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Introduction : Fragile X syndrome (FXS) is the leading cause of inherited intellectual disability and is usually caused by a CGG expansion in the FMR1 gene and the associated epigenetic silencing. Recent studies have shown that FMR1... more
Introduction : Fragile X syndrome (FXS) is the leading cause of inherited intellectual disability and is usually caused by a CGG expansion in the FMR1 gene and the associated epigenetic silencing. Recent studies have shown that FMR1 intron 1 methylation is significantly associated with verbal cognitive impairment in adults, but this has not been shown in children. Furthermore, variation in FMR1 intron 1 methylation between blood, saliva and buccal samples has not been previously described. Methods: A cohort of 40 children carrier of FMR1 expanded alleles, depending on their age, were administered either The Mullen Scale of Early Learning, the Wechsler Preschool and Primary Scale of Intelligence III edition or The Wechsler Intelligence Scale for Children IV edition. Molecular parameters included CGGs repeats size and FMR1 Intron 1 methylation in venous blood, saliva and buccal swabs samples. Results: Preliminary analysis of 10 participants has shown a significant correlation between FMR1 intron 1 methylation in blood, saliva and buccal samples and overall cognitive functioning (p<.ooo1). There was no significant difference in methylation of this region between tissue types. Discussion: FMR1 Intron 1 methylation can be analyzed in saliva and/or buccal swabs samples as a non-invasive alternative to venous blood for diagnosis of FXS. The pending analysis of the entire cohort with additional clinical data aims to unravel the potential prognostic applications of these biomarkers for the type and severity of neurodevelopmental impairments in FXS children.
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Sera from 17 patients with infectious mononucleosis reacted with fine cytoplasmic fibrils in monolayer cultures of fibroblasts. In cells pre-treated with vinblastine, the sera reacted with peri- or juxta-nuclear coils of filaments. These... more
Sera from 17 patients with infectious mononucleosis reacted with fine cytoplasmic fibrils in monolayer cultures of fibroblasts. In cells pre-treated with vinblastine, the sera reacted with peri- or juxta-nuclear coils of filaments. These staining patterns were similar to those obtained by anti-intermediate filament autoantibody but different from the "actin-cables" stained by anti-actin autoantibody and from the "tubulin paracrystals" stained by anti-microtubule autoantibody. The autoantibodies belonged to the IgM class and ranged in titre from 1 : 16 to 1:512 (mean 1:64). A change in antibody titre was noted in sequential acute and convalescent sera. The results show that IgM autoantibodies to intermediate filaments occur frequently in sera from patients with infectious mononucleosis.
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Purpose: To investigate the prevalence of specific reading disability in children with functional amblyopia and to explore the relationship between the two. Methods: In this prospective study, 20 consecutive children, aged 6 to 15 years... more
Purpose: To investigate the prevalence of specific reading disability in children with functional amblyopia and to explore the relationship between the two. Methods: In this prospective study, 20 consecutive children, aged 6 to 15 years (mean 8 +/-1.99 years), and diagnosed with amblyopia underwent a vision and reading assessment. The orthoptic examination included the assessment of participants' visual acuity, ocular motility and binocular functions. Specific reading disability was diagnosed using the Wide Range Achievement Test (WRAT III Reading Subtest). Intelligence, phonological awareness, rapid automatized naming (RAN), and the ability to read pseudo or nonsense words was also assessed using various psycho-linguistic reading tests. Results: The prevalence of specific reading disability in this small series of amblyopic children was found to be 5% (n=1/20). This was even less than that reported in the local Victoria general population (16%). The type of amblyopia appeared related to phonological awareness (p=0.018) and decoding words (p=0.024), those with anisometropic amblyopia performing significantly better on these tasks than the strabismic amblyopes. The presence of binocular vision functions was also related to decoding words; those with binocular single vision performed better than those with suppression and lacking single binocular vision (p=0.007). Generally, amblyopic children also showed a lower RAN score when compared to phonological awareness score. There was no statistically significant difference for the severity of amblyopia (p=>0.05). Conclusions: In this very small pilot series, reading disorders were relatively rare in children with amblyopia. However, strabismic amblyopia and presence of suppression may have an adverse effect on phonological skills. In addition, amblyopia may be associated with a deficit in RAN. Further research is needed and planned to gain a better understanding about the relationship between amblyopia and reading ability.
