Table 3.

Detailed approaches to management and therapy for RTT: gastroenterology and nutrition

System/area	Common concerns and questions	Details and suggested approach	References
Gastroenterology and nutrition	Dysmotility	Abdominal pain and discomfort typically are caused by reflux, gas bloating, delayed stomach emptying, biliary tract disease or constipation; these can be empirically diagnosed and managed (see entries below). These will present with abdominal fullness (gas or constipation), irritability (reflux or constipation), nocturnal arousals (reflux or constipation), arching (reflux), overt reflux or emesis, and burping (reflux or air swallowing). Gall bladder dysfunction, screened by abdominal ultrasound, should be considered. Referral to surgery for cholecystectomy may be necessary for symptomatic gallstones or biliary dyskinesia.	37 38 40 72
	Constipation	This is a very common problem. Laxatives (polyethylene glycol, magnesium hydroxide, glycerin or bisacodyl suppositories) are often part of long-term treatment with a goal of one soft bowel movement per day.	37 40
	Reflux	This is a very common problem. Proton pump inhibitor or H2 blockers are used empirically. Referral to gastroenterologist may be necessary to rule out complications such as oesophagitis, ulcer, strictures or Barrett’s oesophagus.	37 40
	Poor weight gain	Fatigue and irritability may be signs that dietary requirements are not being met; consider energy dense foods (oils, syrups, avocado), and gastroenterologist and nutrition consults. Gastrostomy button may be needed to maintain growth; counsel families that use of a gastrostomy button does not preclude oral feeding as long as oral feeding is safe. Use CDC/WHO growth charts to track growth and try to keep at same BMI percentile on growth curve through adolescent growth spurt. RTT-specific growth charts are also available.	37–39 95 96
	Calcium/vitamin D	Ensure supplemental vitamin D intake: 600–1000 IU or more daily. Target serum levels of 25-OH-vitamin D greater than 30–40 ng/mL. Ensure milk and dairy products to provide age-appropriate dietary calcium intake: 1–3 years, 700 mg/day; 4–8 years, 1000 mg/day; 9–18 years, 1300 mg/days; 19 years and older, 1000 mg/day. 240 mL (8 oz) of milk or 240 mL (8 oz) of yoghurt contains 300 mg of calcium.	77–79See: 97
	Prolonged feeding times	Long feeding times (more than 30 min) can affect quality of life for patient and family; this may be an indication that a gastrostomy button is needed.	64 96 See: 98
	Chewing/swallowing difficulties	Referral to appropriate therapist or gastroenterologist to assess if there is concern for aspiration (coughing, choking, gagging with feeding or aspiration, or unexplained pneumonia). In some cases, thickeners for liquids may be helpful to prevent aspiration versus need for a gastrostomy button.	37 38

References not specific to RTT noted as ’See’.

BMI, body mass index; CDC, Centers for Disease Control and Prevention; RTT, Rett syndrome.