Large-scale evaluation of outcomes after a genetic diagnosis in children with severe developmental disorders.

Purpose: We sought to evaluate outcomes for clinical management after a genetic diagnosis from the Deciphering Developmental Disorders study.

Methods: Individuals in the Deciphering Developmental Disorders study who had a pathogenic/likely pathogenic genotype in the DECIPHER database were selected for inclusion ( = 5010). Clinical notes from regional clinical genetics services notes were reviewed to assess predefined clinical outcomes relating to interventions, prenatal choices, and information provision.

Perinatal and infant mental health care in Austria : Mapping of existing prevention, screening, and care services.

Purpose: Perinatal mental illness (PMI) is one of the major health problems during pregnancy and one year after birth (the perinatal period), with robust evidence of its potentially detrimental effects on the parent's and child's health. Many countries have prioritised perinatal and infant mental health care (PIMHC). In Austria, it is currently unknown how many services are available in which region.

Somatic symptom disorder and the role of epistemic trust, personality functioning and child abuse: Results from a population-based representative German sample.

Background: A growing body of evidence explored symptom burden of somatic symptom disorder (SSD) and its complex etiology involving psychosocial aspects. Child abuse has been linked to numerous psychopathologies including somatic symptoms as well as impaired personality functioning and disruptions in epistemic trust. This work aims to investigate personality functioning and epistemic trust in the association between child abuse and somatic symptom burden.

Should Scotland provide genome-wide sequencing for the diagnosis of rare developmental disorders? A cost-effectiveness analysis.

Aims: This study aims to evaluate the cost effectiveness of genetic and genomic testing strategies for the diagnosis of rare developmental disorders in NHS Scotland.

Methods: Six genetic and genomic testing strategies were evaluated using a decision tree model. First-line, second-line and last-resort trio genome sequencing (GS), and second-line and last-resort trio exome sequencing (ES) were compared with standard genetic testing.