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Can Respiratory Hospital Admissions in Children with Cerebral Palsy Be Reduced? A Feasibility Randomized Controlled Trial (RESP-ACT)

To investigate the feasibility of implementing recommendations of the consensus statement for the Prevention and Management of Respiratory Disease in children with severe cerebral palsy (CP) via RESPiratory hospital Admissions in children with cerebral palsy: a feasibility randomized Controlled Trial (RESP-ACT).

Comparing home polysomnography with transcutaneous CO2 monitoring to laboratory polysomnography in children with neuromuscular disorders

Clinical utility of home polysomnography in children with neuromuscular disorders is limited by lack of evidence that sleep-disordered breathing can be reliably identified and inability to diagnose hypoventilation because carbon dioxide is not measured.

The development, content and response process validation of a caregiver-reported severity measure for CDKL5 deficiency disorder

CDKL5 Deficiency Disorder (CDD) is a severe X-linked developmental and epileptic encephalopathy. Existing developmental outcome measures have floor effects and cannot capture incremental changes in symptoms. We modified the caregiver portion of a CDD clinical severity assessment (CCSA) and assessed content and response-process validity. 

Evaluation of the Fetal Alcohol Spectrum Disorder Hub Australia website

To evaluate use and utility of the Fetal Alcohol Spectrum Disorder (FASD) Hub Australia website. 

Fetal alcohol spectrum disorder and Aboriginal and Torres Strait Islander men: A discussion to be had

Fetal alcohol spectrum disorder (FASD) is a lifelong disability of varying severity that occurs among individuals prenatally exposed to alcohol. Among Aboriginal and Torres Strait Islander (Indigenous) Australians, the effects of colonisation and ongoing racism could increase the risk of alcohol consumption during pregnancy.

Substances Detected During Coroner Postmortem Toxicology Analyses in Poisoning- and Nonpoisoning-Related Suicides

Determining the association between drug use and suicide is complicated but can help to inform targeted suicide prevention strategies. 

Down syndrome or Rett syndrome in the family: Parental reflections on sibling experience

Siblings of children with intellectual disability have unique family experiences, varying by type of disability.

A Co-Designed Online Education Resource on Gastrostomy Feeding for Parents and Caregivers to Support Clinical Care

Children with complex needs and severe disability may undergo gastrostomy insertion to support feeding difficulties. Parent education programs are critical components of clinical care pathways but there is little information on parent-reported educational needs. This study describes the collaborative process that yielded a resource to assist parents considering gastrostomy tube placement for their children, and the evaluation of the resource. 

Surfacing undiagnosed disease: consideration, counting and coding

The diagnostic odyssey for people living with rare diseases (PLWRD) is often prolonged for myriad reasons including an initial failure to consider rare disease and challenges to systemically and systematically identifying and tracking undiagnosed diseases across the diagnostic journey.

Understanding the impact of developmental coordination disorder on Belgian children and families: A national survey study

Developmental Coordination Disorder (DCD) is an under-recognized and often trivialized neurodevelopmental condition impacting five to six percent of children. This study aimed to map the impact of DCD on children and their families in Belgium.