Insights into the Genetics of Clubfoot

Clubfoot, a common complex birth defect, affects 135,000 newborns each year worldwide. While tremendous strides have been made in treatment with the Ponsetti nonsurgical method, the post-treatment foot generally remains small with hypoplastic calf musculature. Even though clubfoot has been studied for more than 100 years, only a few contributing factors have been identified. Prenatal tobacco smoke exposure is the only consistently associated environmental factor and confers an increased risk in a dose dependent manner. Moreover, maternal smoking and a family history of clubfoot increases the risk 20-fold confirming that genetic factors play a role. Genetic studies have shown that variation in TBX4 and PITX1 cause syndromic forms of clubfoot; however, there is no evidence that variation in these genes contribute to nonsyndromic clubfoot. Recent work suggests that variants in the regulatory regions of muscle-specific genes play a role by subtly affecting gene expression and it is hypothesized that variation in the expression of multiple genes is necessary for clubfoot development. This mechanism is consistent with the multifactorial model first proposed for clubfoot over 50 years ago. Confirmation of this work should enable identification of unique gene risk signatures that will aid in genetic counseling. Next generation approaches should speed gene identification in clubfoot

Adherence to management guidelines for growth faltering and anaemia in remote dwelling Australian Aboriginal infants and barriers to health service delivery

Background: Remote dwelling Aboriginal infants from northern Australia have a high burden of disease and frequently use health services. Little is known about the quality of infant care provided by remote health services. This study describes the adherence to infant guidelines for anaemia and growth faltering by remote health staff and barriers to effective service delivery in remote settings. Methods: A mixed method study drew data from 24 semi-structured interviews with clinicians working in two remote communities in northern Australia and a retrospective cohort study of Aboriginal infants from these communities, born 2004-2006 (n = 398). Medical records from remote health centres were audited. The main outcome measures were the period prevalence of infants with anaemia and growth faltering and management of these conditions according to local guidelines. Qualitative data assessed clinicians' perspectives on barriers to effective remote health service delivery. Results: Data from 398 health centre records were analysed. Sixty eight percent of infants were anaemic between six and twelve months of age and 42% had documented growth faltering by one year. Analysis of the growth data by the authors however found 86% of infants experienced growth faltering over 12 months. Clinical management and treatment completion was poor for both conditions. High staff turnover, fragmented models of care and staff poorly prepared for their role were barriers perceived by clinicians' to impact upon the quality of service delivery. Conclusion: Among Aboriginal infants in northern Australia, malnutrition and anaemia are common and occur early. Diagnosis of growth faltering and clinicians' adherence to management guidelines for both conditions was poor. Antiquated service delivery models, organisation of staff and rapid staff turnover contributed to poor quality of care. Service redesign, education and staff stability must be a priority to redress serious deficits in quality of care provided for these infants