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Research

Late-talking and risk for behavioral and emotional problems during childhood and adolescence

Although many toddlers with expressive vocabulary delay ("late talkers") present with age-appropriate language skills by the time they are of school age,...

Research

Re-analysis of the association between perinatal androgens and postnatal head circumference growth

This paper is a correction of an earlier report that identified a link between exposure to high levels of testosterone during pregnancy and reduced head...

Research

Tricho-hepatic-enteric syndrome (THES) without intractable diarrhoea

We report an 8 year old girl who was diagnosed with THES by the Undiagnosed Disease Program-WA with compound heterozygous pathogenic variants in SKIV2L

Research

Perinatal testosterone exposure and cerebral lateralisation in adult males: Evidence for the callosal hypothesis

Two competing theories address the influence of foetal testosterone on cerebral laterality: one proposing exposure to high foetal testosterone concentrations...

Research

Prenatal, perinatal, and neonatal risk factors for specific language impairment: A prospective pregnancy cohort study

Although genetic factors are known to play a causal role in specific language impairment (SLI), environmental factors may also be important. This study...

Research

Parent-reported Early Atypical Development and Age of Diagnosis for Children with Co-occurring Autism and ADHD

Autism and attention-deficit/hyperactivity disorder (ADHD) often co-occur. This survey of 288 New Zealand parents of children diagnosed with autism, ADHD, or both conditions, examined the relations between age of diagnosis and early atypical development, the age specialist consultation was needed and types of specialists seen.

Research

A Survey of Autistic Adults from New Zealand on the Autism Diagnostic Process During Adolescence and Adulthood

The diagnostic experiences of autistic adults in New Zealand have not been investigated and little is known globally about autistic adults' satisfaction with the autism diagnostic process. This study describes the diagnostic experiences of 70 autistic adults living in New Zealand and explores how these experiences are related to satisfaction during three stages of the diagnostic process. The results show that autistic adults were reasonably satisfied with the early query and diagnostic assessment stages, but were dissatisfied with the post-diagnostic support stage, with significant unmet needs. Dissatisfaction during the post-diagnostic support stage was also related to satisfaction during previous stages and poor coordination of supports. Suggestions are made on how to improve the autism diagnostic pathway for autistic adults in New Zealand.

Research

Does perinatal exposure to exogenous oxytocin influence child behavioural problems and autistic-like behaviours to 20 years of age

This study is the first to investigate longitudinal mental health outcomes associated with the use of oxytocin-based medications during labour

Computational Biology

The aim of the Computational Biology team is to understand how individual bases in our genome predispose, alter and interact in normal and disease contexts.

Research

A realist evaluation of peer mentoring support for university students with autism

Standard peer mentoring approaches can be enhanced to meet the needs of students with ASD by including training for mentors on ASD

Research

Pushing the boundaries of rare disease diagnostics with the help of the first Undiagnosed Hackathon

Timo Lassmann BSc (Hons) MSc PhD Feilman Fellow; Head, Precision Health Research and Head, Computational Biology timo.lassmann@thekids.org.au

Research

Measurement of androgen and estrogen concentrations in cord blood: Accuracy, biological interpretation, and applications to understanding human behavioral development

This review examines the accuracy and biological interpretation of the measurement of androgens and estrogens in cord blood. The use of cord blood hormones...

People

Timo Lassmann

Feilman Fellow; Head, Precision Health Research and Head, Computational Biology

Research

Inner speech impairments in autism

Three experiments investigated the role of inner speech deficit in cognitive performances of children with autism.

Research

Study Protocol for a Stepped-Wedge Cluster (Nested) Randomized Controlled Trial of Antenatal Colostrum Expression (ACE) Instruction in First-Time Mothers: The ACE Study

Although many mothers initiate breastfeeding, supplementation with human-milk substitutes (formula) during the birth hospitalization is common and has been associated with early breastfeeding cessation. Colostrum hand expressed in the last few weeks before birth, known as antenatal colostrum expression (ACE), can be used instead of human-milk substitutes. However, evidence is lacking on the efficacy of ACE on breastfeeding outcomes and in non-diabetic mothers. 

Research

The psychosocial impact of childhood dementia on children and their parents: a systematic review

Childhood dementias are a group of rare and ultra-rare paediatric conditions clinically characterised by enduring global decline in central nervous system function, associated with a progressive loss of developmentally acquired skills, quality of life and shortened life expectancy. Traditional research, service development and advocacy efforts have been fragmented due to a focus on individual disorders, or groups classified by specific mechanisms or molecular pathogenesis.

Research

Genomic analyses in Cornelia de Lange Syndrome and related diagnoses: Novel candidate genes, genotype–phenotype correlations and common mechanisms

Cornelia de Lange Syndrome (CdLS) is a rare, dominantly inherited multisystem developmental disorder characterized by highly variable manifestations of growth and developmental delays, upper limb involvement, hypertrichosis, cardiac, gastrointestinal, craniofacial, and other systemic features.

Research

Promoter-level expression clustering identifies time development of transcriptional regulatory cascades initiated by ERBB receptors in breast cancer cells

The analysis of CAGE (Cap Analysis of Gene Expression) time-courses has been applied to examine the dynamics of enhancer and promoter by sequentially...

Research

CAGE-defined promoter regions of the genes implicated in Rett Syndrome

A comprehensive picture of the regulatory regions of the three genes involved in Rett Syndrome