Bain, J. M., Ardalan, A., & Goldman, S. (2021a). Deliberate paradigm shift in research in rare neurodevelopmental disorders. Orphanet Journal of Rare Diseases, 16(1), 263. https://doi.org/10.1186/s13023-021-01885-3

Article  PubMed  PubMed Central  Google Scholar 

Bain, J. M., Cho, M. T., Telegrafi, A., Wilson, A., Brooks, S., Botti, C., Gowans, G., Autullo, L. A., Krishnamurthy, V., Willing, M. C., Toler, T. L., Ben-Zev, B., Elpeleg, O., Shen, Y., Retterer, K., Monaghan, K. G., & Chung, W. K. (2016). Variants in HNRNPH2 on the X Chromosome are associated with a neurodevelopmental disorder in females. American Journal of Human Genetics, 99(3), 728–734. https://doi.org/10.1016/j.ajhg.2016.06.028

Article  PubMed  PubMed Central  Google Scholar 

Bain, J. M., Snyder, L. G., Helbig, K. L., Cooper, D. D., Chung, W. K., & Goodspeed, K. (2022). Consistency of parent-report SLC6A1 data in simons searchlight with provider-based publications. Journal of Neurodevelopmental Disorders, 14(1), 40. https://doi.org/10.1186/s11689-022-09449-7

Article  PubMed  PubMed Central  Google Scholar 

Bain, J. M., Thornburg, O., Pan, C., Rome-Martin, D., Boyle, L., Fan, X., Devinsky, O., Frye, R., Hamp, S., Keator, C. G., LaMarca, N. M., Maddocks, A. B. R., Madruga-Garrido, M., Niederhoffer, K. Y., Novara, F., Peron, A., Poole-Di Salvo, E., Salazar, R., Skinner, S. A., ... Chung, W. K. (2021b). Detailed clinical and psychological phenotype of the X-linked HNRNPH2-related neurodevelopmental disorder. Neurology Genetics, 7(1), e551. https://doi.org/10.1212/nxg.0000000000000551

Berg, A. T., Palac, H., Wilkening, G., Zelko, F., & Schust Meyer, L. (2021). SCN2A-developmental and epileptic encephalopathies: challenges to trial-readiness for non-seizure outcomes. Epilepsia, 62(1), 258–268. https://doi.org/10.1111/epi.16750

Article  PubMed  Google Scholar 

Burgess, A., Boyd, R. N., Chatfield, M. D., Ziviani, J., & Sakzewski, L. (2020). Self-care performance in children with cerebral palsy: A longitudinal study. Developmental Medicine & Child Neurology, 62(9), 1061–1067. https://doi.org/10.1111/dmcn.14561

Article  Google Scholar 

Burgess, A., Reedman, S., Chatfield, M. D., Ware, R. S., Sakzewski, L., & Boyd, R. N. (2022a). Development of gross motor capacity and mobility performance in children with cerebral palsy: A longitudinal study. Developmental Medicine & Child Neurology, 64(5), 578–585. https://doi.org/10.1111/dmcn.15112

Article  Google Scholar 

Burgess, A., Sakzewski, L., Whittingham, K., Wotherspoon, J., Chatfield, M. D., Ware, R. S., & Boyd, R. N. (2022b). Development of social functioning in children with cerebral palsy: A longitudinal study. Developmental Medicine & Child Neurology, n/a(n/a). https://doi.org/10.1111/dmcn.15439

Coster, W. J., Kramer, J. M., Tian, F., Dooley, M., Liljenquist, K., Kao, Y. C., & Ni, P. (2016). Evaluating the appropriateness of a new computer-administered measure of adaptive function for children and youth with autism spectrum disorders. Autism, 20(1), 14–25. https://doi.org/10.1177/1362361314564473

Article  PubMed  Google Scholar 

Dumas, H. M., Fragala-Pinkham, M. A., Haley, S. M., Ni, P., Coster, W., Kramer, J. M., Kao, Y.-C., Moed, R., & Ludlow, L. H. (2012). Computer adaptive test performance in children with and without disabilities: prospective field study of the PEDI-CAT. Disability and Rehabilitation, 34(5), 393–401. https://doi.org/10.3109/09638288.2011.607217

Article  PubMed  Google Scholar 

Dumas, H. M., Fragala-Pinkham, M. A., Rosen, E. L., & Ni, P. (2021). A content validity evaluation of the PEDI-CAT Speedy Mobility domain. Physiotherapy Theory and Practice, 37(4), 517–526. https://doi.org/10.1080/09593985.2019.1633716

