Effect of non-pharmacological intervention on the nutritional status of patients with Prader Willi Syndrome.

INTRODUCTION: Obesity is highly prevalent in patients with Prader-Willi syndrome (PWS), particularly among adults. This condition, which can be morbid in many cases, is multifactorial and has a complex management. The purpose of our study was to describe the feasibility of achieving a better nutritional status, including normal weight in individuals diagnosed with PWS, through specific nutritional interventions within the framework of a transdisciplinary treatment and without resorting to pharmacological treatments or growth hormone (GH). METHODOLOGY: This observational study included patients with confirmed genetic diagnosis of PWS, receiving transdisciplinary treatment in a specialized rare diseases institution. Patients under treatment with GH and those under pharmacological treatment with nutritional objectives were excluded from the study. All patients attended our institution regularly on a weekly or fortnightly basis. Anthropometric records, including weight, height, and body mass index (BMI) were evaluated in each visit from treatment onset until the last check-up. RESULTS: We included 24 patients with confirmed genetic diagnosis of PWS. At baseline, 9 patients (38 %) had obesity grade III, 1 (4 %) of obesity grade II, 10 (42 %) of obesity grade I, 2 (8 %) of overweight, and 2 patients (8 %) with normal baseline weight. After a median duration of 52 months (interquartile range 23-116 months) of transdisciplinary nutritional treatment, we identified a significant reduction in BMI (baseline 40.2 ± 15.7 kg/m2 vs. follow-up 28.3 ± 6.7 kg/m2, p < 0.0001), without significant differences regarding height (baseline 1.45 ± 0.1 m vs. follow-up 1.48 ± 0.1 m, p = 0.09). CONCLUSION: In this study, we demonstrated that nutritional nonpharmacologic interventions immersed in a transdisciplinary treatment enabled a consistent and sustainable improvement in BMI and nutritional status among patients with PWS.

A Case Series Study on Growth Hormone Therapy in Children with Prader-Willi Syndrome in Portugal.

INTRODUCTION: Prader-Willi syndrome is a multisystemic genetic disorder associated with shorter adult height. Nowadays, all paediatric Prader-Willi syndrome patients are considered for growth hormone treatment. We present the experience of this treatment at a Portuguese paediatric endocrinology unit and intend to emphasise the importance of creating a follow-up national network of these patients. MATERIAL AND METHODS: Longitudinal, retrospective, analytical study of Prader-Willis syndrome patients using data between 1989 and 2021. Growth hormone therapy was offered to eligible patients. The analysis included all Prader-Willis syndrome patients, with a comparison between treated and untreated patients; a longitudinal analysis of patients receiving growth hormone therapy (baseline, 12 and 36 months of follow-up) was also carried out. The statistical analysis was carried out using STATA® v13.0. RESULTS: Out of 38 patients with Prader-William syndrome, 61% were male. The median age at diagnosis was four months and 61% received growth hormone therapy. The patients who reached adulthood, or 18 years old, had a median near-adult height, Z-score of -2.71, and their median body mass index indicated class 2 obesity, regardless of growth hormone therapy. Patients had a lower body mass index in the growth hormone group (35 vs 51 kg/m2, p < 0.042) near-adult height. CONCLUSION: This case series represents the first national study that included patients on growth hormone therapy after the National Health Service started supporting the treatment for Prader-Willi syndrome patients and supports its use, reinforcing the positive effects on growth and body mass index. Longer follow-up studies are needed to analyse the effect of growth hormone on patient metabolic profiling, body composition and cognitive level.

Introdução: A síndrome de Prader-Willi é uma doença genética multissistémica associada a baixa estatura. Atualmente, todos os doentes pediátricos com síndrome de Prader-Willi são candidatos a terapia com hormona do crescimento. Apresentamos a experiência desta terapêutica numa unidade de Endocrinologia Pediátrica portuguesa e realçamos a importância de criar uma base de dados nacional de seguimento destes doentes. Material e Métodos: Estudo longitudinal, retrospetivo e analítico de doentes com síndrome de Prader-Willi utilizando dados entre 1989 e 2021. A terapia com hormona de crescimento foi administrada aos doentes elegíveis. Foi realizada análise de todos os doentes com síndrome de Prader-Willi, com comparação doentes tratados/não tratados; foi também realizada uma análise longitudinal dos doentes sob hormona de crescimento (início/12/36 meses de seguimento). O tratamento estatístico foi realizado com recurso ao STATA® v13.0. Resultados: De um total de 38 doentes com síndrome de Prader-Willi, 61% eram do sexo masculino. Idade média de diagnóstico quatro meses e 61% sob hormona de crescimento. Os doentes que atingiram a idade adulta apresentaram um Z-score de mediana de estatura alvo de -2,71, e índice de massa corporal obesidade nível 2, independentemente da terapêutica com hormona de crescimento. Os doentes apresentaram um índice de massa corporal menor no grupo tratado com hormona de crescimento (35 vs 51 kg/m2, p < 0,042). Conclusão: Este estudo de série de casos de doentes com síndrome de Prader-Willi tratados com hormona de crescimento é pioneiro a nível nacional desde a comparticipação deste tratamento pelo Sistema Nacional de Saúde português e apoia esta terapêutica, reforçando os seus efeitos positivos no crescimento e índice de massa corporal. Serão necessários estudos com seguimento mais prolongado para analisar o seu efeito no perfil metabólico, composição corporal e cognição.

Managing growth hormone treatment in pediatric patients.

In general, GH is a safe medication. Patients overwhelmingly enjoy its benefits. Infrequently, its side effects produce worrisome problems. Knowledge of these effects may allow families to choose treatment more judiciously and may allow physicians to detect adverse effects at an early stage.