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Protocol for establishing a core outcome set for evaluation in studies of pulmonary exacerbations in people with cystic fibrosis

Pulmonary exacerbations are associated with increased morbidity and mortality in people with cystic fibrosis (CF). There is no consensus about which outcomes should be evaluated in studies of pulmonary exacerbations or how these outcomes should be measured.

Exploring genotype-phenotype relationships in the CDKL5 deficiency disorder using an international dataset

Characterized by early-onset seizures, global developmental delay and severe motor deficits, CDKL5 deficiency disorder is caused by pathogenic variants in the cyclin-dependent kinase-like 5 gene. Previous efforts to investigate genotype-phenotype relationships have been limited due to small numbers of recurrent mutations and small cohort sizes. Using data from the International CDKL5 Disorder Database we examined genotype-phenotype relationships for 13 recurrent CDKL5 variants and the previously analyzed historic variant groupings. We have applied the CDKL5 Developmental Score (CDS) and an adapted version of the CDKL5 Clinical Severity Assessment (CCSA), to grade the severity of phenotype and developmental outcomes for 285 individuals with CDKL5 variants.

Clinical protocol for a longitudinal cohort study to identify markers of vaccine immunogenicity in newborn infants in the gambia and papua New Guinea

Immunity is distinct in early life and greater precision is required in our understanding of mechanisms of early life protection to inform development of new pediatric vaccines

RE-AIM evaluation of a teacher-delivered programme to improve the self-regulation of children attending Australian Aboriginal community primary schools

Benefits in teaching the Alert Program® to students in a region with high reported rates of foetal alcohol spectrum disorder and self-regulation impairment

The misnomer of ‘high functioning autism’: Intelligence is an imprecise predictor of functional abilities at diagnosis

We argue that 'high functioning autism' is an inaccurate clinical descriptor when based solely on intelligence quotient demarcations

The incidence, prevalence and clinical features of MECP2 duplication syndrome in Australian children

MECP2 duplication syndrome is a rare but important diagnosis in children because of the burden of respiratory illness and recurrence risk

Timeliness and factors associated with rotavirus vaccine uptake among Australian Aboriginal and non-Aboriginal children: A record linkage cohort study

Aboriginal children are at greater risk of rotavirus disease than non-Aboriginal children and delayed vaccine receipt is substantially higher

Safety and immunogenicity of pneumococcal conjugate vaccines in a high-risk population: a randomised controlled trial of PCV in Papua New Guinean infants

Infant vaccination with 3 doses of PCV10 or PCV13 is safe and immunogenic in a highly endemic setting

Patterns of sedentary time and ambulatory physical activity in a Danish population of girls and women with Rett syndrome

High levels of sedentary time and low daily step counts in a Danish population of females with Rett syndrome

Parent-observed thematic data on quality of life in children with autism spectrum disorder

Parent observations provide an initial framework for understanding quality of life in autism spectrum disorder