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AIM: The purpose of this study was to evaluate whether pre-recorded video-based lectures (VBLs) covering a range of paediatric topics are an acceptable means of providing ongoing education for consultant and trainee paediatricians in Australia. METHODS: Previous participants (paediatric consultants and junior medical officers) of a neurology outreach teleconference programme offered by a paediatric neurologist between 2017 and 2020 were invited to participate in a multi-specialty pre-recorded video-based education programme. Acceptability was explored by assessing relevance, likelihood of utilising VBL's in the future, uptake and learning activity preferences. The impact of VBLs on confidence, currency and practice was also explored. Additional data including topics of interest, preferred video format, duration, viewing method and frequency of delivery were captured, to better understand participant preferences to inform future efforts. RESULTS: A total of 135 consented; 116 returned baseline; 94 returned follow-up surveys. Preferred learning activities included a live/interactive component. Videos were considered relevant. Preferences for pre-recorded videos improved from ninth to sixth most preferred learning activity post-intervention. VBL convenience and accessibility were valued. Practice was altered in: approach to management, use of treatments, confidence in decision-making, and discussion with families and patients. The average view duration was 16 min. Longer videos yielded slightly lower audience retention rates. For future offerings, the majority endorsed a preference for a 'mixed' video format and duration of 20-40 min, offered monthly. CONCLUSION: Video-based medical education is an appealing and sustainable alternative, given the convenience of unrestricted accessibility, in meeting ongoing learning needs of Australian paediatricians and trainees.
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Personal de Salud , Aprendizaje , Humanos , Niño , Australia , Personal de Salud/educación , Encuestas y Cuestionarios , PediatrasRESUMEN
Globally, autosomal recessive IFNAR1 deficiency is a rare inborn error of immunity underlying susceptibility to live attenuated vaccine and wild-type viruses. We report seven children from five unrelated kindreds of western Polynesian ancestry who suffered from severe viral diseases. All the patients are homozygous for the same nonsense IFNAR1 variant (p.Glu386*). This allele encodes a truncated protein that is absent from the cell surface and is loss-of-function. The fibroblasts of the patients do not respond to type I IFNs (IFN-α2, IFN-ω, or IFN-ß). Remarkably, this IFNAR1 variant has a minor allele frequency >1% in Samoa and is also observed in the Cook, Society, Marquesas, and Austral islands, as well as Fiji, whereas it is extremely rare or absent in the other populations tested, including those of the Pacific region. Inherited IFNAR1 deficiency should be considered in individuals of Polynesian ancestry with severe viral illnesses.
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Receptor de Interferón alfa y beta , Virosis , Alelos , Niño , Homocigoto , Humanos , PolinesiaRESUMEN
OBJECTIVE: To assess General Practitioner (GP) and pediatrician adherence to clinical practice guidelines (CPGs) for diagnosis, treatment and management of attention deficit hyperactivity disorder (ADHD). METHOD: Medical records for 306 children aged ≤15 years from 46 GP clinics and 20 pediatric practices in Australia were reviewed against 34 indicators derived from CPG recommendations. At indicator level, adherence was estimated as the percentage of indicators with 'Yes' or 'No' responses for adherence, which were scored 'Yes'. This was done separately for GPs, pediatricians and overall; and weighted to adjust for sampling processes. RESULTS: Adherence with guidelines was high at 83.6% (95% CI: 77.7-88.5) with pediatricians (90.1%; 95% CI: 73.0-98.1) higher than GPs (68.3%; 95% CI: 46.0-85.8; p = 0.02). Appropriate assessment for children presenting with signs or symptoms of ADHD was undertaken with 95.2% adherence (95% CI: 76.6-99.9), however ongoing reviews for children with ADHD prescribed stimulant medication was markedly lower for both pediatricians (51.1%; 95% CI: 9.6-91.4) and GPs (18.7%; 95% CI: 4.1-45.5). CONCLUSION: Adherence to CPGs for ADHD by pediatricians was generally high. Adherence by GPs was lower across most domains; timely recognition of medication side effects is a particular area for improvement.
