Impact of on-site clinical genetics consultations on diagnostic rate in children and young adults with autism spectrum disorder.
Arnold Munnich, Caroline Demily, Lisa Frugère and 14 others
PMID 31406558WHAT IT FOUND
On-site genetics visits found previously undiagnosed genetic conditions in 71 of 502 children and young adults with autism.
Gene sequencing added diagnoses in 33 of 141 patients without a harmful chromosome change.
Key findings
01On-site genetics consultations identified previously undiagnosed genetic conditions in 71 of 502 children and young adults with autism.
02Gene sequencing found a genetic change judged disease-causing or probably disease-causing in 33 of 141 patients without a disease-causing chromosome change.
03Most diagnosed patients were described as having atypical or syndromic autism with moderate to severe intellectual disability.
STILL TO COME
How it was doneWhat they foundWhat it means for SLPs
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What it does not show
The study was done in day-care hospitals and special schooling institutions. The authors say the most severe cases are selected over time. Only a fraction of patients without a harmful chromosome change received gene sequencing because funding was limited. The full impact of sequencing could not be measured. Variants of uncertain significance were not reported to parents, and the authors say the diagnostic yield may be an under-estimate. The paper did not give individual clinical details or intellectual disability levels for patients with genetic findings. It reports diagnosis, not therapy outcomes. The paper says recognizing a genetic condition had no immediate impact on case management.
Declared interests
The ambulatory program was funded by a multi-annual budget of the Greater Paris Regional Health Agency. The paper also states that public funding restrictions limited sequencing. The supplied text does not include a competing-interest statement.
The easy way to misread this
Do not read the improved diagnostic yield as proof that on-site genetics visits improve autism symptoms, communication, or therapy outcomes. The paper reports genetic diagnoses in a selected group of severe cases in day-care hospitals, and only a fraction of patients without a harmful chromosome change received sequencing.