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This study utilised a Western Australian (WA) genealogical database for the identification of single gene and chromosome disorders among families.
This study aimed to explore relationships between family quality of life, day occupations and activities of daily living of young persons with Down syndrome.
This study describes patterns of hospitalisations for children and young people with Down syndrome in Western Australia.
Hand function is particularly affected and we discuss theoretical and practical perspectives for optimising hand function in Rett syndrome.
Participation for girls and women with Rett syndrome could be enhanced by stronger local community supports.
The transition from school to adulthood for young adults with an intellectual disability involves movement from a generally secure and supported school...
The positive association between caesarean section (CS) and autism spectrum disorder (ASD) may be attributed to preterm delivery.
People with two or more copies of MECP2 gene, located at Xq28, share clinical features and a distinct facial phenotype called MECP2 Duplication syndrome.
Parents of children living with rare chronic and complex diseases have called for better education and resourcing of health professionals
Our aims were to characterize the abnormal breathing patterns and abdominal bloating, investigate the distribution of these by age and mutation type and examine their impact and management from a caregiver perspective.