A5016533593- Genetics and Neurodevelopmental Disorders
- Language Development and Disorders
- Genomic variations and chromosomal abnormalities
- Genomics and Rare Diseases
- Autism Spectrum Disorder Research
- Congenital heart defects research
- Epigenetics and DNA Methylation
- Tracheal and airway disorders
- Genetic Syndromes and Imprinting
- Infant Development and Preterm Care
- Phonetics and Phonology Research
- Stuttering Research and Treatment
- Hearing Loss and Rehabilitation
- Voice and Speech Disorders
- Neurobiology of Language and Bilingualism
- Chromatin Remodeling and Cancer
- Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
- RNA modifications and cancer
- Neonatal Respiratory Health Research
- Family and Disability Support Research
- Silicone and Siloxane Chemistry
- Cardiac Structural Anomalies and Repair
- Hearing, Cochlea, Tinnitus, Genetics
- Infant Health and Development
- Dysphagia Assessment and Management
Murdoch Children's Research Institute
2018-2025
The University of Melbourne
2019-2025
Google (United States)
2023
Radboud University Nijmegen
2022
Radboud University Medical Center
2022
University Medical Center
2022
Overlapping clinical phenotypes and an expanding breadth complexity of genomic associations are a growing challenge in the diagnosis management Mendelian disorders. The functional consequences impacts variation may involve unique, disorder-specific, DNA methylation episignatures. In this study, we describe 19 novel episignature disorders compare findings alongside 38 previously established episignatures for total 57 associated with 65 genetic syndromes. We demonstrate increasing resolution...
An expanding range of genetic syndromes are characterized by genome-wide disruptions in DNA methylation profiles referred to as episignatures. Episignatures distinct, highly sensitive, and specific biomarkers that have recently been applied clinical diagnosis syndromes. contained within the broader disorder-specific changes, which can share significant overlap among different conditions. In this study, we performed functional genomic assessment comparison overlapping changes related 65 with...
Pathogenic KAT6A variants cause syndromic neurodevelopmental disability. "Speech delay" is reported, yet none have examined specific speech and language features of syndrome. Here we phenotype the communication profile individuals with pathogenic variants. Medical data were acquired via standardized surveys telehealth-assessment. Forty-nine (25 females; aged 1;5-31;10) recruited, most truncating (44/49). Intellectual disability/developmental delay (42/45) was common, mostly moderate/severe,...
Abstract Aim To examine the adaptive behaviour profiles of children with monogenic neurodevelopmental disorders (NDDs) to determine whether syndrome‐specific or transdiagnostic approaches provide a better understanding behavioural phenotypes these NDDs. Method This cross‐sectional study included parents and caregivers 243 (48% female) individuals (age range = 1–25 years; mean 8 years 10 months, SD 5 months) genetically confirmed NDDs ( CDK13 , DYRK1A FOXP2 KAT6A KANSL1 SETBP1 BRPF1 DDX3X )....
Purpose: To our knowledge, there are no data examining the agreement between self-reported and clinician-rated stuttering severity. In era of big data, ratings have great potential utility for large-scale collection, where cost time preclude in-depth assessment by a clinician. Equally, is increasing emphasis on need to recognize an individual's experience their own condition. Here, we examined severity compared clinician during speech assessment. As secondary objective, determined whether...
Purpose Language difficulties are prevalent among children born preterm. Existing studies have largely used standardized language tests, providing limited scope for detailed descriptive examination of preterm language. This study aimed to examine differences in conversational between < 30 weeks and at term as well correlations sample analysis (LSA) a tool. Method Two hundred four 3-year-olds (103 weeks, 101 term) recruited birth provided 10-min completed the Preschool Scales-Fifth Edition...
Abstract Neurexin 1 gene ( NRXN1 ) deletions are associated with several neurodevelopmental disorders. Communication difficulties have been reported, yet no study has examined specific speech and language features of individuals deletions. Here, we characterized phenotypes in 21 children (14 families), aged 1.8–17 years, Deletions ranged from 74 to 702 kb consisted mostly either exons 1–3 or 1–5. Speech sound disorders were frequent (69%), although few severe. The majority (57%) had...
Aim To compare language, speech, and voice of children born preterm at term, determine relevant predictors outcome. Method Three hundred infants (150 males, 150 females; 149 <30wks’ gestation, 151 term‐born) were prospectively recruited birth from the Royal Women's Hospital. We administered Preschool Language Scales, Fifth Edition, Diagnostic Evaluation Articulation Phonology, Grade Roughness Breathiness Asthenia Strain Scale, Pediatric Voice Handicap Index 3 years, compared groups....
Abstract Background Congenital hearing loss is the most common birth anomaly, typically influencing speech and language development, with potential for later academic, social employment impacts. Yet, surprisingly, nuances of how affected have not been well examined regards to subtypes speech‐sound disorder (SSD). Nor predictors outcome investigated within a sizeable population cohort. Aims (1) To describe prevalence SSD in children loss. (2) determine which characteristics predict presence...
Abstract Speech and language impairment is core in Koolen-de Vries syndrome (KdVS), yet only one study has examined this empirically. Here we define speech, language, functional/adaptive behaviour KdVS; while deeply characterising the medical/neurodevelopmental phenotype largest cohort to date. Speech, literacy, social skills were assessed using standardised measures, alongside an in-depth health medical questionnaire. 81 individuals with KdVS recruited (35 female, mean age 9 y 10mo), 56 of...
Diagnosis of a speech or language disorder can impose lifelong impacts on literacy, social skills and employment outcomes. Rare genetic neurodevelopmental disorders are often accompanied by in childhood with subsequent deleterious impacts. Although individually rare, collectively they common contribute to vast number individuals living across the world. My project aims phenotype communication profiles recently identified, but poorly understood conditions relevance field including those...