Ghrelin in Patients With a Rare Disease Associated With Intellectual Disability, and Hyperphagia, and/or Overweight, and/or Obesity
Ghrelin in Patients With a Rare Disease Associated With Intellectual Disability, and Hyperphagia, and/or Overweight, and/or Obesity
A significantly higher proportion of patients with rare diseases (RD) with intellectual
 disability (ID), present hyperphagia, overweight or obesity, compared to the general
 population. Prader-Willi syndrome is the only genetic obesity identified to date associated
 with hyperghrelinemia, while ghrelin levels are lower than in controls in other situations of
 obesity.

 The aim of the study is to find out whether the levels of ghrelin, which are abnormally high
 in PWS throughout life, are also high in these RD when people have hyperphagia and/or
 overweight.
A significantly higher proportion of patients with rare diseases (RD) with intellectual
 disability (ID), present hyperphagia, overweight or obesity, compared to the general
 population. Prader-Willi Syndrome (PWS) and related syndromes (PWS-like) represent the most
 well-known causes of eating disorders with early and severe obesity. Other known RD with ID
 have been described as being associated with eating disorders with overweight or obesity,
 which appear later in adolescence : Angelman's syndrome (approximately 40% of patients are
 overweight or obese, and 32% of children have hyperphagia), Fragile X syndrome (over 30% are
 obese), Smith-Magenis syndrome (50 to 60% are obese). Prader-Willi syndrome is the only
 genetic obesity identified to date associated with hyperghrelinemia, while ghrelin levels are
 lower than in controls in other situations of obesity.

 The aim of the study is to find out whether the levels of ghrelin, which are abnormally high
 in PWS throughout life, are also high in these pathologies when people have hyperphagia
 and/or overweight.

 The study involves a single visit carried out during a routine follow-up in the CRMR, in
 which the blood sample will allow the dosage of the ghrelin hormon. The visit will also
 involves a data collection and some questionnaires.
Inclusion Criteria:

 -  Patients with one of the following rare diseases associated with : Angelman syndrome,
 Smith-Magenis syndrome, X Fragile syndrome, rare diseases of the cerebellum, rare
 epilepsies, PW-like syndromes or other rare diseases with eating disorders

 -  Patients aged minimum 3 years and maximum 50 years.

 -  Patients with overweight (or obesity) and/or hyperphagic behavior.

 Exclusion Criteria:

 -  Administrative problems: impossibility of giving parents or legal guardians informed
 information ; no coverage by a Social Security scheme.