Profiling scoliosis in Rett syndrome.

Abstract:

:To understand scoliosis, related comorbidities, and phenotype-genotype correlations in individuals with Rett syndrome (RTT), the Rare Disease Clinical Research Network database for RTT was probed. Clinical evaluations included a detailed history and physical examination, comprehensive anthropometric measurements, and two quantitative measures of clinical status, Clinical Severity Scale (CSS) and motor-behavioral analysis (MBA). All data were exported to the Data Technology Coordinating Center (DTCC) at the University of South Florida. Scoliosis assessment was based on direct examination and curvature measurements by radiography (Cobb angle). Statistical analyses included univariate and multiple logistic regression models, adjusting for age at enrollment or mutation type. Scoliosis data were available from 554 classic RTT participants, mean age = 10 y (0-57 y). Scoliosis was noted in 292 (53%); mean age = 15 y with scoliosis and 6 y without. Using multiple regression analysis, MBA severity score, later acquisition, loss or absent walking, and constipation were associated with scoliosis. Two common methyl-CpG-binding protein 2 (MECP2) mutations, R294X and R306C, had reduced risk for scoliosis. These findings corroborated previous reports on scoliosis and extended understanding of comorbidities, clinical severity, and relative risk reduction for specific mutations. Clinical trial design should account for scoliosis and related factors judiciously.

journal_name

Pediatr Res

journal_title

Pediatric research

authors

Percy AK,Lee HS,Neul JL,Lane JB,Skinner SA,Geerts SP,Annese F,Graham J,McNair L,Motil KJ,Barrish JO,Glaze DG

doi

10.1203/PDR.0b013e3181d0187f

subject

Has Abstract

pub_date

2010-04-01 00:00:00

pages

435-9

issue

4

eissn

0031-3998

issn

1530-0447

journal_volume

67

pub_type

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