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An ELISA was developed to test for IgG autoantibody to rabbit skeletal muscle G-actin in liver disease. To express results of the ELISA, we used a single reference serum with known high anti-actin activity, and assessed binding of test... more
An ELISA was developed to test for IgG autoantibody to rabbit skeletal muscle G-actin in liver disease. To express results of the ELISA, we used a single reference serum with known high anti-actin activity, and assessed binding of test sera as a percentage of that displayed by the reference antiserum. Antibody to G-actin was measured in 40 sera from patients with chronic active hepatitis (CAH), 39 from acute viral hepatitis A (Hep A), 46 from acute viral hepatitis B (Hep B), 23 from non-A, non-B hepatitis (Hep non-A, non-B), 31 from systemic lupus erythematosus (SLE), 21 from scleroderma and 93 from normal persons. The results were compared with those obtained using indirect immunofluorescence tests with frozen sections of rodent stomach or fibroblast monolayers as substrates. Anti-G-actin activity of serum was significantly higher (P less than 0.001) in CAH (mean 63% +/- 23, range 18-110) than in controls (mean 15% +/- 12, range 0-51), systemic lupus erythematosus (mean 25% +/- 16, range 8-76), scleroderma (mean 23% +/- 13, range 3-59), Hep A (mean 24% +/- 11, range 6-25), Hep B (17% +/- 8, range 2-36), or Hep non-A, non-B (mean 23% +/- 11, range 7-53). There was no significant difference (P greater than 0.05) in the occurrence of anti-G-actin activity of serum in Hep A, Hep B or non-A, non-B compared with controls. At an ELISA reading of greater than or equal to 40% (mean + 2 s.d. of controls) the assay detected autoantibodies to G-actin in 85% of CAH, compared to 80% on fibroblast monolayers and 70% on rodent stomach. The ELISA described in the present study is a simple, sensitive and quantitative assay for autoantibody to G-actin. It should prove useful in assessing subspecificities of actin antibodies in liver diseases, and in differential diagnosis, particularly CAH from acute viral hepatitis.
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Abstract We examined the lived experiences of twelve parents of low-progress readers. Parents were recruited from five state schools in Melbourne and each participated in individual interviews. Analyses revealed that most children... more
Abstract We examined the lived experiences of twelve parents of low-progress readers. Parents were recruited from five state schools in Melbourne and each participated in individual interviews. Analyses revealed that most children received Reading Recovery which was the first and often only option. Parents were divided regarding satisfaction with their children’s reading outcomes following this program. Sources of dissatisfaction included: a waiting list for commencement of intervention, the sudden cessation of Reading Recovery based on the 100-session limit, and Reading Recovery’s theoretical orientation towards constructivist principles. Half the parents independently sought external reading intervention from conventional and non-conventional service providers. Moreover, many parents encountered a personal toll related to their children’s reading difficulty. This study highlights the needs of parents who are important stakeholders in the management of low-progress readers. Our findings call for a more systematic, integrated and mindful approach between educators, policy makers and parents of low-progress readers.
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The paper reports on a study designed to develop a risk model that can best predict single-word spelling in seven-year-old children when they were aged 4 and 5. Test measures, personal characteristics and environmental influences were all... more
The paper reports on a study designed to develop a risk model that can best predict single-word spelling in seven-year-old children when they were aged 4 and 5. Test measures, personal characteristics and environmental influences were all considered as variables from a community sample of 971 children. Strong concurrent correlations were found between single-word spelling and single-word reading while expressive language and, to a lesser extent, receptive language were less strongly correlated. Predictors of single-word spelling at ages 4 and 5 were dominated by child-related factors such as letter knowledge, a history of speech impairment and expressive language along with maternal word reading ability. Based on the strength of the predictive factors identified at both age 4 and 5, our results provide initial support for using a targeted model for screening pre-schoolers at risk of not mastering spelling in a timely manner.
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Research Interests: Psychology, Clinical Psychology, Psychiatry, Social Sciences, Anxiety Disorders, and 14 moreDepression, Health, Medicine, Prevention, Translation, Cost effectiveness, Child Anxiety Disorders, Randomised Controlled Trial, Clinical Sciences, Strengths, Science Technology, Interventions, Universal, and Life Sciences & Biomedicine
Additional file 1. Note S1–S4 and Table S1–S15 Clinical Phenotype of FXS.
