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Peter Jacoby

Biostatistician

BA (Hons) MSc

peter.jacoby@telethonkids.org.au

Peter Jacoby is a senior biostatistician working for the Child Disability research group. He has over 30 years of experience working with mathematics in academic and industrial settings and has been at The Kids Research Institute Australia (The Kids) since 2003. In 2013, he was appointed to an adjunct Associate Professor position at the University of Western Australia. At The Kids, his primary role is the provision of statistical leadership for research studies conducted by research groups across the campus. This consists of consultation with clinicians and other researchers on study design, appropriate statistical analysis and interpretation of results, performing analyses where appropriate, supervision of analysts, and preparation of research papers for publication. His work has supported many areas of research at The Kids including intellectual disability, infectious diseases, mental health and autism, spatial epidemiology, Aboriginal health, dietary and environmental exposures, adverse birth outcomes and child maltreatment. 

Recently Peter has worked exclusively in the area of child disability and was the senior biostatistician involved in the development and validation of the Quality of Life Inventory-Disability (QI-Disability), a bespoke quality of life measure for children with intellectual disability. He is currently the statistician for a collaborative project funded by the US National Institutes for Health (NIH) whose aim is to develop and validate outcome measures for use in future clinical trials of treatments for children with CDKL5 deficiency disorder.

He has been a chief investigator on six National Health and Medical Research Council (NHMRC) grants and an author on over 150 publications in peer reviewed journals.   

Projects

Influenza vaccination in Western Australian children: an economic evaluation to inform future state and national programs

Public Health Approach to Child Abuse and Neglect: Antecedents and Outcomes

AusVaxSafety

A study to determine the safety and immunogenicity of 10-valent and 13-valent pneumococcal conjugate vaccines in Papua New Guinean children

TALK (Testosterone and Language in Kids) Study

Investigating the relationships between sun exposure and cardiometabolic dysfunction

Multi-site validation of a suite of clinical outcome measures for clinical trial readiness in the CDKL5 Deficiency Disorder

Does gastrostomy improve the lives of children with severe disability and their families?

Approximately 13,000 children in Australia live with moderate to severe intellectual disability.

Characterising quality of life and its determinants for children with intellectual disability and their families

A process and impact evaluation of use of a Powered Wheelchair Standing Device by boys with Duchenne muscular dystrophy

Immunogenicity of pneumococcal vaccine schedules in high-risk infants in Papua New Guinea

Published research

Psychometric evaluation of clinician- and caregiver-reported clinical severity assessments for individuals with CDKL5 deficiency disorder

The CDKL5 Clinical Severity Assessment is a comprehensive, content-validated measurement tool capturing the diverse challenges of cyclin-dependent kinase-like 5 deficiency disorder, a genetically caused developmental epileptic encephalopathy. The CCSA is divided into clinician-reported and caregiver-reported assessments. The aim of this study was to evaluate the factor structure of these measures through confirmatory factor analysis and evaluate their validity and reliability.

Parent-reported outcome measures evaluating communication in individuals with rare neurodevelopmental disorders: A systematic review

Communication impairments are a leading concern for parent caregivers of individuals with rare neurodevelopmental disorders. Clinical trials of disease modifying therapies require valid and responsive outcome measures that are relevant to individuals with RNDDs. Identifying and evaluating current psychometric properties for communication measures is a critical step towards the selection and use of appropriate instruments. 

Risk of otitis media in offspring following maternal prenatal stress exposure

There is limited but consistent evidence that suggests prenatal factors, including maternal stress, may contribute to susceptibility for otitis media. We aimed to determine the effect of multiple life stress events during pregnancy on risk of acute and recurrent otitis media in offspring at three and five years of age. 

Effects of ganaxolone on non-seizure outcomes in CDKL5 Deficiency Disorder: Double-blind placebo-controlled randomized trial

CDKL5 deficiency disorder (CDD) is a rare developmental and epileptic encephalopathy. Ganaxolone, a neuroactive steroid, reduces the frequency of major motor seizures in children with CDD. This analysis explored the effect of ganaxolone on non-seizure outcomes. 

Psychometric Properties of the EQ-5D-Y-5L for Children With Intellectual Disability

The EQ-5D-Y-5L is a generic preference-based measure of health-related quality of life for children. This study aimed to describe the distributional properties, test-retest reliability, and convergent validity of the EQ-5D-Y-5L in children with intellectual disability (ID). 

Communication of individuals with CDKL5 deficiency disorder as observed by caregivers: A descriptive qualitative study

CDKL5 deficiency disorder (CDD) is a genetically caused developmental epileptic encephalopathy that causes severe communication impairments. Communication of individuals with CDD is not well understood in the literature and currently available measures are not well validated in this population. Accurate and sensitive measurement of the communication of individuals with CDD is important for understanding this condition, clinical practice, and upcoming interventional trials. 

Adapting a measure of gross motor skills for individuals with CDKL5 deficiency disorder: A psychometric study

Validated measures capable of demonstrating meaningful interventional change in the CDKL5 deficiency disorder (CDD) are lacking. The study objective was to modify the Rett Syndrome Gross Motor Scale (RSGMS) and evaluate its psychometric properties for individuals with CDD.

