Respiratory / Nervous System

Symptoms What to look for/be aware of Investigation & treatment and/or referral pathway Further reading

Autonomic Dysregulation - Breathing Difficulties

  • Central: Apnoea/breath holding, air gulping leading to abdominal distension (may lead to pseudo-obstruction).
  • Hyperventilation and breathing holding typical of 'forceful breathers'
  • Feeble Breathing
  • Valsava Manoeuvre
  • Peripheral: Bronchoconstriction is not part of Rett Syndrome - think Asthma! Use bronchodilators as per usual asthma treatment guidance.
  • Identify breathing type through full autonomic assessment with sleep study, video telemetry and EEG. Request advice to anaesthetists with specific reference to breathing irregularity identified. (People with Rett Syndrome of all ages often undergo emergency/planned surgeries).
  • Hypotonia arising from treatment for other complications of Rett Syndrome may lead to reduced intercostal muscle tone.
  • Full autonomic assessment to ascertain breathing type and treat accordingly.
  • Buspirone may be helpful for some forceful breathers.
  • Acetazolamide has been used in children with apnoeas.
  • Feeble breathers often need oxygen support overnight.
  • For autonomic assessment refer to: Dr Adrian Kendrick, Consultant Clinical Scientist, Department of Respiratory Medicine, University Hospitals, Bristol.

Aspiration (The accidental inhalation of food, fluid or reflux into the lungs)

  • - Arching or stiffening of the body during feeding
  • - Irritability or lack of alertness during feeding
  • - Refusing food or liquid
  • - Failure to accept different textures of food
  • - Long feeding times
  • - Difficulty chewing
  • - Difficulty swallowing
  • - Difficulty breast feeding in infants
  • Coughing or gagging during meals
  • - Excessive drooling or food/liquid coming out of mouth or nose
  • - Difficulty co-ordinating breathing with eating and drinking
  • - Increased stuffiness during meals
  • - Gurgly, hoarse or breathy voice quality
  • - Frequent spitting up or vomiting
  • - Recurring pneumonia or respiratory infections
  • - Less than normal weight gain or growth
  • Lower respiratory tract infection is the most common cause of death in Rett Syndrome. Prevention of chest infections is key to longevity in patients with Rett.
  • Comprehensive multi-disciplinary feeding assessment to ensure correct posture for eating and drinking will help avoid aspiration.
  • Video-fluroscopy/barium swallow if aspiration or unsafe swallow is suspected.
  • Check for reflux symptoms and address actively
  • Inform carers of precautionary steps:
  • Maintain 45 degree positioning during meals/eating/drinking/tube feeding and for 30 mins after.
  • Minimal distraction during meal times.
  • Enable patient to control speed of meal.
  • Good oral hygiene, including teeth brushing and clearing mouth including pockets of mouth and leftover food around the mouth and lips.

Silent aspiration

  • While overt aspiration can cause sudden noticeable symptoms, in silent aspiration, there is no coughing or clearing.
  • - Red watery eyes
  • - Colour changes to skin around the eyes
  • - Drooling
  • - Changes in breathing/voice
  • - Splayed hands in younger children

Chest infections/Pneumonia

  • Prevention of chest infections is the key to the longevity of patients with Rett.
  • Early management of active infections leads to better outcomes for this patient population.
  • Annual flu vaccination for patient and carers.
  • PPV/Pneumovax for patients over the age of 2 becuase of long-term respiratory issues and poor immune system. A second dose may not be necessary.
  • Input from respiratory consultant.
  • Regular checks by specialist chest physio.

Preventative strategies

  • Regular chest infections, swallowing difficulties, aspiration
  • Increased secretions
  • If coughing becomes unusually frequent, observe carefully and take temperature regularly.
  • Use of prophylactic antibiotic during winter months may be useful.
  • Daily mucodyne (carbocysteine) to keep secretions more fluid and easier to cough up.
  • If temerature is raised, the patient appears unwell and or secretions are difficult to clear, notify GP and chest physio immediately.

Managing active infections

  • Raised temperature
  • Increased secretions
  • Generally unwell
  • Emergency antibiotics specifically for active chest infections can be stored at home for immediate use in line with the individual patient’s specified respiratory protocol, in order to avoid inevitable delays.
  • If chest infection is confirmed, stop prophylactic antibiotics if in place and start rescue anti-biotics immediately.
  • Increase dose of Mucodyne as appropriate.
  • Use of nebuliser for saline or salbutamol inhalation as needed
  • Ensure regular position changes with alternate side lying particularly during the night.
  • Sitting upright whenever possible to assist breathing.
  • Chest physio by physiotherapist and trained staff.
  • Monitor closely for any signs of deterioration, taking temperature regularly until condition improves.
  • If there is a marked deterioration, do not hesitate to take emergency action (call 111/999).

Sleep disturbance

  • Initial insomnia, nightmares, night terrors, nocturnal screaming/laughing
  • Obstructive central sleep apnea.
  • Basic sleep hygiene measures should be implemented.
  • Parents/carers to record videos of breathing and sleep patterns to effectively highlight issues to sleep teams.
  • Melatonin can be trialled in a general setting. A low dose of Clonidine can be used as a second line.
  • Refer for full polysomnography to identify the route of the night time awakening.
  • CPCP for Obstructive Sleep Apeoa NIV for OSA/CSA as appropriate and based on outcome of polysomnography
  • These treatments should be tried before or in conjunction with drug therapy
  • Avoid benzodiazepines, promethazine, chloral hydrate – may risk autonomic instability.
  • Chloral hydrate use is to be discouraged and should only be used for the primary purpose of sleep induction under exceptional circumstances on a short-term basis, and under direct expert guidance.
  • In children aged 2-11 years treatment with Chloral hydrate should be as an adjunct to behavioural therapy and sleep hygiene management, and usually for duration of less than 2 weeks.
  • Refer to Cerebra Sleep Service, a free service for families.