Beyond chromosome analysis: Additional genetic testing practice in a Down syndrome clinic.

Down syndrome (DS) and other genetic conditions have been reported to co-occur in the same person. This study sought to examine the genetic evaluation beyond chromosome analysis of individuals with DS at one DS specialty clinic. Retrospective chart review of genetic testing performed beyond chromosome analysis, the indication for the genetic testing, and the result of the genetic testing from the electronic health record was performed.

Assessing co-occurring mental health conditions in a multidisciplinary Down syndrome clinic and the role of family history.

Compared to the general population, individuals with Down syndrome (DS) are at a significantly increased risk to develop mental health conditions. This study sought to examine individuals with DS and co-existing mental health comorbidities at one DS specialty clinic. Retrospective chart review of medical records including demographics, genetic testing history, personal and familial mental health history, referrals for mental health indications, and recommendations was performed.