Digestive issues common in Rett patients, long-term study finds
No link found between type of gene mutation, symptom severity
Digestive issues and growth deficits are common and persistent symptoms among classical Rett syndrome patients, according to a long-term study.
No correlation was found between the type of mutation in the MECP2 gene, the chief cause of the disease, and the severity of digestive symptoms, which “emphasizes the need for close gastrointestinal and nutritional follow up, regardless of the patient’s specific genetic mutation,” the researchers wrote.
Their study, “Nutritional and gastrointestinal manifestations in Rett syndrome: long-term follow-up,” was published in the European Journal of Pediatrics.
While Rett syndrome is marked by neurological symptoms, gastrointestinal (GI) manifestations such as gastro-esophageal reflux disease (GERD, or acid reflux), constipation, and bloating are also common. Digestive problems may predispose patients to nutritional deficiencies, affecting their growth.
To assess GI manifestations and nutritional implications of Rett over the long term, the team from Israel analyzed clinical features, laboratory data and genetic information from a large national patient population. Patients were followed from 1991 to 2021.
141 patients followed for 8 years
The analysis covered 141 patients, all but two of them girls, with a median age at the first clinical visit of 3.2. The majority (129 patients) met the clinical criteria for classical Rett syndrome, and 12 had the preserved speech variant of atypical Rett.
Patients were followed for a median of 94.5 months, almost eight years. The most common manifestations at clinical presentation included constipation (47.5%), seizures (43.3%) and impaired breathing (40.4%).
Weight, height and body mass index (BMI, a measure of body fat) Z-scores all significantly worsened during follow-up. Z-scores measure a child ‘s BMI relative to the average for their age and sex.
Twelve patients (8.5%) required gastronomy, or feeding tubes, because of malnutrition or food aspiration. Ten patients (83.3%) underwent surgery for GERD. Body weight taking into account patients’ age significantly improved following gastrostomy, but no marked improvements were observed for height.
During follow-up, 47 patients (33.3%) developed constipation, 24 (17%) had chewing difficulties, and 21 (14.9%) had aerophagia, or excessive air swallowing.
Among the 44 patients with clinical features of GERD, two showed signs of inflammation in the esophagus, the muscular tube that carries food and liquid into the stomach. Gallstones were observed in two other patients, with one undergoing surgery.
During follow-up, the majority of patients (78%) had seizures. Seventy-three percent had abnormal breathing, and 63% had scoliosis, an abnormal curvature of the spine.
These manifestations were significantly linked with constipation and GERD. No link was observed between specific types of mutation and clinical manifestations. GI manifestations were more prevalent in patients with classical Rett syndrome.
Overall, the findings support that “regular monitoring of symptoms, and of weight and growth parameters is important, for early diagnosis of complications, including chewing difficulties and GERD,” the researchers wrote.
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