The efficacy of virtual reality interventions compared with conventional physiotherapy in improving the upper limb motor function of children with cerebral palsy: a systematic review of randomised controlled trials.

PURPOSE: Cerebral palsy (CP) is the commonest motor disability affecting children. This study reviewed the evidence for virtual reality (VR) intervention compared with conventional physiotherapy in upper limb function of children with CP. METHODS: Searches were undertaken in MEDLINE, EMBASE, PEDro, CENTRAL, Web of Science, CINAHL, ERIC, ICTRP, EU-CTR, ClinicalTrials.gov and EThOS databases. Only randomised-controlled trials (RCTs) were included. Two reviewers independently screened the search results, assessed full-text articles, extracted data and appraised the methodological quality by using the Cochrane collaboration's risk of bias (RoB2) tool. Albatross plots were used to synthesise the data. RESULTS: Seven RCTs, examining motor function in a total of 202 children with CP, included. Four trials used the Quality of Upper Extremity Skills Test (QUEST) as an outcome measure, and three trials used grip strength. These outcome measures were utilised to develop two Albatross plots. Data from the plots showed contradictory findings of the included studies. CONCLUSIONS: The effect of VR in the upper limb rehabilitation of children with CP remains unclear. All included studies used commercial non-immersive VR games. Future high-quality clinical research is needed to explore the extent to which non-immersive and immersive VR is feasible and effective with children and adolescents.IMPLICATIONS FOR REHABILITATIONThe current evidence supporting the use of VR as a rehabilitative tool is weak and uncertain.The current use of VR relies only on commercial non-immersive VR (off-shelf) games, which are not adjustable to meet the demands and goals of therapy programmes.Future research is needed to study the therapeutic feasibility of immersive VR with children and adolescents.

Stomatin-deficient cryohydrocytosis results from mutations in SLC2A1: a novel form of GLUT1 deficiency syndrome.

The hereditary stomatocytoses are a series of dominantly inherited hemolytic anemias in which the permeability of the erythrocyte membrane to monovalent cations is pathologically increased. The causative mutations for some forms of hereditary stomatocytosis have been found in the transporter protein genes, RHAG and SLC4A1. Glucose transporter 1 (glut1) deficiency syndromes (glut1DSs) result from mutations in SLC2A1, encoding glut1. Glut1 is the main glucose transporter in the mammalian blood-brain barrier, and glut1DSs are manifested by an array of neurologic symptoms. We have previously reported 2 cases of stomatin-deficient cryohydrocytosis (sdCHC), a rare form of stomatocytosis associated with a cold-induced cation leak, hemolytic anemia, and hepatosplenomegaly but also with cataracts, seizures, mental retardation, and movement disorder. We now show that sdCHC is associated with mutations in SLC2A1 that cause both loss of glucose transport and a cation leak, as shown by expression studies in Xenopus oocytes. On the basis of a 3-dimensional model of glut1, we propose potential mechanisms underlying the phenotypes of the 2 mutations found. We investigated the loss of stomatin during erythropoiesis and find this occurs during reticulocyte maturation and involves endocytosis. The molecular basis of the glut1DS, paroxysmal exercise-induced dyskinesia, and sdCHC phenotypes are compared and discussed.