Department of Neurology, Columbia University Irving Medical Center, New York, NY, USA.
Department of Physical Therapy and Rehabilitation Sciences, Drexel University, Philadelphia, PA, USA.
Res Dev Disabil. 2021 Dec;119:104110. doi: 10.1016/j.ridd.2021.104110. Epub 2021 Nov 16.
To describe the gross motor function of individuals with HNRNPH2-related disorder (OMIM 300986, Mental Retardation, X-linked, Syndrome, Bain Type; MRXSB) and determine the associations between clinician-measured motor function and caregiver-reported mobility scores.
Developmental histories of 17 female participants with HNRNPH2-related disorder (mean age 11.2 years, range 2.7-37.1 years) with various genotypes within and adjacent to the nuclear localization sequence (NLS) were analyzed. Participants performed the Gross Motor Function Measure-88 (GMFM-88) and caregivers completed developmental histories and the Pediatric Evaluation of Disability Inventory-Computer Adaptive Test (PEDI-CAT).
All participants had measurable and quantifiable motor impairments. A strong positive correlation between the clinician-measured GMFM-88 total score and the caregiver-reported PEDI-CAT mobility domain score was established. Motor deficits were noted more often in individuals who were nonverbal. The 2 participants with genotypes adjacent to the NLS appear to have milder motor phenotypes.
The GMFM-88 and PEDI-CAT are useful and feasible measures of mobility in individuals with HNRNPH2-related disorders. Convergent validity was established between the clinician-measured GMFM-88 raw scores and caregiver-reported PEDI-CAT mobility domain scores. Factors including verbal status and genotype may impact motor abilities.
描述 HNRNPH2 相关疾病患者（OMIM 300986，X 连锁智力障碍，贝恩综合征型；MRXSB）的粗大运动功能，并确定临床医生测量的运动功能与照顾者报告的移动能力评分之间的关联。
分析了 17 名女性 HNRNPH2 相关疾病患者（平均年龄 11.2 岁，范围 2.7-37.1 岁）的发育史，这些患者的基因型位于核定位序列（NLS）内和附近。参与者进行了粗大运动功能测量-88 项（GMFM-88），照顾者完成了发育史和小儿残疾评估量表-计算机自适应测试（PEDI-CAT）。
所有参与者都有可测量和可量化的运动障碍。临床医生测量的 GMFM-88 总分与照顾者报告的 PEDI-CAT 移动能力域评分之间建立了强烈的正相关关系。非言语者更容易出现运动缺陷。位于 NLS 附近的 2 名患者的基因型似乎表现出较轻的运动表型。
GMFM-88 和 PEDI-CAT 是评估 HNRNPH2 相关疾病患者移动能力的有用且可行的方法。临床医生测量的 GMFM-88 原始分数与照顾者报告的 PEDI-CAT 移动能力域评分之间建立了收敛有效性。包括言语状态和基因型在内的因素可能会影响运动能力。