All in-text references underlined in blue are linked to publications on ResearchGate, letting you access and read them immediately.
Table S1. Age-equivalent (months) descriptive statistics on the MSEL subscales for AS participants. (DOCX 16 kb)
Table S1. Comparison between males and females intellectual functioning (standard) scores. Table S2. Comparison between FM-only males with complete and incomplete FMR1 mRNA silencing on intellectual functioning (corrected) scores and... more
Table S1. Comparison between males and females intellectual functioning (standard) scores. Table S2. Comparison between FM-only males with complete and incomplete FMR1 mRNA silencing on intellectual functioning (corrected) scores and autism features. Table S3. Relationship between intellectual functioning (standard) scores and FMR1 mRNA in males and females. Table S4. Relationship between intellectual functioning scores (corrected) and FMR1 mRNA in males and females with WISC-III (Chile) and MSEL removed. Table S5. Relationship between intellectual functioning (standard) scores with FMR1 mRNA in FM-only males with incomplete FMR1 mRNA silencing and PM/FM mosaic males. (DOCX 27 kb)
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BACKGROUND Public health advocates have highlighted internalising problems as a leading cause of global burden of disease. Internalising problems (anxiety/depression) affect up to 20% of school-age children and can impact peer relations,... more
BACKGROUND Public health advocates have highlighted internalising problems as a leading cause of global burden of disease. Internalising problems (anxiety/depression) affect up to 20% of school-age children and can impact peer relations, school engagement and later employment and mortality. This translational trial aimed to determine whether a selective/indicated parenting group programme to prevent internalising distress in shy/inhibited preschool children had sustained effects in middle childhood. Translational design aspects were a brief parent-report screening tool for child inhibition offered universally across the population via preschools in the year before school, followed by an invitation to parents of all inhibited children to attend the parenting programme at venues in their local community. METHODS Design of the study was a randomised controlled trial. The setting was 307 preschool services across eight socioeconomically diverse government areas in Melbourne, Australia. Participants were 545 parents of inhibited four-year-old children of which 456 (84%) were retained during middle childhood (age of seven to 10 years). Early intervention was the Cool Little Kids parenting group programme, and control was 'usual care' access to available support services in the community. Primary outcomes were child anxiety and depression symptoms (parent and child report) and DSM-IV anxiety disorders (assessor masked). Secondary outcomes were parenting practices and parent mental health. RESULTS There was no significant difference in anxiety disorders between the intervention and control group during the three annual follow-ups of the cohort in middle childhood (2015 43% vs. 41%, 2016 40% vs. 36%, 2017 27% vs. 30%, respectively; p's > .05). There were also no significant differences in child anxiety or depression symptoms (by child or parent report), parenting practices or parent mental health, between the intervention and control group during middle childhood. However, a priori interaction tests suggested that for children with anxious parents, early intervention attenuated risk for middle childhood internalising problems. CONCLUSIONS An issue for population translation is low levels of parent engagement in preventive interventions. Initial effects of the Cool Little Kids parenting group programme in reducing shy/inhibited preschool children's internalising distress at school entry dissipated over time, perhaps due to low engagement. Future translational research on early prevention of internalising problems could benefit from screening preschool children in the population at higher risk (combining temperamental inhibition and parent distress) and incorporating motivational techniques to facilitate family engagement. Trial registration ISRCTN30996662 http://www.isrctn.com/ISRCTN30996662.
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OBJECTIVES: To examine the contribution of early life factors and preschool- and school-aged language abilities to children’s 11-year language and academic outcomes. METHODS: Participants (N = 839) were from a prospective community cohort... more
OBJECTIVES: To examine the contribution of early life factors and preschool- and school-aged language abilities to children’s 11-year language and academic outcomes. METHODS: Participants (N = 839) were from a prospective community cohort study of 1910 infants recruited at 8 to 10 months of age. Early life factors included a combination of child (prematurity, birth weight), family (socioeconomic disadvantage, family history of language difficulties), and maternal factors (education, vocabulary, and age). Language (standardized assessment of receptive and expressive skills) and academic (national assessment) outcomes at 11 years were predicted by using a series of multivariable regression models. RESULTS: Early life factors explained 11% to 12% of variance in language scores at 11 years. The variance explained increased to 47% to 64% when language scores from 2 to 7 years were included. The largest increase in variance explained was with 4-year language scores. The same early life fa...
