ORCID Profile
0000-0002-2315-7698
Current Organisations
The University of Edinburgh
,
Western Sydney University
,
University of Sydney
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Publisher: BMJ
Date: 12-2022
DOI: 10.1136/BMJOPEN-2021-060306
Abstract: Preliminary evidence suggests that progressive resistance training may be beneficial for people with Prader-Willi Syndrome (PWS), a rare genetic condition that results in muscle weakness and low muscle tone.To establish whether community-based progressive resistance training is effective in improving the muscle strength of people with PWS to determine cost-effectiveness and, to complete a process evaluation assessing intervention fidelity, exploring mechanisms of impact, understanding participant experiences and identifying contextual factors affecting implementation. A multisite, randomised controlled trial will be completed. Sixty participants with PWS will be randomised to receive either progressive resistance training (experimental) or non-progressive exercise (placebo control). Participants will be aged 13 to 60 years, be able to follow simple instructions in English and have no contraindications to performing progressive resistance training. The experimental group will complete progressive resistance training two times weekly for 24 weeks supervised by an exercise professional at a community gym. The control group will receive all aspects of the intervention except progressive overload. Outcomes will be assessed at week 25 (primary endpoint) and week 52 by a blinded assessor. The primary outcome is muscle strength assessed using one repetition maximum for upper limb and lower limb. Secondary outcomes are muscle mass, functional strength, physical activity, community participation, health-related quality of life and behaviour. Health economic analysis will evaluate cost-effectiveness. Process evaluation will assess safety and intervention fidelity, investigate mechanism of impact, explore participant experiences and identify contextual factors affecting implementation. Data collection commenced in February 2020 and will conclude in September 2023. Ethical approval was obtained from The Royal Children’s Hospital Human Research Ethics Committee (HREC/50874/RCHM-2019) under the National Mutual Acceptance initiative. Research governance approvals were obtained from five clinical sites. Results will be disseminated through published manuscripts, conference presentations, public seminars and practical resources for stakeholder groups. ACTRN12620000416998 Australian and New Zealand Clinical Trial Registry.
Publisher: Wiley
Date: 30-06-2014
DOI: 10.1002/AJMG.A.36653
Abstract: In iduals with Prader-Willi syndrome (PWS) have a significant reduction in the number of oxytocin-producing neurons (42%) in the hypothalamic paraventricular nucleus. A number of animal studies and observations of humans show that lesions in this region can produce PWS-like symptoms. Given the evidence for potential oxytocin deficiency, we tested the effects of a course of intranasal oxytocin on PWS symptoms. Thirty in iduals with PWS aged 12-30 years participated in an 18-week randomized double-blind placebo-controlled crossover trial. Participants received 8 weeks of oxytocin and 8 weeks of placebo with a minimum 2-week washout period. The first 11 participants received the following oxytocin doses: 24 IU (twice daily) B.I.D for participants 16 years and over and 18 IU B.I.D for participants 13-15 years. The dose was increased for the remaining 18 participants to 40 IU B.I.D for participants 16 years and over and 32 IU B.I.D for 13-15 years. Measures used to assess changes were standardized well-accepted measures, including the Developmental Behavior Checklist-Monitor, Parent, Teacher, and Adult The Yale-Brown Obsessive Compulsive Scale The Dykens Hyperphagia questionnaire Reading The Mind in the Eyes Test Epworth Sleepiness Scale and the Movie Stills. Oxytocin had little impact on any measure. The only significant difference found between the baseline, oxytocin, and placebo measures was an increase in temper outbursts (P = 0.023) with higher dose oxytocin. The lack of effect of oxytocin nasal spray may reflect the importance of endogenous release of oxytocin in response to exogenous oxytocin.
