A clinical follow-up of 35 Brazilian patients with Prader-Willi Syndrome

Abstract

OBJECTIVE:Prader-Willi Syndrome is a common etiology of syndromic obesity that is typically caused by either a paternal microdeletion of a region in chromosome 15 (microdeletions) or a maternal uniparental disomy of this chromosome. The purpose of this study was to describe the most significant clinical features of 35 Brazilian patients with molecularly confirmed Prader-Willi syndrome and to determine the effects of growth hormone treatment on clinical outcomes.METHODS:A retrospective study was performed based on the medical records of a cohort of 35 patients diagnosed with Prader-Willi syndrome. The main clinical characteristics were compared between the group of patients presenting with microdeletions and the group presenting with maternal uniparental disomy of chromosome 15. Curves for height/length, weight and body mass index were constructed and compared between Prader-Willi syndrome patients treated with and without growth hormone to determine how growth hormone treatment affected body composition. The curves for these patient groups were also compared with curves for the normal population.RESULTS:No significant differences were identified between patients with microdeletions and patients with maternal uniparental disomy for any of the clinical parameters measured. Growth hormone treatment considerably improved the control of weight gain and body mass index for female patients but had no effect on either parameter in male patients. Growth hormone treatment did not affect height/length in either gender.CONCLUSION:The prevalence rates of several clinical features in this study are in agreement with the rates reported in the literature. Additionally, we found modest benefits of growth hormone treatment but failed to demonstrate differences between patients with microdeletions and those with maternal uniparental disomy. The control of weight gain in patients with Prader-Willi syndrome is complex and does not depend exclusively on growth hormone treatment.

Health Problems in Individuals With PWS Are Associated With Lower Quality of Life for Their Parents: A Snapshot in the Brazilian Population

“…It is possible to infer that the gains from GH treatment result in an overall improvement in the health status of individuals with PWS, and a consequent concomitant increase in the parents' perception of quality of life. A previous study conducted in Brazilian PWS patients also reported the benefits of GHRT ( 69 ).…”

Gender Differences in the Behavioral Symptom Severity of Prader-Willi Syndrome

“…Third, a future study should assess the influence of endocrinological factors including growth hormone therapy and diabetes on the behavioral aspects with PWS focusing on gender differences. Based on 35 Brazilian patients with PWS, Quaio et al [ 62 ] demonstrated that growth hormone treatment considerably improved the control of weight gain and body mass index for female patients but no effect on either parameter in male patients. They suggested that in male patients the benefits of growth hormone treatment may have been overcome by other factors, such as food-intake behaviors.…”

Special Care Dentistry in a Patient with Prader–Willi Syndrome through the Use of Atraumatic Restorative Treatment under General Anesthesia

“…A study with PWS patients demonstrated that all of them presented, at least, five of the following typical facial characteristics: prominent forehead, almond-shaped eyes, downturned mouth, narrow face, thin upper lip, micrognathia, and small-appearing mouth [ 5 ]. The retrospective analysis of 35 PWS cases in Brazil evinced that hypotonia was present in the first year of life of all patients, leading to nutrition problems in the great majority of the cases [ 8 ].…”