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Research Interests: Genetics, Psychology, Autism, Intellectual Disability, Medicine, and 2 moreFragile X Syndrome and FMR(Fragile X Syndrome and FMR)
(Fragile X Syndrome and FMR)
CGG repeat expansion >200 within FMR1, termed full mutation (FM), has been associated with promoter methylation, consequent silencing of gene expression and fragile X syndrome (FXS)-a common cause of intellectual disability and... more
CGG repeat expansion >200 within FMR1, termed full mutation (FM), has been associated with promoter methylation, consequent silencing of gene expression and fragile X syndrome (FXS)-a common cause of intellectual disability and co-morbid autism. Unmethylated premutation (55-199 repeats) and FM alleles have been associated with fragile X related tremor/ataxia syndrome (FXTAS), a late onset neurodegenerative disorder. Here we present a 33-year-old male with FXS, with white matter changes and progressive deterioration in gait with cerebellar signs consistent with probable FXTAS; there was no evidence of any other cerebellar pathology. We show that he has tissue mosaicism in blood, saliva, and buccal samples for the size and methylation of his expanded alleles and a de novo, unmethylated microdeletion. This microdeletion involves a ∼80 bp sequence in the FMR1 promoter as well as complete loss of the CGG repeat in a proportion of cells. Despite FMR1 mRNA levels in blood within the nor...
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Purpose The evidence of a deficit in working memory in specific language impairment (SLI) is of sufficient magnitude to suggest a primary role in developmental language disorder. However, little research has investigated memory in late... more
Purpose The evidence of a deficit in working memory in specific language impairment (SLI) is of sufficient magnitude to suggest a primary role in developmental language disorder. However, little research has investigated memory in late talkers who recover from their early delay. Drawing on a longitudinal, community sample, this study compared the memory profiles of 3 groups of 5-year-olds: children with SLI who had been identified as late talkers, resolved late talkers (RLTs), and children with typical language development (TLD). Method Participants were 25 children with SLI, 45 RLTs, and 32 children with TLD. Subtests from the Working Memory Test Battery for Children and the Children’s Memory Scale plus recalling sentences and nonword repetition tasks were administered to test the components of Baddeley’s working memory model. Results The SLI group showed significantly poorer performance than the RLT and TLD groups on measures of the phonological loop and episodic buffer. The RLT a...
Research Interests: Cognitive Science, Phonetics, Multilingualism, Individuality, Language Development, and 15 moreLinguistics, Language, Medicine, Memory, Humans, Child, Female, Male, Clinical Sciences, Longitudinal Studies, Child Language, Child preschool, Language Development Disorders, Medical and Health Sciences, and Language tests
As researchers, psychologists, linguists and educators who have studied the processes underlying the development of reading, and who are familiar with the scientific research literature relating to the acquisition of reading, we are... more
As researchers, psychologists, linguists and educators who have studied the processes underlying the development of reading, and who are familiar with the scientific research literature relating to the acquisition of reading, we are writing to you to express our ...
