De novo variants in neurodevelopmental disorders-experiences from a tertiary care center.

Up to 40% of neurodevelopmental disorders (NDDs) such as intellectual disability, developmental delay, autism spectrum disorder, and developmental motor abnormalities have a documented underlying monogenic defect, primarily due to de novo variants. Still, the overall burden of de novo variants as well as novel disease genes in NDDs await discovery. We performed parent-offspring trio exome sequencing in 231 individuals with NDDs.

Quantitative magnetic resonance imaging of the upper trapezius muscles - assessment of myofascial trigger points in patients with migraine.

Background: Research in migraine points towards central-peripheral complexity with a widespread pattern of structures involved. Migraine-associated neck and shoulder muscle pain has clinically been conceptualized as myofascial trigger points (mTrPs). However, concepts remain controversial, and the identification of mTrPs is mostly restricted to manual palpation in clinical routine.

Six-minute walk test versus two-minute walk test in children with Duchenne muscular dystrophy: Is more time more information?

Background/purpose: The six minute walk test is a widely accepted primary outcome parameter in most studies in Duchenne muscular dystrophy (DMD). To compare information obtained by the six minute walk distance (6MWD) test and the two minute walk distance (2MWD) in patients with DMD, a cohort of 13 voluntary DMD boys did a repeated six minute walking test.

Methods: Patients had to be ambulatory with a physical disability according to Levels 1-3 on the Vignos-Scale for lower extremity.

Does hip displacement influence health-related quality of life in children with cerebral palsy?

Objective: To evaluate the association of hip lateralisation with health-related quality of life (HRQL) in children with cerebral palsy (CP) using the Caregiver Priorities and Child Health Index of Life with Disabilities (CPCHILD(®)) questionnaire.

Methods: We assessed n = 34 patients (mean age: 10.2 years, SD: 4.

Safety of robotic-assisted treadmill therapy in children and adolescents with gait impairment: a bi-centre survey.

Objective: The aim of the present study was to report on adverse events encountered with robotic-assisted treadmill therapy in children and adolescents with gait disorders.

Methods: Eighty-nine patients who underwent a trial of robotic assisted treadmill therapy in the two participating centres were analysed. Demographic data and safety data of the patients were analysed using descriptive statistics.