Log In

Forgot Password?

OR

Not a member? Continue as a nonmember.

Become a Member

By becoming a member of the AAN, you can receive exclusive information to help you at every stage of your career. Benefits include:

Join Now See All Benefits

Loading... please wait

Abstract Details

Top Caregiver Concerns for Individuals with the Ultra-Rare X-linked HNRNPH2-Related Neurodevelopmental Disorder
Child Neurology and Developmental Neurology
P10 - Poster Session 10 (8:00 AM-9:00 AM)
4-012

Rare NDDs are individually rare yet collectively common and are associated with shared challenges for patients and their caregivers. Pathogenic variants in the X-linked gene, HNRNPH2, share a NDD characterized by developmental delay, language impairment, motor problems, autism, and seizures.

This study aimed to identify the foremost concerns for caregivers of children with HNRNPH2-related neurodevelopmental disorder (NDD).

Eighty-five individuals with confirmed pathogenic HNRNPH2 variants were enrolled in an annual natural history study of HNRNPH2-related NDD. The caregivers of 41 of these individuals with HNRNPH2-related NDD, aged 12 months old to 53 years old (median=10.2), both females (n=34) and males (n=7), were included. For each participant, one caregiver completed a survey ranking their top concerns from most concerning to least concerning. Responses were compared between the caregivers of adults (n=14) and children (n=27).

We expanded the behavioral and neuropsychiatric spectrum of HNRNPH2-related NDD in the largest cohort described to date. Communication difficulties, behavioral issues, and independence skills were the top caregiver concerns. While caregivers of adults with HNRNPH2-related NDD reported more concerns for communication difficulties, independence skills, and musculoskeletal issues, caregivers of children were most concerned with communication difficulties, seizures, and behavioral issues. Results did not differ substantially for children under 18 years old between age ranges.

Parents frequently identified communication challenges as their top concern in caring for their child with HNRNPH2-related disorders. This represents an area, which may benefit from targeted intervention to improve the quality of life for both individuals with pathogenic HNRNPH2 variants and their caregivers. As individuals transition into adulthood, additional supports to address independence and musculoskeletal issues could be helpful in reducing caregiver burden.
Authors/Disclosures
Juliana Nitis
PRESENTER
Ms. Nitis has nothing to disclose.
Jennifer M. Bain, MD, PhD (Columbia Doctors) Dr. Bain has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Guidepoint Consulting. Dr. Bain has received personal compensation in the range of $0-$499 for serving as a Consultant for M3 Consulting. Dr. Bain has received personal compensation in the range of $5,000-$9,999 for serving as a Consultant for Legal Company . Dr. Bain has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Grin Therapeutics. Dr. Bain has received personal compensation in the range of $0-$499 for serving on a Speakers Bureau for New York University. Dr. Bain has received personal compensation in the range of $0-$499 for serving on a Speakers Bureau for SUNY Donwstate. The institution of Dr. Bain has received research support from Yellow Brick Road Project. The institution of Dr. Bain has received research support from To Cure a Rose Foundation.