Interobserver Agreement When Diagnosing Hypoventilation in Children With Neuromuscular Disorders

Neuromuscular disorders can lead to nocturnal hypoventilation. Accurate diagnosis of hypoventilation is imperative to guide treatment decisions. This study determined interobserver agreement for a number of definitions of nocturnal hypoventilation in children and adolescents with neuromuscular disorders.

Safety, tolerability, and effect of a single aural dose of Dornase alfa at the time of ventilation tube surgery for otitis media: A Phase 1b double randomized control trial

One third of children require repeat ventilation tube insertion (VTI) for otitis media. Disease recurrence is associated with persistent middle ear bacterial biofilms. With demonstration that Dornase alfa (a DNase) disrupts middle ear effusion biofilms ex vivo, we identified potential for this as an anti-biofilm therapy to prevent repeat VTI. First, safety and tolerability needed to be measured.

How Well Does the EQ-5D-Y-5L Describe Children With Intellectual Disability?: “There's a Lot More to My Child Than That She Can't Wash or Dress Herself.”

The EQ-5D-5L is a generic health utility instrument for measuring health-related quality of life (HRQoL), with self-report and proxy report versions for children (EQ-5D-Y-5L). Children with intellectual disability (ID) are a heterogeneous population whose impairments and comorbidities place them at risk of poor HRQoL. This study aimed to describe the content validity and suitability for children with ID of a proxy report version of the EQ-5D-Y-5L as seen by their caregivers.

Influenza vaccination in Western Australian children: Exploring the health benefits and cost savings of increased vaccine coverage in children

To assess potential benefits and direct healthcare cost savings with expansion of an existing childhood influenza immunisation program, we developed a dynamic transmission model for the state of Western Australia, evaluating increasing coverage in children < 5 years and routinely immunising school-aged children.

The development, content and response process validation of a caregiver-reported severity measure for CDKL5 deficiency disorder

CDKL5 Deficiency Disorder (CDD) is a severe X-linked developmental and epileptic encephalopathy. Existing developmental outcome measures have floor effects and cannot capture incremental changes in symptoms. We modified the caregiver portion of a CDD clinical severity assessment (CCSA) and assessed content and response-process validity. 

Long-term outcomes of symptomatic optic pathway glioma: 32-year experience at a single Western Australian tertiary pediatric oncology center

Optic pathway gliomas (OPGs) are associated with significant risk of visual and endocrine morbidity, but data on long-term outcomes in symptomatic patients is sparse. This study reviews the clinical course, disease progression, survival outcomes and long-term sequelae in pediatric patients with symptomatic OPGs in our institution over three decades.

Pneumococcal carriage, serotype distribution, and antimicrobial susceptibility in Papua New Guinean children vaccinated with PCV10 or PCV13 in a head-to-head trial

Children in Papua New Guinea (PNG) are at high risk of pneumococcal infections. We investigated pneumococcal carriage rates, serotype distribution, and antimicrobial susceptibility in PNG children after vaccination with 10-valent or 13-valent pneumococcal conjugate vaccines (PCV10; PCV13).

Validating the Communication and Symbolic Behavior Scales–Developmental Profile Infant–Toddler Checklist (CSBS–DP ITC) Beyond Infancy in the CDKL5 Deficiency Disorder

CDKL5 deficiency disorder (CDD) results in early-onset epilepsy and lifelong cognitive and motor impairments. With no validated measure for communication in CDD, this study evaluated the psychometric properties of the Communication and Symbolic Behavior Scales-Developmental Profile Infant Toddler Checklist.

Modelling quality of life in children with intellectual disability using regression trees

To identify factors associated with quality of life (QoL) in children with intellectual disability. We aimed to identify patterns of association not observable in previous hypothesis-driven regression modelling using the same data set from a cross-sectional observational study.

Early onset of otitis media is a strong predictor of subsequent disease in urban Aboriginal infants: Djaalinj Waakinj cohort study

Australian Aboriginal and/or Torres Strait Islander children in rural/remote areas suffer high rates of persistent otitis media (OM) from early infancy. We aimed to determine the proportion of Aboriginal infants living in an urban area who have OM and investigate associated risk factors.

Psychometric properties of QI-Disability in CDKL5 Deficiency Disorder: Establishing readiness for clinical trials

CDKL5 Deficiency Disorder (CDD) is a rare genetic disorder with symptoms of epilepsy, developmental impairments, and other comorbidities. Currently, there are no outcome measures for CDD with comprehensive evidence of validation. This study aimed to evaluate the psychometric properties of the Quality of Life Inventory-Disability (QI-Disability) in CDD. Quality of Life Inventory-Disability was administered to 152 parent caregivers registered with the International CDKL5 Disorder Database (ICDD).

Quality of life beyond diagnosis in intellectual disability – Latent profiling

To compare quality of life (QOL) across diagnoses associated with intellectual disability, construct QOL profiles and evaluate membership by diagnostic group, function and comorbidities.

Devising a Missing Data Rule for a Quality of Life Questionnaire - A Simulation Study

The aim of this study was to devise an evidence-based missing data rule for the Quality of Life Inventory-Disability (QI-Disability) questionnaire specifying how many missing items are permissible for domain and total scores to be calculated using simple imputation.

