rarerelated tag: Pulmonary/ Respiratory Manifestations

Sleep Breathing Disorders in Pediatric Patients With Spinal Muscular Atrophy 2

Objectives: The study is aimed to analyze both sleep architecture and prevalence of sleep-disordered breathing (SDB), in a group of patients with type 2 spinal muscular atrophy (SMA), considering motor dysfunction, and compare them with age-matched controls.

Methods: Eighteen SMA type 2 patients (nine males median age 9.5 (4–17) years) and eighteen controls (fourteen males, median age 8,5 (1–16) years) underwent nocturnal polysomnography. SMA type 2 patients were evaluated with motor scales; Hammersmith Functional Motor Scale Expanded (HFMSE), Revised upper limb model (ULMR) and Egen Klassification Scale Version 2 (EK2). Parents/tutors completed two pediatric sleep questionnaires (respiratory subscale from Chervin Pediatric Sleep Questionnaire and Bruni’s Sleep Disturbance Scale for Children).

Results: When compared with controls, SMA type 2 patients showed no significant differences in age (9.72 ± 4.2 vs 8.22 ± 3.9 (p = 0.28), gender 9 (9 men (50%) vs 14 (77,8%) (p = 0.083) and nutritional status; Body Mass Index (BMI) (16.4 (12.2–34.8) vs 17.6 (4.4–24.2) (p = 0.83). Apnea Hypopnea Index (AHI) was statistically higher in SMA type 2 patients (6.7 ± 6.2 vs 0.4 ± 0.3) (p < 0.001). The SpO2 mean values in cases were (96% ± 1.4) vs (97.5% ± 1.2) (p = 0.007). TcPCO2 median value (41,5 mmHg; (range 34–47.2) in the SMA type-2 patients within normal reference values. Only one motor scale; Hammersmith Functional Motor Scale Expanded (HFMSE) showed a negative correlation with AHI (r = −0.132).

Conclusions: Patients affected by SMA type 2 presented significantly higher apnea-hypopnea indices than controls; differences in sleep architecture identified include: decreased total sleep time, increased percentage of stage N1 of NREM sleep as well as increased sleep fragmentation seen in the SMA type 2 group, due to respiratory related arousals. We would like to point out that validated pediatric sleep questionnaires in general population, may not be useful tools when screening for SDB in these patients. This should be taken into consideration in clinical practice and in the elaboration of future clinical guidelines for these patients.