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Blood flow restriction (BFR) is a commonly used training modality that has been demonstrated to enhance muscle characteristics such as size and function. The purpose of this study was to determine if a 4-week walking program with or without BFR in healthy, active adults has an effect on body composition, anaerobic, and aerobic running performance. Thirty-three participants, randomized among three groups, completed the walking program, which included five sets of 2 min walking intervals with 1 min rest, with or without BFR, or 10 min walking with BFR. Assessments completed before and after the walking program included body composition, 40-yard sprints, and a VO2MAX test on a treadmill. A two-way ANOVA revealed no changes among the groups nor for any variables at any time (p > 0.05). Additionally, one main effect for time indicated the VO2 at V-slope threshold was greater following training for all groups combined (p = 0.001). The results demonstrate that low volume and intensity walking with BFR for 4 weeks did not provide a sufficient stimulus for changing body composition or performance metrics in a group of very active adults. Longer or more isolated exposure of BFR on the limbs may contribute to more pronounced adaptations.
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PURPOSE: It is well documented parents of children who have a disability are at an increased risk of poor mental health and wellbeing. A capacity building program designed to build key worker self-efficacy to support the mental health of parents accessing early childhood intervention services (ECIS) for their child was trialled. MATERIALS AND METHODS: A stepped-wedge cluster randomised trial design was utilised to deliver and evaluate a 12-month intervention program, comprising tailored professional development, resource development and sustainability measures. The repeated measurements on individuals in six clusters over three follow-up periods were analysed using linear mixed models. Comparison of the control and new program statistical means (adjusted for period effects) were assessed with an F test. RESULTS: Key workers reported increased confidence to talk to parents about their own wellbeing (d = 0.51, F(1, 51.8) = 4.28, p = 0.044) and knowledge of parental mental wellbeing improved (p = 0.006). A reduction in staff sick leave partially offset the cost of the intervention. CONCLUSIONS: A multi-pronged intervention targeted at key workers was found to be an effective way to ensure parental wellbeing is supported at an ECIS in Australia. TRIAL REGISTRATION: ACTRN12617001530314Implications for RehabilitationThere are implications for the development of children whose parents are experiencing high stress and poor mental health, whereby parents of children with disability or developmental delays are at increased risk.Findings from this study support the recommendation that a key worker is provided to holistically support families who access Early Childhood Intervention Services to aid in reducing poor parental wellbeing and child outcomes.Improved confidence to support and initiate conversations regarding parental wellbeing by key workers, in combination with support from management and the organisation to undertake this as part of their role, is a positive finding from this intervention study.
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Pais , Autoeficácia , Pré-Escolar , Humanos , Austrália , Intervenção Educacional Precoce , Saúde Mental , Pais/psicologiaRESUMO
PURPOSE: Protein arginine methyltransferase 7 (PRMT7) is a member of a family of enzymes that catalyzes the methylation of arginine residues on several protein substrates. Biallelic pathogenic PRMT7 variants have previously been associated with a syndromic neurodevelopmental disorder characterized by short stature, brachydactyly, intellectual developmental disability, and seizures. To our knowledge, no comprehensive study describes the detailed clinical characteristics of this syndrome. Thus, we aim to delineate the phenotypic spectrum of PRMT7-related disorder. METHODS: We assembled a cohort of 51 affected individuals from 39 different families, gathering clinical information from 36 newly described affected individuals and reviewing data of 15 individuals from the literature. RESULTS: The main clinical characteristics of the PRMT7-related syndrome are short stature, mild to severe developmental delay/intellectual disability, hypotonia, brachydactyly, and distinct facial morphology, including bifrontal narrowing, prominent supraorbital ridges, sparse eyebrows, short nose with full/broad nasal tip, thin upper lip, full and everted lower lip, and a prominent or squared-off jaw. Additional variable findings include seizures, obesity, nonspecific magnetic resonance imaging abnormalities, eye abnormalities (i.e., strabismus or nystagmus), and hearing loss. CONCLUSION: This study further delineates and expands the molecular, phenotypic spectrum and natural history of PRMT7-related syndrome characterized by a neurodevelopmental disorder with skeletal, growth, and endocrine abnormalities.