Publisher: Ovid Technologies (Wolters Kluwer Health)
Date: 03-2015
Publisher: Springer Science and Business Media LLC
Date: 03-03-2023
DOI: 10.1007/S00787-023-02169-W
Abstract: A better understanding of the endocannabinoid system and a relaxation in regulatory control of cannabis globally has increased interest in the medicinal use of cannabinoid-based products (CBP). We provide a systematic review of the rationale and current clinical trial evidence for CBP in the treatment of neuropsychiatric and neurodevelopmental disorders in children and adolescents. A systematic search of MEDLINE, Embase, PsycINFO, and the Cochrane Central Register of Trials was performed to identify articles published after 1980 about CBP for medical purposes in in iduals aged 18 years or younger with selected neuropsychiatric or neurodevelopmental conditions. Risk of bias and quality of evidence was assessed for each article. Of 4466 articles screened, 18 were eligible for inclusion, addressing eight conditions (anxiety disorders ( n = 1) autism spectrum disorder ( n = 5) foetal alcohol spectrum disorder ( n = 1) fragile X syndrome ( n = 2) intellectual disability ( n = 1) mood disorders ( n = 2) post-traumatic stress disorder ( n = 3) and Tourette syndrome ( n = 3)). Only one randomised controlled trial (RCT) was identified. The remaining seventeen articles included one open-label trial, three uncontrolled before-and-after trials, two case series and 11 case reports, thus the risk of bias was high. Despite growing community and scientific interest, our systematic review identified limited and generally poor-quality evidence for the efficacy of CBP in neuropsychiatric and neurodevelopmental disorders in children and adolescents. Large rigorous RCTs are required to inform clinical care. In the meantime, clinicians must balance patient expectations with the limited evidence available.
Publisher: BMJ
Date: 04-2021
DOI: 10.1136/BMJOPEN-2020-045497
Abstract: Many children affected by Fetal Alcohol Spectrum Disorder (FASD) exhibit neurocognitive delays that contribute to secondary consequences, including a disrupted school experience. Educators often have limited knowledge or experience in the identification, referral, management and accommodation of students with FASD. Effective resources and tools for educators are crucial to ensure these students are supported in their ongoing learning, development and school participation. This scoping review aims to identify and evaluate resources for educators that aid in the identification, management, or accommodation of students with FASD. A search will be conducted in 9 peer-reviewed and 11 grey literature databases, Google search engine, two app stores and two podcast streaming services (planned search dates: November 2020 to February 2021). Relevant experts, including researchers, health professionals and in iduals with lived experience of FASD, will be contacted in February and March 2021 to identify additional (including unpublished) resources. Resources will be selected based on registered, prespecified inclusion–exclusion criteria, and the quality of included resources will be critically appraised using a composite tool based on adaptions of the National Health and Medical Research Council FORM Framework and the iCAHE Guideline Quality Checklist. Relevant experts will also be requested to provide feedback on included resources. Ethical approval for this scoping review was obtained from the University of Sydney Human Research Ethics Committee (2020/825). Results of the review will be disseminated through a peer-reviewed publication, conference presentations, and seminars targeting audiences involved in the education sector. Open Science Framework: osf.io/73pjh.
Publisher: Wiley
Date: 23-08-2017
DOI: 10.1002/AJMG.C.31572
Abstract: Prader-Willi Syndrome (PWS) is a genetic disorder characterized by infantile hypotonia, hyperphagia, hypogonadism, growth hormone deficiency, intellectual disability, and severe emotional and behavioral problems. The brain mechanisms that underpin these disturbances are unknown. Diffusion tensor imaging (DTI) enables in vivo investigation of the microstructural integrity of white matter pathways. To date, only one study has used DTI to examine white matter alterations in PWS. However, that study used selected regions of interest, rather than a whole brain analysis. In the present study, we used diffusion tensor and magnetic resonance (T 1-weighted) imaging to examine microstructural white matter changes in 15 in iduals with PWS (17-30 years) and 15 age-and-gender-matched controls. Whole-brain voxel-wise statistical analysis of FA was carried out using tract-based spatial statistics (TBSS). Significantly decreased fractional anisotropy was found localized to the left hemisphere in in iduals with PWS within the splenium of the corpus callosum, the internal capsule including the posterior thalamic radiation and the inferior frontal occipital fasciculus (IFOF). Reduced integrity of these white matter pathways in in iduals with PWS may relate to orientating attention, emotion recognition, semantic processing, and sensorimotor dysfunction.
