Gastrointestinal dysmotility in Rett syndrome
Article title
Baikie, G., Ravikumara, M., Downs, J., Naseem, N., Wong, K., Percy, A., Lane, J., Weiss, B., Ellaway, C., Bathgate, K., & Leonard, H. (2014). Gastrointestinal dysmotility in Rett syndrome. JPGN, 58(2), 237-44. Download snapshot, see article abstract.
Background
Disorders of gastrointestinal (GI) motility [movement of food through the body] are common in Rett syndrome and can severely impact quality of life. Little is known about their management in Rett syndrome.
What we did
We reviewed the evidence in the literature and also family concerns expressed over a 15-month period in postings on RettNet, to explore firsthand perspectives on the girls' GI issues. We then worked with an international expert panel of clinicians and researchers to develop recommendations for the assessment and clinical management of a range of GI disorders in Rett syndrome including gastroesophageal reflux disease (GERD), constipation, and abdominal bloating.
What we found
A comprehensive approach to the assessment of GERD, constipation, and abdominal bloating was recommended, taking into account the difficulties with communication in Rett syndrome. A stepwise approach to the management of GI issues was identified with initial use of conservative strategies, escalating to pharmacological measures and surgery, if necessary.
GERD
Many clinicians recommended that conservative strategies (eg, small frequent feeds, thickened feeds, use of more upright postures during activities) be tried first, and all recommended that conservative strategies be used in combination with medicines for GERD. If medicines were needed, clinicians often prescribed medicines to decrease the acid produced in the stomach. As a second option, some prescribed medicines that increased muscle contraction in the GI tract and moved food along more quickly, if these medicines were appropriate for the individual. Surgical fundoplication of the stomach was recommended if control of GERD could not be achieved with medicines.
Constipation
Recommended management included additional fluid intake, a balanced high fibre diet, physical activity as possible, and regular toileting. If these strategies were not enough, laxatives should be used. When oral agents were insufficient, suppositories and enemas were advised. Surgical disimpaction was recommended for individuals who develop symptoms of bowel obstruction or are resistant to other treatments.
Abdominal bloating
Pharmacological treatments can be tried but their effectiveness is not known. A gastrostomy may be considered for release of air. If the abdomen is very sore or tense, your doctor may request more extensive tests.
What it means
These guidelines have the potential to improve care of GI issues and stimulate research to improve the present limited evidence base. The guidelines are not prescriptive and each clinician needs to make a judgment as to the extent to which the statement applies to each individual patient. We have developed the recommendations in to a booklet for families which is available on our website.