Attention challenges in Kabuki syndrome.

ABSTRACT:

Background

Understanding the specific neurobehavioural profile of rare genetic diseases enables clinicians to provide the best possible care for patients and families, including prognostic and treatment advisement. Previous studies suggested that a subset of individuals with Kabuki syndrome (KS), a genetic disorder causing intellectual disability and other neurodevelopmental phenotypes, have attentional deficits. However, these studies looked at relatively small numbers of molecularly confirmed cases and often used retrospective clinical data instead of standardised assessments.

Methods

Fifty-five individuals or caregivers of individuals with molecularly confirmed KS completed assessments to investigate behaviour and adaptive function. Additionally, information was collected

SUBMITTER: Kalinousky AJ 

PROVIDER: S-EPMC12582340 | biostudies-literature | 2024 Feb

REPOSITORIES: biostudies-literature