Sleep Related Breathing Disorder In Children With Dystrophinopathy: A Cross Sectional Study

Background: Young individuals with Duchenne Muscular Dystrophy(DMD) are susceptible to obstructive apnea due to weight gain from inactivity and corticosteroid use. They also experience sleep-related comorbidities like sleep-related breathing disorders, yet there is limited literature on the prevalence of these issues, indicating a crucial gap in understanding and addressing their sleep-related challenges.

Objective: To study the prevalence of SRBD in patients with dystrophinopathies and correlate the severity of SRBD with clinical and laboratory parameters.

Methodology: Children diagnosed with DMD(diagnosed by Multiplex PCR/MLPA/NGS/muscle biopsy) aged 5 to 18 years, and on oral steroids for atleast 6 months were enrolled. Clinical data(6-min-walk test, Brook and Vignos scale) and responses of the Childhood & Adolescent Sleep Evaluation Questionnaire(CASEQ) were recorded. Overnight polysomnography(for Apnoea-Hypopnoea Index(AHI)) was done.

Results: Fifty participants, averaging 10 years, included 29 ambulatory individuals. Following AASM and ICSD-3 guidelines, 72%(95% CI: 57.7 – 82.9) exhibited one or more primary sleep disorders, and 68%(95% CI: 53 – 80.5) were diagnosed with SRBD. No significant correlation emerged between clinical/laboratory parameters and SRBD severity. However, those with SRBD had lower FVC(66.7%) and higher FEV1/FVC ratio(109%) than those without SRBD(FVC: 78.1%, FEV1/FVC: 105.8%) [p<0.01 for both parameters]. CASEQ demonstrated high sensitivity(85.7%) and specificity(78.6%) in detecting any sleep-related disorder, with a positive predictive value of 90.9% and a negative predictive value of 68.8%.

Conclusion: Identifying sleep-related breathing disorders (SRBD) early in dystrophinopathy is crucial for prompt intervention, enhancing life expectancy and quality of life. CASEQ serves as a convenient tool for screening sleep issues in dystrophinopathy.