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Publications

Current H2 Research

  • HNRNPH2-Related Neurodevelopmental Disorder (H2/Bain Syndrome) is an extremely rare genetic condition, with research still in early stages.

  • Most scientific knowledge comes from small case studies and family-reported data, rather than large clinical trials.

  • Researchers study:

    • How changes in the HNRNPH2 gene affect brain development

    • Why symptoms vary so widely between individuals

    • Which supports and therapies are most helpful over time

  • Families often participate by:

    • Sharing medical and developmental histories

    • Contributing survey data or natural-history information

    • Connecting through advocacy and research networks

  • Because the condition is rare, every family contribution meaningfully improves understanding and helps guide future studies.

Why This Matters 

  • H2 was only recently identified, so the medical literature is still developing.

  • Each published case adds critical information about:

    • Developmental trajectories

    • Common and less common medical features

    • Response to therapies and interventions

  • Because there are so few documented individuals worldwide:

    • No single study captures the full picture

    • Progress depends on compiling insights across many reports

  • This growing body of literature helps:

    • Families understand what may lie ahead

    • Clinicians recognize and diagnose the condition earlier

    • Researchers identify unanswered questions and priorities

  • Tracking how knowledge evolves over time highlights:

    • What is well understood

    • What remains uncertain

    • Where future research could most improve quality of life

Research Timeline

  • 2016​

    • Madhok, S., & Bain, J. (2022). HNRNPH2-Related Neurodevelopmental Disorder. In M. P. Adam (Eds.) et. al., GeneReviews®. University of Washington, Seattle.​​​

  • 2019

  • 2020

    • ​Ton, Goldman, S., Zhang, H., Salazar, R., Beenders, S., Cornett, K. M., Bain, J. M., Montes, J., & Zanotto, D. (2020). Validation of Insole-based Gait Analysis System in Young Children with a Neurodevelopmental Disorder and Autism Traits. 2020 8th IEEE RAS/EMBS International Conference for Biomedical Robotics and Biomechatronics (BioRob). https://doi.org/10.1109/biorob49111.2020.9224273

    • ​Rome-Martin, D., Thornburg, O., & Bain, J. (2020). Evaluating the Use of OT Assessments in Individuals With the Ultra-Rare Disease HNRNPH2 Gene Variant. The American Journal of Occupational Therapy, 74(4_Supplement_1), 7411500032p1-7411500032p1. https://doi.org/10.5014/ajot.2020.74s1-po4208

    • Salazar, R., Beenders, S., Thornburg, O., LaMarca, N., & Bain, J. (2020). The Pediatric Evaluation of Disability Inventory Computer Adaptive Test in Individuals with HNRNPH2-Related Disorders (4177). Neurology, 94(15_supplement). https://doi.org/10.1212/wnl.94.15_supplement.4177​

  • 2021

    • ​Bain, J. M., Thornburg, O., Pan, C., Donnielle Rome-Martin, Boyle, L., Fan, X., Orrin Devinsky, Frye, R., Hamp, S., Keator, C. G., LaMarca, N. M., Maddocks, A. B. R., Madruga-Garrido, M., Niederhoffer, K. Y., Novara, F., Peron, A., Salvo, E. P.-D., Salazar, R., Skinner, S. A., & Soares, G. (2021). Detailed Clinical and Psychological Phenotype of the X-linked HNRNPH2-Related Neurodevelopmental Disorder. Neurology Genetics, 7(1). https://doi.org/10.1212/nxg.0000000000000551

  • 2022

  • 2025

    • ​Rodan, L. H., Stoler, J., Chen, E., Geleske, T., Vergano, S., Holm, I. A., Jones, K., Kalish, J., Monteil, D. C., Pritchard, A. B., Rasmussen, S. A., Russell, B., Santoro, S. L., Trapane, P., & Weaver, K. N. (2025). Genetic Evaluation of the Child With Intellectual Disability or Global Developmental Delay: Clinical Report. Pediatrics. https://doi.org/10.1542/peds.2025-072219

Bain Brain Lab

180 Fort Washington Avenue, 5th Floor New York, NY 10032 

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Bain Brain Lab — Created by Jennifer Bain (2026)

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