Publisher: Wiley
Date: 15-05-2015
DOI: 10.1002/AJMG.C.31442
Abstract: The aim of this study was to investigate the developmental trajectories of verbal aggression, physical aggression, and temper tantrums in four genetic syndrome groups. Participants were part of the Australian Child to Adult Development Study (ACAD), which collected information from a cohort of in iduals with an intellectual disability at five time points over 18 years. Data were examined from a total of 248 people with one of the four following syndromes: Down syndrome, Fragile X syndrome, Prader-Willi syndrome, or Williams syndrome. Changes in behaviors were measured using validated items from the Developmental Behavior Checklist (DBC). The results indicate that, while verbal aggression shows no evidence of diminishing with age, physical aggression, and temper tantrums decline with age before 19 years for people with Down syndrome, Fragile X syndrome, and William syndrome and after 19 years for people with Prader-Willi syndrome. These findings offer a somewhat more optimistic outlook for people with an intellectual disability than has previously been suggested. Research is needed to investigate the mechanisms predisposing people with PWS to persistence of temper tantrums and physical aggression into adulthood.
Publisher: BMJ
Date: 09-2022
DOI: 10.1136/BMJOPEN-2022-065327
Abstract: People with fetal alcohol spectrum disorder (FASD) encounter a range of health and allied health providers and require specialised support to ensure health services are provided safely and effectively. Not all health professionals possess the knowledge or expertise required for the identification, assessment, referral and management of FASD. Accessible resources for understanding and managing FASD can help create awareness in health professionals and ensure patients receive the correct diagnosis and timely access to the necessary supports and services. The aim of this scoping review is to identify and analyse FASD resources for health professionals. A comprehensive search of eight databases (MEDLINE, Scopus, PsycINFO, CINAHL, PubMED, EMBASE, Web of Science and Trip Medical Database) and nine grey literature databases (FASD Hub, NOFASD Australia, National Organisation for FASD, FASD United, HealthInfoNet, Proof Alliance, Child Family Community Australia, Foundation for Alcohol Research & Education and the Australian Department of Health websites) will be conducted using three search engines including PubMed, Ovid and Google advanced search (search dates: October 2021 to May 2022). Consultations will also be carried out with international and national experts in the diagnosis/management of FASD to obtain any additional relevant published or unpublished resources. Inclusion criteria were developed to guide the selection of resources that are publicly available, primarily focused on FASD and curated for health professionals for the identification, management or referral of FASD. Critical appraisal process will be executed using the Appraisal of Guidelines for REsearch & Evaluation II (AGREE II) tool to assess the quality of selected resources. Ethical approval is not required for the scoping review. Scoping review results will be presented at relevant national and international conferences and published in peer-reviewed journals. Search results will be made available to ensure reproducibility and transparency.
Publisher: MDPI AG
Date: 06-02-2016
Publisher: Wiley
Date: 13-02-2012
DOI: 10.1111/J.1468-3148.2011.00678.X
Abstract: In low- and middle-income (LAMI) countries, there is a lack of well-trained therapists to provide specialist interventions for children with intellectual disabilities and their families. We sought to identify strategies deliverable by families or non-specialist workers. After searches of appropriate scientific databases, we applied GRADE methodology to rate the quality of evidence for these interventions. We identified small-scale interventions trialled in LAMI countries with limited evidence of effectiveness in supporting development, adaptive behaviour and/or community participation. In high-income countries, the Stepping Stones Triple P program for adaptive behaviour and the Portage program for child development have the most extensive evidence base and may be applicable in LAMI countries. There is reason to hope that, when combined with community development strategies, the welfare of children with intellectual disabilities in LAMI countries can be advanced within those countries' economic means.