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Children; Language development; Language impairment The importance of identifying children at risk for language delay can result in appropriate early intervention. Previous research has suggested that predictors for language delay can be... more
Children; Language development; Language impairment The importance of identifying children at risk for language delay can result in appropriate early intervention. Previous research has suggested that predictors for language delay can be identified in the first year (eg, Smith, 1998), and that gesture use is a good predictor of later language (Thal, Tobias & Morrison, 1991). Late talkers are at risk for language impairment; however, while some late talkers identified at age 2 are impaired in language at age 4, not all
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Fragile X syndrome (FXS) is caused by a hypermethylated full mutation (FM) expansion with ≥ 200 CGG repeats, and a decrease in FMR1 mRNA and its protein. However, incomplete silencing from FM alleles has been associated with more severe... more
Fragile X syndrome (FXS) is caused by a hypermethylated full mutation (FM) expansion with ≥ 200 CGG repeats, and a decrease in FMR1 mRNA and its protein. However, incomplete silencing from FM alleles has been associated with more severe autism features in FXS males. This study compared scores on the Aberrant Behavior Checklist-Community-FXS version (ABC-CFX) in 62 males affected with FXS (3 to 32 years) stratified based on presence or absence of mosaicism and/or FMR1 mRNA silencing. Associations between ABC-CFX subscales and FMR1 mRNA levels, assessed using real-time PCR relative standard curve method, were also examined. The FXS group mosaic for premutation (PM: 55–199 CGGs) and FM alleles had lower irritability (p = 0.014) and inappropriate speech (p
Fragile X syndrome (FXS) is a leading single-gene cause of intellectual disability (ID) with autism features. This study analysed diagnostic and prognostic utility of the Fragile X-Related Epigenetic Element 2 DNA methylation (FREE2m)... more
Fragile X syndrome (FXS) is a leading single-gene cause of intellectual disability (ID) with autism features. This study analysed diagnostic and prognostic utility of the Fragile X-Related Epigenetic Element 2 DNA methylation (FREE2m) assessed by Methylation Specific-Quantitative Melt Analysis and the EpiTYPER system, in retrospectively retrieved newborn blood spots (NBS) and newly created dried blood spots (DBS) from 65 children with FXS (~2–17 years). A further 168 NBS from infants from the general population were used to establish control reference ranges, in both sexes. FREE2m analysis showed sensitivity and specificity approaching 100%. In FXS males, NBS FREE2m strongly correlated with intellectual functioning and autism features, however associations were not as strong for FXS females. Fragile X mental retardation 1 gene (FMR1) mRNA levels in blood were correlated with FREE2m in both NBS and DBS, for both sexes. In females, DNAm was significantly increased at birth with a decr...
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Background Fragile X syndrome (FXS) is a common cause of intellectual disability and autism spectrum disorder (ASD) usually associated with a CGG expansion, termed full mutation (FM: CGG ≥ 200), increased DNA methylation of the FMR1... more
Background Fragile X syndrome (FXS) is a common cause of intellectual disability and autism spectrum disorder (ASD) usually associated with a CGG expansion, termed full mutation (FM: CGG ≥ 200), increased DNA methylation of the FMR1 promoter and silencing of the gene. Mosaicism for presence of cells with either methylated FM or smaller unmethylated pre-mutation (PM: CGG 55–199) alleles in the same individual have been associated with better cognitive functioning. This study compares age- and sex-matched FM-only and PM/FM mosaic individuals on intellectual functioning, ASD features and maladaptive behaviours. Methods This study comprised a large international cohort of 126 male and female participants with FXS (aged 1.15 to 43.17 years) separated into FM-only and PM/FM mosaic groups (90 males, 77.8% FM-only; 36 females, 77.8% FM-only). Intellectual functioning was assessed with age appropriate developmental or intelligence tests. The Autism Diagnostic Observation Schedule-2nd Edition...
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Although fragile X syndrome (FXS) is caused by a hypermethylated full mutation (FM) expansion with ≥200 cytosine-guanine-guanine (CGG) repeats, and a decrease in FMR1 mRNA and its protein (FMRP), incomplete silencing has been associated... more
Although fragile X syndrome (FXS) is caused by a hypermethylated full mutation (FM) expansion with ≥200 cytosine-guanine-guanine (CGG) repeats, and a decrease in FMR1 mRNA and its protein (FMRP), incomplete silencing has been associated with more severe autism features in FXS males. This study reports on brothers (B1 and B2), aged 5 and 2 years, with autistic features and language delay, but a higher non-verbal IQ in comparison to typical FXS. CGG sizing using AmplideX PCR only identified premutation (PM: 55–199 CGGs) alleles in blood. Similarly, follow-up in B1 only revealed PM alleles in saliva and skin fibroblasts; whereas, an FM expansion was detected in both saliva and buccal DNA of B2. While Southern blot analysis of blood detected an unmethylated FM, methylation analysis with a more sensitive methodology showed that B1 had partially methylated PM alleles in blood and fibroblasts, which were completely unmethylated in buccal and saliva cells. In contrast, B2 was partially meth...
