Ami Bebbington

University of Western Australia | UWA · School of Paediatrics and Child Health

Data linkage is the bringing together of specific datasets from different sources using demographic information on individuals within a population. In Western Australia, systematic record linkages between multiple datasets including births, deaths, and hospital morbidity have occurred since 1997. Linkage to other population datasets related to inte...

To describe the hospitalisation patterns in children with intellectual disability (ID) and/or autism spectrum disorder (ASD) after the first year of life and compare with those unaffected. Prospective cohort study using data linkage between health, ID and hospitalisation population-based datasets. Western Australia. 416 611 individuals born between...

Background: Rett syndrome is a severe genetic neurodevelopmental disorder mainly affecting females. The aim of this study was to describe pubertal development in a population-based cohort of females with Rett syndrome. Methods: To assess pubertal trajectory we used six waves of data provided by parents of girls and women, recruited through the A...

Multiplex ligation-dependent Probe Amplification (MLPA) has become available for the detection of a large deletion on the MECP2 gene allowing genetic confirmation of previously unconfirmed cases of clinical Rett syndrome. This study describes the phenotype of those with a large deletion and compares with those with other pathogenic MECP2 mutations....

To assess the direct annual health care costs for children and adolescents with Down syndrome in Western Australia and to explore the variation in health care use including respite, according to age and disease profile. Population-based data were derived from a cross-sectional questionnaire that was distributed to all families who had a child with...

Rett syndrome is a rare but severe neurological disorder typically associated with a mutation in the MECP2 gene. We describe change in gross motor function over 3 to 4 years for 70 subjects participating in the Australian Rett Syndrome Database. Linear regression was used to assess relationships with age, genotype, and general and complex gross mot...

Modifications to diagnostic criteria and introduction of genetic testing have likely affected the pattern and timing of Rett syndrome diagnosis. The trends in incidence and prevalence of Rett syndrome in Australia were examined; the cumulative risk of a female being diagnosed was determined; and the impact of changes to diagnostic criteria and avai...

The early developmental history prior to the manifestation of Rett syndrome features is of clinical interest. This study describes the attainment of gross developmental milestones and regression, and assesses the relationships between genotype and age at diagnosis. The Australian Rett Syndrome Database and International Rett Syndrome Phenotype Data...

This study measured use and cost of health sector and related services in Rett syndrome and effects of socio-demographic, clinical severity and genetic factors on costs. The study population consisted of individuals with Rett syndrome registered with the Australian Rett Syndrome Database in 2004. Descriptive analysis was used to examine patterns of...

This study assessed factors that could influence equipment and respite services use among Australian families caring for a girl/woman with Rett syndrome and examined relationships between use of these resources and the health of female caregivers. Data was sourced from questionnaires completed by families (n = 170)contributing to the Australian Ret...

This study aimed to investigate the trajectories over time of health status and health service use in Rett syndrome by mutation type. Data were obtained from questionnaires administered over six years to 256 participants from the Australian Rett Syndrome Database. Health status (episodes of illness and medication load) and health service use (gener...

Intellectual Disability (ID) of unknown cause and Autism Spectrum Disorder (ASD) with and without ID by maternal agegroup, paternal agegroup and marital status at the time of the child's birth. (DOC)

Intellectual Disability (ID) of unknown cause and Autism Spectrum Disorder (ASD) with and without ID by maternal ethnicity and area of residence at the time of the child's birth. (DOC)

Multivariate analysis of the associations of sociodemographic factors and diagnosis of intellectual disability (ID) of unknown cause and autism spectrum disorder (ASD) with and without ID. (DOC)

Infant characteristics by diagnosis of Intellectual Disability (ID) of unknown cause and Autism Spectrum Disorder (ASD) with and without ID. (DOC)

Socioeconomic indices based on mother's residence at time of infant's birth for Intellectual Disability (ID) of unknown cause and Autism Spectrum Disorder (ASD) with and without ID. (DOC)

Research findings investigating the sociodemographics of autism spectrum disorder (ASD) have been inconsistent and rarely considered the presence of intellectual disability (ID). We used population data on Western Australian singletons born from 1984 to 1999 (n = 398,353) to examine the sociodemographic characteristics of children diagnosed with AS...

 To describe leisure participation for school-aged children with Down syndrome and to investigate how factors, classified by the World Health Organisation's International Classification of Functioning, Disability and Health, influence their leisure participation.  Families in Western Australia with a child aged 5-18 years with Down syndrome were su...

This study used densitometry to investigate the areal bone mineral density (aBMD) and bone mineral content (BMC) in an Australian Rett syndrome cohort and to assess how factors such as genotype, epilepsy, BMI, and mobility affect these parameters. The influence of lean tissue mass (LTM) and bone area (BA) on total body BMC (TBBMC) was also investig...

rett syndrome is a severe neurodevelopmental disorder that typically affects females. Little is known about the natural history and survival time of these females. we compared the survival of all Austrian female participants from Rett's historical cohort (1966) with that of affected females registered in the Australian Rett Syndrome Database. The a...

There is often delay between onset of Rett syndrome symptoms and its diagnosis, possibly related to symptom presentation or socio-demographic factors. We hypothesized that girls with an atypical presentation or whose family had a lower socio-economic status would receive a later diagnosis. Female subjects with a confirmed diagnosis of Rett syndrome...

