Background As 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. Methods EXPLAIN-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. Results Seventy-
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). Conclusions This 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 registration The ClinTrials.gov identifier
is NCT01711606. Registered on 18 October 2012