A nationwide survey of 983 patients with Rett syndrome identifies a high prevalence of GI and nutritional problems (Motil KJ et al. JPGN 2012; 55: 292-98).

Parents from 983 female patients with Rett syndrome responded to the study questionnaire; this was a 59% response rate from the 1666 families in the North American Rett Database.  Patients included those who fulfilled clinical criteria for diagnosis or who had MECP2 gene (methyl-CpG-binding-protein).

Prevalence of GI problems were listed in article’s Table 2 and included the following:

• Gastrointestinal problems 92%
• Feeding problems 81%
• Constipation 80%
• Poor weight gain 38%
• Gastroesophageal reflux 39%

Z-scores for height-for-age, weight-for-age, and BMI are presented for ages 0-40 (see Table 1) -these are all significantly lower than age-matched healthy children.

Important findings:

• Surgical interventions were common: 11% had fundoplication, 28% gastrostomy, 3% and cholecystectomy
• Many gastrointestinal symptoms improved with age.  However, short stature, gastrostomy tube, and bone health issues were more common in older patients.
• Bone fractures are 3- to 4-fold higher than in healthy children

Addtional references:

• -J Pediatr 2010; 156: 135.  Longevity in Rett syndrome –about 1/2 survive to age 40.
• -Ann Neurol 2010; 68: 944-50.  Rett diagnostic criteria
• -JPGN 2007; 45: 582-90.  Growth/feeding issues in Rett syndrome