Loss of hand function is a core feature of Rett syndrome. This article describes longitudinal hand function at 3 time points for 72 subjects participating in the Australian Rett Syndrome Database. Approximately 40% of subjects with some grasping abilities lost skill over the 3- to 4-year period between video assessments. In these subjects, a decrea...

To compare the prevalence of parent reported medical conditions and rates of health service utilization in school-aged children with Down syndrome in Western Australia in 1997 and 2004. We compared two cross-sectional surveys completed by parents of children with Down syndrome identified from population-based sources in 1997 (n = 210) and 2004 (n =...

Objectives: 1)Determine the pattern of dental services utilization by children with intellectual disability (Down or Rett syndrome). 2)Identify associated factors. Methods: Data from two major population-based surveys involving children with Down syndrome [Western Australia(n=363)] and Rett syndrome[entire Australia(n=207)], were used. The pa...

Some associations between antiepileptic drugs (AEDs) and fracture risk have been reported in the general population. This study investigated the relationships between fracture risk and commonly used AEDs in Rett syndrome, a genetic disorder associated with intellectual and physical disability. Cases (n=233) were sourced from the population-based Au...

Recent animal studies suggest links between MeCP2 function and sensitivity to pain. This study investigated the nature and prevalence of atypical pain responses in Rett syndrome and their relationships with specific MECP2 mutations. Families enrolled in the Australian Rett Syndrome Database (ARSD) and InterRett database participated in this study....

We investigated relationships between hand function and genotype and aspects of phenotype in Rett syndrome. Video assessment in naturalistic settings was supplemented by parent-reported data in a cross-sectional study of 144 females with a mean age of 14 years 10 months (SD 7 y 10 mo; range 2 y-31 y 10 mo), 110 of whom had a mutation of the methyl...

Stereotypic hand movements are a feature of Rett Syndrome but few studies have observed their nature systematically. Video data in familiar settings were obtained on subjects (n = 144) identified from an Australian population-based database. Hand stereotypies were demonstrated by most subjects (94.4%), 15 categories were observed and midline wringi...

This study aimed to compare the phenotype of Rett syndrome cases with C-terminal deletions to that of cases with different MECP2 mutations and to examine the phenotypic variation within C-terminal deletions. Cases were selected from InterRett, an international database and from the population-based Australian Rett Syndrome Database. Cases (n=832) w...

Modified Delphi technique. To develop guidelines for the clinical management of scoliosis in Rett syndrome through evidence review and consensus expert panel opinion. Rett syndrome is a rare disorder and clinical expertise is thus with small case series. Scoliosis is a frequent association and the evidence base dealing with scoliosis management in...

Rett syndrome (RTT) is a rare genetic disorder within the autistic spectrum. This study compared socio-demographic, clinical and genetic characteristics of the international database, InterRett, and the population-based Australian Rett syndrome database (ARSD). It also explored the strengths and limitations of InterRett in comparison with other stu...

Scoliosis is a common orthopaedic complication of Rett syndrome, and surgery is commonly used to reduce asymmetry in cases with severe scoliosis. Data from questionnaires administered to caregivers biennially from 2000 to 2006 were used to describe functional skill levels in subjects with Rett syndrome, and within-subject change in 16 subjects with...

Rett syndrome (RTT) is caused by mutations in the transcriptional repressor methyl CpG-binding protein 2 (MECP2). Brain-derived neurotrophic factor (BDNF) is a neurotrophic factor playing a major role in neuronal survival, neurogenesis, and plasticity, and it has been shown that BDNF expression is regulated by MeCP2 through a complex interaction. A...

Movement impairment is a fundamental but variable component of the Rett syndrome phenotype. 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 the impact of age, genotype, scoliosis and hand stereotypies. Factor analysis enabled the calculation of gene...

The overlap between autism and Rett syndrome clinical features has led to many cases of Rett syndrome being initially diagnosed with infantile autism or as having some autistic features. Both conditions seriously disrupt social and language development and are often accompanied by repetitive, nonpurposeful stereotypic hand movements. The aims of th...

To identify the relationship between characteristics of the child with Down syndrome and the health of their mother. Families with a child/young adult with Down syndrome (<25 years) provided information related to the health of the child, functioning and behavior, and the health and well-being of the mother (n = 250). The mean physical health score...

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, and early motor skills on subsequent fracture incidence in girls and young women with Rett syndrome. The Australian Rett syndrome study, a population-based study operating since 1993, investigate...

Rett syndrome is an uncommon neurodevelopmental disorder with an incidence of 1:9,000 live female births. The principal genetic cause was first reported in 1999 when the association with mutations in the methyl-CpG-binding protein 2 (or MECP2) gene was identified. This study uses data from a large international database, InterRett, to examine genot...

The overlap between autism and Rett syndrome clinical features has led to many cases of Rett syndrome being initially diagnosed with infantile autism or as having some autistic features. Both conditions seriously disrupt social and language development and are often accompanied by repetitive, nonpurposeful stereotypic hand movements. The aims of th...

Comprehensive genetic screening programs have led to the identification of pathogenic methyl-CpG-binding protein 2 (MECP2) mutations in up to 95% of classical Rett syndrome (RTT) patients. This high rate of mutation detection can partly be attributed to specialised techniques that have enabled the detection of large deletions in a substantial fract...