A5014176322- Genetics and Neurodevelopmental Disorders
- Language Development and Disorders
- Congenital heart defects research
- Genomics and Rare Diseases
- Family and Disability Support Research
- Autism Spectrum Disorder Research
- RNA modifications and cancer
- Cerebral Palsy and Movement Disorders
- Neurobiology of Language and Bilingualism
- Phonetics and Phonology Research
- Cystic Fibrosis Research Advances
- Lysosomal Storage Disorders Research
- Adenosine and Purinergic Signaling
- Down syndrome and intellectual disability research
- Diabetes and associated disorders
- History of Medical Practice
- Craniofacial Disorders and Treatments
- Connective tissue disorders research
- Polyomavirus and related diseases
- Stuttering Research and Treatment
- Tryptophan and brain disorders
- Viral Infections and Immunology Research
- Genomic variations and chromosomal abnormalities
- Infant Development and Preterm Care
- Glycogen Storage Diseases and Myoclonus
Murdoch Children's Research Institute
2019-2025
The University of Melbourne
2019-2025
Royal Children's Hospital
2020-2024
West Virginia University
2024
University College London
2024
Neurosciences Institute
2024
Great Ormond Street Hospital
2024
La Trobe University
2024
Florey Institute of Neuroscience and Mental Health
2021-2024
Austin Hospital
2024
<h3>Objective</h3> Determining the genetic basis of speech disorders provides insight into neurobiology human communication. Despite intensive investigation over past 2 decades, etiology most in children remains unexplained. To test hypothesis that have a etiology, we performed analysis with severe disorder, specifically childhood apraxia (CAS). <h3>Methods</h3> Precise phenotyping together research genome or exome were on referred primary diagnosis CAS. Gene coexpression and gene set...
Highlights•Humans carrying novel variants in UPF2 exhibit speech and language deficits•Upf2-deficient mice flies have impaired NMD behavioral deficits•Inhibition of Upf2-dependent triggers immune activation mice•Reduction brain inflammation reverses synaptic deficitsSummaryIn humans, disruption nonsense-mediated decay (NMD) has been associated with neurodevelopmental disorders (NDDs) such as autism spectrum disorder intellectual disability. However, the mechanism by which deficient leads to...
To delineate the speech and language phenotype of a cohort individuals with FOXP1-related disorder.We administered standardized test battery to examine oral motor function, receptive expressive language, non-verbal cognition, adaptive behaviour. Clinical history cognitive assessments were analysed together findings.Twenty-nine patients (17 females, 12 males; mean age 9y 6mo; median 8y [range 2y 7mo-33y]; SD 6y 5mo) pathogenic FOXP1 variants (14 truncating, three missense, splice site, one...
Childhood apraxia of speech (CAS), the prototypic severe childhood disorder, is characterized by motor programming and planning deficits. Genetic factors make substantive contributions to CAS aetiology, with a monogenic pathogenic variant identified in third cases, implicating around 20 single genes date. Here we aimed identify molecular causation 70 unrelated probands ascertained CAS. We performed trio genome sequencing. Our bioinformatic analysis examined nucleotide, indel, copy number,...
Background Heterozygous disruptions of FOXP2 were the first identified molecular cause for severe speech disorder: childhood apraxia (CAS), and yet few cases have been reported, limiting knowledge condition. Methods Here we phenotyped 28 individuals from 17 families with pathogenic -only variants (12 loss-of-function, five missense variants; 14 males; aged 2 to 62 years). Health development (cognitive, motor, social domains) examined, including language outcomes cross-linguistic analysis...
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 )....
With increasing gene discoveries for severe speech disorders, genomic testing can alter the diagnostic and clinical paradigms, enabling better life outcomes children their families. However, evidence on value of generated is lacking, impeding optimal translation into health care. This study aims to estimate uptake childhood disorders. A discrete choice experiment was undertaken elicit preferences from perspective Australian public (n = 951) parents experiencing disorder 56). Choice...
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...
To determine whether specific speech, language, and oromotor profiles are associated with different patterns of polymicrogyria, we assessed 52 patients polymicrogyria using a battery standardized tests correlated findings topography severity polymicrogyria.Patients were identified via clinical research databases invited to participate, irrespective cognitive verbal language abilities. We conducted assessments structure function, nonverbal IQ. Data analyzed according normative assessment data...
Purpose: Stickler Syndromes are multisystem collagenopathies affecting 1 in 7500-9000 individuals and associated with craniofacial, ocular, auditory, musculoskeletal complications.Prophylactic retinopexy treatment reduces the risk of retinal detachment, emphasising need for early detection multidisciplinary referral.This study evaluated knowledge awareness among allied health professionals their perceived needs targeted education to improve care.Methods: A cross-sectional survey was...
Purine-rich element-binding protein alpha (PURA) regulates gene expression and is ubiquitously expressed with an enrichment in neural tissues. Pathogenic variants
Abstract Germline de novo SETBP1 variants cause clinically distinct and heterogeneous neurodevelopmental disorders. Heterozygous missense at a hotspot encoding canonical degron lead to accumulation Schinzel-Giedion syndrome (SGS), rare severe developmental disorder involving multisystem malformations. loss-of-function result in haploinsufficiency which is phenotypically much milder than SGS. Following an initial description of four individuals with atypical SGS carrying heterozygous adjacent...
Background The first studies on patients with forkhead-box protein P1 (FOXP1) syndrome reported associated global neurodevelopmental delay, autism symptomatology, dysmorphic features and cardiac urogenital malformations. aim of this study was to assess the prevalence congenital abnormalities in an unbiased cohort FOXP1 document rare complications. Methods Patients were included, mostly diagnosed via whole-exome sequencing for delay. A parent-report questionnaire used medical signs symptoms,...
Abstract Childhood apraxia of speech (CAS), the prototypic severe childhood disorder, is characterized by motor programming and planning deficits. Genetic factors make substantive contributions to CAS aetiology, with a monogenic pathogenic variant identified in third cases, implicating around 20 single genes date. Here we ascertained 70 unrelated probands clinical diagnosis performed trio genome sequencing. Our bioinformatic analysis examined nucleotide, indel, copy number, structural short...
Pathogenic variants in
Abstract Background Heterozygous disruptions of FOXP2 were the first identified molecular cause for severe speech disorder; childhood apraxia (CAS), yet few cases have been reported, limiting knowledge condition. Methods Here we phenotyped 29 individuals from 18 families with pathogenic -only variants (13 loss-of-function, 5 missense variants; 14 males; aged 2 years to 62 years). Health and development (cognitive, motor, social domains) was examined, including language outcomes...