Hospitalisation rates for children with intellectual disability or autism born in Western Australia 1983-1999: a population-based cohort study.

Objectives: 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.

Design: Prospective cohort study using data linkage between health, ID and hospitalisation population-based datasets.

Setting: Western Australia.

Pubertal trajectory in females with Rett syndrome: a population-based study.

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 Australian population-based Rett Syndrome Database.

The phenotype associated with a large deletion on MECP2.

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. Individuals were ascertained from the Australian Rett Syndrome and InterRett databases with data sourced from family and clinician questionnaires, and two case studies were constructed from the longitudinal Australian data.

Direct health care costs of children and adolescents with Down syndrome.

Objective: 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.

Study Design: Population-based data were derived from a cross-sectional questionnaire that was distributed to all families who had a child with Down syndrome as old as 25 years of age in Western Australia.

Results: Seventy-three percent of families (363/500) responded to the survey.

Change in gross motor abilities of girls and women with rett syndrome over a 3- to 4-year period.

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 motor skills scores measured on the Gross Motor Scale for Rett syndrome.

Trends in the diagnosis of Rett syndrome in Australia.

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 availability of genetic testing on these frequencies was investigated. The population-based Australian Rett Syndrome Database was used to identify a total of 349 verified Rett syndrome females born 1976-2006 and diagnosed 1982-2008.

Altered attainment of developmental milestones influences the age of diagnosis of rett syndrome.

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 Database were used to source a total of 293 confirmed female subjects.

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

Background: Research findings investigating the sociodemographics of autism spectrum disorder (ASD) have been inconsistent and rarely considered the presence of intellectual disability (ID).

Methods: 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 ASD with or without ID, or ID without ASD compared with non-affected children.

Results: The profiles for the four categories examined, mild-moderate ID, severe ID, ASD without ID and ASD with ID varied considerably and we often identified a gradient effect where the risk factors for mild-moderate ID and ASD without ID were at opposite extremes while those for ASD with ID were intermediary.

Leisure participation for school-aged children with Down syndrome.

Purpose:  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.

Method:  Families in Western Australia with a child aged 5-18 years with Down syndrome were surveyed in a population-based study (n = 208) in 2004.

Results:  One-third of parents reported that their child with Down syndrome had no friends although half reported two or more friends.

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 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 investigated. Participants, recruited from the Australian Rett Syndrome Database (ARSD), had TBBMC and lumbar spine (LS) and femoral neck (FN) aBMD measured using Dual energy x-ray absorptiometry.

The relationship between MECP2 mutation type and health status and service use trajectories over time in a Rett syndrome population.

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 (general practitioner and specialist visits and hospital stays) were summarized into composite scores with Principal Component Analysis.

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

Objectives: 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.

Study Design: 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 = 208). Surveys collected information on family demographics, medical conditions, health issues, and service utilization.

Longitudinal hand function in 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.

Atypical presentations and specific genotypes are associated with a delay in diagnosis in females with Rett syndrome.

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 were sourced from the Australian Rett Syndrome and InterRett Databases.

Survival with Rett syndrome: comparing Rett's original sample with data from the Australian Rett Syndrome Database.

Aim: rett syndrome is a severe neurodevelopmental disorder that typically affects females. Little is known about the natural history and survival time of these females.

Method: 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.

Linking MECP2 and pain sensitivity: the example of Rett syndrome.

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.

Level of purposeful hand function as a marker of clinical severity in Rett syndrome.

Aim: We investigated relationships between hand function and genotype and aspects of phenotype in Rett syndrome.

Method: 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 CpG binding protein 2 (MECP2) gene. Ordinal logistic regression was used to assess relationships between hand function and MECP2 mutation, age, a modified Kerr score, Functional Independence Measure for Children (WeeFIM), ambulation level, and frequency of hand stereotypies.

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. 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.

Guidelines for management of scoliosis in Rett syndrome patients based on expert consensus and clinical evidence.

Study Design: Modified Delphi technique.

Objective: To develop guidelines for the clinical management of scoliosis in Rett syndrome through evidence review and consensus expert panel opinion.

Summary Of Background Data: Rett syndrome is a rare disorder and clinical expertise is thus with small case series.

InterRett, a model for international data collection in a rare genetic disorder.

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 studies.

Impact of scoliosis surgery on activities of daily living in females with Rett syndrome.

Background: Scoliosis is a common orthopaedic complication of Rett syndrome, and surgery is commonly used to reduce asymmetry in cases with severe scoliosis.

Methods: 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 scoliosis surgery were compared with within-subject change in 186 pairs of data from 86 subjects with conservatively managed scoliosis. Postsurgical assessment was conducted after a mean of 17.

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

Objective: To identify the relationship between characteristics of the child with Down syndrome and the health of their mother.

Study Design: 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).

Results: The mean physical health score of mothers was 50.

Early determinants of fractures in Rett syndrome.

Objectives: 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.

Methods: The Australian Rett syndrome study, a population-based study operating since 1993, investigated Australian subjects with Rett syndrome born since 1976. The 234 (81.

Delineation of large deletions of the MECP2 gene in Rett syndrome patients, including a familial case with a male proband.

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 fraction of otherwise mutation-negative patients. These cases would normally be missed by the routine PCR-based screening strategies.