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Variations in parenting, more specifically less responsive and more directive parenting, contribute to language difficulties for children experiencing adversity. Further investigation of associations between specific responsive and... more
Variations in parenting, more specifically less responsive and more directive parenting, contribute to language difficulties for children experiencing adversity. Further investigation of associations between specific responsive and directive behaviours and child language is required to understand how behaviours shape language over time within different populations. As language is dyadic, further exploration of how mother-child interactions moderate associations is also important. To investigate associations between specific responsive and directive maternal behaviours, the quality of mother-child interaction (fluency and connectedness) and child language in a cohort experiencing adversity. Pregnant women experiencing adversity were recruited from maternity hospitals in Australia. At 12 months, videos of mother-infant free play were collected. Videos were coded for maternal behaviours and fluency and connectedness (n = 249). At 36 months, child language was measured using a standardized language test. Linear regression models were used to examine associations and the moderating role of fluency and connectedness was explored. Responsive yes/no questions were positively associated with language scores. Unsuccessful redirectives were negatively associated with language scores. The moderation effect of fluency and connectedness was equivocal in the current data. Findings reproduce and extend previous research highlighting key features of mother-child interactions associated with child language trajectories. Findings also augment knowledge of risk and protective factors related to language for children experiencing adversity and highlight where targeted interventions might be successful.
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Prader-Willi syndrome (PWS) and Angelman syndrome (AS) are neurodevelopmental disorders that are caused by abnormal expression of imprinted genes in the 15q11-13 region. Dysregulation of genes located in this region has been proposed as a... more
Prader-Willi syndrome (PWS) and Angelman syndrome (AS) are neurodevelopmental disorders that are caused by abnormal expression of imprinted genes in the 15q11-13 region. Dysregulation of genes located in this region has been proposed as a susceptibility factor for autism spectrum disorder (ASD) in both disorders. This study aimed to explore symptoms of ASD in 25 PWS and 19 AS individuals aged between 1 and 39 years via objective assessment. Participants completed the Autism Diagnostic Observation Schedule-2nd Edition (ADOS-2) and a developmentally or age-appropriate intellectual functioning assessment. All participants had their genetic diagnosis confirmed using DNA methylation analysis and microarray testing of copy number changes within the 15q11-13 region. Participants with PWS had significantly higher overall and social affect calibrated severity scores (CSS) on the ADOS-2 compared to AS participants (p = .0055 and .0015, respectively), but the two groups did not differ signific...
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Increased intragenic DNA methylation of the Fragile X Related Epigenetic Element 2 (FREE2) in blood has been correlated with lower intellectual functioning in females with fragile X syndrome (FXS). This study explored these relationships... more
Increased intragenic DNA methylation of the Fragile X Related Epigenetic Element 2 (FREE2) in blood has been correlated with lower intellectual functioning in females with fragile X syndrome (FXS). This study explored these relationships in a paediatric cohort of males with FXS using Buccal Epithelial Cells (BEC). BEC were collected from 25 males with FXS, aged 3 to 17 years and 19 age-matched male controls without FXS. Methylation of 9 CpG sites within the FREE2 region was examined using the EpiTYPER approach. Full Scale IQ (FSIQ) scores of males with FXS were corrected for floor effect using the Whitaker and Gordon (WG) extrapolation method. Compared to controls, children with FXS had significant higher methylation levels for all CpG sites examined (p < 3.3 × 10), and within the FXS group, lower FSIQ (WG corrected) was associated with higher levels of DNA methylation, with the strongest relationship found for CpG sites within FMR1 intron 1 (p < 5.6 × 10). Applying the WG met...
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Objective: To determine whether a population-delivered parenting programme assists in preventing internalising problems at school entry for preschool children at-risk with temperamental inhibition. Methods: Design: a randomised controlled... more
Objective: To determine whether a population-delivered parenting programme assists in preventing internalising problems at school entry for preschool children at-risk with temperamental inhibition. Methods: Design: a randomised controlled trial was used. Setting: the setting was 307 preschool services across eight socioeconomically diverse government areas in Melbourne, Australia. Participants: a total of 545 parents of inhibited 4-year-old children: 498 retained at 1-year follow up. Early intervention: Cool Little Kids parenting group programme was implemented. Primary outcomes: the primary outcomes were child DSM-IV anxiety disorders (assessor blind) and internalising problems. Secondary outcomes: the secondary outcomes were parenting practices and parent mental health. Results: At 1-year follow up (mean (standard deviation) age = 5.8 (0.4) years), there was little difference in anxiety disorders between the intervention and control arms (44.2% vs 50.2%; adjusted odds ratio = 0.86...
