Skip to main content
Advertisement
  • Neurology.org
  • Journals
    • Neurology
    • Clinical Practice
    • Education
    • Genetics
    • Neuroimmunology & Neuroinflammation
  • Online Sections
    • Neurology Video Journal Club
    • Diversity, Equity, & Inclusion (DEI)
    • Neurology: Clinical Practice Accelerator
    • Practice Buzz
    • Practice Current
    • Residents & Fellows
    • Without Borders
  • Collections
    • COVID-19
    • Disputes & Debates
    • Health Disparities
    • Infographics
    • Neurology Future Forecasting Series
    • Null Hypothesis
    • Patient Pages
    • Topics A-Z
    • Translations
    • UDDA Revision Series
  • Podcast
  • CME
  • About
    • About the Journals
    • Contact Us
    • Editorial Board
  • Authors
    • Submit Manuscript
    • Author Center

Advanced Search

Main menu

  • Neurology.org
  • Journals
    • Neurology
    • Clinical Practice
    • Education
    • Genetics
    • Neuroimmunology & Neuroinflammation
  • Online Sections
    • Neurology Video Journal Club
    • Diversity, Equity, & Inclusion (DEI)
    • Neurology: Clinical Practice Accelerator
    • Practice Buzz
    • Practice Current
    • Residents & Fellows
    • Without Borders
  • Collections
    • COVID-19
    • Disputes & Debates
    • Health Disparities
    • Infographics
    • Neurology Future Forecasting Series
    • Null Hypothesis
    • Patient Pages
    • Topics A-Z
    • Translations
    • UDDA Revision Series
  • Podcast
  • CME
  • About
    • About the Journals
    • Contact Us
    • Editorial Board
  • Authors
    • Submit Manuscript
    • Author Center
  • Home
  • Latest Articles
  • Current Issue
  • Past Issues
  • Neurology Video Journal Club
  • Residents & Fellows

User menu

  • Subscribe
  • My Alerts
  • Log in

Search

  • Advanced search
Neurology
Home
The most widely read and highly cited peer-reviewed neurology journal
  • Subscribe
  • My Alerts
  • Log in
Site Logo
  • Home
  • Latest Articles
  • Current Issue
  • Past Issues
  • Neurology Video Journal Club
  • Residents & Fellows

Share

April 09, 2019; 92 (15 Supplement) May 9, 2019

Motor Function of Individuals with HNRNPH2-related Disorders. (P5.6-012)

Rachel Salazar, Sara Beenders, Nicole LaMarca, Olivia Thornburg, Arielle Snow, Sylvie Goldman, Jennifer Bain
First published April 16, 2019,
Rachel Salazar
1Pediatric Neurology, Columbia University New York NY United States
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
Sara Beenders
2Physical Therapy and Rehabilitation Sciences, Drexel University Philadelphia PA United States
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
Nicole LaMarca
1Pediatric Neurology, Columbia University New York NY United States
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
Olivia Thornburg
1Pediatric Neurology, Columbia University New York NY United States
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
Arielle Snow
3Queens College, City University of New York New York NY United States
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
Sylvie Goldman
1Pediatric Neurology, Columbia University New York NY United States
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
Jennifer Bain
1Pediatric Neurology, Columbia University New York NY United States
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
Citation
Motor Function of Individuals with HNRNPH2-related Disorders. (P5.6-012)
Rachel Salazar, Sara Beenders, Nicole LaMarca, Olivia Thornburg, Arielle Snow, Sylvie Goldman, Jennifer Bain
Neurology Apr 2019, 92 (15 Supplement) P5.6-012;

Citation Manager Formats

  • BibTeX
  • Bookends
  • EasyBib
  • EndNote (tagged)
  • EndNote 8 (xml)
  • Medlars
  • Mendeley
  • Papers
  • RefWorks Tagged
  • Ref Manager
  • RIS
  • Zotero
Permissions

Make Comment

See Comments

Downloads
0

Share

  • Article
  • Info & Disclosures
Loading

Abstract

Objective: To describe the gross motor function of individuals with HNRNPH2-related disorders and determine the associations between motor function and caregiver-reported functional measures.

Background: Individuals with HNRNPH2-related disorders present with neurodevelopmental features including developmental delays, ataxia, hypotonia, hypertonia, gait disturbances, joint laxity, scoliosis, pes planus and autism spectrum disorder. Clinical management of individuals with HNRNPH2-related disorders is supportive as there are no specific treatments currently available. Rehabilitation specialists including physical therapists are involved in the evaluation and symptomatic treatment of these individuals. However, motor function has not yet been formally studied.

Design/Methods: Ten female participants with HNRNPH2-related disorders (mean age 14.4 years, range 3.3 – 37.1 years) performed the Gross Motor Function Measure-88 (GMFM-88) and caregivers completed the Pediatric Evaluation of Disability Inventory-Computer Adaptive Test (PEDI-CAT). Descriptive statistics for the GMFM-88 and PEDI-CAT were performed and convergent validity was determined using Pearson correlation coefficients.

