Friedreich's ataxia and scoliosis: The experience at two institutions

Todd A. Milbrandt, Justin R. Kunes, Lori A. Karol

Research output: Contribution to journalArticle

28 Citations (Scopus)

Abstract

PURPOSE: Friedreich's ataxia is a genetically transmitted, progressive spinocerebellar degenerative disease characterized by ataxia. The purpose of this study is to evaluate the demographics, progression, nonoperative, and operative treatment of spinal deformities in patients with Friedreich's ataxia at 2 tertiary pediatric orthopaedic hospitals. METHODS: After institutional review board approval, chart review of Friedreich's ataxia patients identified those having scoliosis. Demographic data, length of follow-up, brace treatment, operative treatment, and complications were determined. Radiographic review was also performed. RESULTS: Seventy-seven patients were identified as having Friedreich's ataxia, of which 49 (63%) were diagnosed with scoliosis. Twenty-seven were male; 22 were female. Mean age at diagnosis of scoliosis was 12.8 years (4.9-20 years). Mean follow-up was 3.7 years (0-13 years).There were 16 (33%) double major curves, with 8 (22%) of the thoracic curves being left sided. Hyperkyphosis was present in 12 (24.5%).Twenty-four (49%) of patients progressed ≥6 degrees. Using a chi-square analysis, there was no association, with a curve magnitude of 10 degrees before the age of 10 years and progression of the curve (P = 0.4386). Ten (20%) patients were treated in braces, with average progression in brace of 15 (0-44) degrees.Sixteen (33%) patients were treated with spinal fusion (15 posterior spinal fusion and 1 anterior spinal fusion). Thirteen (81%) of 16 patients who underwent operative intervention were wheelchair dependent. Somatosensory evoked potentials monitoring was attempted in 11 patients but was effective in only 1. Immediate postoperative correction averaged 49% in the thoracic spine (24%-87%) and 51% in the lumbar spine (26%-82%). This correction decreased to 39% in the thoracic (-22% to 85 %) and 30% in the lumbar spine (-35% to 82%) at final follow-up. The average postoperative follow-up was 3.6 years (2-6.5). One patient (6.2%) developed an infection and was the only patient who underwent reoperation. CONCLUSIONS: Scoliosis in Friedreich's ataxia is common (63%). Curve patterns are variable and do not necessarily resemble idiopathic curves. Although few patients were braced, results were poor. Fusion using modern segmental constructs was effective in creating substantial intraoperative correction and maintaining correction postoperatively. SSEP monitoring was usually ineffective, so preparation for a wake-up test is recommended. SIGNIFICANCE: Patients with Friedreich's ataxia need to be carefully screened for scoliosis and counseled about the high rate of surgical fusion. Using modern implants, correction can be achieved and maintained.

Original languageEnglish (US)
Pages (from-to)234-238
Number of pages5
JournalJournal of Pediatric Orthopaedics
Volume28
Issue number2
DOIs
StatePublished - Mar 2008

Fingerprint

Friedreich Ataxia
Scoliosis
Spinal Fusion
Braces
Spine
Thorax
Demography
Spinocerebellar Degenerations
Wheelchairs
Pediatric Hospitals
Somatosensory Evoked Potentials
Research Ethics Committees
Ataxia
Reoperation
Tertiary Care Centers
Orthopedics

Keywords

  • Friedreich's ataxia
  • Scoliosis
  • Spinal instrumentation and fusion

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Surgery
  • Orthopedics and Sports Medicine

Cite this

Friedreich's ataxia and scoliosis : The experience at two institutions. / Milbrandt, Todd A.; Kunes, Justin R.; Karol, Lori A.

In: Journal of Pediatric Orthopaedics, Vol. 28, No. 2, 03.2008, p. 234-238.

