Atrial Fibrillation Health Literacy Questionnaire (AFHLQ): The development of an AF-specific health literacy questionnaire.

Background: Health literacy is a key enabler of effective behavioural modification in chronic diseases. While patient reported outcome measures (PROMs) exists for patient with atrial fibrillation (AF), none address risk factors comprehensively. The aim of the study was to develop and qualitatively validate a disease specific PROM that incorporates knowledge on risk factors and assesses interactive and critical health literacy of people living with AF.

Can social risks in early life predict children's health and academic outcomes? An analysis of the Longitudinal Study of Australian Children.

Exposure to social risk in early life negatively impacts the health and wellbeing of children. While screening for social determinants of health is recommended, there is little evidence that identifying social risk early in life predicts longer-term poorer outcomes. The purpose of this study is to examine the extent to which assessing social risk using a standardized tool in young children up to age 6 years might predict poor health and academic performance at 10-11 years old.

Barriers to digital health services among people living in areas of socioeconomic disadvantage: Research from hospital diabetes and antenatal clinics.

Issue Addressed: We sought to examine barriers to access to, use of, and benefits from digital health services in an area of socioeconomic disadvantage of Adelaide, Australia.

Methods: We conducted waiting room surveys in two hospital diabetes clinics and one hospital antenatal clinic in South Australia, and follow-up telephone interviews with 20 patients. We examined the extent of access to, use of and benefits from digital health services, and what barriers people encountered.

Capturing the social determinants of health at the individual level: a pilot study.

Unlabelled: Objective and importance of study: Considerable evidence suggests that adverse social determinants of health (SDH), such as poor education, unemployment, food and housing insecurity, interpersonal violence, inadequate social support and poverty, are key determinants of health and wellbeing. This prospective cohort study piloted a screening tool to collect individual SDH data in a South Australian hospital inpatient population. We explored participants' attitudes to SDH screening in brief follow-up interviews.

NKX2-1 mutation in a family diagnosed with ataxic dyskinetic cerebral palsy.

Benign hereditary chorea caused by mutations in the NK2 homeobox 1 gene (NKX2-1), shares clinical features with ataxic and dyskinetic cerebral palsy (CP), resulting in the possibility of misdiagnosis. A father and his two children were considered to have ataxic CP until a possible diagnosis of benign familial chorea was made in the children in early teenage. The father's neurological condition had not been appreciated prior to examination of the affected son.

Single-nucleotide polymorphism associations with preterm delivery: a case-control replication study and meta-analysis.

Background: The aim of this study was to replicate single-nucleotide polymorphism (SNP) associations with preterm birth (PTB; birth at <37 completed weeks of gestation) and synthesize currently available evidence using meta-analysis.

Methods: Spontaneous PTB cases and controls were selected from an existing cohort. Candidate SNPs were taken from an existing genotype panel.

Genetic and clinical contributions to cerebral palsy: a multi-variable analysis.

Aim: This study aims to examine single nucleotide polymorphism (SNP) associations with cerebral palsy in a multi-variable analysis adjusting for potential clinical confounders and to assess SNP-SNP and SNP-maternal infection interactions as contributors to cerebral palsy.

Methods: A case control study including 587 children with cerebral palsy and 1154 control children without cerebral palsy. Thirty-nine candidate SNPs were genotyped in both mother and child.

Rare copy number variation in cerebral palsy.

Recent studies have established the role of rare copy number variants (CNVs) in several neurological disorders but the contribution of rare CNVs to cerebral palsy (CP) is not known. Fifty Caucasian families having children with CP were studied using two microarray designs. Potentially pathogenic, rare (<1% population frequency) CNVs were identified, and their frequency determined, by comparing the CNVs found in cases with 8329 adult controls with no known neurological disorders.

ZC4H2 mutations are associated with arthrogryposis multiplex congenita and intellectual disability through impairment of central and peripheral synaptic plasticity.

Arthrogryposis multiplex congenita (AMC) is caused by heterogeneous pathologies leading to multiple antenatal joint contractures through fetal akinesia. Understanding the pathophysiology of this disorder is important for clinical care of the affected individuals and genetic counseling of the families. We thus aimed to establish the genetic basis of an AMC subtype that is associated with multiple dysmorphic features and intellectual disability (ID).

Cytomegalovirus and Epstein-Barr virus may be associated with some cases of cerebral palsy.

Objective: Intrauterine infection is a risk factor for cerebral palsy. Previous work reported a high frequency of viral DNA in newborn screening cards from cerebral palsy cases and controls possibly due to contamination.

Methods: Retrospective case-control study using improved methodologies to minimize contamination during PCR-based detection of viral DNA sequences.

Epidemiologic associations with cerebral palsy.

Objective: To estimate epidemiologic risk factors for cerebral palsy.

Methods: Data were collected by linkage to state-based perinatal repositories and cerebral palsy registers and using a maternal questionnaire. The cohort included 587 individuals with cerebral palsy and 1,154 non-cerebral palsy controls.

Comparison of DNA extraction methods from small samples of newborn screening cards suitable for retrospective perinatal viral research.

Reliable detection of viral DNA in stored newborn screening cards (NSC) would give important insight into possible silent infection during pregnancy and around birth. We sought a DNA extraction method with sufficient sensitivity to detect low copy numbers of viral DNA from small punch samples of NSC. Blank NSC were spotted with seronegative EDTA-blood and seropositive EBV EDTA-blood.

The Australian cerebral palsy research study--protocol for a national collaborative study investigating genomic and clinical associations with cerebral palsy.

Aim: Previous studies have proposed a link between the presence of specific single nucleotide polymorphisms (SNPs) and cerebral palsy and the majority of these associations remain to be confirmed or rejected by prospective studies with sufficient statistical power. Prior studies have also given little attention to the interaction of genomic characteristics and clinical risk factors.

Methods: This paper describes the design of a prospective case-control study to test these genetic associations in conjunction with more stringent data collection in respect to clinical features associated with pregnancy, particularly maternal infection.

DNA from buccal swabs suitable for high-throughput SNP multiplex analysis.

We sought a convenient and reliable method for collection of genetic material that is inexpensive and noninvasive and suitable for self-collection and mailing and a compatible, commercial DNA extraction protocol to meet quantitative and qualitative requirements for high-throughput single nucleotide polymorphism (SNP) multiplex analysis on an automated platform. Buccal swabs were collected from 34 individuals as part of a pilot study to test commercially available buccal swabs and DNA extraction kits. DNA was quantified on a spectrofluorometer with Picogreen dsDNA prior to testing the DNA integrity with predesigned SNP multiplex assays.

Genetic susceptibility to viral exposure may increase the risk of cerebral palsy.

Aim: Cytokine polymorphisms may alter the fetal inflammatory response, increasing susceptibility to cerebral palsy (CP). This study investigates associations between selected inflammatory mediator and cytokine gene polymorphisms (Toll-like receptor-4 (TLR-4) Asp299Gly, interleukin-6 G-174C and interleukin-4 C-589T) and CP from 443 CP infants and 883 control infants. Results were correlated with viral nucleic acids in the same samples.

Association between Apolipoprotein E genotype and cerebral palsy is not confirmed in a Caucasian population.

Apolipoprotein E (APOE) plays a significant role in lipid metabolism and has been implicated in the growth and repair of injured neurons. Two small studies have suggested an association between APOE genotype and cerebral palsy. We investigated if APOE genotype is associated with an increased risk for cerebral palsy, influences the type of cerebral palsy or interacts with prenatal viral infection to influence risk of cerebral palsy.