Article  PubMed  Google Scholar 

Dumas, H. M., Fragala-Pinkham, M. A., Rosen, E. L., & O’Brien, J. E. (2017). Construct validity of the pediatric evaluation of disability inventory computer adaptive test (PEDI-CAT) in children with medical complexity. Disability and Rehabilitation, 39(23), 2446–2451. https://doi.org/10.1080/09638288.2016.1226406

Article  PubMed  Google Scholar 

Duong, T. T. H., 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. In: 2020 8th IEEE RAS/EMBS International Conference for Biomedical Robotics and Biomechatronics (BioRob)

Farmer, C. A., Kaat, A. J., Thurm, A., Anselm, I., Akshoomoff, N., Bennett, A., Berry, L., Bruchey, A., Barshop, B. A., Berry-Kravis, E., Bianconi, S., Cecil, K. M., Davis, R. J., Ficicioglu, C., Porter, F. D., Wainer, A., Goin-Kochel, R. P., Leonczyk, C., Guthrie, W., Miller, J. S. (2020). Person ability scores as an alternative to norm-referenced scores as outcome measures in studies of neurodevelopmental disorders. American Journal on Intellectual and Developmental Disabilities, 125(6), 475–480. https://doi.org/10.1352/1944-7558-125.6.475

Garrido, D., Petrova, D., Watson, L. R., Garcia-Retamero, R., & Carballo, G. (2017). Language and motor skills in siblings of children with autism spectrum disorder: A meta-analytic review. Autism Research, 10(11), 1737–1750. https://doi.org/10.1002/aur.1829

Article  PubMed  Google Scholar 

Gillentine, M. A., Wang, T., Hoekzema, K., Rosenfeld, J., Liu, P., Guo, H., Kim, C. N., De Vries, B. B. A., Vissers, L. E. L. M., Nordenskjold, M., Kvarnung, M., Lindstrand, A., Nordgren, A., Gecz, J., Iascone, M., Cereda, A., Scatigno, A., Maitz, S., Zanni, G., ... Consortium, S. (2021). Rare deleterious mutations of HNRNP genes result in shared neurodevelopmental disorders. Genome Medicine, 13(1), 63. https://doi.org/10.1186/s13073-021-00870-6

Hamburg, S., Lowe, B., Startin, C. M., Padilla, C., Coppus, A., Silverman, W., Fortea, J., Zaman, S., Head, E., Handen, B. L., Lott, I., Song, W., & Strydom, A. (2019). Assessing general cognitive and adaptive abilities in adults with Down syndrome: A systematic review. Journal of Neurodevelopmental Disorders, 11(1), 20. https://doi.org/10.1186/s11689-019-9279-8

Article  PubMed  PubMed Central  Google Scholar 

Harmsen, S., Buchert, R., Mayatepek, E., Haack, T. B., & Distelmaier, F. (2019). Bain type of X-linked syndromic mental retardation in boys. Clinical Genetics, 95(6), 734–735. https://doi.org/10.1111/cge.13524

Article  PubMed  Google Scholar 

Hu, W. F., Chahrour, M. H., & Walsh, C. A. (2014). The diverse genetic landscape of neurodevelopmental disorders. Annual Review of Genomics and Human Genetics, 15, 195–213. https://doi.org/10.1146/annurev-genom-090413-025600

Article  PubMed  Google Scholar 

Jepsen, W. M., Ramsey, K., Szelinger, S., Llaci, L., Balak, C., Belnap, N., Bilagody, C., De Both, M., Gupta, R., Naymik, M., Pandey, R., Piras, I. S., Sanchez-Castillo, M., Rangasamy, S., Narayanan, V., & Huentelman, M. J. (2019). Two additional males with X-linked, syndromic mental retardation carry de novo mutations in HNRNPH2. Clinical Genetics, 96(2), 183–185. https://doi.org/10.1111/cge.13580

Article  PubMed  PubMed Central  Google Scholar 

Kalb, L., Jacobson, L., Zisman, C., Mahone, E., Landa, R., Azad, G., Menon, D., Singh, V., Zabel, A., & Pritchard, A. (2019). Interest in research participation among caregivers of children with neurodevelopmental disorders. Journal of Autism and Developmental Disorders, 49(9), 3786–3797. https://doi.org/10.1007/s10803-019-04088-9

Article  PubMed  PubMed Central  Google Scholar 

Koegel, L. K., Bryan, K. M., Su, P. L., Vaidya, M., & Camarata, S. (2020). Definitions of nonverbal and minimally verbal in research for autism: a systematic review of the literature. Journal of Autism and Developmental Disorders, 50(8), 2957–2972. https://doi.org/10.1007/s10803-020-04402-w

