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Showing results for "Neuromuscular disorders "

Brief Report: Further Evidence for a Link Between Inner Speech Limitations and Executive Function in High-Functioning Children with Autism

This study investigated the involvement of inner speech limitations in the executive dysfunction associated with autism spectrum disorders (ASDs).

Admissions in Children with Down Syndrome: Experience of a Population-Based Cohort Followed from Birth

This study describes patterns of hospitalisations for children and young people with Down syndrome in Western Australia.

Review of Aboriginal child health services in remote Western Australia identifies challenges and informs solution

We aimed to identify and map child health services in the very remote Fitzroy Valley, West Kimberley, and document barriers to effective service delivery

Differences in serum zinc levels in acutely ill and remitted adolescents and young adults with bulimia nervosa in comparison with healthy controls – a cross-sectional pilot study

Research has implicated that changes in Zn metabolism may be associated with the biological underpinnings of eating disorders, in particular anorexia nervosa.

Identifying SETBP1 haploinsufficiency molecular pathways to improve patient diagnosis using induced pluripotent stem cells and neural disease modelling

SETBP1 Haploinsufficiency Disorder (SETBD) is characterised by mild to moderate intellectual disability, speech and language impairment, mild motor developmental delay, behavioural issues, hypotonia, mild facial dysmorphisms, and vision impairment. Despite a clear link between SETBP1 mutations and neurodevelopmental disorders the precise role of SETBP1 in neural development remains elusive.

Devising a Missing Data Rule for a Quality of Life Questionnaire - A Simulation Study

The aim of this study was to devise an evidence-based missing data rule for the Quality of Life Inventory-Disability (QI-Disability) questionnaire specifying how many missing items are permissible for domain and total scores to be calculated using simple imputation.

The impact for DCD – USA study: The current state of Developmental Coordination Disorder (DCD) in the United States of America

Developmental Coordination Disorder (DCD) is among the most under-recognized and under-supported disorders worldwide. The aim of this study was to present a preliminary national study that evaluated the unmet needs of children with DCD in the USA using the Impact for DCD survey.

Language and reading impairments are associated with increased prevalence of non-right-handedness

Handedness has been studied for association with language-related disorders because of its link with language hemispheric dominance. No clear pattern has emerged, possibly because of small samples, publication bias, and heterogeneous criteria across studies.

The role of exome sequencing in childhood interstitial or diffuse lung disease

Children’s interstitial and diffuse lung disease (chILD) is a complex heterogeneous group of lung disorders. Gene panel approaches have a reported diagnostic yield of ~ 12%. No data currently exist using trio exome sequencing as the standard diagnostic modality.

Developmental Vitamin D Deficiency in Pregnant Rats Does Not Induce Preeclampsia

Preeclampsia is a pregnancy disorder characterized by hypertension. Epidemiological studies have associated preeclampsia with an increased risk of neurodevelopmental disorders in offspring, such as autism and schizophrenia. Preeclampsia has also been linked with maternal vitamin D deficiency, another candidate risk factor also associated with autism.