Publisher: Wiley
Date: 24-06-2016
DOI: 10.1002/AJMG.B.32472
Abstract: Prader-Willi syndrome (PWS) is characterized by infantile hypotonia, hypogonadism, small hands and feet, distinct facial features and usually intellectual impairment. The disorder is associated with severe behavioral disturbances which include hyperphagia leading to morbid obesity, temper outbursts, skin-picking, and compulsive behaviors. While the brain mechanisms that underpin these disturbances are unknown these behaviors suggest a lack of inhibition and thus gamma-aminobutyric acid (GABA), the main inhibitory neurotransmitter may be implicated. In the present study, we investigated in vivo brain GABA and its relationship with emotion and behavior in in iduals with PWS. Single voxel proton magnetic resonance spectroscopy (1H-MRS) was performed on 15 in iduals with PWS and 15 age- and gender-matched typically developing controls. GABA levels were measured in the parieto-occipital lobe. All other metabolite levels (N-acetyl aspartate, myo-Inositol, glutathione, glutamate, and glutamine + glutamate) were measured in the anterior cingulate cortex (ACC). GABA levels were significantly lower in the participants with PWS who had clinically significant emotional and behavioral problems relative to typically developing control participants and participants with PWS who did not have emotional and behavioral problems within the clinically significant range. GABA levels were negatively correlated with total behavioral problem scores as well as temper outbursts, skin-picking, depression, social relating difficulties, and a tendency to be self-absorbed. Our data suggests that alterations of the GABAergic system may play an important role in aspects of the pathophysiology of PWS. Pathological mechanism found in PWS may be relevant to understanding the control of similar behaviors in the general population. © 2016 Wiley Periodicals, Inc.
Publisher: Wiley
Date: 05-10-2018
DOI: 10.1002/AJMG.A.40480
Abstract: The purpose of this study was to develop a comprehensive understanding of temper outbursts in Prader-Willi syndrome (PWS). A survey was developed from interviews conducted with in iduals with PWS and their caregivers. The survey was completed by 101 primary caregivers. The findings suggest that outburst frequency decreases with age while duration increases. Adolescents exhibited more severe behaviors than children or adults. No differences were found across gender or genetic subtype. Provocations fit into three themes: goal blockage, social injustice, and difficulty dealing with change. Distracting the person or giving them space to calm down were the only management strategies judged effective. Risperidone, sertraline, and fluoxetine were the most common medications prescribed for outbursts, though parents reported only minor effects.
Publisher: BMJ
Date: 04-2022
DOI: 10.1136/BMJOPEN-2021-058111
Abstract: The Lililwan Project was the first Australian population-based prevalence study of fetal alcohol spectrum disorder (FASD) using active case ascertainment. Conducted in 2010–2011, the study included 95% of all eligible children aged 7–9 years living in the very remote Aboriginal communities of the Fitzroy Valley, Western Australia. Women from Marninwarntikura Women’s Resource Centre, a local Aboriginal-led organisation, are concerned that some participants from the study are struggling in adolescence so partnered with researchers from the University of Sydney to follow up the Lililwan cohort in 2020–2022 at age 17–19 years. The overarching aim of the Bigiswun Kid Project is to identify adolescents’ needs and build knowledge to inform services to improve the health and well-being of adolescents in remote Aboriginal communities. The specific aims are to: (1) provide a voice to adolescents and their families to understand the health and well-being status of the Lililwan cohort at 17–19 years. (2) Examine relationships between exposures during pregnancy, birth characteristics, and health and neurodevelopment at 7–9 years, and positive/adverse adolescent outcomes at 17–19 years. This information will identify prenatal and early life factors that predict good health and well-being in adolescence. (3) Determine whether management plans provided in the Lililwan Project were followed, and identify past and present service gaps, support needs and barriers to service use. (4) Determine if key physical characteristics of FASD change between childhood and adolescence in this Aboriginal population. Approved by the Kimberley Aboriginal Health Planning Forum and relevant ethics committees.
Publisher: Informa UK Limited
Date: 30-07-2015
Location: United Kingdom of Great Britain and Northern Ireland
No related grants have been discovered for Lauren Rice.