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Braquidactilia , Nanismo , Deficiência Intelectual , Anormalidades Musculoesqueléticas , Transtornos do Neurodesenvolvimento , Humanos , Transtornos do Neurodesenvolvimento/genética , Deficiência Intelectual/genética , Nanismo/genética , Obesidade/genética , Fenótipo , Proteína-Arginina N-Metiltransferases/genéticaRESUMO
PURPOSE: The presentation and underlying etiology of Cerebral Palsy (CP) in general are heterogenous. Clinical features present differently in pediatric versus adult patient populations. Many metabolic and genetic conditions present with clinical symptoms suggestive of CP. Precision medicine practices are currently a standard of care, and Next-Generation-Sequencing (NGS) tools are used for the purpose of diagnosis and management. We describe the diagnostic yield and impact on management of NGS comparing a cohort of 102 children and 37 adults with CP, referred to two tertiary care centres between 2015 and 2020 (adult cohort) and 2017-2020 (pediatric cohort) respectively. PRINCIPAL RESULTS: In the adult cohort, 28 patients had a positive genetic diagnosis, giving a yield of 75.6%. Their age varied between 18 and 59 years, with a median of 28 years. Out of the positive diagnoses, 12 were consistent with an inborn error of metabolism and in 9 patients (32.1%) some form of treatment or management guideline was recommended. In the pediatric cohort 21 patients had a positive genetic diagnosis and 22 results are still pending, giving a yield of 32.8%. Age at diagnosis ranged between 18 months and 12 years. In 15 patients (71.4%) there was some form of management recommendation. All families benefited from genetic counseling. MAJOR CONCLUSIONS: Given the combined high yield of positive genetic diagnosis in pediatric and adult cases presenting with symptoms of Cerebral Palsy, and the more readily available Next Generation Sequencing testing in major academic centres, we recommend that either a referral to a pediatric or adult neurometabolic centre to be made, or genetic testing to be initiated where this is available.
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Paralisia Cerebral , Humanos , Paralisia Cerebral/diagnóstico , Paralisia Cerebral/genética , Genômica , Sequenciamento de Nucleotídeos em Larga Escala/métodos , Testes Genéticos/métodos , FenótipoRESUMO
The delivery of family-centred practice (FCP) within Early Childhood Intervention Services (ECISs) for young children with a disability or development delay conceptualises that children's learning environments, parenting, family and community supports intersect to have the greatest impact on the developing child. The transdisciplinary key worker model is considered a best-practice approach within ECISs whereby staff work collaboratively across disciplinary boundaries to plan and implement services for children and their families. Research suggests families who have a key worker have better relationships with services, fewer unmet needs, better morale, more information about services, higher parental satisfaction and more parental involvement than those not receiving this service. Using a phenomenological qualitative design this study sought to understand transdisciplinary key workers' perspectives regarding the strengths and challenges to undertaking their role in providing services to children and families accessing an ECIS at a major disability service organisation, in light of the changing policy reform during the roll out of the National Disability Insurance Scheme in Australia. Purposive sampling was used to recruit key workers (n = 13) to participate in semi-structured interviews during 2015. Data were analysed using an inductive, thematic approach. Results revealed four main themes that impact on the effectiveness of key workers' service provision. These are broadly categorised as (a) Engagement with the workplace, (b) Engagement with clients, (c) Professional capacity and (d) Staff Wellbeing. The findings aligned with previous studies identifying sources of support and stress for disability services staff. They also provided new insights into key workers' lack of confidence in addressing parental mental health issues, despite operating under a family-centred approach. These findings informed the development of an intervention trial and evaluation to improve support for parent and staff wellbeing within a Victorian Disability Service with the aim of building their capacity to support children with a disability.
