Literature DB >> 29532198

Quantification of gait in children with mitochondrial disease.

Saskia Koene1, Niki M Stolwijk2, Rob Ramakers3, Maaike de Vries3, Lonneke de Boer3, Mirian C H Janssen3,4, Imelda de Groot3,5, Jan Smeitink3.   

Abstract

Mitochondrial disorders are multisystem conditions that can potentially affect gait in many ways. The aim of this study was to select the optimal protocol to quantify the spatiotemporal parameters of gait in ambulatory children with mitochondrial disorders based on feasibility, test-retest reliability, and the difference between patients and controls. Gait at self-selected pace was quantified in ambulatory children with a genetically confirmed primary mitochondrial disease using the GAITRite electronic walkway. Three protocols were tested: pre-exercise, post-exercise (after a 3-min walking test), and recovery. In 14 ambulatory patients, we showed good to perfect reliability for velocity, cadence, step length, step time, step time variability, and step width in the recovery condition. The difference between patients and 70 individually age- and gender matched healthy controls only became apparent in the post-exercise protocol. In conclusion, measuring spatiotemporal parameters of gait using the GAITRite in ambulatory children with mitochondrial disease is feasible and reliable for most of the parameters measured. When using gait analysis in future studies in children with mitochondrial disease, we advise i) to use an exercise test prior to the gait analysis, ii) to let children practice the test before the actual data collection, and iii) not to use symmetry parameters.

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Year:  2018        PMID: 29532198     DOI: 10.1007/s10545-018-0148-5

Source DB:  PubMed          Journal:  J Inherit Metab Dis        ISSN: 0141-8955            Impact factor:   4.982


  31 in total

Review 1.  Gait dynamics, fractals and falls: finding meaning in the stride-to-stride fluctuations of human walking.

Authors:  Jeffrey M Hausdorff
Journal:  Hum Mov Sci       Date:  2007-07-05       Impact factor: 2.161

2.  Are spatiotemporal gait characteristics reliable outcome measures in children with developmental coordination disorder?

Authors:  Stewart C Morrison; Jill Ferrari; Sally Smillie
Journal:  Pediatr Phys Ther       Date:  2012       Impact factor: 3.049

3.  Gait Patterns in Children With Cancer and Vincristine Neuropathy.

Authors:  Laura Gilchrist; Lynn Tanner
Journal:  Pediatr Phys Ther       Date:  2016       Impact factor: 3.049

Review 4.  Epidemiology and treatment of mitochondrial disorders.

Authors:  P F Chinnery; D M Turnbull
Journal:  Am J Med Genet       Date:  2001

5.  A mitochondrial protein compendium elucidates complex I disease biology.

Authors:  David J Pagliarini; Sarah E Calvo; Betty Chang; Sunil A Sheth; Scott B Vafai; Shao-En Ong; Geoffrey A Walford; Canny Sugiana; Avihu Boneh; William K Chen; David E Hill; Marc Vidal; James G Evans; David R Thorburn; Steven A Carr; Vamsi K Mootha
Journal:  Cell       Date:  2008-07-11       Impact factor: 41.582

6.  Clinical features and heteroplasmy in blood, urine and saliva in 34 Dutch families carrying the m.3243A > G mutation.

Authors:  Paul de Laat; Saskia Koene; Lambert P W J van den Heuvel; Richard J T Rodenburg; Mirian C H Janssen; Jan A M Smeitink
Journal:  J Inherit Metab Dis       Date:  2012-03-09       Impact factor: 4.982

7.  Quantification of gait in mitochondrial m.3243A > G patients: a validation study.

Authors:  Rob Ramakers; Saskia Koene; Jan T Groothuis; Paul de Laat; Mirian Ch Janssen; Jan Smeitink
Journal:  Orphanet J Rare Dis       Date:  2017-05-15       Impact factor: 4.123

8.  MitoCarta2.0: an updated inventory of mammalian mitochondrial proteins.

Authors:  Sarah E Calvo; Karl R Clauser; Vamsi K Mootha
Journal:  Nucleic Acids Res       Date:  2015-10-07       Impact factor: 16.971

9.  Gait in Very Preterm School-Aged Children in Dual-Task Paradigms.

Authors:  Priska Hagmann-von Arx; Olivia Manicolo; Nadine Perkinson-Gloor; Peter Weber; Alexander Grob; Sakari Lemola
Journal:  PLoS One       Date:  2015-12-07       Impact factor: 3.240

Review 10.  Mitochondrial disorders in children: toward development of small-molecule treatment strategies.

Authors:  Werner Jh Koopman; Julien Beyrath; Cheuk-Wing Fung; Saskia Koene; Richard J Rodenburg; Peter Hgm Willems; Jan Am Smeitink
Journal:  EMBO Mol Med       Date:  2016-04-01       Impact factor: 12.137

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