Prevalence of orthopaedic conditions in Rett syndrome: a systematic review and meta-analysis.
Two-thirds of girls with Rett syndrome develop scoliosis and half have foot deformities, so plan for routine orthopedic care.
01Research in Context
What this study did
The team looked at 21 past studies on girls with Rett syndrome. They wanted hard numbers on how often bone and muscle problems show up.
In total, the studies covered 9,997 girls. The authors pooled the data to find average rates of scoliosis, foot, and hip problems.
What they found
Scoliosis was the clear leader, affecting about two out of every three girls. Foot deformities came next, seen in just over half.
Hip displacement was less common but still important, found in close to three out of ten girls.
How this fits with other research
Stewart et al. (2018) showed that uneven foot pressure predicts walking trouble in Rett syndrome. The new meta-analysis gives the big-picture numbers that back up those early warnings.
Curran et al. (2025) caught tiny motor and communication slips before regression. Together with the high orthopedic rates, this supports watching both movement and bones from the first year.
Almeep et al. (2025) found gait variability in autistic toddlers, while Deserno et al. (2017) saw gait asymmetry in developmental coordination disorder. These studies echo the theme: when neurodevelopmental genes change, gait and posture need routine checks.
Why it matters
You now have population-level proof that most girls with Rett syndrome will face scoliosis or foot problems. Use this to justify regular orthopedic referrals and to explain risks to families. Pair the numbers with the earlier gait findings to start screening posture and weight shift long before walking fails.
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02At a glance
03Original abstract
BACKGROUND: Rett syndrome (RTT), a developmental disorder primarily affecting girls and linked to methyl-CpG binding protein-2 (MECP2) gene mutations, presents musculoskeletal abnormalities with varying prevalence across studies and age groups. Our aim was to delineate the prevalence of orthopaedic conditions in individuals with RTT. METHOD: Three databases were searched and independently screened by two reviewers to retrieve observational studies published after 2000 that recruited 10 or more patients diagnosed with RTT and reported the prevalence of any orthopaedic conditions (scoliosis, hip displacement, knee problems or foot deformities). A random-effects meta-analysis was performed to determine the pooled prevalence based on study weight. RESULTS: Of 867 screened studies, 21 studies involving 9997 girls with RTT (mean age 14.1 years; range, 3-38.5) met the inclusion criteria. The pooled prevalence of scoliosis was 64.5% [95% confidence interval (CI) 55.4-73.6%; I2 = 99%; P < 0.01], of hip displacement was 29.6% (95% CI 8.9-50.2%; I2 = 97%; P < 0.01) and of foot deformities was 53% (95% CI 17.5-89.2%; I2 = 98%; P < 0.01). Knee problems were reported in only one study. Scoliosis prevalence increased in studies with a high percentage of genetic testing and MECP2 positivity [69.1% (95% CI 58.9-79.2%; I2 = 99%; P < 0.01)], those with a mean age over 13 years [73% (95% CI 59.1-87%; I2 = 100%; P < 0.01)], and studies combining both variables [80.13% (95% CI 70.8-89.4%; I2 = 81%; P < 0.01)]. CONCLUSIONS: This meta-analysis found that approximately two in three girls with RTT develop scoliosis, one in two exhibit foot deformities and one in three experience hip displacement. These findings enhance our understanding of the prevalence of orthopaedic conditions in RTT, which can guide the establishment of surveillance protocols, clinical guidelines and management strategies tailored to the needs of RTT patients.
Journal of intellectual disability research : JIDR, 2024 · doi:10.1111/jir.13193