Malnutrition and neurodisability are both major public health problems in Africa. This review highlights key areas where they interact. This happens throughout life and starts with maternal malnutrition affecting fetal neurodevelopment with both immediate (eg, folate deficiency causing neural tube defects) and lifelong implications (eg, impaired cognitive function). Maternal malnutrition can also increase the risk of perinatal problems, including birth asphyxia, a major cause of neurologic damage and cerebral palsy. Macronutrient malnutrition can both cause and be caused by neurodisability. Mechanisms include decreased food intake, increased nutrient losses, and increased nutrient requirement. Specific micronutrient deficiencies can also lead to neurodisability, for example, blindness (vitamin A), intractable epilepsy (vitamin B6), and cognitive impairment (iodine and iron). Toxin ingestion (eg, from poorly processed cassava) can cause neurodisability including a peripheral polyneuropathy and a spastic paraparesis. We conclude that there is an urgent need for nutrition and disability programs to work more closely together.

Neurodevelopmental delay, neurodisability, and malnutrition interact to contribute a significant burden of disease in global settings. Assessments which are well integrated with plans of management or advice are most likely to improve outcomes. Assessment tools used in clinical research and programming to evaluate outcomes include developmental and cognitive tools that vary in complexity, sensitivity, and validity as well as the target age of assessment. Few tools have been used to measure socioemotional outcomes and fewer to assess the disabled child with malnutrition. There is a paucity of tools used clinically which actually provide families and professionals with advice to improve outcomes. Brain imaging, electroencephalography, audiology, and visual assessment can also be used to assess the effect of malnutrition on brain structure and function. The interaction of neurodisability and malnutrition is powerful, and both need to be considered when assessing children. Without an integrated approach to assessment and management, we will not support children and families to reach their best potential outcomes.

Objective To assess differences in cognition functions and gross brain structure in children 7-years after an episode of severe acute malnutrition (SAM), compared to other Malawian children. Design Prospective longitudinal cohort assessing school grade achieved and results of five computer-based (CANTAB) tests, covering three cognitive domains. A subset underwent brain MRI scans which were reviewed using a standardised checklist of gross abnormalities and compared to a reference population of Malawian children. Setting Blantyre, Malawi Subjects Children discharged from SAM treatment in 2006 and 2007 (n=320; median age 9.3 years) were compared to controls: siblings closest in age to the SAM survivors and age/sex – matched community children. Results SAM survivors were significantly more likely to be in a lower grade at school than controls (adjusted OR 0.4, 95% CI 0.3to 0.6, p<0.0001); and had consistently poorer scores in all CANTAB cognitive tests. Adjusting for HIV and socio-economic status diminished statistically significant differences. There were no significant difference in odds of brain abnormalities and sinusitis between SAM survivors (n=49) and reference children (OR 1.11, 95% CI 0.61 to 2.03, p=0.73). Conclusion Despite apparent preservation in gross brain structure, persistent impaired school achievement is likely to be detrimental to individual attainment and economic well-being. Understanding the multifactorial causes of lower school achievement is therefore needed to design interventions for SAM survivors to thrive in adulthood. The cognitive and potential economic implications of SAM need further emphasis to better advocate for SAM prevention and early treatment.

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Background Duchenne Muscular Dystrophy (DMD) is the most prevalent and lethal of the inherited dystrophies.  Globally, the incidence is reported at 1 in 3500 live male births. There is currently no cure for the disease. With the possibility of gene therapy becoming available, patients who would qualify for such treatment need to be identified. Further, understanding disease expression in a population is essential to focus targeted interventions, such as corticosteroids, to ensure they are safe and effective in the local setting. By maintaining a DMD specific disease registry this information can be attained. Objective: This report describes the concept and design of the first South African DMD disease registry using Research Electronic Data Capture (REDCap)  Methods: The registry was developed using REDCap’s web-based online design, accessed through the Clinical Research Centre (CRC) in the Faculty of Health Sciences at the University of Cape Town.  Electronic case report forms were created from these clinical data using REDCap and for specific variables serial entries were possible relating to disease progression. International data standards were adopted as proposed by TREAT-NMD, a global network of registries on DMD to ensure our data is compatible with this and other international registries. Results: Retrospective data entry combined with dynamic prospective recording of data was utilized in this project. Building on an existing database, 100 confirmed DMD boys are currently eligible for inclusion into the registry.  As our registry is an on-going study, sequential analysis of accumulated data will be done going forward to review trends on our patients with DMD.   Conclusions: This report describes the concept and design of a DMD registry and the steps followed to its establishment with REDCap. The focus is to consolidate clinical and genetic information on South African patients with DMD, commencing with the local centre’s patient cohort but rolling out access to other South African centres to create a national resource, which is internationally relevant.  Ideally this template could be duplicated in the conceptualisation of disease registries for other key conditions.