Article  PubMed  PubMed Central  Google Scholar 

Kreienkamp, H.-J., Wagner, M., Weigand, H., McConkie-Rossell, A., McDonald, M., Keren, B., Mignot, C., Gauthier, J., Soucy, J.-F., Michaud, J. L., Dumas, M., Smith, R., Löbel, U., Hempel, M., Kubisch, C., Denecke, J., Campeau, P. M., Bain, J. M., & Lessel, D. (2022). Variant-specific effects define the phenotypic spectrum of HNRNPH2-associated neurodevelopmental disorders in males. Human Genetics, 141(2), 257–272. https://doi.org/10.1007/s00439-021-02412-x

Article  PubMed  Google Scholar 

Krishnan, M. L., Berry-Kravis, E., Capal, J. K., Carpenter, R., Gringras, P., Hipp, J. F., Miller, M. T., Mingorance, A., Philpot, B. D., Pletcher, M. T., Rotenberg, A., Tjeertes, J., Wang, P. P., Willgoss, T., de Wit, M. C., & Jeste, S. S. (2021). Clinical trial strategies for rare neurodevelopmental disorders: Challenges and opportunities. Nature Reviews. Drug Discovery, 20(9), 653–654. https://doi.org/10.1038/d41573-021-00085-9

Article  PubMed  Google Scholar 

Levine, J., Hakim, F., Kooy, R. F., & Gozes, I. (2022). Vineland adaptive behavior scale in a cohort of four ADNP syndrome patients implicates age-dependent developmental delays with increased impact of activities of daily living. Journal of Molecular Neuroscience, 72(8), 1531–1546. https://doi.org/10.1007/s12031-022-02048-0

Article  PubMed  Google Scholar 

Manickam, K., McClain, M. R., Demmer, L. A., Biswas, S., Kearney, H. M., Malinowski, J., Massingham, L. J., Miller, D., Yu, T. W., Hisama, F. M., & Directors, A. B. O. (2021). Exome and genome sequencing for pediatric patients with congenital anomalies or intellectual disability: an evidence-based clinical guideline of the American College of Medical Genetics and Genomics (ACMG). Genetics in Medicine, 23(11), 2029–2037. https://doi.org/10.1038/s41436-021-01242-6

Article  PubMed  Google Scholar 

Mouga, S., Almeida, J., Café, C., Duque, F., & Oliveira, G. (2015). Adaptive profiles in autism and other neurodevelopmental disorders. Journal of Autism and Developmental Disorders, 45(4), 1001–1012. https://doi.org/10.1007/s10803-014-2256-x

Article  PubMed  Google Scholar 

Posar, A., & Visconti, P. (2021). Update about “minimally verbal” children with autism spectrum disorder. Revista Paulista de Pediatria, 40, e2020158. https://doi.org/10.1590/1984-0462/2022/40/2020158

Article  PubMed  PubMed Central  Google Scholar 

Rare Diseases: Natural History Studies for Drug Development. (2019). Website with FDA draft guidance: https://www.fda.gov/regulatory-information/search-fda-guidance-documents/rare-diseases-natural-history-studies-drug-development

Salazar, R., Beenders, S., LaMarca, N. M., Thornburg, O., Rubin-Thompson, L., Snow, A., Goldman, S., Chung, W. K., & Bain, J. M. (2021). Cross-sectional, quantitative analysis of motor function in females with HNRNPH2-related disorder. Research in Developmental Disabilities, 119, 104110. https://doi.org/10.1016/j.ridd.2021.104110

Article  PubMed  Google Scholar 

Shore, B. J., Allar, B. G., Miller, P. E., Matheney, T. H., Snyder, B. D., & Fragala-Pinkham, M. (2019). Measuring the reliability and construct validity of the pediatric evaluation of disability inventory-computer adaptive test (PEDI-CAT) in children with cerebral palsy. Archives of Physical Medicine and Rehabilitation, 100(1), 45–51. https://doi.org/10.1016/j.apmr.2018.07.427

Article  PubMed  Google Scholar 

Tasse, M. J., Schalock, R. L., Balboni, G., Bersani, H., Jr., Borthwick-Duffy, S. A., Spreat, S., Thissen, D., Widaman, K. F., & Zhang, D. (2012). The construct of adaptive behavior: Its conceptualization, measurement, and use in the field of intellectual disability. American Journal on Intellectual and Developmental Disabilities, 117(4), 291–303. https://doi.org/10.1352/1944-7558-117.4.291

Article  PubMed  Google Scholar 

Vorstman, J. A. S., Parr, J. R., Moreno-De-Luca, D., Anney, R. J. L., Nurnberger, J. I., Jr., & Hallmayer, J. F. (2017). Autism genetics: Opportunities and challenges for clinical translation. Nature Reviews Genetics, 18(6), 362–376. https://doi.org/10.1038/nrg.2017.4

Article  PubMed  Google Scholar