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Abstract Details

Rett-like phenotypes in HNRNPH2-Related Neurodevelopmental Disorder
Child Neurology and Developmental Neurology
P9 - Poster Session 9 (5:30 PM-6:30 PM)
6-001

Rett syndrome (RTT) is a progressive neurodevelopmental disorder with a prevalence of one in every 10,000 to 15,000 females worldwideNIH.  Classic Rett Syndrome presents in childhood with 4 major features: developmental regression, loss of purposeful hand skills along with hand stereotypies, gait abnormalities, and loss of speech Neul. Atypical RTT is diagnosed when a child shows some but not all the phenotypes of classic RTT, as long as other supporting criteria are met.  Over 95% of classic RTT cases are attributed to pathogenic variants in Methyl-CpG Binding Protein 2 (MECP2) Amir. Our team has identified a common neurodevelopmental phenotype with pathogenic missense variants in HNRNPH2, associated with developmental delay, intellectual disability, hypotonia, seizures, autistic-like features, and Rett-like phenotypes in selected patients. We sought to characterize the Rett-like phenotypes in HNRNPH2-related NDD.

To identify and characterize Rett-like phenotypes in HNRNPH2-related neurodevelopmental disorder (HNRNPH2-related NDD). 

An online survey was developed for the patients’ caregivers using questions focusing on RTT criteria.  We quantified the number of each clinical criteria for each subject and calculated proportions of the frequency of each symptom.

A total of 30 caregivers completed the questionnaire. Three individuals had been previously diagnosed with atypical RTT. 10/30 exhibited loss of spoken language, 1/30 showed loss of purposeful hand skills, 22/30 had gait abnormalities, 21/30 had stereotypic hand movements, and many patients had a wide variety of the supporting criteria, such as bruxism or sleep disturbances.  Based on clinical diagnostic criteria, 13/30 report symptoms supportive for an atypical RTT diagnosis, though none qualified for a classic RTT diagnosis.
Individuals with HNRNPH2-related NDD present with many Rett-like phenotypes including loss of spoken language, gait abnormalities and stereotypic hand movements.  Further characterization of these RTT features in subjects with is warranted through standardized video coding and analysis.
Authors/Disclosures
Joseph Nicho Gonzalez
PRESENTER
Mr. Gonzalez has nothing to disclose.
Olivia Thornburg Olivia Thornburg has nothing to disclose.
Sylvie Goldman, PhD (Columbia University) Dr. Goldman has nothing to disclose.
Melissa T. Carter, Jr., MD (Children's Hospital of Eastern Ontario) Dr. Carter 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.