Initial Validation and Reliability of the CDKL5 Deficiency Disorder Hand Function Scale (CDD-Hand)

Pathogenic variants in the CDKL5 gene result in CDKL5 deficiency disorder (CDD), which is characterized by early-onset epilepsy, severe developmental delay, and often, cortical visual impairment. Validated clinical outcome measures are needed for future clinical trials to be successful. This study aimed to adapt the Rett Syndrome Hand Function Scale for CDKL5 deficiency disorder and evaluate its feasibility, acceptability, content validity, and reliability.

Negative impact of insomnia and daytime sleepiness on quality of life in individuals with the cyclin-dependent kinase-like 5 deficiency disorder

Cyclin-dependent kinase-like 5 (CDKL5) gene pathogenic variants result in CDKL5 deficiency disorder (CDD). Early onset intractable epilepsy and severe developmental delays are prominent symptoms of CDD. Comorbid sleep disturbances are a major concerning symptom for families.

Daytime sleepiness and emotional and behavioral disturbances in Prader-Willi syndrome

Individuals with Prader-Willi syndrome (PWS) often have excessive daytime sleepiness and emotional/behavioral disturbances. The objective of this study was to examine whether daytime sleepiness was associated with these emotional/behavioral problems, independent of nighttime sleep-disordered breathing, or the duration of sleep.

Energy drink intake is associated with insomnia and decreased daytime functioning in young adult females

To investigate the association between energy drink (ED) use and sleep-related disturbances in a population-based sample of young adults from the Raine Study.

Modifiable child and caregiver factors that influence community participation among children with Down syndrome

To investigate modifiable child and caregiver factors influencing community participation among children with Down syndrome.

Associations Between Hyperphagia, Symptoms of Sleep Breathing Disorder, Behaviour Difficulties and Caregiver Well-Being in Prader-Willi Syndrome: A Preliminary Study

Prader-Willi syndrome (PWS) is a rare genetic disorder characterised by neurodevelopmental delays, hyperphagia, difficulties with social communication and challenging behaviours. Individuals require intensive supervision from caregivers which may negatively affect caregiver quality of life. This study used data collected in the Australasian PWS Registry to evaluate associations between child behaviours and caregiver mental well-being.

Sleep-disordered breathing in Australian children with Prader-Willi syndrome following initiation of growth hormone therapy

In children with Prader-Willi syndrome (PWS), growth hormone (GH) improves height and body composition; however, may be associated with worsening sleep-disordered breathing (SDB). Some studies have reported less SDB after GH initiation, but follow-up with polysomnography is still advised in most clinical guidelines.

Content Validation of Clinician-Reported Items for a Severity Measure for CDKL5 Deficiency Disorder

CDKL5 deficiency disorder (CDD) results in early-onset seizures and severe developmental impairments. A CDD clinical severity assessment (CCSA) was previously developed with clinician and parent-report items to capture information on a range of domains.

PCV10 elicits Protein D IgG responses in Papua New Guinean children but has no impact on NTHi carriage in the first two years of life

Nasopharyngeal colonisation with nontypeable Haemophilus influenzae (NTHi) is associated with development of infections including pneumonia and otitis media. The 10-valent pneumococcal conjugate vaccine (PCV10) uses NTHi Protein D (PD) as a carrier. Papua New Guinean children have exceptionally early and dense NTHi carriage, and high rates of NTHi-associated disease.

Determinants of sleep problems in children with intellectual disability

Children with intellectual disabilities are more likely to experience sleep disorders of insomnia, excessive daytime sleepiness and sleep breathing disorders than typically developing children. The present study examined risk factors for these sleep disorders in 447 children (aged 5-18 years), diagnosed with an intellectual disability and comorbid autism spectrum disorder, cerebral palsy, Down syndrome or Rett syndrome. Primary caregivers reported on their child's sleep using the Sleep Disturbance Scale for Children (SDSC), as well as medical comorbidities and functional abilities.

The effect of functioning on Quality of Life Inventory-Disability measured quality of life is not mediated or moderated by parental psychological distress

The measurement of quality of life (QOL) in children with intellectual disability often relies upon proxy report via caregivers. The current study investigated whether caregiver psychological distress mediates or moderates the effects of impairment on their ratings of QOL in children with intellectual disability.

Comorbidities and quality of life in children with intellectual disability

Many children with intellectual disability live with medical comorbidities. This study examined the impacts of comorbidities on quality of life (QOL) of children with intellectual disabilities and whether impacts varied with caregiver perceptions that medical needs had been met.

Functioning, participation, and quality of life in children with intellectual disability: an observational study

To investigate associations between functioning, community participation, and quality of life (QoL) and identify whether participation mediates the effects of functioning on QoL.

Systematic Review and Meta-analysis: Mental Health in Children

The behavioral phenotype of neurogenetic disorders associated with intellectual disability often includes psychiatric comorbidity. The objectives of this systematic review and meta-analysis were to systematically review the prevalence of psychiatric disorders and symptoms in children and adolescents

Survival of children and adolescents with intellectual disability following gastrostomy insertion

Whilst gastrostomy insertion was associated with lower survival rates than children without gastrostomy, survival improved with time

Immunogenicity of the inactivated influenza vaccine in children who have undergone allogeneic haematopoietic stem cell transplant

This study provides evidence to support annual inactivated influenza vaccine administration to children following allogeneic haematopoietic stem cell transplant

Timeliness of signal detection for adverse events following influenza vaccination in young children: a simulation case study

