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Showing results for "Neuromuscular disorders "

The presentation of dissociative symptoms in childhood and early adolescence: A systematic review and thematic synthesis of 30 case studies

Dissociative disorders in children and young adolescents are under-recognised and under-treated. Current diagnostic criteria rely on downward extensions of adult models and do not adequately consider developmental differences in younger populations. This reliance risks overlooking symptom patterns that may be unique in childhood, thereby perpetuating diagnostic gaps and delayed treatment. 

Intellectual Disability

About 2 per cent of children are estimated to have an intellectual disability. The cause of the condition is unknown in at least 50 per cent of cases.

Multigenerational Familial and Environmental Risk for Autism (MINERvA) Network

Emma Helen Glasson Leonard BPsych BSc (Hons) PhD MBChB MPH Senior Research Fellow Principal Research Fellow +61 419 956 946 emma.glasson@

Heavy maternal alcohol consumption and cerebral palsy in the offspring

The aim of this study was to investigate the association between heavy maternal alcohol consumption and pre- peri- and postneonatally acquired cerebral palsy.

Mutational rescue of the activity of high-fidelity Cas9 enzymes

Programmable DNA endonucleases derived from bacterial genetic defense systems, exemplified by CRISPR-Cas9, have made it significantly easier to perform genomic modifications in living cells. However, unprogrammed, off-target modifications can have serious consequences, as they often disrupt the function or regulation of non-targeted genes and compromise the safety of therapeutic gene editing applications. 

Mitochondrial gene expression is required for platelet function and blood clotting

Platelets are anucleate blood cells that contain mitochondria and regulate blood clotting in response to injury. Mitochondria contain their own gene expression machinery that relies on nuclear-encoded factors for the biogenesis of the oxidative phosphorylation system to produce energy required for thrombosis.

Empathy and Autism: Establishing the Structure and Different Manifestations of Empathy in Autistic Individuals Using the Perth Empathy Scale

There is a common mischaracterisation that autistic individuals have reduced or absent empathy. Measurement issues may have influenced existing findings on the relationships between autism and empathy, and the structure of the empathy construct in autism remains unclear.

Parent-reported Areas of Greatest Challenge for their ADHD and/or Autistic Children

This study aimed to understand how parents describe the most challenging behaviors exhibited by their children diagnosed with autism and/or ADHD, how those behaviours impact their family, and whether challenges are directly related to the core characteristics of these conditions. 

Absence of association between maternal adverse events and long-term gut microbiome outcomes in the Australian autism biobank

Maternal immune activation and prenatal maternal stress are well-studied risk factors for psychiatric conditions such as autism and schizophrenia. Animal studies have proposed the gut microbiome as a mechanism underlying this association and have found that risk factor-related gut microbiome alterations persist in the adult offspring.

Illuminating mitochondrial translation through mouse models

Mitochondria are hubs of metabolic activity with a major role in ATP conversion by oxidative phosphorylation (OXPHOS). The mammalian mitochondrial genome encodes 11 mRNAs encoding 13 OXPHOS proteins along with 2 rRNAs and 22 tRNAs, that facilitate their translation on mitoribosomes.