Related Experiment Video
Updated: Jun 26, 2025
Author Spotlight: Advancing Pathogen Detection and Disease Assessment in Real-Time Using M-ROSE
Published on: March 1, 2024
Management of respiratory issues in patients with Rett syndrome: Italian experts' consensus using a Delphi approach
Claudio Cherchi1, Elena Chiappini2,3, Alessandro Amaddeo4
1Pediatric Pulmonology and Cystic Fibrosis Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
Insights
Early intervention for respiratory issues is crucial for Rett Syndrome (RS) patients. This consensus reinforces management strategies for breathing problems, including ventilation and physiotherapy, to improve clinical practice.
Area of Science:
- Neurology
- Pulmonology
- Genetics
Background:
- Rett Syndrome (RS) management guidelines exist, but respiratory issues remain a key concern.
- Fundamental topics in RS care, particularly respiratory problems, require further clarification.
Purpose of the Study:
- To identify and reinforce current recommendations for managing respiratory issues in Rett Syndrome patients.
- To provide expert consensus on the optimal approach to respiratory care in RS.
Main Methods:
- A Delphi approach was employed, involving literature review and 14 expert-formulated statements.
- A multidisciplinary panel of 29 experts rated agreement on a 1-5 scale, with 75% consensus required.
- Multiple rounds of scoring were conducted to achieve consensus.
Main Results:
- Respiratory issues in all Rett Syndrome types should be addressed early, irrespective of epilepsy onset.
- Periodic sleep studies are recommended for Congenital RS and selected cases of other RS types.
- Noninvasive ventilation, chest physiotherapy, and individualized scoliosis programs are advised. Gastrostomy may be considered for patients at risk of aspiration pneumonia.
Conclusions:
- This expert consensus provides practical support for clinicians managing respiratory problems in Rett Syndrome patients.
- The findings complement existing regulatory agency recommendations and guidelines for RS care.
Background:
Despite the publication of the 2020 guidelines on how to manage Rett Syndrome (RS), some fundamental topics are still open, in particular respiratory problems.
Objective:
Identification and reinforcement of current recommendations concerning the management of respiratory issues in RS patients.
Materials And Methods:
Using a Delphi approach, the leading group reviewed the literature and formulated 14 statements. A multidisciplinary panel of 29 experts were invited to score, for each statement, their agreement on a 1-5 scale. The cut-off level for consensus was 75%, obtained through multiple rounds.
Results:
The panel agreed that in all RS types, respiratory issues should be faced at an early stage, regardless of epilepsy onset. It is recommended to perform periodically sleep studies in all Congenital Rett Syndrome, and in selected cases with other RS types. Noninvasive ventilation should be considered in all RS subjects with sleep respiratory disorders and in those with hypotonia associated with hypercapnia. Chest physiotherapy should be performed in all RS patients with difficult management of the accumulation of respiratory secretions, using airway clearance techniques and devices (PEP-mask, AMBU bag, or cough machine), more appropriate and tolerated by the patients. The panel recommended individualized programs for the management of scoliosis, and to consider performing gastrostomy in patients at increased risk of ab ingestis pneumonia.
Conclusions:
This consensus could support everyday clinical practice on respiratory issues in RS patients, complementary to existing recommendations by regulatory agencies and guidelines.
Related Concept Videos
01:29Acute Respiratory Failure-V
Ensure that patients are monitored continuously for their response to therapy, including changes in...
01:30Acute Respiratory Failure-III
01:30Chronic Obstructive Pulmonary Disease-V: Nursing Management
Assessment
01:19Respiratory Assessment: Purpose and Indications
Objectives and Importance:
The primary goal of respiratory assessment is to evaluate patients at early risk of clinical deterioration. Since respiratory distress often precedes other signs of declining health, breathing patterns and sounds become a...
01:29Chronic Obstructive Pulmonary Disease-V: Management
Smoking Cessation
01:23Assessment of Respiration
Subjective Assessment: Nurses interview the patient to gather information directly during the subjective assessment. It includes questions about the individual's medical history, medications, and symptoms, focusing on past respiratory conditions like...