- Rett Syndrome: Revised diagnostic criteria and nomenclature
December 1, 2010
The purpose of this work was to revise and clarify 2002 consensus criteria for the diagnosis of RTT in anticipation of treatment trials.
Read more - Narrowing the broader autism phenotype: A study using the Communication Checklist - Adult (CC-A)
November 1, 2010
This study investigated whether the Communication Checklist - Adult (CC-A) could identify subtypes of social and communication dysfunction in autism probands and their parents.
Read more - Value of serology in predicting Pseudomonas aeruginosa infection in young children with cystic fibrosis
November 1, 2010
Early detection of Pseudomonas aeruginosa is essential for successful eradication. The accuracy of serum antibodies against specific and multiple P aeruginosa antigens at predicting lower airway infection in young children with cystic fibrosis (CF) was investigated.
Read more - Identifying peroxidases and their oxidants in the early pathology of cystic fibrosis
November 1, 2010
We aimed to determine whether myeloperoxidase (MPO) is the main peroxidase present in the airways of children with cystic fibrosis (CF) and to assess which oxidants it produces and whether they are associated with clinical features of CF.
Read more - Survival with Rett syndrome: comparing Rett's original sample with data from the Australian Rett syndrome Database
October 1, 2010
Rett syndrome is a severe neurodevelopmental disorder that typically affects females. Little is known about the natural history and survival time of these females.
Read more - Atypical presentations and specific genotypes are associated with a delay in diagnosis in females with Rett syndrome
October 1, 2010
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.
Read more - Epidemiology of the cerebral palsies
October 1, 2010
Half of the most severe cases of cerebral palsy (CP) survive to adulthood, but because this longevity is relatively recent, there is no empirical experience of their life expectancy past middle age. The last 2 decades have seen significant developments in the management of persons with CP, involving specialist services from an increasing number of disciplines that require coordination to maximize their effectiveness. This article provides an overview of CP. The author discusses definitions of CP, its epidemiology, pathologies, and range of possible clinical descriptions, and briefly touches on management and prevention.
Read more - Adverse events following botulinum toxin type A treatment in children with cerebral palsy
October 1, 2010
Adverse events following botulinum toxin type A treatment in children with cerebral palsy
Read more - Unpacking the complex nature of the autism epidemic
October 1, 2010
The etiology of autism spectrum disorders is unknown but there are claims of increasing prevalence in many countries. Despite more than a decade of epidemiological investigation, it is still unclear whether the rising trend in prevalence reflects a true increase or changes in diagnostic trends and improvements in case ascertainment
Read more - Caudal dysgenesis and sirenomelia-single centre experience suggests common pathogenic basis
October 1, 2010
Abnormally formed lower limbs with varying degrees of fusion are the major feature of sirenomelia whereas maldeveloped lower limbs without fusion are found in association with caudal dysgenesis (CD). The relationship between these two entities has been a topic of debate for many years.
Read more - Level of purposeful hand function as a marker of clinical severity in Rett syndrome
September 1, 2010
We investigated relationships between hand function and genotype and aspects of phenotype in Rett syndrome.
Read more - Fetal androgen exposure and pragmatic language ability of girls in middle childhood: Implications for the extreme male-brain theory of autism
September 1, 2010
This is the first prospective study to identify an association between early life testosterone exposure and pragmatic language difficulties in girls. These novel findings are discussed with reference to the 'extreme male-brain' theory of autism.
Read more - Stability of interleukin 8 and neutrophil elastase in bronchoalveolar lavage fluid following long-term storage
September 1, 2010
Interleukin-8 (IL-8) and neutrophil elastase (NE) are commonly measured markers of inflammation in bronchoalveolar lavage (BAL) fluid from patients with cystic fibrosis. Longitudinal analysis assumes uniform stability during storage, however the effect of extended low-temperature storage on these markers remains unclear.
Read more - Monocytes from children with clinically stable cystic fibrosis show enhanced expression of Toll-like receptor 4
September 1, 2010
Lung disease in patients with cystic fibrosis (CF) is characterized by recurrent bacterial respiratory infections and intense airway inflammation.
Read more - Fetal androgen exposure and pragmatic language ability of girls in middle childhood: implications for the extreme male-brain theory of autism
September 1, 2010
In this prospective study, pragmatic language skills, assessed using a pragmatic language score (PLS), were measured in 78 girls aged 10 years and correlated with testosterone levels in umbilical cord blood.
Read more - Evaluation of the processes of family-centred care for young children with intellectual disability in Western Australia
September 1, 2010
Government early intervention services for children with intellectual disability (ID) in Western Australia have adopted the model of family-centred care. The aim of this study was to evaluate how well it was being practised, to describe the pattern of service utilization and to identify factors influencing parental perceptions of family-centred care.
