Sleep, Behavior, and Adaptive Function in KAT6A Syndrome

• DOI: 10.3390/brainsci11080966
• Publication Date: 2021-07-23T08:29:14Z
• Authors: Clay Smith; Jacqueline Harris
• Keywords: CBCL; Child Behavior Checklist; Dysfunctional family; Sleep; Adaptive functioning

KAT6A syndrome is a Mendelian Disorder of the Epigenetic Machinery characterized by intellectual disability and profound expressive language impairment. This study aimed to further characterize behavior sleep in this syndrome. 26 participants between ages 3 35 years with were assessed via parental informant using Adaptive Behavior Assessment System version (ABAS-3), Achenbach Child or Adult Checklist (CBCL/ABCL), Modified Simonds Parraga Sleep Questionnaire (MSPSQ). The ABAS reports conceptual, social, practical domains adaptive function as well general composite score for function. CBCL/ABCL an inventory that measures internalizing, externalizing, DSM-oriented problem domains. MSPSQ mix qualitative quantitative information includes behavioral medical problems. Mean values all ABAS-3 extremely low range. Additionally, was very dysfunctional cohort. Sixty percent respondents reported feeling there problem, 64% take medication sleep, 68% have sought treatment advice sleep. Only 12% these apnea suggesting problems disorder are unrelated sleep-disordered breathing. Interestingly, rates types behaviors among on CBCL/ABCL. No significant differences seen based genotype grouping function, behavior. delineates phenotype emphasizes need supports functioning detailed attention aspects condition.