Results: Of the 10 participants, 90% sat independently, 70% stood independently, 60% walked 10 steps, 40% negotiated stairs with a handrail and none of the participants were able to negotiate stairs without a handrail. The mean GMFM-88 total score was 128.6 points (range: 58 – 239) and the mean PEDI-CAT mobility domain score was 57.5 (range: 49 – 63). Convergent validity was found between the GMFM-88 total score and the PEDI-CAT mobility domain score (n= 10, r = 0.814, p = 0.004).

Conclusions: The GMFM-88 is useful in the evaluation of gross motor function across the disease spectrum of individuals with HNRNPH2-related disorders. Correlation between the GMFM-88 score and mobility in daily life reported by the caregiver on the PEDI-CAT, warrant the use of these outcome measures in future longitudinal studies. Further research is required to develop a psychometrically sound condition-specific motor outcome measure.

Disclosure: Dr. Salazar has received research support fromSMA Foundation, Biogen, Roche, AveXis, Mallinckrodt, Ultragenyx, PTC Therapeutics, Sarepta Therapeutics, and the Jain Foundation. . Dr. Beenders has nothing to disclose. Dr. La Marca has received personal compensation for consulting, serving on a scientific advisory board, speaking, or other activities with Biogen, AveXis, Inc., PTC Therapeutics, and Sarepta Therapeutics. Dr. La Marca has received research support from Biogen, AveXis, Inc., Roche, PTC Therapeutics, and Sarepta Therapeutics. Dr. Thornburg has nothing to disclose. Dr. Snow has nothing to disclose. Dr. Goldman has nothing to disclose. Dr. Bain has nothing to disclose.

Letters: Rapid online correspondence

No comments have been published for this article.
Comment

REQUIREMENTS

You must ensure that your Disclosures have been updated within the previous six months. Please go to our Submission Site to add or update your Disclosure information.

Your co-authors must send a completed Publishing Agreement Form to Neurology Staff (not necessary for the lead/corresponding author as the form below will suffice) before you upload your comment.

If you are responding to a comment that was written about an article you originally authored:
You (and co-authors) do not need to fill out forms or check disclosures as author forms are still valid
and apply to letter.

Submission specifications:

  • Submissions must be < 200 words with < 5 references. Reference 1 must be the article on which you are commenting.
  • Submissions should not have more than 5 authors. (Exception: original author replies can include all original authors of the article)
  • Submit only on articles published within 6 months of issue date.
  • Do not be redundant. Read any comments already posted on the article prior to submission.
  • Submitted comments are subject to editing and editor review prior to posting.

More guidelines and information on Disputes & Debates

Compose Comment

More information about text formats

Plain text

  • No HTML tags allowed.
  • Web page addresses and e-mail addresses turn into links automatically.
  • Lines and paragraphs break automatically.
Author Information
NOTE: The first author must also be the corresponding author of the comment.
First or given name, e.g. 'Peter'.
Your last, or family, name, e.g. 'MacMoody'.
Your email address, e.g. [email protected]
Your role and/or occupation, e.g. 'Orthopedic Surgeon'.
Your organization or institution (if applicable), e.g. 'Royal Free Hospital'.
Publishing Agreement
NOTE: All authors, besides the first/corresponding author, must complete a separate Publishing Agreement Form and provide via email to the editorial office before comments can be posted.
CAPTCHA
This question is for testing whether or not you are a human visitor and to prevent automated spam submissions.

Vertical Tabs

You May Also be Interested in

Back to top
  • Article
  • Info & Disclosures
Advertisement

Hastening the Diagnosis of Amyotrophic Lateral Sclerosis

Dr. Brian Callaghan and Dr. Kellen Quigg

► Watch

Related Articles

  • No related articles found.

Alert Me

  • Alert me when eletters are published
Neurology: 101 (22)

Articles

  • Ahead of Print
  • Current Issue
  • Past Issues
  • Popular Articles
  • Translations

About

  • About the Journals
  • Ethics Policies
  • Editors & Editorial Board
  • Contact Us
  • Advertise

Submit

  • Author Center
  • Submit a Manuscript
  • Information for Reviewers
  • AAN Guidelines
  • Permissions

Subscribers

  • Subscribe
  • Activate a Subscription
  • Sign up for eAlerts
  • RSS Feed
Site Logo
  • Visit neurology Template on Facebook
  • Follow neurology Template on Twitter
  • Visit Neurology on YouTube
  • Neurology
  • Neurology: Clinical Practice
  • Neurology: Education
  • Neurology: Genetics
  • Neurology: Neuroimmunology & Neuroinflammation
  • AAN.com
  • Continuum
  • Brain & Life
  • Neurology Today

Wolters Kluwer Logo

Neurology | Print ISSN:0028-3878
Online ISSN:1526-632X

© 2023 American Academy of Neurology

  • Privacy Policy
  • Feedback
  • Advertise