Feeding challenges for girls with Rett syndrome explored in study
As they get older, the need for assistance with eating typically persists
Girls with Rett syndrome often face challenges when it comes to eating and drinking, according to a 20-year analysis.
Due to limited hand function and difficulties with chewing and swallowing, many are unable to feed themselves or handle a wide variety of foods and liquids. As these girls get older, they typically continue to need help with eating, and many maintain similar food and fluid textures and levels of feeding assistance, the data showed.
“Given the risk of inadequate nutrition, and that optimal nutritional status is undefined in Rett syndrome, there is a need for individualised ongoing clinical assessment of nutritional status and feeding, with a multidisciplinary approach,” researchers wrote.
The long-term study, “Growth, Feeding and Nutrition in Rett Syndrome: Retrospective Audit of Twenty Years’ Experience From an Australian Multidisciplinary Management Clinic,” was published in the Journal of Paediatrics and Child Health.
Study reviewed medical records from a 20-year period
Rett syndrome is a neurodevelopmental genetic disorder that almost exclusively affects girls and becomes apparent between the ages of 6 months to 18 months. Symptoms include difficulties in movement, breathing, learning, speech, and mood.
Feeding difficulties are also common in Rett patients due to chewing and swallowing problems, low tolerance for certain foods, challenges with self-feeding, and gastroesophageal reflux disease (GERD). This can lead to nutritional deficiencies and slower growth, and potentially the use of a feeding tube when food intake by mouth becomes insufficient.
“Assessment of growth and nutrition in [Rett] is complicated by likely reduced growth potential and potentially poor nutritional status due to feeding difficulties, including impaired oromotor and swallowing function,” the researchers wrote.
In this study, a research team at the Children’s Hospital at Westmead in Australia conducted a retrospective review of medical records to examine the growth, feeding, nutrition, and swallowing difficulties of 103 girls with Rett who attended the clinic from 2000 to 2019.
According to the review, Rett girls at the first visit were significantly shorter and weighed less than the standard population based on the standard Centers for Disease Control and Prevention (CDC) growth chart. Compared with Rett growth charts, there was no difference in weight; however, these participants were taller than predicted for their age. As Rett girls aged, they had a larger deficit in height compared with the CDC charts, but not the Rett charts.
Multiple strategies used for eating, drinking
At the first visit, about half (53%) of the participants ate food consistent with a regular diet, and most (83%) drank unmodified (thin) fluids. About half (56%) of these participants required strategies to help consume regular food, and one-third (34%) needed such strategies for fluids.
Participants often employed multiple strategies, including cutting food into bite-sized pieces, consuming more difficult textures at the beginning of a meal to minimize fatigue, using modified drinking vessels, and employing a syringe or spoon for liquids.
Over time, half (51%) of those who attended multiple visits didn’t need food texture modification, while less than half (47%) required a texture downgrade to easier-to-manage foods and/or for a feeding tube. Thickened fluids were needed by about one-third (29%) of the girls, and one in 10 required both food and fluid texture modifications with age.
At the first visit, about one-fifth (21%) could feed themselves independently, but only three of 12 (25%) who made repeat visits maintained this independence. Forty girls (39%) were entirely dependent on others for feeding at the first visit, with two of 32 (6%) who made repeat visits showing a decrease in dependence over time. The level of assistance required was similar across different age groups.
The team found that most of these girls (82%) consumed family food, with two prescribed a ketogenic diet for epilepsy and two with Celiac disease following a gluten-free diet. The most common micronutrient deficiencies were calcium (52%) and iron (18%), which were supplemented. More than half (65%) required laxatives to manage constipation.
A multidisciplinary approach is required to support good nutrition and optimise feeding skills and safety in individuals with [Rett].
Of the 62 participants who received a clinical feeding assessment at one or more visits, more than half (68%) demonstrated oromotor impairments, or difficulties controlling the muscles of the lips, tongue, and jaw. Impairments included spillage of food/fluids, difficulties with chewing, disorganized and/or reduced tongue movement, and problems extracting fluids.
One in four (26%) individuals exhibited signs of impaired swallowing and/or aspiration, which is the unintentional inhalation of food or liquid. This occurred more frequently with fluids than with foods. Aspiration pneumonia, an infection caused by aspiration, was documented in seven cases (6%), and multiple lower respiratory tract infections, suspicious for aspiration, were noted in an additional three cases (3%).
One fourth (23%) had feeding tube placement for various reasons at a mean age of 8 years. Five (20%) were using it for medications, water, and/or venting of abdominal gas. Half used feeding tubes for short feeds, one-fourth for continuous feeds via pump, three used a combination, and two were fed via jejunostomy, an opening in the abdomen. More than half of those with feeding tubes (64%) also maintained oral food intake.
Lastly, seven of the nine patients who had their feeding tube removed gained weight compared with before tube placement.
“A multidisciplinary approach is required to support good nutrition and optimise feeding skills and safety in individuals with [Rett],” the researchers concluded. “Future research into health outcomes, using standardised protocols would be of benefit.”
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