[From the social pediatric center to the medical center for adults with disabilities-transition in adults with complex disabilities]. / Vom Sozialpädiatrischen Zentrum zum Medizinischen Zentrum für Erwachsene mit Behinderung ­ Transition bei Menschen mit komplexen Behinderungen.

The successful medical treatment of patients with complex disabilities requires care by multidisciplinary teams in social paediatric centers (German: SPZ) and medical centers for adults with disabilities (German: MZEB). These complement general outpatient medical care, which would be overwhelmed without this support. The quality of this care is crucial for the participation of patients and the prognosis of the disease. At the age of 18, this system requires a transition from the SPZ to the MZEB, which has not yet been satisfactorily regulated. The task and structural prerequisites for this are described. An inadequate or absent transition entails the risk of additional worsening of the course of the disease.

[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.

The earliest reference to ADHD in the medical literature? Melchior Adam Weikard's description in 1775 of "attention deficit" (Mangel der Aufmerksamkeit, Attentio Volubilis).

OBJECTIVE: The present article reports on the discovery and translation of a chapter in a 1775 medical textbook by the German physician, Melchior Adam Weikard, which describes attention disorders. This article is believed to be the earliest reference to the syndrome that today is known as attention deficit hyperactivity disorder, or ADHD. METHOD: The authors briefly discuss previous efforts to identify the earliest description of ADHD thought to be the lectures of George Still in 1902 and subsequently, the medical textbook by the physician, Alexander Crichton, in 1798. Background is provided on Weikard followed by the English translation of his short chapter on attention deficits and the rationale for why it should be viewed as relevant to the history of ADHD. RESULTS AND CONCLUSIONS: The authors argue that Weikard's description in 1775 now deserves to be credited with providing the first description of attention disorders in the medical literature known to date.

High-avidity human serum antibodies recognizing linear epitopes of Borna disease virus proteins.

BACKGROUND: The recent observation that Borna disease virus (BDV)-reactive antibodies from psychiatric patients exhibit only low avidity for BDV antigen called into question their diagnostic value and raised the possibility that antigenically related microorganisms or self antigens caused the production of these antibodies. We further characterized the specificity of these antibodies. METHODS: We established a peptide array-based screening test that allows the identification of antibodies directed against linear epitopes of the two major BDV proteins, the nucleoprotein (N) and the phosphoprotein (P). RESULTS: Initial tests employing sera of BDV-infected mice and rats or horses with Borna disease revealed a high specificity and sensitivity of this test. All sera recognized epitopes of N, P, or both. Sera of noninfected rats, mice, and horses showed no signals on either peptide array. Several human sera that recognized BDV antigen by indirect immunofluorescence contained antibodies that recognized various linear epitopes of one or even both BDV proteins. Remarkably, antibodies purified from such human serum by matrix-immobilized peptides showed high-avidity binding to BDV antigens when assayed by IFA or Western blotting. CONCLUSIONS: These data suggest that reactive antibodies found in psychiatric patients indeed indicate infection with BDV or a BDV-like agent. However, the poor affinity maturation of BDV-specific human antibodies remains unexplained.