Hip Displacement in MECP2 Disorders: Prevalence and Risk Factors.

ABSTRACT

BACKGROUND: Methyl-CpG binding protein 2 (MECP2) disorders, including Rett syndrome and MECP2 duplication syndrome, are typified by profound intellectual disability, spasticity, and decline in gross motor function. Unlike scoliosis, linked to disease severity, little has been reported regarding the hip. The aim of this study was to report the prevalence and risk factors of hip displacement (HD) in MECP2 disorders. METHODS: This was a retrospective, comparative study. Children with a genetically confirmed MECP2 disorder were included. The primary outcome measure was the prevalence of HD (migration percentage>30%). Secondary outcomes included age at HD onset, ambulatory status, presence of clinically relevant scoliosis, genetic severity, presence of seizures, and associated comorbidities. Analysis of proportions of categorical variables was performed using χ2 testing (P=0.05). RESULTS: Fifty-six patients (54 Rett syndrome and 2 MECP2 duplication syndrome), diagnosed at 6.6 (SD 4.7) years, met the inclusion criteria. The prevalence of HD was 36% [onset, 7.7 (SD 3.8) y]. Risk factors for HD were nonwalker status (P=0.04), scoliosis (P=0.001), and refractory epilepsy (P=0.04). CONCLUSIONS: The prevalence of HD in MECP2 disorders is comparable to cerebral palsy, associated with proxy measures of disease severity. These results can be used to develop hip surveillance programs for MECP2 disorders, allowing for timely management. LEVEL OF EVIDENCE Level III.