Background: It is thought that physical health conditions start at a young age in people with profound intellectual and multiple disabilities (PIMD). Knowledge regarding the prevalence, associations and development of these physical health conditions could be used for purposes of prevention as well as …

Cerebral palsy is a lifelong neurodevelopmental condition arising from non-progressive disorders occurring in the fetal or infant brain. Cerebral palsy has long been categorised into discrete motor types based on the predominance of spasticity, dyskinesia, or ataxia. However, these motor disorders, muscle …

RATIONALE: To date, causal therapy is potentially available for GRIN2B-related neurodevelopmental disorder (NDD) due to loss-of-function (LoF) variants in GRIN2B, resulting in dysfunction of the GluN2B subunit-containing N-methyl-d-aspartate receptor (NMDAR). Recently, in vitro experiments showed that …

Background: Infantile hereditary proximal spinal muscular atrophy (SMA) type 1 is characterized by onset in the first 6 months of life and severe and progressive muscle weakness. Dysphagia is a common complication but has not been studied in detail. Objective: To study feeding and swallowing problems …

BACKGROUND: Paratonia is a progressive motor problem that is observed in individuals with dementia and is not a well-known phenomenon. This study explores the development and risk factors of paratonia in moderate stage dementia patients. METHODS: A multi-center, longitudinal, one-year follow-up cohort …