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Research

CDKL5 deficiency disorder: clinical features, diagnosis, and management

CDKL5 deficiency disorder (CDD) was first identified as a cause of human disease in 2004. Although initially considered a variant of Rett syndrome, CDD is now recognised as an independent disorder and classified as a developmental epileptic encephalopathy.

Research

A longitudinal examination of perinatal testosterone, estradiol and vitamin D as predictors of handedness outcomes in childhood and adolescence

The developmental origins of handedness remain elusive, though very early emergence suggests individual differences manifesting in utero could play an important role. Prenatal testosterone and Vitamin D exposure are considered, yet findings and interpretations remain equivocal.

Research

Pain coping tools for children and young adults with a neurodevelopmental disability: A systematic review of measurement properties

To systematically identify and evaluate the measurement properties of patient-reported outcome measures (PROMs) and observer-reported outcome measures (parent proxy report) of pain coping tools that have been used with children and young adults (aged 0–24 years) with a neurodevelopmental disability.

Research

Sertraline for anxiety in adults with a diagnosis of autism (STRATA): study protocol for a pragmatic, multicentre, double-blind, placebo-controlled randomised controlled trial

Selective serotonin reuptake inhibitors (SSRIs) are commonly prescribed to manage anxiety in adults with an autism diagnosis. However, their effectiveness and adverse effect profile in the autistic population are not well known. This trial aims to determine the effectiveness and cost-effectiveness of the SSRI sertraline in reducing symptoms of anxiety and improving quality of life in adults with a diagnosis of autism compared with placebo and to quantify any adverse effects. 

Research

Psychosocial wellbeing, parental concerns, and familial impact of children with developmental coordination disorder

Developmental Coordination Disorder (DCD) is a neurodevelopmental condition impacting motor skill acquisition and competence. While previous studies have identified adverse psychosocial outcomes in DCD, they are limited by small or population-screened, community-based samples.

Research

Thriving families: The feasibility and preliminary efficacy of a multi-component physical literacy program for children with neurodevelopmental, emotional, or behavioural problems

Children with neurodevelopmental, emotional, or behavioural challenges participate in lower levels of physical activity (PA) and subsequently have poorer physical and mental health outcomes. We sought to determine the feasibility and preliminary efficacy of a multi-component physical literacy program for children with neurodevelopmental, emotional, or behavioural challenges.

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. 

Research

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. 

Research

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.

Research

Hospitalizations Following Complex Hip Surgery in Children with Intellectual Disability: A Self-Controlled Case Series Analysis

To evaluate the associations between complex hip surgery and subsequent hospitalizations in children with intellectual disability, including a subset of children with cerebral palsy.