Complex translocation disrupting TCF4 and altering TCF4 isoform expression segregates as mild autosomal dominant intellectual disability.

Background: Mutations of TCF4, which encodes a basic helix-loop-helix transcription factor, cause Pitt-Hopkins syndrome (PTHS) via multiple genetic mechanisms. TCF4 is a complex locus expressing multiple transcripts by alternative splicing and use of multiple promoters. To address the relationship between mutation of these transcripts and phenotype, we report a three-generation family segregating mild intellectual disability with a chromosomal translocation disrupting TCF4.

Comparison of the ASQ and PEDS in screening for developmental delay in children presenting for primary care.

Objectives: This study investigated the sensitivity and specificity of two brief, parent-completed developmental screening measures-the Ages and Stages Questionnaire (ASQ) and the Parents' Evaluation of Developmental Status (PEDS)-in children presenting to their primary care providers.

Method: A sample of 334 children aged 12 to 60 months was recruited. Parents completed the PEDS and the ASQ in their home or the primary care clinic of one of the investigators.

Nipissing District Developmental Screen: patterns of use by physicians in Ontario.

Objective: To determine if providing the Nipissing District Developmental Screen (NDDS) free of charge is associated with increased use of this measure and to investigate regional variations in the use of the NDDS in Ontario.

Design: Retrospective analysis of purchasing data from before the NDDS was available at no cost compared with analysis of the results of a brief questionnaire completed by those downloading the NDDS for free.

Setting: Ontario.

Identification of cognitive impairment and mental illness in elderly homeless men: Before and after access to primary health care.

Objective: To describe the occurrence of mental health problems and cognitive impairment in a group of elderly homeless men and to demonstrate how clinical examination and screening tests used in a shelter setting might be helpful in identifying mental illness and cognitive impairment.

Design: Cross-sectional study including face-to-face interviews and review of medical records.

Setting: A community-based homeless shelter in an urban metropolitan centre (Toronto, Ont).