Study links age, genetic cause to quality of life in Prader-Willi syndrome
Less severe food-related behavioral problems also a factor, researchers say
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In people with Prader-Willi syndrome (PWS), younger age, a disease-causing genetic deletion, and less severe food-related behavioral problems are significantly associated with better health-related quality of life (HRQOL), a Japanese study reports.
“Support during the transition from late adolescence to early adulthood and attention to problematic food-related behaviors may be important for improving the HRQOL of individuals with PWS,” researchers wrote.
The study, “Health-Related Quality of Life and Its Related Factors in Adolescents and Adults With Prader–Willi Syndrome in Japan,” was published in the American Journal of Medical Genetics Part A.
Several types of genetic mutations can cause PWS
Several types of genetic mutations affecting a specific region of the paternal copy of chromosome 15 can cause PWS, a rare, complex disorder. The most common is a chromosomal deletion, where that section of DNA is entirely missing. Another type is maternal uniparental disomy (mUPD), in which a child inherits two copies of the chromosome from their biological mother and none from their father.
PWS can cause a wide variety of symptoms, including excessive hunger (hyperphagia), which can lead to obesity, risky food-seeking behaviors, and problems with metabolism, or how the body uses energy.
“These metabolic abnormalities, together with food-related behavioral and psychiatric symptoms, pose major obstacles to daily functioning and may compromise the quality of life … of individuals with PWS,” the researchers wrote.
However, scientists don’t entirely understand how different symptoms, including hyperphagia, influence HRQOL in PWS. There is also very little available research about PWS HRQOL in Japan.
About one-third of patients had high health-related quality of life
To help address these gaps in the research, a team of researchers collected data from 119 PWS patients, ages 16 and older, who were participating in a Japanese PWS registry. Nearly half (48%) were 20 to 29 years old, while 24% were 16 to 19 years old, 19% were 30 to 39 years old, and 9% were age 40 and older. Most (56%) were overweight to obese.
Chromosomal deletion was the most common genetic cause (73% of patients), followed by mUPD (18%).
Caregivers completed several questionnaires about participants with the condition. These included the EuroQol five-dimension five-level (EQ-5D-5L), a composite HRQOL survey in which higher values indicate better life quality, and the Hyperphagia Questionnaire for Clinical Trials (HQ-CT), which measures hyperphagia-related behavioral problems and higher scores reflect more severe behaviors.
On a scale of 0 to 1, the median overall EQ-5D-5L score was 0.665, suggesting that “HRQOL is generally low among adolescents and adults with PWS,” the team wrote.
Fewer than 5% of caregivers reported no quality of life problems in patients across any of the domains covered by EQ-5D-5L. Most patients had at least mild problems with self-care, participation in usual activities, pain or discomfort, and anxiety or depression.
Based on a predefined cutoff point in EQ-5D-5L scores, about one-third of patients had high HRQOL, while the remaining two-thirds had low HRQOL. The team used statistical analyses adjusted for potential influencing factors to identify factors that affected the likelihood of patients being in the high HRQOL group.
[Results] suggest that clinical care for individuals with PWS may need to be tailored according to developmental stage and genetic subtype, with particular attention to the transition from late adolescence to early adulthood.
Compared with patients in their 20s, those ages 16 to 19 were significantly more likely, by more than 4.5 times, to have better HRQOL. The team hypothesized that participants in their 20s faced unique problems that directly affected quality of life.
“One possible explanation is that changes in the social environment during this transition period may increase psychosocial stress, which could worsen behavioral and mental symptoms and reduce HRQOL,” they wrote.
Chromosome deletion was also significantly associated with a more than 4.5 times greater chance of having better HRQOL, which “may reflect the behavioral and psychiatric characteristics more frequently reported in the mUPD subtype,” the researchers wrote.
In addition, patients with a higher HQ-CT score, indicating more severe hyperphagia-related behavioral problems, were significantly less likely, by 10%, to have better HRQOL. Body mass index (BMI), an indirect measurement of body fat, didn’t appear to be related to HRQOL.
“This suggests that problematic food-related behaviors may be more relevant to HRQOL than BMI category, as they may better reflect the daily behavioral burden of hyperphagia than body weight alone,” the team wrote.
One of the study’s limitations was its reliance on caregiver reports rather than direct self-assessments by participants. Additionally, the results may be specific to the Japanese context.
“The generalizability of the findings may be limited [in] other PWS populations and … settings with different cultural, social, and healthcare systems,” the team wrote.
Despite these limitations, the results “suggest that clinical care for individuals with PWS may need to be tailored according to developmental stage and genetic subtype, with particular attention to the transition from late adolescence to early adulthood,” the researchers concluded. “Further longitudinal studies incorporating patient-reported outcomes are needed to clarify the direction and clinical significance of these associations.”
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