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

Autism was recently associated with a urinary porphyrin pattern indicative of mercury toxicity in a large cohort of French children. The IRB of the Institute for Chronic Illnesses approved the present study. A total of 37 consecutive American patients (> or = 7 years-old) with autism spectrum disorders (ASDs) (Diagnostic and Statistical Manual of Mental Disorders, Fourth Edition-DSM IV), born from 1983-1998, that presented to the Genetic Centers of America for outpatient genetic evaluations were prospectively examined for urinary prophryin levels (LabCorp, Inc.) from June 2005-June 2006. Imaging and laboratory testing were conducted on each patient to rule-out other causal factors for their ASDs. As controls, age-, sex-, and race-matched neurotypical ASD siblings were examined. An apparent dose-response effect was observed between autism severity and increased urinary coproporphyrins. Patients with non-chelated autism (2.25-fold, 83% had levels > 2 SD above the control mean) and non-chelated ASDs (2-fold, 58% had levels > 2 SD above the control mean), but not patients with non-chelated pervasive developmental delay-not otherwise specified (PDD-NOS) or Asperger's disorder (1.4-fold, 46% had levels > 2 SD above the control mean), had significantly increased median coproporphyrin levels versus controls. A significant increase (1.7-fold) in median coproporphyrin levels was observed among non-chelated ASD patients versus chelated ASD patients. Porphyrins should be routinely clinically measured in ASDs, and potential ASD treatments should consider monitoring porphyrin levels. Additional research should be conducted to evaluate the potential role for mercury exposure in some ASDs.
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PMID:A prospective assessment of porphyrins in autistic disorders: a potential marker for heavy metal exposure. 1700 Apr 70

Duplications of chromosome 15 may be one of the most common single genetic causes of autism spectrum disorders (ASD), aside from fragile X. Most of the cases are associated with maternally derived interstitial duplication involving 15q11-13. This case report describes a female proband with a maternally derived interstitial duplication of proximal 15q. She did not exhibit any symptoms of ASD apart from some developmental delay. By adolescence, she showed mild dysmorphism, a discrepant profile on the Wechsler Intelligence Scale for Children (Verbal IQ = 87; Performance IQ = 65) and a major deficit in visual-spatial abilities affecting fine motor skills, mathematical reasoning, visual memory and some global reading tasks. This is one of the first reports of a child with a maternal duplication who exhibits a visual-spatial deficit without ASD.
J Autism Dev Disord 2007 Sep
PMID:Brief report: visual-spatial deficit in a 16-year-old girl with maternally derived duplication of proximal 15q. 1700 77

Cytogenetic abnormalities in the Prader-Willi/Angelman syndrome (PWS/AS) critical region have been described in individuals with autism. Maternal duplications and linkage disequilibrium in families with autism suggest the existence of a susceptibility locus at 15q11-q13. Here, we describe a 6-year-old girl diagnosed with autism, developmental delay, and delayed expressive and receptive language. The karyotype was designated de novo 47, XX, idic(15)(q13). Fluorescence in situ hybridization (FISH) and molecular analysis with 15q11-q13 markers revealed an additional copy of the region being of maternal origin. Duplication of the 15q11-q13 segment represents the most consistent known chromosomal abnormality reported in association with autism. This present case report reinforces the hypothesis that additional copies of this chromosome segment are causally related to autism.
J Autism Dev Disord 2007 Apr
PMID:Characterization of an autism-associated segmental maternal heterodisomy of the chromosome 15q11-13 region. 1700 79

Research examining autistic symptoms in Angelman syndrome (AS) is limited. The goal of this study was to further characterize the nature of stereotyped behaviors, social interaction deficits, and developmental disturbances in individuals with AS. Parents of 248 individuals between the ages of 3 and 22 completed a survey of autistic symptomatology by mail, the Gilliam Autism Rating Scale. Results confirmed a high degree of developmental delay and limited expressive language skills. In terms of stereotyped behaviors and social interaction, areas of convergence and divergence between AS and behaviors typically associated with autism spectrum disorders are described. The relationship between child characteristics (age, gender, seizure disorder, genetic subtype) and autistic symptomatology are discussed.
J Autism Dev Disord 2007 May
PMID:Parent report of stereotyped behaviors, social interaction, and developmental disturbances in individuals with Angelman syndrome. 1701 25

To determine whether children with autism (CWA) would selectively imitate intentional, as opposed to accidental actions, an experimenter demonstrated either an "intentional" and an "accidental" action or two "intentional" actions on the same toy [Carpenter, Akhtar, & Tomasello (1998a) Infant Behavior and Development, 21, 315-330]. CWA tended to imitate the experimenter exactly. Children with developmental delay and older typically developing children (TD) reproduced only the intentional action as often as they imitated the experimenter exactly. Younger TD mostly produced only the intentional action. It is concluded that, contrary to comparison groups, the CWA did not show an appreciation of the model's intentions. Results are discussed in terms of theories of social cognition.
J Autism Dev Disord 2007 Oct
PMID:Imitation of intentional and accidental actions by children with autism. 1716 Jul 18