Active vaccine safety surveillance leading to rapid detection of a safety signal would likely have resulted in earlier suspension of Fluvax from the vaccination programme

Risk of Hospitalizations Following Gastrostomy in Children with Intellectual Disability

Gastrostomy was associated with health benefits including reduced all-cause and epilepsy hospitalizations, but was not protective against acute LRTI

Bacterial Reservoirs in the Middle Ear of Otitis-prone Children Are Associated With Repeat Ventilation Tube Insertion

Presence of bacterial otopathogen in the middle ear during ventilation tube insertion was a predictor of children at-risk of repeat ventilation tube insertion

High concentrations of middle ear antimicrobial peptides and proteins are associated with detection of middle ear pathogens in children with recurrent acute otitis media

Elevated antimicrobial proteins and peptides and cytokines in middle ear effusion are a marker of inflammation and bacterial persistence

Content validation of the Quality of Life Inventory—Disability

Satisfactory content validity is reported, where ongoing consumer feedback shaped the dataset from which the final items were selected

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

Psychometric properties of the Quality of Life Inventory-Disability (QI-Disability) measure

Initial evaluation suggests that QI-Disability is a reliable and valid measure of quality of life across the spectrum of intellectual disability

Powered standing wheelchairs promote independence, health and community involvement in adolescents with Duchenne muscular dystrophy

This study used qualitative methods to explore how adolescents with Duchenne muscular dystrophy used a powered wheelchair standing device in their daily lives

Epidemiology of gastrostomy insertion for children and adolescents with intellectual disability

Gastrostomy is increasingly used in multiple neurological conditions associated with intellectual disability, with no apparent accessibility barriers

Immunogenicity and Immune Memory after a Pneumococcal Polysaccharide Vaccine Booster in a High-Risk Population Primed with Pneumococcal Conjugate Vaccine

PPV is immunogenic in 9-month-old children at high risk of pneumococcal infections and does not affect the capacity to produce protective immune responses

Haptic Exploratory Procedures of Children and Youth with and without Cerebral Palsy

Children with cerebral palsy performed similar haptic exploratory procedures as their typical development peers

The impact of influenza infection on young children, their family and the health care system

Influenza infection in young children has a significant impact on medication use, absenteeism and the use of health care service

Evolving Trends of Gastrostomy Insertion Within a Pediatric Population

New gastrostomy insertion among children who require long-term enteral feeding support increased over the study period

Active surveillance of 2017 seasonal influenza vaccine safety: An observational cohort study of individuals aged 6 months and older in Australia

AusVaxSafety surveillance demonstrated comparable and expected safety outcomes for the 2017 quadrivalent inactivated influenza vaccine brands used in Australia

Impact of Gastrostomy Placement on Nutritional Status, Physical Health, and Parental Well-Being of Females with Rett Syndrome

Gastrostomy placement was associated with improvement in BMI in females with Rett syndrome, but its long-term impact on individuals and their families is unclear

Sustained participation in annual continuous quality improvement activities improves quality of care for Aboriginal and Torres Strait Islander children

To determine whether participation in the CQI Audit and Best Practice for Chronic Disease programme improved care and outcomes for Indigenous children.

The prevalence of mental health disorders and symptoms in children and adolescents with cerebral palsy: a systematic review and meta-analysis

Mental health conditions and problems are often reported in children and adolescents with CP. A systematic review was undertaken to describe their prevalence.

Sustained participation in annual continuous quality improvement activities improves quality of care for Aboriginal and Torres Strait Islander children

To determine whether participation in the continuous quality improvement (CQI) Audit and Best Practice for Chronic Disease programme improved care and outcomes for Indigenous children

Qualitative Analysis of Parental Observations on Quality of Life in Australian Children with Down Syndrome

We investigated parental observations to identify QOL domains in children with Down Syndrome and determined whether domains differed between children and teens.

Characterizing the risk of respiratory syncytial virus in infants with older siblings: a population-based birth cohort study

Our results lend support to a vaccination strategy which includes family members in order to provide maximum protection for newborn babies.

Limited impact of neonatal or early infant schedules of 7-valent pneumococcal conjugate vaccination

Early 7vPCV schedules have limited impact on pneumococcal vaccine type carriage in PNG

Aboriginal and non-Aboriginal children in Western Australia carry different serotypes of pneumococci with different antimicrobial susceptibility profiles

Differences in pneumococcal serotypes, genotypes, and antimicrobial susceptibility between Aboriginal and non-Aboriginal children living in the same area

A longitudinal study of natural antibody development to pneumococcal surface protein A families 1 and 2 in Papua New Guinean Highland children: a cohort study

Pneumococcal surface protein A is immunogenic and natural anti-PspA immune responses are acquired through exposure and develop with age

Predictors of vitamin D-containing supplement use in the Australian population and associations between dose and serum 25-hydroxyvitamin D concentrations

The prevalence of vitamin D-containing supplement use was generally low in the Australian population, particularly for single vitamin D supplements

A prospective investigation of dietary patterns and internalizing and externalizing mental health problems in adolescents

Our findings only lend partial support to a link between diet and mental health, specific to females consuming a Western diet and to externalizing behaviours

Influenza vaccine effectiveness and uptake in children at risk of severe disease

Participation in the preschool influenza vaccination program remains low with parents unconvinced of the benefits and safety of influenza vaccine

