PMID- 34794115
OWN - NLM
STAT- MEDLINE
DCOM- 20211130
LR  - 20220724
IS  - 1873-3379 (Electronic)
IS  - 0891-4222 (Linking)
VI  - 119
DP  - 2021 Dec
TI  - Cross-sectional, quantitative analysis of motor function in females with 
      HNRNPH2-related disorder.
PG  - 104110
LID - S0891-4222(21)00259-6 [pii]
LID - 10.1016/j.ridd.2021.104110 [doi]
AB  - AIMS: 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. METHODS: 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). 
      RESULTS: 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. CONCLUSIONS: 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.
CI  - Copyright (c) 2021 Elsevier Ltd. All rights reserved.
FAU - Salazar, Rachel
AU  - Salazar R
AD  - Department of Neurology, Columbia University Irving Medical Center, New York, NY, 
      USA.
FAU - Beenders, Sara
AU  - Beenders S
AD  - Department of Physical Therapy and Rehabilitation Sciences, Drexel University, 
      Philadelphia, PA, USA.
FAU - LaMarca, Nicole M
AU  - LaMarca NM
AD  - Department of Neurology, Columbia University Irving Medical Center, New York, NY, 
      USA.
FAU - Thornburg, Olivia
AU  - Thornburg O
AD  - Department of Neurology, Columbia University Irving Medical Center, New York, NY, 
      USA.
FAU - Rubin-Thompson, Lewis
AU  - Rubin-Thompson L
AD  - Columbia University, New York, NY, USA.
FAU - Snow, Arielle
AU  - Snow A
AD  - Queens College, City University of New York, New York, USA.
FAU - Goldman, Sylvie
AU  - Goldman S
AD  - Department of Neurology, Columbia University Irving Medical Center, New York, NY, 
      USA.
FAU - Chung, Wendy K
AU  - Chung WK
AD  - Department of Pediatrics and Medicine, Columbia University Irving Medical Center, 
      New York, NY, USA.
FAU - Bain, Jennifer M
AU  - Bain JM
AD  - Department of Neurology, Columbia University Irving Medical Center, New York, NY, 
      USA. Electronic address: Jb3634@cumc.columbia.edu.
LA  - eng
GR  - L40 NS113130/NS/NINDS NIH HHS/United States
PT  - Journal Article
DEP - 20211116
PL  - United States
TA  - Res Dev Disabil
JT  - Research in developmental disabilities
JID - 8709782
RN  - 0 (HNRNPH2 protein, human)
RN  - 0 (Heterogeneous-Nuclear Ribonucleoprotein Group F-H)
SB  - IM
MH  - Adolescent
MH  - Adult
MH  - *Cerebral Palsy
MH  - Child
MH  - Child, Preschool
MH  - Computers
MH  - Cross-Sectional Studies
MH  - Disability Evaluation
MH  - Female
MH  - Heterogeneous-Nuclear Ribonucleoprotein Group F-H/*genetics
MH  - Humans
MH  - *Intellectual Disability/genetics
MH  - Motor Skills
MH  - Young Adult
OTO - NOTNLM
OT  - Caregiver-report
OT  - HNRNPH2
OT  - Motor function
OT  - Neurodevelopmental disorder
EDAT- 2021/11/19 06:00
MHDA- 2021/12/01 06:00
CRDT- 2021/11/18 20:24
PHST- 2020/12/16 00:00 [received]
PHST- 2021/08/12 00:00 [revised]
PHST- 2021/10/05 00:00 [accepted]
PHST- 2021/11/19 06:00 [pubmed]
PHST- 2021/12/01 06:00 [medline]
PHST- 2021/11/18 20:24 [entrez]
AID - S0891-4222(21)00259-6 [pii]
AID - 10.1016/j.ridd.2021.104110 [doi]
PST - ppublish
SO  - Res Dev Disabil. 2021 Dec;119:104110. doi: 10.1016/j.ridd.2021.104110. Epub 2021 
      Nov 16.