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Level of purposeful hand function as a marker of clinical severity in Rett syndromeWe investigated relationships between hand function and genotype and aspects of phenotype in Rett syndrome
Research
Valproate and risk of fracture in Rett syndromeThis study investigated the relationships between fracture risk and commonly used AEDs in Rett syndrome.
The Quality of Life Inventory - Disability
Research
Multigenerational Familial and Environmental Risk for Autism (MINERvA) NetworkThe MINERvA Network will allow more accurate and precise determination of the contributions of familial and environmental factors to the etiology of autism.
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Diagnostic services for developmental coordination disorder: Gaps and opportunities identified by parentsAffecting one in 20 children, Developmental Coordination Disorder (DCD) is a common neurodevelopmental disorder impacting a child's ability to learn motor skills. Despite its high prevalence, DCD is under-recognized and under-diagnosed, causing unnecessary frustration and stress for families who are seeking help for their child. This study aimed to understand how parents procure diagnostic services and their perspectives on needed supports and services to improve early identification and diagnosis of DCD.
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Who suffered most? Parental stress and mental health during the COVID-19 pandemic in GermanyThis study examines gender and socioeconomic inequalities in parental psychological wellbeing (parenting stress and psychological distress) during the COVID-19 pandemic in Germany. Background: The dramatic shift of childcare and schooling responsibility from formal institutions to private households during the pandemic has put families under enormous stress and raised concerns about caregivers’ health and wellbeing.
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A Co-Designed Online Education Resource on Gastrostomy Feeding for Parents and Caregivers to Support Clinical CareChildren 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.
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Surfacing undiagnosed disease: consideration, counting and codingThe 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.
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Evaluation of the Fetal Alcohol Spectrum Disorder Hub Australia websiteTo evaluate use and utility of the Fetal Alcohol Spectrum Disorder (FASD) Hub Australia website.
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The development, content and response process validation of a caregiver-reported severity measure for CDKL5 deficiency disorderCDKL5 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.