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)

The ability to extract meaning through the use of syntactic cues, adapted from Naigles' (1990) paradigm, was investigated in Hebrew-speaking children with autism, those with specific language impairment (SLI) and those with typical language development (TLD), in an attempt to shed light on similarities and differences between the two diagnostic categories, both defined by primary language deficits. Thirteen children with autism and 13 with SLI were matched on chronological age, level of language functioning and gender, and 13 children with TLD were matched to the children in the two clinical groups according to language level, as measured by the CELF-P. Children with autism and children with TLD learned novel words using the syntactical cues in the sentences in which they were presented, whereas children with SLI experienced more difficulty, learning only that which would be expected from chance according to the binomial test. Only 4 of the 13 children with SLI (31%) learned the new words, whereas 11 children with autism and 10 children with TLD learned the novel verb using syntactical cues from the sentence frame. The results are analyzed in terms of possible underlying mechanisms in language acquisition. Children with autism seem to rely on relatively intact syntactic abilities, while children with SLI seem to have marked impairment in using this mechanism in acquiring word meaning. Implications for future research and intervention with preschool children with primary language disorders are discussed.
...
PMID:Acquisition of verb meaning through syntactic cues: a comparison of children with autism, children with specific language impairment (SLI) and children with typical language development (TLD). 1754 63

It has been speculated that autism and specific language impairment share common underlying neural substrates because of the overlap in language impairment issues and evidence suggesting parallels in other domains and implying a possible shared genetic risk. Anatomically the two sets of disorders have generally been studied using different methodologies, but when identical methodologies have been used substantial similarities have been noted. Functionally there is a growing body of literature suggesting sensory perception abnormalities that have parallels in both conditions and that may be upstream of language abnormalities. Finding upstream mechanisms that impact language and non-language abnormalities in autism and specific language impairment would impact the orientation taken by translational attempts to use science to design treatments.
...
PMID:Brain abnormalities in language disorders and in autism. 1754 10

Asperger syndrome (AS) is differentiated from high-functioning autism (HFA) largely on a history of "language delay." This study examined "specific language impairment" as a predictor of outcome. Language skills of 19 children with AS and 45 with HFA were assessed at 4-6 years of age (Time 1) and 2 years later (Time 2). Children's symptoms and functional outcome scores were assessed every 2 years (Times 3, 4, and 5) until ages 15-17 years old. Regression analysis revealed that specific language impairment at time 2 more often accounted for the greatest variation in outcome scores in adolescence than the standard diagnosis of AS versus HFA based on history of language delay. Diagnostic implications are discussed.
J Autism Dev Disord 2008 Apr
PMID:Differentiating autism and Asperger syndrome on the basis of language delay or impairment. 1772 97

A link between developmental language disorders and atypical cerebral lateralization has been postulated since the 1920s, but evidence has been indirect and inconsistent. The current study investigated this proposal using functional transcranial Doppler ultrasonography (fTCD), which assesses blood flow through the middle cerebral arteries serving the left and right cerebral hemispheres. A group of young adults with specific language impairment (SLI; n = 11) were recruited along with three comparison groups: (i) adults with a history of childhood SLI, but who did not meet criteria for language impairment in adulthood (SLI-history; n = 9); (ii) adults with an autism spectrum disorder and a comorbid language impairment (ASD; n = 11) and (iii) adults with no history of developmental disorder (typical; n = 11). There was no difference between the chronological age of the four groups, and the SLI and typical groups were individually matched on gender and handedness. During fTCD measurement, participants were asked to silently generate words starting with a given letter and then later required to verbalize these. All of the participants in the SLI-history group and the majority of participants in the ASD (81.8%) and typical (90.9%) groups had greater activation in the left compared to the right middle cerebral arteries, indicating left hemisphere dominance. In contrast, the majority of participants in the SLI groups had language function lateralized to the right hemisphere (54.5%) or dispersed bilaterally (27.3%). These findings suggest that atypical cerebral dominance is not implicated in all cases of poor language development (i.e. ASD and SLI-history groups), but may act as a biological marker of persisting SLI.
...
PMID:Cerebral dominance for language function in adults with specific language impairment or autism. 1895 53

It has been suggested that language impairment in autism is behaviorally, neurobiologically, and etiologically related to specific language impairment (SLI). In this article, the authors review evidence at each level and argue that the vast majority of data does not support the view that language impairment in autism can be explained in terms of comorbid SLI. The authors make recommendations for how this debate might be resolved and suggest a shift in research focus. They recommend that researchers concentrate on those aspects of language impairment that predominate in each disorder rather than on those comparatively small areas of potential overlap.
...
PMID:Language in autism and specific language impairment: where are the links? 1895 62

Twin and family studies have demonstrated that most cognitive traits are moderately to highly heritable. Neurodevelopmental disorders such as dyslexia, autism, and specific language impairment (SLI) also show strong genetic influence. Nevertheless, it has proved difficult for researchers to identify genes that would explain substantial amounts of variance in cognitive traits or disorders. Although this observation may seem paradoxical, it fits with a multifactorial model of how complex human traits are influenced by numerous genes that interact with one another, and with the environment, to produce a specific phenotype. Such a model can also explain why genetic influences on cognition have not vanished in the course of human evolution. Recent linkage and association studies of SLI and dyslexia are reviewed to illustrate these points. The role of nonheritable genetic mutations (sporadic copy number variants) in causing autism is also discussed. Finally, research on phenotypic correlates of allelic variation in the genes ASPM and microcephalin is considered; initial interest in these as genes for brain size or intelligence has been dampened by a failure to find phenotypic differences in people with different versions of these genes. There is a current vogue for investigators to include measures of allelic variants in studies of cognition and cognitive disorders. It is important to be aware that the effect sizes associated with these variants are typically small and hard to detect without extremely large sample sizes.
...
PMID:Genes, cognition, and communication: insights from neurodevelopmental disorders. 1933