Improving access to primary care for Aboriginal babies in Western Australia: Study protocol for a randomized controlled trial

A population-based, stepped wedge, cluster randomized controlled trial of an enhanced model of early infant primary care

A Prospective Ultrasound Study of Prenatal Growth in Infant Siblings of Children With Autism

Identified no significant differences between the high- and low-risk fetuses in the rate of prenatal head and body growth throughout the 2nd and 3rd-trimester

Immunogenicity and clinical effectiveness of the trivalent inactivated influenza vaccine in immunocompromised children undergoing treatment for cancer

The trivalent inactivated influenza vaccine is safe, immunogenic, provides clinical protection and should be administered annually to immunosuppressed children receiving treatment for cancer

Validating the rett syndrome gross motor scale

The Rett Syndrome Gross Motor Scale could be an appropriate measure of gross motor skills in clinical practice and clinical trials

Older maternal age is associated with depression, anxiety, and stress symptoms in young adult female offspring

Older maternal age is associated with depression, anxiety, and stress symptoms in young adult females

Family satisfaction following spinal fusion in Rett syndrome

We evaluated family satisfaction following spinal fusion in girls with Rett syndrome

Predictors of Outcome in Pediatric Osteomyelitis: Five Years Experience in a Single Tertiary Center

A risk prediction model allows early identification of children at greatest risk of developing complicated osteomyelitis

The effectiveness of influenza vaccination in preventing hospitalisation in children in Western Australia

This study aimed to determine the vaccine effectiveness of the southern hemisphere trivalent inactivated influenza vaccine (TIV) in preventing...

Changes in caesarean delivery rates in Western Australia from 1995 to 2010 by gestational age at birth

The objective of this paper was to measure changes in caesarean delivery rates for primiparous women in Western Australia during 1995–2010 stratified by...

Rett syndrome: Establishing a novel outcome measure for walking activity in an era of clinical trials for rare disorders

Rett syndrome is a pervasive neurological disorder with impaired gait as one criterion.

Low dietary intake of magnesium is associated with increased externalising behaviours in adolescents

Adequate Zn and Mg intakes may be beneficial for the prevention and treatment of mental health problems, such as depression, anxiety and attention-deficit...

A validation study of a modified Bouchard activity record that extends the concept of 'uptime' to Rett syndrome

The aim of this study was to investigate the validity of using a Bouchard activity record (BAR) in individuals with Rett syndrome to measure physical...

Patterns of depressive symptoms and social relating behaviors differ over time from other behavioral domains for young people with Down syndrome

People with intellectual disabilities are at a higher risk for experiencing behavioral, emotional, and psychiatric problems in comparison with the general...

Onset of maternal psychiatric disorders after the birth of a child with autism spectrum disorder: A retrospective cohort study

Mothers of a child with autism spectrum disorder have more psychiatric disorders after the birth of their child.

Onset of maternal psychiatric disorders after the birth of a child with intellectual disability: A retrospective cohort study

Mothers of a child with intellectual disability (ID) have more psychiatric disorders after the birth of their child than other mothers.

Does late childbearing increase the risk for behavioural problems in children? A longitudinal cohort study

This study aimed to examine the relationship between advanced parental age and behavioural outcomes in offspring in a longitudinal cohort of children in...

Description of total population hospital admissions for cleft lip and/or palate in Australia

Orofacial clefts are a group of frequently observed congenital malformations often requiring multiple hospital admissions over the lifespan of affected...

Longitudinal bone mineral content and density in Rett syndrome and their contributing factors

Bone mass and density are low in females with Rett syndrome.

Early mortality and primary causes of death in mothers of children with intellectual disability or Autism spectrum disorder

Mothers of children with intellectual disability or autism spectrum disorder (ASD) have poorer health than other mothers.

Rett syndrome: establishing a novel outcome measure for walking activity in an era of clinical trials for rare disorders

This study investigated the capacity of three accelerometer-type devices to measure walking activity in Rett syndrome

Intussusception is associated with the detection of adenovirus C, enterovirus B and rotavirus in a rotavirus vaccinated population

Intussusception is associated with non-enteric adenovirus infections, and Enterovirus B infections

Experience of gastrostomy using a quality care framework: The example of rett syndrome

Gastrostomy assisted the management of feeding difficulties and poor weight gain, and was acceptable to families

Developing a Model to Account for Attrition Bias in a Longitudinal Cohort

Our objective was to develop a method that could be applied in a longitudinal cohort study to account for attrition bias in an investigation of exclusive...

Ultraviolet radiation suppresses obesity and symptoms of metabolic syndrome independently of vitamin D

UVR or sunlight exposure may be an effective means of suppressing the development of obesity and MetS, through mechanisms that are independent of vitamin D

Early infant feeding and adiposity risk: from infancy to adulthood

In our study, we aimed to examine early infant feeding and adiposity risk in a longitudinal cohort from birth to young adulthood using new as well as...

Day occupation is associated with psychopathology for adolescents and young adults with Down syndrome

In comparison to those young adults attending open employment from 2009 to 2011, those attending day recreation programs were reported to experience...

Influence of the environment on participation in social roles for young adults with down syndrome

The purpose of this study is to describe the social participation of young adults with Down syndrome and examine its relationship with the physical and...

