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Research

Access to Pediatric Neurology Training and Services Worldwide: A Survey by the International Child Neurology Association

Pediatric neurology is the medical subspecialty responsible for diagnosing and managing diseases and disorders of the nervous system in childhood and adolescence. In many, but not all, regions of the world, the discipline of pediatric neurology is recognized as a specialty or subspecialty of either neurology or pediatrics. Significant knowledge and competencies in this area are necessary to be effective in clinical practice. 

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Growth patterns in individuals with CDKL5 deficiency disorder

Aim: To compare growth in individuals with cyclin-dependent kinase-like 5 (CDKL5) deficiency disorder with population norms and to investigate the effect of gastrostomy on growth. 

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Psychosocial and neurocognitive correlates of suicidal thoughts and behaviours amongst siblings of persons with and without neurodevelopmental conditions

Siblings of individuals with neurodevelopmental conditions (NDCs) have greater incidence of neuropsychiatric diagnoses and neurocognitive difficulties compared to siblings of persons without NDCs. Despite suicidality being labelled a global health crisis (WHO, 2014) and NDC siblings experiencing risk factors implicated in suicidality, no previous studies examined suicidality amongst adolescent and young adult siblings of persons with NDCs. Our study aimed to bridge this gap.

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Risk of Developmental Disorders in Children of Immigrant Mothers: A Population-Based Data Linkage Evaluation

Increased risk of autism spectrum disorder with intellectual disability and cerebral palsy with intellectual disability for mothers of some foreign-born groups

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Impact of biobanks on research outcomes in rare diseases: a systematic review

This review made the important observation that registries with biobanks had the function of both stand-alone registries and stand-alone rare disease biobanks

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Epidemiology of gastrostomy insertion for children and adolescents with intellectual disability

Gastrostomy is increasingly used in multiple neurological conditions associated with intellectual disability, with no apparent accessibility barriers

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Very Early Identification and Intervention for Infants at Risk of Neurodevelopmental Disorders: A Transdiagnostic Approach

In this article, we examine the utility of a transdiagnostic, dimensional approach to very early identification and intervention for infants at risk of neurodevelopmental disorders

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Measurement of Sedentary Behaviors or "downtime" in Rett Syndrome

This study aimed to validate measures of sedentary time in individuals with Rett syndrome.

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PCV10 elicits Protein D IgG responses in Papua New Guinean children but has no impact on NTHi carriage in the first two years of life

Nasopharyngeal colonisation with nontypeable Haemophilus influenzae (NTHi) is associated with development of infections including pneumonia and otitis media. The 10-valent pneumococcal conjugate vaccine (PCV10) uses NTHi Protein D (PD) as a carrier. Papua New Guinean children have exceptionally early and dense NTHi carriage, and high rates of NTHi-associated disease.

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Longitudinal Evaluation of the Stability of Hand Function in Rett Syndrome

We investigated the longitudinal stability of hand function in Rett syndrome and to analyze further the relationships between stability of hand function and genotype, age, and walking ability. Study design: Longitudinal video data of functional abilities of individuals with genetically confirmed Rett syndrome were collected by families of individuals registered with the Australian Rett Syndrome Database.