A new splice variant of the Rett syndrome gene, MECP2, was recently identified, that includes coding sequence from exon 1, and is the predominant transcript in the central nervous system. This sequence encodes polyalanine and polyglycine stretches within the N-terminal portion of MeCP2, and may confer novel functional properties to the protein. We screened autism, mental retardation (MR), and control populations for sequence variation within this region, and identified variation in approximately 1% of MR cases screened (N = 1,410). No variants were identified in the autism sample (N = 401). Most of these variants occur within a trinucleotide repeat region and result in change in number of alanine or glycine residues within the repeat stretches. We suggest some of these variants may be a relatively frequent cause of non-specific MR or developmental delay.
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PMID:Sequence variants within exon 1 of MECP2 occur in females with mental retardation. 1717 59

Available evidence from the literature suggests that the prevalence of autistic disorder may be on the rise world wide, but no prevalence studies have been carried out till date in the Arabian Gulf region. A representative random sample of 694 three-year-old United Arab Emirates national children was evaluated in a two-stage study in the community. In the first stage, using Autism Screening Questionnaire, 58 per 10,000 children were noted to have autistic features. In the second stage using clinical interview, the weighted prevalence was estimated to be 29 per 10,000 for a DSM-IV diagnosis of pervasive developmental disorder (PDD). However, none of these children had been diagnosed prior to the study. Presence of autistic features was associated with male gender, presence of behavioural problems and a family history of developmental delay. The rate of PDD observed in the UAE is comparable with that reported from western countries. However, the lack of recognition of these disorders suggests the need for a comprehensive screening program, as early diagnosis can open the door for early intervention which in turn may improve the prognosis.
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PMID:Prevalence of pervasive developmental disorders in preschool children in the UAE. 1724 65

We investigated whether children with autistic spectrum disorders (ASD) have a deficit in recognising familiar faces. Children with ASD were given a forced choice familiar face recognition task with three conditions: full faces, inner face parts and outer face parts. Control groups were children with developmental delay (DD) and typically developing (TD) children. Children with ASD and children with DD recognised slightly fewer faces than did TD children, but there was no ASD-specific deficit. All groups displayed the dame pattern of face part superiority: full-face superiority over inner face, and inner face superiority over outer face. Thererfore, the pattern of familiar face recognition by children with ASD was similar to the pattern found in other children.
J Autism Dev Disord 2007 Feb
PMID:Familiar face recognition in children with autism; the differential use of inner and outer face parts. 1737 32

This article tests the hypothesis that individuals with autism poorly encode verbal information to the semantic level of processing, instead paying greater attention to phonological attributes. Participants undertook a novel explicit verbal recall task. Twenty children with autism were compared with 20 matched typically developing children. On each trial, 20 words were presented individually on a computer screen. Half of the items were related through having either a common semantic theme, or a common phonological feature. Following a filler task, the participants were presented with a cue and asked to recall items consistent with the cue. No differences between the autism and comparison groups were found in either the semantic or the phonological condition. A follow-up comparison revealed that the participants with autism showed comparable levels of recall to an additional group of children matched in chronological age. The findings do not support the idea of a developmental delay in semantic encoding in children with autism.
Autism 2007 May
PMID:Evidence against poor semantic encoding in individuals with autism. 1747 77

Cytogenetic imbalances are increasingly being realized as causes of autism. Here, we report a de novo translocation between the short arms of chromosomes 15 and 16 in a female with autism, epilepsy, and global developmental delay. FISH analysis identified a cryptic deletion of approximately 160 kb at the boundary of the first exon and first intron of the 1.7 Mb ataxin-2 binding protein-1 (A2BP1) gene, also called FOX1. Quantitative real time PCR (Q-PCR) analysis verified a deletion of exon 1 in the 5' promoter region of the A2BP1 gene. Reverse transcription PCR (qRT-PCR) showed reduced mRNA expression in the individual's lymphocytes, demonstrating the functional consequence of the deletion. A2BP1 codes for a brain-expressed RNA binding or splicing factor. Because of emerging evidence in the role of RNA processing and gene regulation in pervasive developmental disorders, we performed further screening of A2BP1 in additional individuals with autism from the Autism Genetics Resource Exchange (AGRE) collection. Twenty-seven SNPs were genotyped across A2BP1 in 206 parent-child trios and two regions showed association at P < or = 0.008 level. No additional deletions or clear mutations were identified in 88 probands by re-sequencing of all exons and surrounding intronic regions or quantitative PCR (Q-PCR) of exon 1. Although only nominal association was observed, and no obvious causal mutations were identified, these results suggest that A2BP1 may affect susceptibility or cause autism in a subset of patients. Further investigations in a larger sample may provide additional information regarding the involvement of this gene in the autistic phenotype.
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PMID:Cytogenetic and molecular characterization of A2BP1/FOX1 as a candidate gene for autism. 1750 74


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