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Caregiver-reported quality of life among individuals with neurodevelopmental genetic conditions
Journal article   Peer reviewed

Caregiver-reported quality of life among individuals with neurodevelopmental genetic conditions

Rachel K Schuck, Emma K Baker, Kaitlynn M P Baiden, Kitty-Rose Foley, Antonio Y Hardan, Thomas W Frazier and Mirko Uljarević
Developmental medicine and child neurology, Vol.First online
02/08/2026
DOI: https://doi.org/10.1111/dmcn.70434
PMID: 42543733
Appears in  Recent Faculty of Health Publications

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Abstract

Aim: To investigate correlates of quality of life (QoL) in individuals with neurodevelopmental genetic conditions (NGCs), such as PTEN hamartoma tumor syndrome (PHTS), SYNGAP1-related conditions, and Malan syndrome, and their families. Method: Caregivers of 201 individuals with NGCs (50.2% male; 43.3% with PHTS) filled out a battery of online questionnaires. Two five-step hierarchical regressions were used to identify key correlates of both caregiver-reported family QoL (FQoL) and health-related QoL (HRQoL). Results: In the final step of the regression model predicting FQoL, greater social communication and interaction, higher speech level, fewer challenging behaviors, and greater executive functioning skills were related to higher FQoL. With regard to HRQoL, male sex, decreased mood dysregulation, and fewer sleep problems (more specifically, less restless sleep and difficulty waking) were related to greater HRQoL. Interpretation: These findings highlight the complex interplay of factors affecting distinct aspects of QoL, underscoring the need for interventions that go beyond focusing on features of autism by incorporating a focus on broader clinical, developmental, and cognitive profiles.

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