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Early presentation of gait impairment in Wolfram Syndrome

BACKGROUND: Classically characterized by early onset insulin-dependent diabetes mellitus, optic atrophy, deafness, diabetes insipidus, and neurological abnormalities, Wolfram syndrome (WFS) is also associated with atypical brainstem and cerebellar findings in the first decade of life. As such, we hy...

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Autores principales: Pickett, Kristen A, Duncan, Ryan P, Hoekel, James, Marshall, Bess, Hershey, Tamara, Earhart, Gammon M
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2012
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3551701/
https://www.ncbi.nlm.nih.gov/pubmed/23217193
http://dx.doi.org/10.1186/1750-1172-7-92
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author Pickett, Kristen A
Duncan, Ryan P
Hoekel, James
Marshall, Bess
Hershey, Tamara
Earhart, Gammon M
author_facet Pickett, Kristen A
Duncan, Ryan P
Hoekel, James
Marshall, Bess
Hershey, Tamara
Earhart, Gammon M
author_sort Pickett, Kristen A
collection PubMed
description BACKGROUND: Classically characterized by early onset insulin-dependent diabetes mellitus, optic atrophy, deafness, diabetes insipidus, and neurological abnormalities, Wolfram syndrome (WFS) is also associated with atypical brainstem and cerebellar findings in the first decade of life. As such, we hypothesized that gait differences between individuals with WFS and typically developing (TD) individuals may be detectable across the course of the disease. METHODS: Gait was assessed for 13 individuals with WFS (min 6.4 yrs, max 25.8 yrs) and 29 age-matched, typically developing individuals (min 5.6 yrs, max 28.5 yrs) using a GAITRite ® walkway system. Velocity, cadence, step length, base of support and double support time were compared between groups. RESULTS: Across all tasks, individuals with WFS walked slower (p = 0.03), took shorter (p ≤ 0.001) and wider (p ≤ 0.001) steps and spent a greater proportion of the gait cycle in double support (p = 0.03) compared to TD individuals. Cadence did not differ between groups (p = 0.62). Across all tasks, age was significantly correlated with cadence and double support time in the TD group but only double support time was correlated with age in the WFS group and only during preferred pace forward (r(s)= 0.564, p = 0.045) and dual task forward walking (r(s)= 0.720, p = 0.006) tasks. Individuals with WFS also had a greater number of missteps during tandem walking (p ≤ 0.001). Within the WFS group, spatiotemporal measures of gait did not correlate with measures of visual acuity. Balance measures negatively correlated with normalized gait velocity during fast forward walking (rs = −0.59, p = 0.03) and percent of gait cycle in double support during backward walking (rs = −0.64, p = 0.03). CONCLUSIONS: Quantifiable gait impairments can be detected in individuals with WFS earlier than previous clinical observations suggested. These impairments are not fully accounted for by the visual or balance deficits associated with WFS, and may be a reflection of early cerebellar and/or brainstem abnormalities. Effective patient-centered treatment paradigms could benefit from a more complete understanding of the progression of motor and other neurological symptom presentation in individuals with WFS.
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spelling pubmed-35517012013-01-24 Early presentation of gait impairment in Wolfram Syndrome Pickett, Kristen A Duncan, Ryan P Hoekel, James Marshall, Bess Hershey, Tamara Earhart, Gammon M Orphanet J Rare Dis Research BACKGROUND: Classically characterized by early onset insulin-dependent diabetes mellitus, optic atrophy, deafness, diabetes insipidus, and neurological abnormalities, Wolfram syndrome (WFS) is also associated with atypical brainstem and cerebellar findings in the first decade of life. As such, we hypothesized that gait differences between individuals with WFS and typically developing (TD) individuals may be detectable across the course of the disease. METHODS: Gait was assessed for 13 individuals with WFS (min 6.4 yrs, max 25.8 yrs) and 29 age-matched, typically developing individuals (min 5.6 yrs, max 28.5 yrs) using a GAITRite ® walkway system. Velocity, cadence, step length, base of support and double support time were compared between groups. RESULTS: Across all tasks, individuals with WFS walked slower (p = 0.03), took shorter (p ≤ 0.001) and wider (p ≤ 0.001) steps and spent a greater proportion of the gait cycle in double support (p = 0.03) compared to TD individuals. Cadence did not differ between groups (p = 0.62). Across all tasks, age was significantly correlated with cadence and double support time in the TD group but only double support time was correlated with age in the WFS group and only during preferred pace forward (r(s)= 0.564, p = 0.045) and dual task forward walking (r(s)= 0.720, p = 0.006) tasks. Individuals with WFS also had a greater number of missteps during tandem walking (p ≤ 0.001). Within the WFS group, spatiotemporal measures of gait did not correlate with measures of visual acuity. Balance measures negatively correlated with normalized gait velocity during fast forward walking (rs = −0.59, p = 0.03) and percent of gait cycle in double support during backward walking (rs = −0.64, p = 0.03). CONCLUSIONS: Quantifiable gait impairments can be detected in individuals with WFS earlier than previous clinical observations suggested. These impairments are not fully accounted for by the visual or balance deficits associated with WFS, and may be a reflection of early cerebellar and/or brainstem abnormalities. Effective patient-centered treatment paradigms could benefit from a more complete understanding of the progression of motor and other neurological symptom presentation in individuals with WFS. BioMed Central 2012-12-08 /pmc/articles/PMC3551701/ /pubmed/23217193 http://dx.doi.org/10.1186/1750-1172-7-92 Text en Copyright ©2012 Pickett et al.; licensee BioMed Central Ltd. http://creativecommons.org/licenses/by/2.0 This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/2.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Research
Pickett, Kristen A
Duncan, Ryan P
Hoekel, James
Marshall, Bess
Hershey, Tamara
Earhart, Gammon M
Early presentation of gait impairment in Wolfram Syndrome
title Early presentation of gait impairment in Wolfram Syndrome
title_full Early presentation of gait impairment in Wolfram Syndrome
title_fullStr Early presentation of gait impairment in Wolfram Syndrome
title_full_unstemmed Early presentation of gait impairment in Wolfram Syndrome
title_short Early presentation of gait impairment in Wolfram Syndrome
title_sort early presentation of gait impairment in wolfram syndrome
topic Research
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3551701/
https://www.ncbi.nlm.nih.gov/pubmed/23217193
http://dx.doi.org/10.1186/1750-1172-7-92
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