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Pessoas com Deficiência , Pais , Austrália , Criança , Pré-Escolar , Intervenção Educacional Precoce , Humanos , Poder FamiliarRESUMO
Animal studies suggest that decreased vascular mitochondrial DNA copy number can promote hypertension. We conducted a chart review of blood pressure and hemodynamics in patients with either mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes (MELAS, n = 36) or individuals with variants in the mitochondrial DNA polymerase gamma (POLG, n = 26). The latter included both pathogenic variants and variants of unknown significance (VUS). Hypertension rates (MELAS 50%, POLG 50%) were elevated relative to Canadian norms in 20-39 (MELAS) and 40-59 (MELAS and POLG) years of age groups. Peripheral resistance was high in the hypertensive versus normotensive patients, potentially indicative of microvascular disease. Despite antihypertensive treatment, systolic blood pressure remained elevated in the POLG versus MELAS group. The risk of hypertension was not associated with MELAS heteroplasmy. Hypertension rates were not different between individuals with known pathogenic POLG variants and those with VUS, including common variants. Hypertension (HT) also did not differ between patients with POLG variants with (n = 17) and without chronic progressive external opthalmoplegia (n = 9) (CPEO). HT was associated with variants in all three functional domains of POLG. These findings suggest that both pathogenic variants and several VUS in the POLG gene may promote human hypertension and extend our past reports that increased risk of HT is associated with MELAS.
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DNA Polimerase gama/genética , Hipertensão/epidemiologia , Síndrome MELAS/epidemiologia , Mutação Puntual , Adulto , Distribuição por Idade , Idoso , Anti-Hipertensivos/uso terapêutico , Canadá/epidemiologia , Feminino , Humanos , Hipertensão/tratamento farmacológico , Hipertensão/genética , Síndrome MELAS/genética , Masculino , Pessoa de Meia-Idade , Estudos Retrospectivos , Adulto JovemRESUMO
PURPOSE: Pathogenic variants in the chromatin organizer CTCF were previously reported in seven individuals with a neurodevelopmental disorder (NDD). METHODS: Through international collaboration we collected data from 39 subjects with variants in CTCF. We performed transcriptome analysis on RNA from blood samples and utilized Drosophila melanogaster to investigate the impact of Ctcf dosage alteration on nervous system development and function. RESULTS: The individuals in our cohort carried 2 deletions, 8 likely gene-disruptive, 2 splice-site, and 20 different missense variants, most of them de novo. Two cases were familial. The associated phenotype was of variable severity extending from mild developmental delay or normal IQ to severe intellectual disability. Feeding difficulties and behavioral abnormalities were common, and variable other findings including growth restriction and cardiac defects were observed. RNA-sequencing in five individuals identified 3828 deregulated genes enriched for known NDD genes and biological processes such as transcriptional regulation. Ctcf dosage alteration in Drosophila resulted in impaired gross neurological functioning and learning and memory deficits. CONCLUSION: We significantly broaden the mutational and clinical spectrum ofCTCF-associated NDDs. Our data shed light onto the functional role of CTCF by identifying deregulated genes and show that Ctcf alterations result in nervous system defects in Drosophila.
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Fator de Ligação a CCCTC/genética , Fator de Ligação a CCCTC/metabolismo , Transtornos do Neurodesenvolvimento/genética , Animais , Criança , Cromatina/genética , Cromatina/metabolismo , Deficiências do Desenvolvimento/genética , Proteínas de Drosophila/genética , Proteínas de Drosophila/metabolismo , Drosophila melanogaster/genética , Drosophila melanogaster/metabolismo , Feminino , Perfilação da Expressão Gênica/métodos , Regulação da Expressão Gênica/genética , Humanos , Deficiência Intelectual/genética , Masculino , Mutação/genética , Mutação de Sentido Incorreto/genética , Transtornos do Neurodesenvolvimento/metabolismo , Fatores de Transcrição/genética , Sequenciamento do Exoma/métodos , Adulto JovemRESUMO
BACKGROUND: Early childhood intervention services support children with disabilities or developmental delays from birth to school entry with the aim to achieve optimal outcomes for children and their families. A transdisciplinary approach to delivering early childhood intervention, particularly the key worker model, is considered the best practice, where allied health professionals (eg, speech pathologists, physiotherapists, occupational therapists, psychologists, and special educators) and the family work together as a collaborative team to share information, knowledge, and skills across disciplinary boundaries, with a key worker coordinating and delivering most of the intervention to achieve the goals for the child and their family. Initial qualitative research demonstrated parents want their key worker to also support their mental well-being. Poor mental well-being of parents of a child with a disability is of relevance to key workers because of its association with poor child-related outcomes. One of the major challenges key workers report in supporting families is managing parent