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Polymorphisms associated with normal memory variation also affect memory impairment in schizophrenia

Neurocognitive dysfunction is a core feature of schizophrenia with particularly prominent deficits in verbal episodic memory.

An Evaluation of the Overall Utility of Measures of Functioning Suitable for School-Aged Children on the Autism Spectrum: A Scoping Review

A diagnosis of an autism spectrum condition (autism) provides limited information regarding an individual’s level of functioning, information key in determining support and funding needs.

MEIS proteins as partners of the TLX1/HOX11 oncoprotein

Aberrant expression of the TLX1/HOX11 proto-oncogene is associated with a significant subset of T-cell acute lymphoblastic leukemias...

Autistic and autism community perspectives on infant and family support in the first two years of life: Findings from a community consultation survey

Most support programmes for Autistic children are available only after they are diagnosed. Research suggests that parenting supports may be helpful for parents and their infants, when provided in the first 2 years of life - before a formal diagnosis is given, but when information suggests an infant is more likely to be Autistic. However, we do not know how acceptable these types of supports might be to the Autistic and autism communities.

Advancing CNS tumor diagnostics with expanded DNA methylation-based classification

DNA methylation-based classification is now central to contemporary neuro-oncology, as highlighted by the World Health Organization classification of central nervous system tumors. This expansion is a result of newly identified tumor types discovered through our large online repository and global collaborations, underscoring CNS tumor heterogeneity.

Behavioural and neuropsychological outcomes in children exposed in utero to maternal labour epidural analgesia

Recent studies report conflicting results regarding the relationship between labour epidural analgesia (LEA) in mothers and neurodevelopmental disorders in their offspring. We evaluated behavioural and neuropsychological test scores in children of mothers who used LEA.

Histone methyltransferase PRDM9 promotes survival of drug-tolerant persister cells in glioblastoma

Chemotherapy often kills a large fraction of cancer cells but leaves behind a small population of drug-tolerant persister cells. These persister cells survive drug treatments through reversible, non-genetic mechanisms and cause tumour recurrence upon cessation of therapy. Here, we report a drug tolerance mechanism regulated by the germ-cell-specific H3K4 methyltransferase PRDM9. 

Feasibility of a 2-minute eye-tracking protocol to support the early identification of autism

We tested the potential for Gazefinder eye-tracking to support early autism identification, including feasible use with infants, and preliminary concurrent validity of trial-level gaze data against clinical assessment scores. We embedded the ~ 2-min 'Scene 1S4' protocol within a comprehensive clinical assessment for 54 consecutively-referred, clinically-indicated infants (prematurity-corrected age 9-14 months).

Comparative analysis of malignant pleural effusion and peripheral blood reveals unique T cell signatures associated with survival in mesothelioma patients

The success of cancer immunotherapies has highlighted the importance of monitoring the anti-tumour T cell response. Patients with mesothelioma frequently present with a malignant pleural effusion (MPE) that is commonly drained regularly to alleviate symptoms. As MPE contains tumour cells, T cells and cytokines, it provides a unique opportunity to sample immune events at the tumour site.

The valence-specific empathy imbalance hypothesis of autism: The role of autistic traits, alexithymia, emotion dysregulation, and gender differences

Individuals exhibiting pronounced autistic traits (e.g., social differences and specialised interests) may struggle with cognitive empathy (i.e., the ability to infer others' emotions), although the relationship with affective empathy (i.e., the ability to share others' emotions) is less clear in that higher levels of autistic traits may be linked with increased affective empathy for negative emotions but reduced affective empathy for positive emotions. The current study investigates this empathy profile and whether alexithymia and emotion dysregulation help to explain it.

IDH mutant high-grade gliomas

Gliomas are the most common type of malignant primary central nervous system (CNS) tumors, resulting in significant morbidity and mortality in children and adolescent and young adult (AYA) patients. The discovery of mutations in isocitrate dehydrogenase (IDH) genes has dramatically changed the classification and understanding of gliomas.  IDH mutant gliomas have distinct clinical, pathological, and molecular features including a favorable prognosis and response to therapy compared to their wildtype counterparts.

Evidence that infant and early childhood developmental impairments are associated with hallucinatory experiences: Results from a large, population-based cohort study

Cognitive and motor dysfunction are hallmark features of the psychosis continuum, and have been detected during late childhood and adolescence in youth who report psychotic experiences (PE). However, previous investigations have not explored infancy and early childhood development.

Long-Term Outcome of Young Infants With Suspected Neuroblastoma following Observation as Primary Therapy: A Report From the Children's Oncology Group

Several studies have established that patients with localized perinatal neuroblastoma can be safely observed; however, long-term outcomes have not been previously reported. We evaluated long-term outcomes of infants with suspected perinatal neuroblastoma enrolled on the Children's Oncology Group ANBL00P2, which included an expectant observation approach. 

Effect of Preemptive Intervention on Developmental Outcomes Among Infants Showing Early Signs of Autism: A Randomized Clinical Trial of Outcomes to Diagnosis

Intervention for individuals with autism spectrum disorder (ASD) typically commences after diagnosis. No trial of an intervention administered to infants before diagnosis has shown an effect on diagnostic outcomes to date.

Current gaps in knowledge and future research directions for Aboriginal and Torres Strait Islander children with cancer

Paediatric cancer is the leading cause of disease-related death in Australian children. Limited research focuses on cancer in Aboriginal and Torres Strait Islander children. Although there appears to be a lower incidence of cancer overall in Aboriginal and Torres Strait Islander children compared with non-Indigenous children, a high proportion of Aboriginal and Torres Strait Islander children are diagnosed with acute myeloid leukaemia.

Genetic counseling as preventive intervention: toward individual specification of transgenerational autism risk

Although autism spectrum disorders (ASD) are among the most heritable of all neuropsychiatric syndromes, most affected children are born to unaffected parents. Recently, we reported an average increase of 3-5% over general population risk of ASD among offspring of adults who have first-degree relatives with ASD in a large epidemiologic family sample.

Clinical Characteristics and Outcomes of Central Nervous System Tumors Harboring NTRK Gene Fusions

Tropomyosin receptor kinase (TRK) fusions are detected in less than 2% of central nervous system tumors. There are limited data on the clinical course of affected patients. 

Get it right, make it easy, see it all: Viewpoints of autistic individuals and parents of autistic individuals about the autism diagnostic process in Australia

The clinical process for being evaluated for an autism diagnosis is often time consuming and stressful for individuals and their caregivers. While experience of and satisfaction with the diagnostic process has been reviewed in the literature, few studies have directly investigated the viewpoints of individuals diagnosed with autism and caregivers of autistic individuals about what is important in the autism diagnostic process.

IDH-mutant gliomas in children and adolescents - from biology to clinical trials

Gliomas account for nearly 30% of all primary central nervous system (CNS) tumors in children and adolescents and young adults (AYA), contributing to significant morbidity and mortality. The updated molecular classification of gliomas defines molecularly diverse subtypes with a spectrum of tumors associated with age-distinct incidence.