Related Experiment Video

Updated: Oct 9, 2025

Repeated Measurement of Respiratory Muscle Activity and Ventilation in Mouse Models of Neuromuscular Disease
09:24

Repeated Measurement of Respiratory Muscle Activity and Ventilation in Mouse Models of Neuromuscular Disease

Published on: April 17, 2017

13.2K

Sleep breathing disorders in pediatric patients with spinal muscular atrophy 2

Katalina Bertrán1, Oscar Sans Capdevila1, Andrés Nascimiento2

  • 1Sleep Unit, Department of Neurology, Sant Joan de Deu Hospital, Barcelona, Spain.

Sleep Medicine
|December 19, 2021
PubMed

Insights

Patients with spinal muscular atrophy (SMA) type 2 exhibit higher rates of sleep-disordered breathing (SDB) and altered sleep architecture compared to controls. Standard sleep questionnaires may not effectively screen for SDB in this population.

Area of Science:

  • Neurology
  • Pulmonology
  • Sleep Medicine

Background:

  • Spinal muscular atrophy (SMA) type 2 is a severe neuromuscular disorder affecting motor function.
  • Sleep disturbances, including sleep-disordered breathing (SDB), are common in pediatric populations but understudied in SMA type 2.
  • Understanding sleep architecture and SDB prevalence is crucial for managing SMA patients.

Purpose of the Study:

  • To investigate sleep architecture and SDB prevalence in pediatric patients with SMA type 2.
  • To compare sleep parameters between SMA type 2 patients and age-matched controls.
  • To explore the correlation between motor dysfunction and SDB in SMA type 2.

Main Methods:

  • Nocturnal polysomnography was performed on 18 SMA type 2 patients and 18 controls.
  • Motor function was assessed using standardized scales (HFMSE, ULMR, EK2).
  • Pediatric sleep questionnaires were administered to assess sleep disturbances and respiratory symptoms.

Main Results:

  • SMA type 2 patients showed a significantly higher Apnea-Hypopnea Index (AHI) than controls (p < 0.001).
  • Reduced mean SpO2 levels were observed in SMA type 2 patients (p = 0.007).
  • Sleep architecture changes included decreased total sleep time and increased N1/fragmentation due to respiratory arousals.

Conclusions:

  • SMA type 2 patients exhibit significantly higher SDB prevalence and altered sleep patterns.
  • Motor function, specifically HFMSE, showed a weak negative correlation with AHI.
  • Current pediatric sleep questionnaires may be inadequate for SDB screening in SMA type 2 patients.
Abstract

Keywords:
Motor scalesPediatric sleep apneaPediatric sleep questionnairesSMA-2Sleep architecture

More Related Videos

Laryngeal Mask Airway LMA Placement in a Neonatal Patient Simulator Using a Non-Inflatable Supraglottic Airway SGA04:56

Laryngeal Mask Airway LMA Placement in a Neonatal Patient Simulator Using a Non-Inflatable Supraglottic Airway SGA

Published on: July 14, 2023

3.4K
Evaluation of Respiratory Muscle Activation Using Respiratory Motor Control Assessment RMCA in Individuals with Chronic Spinal Cord Injury09:37

Evaluation of Respiratory Muscle Activation Using Respiratory Motor Control Assessment RMCA in Individuals with Chronic Spinal Cord Injury

Published on: July 19, 2013

10.5K

Related Concept Videos

Physical Assessment of the Respiratory Tract II: Inspection01:27

Physical Assessment of the Respiratory Tract II: Inspection

Physical assessment of the respiratory tract through inspection is a crucial step in understanding the patient's respiratory health. It provides insights into the functioning of the respiratory system, the musculoskeletal structure, and even the patient's nutritional status. This comprehensive approach involves observing several vital aspects: chest configuration, breathing patterns, respiratory rates, skin color, and use of accessory muscles.
Chest Configuration
The chest configuration...
453
Sleep Apnea01:21

Sleep Apnea

Sleep apnea is a condition where breathing stops intermittently during sleep, often leading to significant health issues. Each episode can last from 10 to 20 seconds or more and is frequently accompanied by a brief arousal from sleep. This disturbance, largely unnoticed by the individual, can lead to severe daytime fatigue. Commonly, individuals seek help after being informed by their partners about loud snoring and noticeable breathing pauses during sleep.
The condition is more prevalent among...
239
Alterations in Respiration II01:30

Alterations in Respiration II

There are numerous types of normal and abnormal respiration. Based on ventilatory movements, breathing patterns are classified as regular, deep, or shallow. Examples include Biot's breathing, Cheyne-Stokes respiration, Kussmaul's breathing, hyperventilation, and hypoventilation. Each pattern is clinically significant and aids in evaluating patients.
In Biot's breathing, the respiratory rate and depth are irregular, alternating between periods of deep gasping and apnea. Common causes...
1.1K
Respiratory Volumes and Capacities I01:26

Respiratory Volumes and Capacities I

Assessing the respiratory rate and rhythm for a complete minute is crucial for evaluating the breathing pattern. Even a minor increase in the patient's average respiratory rate, by as little as three to five breaths per minute, is an early and vital indicator of respiratory distress. Patients with a respiratory rate exceeding twenty-four breaths per minute require close monitoring to determine the physiological alterations. This careful observation is essential for prompt recognition and...
1.3K
REM Sleep Behavior Disorder01:15

REM Sleep Behavior Disorder

REM Sleep Behavior Disorder (RBD) is a sleep disorder characterized by the absence of muscle paralysis that normally occurs during the REM phase of sleep. This absence allows individuals to physically act out their dreams, which are often vivid and disturbing. Common behaviors exhibited during episodes include kicking, punching, and yelling. These actions can be dangerous, potentially leading to injuries for the person with RBD or their bed partner.
RBD is significantly associated with...
479
Other Pulmonary Disorders01:17

Other Pulmonary Disorders

Respiratory disorders encompass a range of conditions with varying levels of severity. Asthma, marked by chronic airway inflammation and hypersensitivity, is one such condition. It can lead to airway obstruction due to factors like bronchial spasms, mucosal edema, increased mucus secretion, or epithelial damage. Asthma triggers are diverse, ranging from allergens to emotional upset, and treatment focuses on both immediate relief through bronchodilators and long-term inflammation suppression.
936