Research output: Contribution to journalArticle

Milbrandt, Todd A. ; Kunes, Justin R. ; Karol, Lori A. / Friedreich's ataxia and scoliosis : The experience at two institutions. In: Journal of Pediatric Orthopaedics. 2008 ; Vol. 28, No. 2. pp. 234-238.
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abstract = "PURPOSE: Friedreich's ataxia is a genetically transmitted, progressive spinocerebellar degenerative disease characterized by ataxia. The purpose of this study is to evaluate the demographics, progression, nonoperative, and operative treatment of spinal deformities in patients with Friedreich's ataxia at 2 tertiary pediatric orthopaedic hospitals. METHODS: After institutional review board approval, chart review of Friedreich's ataxia patients identified those having scoliosis. Demographic data, length of follow-up, brace treatment, operative treatment, and complications were determined. Radiographic review was also performed. RESULTS: Seventy-seven patients were identified as having Friedreich's ataxia, of which 49 (63{\%}) were diagnosed with scoliosis. Twenty-seven were male; 22 were female. Mean age at diagnosis of scoliosis was 12.8 years (4.9-20 years). Mean follow-up was 3.7 years (0-13 years).There were 16 (33{\%}) double major curves, with 8 (22{\%}) of the thoracic curves being left sided. Hyperkyphosis was present in 12 (24.5{\%}).Twenty-four (49{\%}) of patients progressed ≥6 degrees. Using a chi-square analysis, there was no association, with a curve magnitude of 10 degrees before the age of 10 years and progression of the curve (P = 0.4386). Ten (20{\%}) patients were treated in braces, with average progression in brace of 15 (0-44) degrees.Sixteen (33{\%}) patients were treated with spinal fusion (15 posterior spinal fusion and 1 anterior spinal fusion). Thirteen (81{\%}) of 16 patients who underwent operative intervention were wheelchair dependent. Somatosensory evoked potentials monitoring was attempted in 11 patients but was effective in only 1. Immediate postoperative correction averaged 49{\%} in the thoracic spine (24{\%}-87{\%}) and 51{\%} in the lumbar spine (26{\%}-82{\%}). This correction decreased to 39{\%} in the thoracic (-22{\%} to 85 {\%}) and 30{\%} in the lumbar spine (-35{\%} to 82{\%}) at final follow-up. The average postoperative follow-up was 3.6 years (2-6.5). One patient (6.2{\%}) developed an infection and was the only patient who underwent reoperation. CONCLUSIONS: Scoliosis in Friedreich's ataxia is common (63{\%}). Curve patterns are variable and do not necessarily resemble idiopathic curves. Although few patients were braced, results were poor. Fusion using modern segmental constructs was effective in creating substantial intraoperative correction and maintaining correction postoperatively. SSEP monitoring was usually ineffective, so preparation for a wake-up test is recommended. SIGNIFICANCE: Patients with Friedreich's ataxia need to be carefully screened for scoliosis and counseled about the high rate of surgical fusion. Using modern implants, correction can be achieved and maintained.",
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N2 - PURPOSE: Friedreich's ataxia is a genetically transmitted, progressive spinocerebellar degenerative disease characterized by ataxia. The purpose of this study is to evaluate the demographics, progression, nonoperative, and operative treatment of spinal deformities in patients with Friedreich's ataxia at 2 tertiary pediatric orthopaedic hospitals. METHODS: After institutional review board approval, chart review of Friedreich's ataxia patients identified those having scoliosis. Demographic data, length of follow-up, brace treatment, operative treatment, and complications were determined. Radiographic review was also performed. RESULTS: Seventy-seven patients were identified as having Friedreich's ataxia, of which 49 (63%) were diagnosed with scoliosis. Twenty-seven were male; 22 were female. Mean age at diagnosis of scoliosis was 12.8 years (4.9-20 years). Mean follow-up was 3.7 years (0-13 years).There were 16 (33%) double major curves, with 8 (22%) of the thoracic curves being left sided. Hyperkyphosis was present in 12 (24.5%).Twenty-four (49%) of patients progressed ≥6 degrees. Using a chi-square analysis, there was no association, with a curve magnitude of 10 degrees before the age of 10 years and progression of the curve (P = 0.4386). Ten (20%) patients were treated in braces, with average progression in brace of 15 (0-44) degrees.Sixteen (33%) patients were treated with spinal fusion (15 posterior spinal fusion and 1 anterior spinal fusion). Thirteen (81%) of 16 patients who underwent operative intervention were wheelchair dependent. Somatosensory evoked potentials monitoring was attempted in 11 patients but was effective in only 1. Immediate postoperative correction averaged 49% in the thoracic spine (24%-87%) and 51% in the lumbar spine (26%-82%). This correction decreased to 39% in the thoracic (-22% to 85 %) and 30% in the lumbar spine (-35% to 82%) at final follow-up. The average postoperative follow-up was 3.6 years (2-6.5). One patient (6.2%) developed an infection and was the only patient who underwent reoperation. CONCLUSIONS: Scoliosis in Friedreich's ataxia is common (63%). Curve patterns are variable and do not necessarily resemble idiopathic curves. Although few patients were braced, results were poor. Fusion using modern segmental constructs was effective in creating substantial intraoperative correction and maintaining correction postoperatively. SSEP monitoring was usually ineffective, so preparation for a wake-up test is recommended. SIGNIFICANCE: Patients with Friedreich's ataxia need to be carefully screened for scoliosis and counseled about the high rate of surgical fusion. Using modern implants, correction can be achieved and maintained.

