Screening, assessment and management of type 2 diabetes mellitus in children and adolescents: Australasian Paediatric Endocrine Group guidelines.

INTRODUCTION: The incidence of type 2 diabetes mellitus has increased in children and adolescents due largely to the obesity epidemic, particularly in high risk ethnic groups. ß-Cell function declines faster and diabetes complications develop earlier in paediatric type 2 diabetes compared with adult-onset type 2 diabetes. There are no consensus guidelines in Australasia for assessment and management of type 2 diabetes in paediatric populations and health professionals have had to refer to adult guidelines. Recent international paediatric guidelines did not address adaptations to care for patients from Indigenous backgrounds. MAIN RECOMMENDATIONS: This guideline provides advice on paediatric type 2 diabetes in relation to screening, diagnosis, diabetes education, monitoring including targets, multicomponent healthy lifestyle, pharmacotherapy, assessment and management of complications and comorbidities, and transition. There is also a dedicated section on considerations of care for children and adolescents from Indigenous background in Australia and New Zealand. CHANGES IN MANAGEMENT AS A RESULT OF THE GUIDELINES: Published international guidelines currently exist, but the challenges and specifics to care for children and adolescents with type 2 diabetes which should apply to Australasia have not been addressed to date. These include: recommendations regarding care of children and adolescents from Indigenous backgrounds in Australia and New Zealand including screening and management; tighter diabetes targets (glycated haemoglobin, ≤ 48 mmol/mol [≤ 6.5%]) for all children and adolescents; considering the use of newer medications approved for adults with type 2 diabetes under the guidance of a paediatric endocrinologist; and the need to transition adolescents with type 2 diabetes to a diabetes multidisciplinary care team including an adult endocrinologist for their ongoing care.

Comprehensive genetic screening: The prevalence of maturity-onset diabetes of the young gene variants in a population-based childhood diabetes cohort.

BACKGROUND: Maturity-onset diabetes of the young (MODY) is caused by autosomal dominant mutations in one of 13 confirmed genes. Estimates of MODY prevalence vary widely, as genetic screening is usually restricted based on clinical features, even in population studies. We aimed to determine prevalence of MODY variants in a large and unselected pediatric diabetes cohort. METHODS: MODY variants were assessed using massively parallel sequencing in the population-based diabetes cohort (n = 1363) of the sole tertiary pediatric diabetes service for Western Australia (population 2.6 million). All individuals were screened, irrespective of clinical features. MODY variants were also assessed in a control cohort (n = 993). RESULTS: DNA and signed consent were available for 821 children. Seventeen children had pathogenic/likely pathogenic variants in MODY genes, two diagnosed with type 2 diabetes, four diagnosed with antibody-negative type 1 diabetes (T1DM), three diagnosed with antibody-positive T1DM, and eight previously diagnosed with MODY. Prevalence of MODY variants in the sequenced cohort was 2.1%, compared to 0.3% of controls. CONCLUSIONS: This is the first comprehensive study of MODY variants in an unselected population-based pediatric diabetes cohort. The observed prevalence, increasing access to rapid and affordable genetic screening, and significant clinical implications suggest that genetic screening for MODY could be considered for all children with diabetes, irrespective of other clinical features.

High incidence of obesity co-morbidities in young children: a cross-sectional study.

AIM: The prevalence of overweight and obesity in children is a public health problem because of future morbidity. However, the prevalence of medical complications in overweight and obese primary school children in Australia is not well documented. As part of the larger, prospective cohort Growth and Development Study, this report aimed to identify the medical complications of obesity in a population-based community sample of primary school-aged children. METHODS: Two groups of primary school children were studied: a random community sample of overweight/obese children (not seeking treatment) and a matched community sample of normal weight children. Demographics, medical history, family history and symptoms of complications of overweight were collected. Children had a physical examination, oral glucose tolerance tests with insulins, fasting lipid profiles and liver function tests. RESULTS: Data from 283 children are presented (6.1-13.4 years, mean 9.8 years). There were no differences in birth data, family composition, parental age or socio-economic status between groups. Overweight and obese children were more likely to complain of musculoskeletal pain, depression, anxiety and bullying, and had more adverse examination findings than control children. They also had more abnormal investigations: overweight children: impaired glucose tolerance (IGT) 1.3%, hyperinsulinism 19.5%, dyslipidaemia 63.8%, raised alanine transaminase (ALT) 9.0%; obese children: IGT 5.3%, hyperinsulinism 38.9%, dyslipidaemia 73.7%, raised ALT 31.6%. CONCLUSION: Overweight and obese primary school-aged children have significant medical complications of their weight status. Overweight children, in addition to obese children, should be screened for complications. A secondary finding is a high proportion of normal weight children with lipid levels outside desirable healthy ranges.