P459: Characterization of caregiver QoL, primary concerns, and challenges in Chopra-Amiel-Gordon syndrome*

Genetics in Medicine Open 2026 Open access

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Authors: Raymond Belanger Deloge, Abigail Sveden, Muhammed Cagri Bayraktutan, Jack Murray, Jada Cameron, Jillian O'Toole, Abigail Donaghue, Celia Tam, Ellen M. Hanson, Maya Chopra
DOI: 10.1016/j.gimo.2026.103951
Cited by: 0

Abstract

Chopra-Amiel-Gordon Syndrome (CAGS; OMIM 619504), a rare neurodevelopmental syndrome caused by pathogenic variants in ANKRD17, is characterized by developmental delay/intellectual disability, particularly affecting speech, and shared facial features. Autism spectrum disorder and attention-deficit/hyperactivity disorder are variably present, as are a range of systemic features. Here, we describe the impact of CAGS on caregiver quality of life (QoL), summarize their primary concerns, and identify the most disruptive challenges.

Fields of Study & Subjects

Family and Disability Support Research Genomics and Rare Diseases Genetics and Neurodevelopmental Disorders

Publication details

Journal / source
Genetics in Medicine Open
Volume
4
Pages
103951–103951
Publication date
1 January 2026
Language
EN