PT  - JOURNAL ARTICLE
AU  - Myriam Srour
AU  - Michael Shevell
TI  - Genetics and the investigation of developmental delay/intellectual disability
AID  - 10.1136/archdischild-2013-304063
DP  - 2014 Apr 01
TA  - Archives of Disease in Childhood
PG  - 386--389
VI  - 99
IP  - 4
4099  - http://adc.bmj.com/content/99/4/386.short
4100  - http://adc.bmj.com/content/99/4/386.full
SO  - Arch Dis Child2014 Apr 01; 99
AB  - 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.