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The triple challenges associated with age-related comorbidities in Down syndrome

Major increases in the survival of people with Down syndrome during the last two generations have resulted in extended periods of adulthood requiring...

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...

The Western Australian family connections genealogical project: Detection of familial occurrences of single gene and chromosomal Disorders

This study utilised a Western Australian (WA) genealogical database for the identification of single gene and chromosome disorders among families.

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.

Admissions in Children with Down Syndrome: Experience of a Population-Based Cohort Followed from Birth

This study describes patterns of hospitalisations for children and young people with Down syndrome in Western Australia.

The contributions of fetal growth restriction and gestational age to developmental outcomes at 12 months of age: A cohort study

Developmental assessment of infants with fetal growth restriction was mostly comparable to those born without fetal growth restriction at 12 months

The misnomer of ‘high functioning autism’: Intelligence is an imprecise predictor of functional abilities at diagnosis

We argue that 'high functioning autism' is an inaccurate clinical descriptor when based solely on intelligence quotient demarcations

Incidence and associated risk factors for falls in adults with intellectual disability

People with intellectual disability fall at a younger age compared with the broader community

The incidence, prevalence and clinical features of MECP2 duplication syndrome in Australian children

MECP2 duplication syndrome is a rare but important diagnosis in children because of the burden of respiratory illness and recurrence risk