Health-related quality of life of adults with spinal muscular atrophy: insights from a nationwide patient registry in Germany.

Purpose: Spinal muscular atrophy (SMA) is a rare, autosomal-recessive disease characterized by progressive muscular atrophy and weakness resulting in substantial disability and short life expectancy. The objective of this cross-sectional study was to assess health-related quality of life (HRQoL) of adults with SMA in Germany in the era of disease-modifying therapy.

Methods: Adults with SMA were recruited via the German national TREAT-NMD SMA patient registry.

Child temperament as a longitudinal predictor of mother-adolescent interaction quality: are effects independent of child and maternal mental health?

Adaptive parent-child interaction plays a major role in healthy child development. Caregiver mental health problems can negatively impact parent-child interaction. In turn, interactional quality is often studied as a predictor of child outcome.

Self-Reported Health-Related Quality of Life of Children with Spinal Muscular Atrophy: Preliminary Insights from a Nationwide Patient Registry in Germany.

Background: Spinal muscular atrophy (SMA) is a rare, severely debilitating neuromuscular disease characterized by a wide spectrum of progressive muscular atrophy and weakness.

Objectives: The objective of this pilot study was to estimate self-assessed health-related quality of life (HRQoL) of children with SMA.

Methods: Children with SMA were recruited via the German national TREAT-NMD SMA patient registry and asked to self-complete the following rating-scales: KIDSCREEN-27, KINDL, the PedsQL 3.

Prenatal stress and child externalizing behavior: effects of maternal perceived stress and cortisol are moderated by child sex.

Background: Externalizing behavior problems are related to social maladjustment. Evidence indicates associations between prenatal stress and child behavioral outcomes. It remains unclear how psychological distress vs.

Areas of improvement in the medical care of SMA: evidence from a nationwide patient registry in Germany.

Background: Management and treatment of spinal muscular atrophy (SMA) has changed in recent years due to the introduction of novel transformative and potentially curative therapies resulting in the emergence of new disease phenotypes. Yet, little is known about the uptake and impact of these therapies in real-world clinical practice. The objective of this study was to describe current motor function, need of assistive devices, and therapeutic and supportive interventions provided by the healthcare system, as well as the socioeconomic situation of children and adults with different SMA phenotypes in Germany.