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To examine at 7 years the language abilities of children, the salience of early life factors and language scores as predictors of language outcome, and co-occurring difficulties METHODS: A longitudinal cohort study of 1910 infants... more
To examine at 7 years the language abilities of children, the salience of early life factors and language scores as predictors of language outcome, and co-occurring difficulties METHODS: A longitudinal cohort study of 1910 infants recruited at age 8 to 10 months. Exposures included early life factors (sex, prematurity, birth weight/order, twin birth, socioeconomic status, non-English speaking background,family history of speech/language difficulties); maternal factors (mental health, vocabulary, education, and age); and child language ability at 2 and 4 years. Outcomes were 7-year standardized receptive or expressive language scores (low language: ≥1.25 SD below the mean), and co-occurring difficulties (autism, literacy, social, emotional, and behavioral adjustment, and health-related quality of life). Almost 19% of children (22/1204;18.9%) met criteria for low language at 7 years. Early life factors explained 9-13% of variation in language scores, increasing to 39-58% when child la...
Research Interests: Pediatrics, Literacy, Australia, Quality of life, Language Development, and 15 moreHumans, Child, Female, Mothers, Birth Order, Longitudinal Studies, Educational Status, Intelligence tests, Logistic Models, Cohort Studies, Child preschool, Child behavior disorders, Psychology and Cognitive Sciences, Language Development Disorders, and Medical and Health Sciences
To examine (1) the patterns of service use and costs associated with language impairment in a community cohort of children from ages 4-9 years and (2) the relationship between language impairment and health service utilisation.... more
To examine (1) the patterns of service use and costs associated with language impairment in a community cohort of children from ages 4-9 years and (2) the relationship between language impairment and health service utilisation. Participants were children and caregivers of six local government areas in Melbourne participating in the community-based Early Language in Victoria Study (ELVS). Health service use was reported by parents. Costs were valued in Australian dollars in 2014, from the government and family perspectives. Depending on age, the Australian adapted Clinical Evaluation of Language Fundamentals - Pre-school, 2nd Edition (CELF-P2) or the CELF, 4th Edition (CELF4) was used to assess expressive and receptive language. At 5, 7 and 9 years respectively 21%, 11% and 8% of families reported using services for speech and/or language concerns. The annual costs associated with using services averaged A$612 (A$255 to government, A$357 to family) at 5 years and A$992 (A$317 to government, A$675 to family) at 7 years. Children with persistent language impairment had significantly higher service costs than those with typical language. Language impairment in 4-9-year-old children is associated with higher use of services and costs to both families and government compared to typical language.
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Purpose: To investigate the prevalence of specific reading disability in children with functional amblyopia and to explore the relationship between the two. Methods: In this prospective study, 20 consecutive children, aged 6 to 15 years... more
Purpose: To investigate the prevalence of specific reading disability in children with functional amblyopia and to explore the relationship between the two. Methods: In this prospective study, 20 consecutive children, aged 6 to 15 years (mean 8 +/-1.99 years), and diagnosed with amblyopia underwent a vision and reading assessment. The orthoptic examination included the assessment of participants' visual acuity, ocular motility and binocular functions. Specific reading disability was diagnosed using the Wide Range Achievement Test (WRAT III Reading Subtest). Intelligence, phonological awareness, rapid automatized naming (RAN), and the ability to read pseudo or nonsense words was also assessed using various psycho-linguistic reading tests. Results: The prevalence of specific reading disability in this small series of amblyopic children was found to be 5% (n=1/20). This was even less than that reported in the local Victoria general population (16%). The type of amblyopia appeared related to phonological awareness (p=0.018) and decoding words (p=0.024), those with anisometropic amblyopia performing significantly better on these tasks than the strabismic amblyopes. The presence of binocular vision functions was also related to decoding words; those with binocular single vision performed better than those with suppression and lacking single binocular vision (p=0.007). Generally, amblyopic children also showed a lower RAN score when compared to phonological awareness score. There was no statistically significant difference for the severity of amblyopia (p=>0.05). Conclusions: In this very small pilot series, reading disorders were relatively rare in children with amblyopia. However, strabismic amblyopia and presence of suppression may have an adverse effect on phonological skills. In addition, amblyopia may be associated with a deficit in RAN. Further research is needed and planned to gain a better understanding about the relationship between amblyopia and reading ability.