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Scoliosis in Friedreich's ataxia: longitudinal characterization in a large heterogeneous cohort.
Rummey, Christian; Flynn, John M; Corben, Louise A; Delatycki, Martin B; Wilmot, George; Subramony, Sub H; Bushara, Khalaf; Duquette, Antoine; Gomez, Christopher M; Hoyle, J Chad; Roxburgh, Richard; Seeberger, Lauren; Yoon, Grace; Mathews, Katherine D; Zesiewicz, Theresa; Perlman, Susan; Lynch, David R.
Afiliación
  • Rummey C; Clinical Data Science GmbH, Basel, Switzerland.
  • Flynn JM; Division of Orthopedics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
  • Corben LA; Bruce Lefroy Centre for Genetic Health Research, Murdoch Children's Research Institute, Parkville, Victoria, Australia.
  • Delatycki MB; Department of Paediatrics, University of Melbourne, Parkville, Victoria, Australia.
  • Wilmot G; Bruce Lefroy Centre for Genetic Health Research, Murdoch Children's Research Institute, Parkville, Victoria, Australia.
  • Subramony SH; Department of Paediatrics, University of Melbourne, Parkville, Victoria, Australia.
  • Bushara K; Emory University, Atlanta, Georgia, USA.
  • Duquette A; Department of Neurology, McKnight Brain Institute, Gainesville, Florida, USA.
  • Gomez CM; University of Minnesota, Minneapolis, Minnesota, USA.
  • Hoyle JC; Department of Neurosciences, University of Montreal Hospital Research Center, Montreal, Quebec, Canada.
  • Roxburgh R; University of Chicago, Chicago, Illinois, USA.
  • Seeberger L; Ohio State University, Columbus, Ohio, USA.
  • Yoon G; University of Auckland, Auckland, New Zealand.
  • Mathews KD; University of Colorado, Boulder, Colorado, USA.
  • Zesiewicz T; Divisions of Neurology and Clinical and Metabolic Genetics, Department of Paediatrics, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada.
  • Perlman S; Carver College of Medicine, University of Iowa, Iowa City, Iowa, USA.
  • Lynch DR; University of South Florida, Tampa, Florida, USA.
Ann Clin Transl Neurol ; 8(6): 1239-1250, 2021 06.
Article en En | MEDLINE | ID: mdl-33949801
ABSTRACT

OBJECTIVE:

The objective of this study was to characterize the incidence and progression of scoliosis in the natural history of Friedreich's ataxia (FRDA) and document the factors leading to the requirement for corrective surgery.

METHODS:

Data on the prevalence of scoliosis and scoliosis surgery from up to 17 years of follow-up collected during a large natural history study in FRDA (1116 patients at 4928 visits) were summarized descriptively and subjected to time to event analyses.

RESULTS:

Well over 90% of early or typical FRDA patients (as determined by age of onset) developed intermediate to severe scoliosis, while patients with a later onset (>14 years) had no or much lower prevalence of scoliosis. Diagnosis of scoliosis occurs during the onset of ataxia and in rare cases even prior to that. Major progression follows throughout the growth phase and puberty, leading to the need for surgical intervention in more than 50% of individuals in the most severe subgroup. The youngest patients appear to delay surgery until the end of the growth period, leading to further progression before surgical intervention. Age of onset of FRDA before or after reaching 15 years sharply separated severe and relatively mild incidence and progression of scoliosis.

INTERPRETATION:

Scoliosis is an important comorbidity of FRDA. Our comprehensive documentation of scoliosis progression in this natural history study provides a baseline for comparison as novel treatments become available.
Asunto(s)

Texto completo: 1 Base de datos: MEDLINE Asunto principal: Escoliosis / Ataxia de Friedreich Tipo de estudio: Clinical_trials / Observational_studies / Prevalence_studies / Risk_factors_studies Límite: Adolescent / Adult / Child / Humans / Middle aged Idioma: En Revista: Ann Clin Transl Neurol Año: 2021 Tipo del documento: Article País de afiliación: Suiza

Texto completo: 1 Base de datos: MEDLINE Asunto principal: Escoliosis / Ataxia de Friedreich Tipo de estudio: Clinical_trials / Observational_studies / Prevalence_studies / Risk_factors_studies Límite: Adolescent / Adult / Child / Humans / Middle aged Idioma: En Revista: Ann Clin Transl Neurol Año: 2021 Tipo del documento: Article País de afiliación: Suiza