Digestive problems a burden for children, adults with Rett syndrome

Managing GI manifestations not considered priority treatment goal

Margarida Maia, PhD avatar

by Margarida Maia, PhD |

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Up to nearly half of children and adults with Rett syndrome in the U.S. have digestive problems, resulting in added medical costs that average more than $4,400 per patient each year, a study finds.

While gastrointestinal (GI) manifestations appear to represent a great burden for patients, only a small percentage of physicians consider managing digestive problems among the top five treatment goals in the condition.

“It is possible to proactively address GI manifestations as part of current routine care, although management of GI symptoms remains underrepresented as a RTT [Rett syndrome] treatment goal among treating physicians,” the researchers wrote in “Gastrointestinal manifestations in pediatric and adult patients with Rett syndrome: an analysis of US claims and physician survey data,” which was published in the Journal of Comparative Effectiveness Research.

In Rett syndrome, digestive problems such as gastro-esophageal reflux disease (GERD), constipation, and abdominal bloating may occur due to low muscle tone and limited movement or to damage to the nerve cells that control the bowel and its actions.

Here, researchers reviewed data from the insurance claims of 3,078 (51.8%) girls and 2,862 (48.2%) women to learn how common digestive problems are for children and adults with Rett syndrome. The patients’ mean age at their index date, the date of the first observed diagnosis, was 20.

Among 5,940 patients, 2,554 (43%) had GI manifestations. The most common were constipation (26%), GERD (18.2%), vomiting or spitting up food (10.7%), and diarrhea (5.7%).

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 Digestive problems and medical costs

The mean medical costs of managing GI manifestations amounted to $4,473 per patient each year. Managing GERD, or chronic (long-lasting) stomach acid reflux, accounted for more than half the total medical costs ($2,630 per patient).

Digestive problems were slightly more common in children than adults (45.6% vs. 40.2%) and the yearly medical costs were higher for children (mean, $5,530 vs. $3,341 per patient).

The researchers also surveyed 100 physicians, 51 neurologists and 49 pediatricians. In the previous two years, neurologists treated a mean of 10.8 people with Rett syndrome, whereas pediatricians had treated a mean of 2.5 patients.

Up to 42.3% of neurologists observed constipation in more than one-quarter of their patients younger than 20, and 37.8% observed it in more than one-quarter of those aged 20 or older. For pediatricians, the proportions were 60% and 33.3%, respectively. Despite being common, managing digestive problems was ranked among the five most important treatment goals by only three (5.9%) neurologists and four (8.2%) pediatricians.

“Insurance claims data and physician perspectives suggest that both pediatric and adult patients with RTT experience a high burden of GI manifestations, which translate to important medical costs,” said the researchers said, who noted “despite the considerable clinical and financial burden of GI manifestations in RTT, management of GI manifestations remains underrepresented.”