BackgroundExercise is generally recommended for people with type 2 diabetes mellitus. However, some studies evaluate an exercise intervention including diet or behaviour modification or both, and the effects of diet and exercise are not differentiated. Some exercise studies involve low participant numbers, lacking power to show significant differences which may appear in larger trials. ObjectivesTo assess the effects of exercise in type 2 diabetes mellitus. Search strategyTrials were identified through the Cochrane Central Register of Controlled Trials (CENTRAL), MEDLINE, EMBASE and manual searches of bibliographies. Date of last search was March 3, 2005. Selection criteriaAll randomised controlled trials comparing any type of well-documented aerobic, fitness or progressive resistance training exercise with no exercise in people with type 2 diabetes mellitus. Data collection and analysisTwo authors independently selected trials, assessed trial quality and extracted data. Study authors were contacted for additional information. Any information on adverse effects was collected from the trials. Main resultsFourteen randomised controlled trials comparing exercise against no exercise in type 2 diabetes were identified involving 377 participants. Trials ranged from eight weeks to twelve months duration. Compared with the control, the exercise intervention significantly improved glycaemic control as indicated by a decrease in glycated haemoglobin levels of 0.6% (-0.6 % HbA 1c , 95% confidence interval (CI) -0.9 to -0.3; P < 0.05). This result is both statistically and clinically significant. There was no significant difference between groups in whole body mass, probably due to an increase in fat free mass (muscle) with exercise, as reported in one trial (6.3 kg, 95% CI 0.0 to 12.6). There was a reduction in visceral adipose tissue with exercise (-45.5 cm 2 , 95% CI -63.8 to -27.3), and subcutaneous adipose tissue also decreased. No study reported adverse effects in the exercise group or diabetic complications. The exercise intervention significantly increased insulin response (131 AUC, 95% CI 20 to 242) (one trial), and decreased plasma triglycerides (-0.25 mmol/L, 95% CI -0.48 to -0.02). No significant difference was found between groups in quality of life (one trial), plasma cholesterol or blood pressure. Authors' conclusionsThe meta-analysis shows that exercise significantly improves glycaemic control and reduces visceral adipose tissue and plasma triglycerides, but not plasma cholesterol, in people with type 2 diabetes, even without weight loss.

BackgroundFamilies of children living with a rare disease report significant health and social burden, however, few studies have systematically examined family needs by using validated tools to assess the scope and extent of this burden. Our aim was to develop a comprehensive survey to assess health, psychosocial and financial impacts on Australian families caring for a child with a rare disease.MethodsWe developed a self-administered survey for parents/carers incorporating pre-validated tools. The survey included questions about experiences of diagnosis, health services use and needs, needs for peer and financial supports. Forty-seven families attending the state-wide Genetic Metabolic Disorders Service at the Children’s Hospital at Westmead, Sydney were invited to participate.ResultsOf 46 families who received the survey, 30 (65%) completed it. Most (93%) found the survey acceptable and relevant (91%). Patients were 1–17 years old, 14 (47%) male, and 12 (40%) non-Caucasian. Eighteen (60%) had a lysosomal storage disease and 12(40%) had a mitochondrial disorder. Eleven (38%) saw 3–5 doctors and four (14%) saw 6–10 doctors before receiving the correct diagnosis; 43% felt diagnosis was delayed. Four (13%) were dissatisfied with the way diagnosis was given, due to insensitive style of communication, inadequate information and psychological support. Psychosocial impact was moderate to high for 90% of families and the level of impact was not dependent on the level of health functioning of the child. Twenty-six (87%) wanted, but only 13(43%) received, information about peer-support groups. The 30 children accounted for 168 visits to general practitioners and 260 visits to specialist doctors; 21 (70%) children had at least one admission to hospital, including one who had 16 admissions in the previous 12 months. Most families (77%) received financial assistance but 52% believed this was insufficient. Families benefited from a specialised multi-disciplinary clinic but called for patient-held electronic medical records.ConclusionsAustralian families caring for children with genetic metabolic disorders are adversely impacted by delays in diagnosis, lack of easy access to peer support groups and lack of psychological support. Further research is needed to estimate economic impact and to analyse health service delivery models for children with rare diseases in Australia.

