Respiratory care in Rett syndrome

Why Respiratory Care Matters in Rett Syndrome

Breathing problems are very common in Rett syndrome. In fact, every person with Rett experiences some kind of irregular breathing—whether it’s during the day, at night, or both.

What Makes Breathing Harder in Rett Syndrome?

Several things can affect how well your child breathes:

Low muscle tone (hypotonia) makes it harder to take deep breaths and cough effectively. This is similar to what we see in other muscle conditions like Duchenne Muscular Dystrophy.

Trouble swallowing and gastroesophageal reflux (GERD)—which affects about 40% of those with Rett—can cause food or stomach acid to enter the lungs. This is called aspiration and can lead to pneumonia or other lung infections.

Scoliosis (curved spine), common between ages 11 and 15, can make breathing more difficult and sometimes delay or prevent surgery unless respiratory care is well managed.

Sleep-related breathing issues, like central or obstructive sleep apnea, affect up to 70% of people with Rett and often need treatment with special breathing support, especially during the teen years.

Heart and Breathing Link

Another concern is the heart rhythm. Many individuals with Rett have a prolonged QT interval, which can be dangerous. It often happens during episodes of hyperventilation or breath-holding—common Rett symptoms.

What You Can Do to Help Your Child Breathe Better and Stay Safer

Proactive care can help prevent serious complications. Here’s what many families find helpful:

✅ Regular Health Checks

• Heart monitoring (ECG) to check for irregular rhythms

• Blood gas tests to see how well oxygen and carbon dioxide are balanced

✅ Support for Eating and Swallowing

• Swallowing assessments to check if it’s safe to eat and drink by mouth

• Enteral (tube) feeding, when needed, to reduce the risk of aspiration

• Reflux management to protect the lungs

✅ Breathing Support

• Sleep studies to find out if breathing changes during sleep

• Non-invasive ventilation (like CPAP or BiPAP) if needed

✅ Spine and Bone Care

• Scoliosis monitoring to plan surgery before breathing is too compromised

• Bone density checks so that if spinal surgery is required, bones are strong enough for surgery to proceed

Why It Matters

Without proper respiratory and medical care, children and adults with Rett are at risk for complications that could have been prevented. In the UK, delayed or missed care has led to avoidable health problems—and even early death—in some cases.

But with the right support and timely interventions, many of these risks can be reduced, and children with Rett can have a better quality of life and longer life expectancy.

Pro forma letter re respiratory referral

Information for clinicians

Respiratory Management of Patients With Neuromuscular Weakness
An American College of Chest Physicians Clinical Practice Guideline and Expert Panel Report (2023)

Pulmonary complications of neuromuscular disease: a respiratory mechanics perspective (2010)

American College of Chest Physicians Consensus Statement on the Respiratory and Related Management of Patients With Duchenne Muscular Dystrophy Undergoing Anesthesia or Sedation (2007)

References 

1. DeFelice, Claudio, Rossi, Marcello, Leoncini, Silvia, Chisci, Glauco, Signorini, Cinzia, Lonetti, Giuseppina, Vannuccini, Laura, Spina, Donatella, Ginori, Alessandro, Iacona, Ingrid, Cortelazzo, Alessio, Pecorelli, Alessandra, Valacchi, Giuseppe, Ciccoli, Lucia, Pizzorusso, Tommaso, Hayek, Joussef, Inflammatory Lung Disease in Rett Syndrome, Mediators of Inflammation, 2014, 560120, 15 pages, 2014. https://doi.org/10.1155/2014/560120 

https://onlinelibrary.wiley.com/doi/10.1155/2014/560120  

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 https://pubmed.ncbi.nlm.nih.gov/26278631/ 

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3. Crosson J, Srivastava S, Bibat GM, Gupta S, Kantipuly A, Smith-Hicks C, Myers SM, Sanyal A, Yenokyan G, Brenner J, Naidu SR. Evaluation of QTc in Rett syndrome: Correlation with age, severity, and genotype. Am J Med Genet A. 2017 Jun;173(6):1495-1501. doi: 10.1002/ajmg.a.38191. Epub 2017 Apr 10. PMID: 28394409; PMCID: PMC5444992.

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4. Leoncini Silvia , Signorini Cinzia , Boasiako Lidia , Scandurra Valeria , Hayek Joussef , Ciccoli Lucia , Rossi Marcello , Canitano Roberto , De Felice Claudio Breathing Abnormalities During Sleep and Wakefulness in Rett Syndrome: Clinical Relevance and Paradoxical Relationship With Circulating Pro-oxidant MarkersFrontiers in Neurology Volume 13 – 2022 DOI=10.3389/fneur.2022.833239ISSN=1664-2295

https://www.frontiersin.org/journals/neurology/articles/10.3389/fneur.2022.833239 

5. Tarquinio DC, Hou W, Neul JL, Kaufmann WE, Glaze DG, Motil KJ, Skinner SA, Lee HS, Percy AK. The Changing Face of Survival in Rett Syndrome and MECP2-Related Disorders. Pediatr Neurol. 2015 Nov;53(5):402-11. doi: 10.1016/j.pediatrneurol.2015.06.003. Epub 2015 Jun 26. PMID: 26278631; PMCID: PMC4609589.

https://pubmed.ncbi.nlm.nih.gov/26278631/