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        Research

        An exploratory study on the role of criminogenic risk factors and informant-rated everyday executive functioning in predicting the age of offending onset in young people with FASD

        Fetal Alcohol Spectrum Disorder (FASD) is characterised by a range of neurodevelopmental deficits that may increase risks of justice system involvement. Improving our understanding of criminogenic risk factors and particularly the role of informant-rated executive functioning (EF) in predicting the age of offending onset in this clinical population may reduce recidivism and help inform targeted interventions. ...

        Research

        Down syndrome or Rett syndrome in the family: Parental reflections on sibling experience

        Siblings of children with intellectual disability have unique family experiences, varying by type of disability. ...

        Research

        Hospitalizations from Birth to 28 Years in a Population Cohort of Individuals Born with Five Rare Craniofacial Anomalies in Western Australia

        To describe trends, age-specific patterns, and factors influencing hospitalizations for 5 rare craniofacial anomalies. ...

        Research

        Individual-Level Risk and Resilience Factors Associated with Mental Health in Siblings of Individuals with Neurodevelopmental Conditions: A Network Analysis

        Siblings of individuals with neurodevelopmental conditions (NDCs) are exposed to unique family environments and experience a range of psychosocial risk and resilience factors. ...

        Research

        How Families Manage the Complex Medical Needs of Their Children with MECP2 Duplication Syndrome

        MECP2 duplication syndrome (MDS) is a rare, X-linked, neurodevelopmental disorder resulting from the duplication of the methyl-CpG-binding protein 2 (MECP2) gene. The clinical features of MDS include severe intellectual disability, global developmental delay, seizures, recurrent respiratory infections, and gastrointestinal problems. The aim of this qualitative study was to explore how the parents of children with MDS manage their child's seizures, recurrent respiratory infections, and gastrointestinal symptoms, and the impact on them as parents. ...

        Research

        Can Wearable Inertial Measurement Units Be Used to Measure Sleep Biomechanics? Establishing Initial Feasibility and Validity

        Wearable motion sensors, specifically, Inertial Measurement Units, are useful tools for the assessment of orientation and movement during sleep. The DOTs platform (Xsens, Enschede, The Netherlands) has shown promise for this purpose. This pilot study aimed to assess its feasibility and validity for recording sleep biomechanics. ...

        Research

        Total population investigation of dental hospitalizations in Indigenous children under five years in Western Australia using linked data

        The aim of this study was to compare dental hospital admissions in a total state birth population of Indigenous and non-Indigenous children aged under five... ...

        Research

        Updating the profile of C-terminal MECP2 deletions in Rett syndrome

        This study aimed to compare the phenotype of Rett syndrome cases with C-terminal deletions to that of cases with different MECP2 mutations ...

        Research

        Epilepsy and mental retardation limited to females with PCDH19 mutations can present de novo or in single generation families

        Epilepsy and mental retardation limited to females (EFMR) is an intriguing X-linked disorder affecting heterozygous females and sparing hemizygous males. ...

        Research

        Rare childhood diseases: how should we respond?

        Paradoxically, rare diseases are common, collectively affecting 6-10% of the population and have a huge impact on patients and families, health services,... ...

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