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BackgroundChildren and families living with rare disease often experience significant health, psychosocial, economic burdens and diagnostic delays. Experiences appear to be constant, regardless of the specific rare disease diagnosis. Systematically collected Australian data to support policy response on rare diseases are scarce. We address this gap by providing survey results about 462 children aged <19 years living with approximately 200 different rare diseases.ResultsOf 462 children, 96% were born in Australia, 55% were male, median age was 8.9 years (0–18.2). Four-hundred-and-twenty-eight (93%) had received a definitive diagnosis but 29 (7%) remained undiagnosed. Before receiving the correct diagnosis 38% consulted ≥ 6 different doctors. Among those with a diagnosis, 37% believed the diagnosis was delayed and 27% initially received a wrong diagnosis. Consequences of delayed diagnosis include anxiety, loss of reproductive confidence because of an ill-defined genetic risk, frustration and stress (54%), disease progression (37%), delays in treatment (25%) and inappropriate treatments (10%). Perceived reasons for diagnostic delays included lack of knowledge about the disease among health professionals (69.2%), lack of symptom awareness by the family (21.2%) and difficulties accessing tests (17.9%). Children with inborn errors of metabolism were less likely to have a delayed diagnosis compared with other disease groups (Chi-Sq = 17.1; P < 0.0001), most likely due to well-established and accessible biochemical screening processes. Diagnosis was given in person in 74% of cases, telephone in 18.5% and via a letter in 3.5%. Some families (16%) were dissatisfied with the way the diagnosis was delivered, citing lack of empathy and lack of information from health professionals. Psychological support at diagnosis was provided to 47.5%, but 86.2% believed that it should always be provided. Although 74.9% of parents believed that the diagnosis could have an impact on future family planning, only 44.8% received genetic counselling.ConclusionParents of children living with rare chronic and complex diseases have called for better education, resourcing of health professionals to prevent avoidable diagnostic delays, and to facilitate access to early interventions and treatments. Access to psychological support and genetic counselling should be available to all parents receiving a life-changing diagnosis for their child.Electronic supplementary materialThe online version of this article (doi:10.1186/s13023-017-0622-4) contains supplementary material, which is available to authorized users.

Objective: To measure the knowledge, attitudes and practices of health professionals regarding fetal alcohol syndrome (FAS) and alcohol use during pregnancy. Method: A postal survey of a representative random sample of health professionals was conducted in Western Australia (WA) in 2002/03. 1,143 (79%) of 1,443 eligible health professionals completed the survey (87 Aboriginal Health Workers, 286 allied health professionals, 537 community nurses, 170 general practitioners and 63 obstetricians). Results: Of 1,143 health professionals, 12% identified all four essential diagnostic features of FAS. Most (95%) had never diagnosed FAS. Although 82% believed that making a diagnosis of FAS might improve treatment plans and 85% agreed FAS was preventable, 53% said the diagnosis might be stigmatising. Only 2% felt very prepared to deal with FAS and most wanted information for themselves and their clients. Of the 659 health professionals caring for pregnant women, only 45% routinely ask about alcohol use in pregnancy, only 25% routinely provide information on the consequences of alcohol use in pregnancy and only 13% provide advice consistent with NHMRC guidelines on alcohol consumption in pregnancy. Conclusion: Health professionals have identified the need for educational materials for themselves and their clients. Implications: FAS is likely to be under‐ascertained in Australia due to a lack of knowledge of FAS by health professionals. Until this lack of knowledge is addressed, opportunities for diagnosis and prevention of FAS will be limited.

BackgroundThis paper presents drinking patterns in a prospective study of a population-based cohort of 1570 pregnant women using a combination of dose and timing to give best estimates of prenatal alcohol exposure (PAE). Novel assessments include women’s special occasion drinking and alcohol use prior to pregnancy recognition.MethodsInformation on up to nine types of alcoholic drink, with separate frequencies and volumes, including drinking on special occasions outside a ‘usual’ pattern, was collected for the periconceptional period and at four pregnancy time points. Weekly total and maximum alcohol consumption on any one occasion was calculated and categorised. Drinking patterns are described in the context of predictive maternal characteristics.Results41.3 % of women did not drink during pregnancy, 27 % drank in first trimester only; most of whom stopped once they realised they were pregnant (87 %). When compared to women who abstained from alcohol when pregnant, those who drank in the first trimester only were more likely to have an unplanned pregnancy and not feel the effects of alcohol quickly. Almost a third of women continued to drink alcohol at some level throughout pregnancy (27 %), around half of whom never drank more than at low or moderate levels. When compared with abstainers and to women who only drank in trimester one, those who drank throughout pregnancy tended to be in their early to mid-thirties, smoke, have a higher income and educational attainment.Overall, almost one in five women (18.5 %) binge drank prior to pregnancy recognition, a third of whom were identified with a question about ‘special occasion’ drinking. Women whose age at first intoxication was less than 18 years (the legal drinking age in Australia), were significantly more likely to drink in pregnancy and at binge levels prior to pregnancy recognition.ConclusionsWe have identified characteristics of pregnant women who either abstain, drink until pregnancy awareness or drink throughout pregnancy. These may assist in targeting strategies to enhance adherence to an abstinence policy and ultimately allow for appropriate follow-up and interpretation of adverse child outcomes. Our methodology also produced important information to reduce misclassification of occasional binge drinking episodes and ensure clearly defined comparison groups.

Conclusions-Linking national surveillance with a specialised laboratory service allowed estimation of HUS incidence and provided information on its aetiology. In contrast to North America, Japan, and the British Isles, STEC O157:H7 is rare in Australia; however, non-O157:H7 STEC cause severe disease including outbreaks. Disease severity in outbreak cases may relate to yet unidentified virulence factors of the O111:H− strain isolated. (Arch Dis Child 2001;85:125-131)