期刊
PEDIATRIC OBESITY
卷 15, 期 1, 页码 -出版社
WILEY
DOI: 10.1111/ijpo.12577
关键词
central nervous system; MC4R mutation; methylphenidate; monogenic obesity; LEPR mutation
类别
资金
- Hertha-Nathorff-Programm [LSSH1000.07, KSKI 002.1]
Background: The clinical phenotype of patients with monogenic obesity due to mutations in the leptin receptor (LEPR) or melanocortin 4 receptor (MC4R) gene is characterized by impaired satiety and hyperphagia, leading to extreme, sometimes life-threatening weight gain. Subjects/methods: In a case series, we analysed the effect of an off-label methylphenidate (MPH) use for 1 year as an individual treatment approach on eating behaviour (Child Eating Behaviour Questionnaire [CEBQ]), appetite (visual analogue scales) and body mass index (BMI) trajectories in five patients with severe obesity due to mutations in the LEPR (n = 3) or MC4R (n = 2) gene. Results: After 1 year use of MPH (20 mg/day divided in two to three doses), BMI (Delta BMIT0-T1 (x) over bar: -0.7 +/- 0.9 kg/m(2)), BMI standard deviation score (SDS) (Delta BMI-SDST0-T1 (x) over bar: -0.32 +/- 0.20), and %BMIP95 (Delta%BMIP95(T0-T1) (x) over bar: -6.6 +/- 7.8%) decreased. BMI-SDS velocity decreased from +0.17 +/- 0.22 to -0.30 +/- 0.20. Appetite and CEBQ subscale scores for food responsiveness and enjoyment of food decreased. We observed adverse effects with increase in self-reported frequency of disordered sleep, nervousness, hyperactivity, and tics. Conclusions: The observed decrease in BMI trajectories with MPH use for one year is clinically meaningful in this group of patients, since the natural course would have been associated with a pronounced increase in BMI, leading to comorbidities and complications over time.
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