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Sökning: WFRF:(van der Stoep N) > (2021) > Natural History of ...

  • Dijkstra, Jildou N.Radboud Univ Nijmegen, Netherlands; Radboud Univ Nijmegen, Netherlands (författare)

Natural History of Facioscapulohumeral Dystrophy in Children A 2-Year Follow-up

  • Artikel/kapitelEngelska2021

Förlag, utgivningsår, omfång ...

  • LIPPINCOTT WILLIAMS & WILKINS,2021
  • printrdacarrier

Nummerbeteckningar

  • LIBRIS-ID:oai:DiVA.org:liu-182240
  • https://urn.kb.se/resolve?urn=urn:nbn:se:liu:diva-182240URI
  • https://doi.org/10.1212/WNL.0000000000012882DOI

Kompletterande språkuppgifter

  • Språk:engelska
  • Sammanfattning på:engelska

Ingår i deldatabas

Klassifikation

  • Ämneskategori:ref swepub-contenttype
  • Ämneskategori:art swepub-publicationtype

Anmärkningar

  • Funding Agencies|charitable foundation Prinses Beatrix Spierfonds/Spieren voor Spieren [W.OR14.22]
  • Background and Objectives Data on the natural history of facioscapulohumeral dystrophy (FSHD) in childhood are limited and critical for improved patient care and clinical trial readiness. Our objective was to describe the disease course of FSHD in children. Methods We performed a nationwide, single-center, prospective cohort study of FSHD in childhood assessing muscle functioning, imaging, and quality of life over 2 years of follow-up. Results We included 20 children with genetically confirmed FSHD who were 2 to 17 years of age. Overall, symptoms were slowly progressive, and the mean FSHD clinical score increased from 2.1 to 2.8 (p = 0.003). The rate of progression was highly variable. At baseline, 16 of 20 symptomatic children had facial weakness; after 2 years, facial weakness was observed in 19 of 20 children. Muscle strength did not change between baseline and follow-up. The most frequently and most severely affected muscles were the trapezius and deltoid. The functional exercise capacity, measured with the 6-minute walk test, improved. Systemic features were infrequent and nonprogressive. Weakness-associated complications such as lumbar hyperlordosis and dysarthria were common, and their prevalence increased during follow-up. Pain and fatigue were frequent complaints in children, and their prevalence also increased during follow-up. Muscle ultrasonography revealed a progressive increase in echogenicity. Discussion FSHD in childhood has a slowly progressive but variable course over 2 years of follow-up. The most promising outcome measures to detect progression were the FSHD clinical score and muscle ultrasonography. Despite this disease progression, an improvement on functional capacity may still occur as the child grows up. Pain, fatigue, and a decreased quality of life were common symptoms and need to be addressed in the management of childhood FSHD. Our data can be used to counsel patients and as baseline measures for treatment trials in childhood FSHD.

Ämnesord och genrebeteckningar

Biuppslag (personer, institutioner, konferenser, titlar ...)

  • Goselink, Rianne J. M.Linköpings universitet,Institutionen för biomedicinska och kliniska vetenskaper,Medicinska fakulteten,Region Östergötland, Neurologiska kliniken i Linköping(Swepub:liu)n/a (författare)
  • van Alfen, NensRadboud Univ Nijmegen, Netherlands (författare)
  • de Groot, Imelda J. M.Radboud Univ Nijmegen, Netherlands (författare)
  • Pelsma, MaaikeRadboud Univ Nijmegen, Netherlands (författare)
  • van der Stoep, NienkeLeiden Univ, Netherlands (författare)
  • Theelen, ThomasRadboud Univ Nijmegen, Netherlands; Radboud Univ Nijmegen, Netherlands (författare)
  • van Engelen, Baziel G. M.Radboud Univ Nijmegen, Netherlands (författare)
  • Voermans, Nicol C.Radboud Univ Nijmegen, Netherlands (författare)
  • Erasmus, Corrie E.Radboud Univ Nijmegen, Netherlands (författare)
  • Radboud Univ Nijmegen, Netherlands; Radboud Univ Nijmegen, NetherlandsInstitutionen för biomedicinska och kliniska vetenskaper (creator_code:org_t)

Sammanhörande titlar

  • Ingår i:Neurology: LIPPINCOTT WILLIAMS & WILKINS97:21, s. E2103-E21130028-38781526-632X

Internetlänk

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  • Neurology (Sök värdpublikationen i LIBRIS)

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