distress and, because of lack of confidence, is a secondary negative impact on their own well-being. OBJECTIVE: This trial has been developed in response to the negative cycle of low professional confidence to support parents' mental health, increased key worker stress, and high turnover of employees working within a disability service setting. METHODS: A stepped-wedge design is used to deliver and evaluate a capacity building intervention program, over a 9-month period, for key workers to improve both parent and staff mental well-being. The primary outcome is key workers' self-efficacy in supporting parental mental well-being. Secondary outcomes include manager self-efficacy in supporting key workers and staff perceptions of supervisory support, staff job-related mental well-being, parental satisfaction with their key worker, parental mental well-being, and cost-consequence of the program. RESULTS: This study was funded in October 2014, supported by an Australian National Health and Medical Research Council Partnership Project grant (Grant number 1076861). Focus groups and individual face-to-face interviews were conducted from February to November 2015 with 40 parents who have a child with a disability and 13 key workers to gain insight into how the disability service could better promote child and family health and well-being and to inform about the development of the trial. CONCLUSIONS: The stepped-wedge study design is practical and ethical for research with a vulnerable population group of parents of a child with a disability, providing high quality data with all participants exposed to the intervention by the end of the trial. TRIAL REGISTRATION: Australian New Zealand Clinical Trials Registry ACTRN12617001530314; https://www.anzctr.org.au/Trial/Registration/TrialReview.aspx?id=372578 (Archived by WebCite at http://www.webcitation.org/76XjDavnG). INTERNATIONAL REGISTERED REPORT IDENTIFIER (IRRID): DERR1-10.2196/12531.
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BACKGROUND: This paper identifies the best instruments for service providers to measure the quality of life (QoL) of children with a disability, with a focus on their alignment with the Convention on the Rights of Persons with a Disability (CRPD). METHODS: This study reviewed systematic reviews to identify generic QoL instruments for children and adolescents, followed by an appraisal process using newly developed criteria. QoL instruments with a health status, functioning, and condition-specific focus were excluded. RESULTS: Twenty generic QoL instruments for children were identified from existing systematic reviews to undergo further review. Only 2 of the 20 instruments were recommended for service providers to measure the QoL of children with a disability (KIDSCREEN and KINDL). Many pediatric QoL instruments (N = 9) focus on functioning and are not consistent with the CRPD, confounding a child's functioning with their feelings about their life. KIDSCREEN and KINDL have self-report and parent report versions, are applicable for childhood and adolescence, demonstrate adequate reliability and validity, involved children in their development, focus on wellbeing, are likely to be able to be completed by a child with a disability, and are low in cost. CONCLUSIONS: Many instruments focus on functioning rather than wellbeing and thus may not capture the QoL of children with a disability. A child's functional limitations may not be consistent with their feelings about life. Two instruments that assess wellbeing and meet the criteria important for service providers now require further testing to explore their usefulness and validity for children with varying abilities.
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Pessoas com Deficiência , Direitos Humanos , Pediatria , Qualidade de Vida , Inquéritos e Questionários/normas , Atividades Cotidianas , Adolescente , Criança , Pré-Escolar , Crianças com Deficiência , Emoções , Feminino , Pessoal de Saúde , Serviços de Saúde , Nível de Saúde , Humanos , MasculinoRESUMO
Cultural competence is an important aspect of health service access and delivery in health promotion and community health. Although a number of frameworks and tools are available to assist health service organizations improve their services to diverse communities, there are few published studies describing organizational cultural competence assessments and the extent to which these tools facilitate cultural competence. This article addresses this gap by describing the development of a cultural competence assessment, intervention, and evaluation tool called the Cultural Competence Organizational Review (CORe) and its implementation in three community sector organizations. Baseline and follow-up staff surveys and document audits were conducted at each participating organization. Process data and organizational documentation were used to evaluate and monitor the experience of CORe within the organizations. Results at follow-up indicated an overall positive trend in organizational cultural competence at each organization in terms of both policy and practice. Organizations that are able to embed actions to improve organizational cultural competence within broader organizational plans increase the likelihood of sustainable changes to policies, procedures, and practice within the organization. The benefits and lessons learned from the implementation of CORe are discussed.