The trajectories of sleep disturbances in Rett syndrome

This paper demonstrated that the evolution of sleep problems differed between subgroups of girls and women with Rett syndrome, in part explained by age and...

Child Attention Deficit Hyperactive Disorder Co morbidities on Family Stress: Effect of Medication

We examined the degree of parental and child mental health in a community sample of children diagnosed with Attention Deficit Hyperactive Disorder and the...

Vitamin D status and predictors of serum 25-hydroxyvitamin D concentrations in Western Australian adolescents

Using prospective data from the Western Australian Pregnancy Cohort (Raine) Study, we investigated vitamin D status and predictors of serum 25-hydroxyvitamin...

Re-evaluation of link between interpregnancy interval and adverse birth outcomes: Retrospective cohort study matching two intervals per mother

This study questions the causal effect of short interpregnancy intervals on adverse birth outcomes and points to the possibility of unmeasured or...

Modelling the seasonal epidemics of respiratory syncytial virus in young children

This paper describes a mathematical model used to predict when an epidemic of respiratory syncytial virus (RSV) will occur so that preventive measures, such...

Twenty years of surveillance in Rett syndrome: what does this tell us?

This study aimed to describe overall survival and adult health in those with Rett syndrome.

Spatial and temporal variation in type 1 diabetes incidence in Western Australia from 1991 to 2010: Increased risk at higher latitudes and over time

This study analysed spatial and historical variation in childhood incidence of type 1 diabetes mellitus (T1DM) among Western Australia's 36 Health Districts...

Low serum 25-hydroxyvitamin D concentrations associate with non-alcoholic fatty liver disease in adolescents independent of adiposity

This paper examined the link between low serum Vitamin D levels and development of non-alcoholic fatty liver disease (NAFLD) in adolescents between 14 and 17...

The impact of pandemic A(H1N1)pdm09 influenza and vaccine-associated adverse events on parental attitudes and influenza vaccine uptake in young children

This paper reports on the shift in parental attitude to vaccination after 2010, due to an unprecedented increase in febrile reactions in children receiving...

Effect of sitting posture on development of scoliosis in duchenne muscular dystrophy cases

This study assessed the contribution of physical factors including lumbar posture to scoliosis in non-ambulatory youth with DMD in Nepal.

Effectiveness of clindamycin and intravenous immunoglobulin, and risk of disease in contacts, in invasive group a streptococcal infections

This paper reports on treatment, and preventing infection in close contact, of invasive group A streptococcal (iGAS) using the antibiotic clindamycin and...

Effectiveness of trivalent flu vaccine in healthy young children

This paper reports some of the findings from the Western Australian Influenza Vaccine Effectiveness Study, commenced in 2008, to evaluate a program providing...

Family satisfaction following spinal fusion in Rett syndrome

Families participating in the population-based and longitudinal Australian Rett Syndrome Database whose daughter had undergone spinal fusion provided data on...

Morbidity due to acute lower respiratory infection in children with birth defects: A total population-based linked data study

Children with birth defects experience higher rates of hospitalisation for ALRIs before age 2 years than children with no birth defects.

Low maternal serum vitamin D during pregnancy and the risk for postpartum depression symptoms

Pregnancy is a time of vulnerability for vitamin D insufficiency, and there is an emerging literature associating low levels of 25(OH)-vitamin D with...

Does late childbearing increase the risk for behavioural problems in children? a longitudinal cohort study

This study aimed to examine the relationship between advanced parental age and behavioural outcomes in offspring in a longitudinal cohort of children in WA.

Relationship between family quality of life and day occupations of young people with Down syndrome

This study aimed to explore relationships between family quality of life, day occupations and activities of daily living of young persons with Down syndrome.

Low vitamin D levels are associated with symptoms of depression in young adult males

Results from studies examining associations between serum 25-hydroxyvitamin D (25(OH)D) concentrations and depressive symptoms are equivocal.

Morbidity in survivors of child and adolescent meningioma

Given the paucity of data concerning long-term outcome, the authors undertook a meta-analysis to analyze morbidity in survivors of this disease.

Energy drink consumption among young Australian adults: Associations with alcohol and illicit drug use

Australian energy drink users tend to have heavier alcohol consumption patterns be a cigarette smoker and use illicit drugs relative to non-users.

Energy drink consumption is associated with anxiety in australian young adult males

Energy drinks are predominantly targeted to young adult consumers; however, there has been limited research into their effects on psychological functioning...

Maternal Alcohol Use and Sudden Infant Death Syndrome and Infant Mortality Excluding SIDS

The highest risk of SIDS occurred when a maternal alcohol diagnosis was recorded during pregnancy or within 1 year postpregnancy.

Changes in risk factors for preterm birth in Western Australia 1984-2006

Marked increases in maternal age and primiparous births were observed. A four-fold increase in the rates of pre-existing medical complications over time...

The western dietary pattern is prospectively associated with nonalcoholic fatty liver disease in adolescence

In centrally obese adolescents with NAFLD, a healthy dietary pattern may be protective, whereas a Western dietary pattern may increase the risk.

Hypertensive diseases of pregnancy predict parent-reported difficult temperament in infancy

These data suggest that the link between maternal hypertensive diseases of pregnancy and child behavioral development begins in the first year of life.

Delivery at 37 weeks' gestation is associated with a higher risk for child behavioural problems

We suggest that 37 weeks' gestation may not be the optimal cutoff for defining perinatal risk as it applies to behavioural development.

