METHOD: This cross-sectional study assessed the level of general nutrition knowledge in a convenience sample of Australian carers (C) of people with ID and compared this to the general Australian community (CM). Nutrition knowledge was evaluated using the validated General Nutrition Knowledge Questionnaire. Total knowledge score as well as performance on instrument sub-sections (dietary guidelines, nutrient sources, healthy food choices and diet disease relationships) were assessed (expressed as %). Knowledge scores were adjusted for known confounders (age, sex, education level, BMI, living arrangement and English spoken at home) using generalised linear modelling.
RESULTS: A total of 589 participants were recruited (C: n = 40; CM: n = 549). Age (C: 40.8 ± 12.1 year; CM: 37.8 ± 13.3 years; P = 0.145), sex distribution (C: 62.5%; CM: 67.2% female; P = 0.602) and English spoken at home (C: 82.5%; CM: 89.6%; P = 0.183) were similar between groups, but BMI (C: 28.5 ± 5.7 kgm-2 ; CM: 25.3 kgm-2 ; P = 0.002) was significantly lower and tertiary education (C: 52.5%; CM: 85.1%; P
METHODS: This multicenter study addressed the course of disease for each organ system. Metabolic, neuroradiological, and genetic findings are reported.
RESULTS: Sixty-seven individuals (39 previously unreported) from 59 families were included (age range = 5 days-33.4 years, median age = 9 years). A total of 41 different SERAC1 variants were identified, including 20 that have not been reported before. With the exception of 2 families with a milder phenotype, all affected individuals showed a strikingly homogeneous phenotype and time course. Severe, reversible neonatal liver dysfunction and hypoglycemia were seen in >40% of all cases. Starting at a median age of 6 months, muscular hypotonia (91%) was seen, followed by progressive spasticity (82%, median onset = 15 months) and dystonia (82%, 18 months). The majority of affected individuals never learned to walk (68%). Seventy-nine percent suffered hearing loss, 58% never learned to speak, and nearly all had significant intellectual disability (88%). Magnetic resonance imaging features were accordingly homogenous, with bilateral basal ganglia involvement (98%); the characteristic "putaminal eye" was seen in 53%. The urinary marker 3-methylglutaconic aciduria was present in virtually all patients (98%). Supportive treatment focused on spasticity and drooling, and was effective in the individuals treated; hearing aids or cochlear implants did not improve communication skills.
INTERPRETATION: MEGDHEL syndrome is a progressive deafness-dystonia syndrome with frequent and reversible neonatal liver involvement and a strikingly homogenous course of disease. Ann Neurol 2017;82:1004-1015.