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Caregivers’ Perceptions of Clinical Symptoms, Disease Management, and Quality of Life Impact in Cases of Cyclin-Dependent Kinase-Like 5 Deficiency Disorder: Cross-Sectional Online Survey

Caregivers’ Perceptions of Clinical Symptoms, Disease Management, and Quality of Life Impact in Cases of Cyclin-Dependent Kinase-Like 5 Deficiency Disorder: Cross-Sectional Online Survey

This highlights the need for an evolving, age-specific multidisciplinary care approach, as supported by previous work by Amin et al [3]. Finally, the age at diagnosis was reported to be higher for older patients, which may be explained by the relatively recent discovery of the disease in 2004 and the growing accessibility of genetic testing [2,14].

Sam Amin, Carol-Anne Partridge, Helen Leonard, Jenny Downs, Helen Allvin, Valentine Ficara, Emilie Pain, Minna A Korolainen

JMIR Form Res 2025;9:e72489