Maternal life stress events in pregnancy link to children's school achievement at age 10 years

Maternal antenatal exposure to life stress events has differing effects on the school performance of male and female offspring.

Low-dose oral interferon alpha as prophylaxis against viral respiratory illness: A double-blind, parallel controlled trial

A double-blind, placebo-controlled clinical trial was conducted investigating the use of low-dose oral interferon alpha for preventing acute viral...

Mothers' and Fathers' Work Hours, Child Gender, and Behavior in Middle Childhood

This study examined the association between typical parental work hours (including nonemployed parents) and children's behavior in two-parent heterosexual...

Functioning and post-school transition outcomes for young people with Down syndrome

Our analysis shows that functioning in activities of daily living was related to post-school day occupation. Current health status and behaviour were found...

Pre-pregnancy maternal overweight and obesity increase the risk for affective disorders in offspring

Maternal pre-pregnancy obesity has been linked with an increased risk for negative emotionality and inattentiveness in offspring in early childhood.

Umbilical Cord Blood Testosterone and Childhood Internalizing and Externalizing Behavior: A Prospective Study

Antenatal testosterone exposure influences fetal neurodevelopment and gender-role behavior in postnatal life and may contribute to differences in...

Maternal Conditions and Perinatal Characteristics Associated with Autism Spectrum Disorder and Intellectual Disability

Findings show that indicators of a poor intrauterine environment are associated with an elevated risk of ID, while for ASD, and particularly ASD without ID,...

Safety and Immunogenicity of Neonatal Pneumococcal Conjugate Vaccination in Papua New Guinean Children: A Randomised Controlled Trial

We conducted an open randomized controlled trial in Papua New Guinea to compare safety, immunogenicity and priming for memory of 7-valent PCV (PCV7) given in...

Association between early bacterial carriage and otitis media in Aboriginal and non-Aboriginal children

Streptococcus pneumoniae (Pnc), nontypeable Haemophilus influenzae (NTHi) and Moraxella catarrhalis (Mcat) are the most important bacterial pathogens...

Can linked emergency department data help assess the out-of-hospital burden of acute lower respiratory infections

There is a lack of data on the out-of-hospital burden of acute lower respiratory infections (ALRI) in developed countries.

Androgen concentrations in umbilical cord blood and their association with maternal, fetal and obstetric factors

The aim of this study was to measure umbilical blood androgen concentrations in a birth cohort using a highly specific liquid chromatography-tandem mass...

Prevalence of and risk factors for human rhinovirus infection in healthy aboriginal and non-aboriginal western australian children

Human rhinovirus (HRV) species C (HRV-C) have been associated with frequent and severe acute lower respiratory infections and asthma in hospitalized children.

Sex-specific associations between umbilical cord blood testosterone levels and language delay in early childhood

Preliminary evidence suggests that prenatal testosterone exposure may be associated with language delay.

Reduction in disparity for pneumonia hospitalisations between Australian indigenous and non-Indigenous children

In the 1990s pneumonia hospitalisation rates in Western Australia (WA) were 13 times higher in Indigenous children than in non-Indigenous children...

Heavy prenatal alcohol exposure and increased risk of stillbirth

The objective was to investigate the association between heavy prenatal alcohol exposure and stillbirth.

The impact of monetary incentives on general fertility rates in Western Australia

We examined general fertility rates from 1995 and 2006 by socioeconomic group, maternal age, Aboriginality and location in WA before and after the Baby Bonus.

Maternal life stress events in pregnancy link to children's school achievement at age 10 years

To test the hypothesis that maternal antenatal exposure to life stress events is associated with lower achievement in literacy and numeracy at age 10 years,...

Effect of early carriage of streptococcus pneumoniae on the development of pneumococcal protein-specific cellular immune responses in infancy

The aim of this study was to examine the relationship between nasopharyngeal pneumococcal colonization in early life and the development of T cell responses.

Sex-specific associations between umbilical cord blood testosterone levels and language delay in early childhood

Preliminary evidence suggests that prenatal testosterone exposure may be associated with language delay. However, no study has examined a large sample of...

Western Australian emergency department presentations related to child maltreatment and intentional injury

To determine the proportion of child maltreatment-related emergency department presentations in WA and describe the types of injuries associated with them.

ART, birth defects and subfertility-what should prospective patients be told?

Clinicians who counsel prospective ART patients about birth defect risk should provide information about the overall risk of having a child with a birth defect

Use of equipment and respite services and caregiver health among Australian families living with Rett syndrome

This study assessed factors that could influence equipment and respite services use among Australian families caring for a girl/woman with Rett syndrome and...

Pandemic influenza H1N1 2009 infection in Victoria, Australia

Conflicting findings regarding the level of protection offered by seasonal influenza vaccination against pandemic influenza H1N1 have been reported.

Reactogenicity of two 2010 trivalent inactivated influenza vaccine formulations in adults

The objective of this tudy was to assess the reactogenicity of two 2010 trivalent inactivated influenza vaccine (TIV) formulations among adults, including...

Predominance of nontypeable haemophilus influenzae in children with otitis media

In Australia the 7-valent pneumococcal conjugate vaccine (PCV7) is administered at 2, 4 and 6 months of age, with no booster dose.

