[Adults with Intellectual Disability and Mental Disorder Respectively Challenging Behaviour: System-Related Strategies for Coping with Aggressive Incidents]. / Erwachsene mit Intelligenzminderung und psychischer Störung respektive problematischem Verhalten: Systemrelevante Strategien zur Reduktion aggressiver Eskalationen.

A large interview study, evolved from the clinical research project SYMPA-ID (Systemic Methods in Acute Psychiatry for People with Intellectual Disability), focused on adults with cognitive impairment and mental disorder who lived in a residential home and were in need of intensive psychiatric treatment. With the objective of analysing the interactions between the patients and their carers as well as the cooperations within the multi-carer system, both patients with mild to severe ID and their carers (relatives, legal guardians, professional carers of residential group homes as well as in- and outpatient psychiatric services) were surveyed several times between 2015 and 2018. Qualitative Data Analysis of 188 interviews with 67 participants resulted in a collection of 43 strategies concerning both attitudes and activities to prevent or cope with aggressive incidents. The results reached high interrater-reliability. Many of the strategies can be linked to systemic theory and practice and underline the importance of a (multi-)systemic approach. The tool-box was called SMILE: Systemic-inspired Methods for the Interaction and SoLution of Escalative Patterns.

[Pilot study of psychiatric and social aspects of children and adolescents with fragile X syndrome]. / Pilotstudie zu psychiatrischen und sozialen Aspekten bei Kindern und Jugendlichen mit Fragilem-X-Syndrom (FRX).

Objective: The study describes the burden of psychosocial risks of mental illnesses and the ways in which children and adolescents with fragile X syndrome (FRX) can be treated. Method: Data from a sample of 34 patients with FRX younger than 18 years stemming from a prospective multicenter (n = 11) registry study (EXPLAIN) were analyzed with regard to psychosocial burden and Treatment. Results: One third of all participants reported having relatives who suffer from FRX. The majority of participants were suffering themselves from one kind or another mental or neurological problems. Younger participants (< 14 years) tended to suffer from atactic disorders, epileptic seizures, and autistic symptoms. These disorders were usually treated by psychotropic drugs supplemented by logopedic therapies and occupational therapies (more than once a month). In our sample, 96.3 % of the younger patients and more than 57.1 % of the older patients were still living with their parents. Conclusions: Patients with FRX often suffer from additional neurological and mental disorders. For that reason, they should be diagnosed and treated early on.

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

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.

[Psychiatric and Social Aspects of Patients with Fragile X Syndrome]. / Psychiatrische und soziale Aspekte bei Patienten mit fragilem X-Syndrom (FRX).

OBJECTIVE: The goal of the study was to describe the burden of psychosocial risks, of mental illnesses and the ways of treatment of patients with fragile X syndrome (FRX). METHOD: Data from a sample of 46 FRX-patients stemming from a prospective multicenter (N = 12) registry study (EXPLAIN) were analyzed with regard to psychosocial burden and treatment. RESULTS: More than 50 % of all participants reported about relatives suffering from FRX, too. The majority of participants did not finish school and was suffering from one or another kind of mental problems. Younger participants (< 18 yrs.) tended to suffer from expansive disorders. Older participants were rather burdened by internalizing symptoms and disorders. Disorders were usually treated by psychotropic drugs added by logopedic therapies and occupational therapies (more than once a month). In our sample 90.6 % of younger and more than 64.3 % of older patients were still living with their parents. CONCLUSIONS: Patients with FRX often suffer from additional mental disorders and should be diagnosed and treated early.

EXPLAIN Fragile-X: an explorative, longitudinal study on the characterization, treatment pathways, and patient-related outcomes of Fragile X Syndrome.

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/DESIGN: 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. DISCUSSION: 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. TRIAL REGISTRATION: The ClinicalTrials.gov identifier is NCT01711606.