Validating the Rett Syndrome Gross Motor Scale

PloS One
Jenny DownsHelen Leonard

Abstract

Rett syndrome is a pervasive neurodevelopmental disorder associated with a pathogenic mutation on the MECP2 gene. Impaired movement is a fundamental component and the Rett Syndrome Gross Motor Scale was developed to measure gross motor abilities in this population. The current study investigated the validity and reliability of the Rett Syndrome Gross Motor Scale. Video data showing gross motor abilities supplemented with parent report data was collected for 255 girls and women registered with the Australian Rett Syndrome Database, and the factor structure and relationships between motor scores, age and genotype were investigated. Clinical assessment scores for 38 girls and women with Rett syndrome who attended the Danish Center for Rett Syndrome were used to assess consistency of measurement. Principal components analysis enabled the calculation of three factor scores: Sitting, Standing and Walking, and Challenge. Motor scores were poorer with increasing age and those with the p.Arg133Cys, p.Arg294* or p.Arg306Cys mutation achieved higher scores than those with a large deletion. The repeatability of clinical assessment was excellent (intraclass correlation coefficient for total score 0.99, 95% CI 0.93-0.98). The standard error ...Continue Reading

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Citations

May 22, 2016·Disability and Rehabilitation·Bitten Schönewolf-GreulichAnne-Marie Bisgaard
Aug 26, 2016·Disability and Rehabilitation·Michelle StahlhutEva Nordmark
Dec 10, 2016·Nature Reviews. Neurology·Helen LeonardJenny Downs
Feb 7, 2017·Developmental Medicine and Child Neurology·Jenny DownsKylie Hill
Jun 22, 2018·Journal of Child Neurology·Charles Shannon LayneBernhard Suter
Aug 2, 2018·Orphanet Journal of Rare Diseases·Jatinder Singh, Paramala Santosh
Nov 27, 2018·Developmental Medicine and Child Neurology·Marina L Rodocanachi RoidiEnrico Ripamonti
Jan 13, 2018·Orphanet Journal of Rare Diseases·Jenny DownsHelen Leonard
Mar 5, 2020·Annals of Neurology·Pia BernardoRaffaele Dubbioso
Dec 14, 2019·BMJ Supportive & Palliative Care·Colleen PawliukHarold Hal Siden
Jun 4, 2016·American Journal of Medical Genetics. Part a·Sharolin BobanHelen Leonard
Sep 16, 2020·Disability and Rehabilitation·David R YoungCharles S Layne
Aug 6, 2016·Wiener medizinische Wochenschrift·Jenny Downs, Helen Leonard
Jun 1, 2016·Journal of Paediatrics and Child Health·Jenny DownsHelen Leonard
Mar 23, 2018·Journal of Developmental and Physical Disabilities·Hanneke E BorstLeopold M G Curfs
Nov 2, 2019·Developmental Neurorehabilitation·Alberto RomanoRosa Angela Fabio
Nov 20, 2020·American Journal on Intellectual and Developmental Disabilities·Audrey ThurmAnne Wheeler
Jan 14, 2021·Scientific Reports·Tz-Yun JanWang-Tso Lee
May 31, 2019·Pediatric Neurology·Scott DemarestTim A Benke
Apr 23, 2021·Child: Care, Health and Development·Dinah ReddihoughJenny Downs
Jun 11, 2021·Orphanet Journal of Rare Diseases·Jennifer M BainSylvie Goldman
Jul 24, 2021·American Journal of Medical Genetics. Part a·Anne-Marie BisgaardMichelle Stahlhut
Aug 12, 2021·Journal of Child Neurology·Jacinta SaldarisJenny Downs
Oct 2, 2021·Neurotherapeutics : the Journal of the American Society for Experimental NeuroTherapeutics·Dylan C BrockTim A Benke

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