Crowding and other strong predictors of upper respiratory tract carriage of otitis media-related

We investigated predictors of nasopharyngeal carriage in Australian Aboriginal and non-Aboriginal children.

Crowding and other strong predictors of upper respiratory tract carriage of otitis media-related bacteria

Streptococcus pneumoniae, Moraxella catarrhalis, and nontypeable Haemophilus influenzae is associated with otitis media

Western Australian children with acute lymphoblastic leukemia are taller at diagnosis than unaffected children of the same age and sex

Acute lymphoblastic leukemia (ALL) is the commonest childhood malignancy in Australian children

Bone mineral content and density in Rett syndrome and their contributing factors

This study used densitometry to investigate the areal bone mineral density (aBMD) and bone mineral content (BMC) in an Australian Rett syndrome cohort...

Autism and intellectual disability are differentially related to sociodemographic background at birth

We used population data on Western Australian singletons born from 1984 to 1999 (n = 398,353) to examine the sociodemographic characteristics of children...

Vaccine Effectiveness Against Laboratory-confirmed Influenza in Healthy Young Children A Case-Control Study

The Western Australian Influenza Vaccine Effectiveness study commenced in 2008 to evaluate a new program to provide free influenza vaccine to all children...

Influenza vaccine effectiveness against laboratory-confirmed influenza in healthy children aged 6-59 months:

The Western Australian Influenza Vaccine Effectiveness study commenced in 2008 to evaluate a new program to provide free influenza vaccine to all children...

Variation over time in medical conditions and health service utilization of children with Down syndrome

Variation over time in medical conditions and health service utilization of children with Down syndrome.

Lifestyle and demographic correlates of poor mental health in early adolescence

To determine the constellation of lifestyle and demographic factors that are associated with poor mental health in an adolescent population.

Prenatal stress and risk of behavioral morbidity from age 2 to 14 years:

The maternal experience of stressful events during pregnancy has been associated with a number of adverse consequences for behavioral development offspring...

Assessing the protective effect of influenza vaccine against laboratory confirmed influenza in hospitalised children aged 6-59 months

Influenza vaccine was offered to all children aged 6-59 months resident in Western Australia in 2008, and we wished to evaluate the effectiveness of this immunisation programme.

Lessons from the first year of the WAIVE study investigating the protective effect of influenza vaccine

Influenza is major cause of paediatric hospitalisation. Influenza vaccine was offered to all children aged 6-59 months resident in Western Australia in 2008

Valproate and risk of fracture in Rett syndrome

This study investigated the relationships between fracture risk and commonly used AEDs in Rett syndrome.

The interaction between respiratory viruses and pathogenic bacteria

Data on asymptomatic identification rates of respiratory viruses are limited, particularly in Indigenous populations, who suffer a high burden of OM.

Linking MECP2 and pain sensitivity: the example of Rett syndrome

This study investigated the nature and prevalence of atypical pain responses in Rett syndrome and their relationships with specific MECP2 mutations.

The long-term effects of breastfeeding on child and adolescent mental health: A Pregnancy Cohort Study followed for 14 years

To determine whether there was an independent effect of breastfeeding on child and adolescent mental health

Updating the profile of C-terminal MECP2 deletions in Rett syndrome

This study aimed to compare the phenotype of Rett syndrome cases with C-terminal deletions to that of cases with different MECP2 mutations

Association between socioeconomic status and the development of asthma: analyses of income trajectories

Using data on 2868 children born in the Western Australian Pregnancy Cohort (Raine) Study, we examined the association between changes in family...

Stereotypical hand movements in 144 subjects with Rett syndrome from the population-based Australian database

Stereotypic hand movements are a feature of Rett Syndrome but few studies have observed their nature systematically.

Child behaviour following low to moderate maternal drinking in pregnancy

Child behaviour following low to moderate maternal drinking in pregnancy

Physical and mental health in mothers of children with Down syndrome.

Physical and mental health in mothers of children with Down syndrome.

Gross Motor Profile in Rett Syndrome as Determined by Video Analysis

This study used video supplemented by parent report data to describe the gross motor profile in females with Rett syndrome (n=99) and to investigate...

Early determinants of fractures in Rett syndrome

The goals were to compare the fracture incidence in Rett syndrome with that in the general population and to investigate the impact of genotype, epilepsy,...

Sleep problems in Rett syndrome

Sleep problems are thought to occur commonly in Rett syndrome, but there has been little research on prevalence or natural history.

Diverging trends for lower respiratory infections in non-Aboriginal and Aboriginal children

To investigate temporal trends in admission rates for acute lower respiratory infections (ALRI) in a total population birth cohort of non-Aboriginal and...

Predictors of scoliosis in Rett syndrome

Scoliosis is a common clinical manifestation of Rett syndrome, a neurodevelopmental disorder that almost exclusively affects girls.

The association between behaviour and genotype in Rett Syndrome using the Australian Rett Syndrome Database

This study compared the behavior profile of cases in the Australian Rett Syndrome Database (ARSD) with those in a British study using the Rett Syndrome...

Education and Qualifications
  • Bachelor of Arts (Hons) – University of Keele
  • Master of Science – University of Liverpool
Active Collaborations
  • NIH-funded project: Development and validation of outcome measures for children with CDKL5 deficiency disorder with the University of Colorado and Children’s Hospital, Philadelphia