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Research

qPCR assay optimisation for a clinical study comparing oral health risk in Rett syndrome

This study aimed to validate qPCR assays for specific microbiota, for use on dental plaque samples stored on Whatman FTA cards to compare relative oral health risk in Rett syndrome.

Research

Functional outcomes in children and adolescents with neurodisability accessing music therapy: A scoping review

To determine the evidence for functional outcomes experienced by a population with paediatric neurodisability (such as acquired brain injury, cerebral palsy, spinal cord injury, and other neurological disorders), who access music therapy through neurorehabilitation services across the rehabilitation spectrum. 

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Childhood leukaemia in Down's syndrome primed by blood-cell bias

An in-depth investigation of gene regulation and cell populations at sites of fetal blood-cell production provides clues as to why children with Down’s syndrome are predisposed to developing leukaemia.

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Key elements of Goal-Directed Training for children with cerebral palsy: A qualitative content analysis

Goal-directed training is an evidence-based occupational therapy intervention for children with cerebral palsy targeting motor performance and goal attainment. There is variability and limited description on goal-directed training delivery within the studies who found it a successful intervention. The aim of this study was to establish the who, what, why and how of goal directed training according to practicing occupational therapists.

Research

What I Wish I Had Known: Examining Parent Accounts of Managing the Health of Their Child With Intellectual Disability

Appropriate support for the health of children with an intellectual disability by parents and healthcare professionals is pivotal, given the high risk of chronic conditions. However, there is limited research that has collected important insights from parents on their learnings for supporting their child's evolving healthcare needs.

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Diagnostic services for developmental coordination disorder: Gaps and opportunities identified by parents

Affecting 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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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. 

Research

Application of Inertial Measurement Units and Machine Learning Classification in Cerebral Palsy: Randomized Controlled Trial

Cerebral palsy (CP) is a physical disability that affects movement and posture. Approximately 17 million people worldwide and 34,000 people in Australia are living with CP. In clinical and kinematic research, goniometers and inclinometers are the most commonly used clinical tools to measure joint angles and positions in children with CP.

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Cerebral palsy: Epidemiology

Cerebral 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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Factors influencing the attainment of major motor milestones in CDKL5 deficiency disorder

This study investigated the influence of factors at birth and in infancy on the likelihood of achieving major motor milestones in CDKL5 Deficiency Disorder (CDD). Data on 350 individuals with a pathogenic CDKL5 variant was sourced from the International CDKL5 Disorder Database.