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Functional parameter measurements in children with ataxia telangiectasia
Author(s) -
Shenhod Efrat,
Benzeev Bruria,
Sarouk Ifat,
Heimer Gali,
Nissenkorn Andreea
Publication year - 2020
Publication title -
developmental medicine and child neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.658
H-Index - 143
eISSN - 1469-8749
pISSN - 0012-1622
DOI - 10.1111/dmcn.14334
Subject(s) - activities of daily living , ataxia , gross motor function classification system , medicine , physical therapy , ambulatory , gross motor skill , psychology , pediatrics , physical medicine and rehabilitation , motor skill , developmental psychology , cerebral palsy , psychiatry
Aim To collect preliminary functional data on ataxia telangiectasia and create a disease specific scale: the Ataxia Telangiectasia Functional Scale ( ATFS ). Method Retrospective information on patients with ataxia telangiectasia referred to the Assistive Technology Unit was included. Functional mobility scales (the Gross Motor Function Classification System [ GMFCS ] and the Functional Mobility Scale [ FMS ]‐5, FMS ‐50, FMS ‐500) and activities of daily living [ ADL ] parameters were recorded. We created a 51‐point ATFS , that consisted of three ambulation items adapted for ataxia telangiectasia in the frame of FMS (home, school, outdoors), five ADL items, and one schooling item. Results Twenty‐seven participants (17 males, 10 females; mean age 10y 8mo [ SD 5y 1mo], range 1y 9mo–25y 6mo), were enrolled; 168 measurements were recorded. Patients walked at a mean age of 1 year 4 months ( SD 5y 4mo) and lost ambulatory capacity at 8 years 8 months ( SD 2y 1mo). GMFCS level and FMS ‐5, FMS ‐50, FMS ‐500 assessments correlated with age (Spearman's correlations r =0.555, −0.617, −0.639, −0.662 respectively, p <0.01 for all), but plateaued after 12 years of age. ATFS mean score was 37.46 ( SD 7.88) and increased with age (Spearman's correlation r =0.585, p <0.01). The scale showed three stages of disease progression. Interpretation In this pilot study we show longitudinal functional data of ambulation and ADL skills in ataxia telangiectasia, and created a framework for a functional scale. This functional scale closely approximated disease course, but further validation is required. What this paper adds The Gross Motor Function Classification System and the Functional Mobility Scale are ill‐suited for ataxia telangiectasia assessments. Three functional mobility scales (home, school, outdoors) suited to ataxia telangiectasia were created. The Ataxia Telangiectasia Functional Scale (ATFS) combines mobility and items of activities of daily living. The ATFS closely approximates the three‐stage progression of the disorder.