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Thread: Autism Gene May Play Role in Specific Language Impairment3583 days old

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    Default Autism Gene May Play Role in Specific Language Impairment

    Specific language impairment (SLI), sometimes called childhood dysphasia or developmental language disorder, describes a childhood disorder that is characterized by markedly delayed language development in the absence of any apparent handicapping conditions that would explain the delay. Children with SLI usually begin talking at roughly the same age as other children but progress much slower, having problems with inflection and word forms, such as leaving off endings when forming verb tenses as well as difficulties picking up the meaning of a new word from context or generalizing a new syntactic form. These problems can persist much longer than early childhood, often into the grade school years and beyond, where these children encounter difficulties in reading and writing. Very little is known about the cause or origin of SLI, but research as of 2004 suggested a possible genetic link. British scientists now believe they have identified the gene that may be responsible for SLICNTNAP2which has also been linked to autism.

    The study started with a different gene called FOXP2, which scientists had previously identified mutations in as involved in speech disorder in one family. As researchers screened this gene, they found another gene it interacts withCNTNAP2. Tests on children from 184 families showed those who carried certain variations in the gene had reduced language abilities characteristic of SLI. It has long been suspected that inherited factors play an important role in childhood language disorders, said study lead Dr. Simon Fisher, University of Oxford geneticist and Wellcome Trust researcher. But this is the first time that we have been able to implicate variants of a specific gene in common forms of language impairment.

    While the researchers arent sure exactly how the gene variants interfere with language development, they hypothesize that changes in CNTNAP2 could, in some way, interfere with the production of a type of protein called neurexin, which is important to the fetal development of the nervous system and eventual language ability. Our findings suggest that similar changes in the regulation or function of this gene could be involved in language deficits in both SLI and autism, said Dr. Fisher. This supports the emerging view that autism involves the convergence of a number of distinct problems underpinned by different genetic effects.

    In an editorial accompanying the study, Dr. Karin Stromswold, a professor of psychology and member of the Rutgers University Center for Cognitive Science in New Brunswick, New Jersey said many children with common language impairment also have motor impairment, so the gene could actually be affecting either core language or motor involvement. What skill in language-impaired children is this gene affecting? she asks. There are a lot of reasons you can be language-impaired, excluding hearing loss and mental retardation.

    The researchers are now investigating whether the changes in CNTNAP2 contribute to the natural variation in language abilities in the general population. Genes like CNTNAP2 and FOXP2 are giving us an exciting new molecular perspective on speech and language development, one of the most fascinating but mysterious aspects of being human, said Dr. Fisher. There are likely to be more answers buried in our genome. This work promises to shed light on how networks of genes help to build a language-ready brain.

    The study was published online in the November 5 issue of the New England Journal of Medicine.


    Background: The few studies that have tracked children with developmental language disorder to adulthood have found that these individuals experience considerable difficulties with psychosocial adjustment (for example, academic, vocational and social aptitude). Evidence that some children also develop autistic symptomatology over time has raised suggestions that developmental language disorder may be a high-functioning form of an autism spectrum disorder (ASD). It is not yet clear whether these outcomes vary between individuals with different subtypes of language impairment.

    To compare the adult psychosocial outcomes of children with specific language impairment (SLI), pragmatic language impairment (PLI) and ASD.

    Methods & Procedures: All participants took part in research as children. In total, there were 19 young adults with a childhood history of Specific Language Impairment (M age524;8), seven with PLI (M age522;3), 11 with high functioning ASD (M age521;9) and 12 adults with no history of developmental disorder (Typical; n512; M age521;6). At follow-up, participants and their parents were interviewed to elicit information about psychosocial outcomes.

    Outcomes & Results:
    Participants in the SLI group were most likely to pursue vocational training and work in jobs not requiring a high level of language/literacy ability. The PLI group tended to obtain higher levels of education and work in skilled professions. The ASD participants had lower levels of independence and more difficulty obtaining employment than the PLI and SLI participants. All groups had problems establishing social relationships, but these difficulties were most prominent in the PLI and ASD groups. A small number of participants in each group were found to experience affective disturbances. The PLI and SLI groups showed lower levels of autistic symptomatology than the ASD group.

    Conclusions & Implications: The between-group differences in autistic symptomatology provide further evidence that SLI, PLI, and ASD are related disorders that vary along qualitative dimensions of language structure, language use and circumscribed interests. Childhood diagnosis showed some relation to adult psychosocial outcome. However, within-group variation highlights the importance of evaluating children on a case-by-case basis.


    ^ a nice video on Australian children with specific language impairment.

    For a brief understanding of Specific Language Impairment see here,

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