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Early determinants of fractures in Rett syndromeThe goals were to compare the fracture incidence in Rett syndrome with that in the general population and to investigate the impact of genotype, epilepsy,...
Research
Siblings of Individuals With Neurodevelopmental Conditions: Perspectives on Risk, Resiliency and Future Research DirectionsSiblings of individuals with neurodevelopmental conditions (NDCs) are at increased genetic and environmental risk for poorer psychosocial and neurocognitive outcomes compared to control groups of siblings of individuals without NDCs.
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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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Genotype and sleep independently predict mental health in Rett syndrome: An observational studyRett syndrome is a genetically caused neurodevelopmental disorder associated with severe impairments and complex comorbidities. This study examined predictors of anxiety and depression in Rett syndrome, including genotype.
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The Effect of Mineral Trioxide Aggregate Obturation Levels on the Outcome of Endodontic Retreatment: An Observational StudyNo clinical studies have examined the effect of mineral trioxide aggregate (MTA) obturation levels on the outcome of endodontic retreatment. This retrospective study examined treatment outcomes in three cohorts that compared overfilling, flush filling, and underfilling after orthograde retreatment using MTA.
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Risk and resilience factors impacting the mental health and wellbeing of siblings of individuals with neurodevelopmental conditions: A mixed methods systematic reviewThis pre-registered systematic review synthesised and evaluated the existing literature on self-reported mental health and wellbeing of siblings of individuals with neurodevelopmental conditions.
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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.
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Cerebral palsy: EpidemiologyCerebral palsy (CP) is a lifelong physical disability, resulting from maldevelopment or damage to the developing brain. All children with CP have a disorder of movement and posture, but this is often accompanied by disorders of intellect, sensation, behaviour and epilepsy. Long-standing CP registers and surveillance systems estimate the prevalence of CP as approximately 2 per 1000 live births; however variations are seen over time and in different regions of the world.
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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.