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The limb girdle and congenital muscular dystrophies (LGMD and CMD) are characterized by skeletal muscle weakness and dystrophic muscle changes. The onset of symptoms in CMD is within the first few months of life, whereas in LGMD they can occur in late childhood, adolescence or adult life. We have recently demonstrated that the fukutin-related protein gene (FKRP) is mutated in a severe form of CMD (MDC1C), characterized by the inability to walk, leg muscle hypertrophy and a secondary deficiency of laminin alpha2 and alpha-dystroglycan. Both MDC1C and LGMD2I map to an identical region on chromosome 19q13.3. To investigate whether these are allelic disorders, we undertook mutation analysis of FKRP in 25 potential LGMD2I families, including some with a severe and early onset phenotype. Mutations were identified in individuals from 17 families. A variable reduction of alpha-dystroglycan expression was observed in the skeletal muscle biopsy of all individuals studied. In addition, several cases showed a deficiency of laminin alpha2 either by immunocytochemistry or western blotting. Unexpectedly, affected individuals from 15 families had an identical C826A (Leu276Ileu) mutation, including five that were homozygous for this change. Linkage analysis identified at least two possible haplotypes in linkage disequilibrium with this mutation. Patients with the C826A change had the clinically less severe LGMD2I phenotype, suggesting that this is a less disruptive FKRP mutation than those found in MDC1C. The spectrum of LGMD2I phenotypes ranged from infants with an early presentation and a Duchenne-like disease course including cardiomyopathy, to milder phenotypes compatible with a favourable long-term outcome.

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The objective of this study was to compare the effect of virtual reality to passive distraction and standard care on burn treatment pain in adolescents.This single-blinded, randomized controlled study enrolled 30 adolescents who were 10 to 17 years of age from the burn clinic of a large children's hospital. After providing informed consent/assent, these participants were randomly assigned to one of three groups during wound care: standard care, passive distraction watching a movie, or virtual reality (VR) using a tripod-arm device rather than an immersive helmet. Before wound care, participants completed the Spielberger's State-Trait Anxiety Inventory for Children and Pre-Procedure Questionnaire while blinded to group assignment. A total of 28 participants completed the study and rated treatment pain after wound care by using the Adolescent Pediatric Pain Tool and completed a Post-Procedure Questionnaire. The VR group reported less pain during wound care than either the passive distraction or standard care group as determined by multivariable linear regression adjusted for age, sex, preprocedure pain, state anxiety, opiate use, and treatment length. The VR group was the only group to have an estimated decrease in pain perception from baseline preprocedure pain to procedural pain reported. Adolescents pretreated with opiate analgesics and female adolescents reported more pain during wound care.This between-subjects clinical study provides further support for VR, even without requiring wearing of an immersive helmet, in lessening burn wound care pain in adolescents. Passive distraction by watching a movie may be less effective in reducing treatment pain. Additional between-subjects randomized controlled trials with larger samples of children and during other healthcare treatments may further support VR's effectiveness in pediatric procedural pain management.