Christoph Höger

Psychosocial care by general practitioners--where are the problems? Results of a demonstration project on quality management in psychosocial primary care.

Objective: Since 1987, psychosocial services have been a part of the primary care setting in Germany. In the framework of an eight-center national demonstration program, problems in the diagnosis and therapy of psychosocial problems and psychosomatic disorders were assessed. Methods to improve quality were also implemented. Method: General practitioners (n = 191) from six regions participated in the study. One thousand three hundred and forty-one treatment episodes of patients with predominantly psychosocial symptoms were documented. Differences between psychosocial strain, treatment, and outcome were determined by analyses of variance. Results: Anxiety (62%), depression (51%), and marital/family conflicts (44%) were the most frequent symptoms. Psychosocial treatment was offered more often to those patients who had the highest level of anxiety and depression. Patients with pain and without a psychological attribution to their illnesses were offered less psychosocial treatment and suffered worse results. Partners and family members were rarely integrated into therapy. The procedures employed to improve outcome were quality circles, family-oriented case conferences, consultation services, and collaborative groups. Conclusions: These initial results are promising. A process of internal quality management has been initiated. Some of the physicians still resist documenting the data. Patients with somatic symptoms without psychological attribution may need special psychosocial interventions to improve their outcomes.

Familial intellectual disability and autistic behavior caused by a small FMR2 gene deletion.

Alterations of the Fragile Mental Retardation 2 gene (FMR2, synonym AFF2) can result in non‐specific, mild to borderline X‐linked intellectual disability (XLID), and behavioral problems. The well‐known molecular pathomechanism of this condition, also referred to as FRAXE, is a (CCG)n trinucleotide repeat expansion which leads to silencing of the FMR2 gene. However, deletions within the FMR2 gene may also be causative of the disorder. Here, we report on two brothers diagnosed with FRAXE in whom a small deletion in the FMR2 gene was detected by whole genome array comparative genomic hybridization (CGH). The deletion was also present in their clinically healthy mother and maternal uncle who was similarly affected, but not in a healthy older brother of the two patients. Our observation demonstrates that FMR2 gene deletions may contribute to the FRAXE phenotype. Therefore, we suggest that screening for FMR2 gene deletions using array CGH should be considered in patients with non‐specific XLID and absent trinucleotide expansion.

Visually self-induced seizures sensitive to round objects.

Summary:  Purpose: To describe a previously unreported type of self‐induced pattern‐sensitive seizures in a child.