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Family satisfaction following spinal fusion in Rett syndrome: a cohort study

This study evaluated sixty-one families' satisfaction following spinal fusion in girls with Rett syndrome.

Sub-project Initiation & Approval Process

Accessing the ORIGINS cohort, database or biological samples involves a process of review and approval.

Being social (or not!) in play, any way is OK

This is the second blog in our new series about what play is and its importance.

CDKL5 Publications

Publications from 2017 dating back to 2004 of CDKL5 researchers.

Preparing for the holidays

In this blog, Occupational Therapy Lead Marie Rodatz looks at the strategies to support a great school holiday outing for your autistic child.

Norm Misperception and Witnessing Bullying: The Role of Individual and Contextual Characteristics

Previous studies have shown that when young people witness bullying, perceived social norms of their peer group affect their behavior. However, few studies have examined the specificity of norm misperception (i.e., overestimation of peer antisocial responses and the underestimation of prosocial responses relative to the objective group norm) on specific witness responses (joining in, bystanding or active defending). 

A methodological approach to generate local solutions that promote Aboriginal and Torres Strait Islander social and emotional wellbeing on Kaurna Country, Australia

Aboriginal and Torres Strait Islander communities are diverse, strong and faced with adverse social circumstances and unacceptable health and wellbeing outcomes wrought by colonisation. The need for strengths-based initiatives that tailor services according to local knowledges is well accepted, yet few studies have evaluated self-determined strategies to redress the social determinants of health.

Patient and carer priorities for research and clinical care of children with Down syndrome

Down syndrome, the most common genetic disorder, is caused by the presence of all or part of a third copy of chromosome 21. We identified the top 10 patient and carer research priorities for children with Down syndrome.

Angiogenesis-associated pathways play critical roles in neonatal sepsis outcomes

Neonatal sepsis is a major cause of childhood mortality. Limited diagnostic tools and mechanistic insights have hampered our abilities to develop prophylactic or therapeutic interventions. Biomarkers in human neonatal sepsis have been repeatedly identified as associated with dysregulation of angiopoietin signaling and altered arachidonic acid metabolism. 

Stepwise GATA1 and SMC3 mutations alter megakaryocyte differentiation in a Down syndrome leukemia model

Acute megakaryoblastic leukemia of Down syndrome (DS-AMKL) is a model of clonal evolution from a preleukemic transient myeloproliferative disorder requiring both a trisomy 21 (T21) and a GATA1s mutation to a leukemia driven by additional driver mutations.