controversial issue, and given the level of functioning of persons with Rett syndrome, the autistic disorder is expected to be present in a comparable proportion as in people with the same level of functioning. To investigate, parents of 52 females with classical and atypical Rett syndrome (2.4-49.3 years) completed the Developmental Behavior Checklist (DBC), the Diagnostic Interview for Social and Communication Disorders (DISCO) and the Dutch Vineland Screener 0-6 (VS 0-6). All participants had a severe to profound intellectual disability (ID) according to the VS 0-6. Behavior indicated an autistic disorder in 42 (DBC) to 58 percent (DISCO) of the Rett cases. Autistic behavior had decreased in 19 percent such that they no longer met the criteria for autistic disorder. Some participants were suspected of having a comorbid autistic disorder, though not more often than can be expected at their level of functioning. Clinicians should be aware of the possibility of a comorbid autistic disorder as much as they should be in other people with this level of functioning.
Autism 2009 Nov
PMID:Autistic disorder symptoms in Rett syndrome. 1993 64

Caregiver report on the Adaptive Behavior Assessment System-II (ABAS) for 40 high-functioning individuals with Autism Spectrum Disorders (ASD) and 30 typically developing (TD) individuals matched for age, IQ, and sex ratio revealed global adaptive behavior deficits in ASD, with social skills impairments particularly prominent. Within the ASD group, adaptive communication skills were positively related to IQ while global adaptive functioning was negatively associated with autism symptomatology. Autistic behavior ratings related negatively to ABAS scores in the TD but not the ASD group. This investigation demonstrates: the utility of an adaptive functioning checklist for capturing impairments, even in high-functioning individuals with ASD; and that a relationship between social abilities and autism exists independently of intelligence.
J Autism Dev Disord 2010 Apr
PMID:Adaptive behavior ratings correlate with symptomatology and IQ among individuals with high-functioning autism spectrum disorders. 1994 46

Autistic behavior is often accompanied by numerous disturbing symptoms on the part of gastrointestinal system, such as abdominal pain, constipation or diarrhea. These problems are often connected with deregulation of physiological microflora in intestine. The aim of this study was to determine differences in intestinal microflora of autistic and healthy children. Strains of Clostridium spp. and enterococci were isolated more frequently from stool samples of autistic children and rarely lactobacilli. Quantitative differences were observed maliny among staphylococci, Candida spp. and Clostridium perfringens. Monitoring and stabilization of intestinal microflora and knowledge about role of particular strains in etiology of autistic disorders can increase the chances for appropriate therapy.
 ...
PMID:[Intestinal microflora of autistic children]. 2111 16

Eye-tracking studies on exploration of faces and objects in autism provided important knowledge but only in a constraint condition (chin rest, total time looking at screen not reported), without studying potential differences between subjects with autism spectrum disorder (ASD) and controls in spontaneous visual attention toward a screen presenting these stimuli. This study used eye tracking to compare spontaneous visual attention to a screen displaying a face or an object between children with autism and controls in a nonconstraint condition and to investigate the relationship with clinical characteristics in autism group. Time exploring screen was measured during passive viewing of static images of faces or objects. Autistic behaviors were assessed by the CARS and the BSE-R in autism group. In autism group, time exploring face screen and time exploring object screen were lower than in controls and were not correlated with degree of distractibility. There was no interaction between group and type of image on time spent exploring screen. Only time exploring face screen was correlated with autism severity and gaze impairment. Results highlight particularities of spontaneous visual attention toward a screen displaying faces or objects in autism, which should be taken into account in future eye-tracking studies on face exploration.
Autism Res Treat 2013
PMID:Back to basic: do children with autism spontaneously look at screen displaying a face or an object? 2438 99