Reference Centre:

CHU Toulouse

(France)

The French Reference Centre for PWS has been labelled by the French Ministry of Health in 2004 (Rare Disease Programme) with a renewal in 2017 comprising 1 coordinator centre in Toulouse and 2 constitutive centres, 1 in Paris and 1 in Hendaye. The coordinator in the University Hospital of Toulouse is Pr M Tauber. The multidisciplinary team in Toulouse is part of the Paediatric Endocrinology Unit in the Children Hospital. The team comprises a paediatrician, a psychiatrist, a psychologist, a speech and language specialist, a dietician and works in close collaboration with other teams regarding genetics, surgery, orthopaedic, pneumology, sleep troubles and dental problems. The team works in close collaboration with 2 rehabilitation services that are required throughout life; the setting in Hendaye allows multidisciplinary rehabilitation care for adolescents and adults with specific needs of occupational therapist, psychologist and psychiatrist. A recent setting (2015) for children has just been implemented close to the University Hospital of Toulouse.

The specific diseases and conditions covered are:

  • Prader-Willi syndrome (ORPHA739)
  • Prader-Willi like syndrome (ORPHA398073)
  • Magel2 or Snord116 mutations (ORPHA398079)
  • Conditions with intellectual deficiency and :
  • eating disorders with or without obesity
  • behaviour and psychiatric problems

Highly specific interventions:

  • Early diagnosis (in the first month of life) and comprehensive care including parents and healthcare guidance particularly for poor oral feeding and social skills in infants
  • Genetic diagnosis: characterisation of typical and atypical chromosomal deletions of PWS locus, MAGEL-2 mutations, Snord116 deletions, CGH array and developing new techniques for diagnosis of patients with intellectual deficiency and eating disorders with or without obesity and with or without behaviour and psychiatric problems
  • National clinical trials on new endocrine treatments (mainly targeting oxytocin and ghrelin systems) with effects on feeding, metabolism and behaviour including early interventions in neonates and infants
  • Brain imaging research
  • Basic research with multiple partnerships on animal models and iPS cells derived neurons

CHU Toulouse is participating in the following Main Thematic Groups (MTGs):


Contact information

CHU Toulouse
place lange
31300  Toulouse
France
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Representatives per Main Thematic Group (MTG)