Journal article
Scoliosis in Friedreich's ataxia: longitudinal characterization in a large heterogeneous cohort
Annals of clinical and translational neurology, Vol.8(6), pp.1239-1250
05/05/2021
DOI: 10.1002/acn3.51352
PMCID: PMC8164850
PMID: 33949801
Abstract
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.
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.
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.
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.
Details
- Title: Subtitle
- Scoliosis in Friedreich's ataxia: longitudinal characterization in a large heterogeneous cohort
- Creators
- Christian Rummey - Clinical Data Science GmbH, Basel, SwitzerlandJohn M Flynn - Division of Orthopedics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USALouise A Corben - Department of Paediatrics, University of Melbourne, Parkville, Victoria, AustraliaMartin B Delatycki - Department of Paediatrics, University of Melbourne, Parkville, Victoria, AustraliaGeorge Wilmot - Emory University, Atlanta, Georgia, USASub H Subramony - Department of Neurology, McKnight Brain Institute, Gainesville, Florida, USAKhalaf Bushara - University of Minnesota, Minneapolis, Minnesota, USAAntoine Duquette - Department of Neurosciences, University of Montreal Hospital Research Center, Montreal, Quebec, CanadaChristopher M Gomez - University of Chicago, Chicago, Illinois, USAJ Chad Hoyle - Ohio State University, Columbus, Ohio, USARichard Roxburgh - University of Auckland, Auckland, New ZealandLauren Seeberger - University of Colorado, Boulder, Colorado, USAGrace Yoon - Divisions of Neurology and Clinical and Metabolic Genetics, Department of Paediatrics, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, CanadaKatherine D Mathews - Carver College of Medicine, University of Iowa, Iowa City, Iowa, USATheresa Zesiewicz - University of South Florida, Tampa, Florida, USASusan Perlman - University of California Los Angeles, Los Angeles, California, USADavid R Lynch - Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA
- Resource Type
- Journal article
- Publication Details
- Annals of clinical and translational neurology, Vol.8(6), pp.1239-1250
- DOI
- 10.1002/acn3.51352
- PMID
- 33949801
- PMCID
- PMC8164850
- NLM abbreviation
- Ann Clin Transl Neurol
- ISSN
- 2328-9503
- eISSN
- 2328-9503
- Publisher
- United States
- Grant note
- Friedreich's Ataxia Research Alliance
- Language
- English
- Date published
- 05/05/2021
- Academic Unit
- Neurology; Stead Family Department of Pediatrics; Iowa Neuroscience Institute; Neurology (Pediatrics)
- Record Identifier
- 9984071607702771
Metrics
13 Record Views