Guidelines for diagnosis and management of the cobalamin-related remethylation disorders cblC, cblD, cblE, cblF, cblG, cblJ and MTHFR deficiency

BACKGROUND: Remethylation defects are rare inherited disorders in which impaired remethylation of homocysteine to methionine leads to accumulation of homocysteine and perturbation of numerous methylation reactions. OBJECTIVE: To summarise clinical and biochemical characteristics of these severe disorders and to provide guidelines on diagnosis and management. DATA SOURCES: Review, evaluation and discussion of the medical literature (Medline, Cochrane databases) by a panel of experts on these rare diseases following the GRADE approach. KEY RECOMMENDATIONS: We strongly recommend measuring plasma total homocysteine in any patient presenting with the combination of neurological and/or visual and/or haematological symptoms, subacute spinal cord degeneration, atypical haemolytic uraemic syndrome or unexplained vascular thrombosis. We strongly recommend to initiate treatment with parenteral hydroxocobalamin without delay in any suspected remethylation disorder; it significantly improves survival and incidence of severe complications. We strongly recommend betaine treatment in individuals with MTHFR deficiency; it improves the outcome and prevents disease when given early

Efficacy of Fun to Learn for the Young Program: Randomized Controlled Trial

Early intervention for children from disadvantaged backgrounds has been found to be effective in improving their learning and psychosocial outcomes. This study aimed to evaluate the efficacy of the Fun to Learn for the Young (FLY) program using randomized controlled trial design with no blinding of participants. Participants included 200 Hong Kong Chinese parent-child dyads (intervention:101; control: 99) with children aged 18 months from disadvantaged backgrounds. Participants were recruited from three non-governmental organizations. The intervention group participated in the 60-session FLY program which consisted of direct teaching to children and parent training. Parent participants from both groups completed questionnaires on child learning, child behavior and parenting before the intervention, at the end of 40 sessions, and 60 sessions. The children were individually assessed on their preschool concepts and language skills at these three time points. Results indicated that the children in the intervention group made more gains in preschool concepts, language skills, school readiness and motivation, compared with control group children (eta (p) (2) = .018-.029). The results provided some initial evidence that the FLY program was an effective early intervention program in promoting child learning.Department of Applied Social Sciences2016-2017 > Academic research: refereed > Publication in refereed journalbcr