Read more - Is there a sex ratio difference in the familial aggregation of specific language impairment? A meta analysis
August 1, 2010
Specific language impairment (SLI) is known to aggregate in families. Debate exists on whether the male sex presents an additional risk for SLI. This meta-analysis examined whether there is a sex ratio difference in the risk for impairment among family members of an SLI proband and whether this is mediated by assessment method (direct assessment via psychometric tests vs. indirect assessment via questionnaire/interview) or relative type (sibling vs. parent).
Read more - How valid are the rates of Down syndrome internationally? Findings from the International Clearinghouse for Birth Defects Surveillance and Research
July 1, 2010
Rates of Down syndrome (DS) show considerable international variation, but a systematic assessment of this variation is lacking. The goal of this study was to develop and test a method to assess the validity of DS rates in surveillance programs, as an indicator of quality of ascertainment.
Read more - Valproate and risk of fracture in Rett syndrome
June 1, 2010
This study investigated the relationships between fracture risk and commonly used AEDs in Rett syndrome, a genetic disorder associated with intellectual and physical disability.
Read more - International trends of Down syndrome 1993-2004: Births in relation to maternal age and terminations of pregnancies
June 1, 2010
The aim of this study was to examine trends of Down syndrome (DS) in relation to maternal age and termination of pregnancies (ToP) in 20 registries of the International Clearinghouse for Birth Defects Surveillance and Research (ICBDSR).
Read more - Linking MECP2 and pain sensitivity: the example of Rett syndrome
May 1, 2010
This study investigated the nature and prevalence of atypical pain responses in Rett syndrome and their relationships with specific MECP2 mutations.
Read more - Updating the profile of C-terminal MECP2 deletions in Rett syndrome
April 1, 2010
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.
Read more - Cell phone use by adolescents with Asperger Syndrome
April 1, 2010
While young people have generally been at the forefront of the adoption and use of new communications technologies, little is known of uses by exceptional youth. This study compares cell phone use by a group of adolescents with Asperger Syndrome (n = 35) with that by a group of adolescents with typical development (n = 35).
Read more - Age at diagnosis of birth defects
April 1, 2010
Many birth defects surveillance programs ascertain cases of birth defects diagnosed beyond 1 year of age. The Western Australian (WA) Birth Defects Registry includes cases diagnosed up to 6 years of age, but the value of extending ascertainment beyond 1 year has not been assessed.
Read more - Epilepsy and mental retardation limited to females with PCDH19 mutations can present de novo or in single generation families
March 1, 2010
Epilepsy and mental retardation limited to females (EFMR) is an intriguing X-linked disorder affecting heterozygous females and sparing hemizygous males. Mutations in the protocadherin 19 (PCDH19) gene have been identified in seven unrelated families with EFMR.
Read more - Free testosterone levels in umbilical cord blood predict infant head circumference in girls
March 1, 2010
Fetal androgens influence fetal growth as well as postnatal neurocognitive ability. However, to our knowledge, no published study has prospectively examined the impact of early-life androgens on infant brain growth. We report the association between circulating fetal androgen levels, measured from umbilical-cord blood at birth, and a proxy measure of brain growth: head circumference.
Read more - Congenital anomalies--why bother?
March 1, 2010
Congenital anomalies--why bother?
Read more - Impact of Neuritin 1 (NRN1) polymorphisms on fluid intelligence in schizophrenia
March 1, 2010
Neuritin 1 (NRN1), an activity-regulated gene with multiple roles in neurodevelopment and synaptic plasticity, is located within the 6p24-p25 interval on chromosome 6, previously identified as linked to a subtype of schizophrenia (SZ) characterized by pervasive cognitive deficit (CD).
Read more - Unpacking the complex nature of the autism epidemic
February 2, 2010
This paper discusses changes in diagnostic criteria, decreasing age at diagnosis, improved case ascertainment, diagnostic substitution, and social and cultural influences on the overall effects on prevalence, including the role of an ASD diagnosis as a gateway to funding.
Read more - Stereotypical hand movements in 144 subjects with Rett syndrome from the population-based Australian database
February 1, 2010
Stereotypic hand movements are a feature of Rett Syndrome but few studies have observed their nature systematically.
Read more - Hip displacement and scoliosis in Rett syndrome - screening is required
January 1, 2010
This study aimed to determine the prevalence of hip displacement and spinal deformity in a clinic population of females with Rett syndrome to define implications for screening and management.
Read more - Overview of Health Issues in School-aged Children with Down Syndrome
January 1, 2010
Overview of Health Issues in School-aged Children with Down Syndrome
Read more - Increased longevity and the comorbidities associated with intellectual and developmental disability
The contributors, all world experts in their fields, also discuss what we can learn from the presence of comorbidities, however defined, about the aetiology and treatment of neurodevelopmental disabilities.
Read more - Cell phone use by adolescents with Asperger Syndrome
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Please direct media enquiries to our media team:
Elizabeth Chester
Phone: 08 9489 7965 (office)
or 0409 988 530 (mobile)
Email: elizabeth@ichr.uwa.edu.au
Tammy Gibbs
Phone: 08 9489 7963 (office)
or 0408 946 698 (mobile)
Email: tammyg@ichr.uwa.edu.au