Autism spectrum disorder (ASD) and specific language impairment (SLI) are developmental disorders exhibiting language deficits, but it is unclear whether they arise from similar etiologies. Language impairments have been described in family members of children with ASD and SLI, but few studies have quantified them. In this study, we examined IQ, language, and reading abilities of ASD and SLI children and their first-degree relatives to address whether the language difficulties observed in some children with ASD are familial and to better understand the degree of overlap between these disorders and their broader phenotypes. Participants were 52 autistic children, 36 children with SLI, their siblings, and their parents. The ASD group was divided into those with (ALI, n=32) and without (ALN, n=20) language impairment. Relationships between ASD severity and language performance were also examined in the ASD probands. ALI and SLI probands performed similarly on most measures while ALN probands scored higher. ALN and ALI probands' language scores were not related to Autism Diagnostic Interview-Revised and Autism Diagnostic Observation Schedule algorithm scores. SLI relatives scored lowest on all measures, and while scores were not in the impaired range, relatives of ALI children scored lower than relatives of ALN children on some measures, though not those showing highest heritability in SLI. Given that ALI relatives performed better than SLI relatives across the language measures, the hypothesis that ALI and SLI families share similar genetic loading for language is not strongly supported.
Autism Res 2009 Feb
PMID:Language and reading abilities of children with autism spectrum disorders and specific language impairment and their first-degree relatives. 1935 5

Autism and specific language impairment (SLI) are developmental disorders that, although distinct by definition, have in common some features of both language and social behavior. The goal of this study was to further explore the extent to which specific clinical features of autism are seen in SLI. The children with the two disorders, matched for non-verbal IQ, were compared on the Autism Diagnostic Interview-Revised (ADI-R) and the Autism Diagnostic Observation Schedule (ADOS). In the SLI group, 41% met autism or autism spectrum cut-offs for social or communication domains either on the ADI or ADOS or both. No relationship was found between the language deficits exhibited by the children with SLI and their scores on the ADI and ADOS. These findings contribute to evidence that there is some overlap in social and communicative deficits between autism and SLI, supporting the view that autism and SLI share etiologic factors. This continuum of pathology between SLI and autism appears to range from structural language abnormalities as seen in individuals with SLI to individuals with SLI with both structural and social abnormalities to individuals with autism with pragmatic impairment and language abnormalities.
Autism Res 2008 Oct
PMID:Overlap between autism and specific language impairment: comparison of Autism Diagnostic Interview and Autism Diagnostic Observation Schedule scores. 1936 Jun 80

Specific language impairment (SLI) is usually defined as a developmental language disorder which does not result from a hearing loss, autism, neurological and emotional difficulties, severe social deprivation, low non-verbal abilities. Children affected with SLI typically have difficulties with the acquisition of different aspects of language and by definition, their impairment is specific to language and no other skills are affected. However, there has been a growing body of literature to suggest that children with SLI also have non-linguistic deficits, including impaired motor abilities. The aim of the current study is to investigate language and motor abilities of a group of thirty children with SLI (aged between 4 and 7) in comparison to a group of 30 typically developing children matched for chronological age. The results showed that the group of children with SLI had significantly more difficulties on the language and motor assessments compared to the control group. The SLI group also showed delayed onset in the development of all motor skills under investigation in comparison to the typically developing group. More interestingly, the two groups differed with respect to which language abilities were correlated with motor abilities, however Imitation of Complex Movements was the unique skill which reliably predicted expressive vocabulary in both typically developing children and in children with SLI.
...
PMID:Investigation of language and motor skills in Serbian speaking children with specific language impairment and in typically developing children. 2053 58

Performance IQ (PIQ) greater than verbal IQ (VIQ) is often observed in studies of the cognitive abilities of autistic individuals. This characteristic is correlated with social and communication impairments, key parts of the autism diagnosis. We present the first genetic analyses of IQ discrepancy (PIQ-VIQ) as an autism-related phenotype. We performed genome-wide joint linkage and segregation analyses on 287 multiplex families, using a Markov chain Monte Carlo approach. Genetic data included a genome-scan of 387 micro-satellite markers in 210 families augmented with additional markers added in a subset of families. Empirical P values were calculated for five interesting regions. Linkage analysis identified five chromosomal regions with substantial regional evidence of linkage; 10p12 [P = 0.001; genome-wide (gw) P = 0.05], 16q23 (P = .015; gw P = 0.53), 2p21 (P = 0.03, gw P = 0.78), 6q25 (P = 0.047, gw P = 0.91) and 15q23-25 (P = 0.053, gw P = 0.93). The location of the chromosome 10 linkage signal coincides with a region noted in a much earlier genome-scan for autism, and the chromosome 16 signal coincides exactly with a linkage signal for non-word repetition in specific language impairment. This study provides strong evidence for a QTL influencing IQ discrepancy in families with autistic individuals on chromosome 10, and suggestive evidence for a QTL on chromosome 16. The location of the chromosome 16 signal suggests a candidate gene, CDH13, a T-cadherin expressed in the brain, which has been implicated in previous SNP studies of autism and ADHD.
...
PMID:Genome-scan for IQ discrepancy in autism: evidence for loci on chromosomes 10 and 16. 2096 41


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