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Intellectual disability in children conceived using assisted reproductive technology

The risk of intellectual disability was increased in children born after assisted reproductive technology in Western Australia from 1994 to 2002

An investigation of the determinants of quality of life in adolescents and young adults with Down syndrome

Quality of life of young people with Down syndrome was most negatively associated with burden of medical conditions, but also with lack of friendships

Use of health services in the last year of life and cause of death in people with intellectual disability: a retrospective matched cohort study

People with intellectual disability were more likely to experience potentially preventable conditions at the end of their lives

Risk of Mortality into Adulthood According to Gestational Age at Birth

To quantify the independent risks of neonatal, postneonatal, 1 to 5 and 6 to 30 year mortality by gestational age and investigate changes in survival over time.

Twenty-five-year survival for aboriginal and caucasian children with congenital heart defects in Western Australia, 1980 to 2010

Long-term survival was lower for Aboriginal children with congenital heart defects

Predictors of seizure onset in Rett syndrome

Information on presence and age at onset of seizures, perinatal and developmental history, and genetic status was abstracted on 275 cases in the Australian...

Rett syndrome in Australia: a review of the epidemiology

To examine the prevalence, cumulative incidence, and survival in an Australian cohort with Rett syndrome (RTT).

Vitamin D deficiency at 16 to 20 weeks' gestation is associated with impaired lung function and asthma at 6 years of age

This paper examines whether a Vitamin D deficiency during pregnancy affects the child's lung function predisposition towards lung disease such as asthma.

Development and initial validation of the Communication Inventory Disability – Observer Reported (CID-OR): a measure of communication in CDKL5 deficiency disorder

CDKL5 Deficiency Disorder (CDD) is a rare neurodevelopmental disorder characterised by early onset seizures combined with complex healthcare needs and developmental impairment that influence functional domains including communication. Communication is a high priority domain for families but currently used measures demonstrate floor effects. 

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.