Parental perspectives of episodic irritability in an ultra-rare genetic disorder associated with NACC1.

ABSTRACT:

Background

A recurrent de novo variant (c.892C>T) in NACC1 causes a neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination (NECFM). An unusual and consistently reported feature is episodic extreme irritability and inconsolability. We now characterize these episodes, their impact on the family, and ascertain treatments that may be effective. Parents of 14 affected individuals provided narratives describing the irritability episodes, including triggers, behavioral and physiological changes, and treatments. Simultaneously, parents of 15 children completed the Non-communicating Children's Pain Checklist-Revised (NCCPC-R), a measure to assess pain in non-verbal children.

Results

The episodes of extreme irritability include a prod

SUBMITTER: Schoch K 

PROVIDER: S-EPMC10476425 | biostudies-literature | 2023 Sep

REPOSITORIES: biostudies-literature