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Trastorno por Déficit de Atención con Hiperactividad/terapia , Adhesión a Directriz/estadística & datos numéricos , Auditoría Médica , Registros Médicos/estadística & datos numéricos , Adolescente , Australia , Niño , Preescolar , Femenino , Humanos , MasculinoRESUMEN
BACKGROUND: Literature regarding congenital subependymal giant cell astrocytomas (SEGA) is limited, and suggests they are at risk of rapid growth and complications. We sought to characterise the growth patterns of congenital SEGA. The second part of the study was an exploratory analysis of congenital SEGA as a possible biomarker for poor neurological outcome. METHODS: This single-centre case series describes ten patients with TSC who had SEGA diagnosed before 12 months. SEGA diameter and volumetric growth were analysed using serial MRIs. Neurological outcomes were compared to a genotype-matched group. RESULTS: All children with congenital SEGA had a TSC2 mutation. Patients were followed for 1-8.7 years, during which median SEGA growth rate was 1.1 mm/yr in diameter or 150 mm3/yr volumetrically. SEGA with volume > 500 mm3 had a significantly higher growth rate compared with smaller SEGA (462 mm3/yr vs. 42 mm3/yr, p = 0.0095). Children with congenital SEGA had a high prevalence of severe epilepsy, developmental disability and autism spectrum disorder. CONCLUSION: Congenital SEGA can follow a relatively benign course with a lower growth rate compared with published literature. Frequent neuroimaging surveillance is recommended for congenital SEGA with volumes exceeding 500 mm3. IMPACT: Congenital SEGA occur in 9.2% of paediatric patients with tuberous sclerosis complex. There are few published cases of congenital SEGA to date. This case series of ten patients adds our experience seen in a tertiary referral hospital over 10 years. Congenital SEGA can follow a relatively benign course with a lower growth rate compared with published literature. Congenital SEGA with volume exceeding 500 mm3 had a significantly higher growth rate compared with smaller SEGA and should have more frequent neuroimaging surveillance.
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Astrocitoma/diagnóstico , Esclerosis Tuberosa/diagnóstico , Astrocitoma/complicaciones , Astrocitoma/patología , Niño , Femenino , Humanos , Lactante , Masculino , Resultado del Tratamiento , Esclerosis Tuberosa/complicaciones , Esclerosis Tuberosa/patologíaRESUMEN
INTRODUCTION: Developmental vulnerabilities in pre-school aged children from culturally and linguistically diverse (CALD) backgrounds with low English proficiency are less likely to be identified through universal developmental surveillance. Barriers include low parental health literacy and low rates of attendance to mainstream child and family health services. Late detection of developmental vulnerabilities can have lifelong impacts on life trajectory. METHOD: Integrated outreach early childhood developmental surveillance was trialled in South East Sydney by local health services with non-government organisations (NGO) delivering early childhood education and support. NGO staff were trained in Parents Evaluation of Developmental Status (PEDS), a validated developmental screening tool to explore parental/carer and provider concerns [1]. Families with children identified with developmental concerns by NGO staff were referred to co-located or visiting Child and Family Health Nurses (CFHN), community child health, speech pathology or developmental services for developmental screening, assessment and/or care planning. RESULTS: Integrated health and NGO services improved access to developmental surveillance for CALD families in a non-threatening environment enabled by co-locating CFHN, or through visits by paediatric medical/speech pathology staff to participating playgroups. CONCLUSIONS AND DISCUSSION: Integration supported vulnerable families from CALD backgrounds to access developmental surveillance through child and family health services but required flexibility and adjustments by all involved.
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Desarrollo Infantil , Barreras de Comunicación , Diversidad Cultural , Perdida de Seguimiento , Preescolar , Humanos , LactanteRESUMEN
BACKGROUND: Tuberous sclerosis complex (TSC) is an autosomal dominant condition associated with epilepsy, benign tumors, and variable neurodevelopmental outcomes. The diagnosis is most commonly made after epilepsy onset, although a proportion are diagnosed prenatally. Presymptomatic or early treatment with agents such as vigabatrin offers the hope of improved neurodevelopmental outcome. Therefore early diagnosis, before the onset of seizures, is important. In a cohort of children with TSC, we evaluated the age and mode of initial presentation, assessed the neurocognitive and epilepsy outcome, and analyzed whether those diagnosed before the onset of seizures have a different outcome compared with those diagnosed postseizures. METHODS: We reviewed patients at the TSC clinic at Sydney Children's Hospital who were born between 2001 and 2015. RESULTS: A total of 74 patients were identified: 34 (46%) diagnosed preseizure (21 prenatally) and 40 (54%) postseizure. In the preseizure cohort, 77% presented with cardiac rhabdomyoma(s) and 72% developed seizures. The postseizure cohort had more severe epilepsy, requiring more antiepileptic drugs for seizure control (median five, compared with three in the preseizure cohort [P = 0.01]). Developmental disability occurred in 65% of the preseizure cohort compared with 72% of the postseizure cohort. Severe developmental disability most often occurred in children who had their first seizure before age 12 months. CONCLUSION: Children who are diagnosed with TSC before the onset of seizures have less severe epilepsy and better developmental outcome.
