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Managing Complexity in Rett Syndrome with a Focus on Respiratory Involvement: A Tertiary Center Experience
Adele Corcione1, Luigi Antonio Del Giudice1, Simona Basilicata1
1Department of Translational Medical Sciences, Federico II University, 80131 Naples, Italy.
Children (Basel, Switzerland)
|September 27, 2025
Summary
Children with Rett syndrome (RS) often experience sleep-disordered breathing (SDB) and respiratory infections, which are linked to disease severity. Early respiratory assessments and interventions are vital for improving outcomes in pediatric RS patients.
Area of Science:
- Pediatric Neurology
- Respiratory Medicine
- Genetics
Background:
- Rett syndrome (RS) is a rare neurodevelopmental disorder in females, causing severe neurological impairment and comorbidities.
- Respiratory complications like recurrent infections and sleep-disordered breathing (SDB) significantly increase morbidity in RS.
- This study focuses on major comorbidities in a pediatric cohort with genetically confirmed RS.
Purpose of the Study:
- To evaluate the prevalence and severity of epilepsy, scoliosis, respiratory infections, and SDB in pediatric RS patients.
- To assess the management and clinical outcomes of these comorbidities.
- To explore the relationship between SDB, respiratory infections, and disease severity.
Main Methods:
- Retrospective review of medical records for 23 female patients under 18 with MECP2 mutations.
- Data collection included epilepsy, scoliosis, respiratory infections, and nutritional status.
- Sleep-disordered breathing (SDB) was assessed via overnight polygraphy (oPG) and transcutaneous carbon dioxide monitoring.
Main Results:
- Epilepsy affected 65% of patients; scoliosis was present in 52%.
- Lower respiratory tract infections (LRTIs) occurred in 39%, correlating with hospitalizations and antibiotic use.
- 67% of patients undergoing oPG had obstructive sleep apnea, linked to increased LRTI frequency; three required ventilation for hypercapnia.
Conclusions:
- Sleep-related respiratory disorders are highly prevalent in children with RS and associated with respiratory infections.
- Systematic respiratory assessment, including sleep studies, is crucial for early diagnosis and management.
- Implementing airway clearance techniques and ventilatory support can improve clinical outcomes in pediatric RS.
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