Nutrition monitoring may help patients keep healthy weight: Study
Children with FA often underweight, while adults tend to be too heavy
Children with Friedreich’s ataxia are often underweight and short for their age, while adult patients are frequently overweight, so regular nutrition checks are important for maintaining healthy weight, a study from Europe suggested.
The study, “Longitudinal analysis of anthropometric measures over 5 years in patients with Friedreich ataxia in the EFACTS natural history study,” was published in the European Journal of Neurology by an international team of researchers.
Friedreich’s ataxia is caused mainly by mutations, called GAA repeats, in the FXN gene. This gene codes for frataxin, a protein needed for the healthy functioning of mitochondria, the bean-shaped structures that produce the energy cells use to run their activities.
When children with Friedreich’s ataxia are underweight, it can delay puberty and cause loss of muscle mass, fatigue, and depression. Adults, on the other hand, may be overweight because difficulty walking may make them adopt a sedentary lifestyle, which may increase the risk of heart disease and diabetes.
The researchers drew on data from the European Friedreich’s Ataxia Consortium for Translational Studies (EFACTS) registry to look at how patients’ weight changes over time and whether these changes affect how quickly the disease worsens.
Finding patterns in data
They collected information about height and weight from 602 patients (59 children and 543 adults) for up to five years. Friedreich’s ataxia may cause skeletal problems like scoliosis (an abnormally curved spine), so the researchers adjusted height measurements to make sure the results were accurate.
The children’s median age was 14, and they had had Friedreich’s ataxia for a median of six years. While most children (65%) were of normal weight, nearly one-third were underweight (7%) or severely underweight (26%). Severe underweight was defined as being lighter than 97% of children of the same age.
Many children (39%) were shorter than usual for their age, including nine (16%) with severe short stature, that is, shorter than 97% of children. Their body mass index (BMI), a measure of body fat, stayed mostly the same over time, but decreased in nearly half (48%) over one year and in nearly two-thirds (63%) over four years, more than what’s common for children in the general population.
In adults, the pattern was different, with 94 (19%) being overweight and 30 (6%) obese. Their BMI increased over time. Adults with longer expansions of GAA repeats, usually linked to earlier onset of symptoms and more severe disease, tended to have lower BMI.
One of the main questions the researchers had was whether weight gain or weight loss affects how fast the disease gets worse. The results showed that in adults, weight changes did not seem to make a difference in how fast the disease progressed.
Overall, the study found that underweight and short stature are common in children with Friedreich’s ataxia, while adults are more likely to be overweight. Because of this, “early interventions to address underweight in children and promote healthy weight management in adults are crucial,” the researchers wrote.
Some weight measurements were missing, especially for non-ambulatory patients (those who couldn’t walk), likely because weighing them is difficult. In some cases, weight may have been estimated instead of measured with a scale. “To achieve accurate weight measurements, particularly in non-ambulatory patients, staff training is paramount,” the scientists wrote.
“Our results underscore the importance of a comprehensive care approach for individuals with [Friedreich’s] ataxia, emphasizing the necessity for ongoing monitoring of nutritional and physical status,” the researchers wrote.
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