Gastroenteric / Nervous System

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

Growth and nutrition

  • Poor weight gain, prolonged feeding times, poor fluid intake, chewing and swallowing difficulties.
  • Needs closer monitoring during adolescence when feeding problems can worsen.
  • Height, weight and BMI should be monitored regularly.
  • Growth charts for North American populatons of people with Rett Syndrome are available here
  • Consider NG tube or Gastrostomy (with fundoplication if severe reflux) to supplement oral feeding if needed for weight gain and for adequate fluid intake.
  • It is important not to feed a person with Rett with the aim of getting weight up to population mean for her or his age. Weight should correspond to mean weight for height/Rett specific growth charts. (link under further reading)
  • Overfeeding can lead to obesity or challenges with gut being challenged by too much food intake leading to gut functional problems.
  • Be vigilant about coughing/choking on food and drink. Think aspiration.

Gastroenterology

  • Very poor flow to extremities especially lower leg/feet.
  • Risk of severe chilblains.
  • Very poor flow to extremities especially lower leg/feet.
  • Risk of severe chilblains.
  • Movicol, Lactulose, suppositories may help with constipation as well as natural remedies such as prune juice.
  • Use ARDS guidelines should this occur.

Eating and drinking difficulties Nervous System

  • Dysphagia: Feeding, chewing, swallowing difficulties – length of time to eat, coughing, gagging.
  • Feeding and behavioural strategies; small, frequent and or thickened feeds.
  • Eliminating selected foods from diet.
  • Correct posture is critical for safety and for success with adequate oral nutritional/fluid intake.
  • Good posture could include ‘chin tuck’ achieving a better position of the head to protect the airway.
  • Combined assessment with multi-disciplinary team should take place in order to establish safe posture for effective eating and drinking with on-going support and review.
  • Upright position while eating/elevating bed head to avoid aspiration.
  • Video fluoroscopy, Barium Swallow
  • Consider NG tube or Gastrostomy (with fundoplication if severe reflux)

Reflux
Reflux occurs in 40% of children and adults with Rett Syndrome and must be managed due to the increased risk of aspiration.

Reflux is also more likely if the person has scoliosis (common in Rett) or spends a lot of time in supine position.

  • Pneumonia/RTIs are the leading cause of death in Rett. Families and caregivers should be informed about the dangers of reflux aspiration and the importance of treating this and postural management.
  • Looking for:

    • Regurgitation
    • Sour smelling burps or vomiting
    • Dental erosion
    • Unexplained weight loss
    • Iron deficiency anaemia
    • Food refusal and/or rumination
    • Recurrent lower respiratory tract infections
    • Behaviour problems including agitation
    • Self-harm
    • Screaming
    • Restlessness for no apparent reason
  • Options to test for reflux include: 24 hr oesophageal pH monitoring (with preference for conducting a multi-channel intraluminal impedance study in combination with pH testing).
  • Upper GI endoscopy to assess whether there is reflux oesophagitis and/or gastritis. Radionucleotide scintigraphy to test for aspiration due to reflux.
  • Management: Feeding and behavioural strategies; small, frequent and or thickened feeds.
  • Eliminating selected foods from diet. Upright position whilst eating and for minimum of 30 mins after. Elevate bed head to 45 degrees for patients who are tube fed/receiving fluids over night or in bed.
  • Pharmacological management: Proton pump inhibitors (PPIs, e.g. Lansoprazole, Omeprazole, Pantoprazole) are recommended as the drugs of choice.
  • Prokinetics should be used with extreme caution or avoided in people with Rett syndrome because of their effect in prolonging QT interval. 20% of patients have a prolonged QT as part of Rett Syndrome.

Gallbladder dysfunction/Pancreatitis

  • Pain/discomfort but can be masked.
  • Fever, jaundice and vomiting.
  • Diarrhoea, weight loss.
  • Upper abdominal pain that radiates into the back; it may be aggravated by eating, especially foods high in fat.
  • Swollen and tender abdomen.
  • Nausea and vomiting.
  • Fever.
  • Increased heart rate.
  • Check for cholecystitis, gallstones and gallbladder sludge.
  • After excluding gastroesophageal reflux, gallbladder disease should be considered as a cause of abdominal pain in RTT and cholecystectomy recommended if symptomatic.
  • Physical examination, MRI, CT scan and ultrasound.
  Cardiovascular Nervous System