Search
Research
Community participation for girls and women living with Rett syndromeThis paper aimed to describe the relationships between level of impairment and participation in community activities for girls and women with Rett syndrome.
Research
Gastrointestinal dysmotility in rett syndromeThrough evidence review and the consensus of an expert panel, we developed recommendations for the clinical management of gastroesophageal reflux disease,...
Research
A core outcome set to assess chronic pain interference and impact on emotional functioning for children and young people with cerebral palsyAim: To: (1) develop a core outcome set (COS) to assess chronic pain interference and impact on emotional functioning for children and young people with cerebral palsy (CP) with varying communication, cognitive, and functional abilities; (2) categorize the assessment tools according to reporting method or observer-reported outcome measures; and (3) categorize the content of tools in the COS according to the International Classification of Functioning, Disability and Health (ICF).
Research
Modifiable child and caregiver factors that influence community participation among children with Down syndromeTo investigate modifiable child and caregiver factors influencing community participation among children with Down syndrome.
Research
A brief history of MECP2 duplication syndrome: 20-years of clinical understandingMECP2 duplication syndrome (MDS) is a rare, X-linked, neurodevelopmental disorder caused by a duplication of the methyl-CpG-binding protein 2 (MECP2) gene-a gene in which loss-of-function mutations lead to Rett syndrome (RTT). MDS has an estimated live birth prevalence in males of 1/150,000.
Research
CDKL5 deficiency disorder: clinical features, diagnosis, and managementCDKL5 deficiency disorder (CDD) was first identified as a cause of human disease in 2004. Although initially considered a variant of Rett syndrome, CDD is now recognised as an independent disorder and classified as a developmental epileptic encephalopathy.
Research
A longitudinal examination of perinatal testosterone, estradiol and vitamin D as predictors of handedness outcomes in childhood and adolescenceThe developmental origins of handedness remain elusive, though very early emergence suggests individual differences manifesting in utero could play an important role. Prenatal testosterone and Vitamin D exposure are considered, yet findings and interpretations remain equivocal.
Research
Pain coping tools for children and young adults with a neurodevelopmental disability: A systematic review of measurement propertiesTo systematically identify and evaluate the measurement properties of patient-reported outcome measures (PROMs) and observer-reported outcome measures (parent proxy report) of pain coping tools that have been used with children and young adults (aged 0–24 years) with a neurodevelopmental disability.
Research
Systematic Review and Meta-analysis: Mental Health in ChildrenThe behavioral phenotype of neurogenetic disorders associated with intellectual disability often includes psychiatric comorbidity. The objectives of this systematic review and meta-analysis were to systematically review the prevalence of psychiatric disorders and symptoms in children and adolescents
Research
Survival of children and adolescents with intellectual disability following gastrostomy insertionWhilst gastrostomy insertion was associated with lower survival rates than children without gastrostomy, survival improved with time