Nutrition is an important but under-discussed aspect of care in Angelman syndrome (AS), according to a case report that described the use of a gastronomy button in a child with the disorder who also had a swallowing dysfunction.
The report was published in Lifestyle Genomics and titled “Nutrition Assessment and Intervention in a Pediatric Patient with Angelman Syndrome: A Case Presentation Highlighting Clinical Challenges and Evidence-Based Solutions.”
Getting proper nutrition is an important part of a healthy lifestyle for everyone, but nutritional concerns are often not considered in Angelman syndrome, even though several symptoms (difficulty swallowing, for instance) can have serious nutritional consequences.
The Academy of Nutrition and Dietetics recognizes the importance of registered dietitians to help with the comprehensive care of those with intellectual and developmental disabilities, including patients with Angelman syndrome.
Because Angelman is not a degenerative disorder, “one of the main benefits in early diagnosis is early therapeutic intervention,” the researchers wrote.
Their report details the case of an Hispanic girl, 11.5 years old, who went to the hospital following concerning weight loss even though she had been on a high-calorie diet, including oral nutritional supplements with fiber, since she was 10. Diagnosed with Angelman at 10 months old, she had the most common form of the disease, which is caused by a deletion in chromosome 15.
The patient was in a wheelchair, unable to walk, and nonverbal. She had a nasogastric tube in place as a consequence of a previously diagnosed swallowing dysfunction.
A nutritional assessment was undertaken. Among the relevant findings, video function swallow studies showed that the patient had difficulty swallowing liquids of various consistencies, as well as solids.
Based on these findings, the team caring for the patient, which included a variety of specialists, including a dietitian and a speech pathologist, recommended against feeding by mouth. Instead, the patient was started on a high-calorie diet administered through a gastronomy button: a tube inserted through the belly that provides nutrition directly to the stomach.
The authors wrote that the patient “was visibly calmer and had gained weight” a month after the placement of the gastronomy button.
Additionally, her parents “reported subjective increases in strength, with more energy for mobility to ‘roll around’ and play, and an improved demeanor at home.”
“Feeding should be monitored closely in children with AS throughout infancy and childhood since feeding difficulties are common,” the researchers wrote. “Weight status should be monitored closely for both underweight and overweight, noting trends common by AS genotype.”
In patients who are orally fed, food diaries may be a viable option to monitor nutrient intake, the researchers said, adding that monitoring hydration is important as well since “almost all are nonverbal and may be unable to adequately express thirst.”
This case report highlights the need for nutrition research in Angelman syndrome, the authors said.
“To our knowledge this is the first case documentation involving nutrition assessment and intervention in a pediatric patient with AS,” they wrote. “To the best of our knowledge, there are no available studies that demonstrate energy needs or expenditure in patients with AS to help guide the design of nutrition interventions.”
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