Assessment, diagnosis, and management of developmental coordination disorder.

Developmental coordination disorder (DCD) is a neurodevelopmental condition that affects 5% to 6% of school-aged children. DCD can significantly impact early development and life-long functioning. Evidence supports promising interventions for DCD, but the disorder continues to be under-recognized and under-diagnosed. Paediatricians play an important role in the identification and management of DCD. This practice point, with accompanying tables, assists and supports paediatricians in diagnosing and managing uncomplicated cases of DCD.

L'évaluation, le diagnostic et la prise en charge du trouble développemental de la coordination.

Le trouble développemental de la coordination est une affection neurodéveloppementale qui touche de 5 % à 6 % des enfants d'âge scolaire. Il peut avoir des effets considérables sur le début du développement et le fonctionnement tout au long de la vie. Les données probantes appuient des interventions prometteuses, mais ce trouble continue d'être sous-estimé et sous-diagnostiqué. Les pédiatres jouent un rôle important dans son diagnostic et sa prise en charge. Le présent point de pratique et les tableaux qui l'accompagnent visent à aider les pédiatres à diagnostiquer et prendre en charge les cas de trouble développemental de la coordination non compliqué.

Screening for autism spectrum disorders with the social communication questionnaire.

The Social Communication Questionnaire (SCQ) is a parent report screening measure for autism spectrum disorders (ASDs) based on the Autism Diagnostic Interview-Revised (ADI-R). To examine its validity in a young sample, the SCQ was given to parents of 151 children at a mean age of 5 years, before assessment in tertiary autism or preschool clinics. Overall sensitivity was .71, the same for both clinics, but specificity was better for the preschool clinic (.62) than for the autism clinic (.53) reflecting fewer false-positives in the former. The "hit rate" was 65% with 28% of the children with autism missed by the SCQ at a cutoff score of 15 (false-negatives) and 38% of the nonautistic misidentified as having an ASD (false-positives). Item validity analysis, contrary to what was previously published, indicated that only 15 or 46% of the items distinguished between children with and without ASD in this much younger sample. False-negatives were somewhat higher functioning. The SCQ would seem to be a useful tool for identifying young children in need of further assessment and assisting in routing them to the appropriate clinic, especially if used in conjunction with a screening by a community professional. There remain questions about the "best" cutoff score to use and whether a shorter version, based on the items that distinguished autistic from nonautistic, would be more reliable and valid with younger children. Furthermore, it may be that an adjusted score is required when parents omit items or with nonverbal children who cannot be scored on some of the items.

Association of GTF2i in the Williams-Beuren syndrome critical region with autism spectrum disorders.

Duplications of 7q11.23, deleted in Williams-Beuren Syndrome, have been implicated in autism spectrum disorders (ASDs). A 1.5 Mb duplication was identified in one girl with severe expressive language deficits and anxiety among 1,142 ASD individuals screened for this duplication. Family-based association studies of Tag-SNPs in three genes (STX1A , CYLN2 and GTF2i) in two multiplex autism family cohorts revealed strong association of two GTF2i SNPs and their haplotype in Cohort 1 and the combined families. The risk alleles and haplotype were associated with severe problems in social interaction and excessive repetitive behaviors. Our findings suggest the GTF2i gene is important in the etiology of autism in individuals with this duplication and in non-duplication cases with severe social interaction problems and repetitive behaviors.