BackgroundAs data on the phenotype, characteristics and management of patients with Fragile X Syndrome (FXS) are limited, we aimed to collect such data in Germany in experienced centres involved in the treatment of such patients.MethodsEXPLAIN-FXS is a prospective observational (non-interventional) study (registry) performed between April 2013 and January 2016 at 18 sites in Germany. Requirements for patient participation included confirmed diagnosis of FXS by genetic testing (>200 CGG repeats) and written informed consent. Patients were followed for up to 2 years.ResultsSeventy-five patients (84.0 % males, mean age 16.7 ± 14.5 years, ranging from 2 - 82 years) were analysed. The mean 6-item score, determined according to Giangreco (J Pediatr 129:611-614, 1996), was 6.9 ± 2.5 points. At least one neurological finding each was noted in 53 patients (69.7 %). Specifically, ataxia was noted in 5 patients (6.6 %), lack of fine motor skills in 40 patients, (52.6 %), muscle tonus disorder in 4 patients (5.3 %), and other neurological disorders in 39 patients (51.3 %). Spasticity was not noted in any patient.Seizures were reported in 6 patients (8.1 %), anxiety disorders in 22 patients (30.1 %), depression in 7 patients (9.6 %), ADHD/ADD in 36 patients (49.3 %), impairment of social behavior in 39 patients (53.4 %), and other comorbidities in 23 patients (31.5 %). The mean Aberrant Behaviour Checklist Community Edition (ABC-C) score on behavioral symptoms, obtained in 71 patients at first documentation, was 48.4 ± 27.8 (median 45.0, range 5-115). The mean visual analogue scale (VAS) score, obtained in 59 patients at first documentation, was 84.9 ± 14.6 points (median 90; range 50 – 100).ConclusionsThis report describes the largest cohort of patients with FXS in Europe. The reported observations indicate a substantial burden of disease for patients and their caregivers. Based on these observations, an early expert psychiatric diagnosis is recommended for suspected FXS patients. Further recommendations include multimodal and multi-professional management that is tailored to the individual patient’s needs.Trial registrationThe ClinTrials.gov identifier is NCT01711606. Registered on 18 October 2012.

BackgroundFragile 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/designEXPLAIN 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.DiscussionThe 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.Trial registrationThe ClinicalTrials.gov identifier is NCT01711606.

Zusammenfassung Einleitung Für junge Menschen mit Intelligenzminderung (IM) besteht ein spezifischer Unterstützungsbedarf für die Sicherstellung einer ausreichenden medizinischen Versorgung im Übergang in das Erwachsenenleben. Methode Beschrieben werden die Kernsymptomatik bei Intelligenzminderung, Verlauf und typische Komorbidität, die epidemiologische Relevanz, die spezifische Transitionslücke und sich hieraus ergebende Empfehlungen. Ergebnisse Strukturierungsbedarf besteht anlässlich kognitiver, sozialer und kommunikativer Einschränkungen. Atypische Verläufe und ein erhöhtes Risiko für Verhaltens-, psychische und somatische Störungen sowie Gewalt- und Missbrauchserfahrungen bedingen komplexe Vorgehensweisen. Schlussfolgerung Zur Sicherstellung einer ausreichenden gesundheitlichen Versorgung bedarf es der Wissensvermittlung und der Vorhaltung geeigneter und erreichbarer Strukturen einer multimodalen, interdisziplinären und vernetzten Versorgung zur Überleitung und Weiterversorgung, einschließlich deren Finanzierung.

Patients with FRX often suffer from additional mental disorders and should be diagnosed and treated early.

Patients with FRX often suffer from additional neurological and mental disorders. For that reason, they should be diagnosed and treated early on.