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Genetics and the investigation of developmental delay/intellectual disability
  1. Myriam Srour,
  2. Michael Shevell
  1. Division of Pediatric Neurology, Montreal Children's Hospital-McGill University Health Centre, Montreal, Quebec, Canada
  1. Correspondence to Dr Michael Shevell, Room C-414, Montreal Children's Hospital, 2300 Tupper, Montreal, Quebec, Canada H3H 1P3; michael.shevell{at}


Global developmental delay and intellectual disabilities are common reasons for diagnostic assessment by paediatricians. There are a multiplicity of possible causes many of which have genetic, management and treatment implications for the child and family. Genetic causes are estimated to be responsible for approximately a quarter to one-half of identified cases. The multiplicity of individually rare genetic causes challenges the practitioner with respect to the selection of diagnostic tests and accurate diagnosis. To assist the practitioner practice guidelines have been formulated and these are reviewed and summarised in this particular article.

  • developmental delay
  • intellectual disability
  • evaluation
  • genetics

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