AB - PURPOSE: Friedreich's ataxia is a genetically transmitted, progressive spinocerebellar degenerative disease characterized by ataxia. The purpose of this study is to evaluate the demographics, progression, nonoperative, and operative treatment of spinal deformities in patients with Friedreich's ataxia at 2 tertiary pediatric orthopaedic hospitals. METHODS: After institutional review board approval, chart review of Friedreich's ataxia patients identified those having scoliosis. Demographic data, length of follow-up, brace treatment, operative treatment, and complications were determined. Radiographic review was also performed. RESULTS: Seventy-seven patients were identified as having Friedreich's ataxia, of which 49 (63%) were diagnosed with scoliosis. Twenty-seven were male; 22 were female. Mean age at diagnosis of scoliosis was 12.8 years (4.9-20 years). Mean follow-up was 3.7 years (0-13 years).There were 16 (33%) double major curves, with 8 (22%) of the thoracic curves being left sided. Hyperkyphosis was present in 12 (24.5%).Twenty-four (49%) of patients progressed ≥6 degrees. Using a chi-square analysis, there was no association, with a curve magnitude of 10 degrees before the age of 10 years and progression of the curve (P = 0.4386). Ten (20%) patients were treated in braces, with average progression in brace of 15 (0-44) degrees.Sixteen (33%) patients were treated with spinal fusion (15 posterior spinal fusion and 1 anterior spinal fusion). Thirteen (81%) of 16 patients who underwent operative intervention were wheelchair dependent. Somatosensory evoked potentials monitoring was attempted in 11 patients but was effective in only 1. Immediate postoperative correction averaged 49% in the thoracic spine (24%-87%) and 51% in the lumbar spine (26%-82%). This correction decreased to 39% in the thoracic (-22% to 85 %) and 30% in the lumbar spine (-35% to 82%) at final follow-up. The average postoperative follow-up was 3.6 years (2-6.5). One patient (6.2%) developed an infection and was the only patient who underwent reoperation. CONCLUSIONS: Scoliosis in Friedreich's ataxia is common (63%). Curve patterns are variable and do not necessarily resemble idiopathic curves. Although few patients were braced, results were poor. Fusion using modern segmental constructs was effective in creating substantial intraoperative correction and maintaining correction postoperatively. SSEP monitoring was usually ineffective, so preparation for a wake-up test is recommended. SIGNIFICANCE: Patients with Friedreich's ataxia need to be carefully screened for scoliosis and counseled about the high rate of surgical fusion. Using modern implants, correction can be achieved and maintained.

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