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Serviços de Saúde Comunitária/organização & administração , Competência Cultural , Acessibilidade aos Serviços de Saúde/organização & administração , Humanos , Cultura Organizacional , Objetivos OrganizacionaisRESUMO
OBJECTIVES: The Teeth Tales trial aimed to establish a model for child oral health promotion for culturally diverse communities in Australia. DESIGN: An exploratory trial implementing a community-based child oral health promotion intervention for Australian families from migrant backgrounds. Mixed method, longitudinal evaluation. SETTING: The intervention was based in Moreland, a culturally diverse locality in Melbourne, Australia. PARTICIPANTS: Families with 1-4-year-old children, self-identified as being from Iraqi, Lebanese or Pakistani backgrounds residing in Melbourne. Participants residing close to the intervention site were allocated to intervention. INTERVENTION: The intervention was conducted over 5 months and comprised community oral health education sessions led by peer educators and follow-up health messages. OUTCOME MEASURES: This paper reports on the intervention impacts, process evaluation and descriptive analysis of health, knowledge and behavioural changes 18 months after baseline data collection. RESULTS: Significant differences in the Debris Index (OR=0.44 (0.22 to 0.88)) and the Modified Gingival Index (OR=0.34 (0.19 to 0.61)) indicated increased tooth brushing and/or improved toothbrushing technique in the intervention group. An increased proportion of intervention parents, compared to those in the comparison group reported that they had been shown how to brush their child's teeth (OR=2.65 (1.49 to 4.69)). Process evaluation results highlighted the problems with recruitment and retention of the study sample (275 complete case families). The child dental screening encouraged involvement in the study, as did linking attendance with other community/cultural activities. CONCLUSIONS: The Teeth Tales intervention was promising in terms of improving oral hygiene and parent knowledge of tooth brushing technique. Adaptations to delivery of the intervention are required to increase uptake and likely impact. A future cluster randomised controlled trial would provide strongest evidence of effectiveness if appropriate to the community, cultural and economic context. TRIAL REGISTRATION NUMBER: Australian New Zealand Clinical Trials Registry (ACTRN12611000532909).
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Cárie Dentária/prevenção & controle , Família , Educação em Saúde Bucal/métodos , Educação em Saúde/métodos , Promoção da Saúde/métodos , Migrantes , Austrália , Pré-Escolar , Feminino , Humanos , Lactente , Iraque/etnologia , Líbano/etnologia , Estudos Longitudinais , Masculino , Paquistão/etnologia , PaisRESUMO
INTRODUCTION: Inequalities are evident in early childhood caries rates with the socially disadvantaged experiencing greater burden of disease. This study builds on formative qualitative research, conducted in the Moreland/Hume local government areas of Melbourne, Victoria 2006-2009, in response to community concerns for oral health of children from refugee and migrant backgrounds. Development of the community-based intervention described here extends the partnership approach to cogeneration of contemporary evidence with continued and meaningful involvement of investigators, community, cultural and government partners. This trial aims to establish a model for child oral health promotion for culturally diverse communities in Australia. METHODS AND ANALYSIS: This is an exploratory trial implementing a community-based child oral health promotion intervention for Australian families from refugee and migrant backgrounds. Families from an Iraqi, Lebanese or Pakistani background with children aged 1-4 years, residing in metropolitan Melbourne, were invited to participate in the trial by peer educators from their respective communities using snowball and purposive sampling techniques. Target sample size was 600. Moreland, a culturally diverse, inner-urban metropolitan area of Melbourne, was chosen as the intervention site. The intervention comprised peer educator led community oral health education sessions and reorienting of dental health and family services through cultural Competency Organisational Review (CORe). ETHICS AND DISSEMINATION: Ethics approval for this trial was granted by the University of Melbourne Human Research Ethics Committee and the Department of Education and Early Childhood Development Research Committee. Study progress and output will be disseminated via periodic newsletters, peer-reviewed research papers, reports, community seminars and at National and International conferences. TRIAL REGISTRATION NUMBER: Australian New Zealand Clinical Trials Registry (ACTRN12611000532909).