Gastrointestinal, eating problems found to be common in Dravet
Patients with SCN1A gene mutations more likely to be affected: Study
People with Dravet syndrome due to mutations in the SCN1A gene are more frequently affected by gastrointestinal and eating problems than those with other SCN1A-associated disorders, according to a study from the Netherlands.
More than three-quarters of Dravet patients were reported to be experiencing two or more such issues, compared with one-quarter of those with other conditions. The Dravet group also was more commonly affected by a greater number of gastrointestinal and eating problems, which were reported to greatly affect daily life.
In addition, Dravet patients with reduced mobility or severe behavioral problems, and those using more than three anti-seizure medications, were seen to experience significantly more problems.
“Frequent assessment of symptoms by treating physicians can promote early detection of gastrointestinal and eating problems and enable a timely referral to a speech therapist, behavioral expert, or dietitian, if necessary, with the ultimate aim to decrease the impact on quality of life,” the researchers wrote.
The study, “Gastrointestinal and eating problems in SCN1A-related seizure disorders,” was published in the journal Epilepsy & Behavior.
Analysis of gastrointestinal and eating problems lacking in Dravet
Mutations in the SCN1A gene are the most common genetic cause of a wide group of seizure-related disorders. These range from mild febrile, or fever-related, seizures to the most severe condition of the spectrum, Dravet syndrome.
Besides the disease’s known neurological symptoms, including seizures and delays in speech development, Dravet patients can develop gastrointestinal and eating problems.
“Aspects such as neurodevelopmental deficits including intellectual disability, impaired mobility, behavioral problems, use of anti-seizure medication (ASM), or a ketogenic diet [one low in carbohydrates and high in fat] may contribute to the occurrence of symptoms, such as dysphagia [swallowing difficulties], constipation, and a decrease in food tolerance,” the researchers wrote.
However, a “comprehensive analysis of gastrointestinal and eating problems in SCN1A-related disorders and their causes … is lacking,” the team wrote.
Now, scientists at the University Medical Center Utrecht and their colleagues assessed the frequency and features of gastrointestinal and eating problems in patients, ages 2 and older, with Dravet or other SCN1A-related seizure disorders.
Gastrointestinal and eating problems were assessed via a questionnaire developed by the researchers together with a specialized dietitian and two specialized speech therapists. Symptoms were classified in three categories: dysphagia-related symptoms, behavioral symptoms, and gastrointestinal symptoms.
Data from medical records and questionnaires — completed either by patients or their caregivers between October 2021 and December 2022 — were available for 118 people with Dravet and 51 with other conditions. Among the Dravet patients, 49.2% were women or girls, while 64.7% of those with other conditions were female individuals.
The Dravet patients’ median age was 17 years (range, 2-53 years), while that of the other group was markedly higher, at 23 years (range, 5-73 years). Also, daily to weekly seizures were considerably more frequent in the Dravet group (67.8% vs. 2%), as was the proportion of patients on three or more anti-seizure medications (75.9% vs. 4%).
Most patients seen to experience 2 or more gastrointestinal, eating symptoms
The results showed that the majority of Dravet patients’ parents (87.2%) reported two or more gastrointestinal and eating symptoms, compared with 25.5% of those with other SCN1A-related seizure disorders. Also, a greater proportion of patients in the Dravet group experienced at least four symptoms relative to those in the other group (50.5% vs. 3.9%).
Nearly half (49.2%) of Dravet patients were experiencing such problems at the time of the study, compared with 5.9% of those in the non-Dravet group.
In the Dravet group, drooling was the most common dysphagia-related symptom (60.7%), being distracted during meals the most prevalent behavioral symptom (61.4%), and constipation and loss of appetite the most frequent gastrointestinal symptoms (50.4% each). The researchers noted that drooling and distraction during meals occurred weekly or more frequently in more than 40% of Dravet patients.
In the non-Dravet group, the most frequent symptoms were loss of appetite (21.6%), constipation (18%), and being distracted during mealtimes (20%).
Compared with patients with other SCN1A-related seizure disorders, Dravet patients more commonly had temper tantrums during mealtime (23.5% vs 5%) and were more frequent picky eaters (44.9% vs 15.7%).
Feeding by a gastric tube, which is connected directly into the abdomen, was used by 17.8% of Dravet patients. A total of 26 Dravet patients (22%) currently or previously followed a ketogenic diet, and three of them developed gastrointestinal and eating issues during the diet.
Gastrointestinal or eating problems were reported to have a significant impact on daily life for 49.2% of the Dravet patients and 33.3% of those in the non-Dravet group with a such issues.
Gastrointestinal and eating problems are common in patients with [Dravet syndrome] and can pose a heavy burden on patients and caregivers. … Clarifying the causes of these problems and their association with core features of DS will improve the identification of patients at risk for gastrointestinal and eating problems.
A dietitian was involved in the care of one-third of Dravet patients (32.6%), but none of those in the other group. Speech therapy was more common among Dravet patients, but not focused on swallowing or chewing difficulties.
The researchers then used statistical analyses adjusted for potential influencing factors to evaluate potential links between core features of Dravet syndrome and the burden of gastrointestinal and eating problems.
They found that using a wheelchair or a walker for a distance of 500 meters (about 1,640 feet) or taking more than three anti-seizure medications were significantly associated with a threefold higher chance of having more gastrointestinal and eating problems.
Patients with behavioral problems in the clinical range also were three times more likely to experience a greater number of behavioral symptoms of gastrointestinal and eating problems. In turn, those experiencing seizures at an annual frequency were significantly more likely to have fewer of these symptoms relative to those with daily seizures.
Overall, “gastrointestinal and eating problems are common in patients with [Dravet syndrome] and can pose a heavy burden on patients and caregivers,” the researchers wrote. “Clarifying the causes of these problems and their association with core features of DS will improve the identification of patients at risk for gastrointestinal and eating problems.”
About the Author
