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)

We report on a case of a 6-year-old female with partial trisomy 8p(21-23) associated with autism, mild dysmorphic features, and moderate learning disability. Although mental retardation is a common finding in patients with mosaic trisomy 8 or partial trisomy of various regions of chromosome 8, only two cases associated with autism have been reported so far. Also, in our case clinical manifestations were mild compared to other patients with duplication of the same region of chromosome 8. Although there has been no strong evidence for linkage on chromosome 8 in any of the genome-wide linkage studies so far, the possibility that this segment includes genes involved in the etiology of autism should be further explored.
J Autism Dev Disord 2006 Jul
PMID:A case of partial trisomy of chromosome 8p associated with autism. 1660 35

We report here on a male diagnosed with tuberous sclerosis at 6 months of age. The child was treated with vigabatrin at age 6 months after an abnormal electroencephalogram but before onset of seizures. Vigabatrin was discontinued at age 13 months to avoid possible visual field defects. At 21 months, the child developed partial seizures with secondary generalization and infantile spasms. Standardized developmental assessments were performed at 12, 18, 24, 30, and 36 months of age. Cognitive and social development were normal until age 21 months and the onset of seizures. When assessed at 24 months, the child met criteria for autism and learning disability. This case indicates that the onset of epilepsy during an early stage in brain development can be associated with autistic regression and persistent developmental disorder. The case suggests the need to consider if possible visual field defects with vigabatrin outweigh the potentially deleterious effects of uncontrolled seizures.
 ...
PMID:Autistic regression associated with seizure onset in an infant with tuberous sclerosis. 1742 12

The objectives of this study were to provide a national profile of children with autism, to describe the impact of autism on school functioning, and to describe the utilization of services among children with autism. We performed a cross-sectional descriptive analysis of 9583 children (grades K-8) from the 2001 National Household Education Survey Before and After School Survey. We used parent-reported information to determine the prevalence of autism, and children with autism were compared to children without autism on sociodemographic measures and several measures of school functioning and utilization of services. The prevalence of autism in this sample was 66 per 10,000. Children with autism were proportionately represented in all communities and all regions of the country. While children with autism were equally likely to attend public schools compared to children without autism, they were significantly more likely to have learning difficulties and to carry multiple diagnoses, including attention deficit disorder and learning disability. Most of these children received services for their disability through the school district. In conclusion, data from this survey yielded a prevalence estimate of autism similar to other recent studies. Children with autism have performance and behavior problems that persist despite the availability of services to the majority of children. The important needs of these children warrant further attention.
 ...
PMID:Characteristics of school-age children with autism. 1704 Dec 73

There is some consensus in the literature regarding the cognitive profile of people with Asperger syndrome (AS). Findings to date suggest that a proportion of people with AS have higher verbal than performance IQ, a non-verbal learning disability (NVLD) and impairments in some aspects of executive function (EF). However, there are few published studies on adults with AS and many have compared the AS group to an autistic control group alone. We compared cognitive functioning in 27 AS adults without a history of language delay and 20 normal controls who did not differ significantly in age, gender and IQ. People with AS had significant impairments on a test of visual memory and on EF tasks measuring flexibility and generativity, but not inhibition. There was no significant difference between verbal and performance IQ. Our results suggest that impairments on tests requiring flexibility of thought and generation occur at all ages and across a range of autistic disorders including AS.
Autism 2006 Nov
PMID:Neuropsychological functioning in adults with Asperger syndrome. 1708 72

As part of a multidisciplinary study, the rate of autism spectrum disorder (ASD), learning disability (LD), and brain abnormalities was examined in 20 participants (12 males, 8 females; age range 8mo-17y, mean age 8y 1mo) diagnosed as falling within the oculoauriculovertebral spectrum (OAV). A neuropsychiatric examination was performed, including standardized autism diagnostic interviews. Two individuals met diagnostic criteria for autism, one for autistic-like condition, and five for autistic traits. Four patients had mild LD, three severe LD, two profound LD, and two borderline intellectual functioning. Neuroimaging indicated cerebral abnormalities in more than half of the patients. Abnormalities of white/grey matter were found in more than half of examined individuals; enlargement of ventricles in more than a third. Results indicate that at least a subgroup of ASD may be associated with errors in early embryonic brain development. Awareness of the coexistence of OAV/ASD is important in habilitation care of individuals with OAV.
 ...
PMID:Autism spectrum disorder and underlying brain mechanism in the oculoauriculovertebral spectrum. 1737 39

Although several reports have described the co-occurrence of autism in subjects with chromosome 22 abnormalities including trisomy 22, translocation 20/22, 22q11.2 deletion, ring chromosome 22, and 22q13.3 deletion, there is no report with 22q11.2 duplication. We report a 9-year-old girl, referred to our department for her behavioural problems and language delay. She was diagnosed with autistic disorder according to DSM-IV criteria. Because of her dysmorphic characteristics comprising narrow face, narrow forehead, mandibular prognathism, synophrys, and operated cleft palate and cardiac problems, she had gone under cytogenetic analysis. Although she was ascertained as suspected velocardiofacial syndrome (VCFS), the duplication of 22q11.2 was detected by interphase fluorescence in situ hybridization. Previous reports on the psychiatric aspects of 22q11.2 duplication have shown the existence of hyperactivity, learning disability, speech problems, and aggressive behaviours but not autism. Moreover, the lack of reports of co-occurrence of autism and 22q11.2 duplication may be related to paucity as a result of technical problems.
 ...
PMID:Autistic disorder and 22q11.2 duplication. 1745 6

