Search
Research
Surgical fusion of early onset severe scoliosis increases survival in Rett syndrome: A cohort studyWe investigated the impact of spinal fusion on survival and risk of severe lower respiratory tract infection in Rett syndrome.
Research
Early mortality and primary causes of death in mothers of children with intellectual disability or Autism spectrum disorderMothers of children with intellectual disability or autism spectrum disorder (ASD) have poorer health than other mothers.
Research
The effect of functioning on Quality of Life Inventory-Disability measured quality of life is not mediated or moderated by parental psychological distressThe measurement of quality of life (QOL) in children with intellectual disability often relies upon proxy report via caregivers. The current study investigated whether caregiver psychological distress mediates or moderates the effects of impairment on their ratings of QOL in children with intellectual disability.
Research
Neonatal complications in public and private patients: A retrospective cohort studyDespite the rates of low Apgar scores being higher in public patients, the rates of special care admission were lower.
Research
Using a large international sample to investigate epilepsy in Rett syndromeThe aim of this study was to identify characteristics of epilepsy in Rett syndrome (RTT), and relationships between epilepsy and genotype.
Research
Young people with intellectual disability transitioning to adulthood: Do behaviour trajectories differ in those with and without down syndromeChanges in emotional and behavioural problems for young people with intellectual disability with and without Down syndrome as they transition into adulthood
Research
CDKL5 variants: Improving our understanding of a rare neurologic disorderProviding new insights into the interpretation of genetic variants in a rare neurologi disorder, in the contexts of population sequencing data.
Research
Health care utilization and costs for children and adults with duchenne muscular dystrophyAnnual economic cost of Duchenne Muscular Dystrophy was found to be high, reflecting a significant socioeconomic burden, especially in boys who reach adulthood
Research
Prevalence and onset of comorbidities in the CDKL5 disorder differ from Rett syndromeThere were differences in the presentation of clinical features occurring in the CDKL5 disorder and in Rett syndrome.
Research
Autism risk associated with parental age and with increasing difference in age between the parentsIncreases in ASD was not only limited to advancing paternal or maternal age alone but also to differences parental age including younger or older similarly age