Search

Impact for Tourette’s

Impact for Tourette’s is Australia’s first national project evaluating the unmet needs of people with Tourette syndrome and other tic conditions.

Development and initial validation of the Communication Inventory Disability – Observer Reported (CID-OR): a measure of communication in CDKL5 deficiency disorder

CDKL5 Deficiency Disorder (CDD) is a rare neurodevelopmental disorder characterised by early onset seizures combined with complex healthcare needs and developmental impairment that influence functional domains including communication. Communication is a high priority domain for families but currently used measures demonstrate floor effects. 

A genome-wide association study of total child psychiatric problems scores

Substantial genetic correlations have been reported across psychiatric disorders and numerous cross-disorder genetic variants have been detected. To identify the genetic variants underlying general psychopathology in childhood, we performed a genome-wide association study using a total psychiatric problem score.

School services

Schools play a major role in supporting young people with emotional and behavioural problems and are often where symptoms are first identified.

Modelling quality of life in children with intellectual disability using regression trees

To identify factors associated with quality of life (QoL) in children with intellectual disability. We aimed to identify patterns of association not observable in previous hypothesis-driven regression modelling using the same data set from a cross-sectional observational study.

Phase 2 of CATALISE: a multinational and multidisciplinary Delphi consensus study of problems with language development: Terminology

Lack of agreement about criteria and terminology for children's language problems affects access to services as well as hindering research and practice.

Low intake of B-vitamins is associated with poor adolescent mental health and behaviour

The current prevalence of mental health problems in Western populations is approximately 20% and half of all adult mental health disorders are estimated to...

Telethon Institute Research project in nation's top 10

Telethon Institute Research project in nation's top 10

Down syndrome studies; the transition from secondary school to adulthood: Experiences and life outcomes for youth with an intellectual disability and their families

Helen Jenny Keely Leonard Downs Bebbington MBChB MPH BApplSci (physio) MSc PhD MClinPsych/PhD Principal Research Fellow Head, Child Disability

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.