Uncovering health and social care needs among myotonic dystrophy patients: Utility of the Needs and Provisions Complexity Scale.

Objectives: Myotonic dystrophy type 1 (DM1) is a slowly progressive multisystem disorder. Guidelines recommend multidisciplinary follow-up. We aimed to investigate the presence of unmet health and social care needs among patients with DM1 and whether unmet needs correlated with motor function, cognitive impairments, or quality of life.

The investigation of inborn errors of metabolism as an underlying cause of idiopathic intellectual disability in adults in Norway.

Background And Purpose: Inborn errors of metabolism (IEMs) may be an unrecognized cause of intellectual disability (ID) in adults. Knowledge and techniques for investigating IEMs have evolved rapidly; therefore adult patients with idiopathic ID may benefit from an up-to-date aetiological work-up. This review aims at establishing recommendations for investigating IEMs as a cause of ID in adults.