Researchers Call for Continued Multidisciplinary Care Through Adulthood in Prader-Willi Syndrome

The combination of growth hormone treatment (GHT) and multidisciplinary care (GHMDC) has been shown in a new study to result in significantly better health outcomes among adults with Prader-Willi syndrome (PWS) who received this care combination throughout childhood. As a result, such a treatment regimen should be continued once individuals with PWS reach adult age, according to new study results published in Journal of Clinical Medicine.

There is a high mortality rate among children and adults with PWS, with their hypothalamic dysfunction also often associated with hyperphagia, pituitary hormone deficiencies, abnormal temperature regulation, and inadequate pain registration. Additional somatic and psychosocial factors associated with PWS include musculoskeletal problems, low basal metabolic rate, behavioral challenges, biochemical anomalies, and cardiovascular risk factors (eg, obesity, hypertension, type 2 diabetes [T2D]). GHT has been shown to improve many of these, the authors of this investigation noted.

“GHMDC has greatly improved the health of children with PWS,” the authors wrote. “However, little is known about the effects of childhood GHMDC on health outcomes in adulthood.”

The 109 patients (n = 53, male; 56, female; median age, 28 [range, 18-72] years; median body mass index [BMI], 29 kg/m²) included in the final study analysis received outpatient care at the Dutch Centre of Reference for Prader-Willi Syndrome in Rotterdam, The Netherlands, between January 2015 and January 2021, and they were divided into 3 groups for this analysis:

• Received GHMDC from childhood to adulthood (GHMDC+ group; n = 39)
• Never received GHMDC (GHMDC– group; n = 63)
• Received GHMDC during childhood, but it was discontinued before adulthood (GHMDC+ group; n = 7)

Overall, patient screening showed a 74-percentage-point difference in those who reported at least 1 undetected health problem between the GHMDC+ (10%) and GHMDC– (84%) groups. In addition, any health problems in the GHMDC+ group developed between the final pediatric and first adult-care visits and did not require medical intervention, and no one in the GHMDC+ group reported at least 2 or 3 or more undetected health problems vs 41% and 14% in the GHMDC– group.

Significant differences were also seen in median BMI and prevalence of T2D in the GHMDC+ group compared with the GHMDC– group, even after accounting for age:

• BMI: 20 (19-24) vs 38 (31-51) kg/m²
• T2D incidence: 0% vs 27% (75% of whom were treated)

Meanwhile, overall rates of hypertension, hypercholesterolemia, and vitamin D deficiency were at least 21 percentage points lower in the GHMDC+ vs the GHMDC– group.

The authors highlighted that because obesity and T2D are important cardiovascular disease risk factors, their finding of their effects on outcomes among those in the GHMDC– group is especially important. Because of this, patient vulnerability to both needs to be reduced.

It’s also possible that GHMDC prevents both in patients who have PWS, as well as can lead to early detection of otherwise undiagnosed problems.

“Our data clearly show that the combination of both has beneficial effects. However, as all patients who received GHT were treated in a multidisciplinary setting, it is unknown which effects are the result of GHT and which are the result of multidisciplinary care,” the authors concluded. “Therefore, we recommend continuing GHMDC after patients with PWS have reached adult age.”

Because not all adults living with PWS have access to hormone treatment, the authors support approval of the treatment for this entire group, as well.

Reference

Pellikaan K, Rosenberg AG, Davidse K, et al. Effects of childhood multidisciplinary care and growth hormone treatment on health problems in adults with Prader-Willi syndrome. J Clin Med. 2021;10(15):3250. doi:10.3390/jcm10153250