Characterization, treatment patterns, and patient-related outcomes of patients with Fragile X syndrome in Germany: final results of the observational EXPLAIN-FXS study.
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.



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.



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).



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.



The ClinTrials.gov identifier is NCT01711606 . Registered on 18 October 2012.
Zentrum für Nervenheilkunde, Klinik für Psychiatrie, Neurologie, Psychosomatik und Psychotherapie im Kindes- und Jugendalter, Universitätsmedizin Rostock, Gehlsheimer Str. 20, D-18147, Rostock, Germany. frank.haessler@med.uni-rostock.de.
Frank
F
Haessler
Abt. Psychiatrische Therapie für Menschen mit Geistiger Behinderung, Isar-Amper-Klinikum gGmbH, Klinikum München-Ost, Haar, Germany.
Franziska
F
Gaese
Rheinhessen-Fachklinik Mainz, Kinder- und Jugendpsychiatrie, Mainz, Germany.|University Medicine, Child and Adolescent Psychiatry, Mainz, Germany.
Michael
M
Huss
Städt. Krankenhaus Dresden-Neustadt, Zentrum für Kinder- und Jugendmedizin - Sozialpädiatrisches Zentrum, Dresden, Germany.
Christoph
C
Kretschmar
Medizinische Abteilung, Novartis Pharma GmbH, Nürnberg, Germany.
Marc
M
Brinkman
Rheinhessen-Fachklinik Mainz, Kinder- und Jugendpsychiatrie, Mainz, Germany.
Helmut
H
Peters
Berliner Behandlungszentrum der Abteilung für Psychiatrie, Psychotherapie und Psychosomatik, Evangelisches Krankenhaus Königin Elisabeth Herzberge gGmbH, Berlin, Germany.
Samuel
S
Elstner
Experimental and Clinical Research Center, Charité - Campus Berlin Buch & Department of Psychiatry and Psychotherapy, Charité - Campus Mitte, Berlin, Germany.
Michael
M
Colla
Institut für Klinische Pharmakologie, Medizinische Fakultät, Technische Universität Carl Gustav Carus Dresden, Dresden, Germany.
David
D
Pittrow
D000293:Adolescent; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D002648:Child; D002675:Child, Preschool; D017281:Cost of Illness; D005060:Europe; D005260:Female; D005500:Follow-Up Studies; D005600:Fragile X Syndrome / Q000150:complications / Q000523:psychology* / Q000628:therapy*; D005858:Germany; D006801:Humans; D008297:Male; D001523:Mental Disorders / Q000150:complications / Q000523:psychology; D008875:Middle Aged; D063868:Patient Outcome Assessment; D010641:Phenotype; D011446:Prospective Studies; D012042:Registries; D012640:Seizures / Q000150:complications / Q000523:psychology; D055815:Young Adult
Ambulatory setting; Caregiver burden; Fragile X syndrome; Health care; Mental disorders; Outcomes; Quality of life