title: EXPLAIN Fragile-X: an explorative, longitudinal study on the characterization, treatment pathways, and patient-related outcomes of Fragile X Syndrome.
abstract: BACKGROUND
  Fragile X syndrome (FXS), caused by a mutation of the FMR1 gene on the X chromosome, is the most common inherited form of intellectual disability and autism spectrum disorders. Comprehensive data are lacking, however, on the characteristics and management patients with FXS in Germany.
  
  
  METHODS
  EXPLAIN is a prospective, observational, longitudinal registry with a non-probability sampling approach. It collects data on patient characteristics, therapeutic interventions, psychosocial parameters (including those of family members and caregivers), quality of life of caregiver and patient, caregiver burden, and health economic parameters, such as hospitalisation time. It is designed to include data from 300 patients in ambulatory care from about 50 centres that employ psychiatrists, paediatricians, neurologists, and other relevant specialists, in Germany. The study was initiated in March, 2013. Patients will be followed for at least two years.
  
  
  CONCLUSIONS
  The registry is expected to provide much-needed data on the characteristics and management of patients with FXS in Germany. It will also allow comparisons with other countries, and will enable gap analyses based on current guidelines for management of these patients.
  
  
  BACKGROUND
  The ClinicalTrials.gov identifier is NCT01711606.
authors.affiliation: Zentrum für Nervenheilkunde, Klinik für Psychiatrie, Neurologie, Psychosomatik und Psychotherapie im Kindes- und Jugendalter, Universitätsmedizin Rostock, Rostock, Germany. frank.haessler@med.uni-rostock.de.
authors.forename: Frank
authors.initials: F
authors.lastname: Haessler
authors.forename: Franziska
authors.initials: F
authors.lastname: Gaese
authors.forename: Michael
authors.initials: M
authors.lastname: Colla
authors.forename: Michael
authors.initials: M
authors.lastname: Huss
authors.forename: Christoph
authors.initials: C
authors.lastname: Kretschmar
authors.forename: Marc
authors.initials: M
authors.lastname: Brinkman
authors.forename: Heike
authors.initials: H
authors.lastname: Schieb
authors.forename: Helmut
authors.initials: H
authors.lastname: Peters
authors.forename: Samuel
authors.initials: S
authors.lastname: Elstner
authors.forename: David
authors.initials: D
authors.lastname: Pittrow
mesh_terms: D018450:Disease Progression; D005260:Female; D005600:Fragile X Syndrome / Q000175:diagnosis* / Q000628:therapy*; D005858:Germany; D006801:Humans; D008137:Longitudinal Studies; D008297:Male; D011446:Prospective Studies; D012107:Research Design; D016896:Treatment Outcome