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Trastornos del Neurodesarrollo/etiología , Esclerosis Tuberosa/complicaciones , Esclerosis Tuberosa/diagnóstico , Adolescente , Edad de Inicio , Niño , Preescolar , Estudios de Cohortes , Diagnóstico Precoz , Epilepsia/etiología , Femenino , Humanos , Lactante , Masculino , Mutación/genética , Trastornos del Neurodesarrollo/diagnóstico , Esclerosis Tuberosa/genética , Proteína 2 del Complejo de la Esclerosis Tuberosa , Proteínas Supresoras de Tumor/genéticaRESUMEN
BACKGROUND AND OBJECTIVE: Children from culturally and linguistically diverse (CALD) backgrounds are at risk of having developmental problems go undetected prior to starting school, and missing out on early intervention. Our aim was to explore the family and service characteristics, beliefs and experiences that influence the journey of families from CALD backgrounds in accessing developmental surveillance (DS) and early intervention services in south-eastern Sydney, Australia. DESIGN, SETTING AND PARTICIPANTS: This qualitative study used in-depth interviews conducted with 13 parents from CALD backgrounds and 27 health and early childhood professionals in Sydney. The Andersen Behavioural Model of Health Service Use (BM) was the underlying theoretical framework for thematic analysis. RESULTS AND DISCUSSION: Family and service knowledge about early childhood development (ECD), community attitudes, social isolation and English language proficiency were dominant themes that impacted on the probability of families accessing services in the first place. Those that impeded or facilitated access were resources, extended family and social support, information availability, competing needs, complex service pathways and community engagement. There were variable practices of early detection through DS. Children from CALD backgrounds with developmental problems were perceived to miss out on DS and early intervention despite language delay being a key issue identified by participants. CONCLUSION: This study highlights the importance of increased community and family awareness and professional training in ECD; better coordination of health and early childhood services, with simpler referral pathways to early intervention to prevent children from CALD backgrounds 'slipping through the net'.
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Barreras de Comunicación , Cultura , Intervención Educativa Precoz/métodos , Conocimientos, Actitudes y Práctica en Salud , Accesibilidad a los Servicios de Salud , Adulto , Australia , Preescolar , Femenino , Grupos Focales , Humanos , Masculino , Investigación CualitativaRESUMEN
AIMS: The study aims to assess the sensitivity and specificity of the Australian Developmental Screening Test (ADST) in a clinical setting in detecting developmental concerns that warrant further assessment or treatment. METHODS: Clients referred to an inner Sydney Community Health Centre with developmental concerns were initially assessed using the ADST, followed within 12 weeks by an assessment using the Griffiths Mental Developmental Scales (GMDS) as the gold standard. RESULTS: Of the 65 eligible children, 46 (71%) had results indicating further assessment (42) or follow-up (4) was needed (using the criteria recommended in the ADST manual). However, of these only 21 (46%) had an abnormal GMDS. This gave a sensitivity of 95% but a specificity of only 52%. New threshold criteria for further assessment were developed and applied to three age groups. If children aged under 2 years are assessed using the standard ADST threshold, and children 2 years or older are assessed using the new ADST cut-off, then the tool has a sensitivity of 95%, a specificity of 82%, a positive likelihood ratio of 5.24 (95% CI 2.78, 9.88) and negative likelihood ratio of 0.06 (0.01, 0.40). CONCLUSIONS: Modified criteria for the ADST developed in this study showed good specificity and sensitivity for detection of developmental problems in this population, referred because of developmental concerns. Further testing to see if these new criteria perform well in a different population is now needed.
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Desarrollo Infantil/fisiología , Tamizaje Masivo/normas , Australia , Preescolar , Intervalos de Confianza , Femenino , Humanos , Lactante , Masculino , Tamizaje Masivo/métodos , Nueva Gales del SurRESUMEN
AIM: It has been reported that rates of epilepsy and mortality are higher among the population with autism spectrum disorder (ASD) than in the general population. The aim of this systematic review is to provide comprehensive evidence for clinicians, carers, and people with ASD regarding these outcomes. METHOD: Studies were eligible for inclusion if the main focus of the study involved observation over a period of 12 months or more of an initially defined population (with appropriate diagnostic label). Studies were also required to have at least 30 participants in order to differentiate case series from cohort studies. The Cochrane Database of Systematic Reviews, the Database of Reviews of Effectiveness, MEDLINE, PsycINFO, EMBASE, and CINAHL were searched. The date of the last search was September 2010. The risk of bias of included studies was assessed and a meta-analysis was undertaken. RESULTS: Twenty-one studies were identified, 16 measuring the percentage of participants with epilepsy and five measuring mortality using a standardized mortality ratio. The pooled estimate for the percentage of participants with epilepsy was 1.8% (95% CI 0.4-9.4%) in studies in which the majority did not have an intellectual disability and the mean age was <12 years at follow-up, and 23.7% (95% CI 17.5-30.5%) in studies in which the majority did have an intellectual disability and the mean age at follow-up was more than 12 years. The pooled estimate for the standardized mortality ratio was 2.8 (95% CI 1.8-4.2). INTERPRETATION: The prevalence of epilepsy is higher among the population with ASD than in the general population. People with ASD have a higher risk of mortality than the general population. This has important health promotion implications.