The purpose of the present study was to examine possible differences between high-functioning males and females with autism spectrum disorder (ASD) regarding the core symptoms of autism and coexisting psychopathology. A total of 23 females and 23 males matched for age, IQ, and ASD diagnoses were recruited(mean age 11y 9mo [SD 4y 5mo], range 5y-20y 2mo) with an IQ above the range of learning disability (mean IQ 88.8 [SD 18.5], range 70-128). They were compared using the Autism Diagnostic Interview-Revised, the Autism Diagnostic Observation Schedule, and the Child Behavior Checklist/4-18. We did not identify striking differences between males and females for the triad of autism core dysfunctions (deficits in reciprocal social interaction, communication, and repetitive, stereotyped behaviours) as assessed by expert ratings. However, with regard to several domains of coexisting psychopathology, parent reports revealed significantly more symptoms in females than males, particularly social problems (t=4.47, p<0.01, d=1.20), attention problems (t=3.39, p<0.01, d=0.80), and thought problems (t=3.24, p<0.01, d=0.84). These results are discussed with possible interpreting bias by parents who may expect more socially desired behaviour from daughters than from sons. The severity of social and attention problems in high-functioning females with autism emphasizes the need for thorough assessments and interventions in these domains. Future research should compare the cognitive phenotype of autism between sexes.
 ...
PMID:Autism spectrum disorders: sex differences in autistic behaviour domains and coexisting psychopathology. 1748 10

The objective of this study was to examine injury risk in children with autism, ADD/ADHD, learning disability, psychopathology, or other medical conditions. Children aged 3-5 years who participated in the National Survey of Children's Health were included. Six study groups were analyzed in this report: autism (n=82), ADD/ADHD (n=191), learning disability (n=307), psychopathology (n=210), other medical conditions (n=1802), and unaffected controls (n=13,398). The weighted prevalence of injury in each group was 24.2% (autism), 26.5% (ADD/ADHD), 9.3% (learning disability), 20.5% (psychopathology), 14.6% (other medical conditions), and 11.9% (unaffected controls). Compared to unaffected controls, the risk of injury was 2.15 (95% confidence interval (CI): 1.00-4.60), 2.74 (95% CI: 1.63-4.59), 2.06 (95% CI: 1.24-3.42), and 1.26 (95% CI: 1.00-1.58) in children with autism, ADD/ADHD, psychopathology, and other medical conditions, respectively, after adjusting for child sex, child age, number of children in the household, child race, and family poverty level. Children with autism, ADD/ADHD, and other psychopathology were about 2-3 times more likely to experience an injury that needs medical attention than unaffected controls. Future studies need to clarify the extent to which injuries in young children with autism, ADD/ADHD, and psychopathology are related to core symptoms, comorbid conditions, associated behaviors, or unintentional injuries due to lack of additional supervision from caregivers.
 ...
PMID:Increased risk of injury in children with developmental disabilities. 1758 39

Executive dysfunction is thought to be primary to autism. We examined differences in executive function between 20 adults with autism and learning disability and 23 individuals with learning disabilities outside the autistic spectrum. All participants were matched for chronological age and full-scale IQ, and were given a battery of tasks assessing fluency, planning, set-shifting, inhibition and working memory. Analyses of the individual tasks revealed very few significant differences between the two groups. However, analyses of composite scores derived for each executive domain revealed that the group with autism showed impaired performance on the working memory and planning tests. Together, these two measures were sufficient to classify participants into their diagnostic groups significantly better than would be expected by chance (75% of the autism group; 65% of the control group). Executive impairments were neither universal nor exclusive to the autism group, and we suggest that an alternative cognitive theory may better explain the cognitive profile we found.
Autism 2008 Mar
PMID:Profiling executive dysfunction in adults with autism and comorbid learning disability. 1830 63

A systematic, prospective observer-rated study was carried out to determine the prevalence of late luteal phase dysphoric disorder (premenstrual syndrome) in women with autism. A group of women with autism and learning disability (n = 26) was compared with a group of women with a non-autism learning disability (n = 36) matched for age, in-patient status, intelligence, marital status, parity, behavioural problems and ethnicity. Observers rated DSM-IV symptoms of late luteal phase dysphoric disorder every day from each subject over three consecutive menstrual cycles. Using a premenstrual increase in DSM-IV symptoms of >or= 30% as evidence of fulfilment of diagnostic criteria, the prevalence of late luteal phase dysphoric disorder was 92% in the autism group compared with 11% in the control group. This difference was highly statistically significant. The principal conclusion from this study is that there is a marked increase in premenstrual syndrome in women with autism compared with matched controls.
 ...
PMID:Prevalence of premenstrual syndrome in autism: a prospective observer-rated study. 1838 Sep 36


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