The current benefit of genome sequencing compared to exome sequencing in patients with developmental or epileptic encephalopathies.

Background: As the technology of next generation sequencing rapidly develops and costs are constantly reduced, the clinical availability of whole genome sequencing (WGS) increases. Thereby, it remains unclear what exact advantage WGS offers in comparison to whole exome sequencing (WES) for the diagnosis of genetic diseases using current technologies.

Methods: Trio-WGS was conducted for 20 patients with developmental or epileptic encephalopathies who remained undiagnosed after WES and chromosomal microarray analysis.

Implementation of preventive mental health services for children of physically ill parents: experiences in seven European countries and health care systems.

Objective: Parental physical disease is a family issue, but families' minor children are seldom considered. The current study analyzed experiences with implementation of counseling for families with physically ill parents and minor children during a European multisite pilot project.

Method: Implementation protocols of seven European partner centers collaborating in a joint research project were analyzed by Mayring's qualitative content analysis.

The lupus family registry and repository.

The Lupus Family Registry and Repository (LFRR) was established with the goal of assembling and distributing materials and data from families with one or more living members diagnosed with SLE, in order to address SLE genetics. In the present article, we describe the problems and solutions of the registry design and biometric data gathering; the protocols implemented to guarantee data quality and protection of participant privacy and consent; and the establishment of a local and international network of collaborators. At the same time, we illustrate how the LFRR has enabled progress in lupus genetics research, answering old scientific questions while laying out new challenges in the elucidation of the biologic mechanisms that underlie disease pathogenesis.

Neuropsychological dysfunction, depression, physical disability, and coping processes in families with a parent affected by multiple sclerosis.

Background: Families with a parent suffering from multiple sclerosis (MS) must cope with the unpredictable course of the disease. Most studies analyzing factors that influence coping abilities in families with a member affected with MS used questionnaires to assess this ability.

Methods: On the contrary, the present study used a semi-structured psychiatric interview and used the resulting information to calculate a general measure of coping ability (coping index [CI]).

Disease variables and depression affecting the process of coping in families with a somatically ill parent.

Aim And Methods: Based on the investigation of 134 families with a seriously ill parent and 214 offspring, we compared--by means of semistructured psychiatric interviews--the capacity of the ill and the healthy parent and their children to cope with various diseases. We evaluated how disease characteristics such as duration and severity of the disease (assessed by the Karnofsky Index) and associated depression [measured by the Beck Depression Inventory for parents and the Depression Inventory for Children and Adolescents (Depressions-Inventar für Kinder und Jugendliche) for children] influence the coping capacity of all family members.

Results: The coping capacity of patients with organic disease (cancer, multiple sclerosis, other somatic diseases) is significantly higher than that of patients with somatization disorder, whereas the depression score of patients with organic disease is significantly lower than that of patients with somatization disorders.