Your browser doesn't support javascript.
loading
Mostrar: 20 | 50 | 100
Resultados 1 - 20 de 36
Filtrar
1.
Int J Nurs Stud ; 158: 104842, 2024 Jun 15.
Artigo em Inglês | MEDLINE | ID: mdl-38964221

RESUMO

BACKGROUND: Behavioural emergencies involving aggression in acute care hospitals are increasing globally. Acute care staff are often not trained or confident in their prevention or management. Of available training options simulation-based education is superior for clinical medical education and is gaining acceptance for teaching clinical aggression management skills. OBJECTIVE: The aim of this study was to conduct a systematic review of the effectiveness of simulation-based education for teaching aggression management skills for health professionals working in acute healthcare settings. METHODS: The study protocol was prepared in accordance with the Preferred Reporting Items for Systematic Reviews and Meta-Analysis Protocols (PRISMA-P) statement, registered (27/02/2020) and published. We included randomised controlled trials, non-randomised controlled trials, quasi-experimental studies, and observational studies involving healthcare professionals in acute hospital settings or trainee health professionals who received simulation-based training on managing patient aggression. Comprehensive searches were conducted in PubMed, Ovid MEDLINE, PsycINFO, CINAHL and The Cochrane Library. Two reviewers independently screened all records, extracted data and assessed risk of bias. The primary outcomes included patient outcomes, quality of care, and adverse effects. Secondary outcomes included workplace resource use, healthcare provider related outcomes, knowledge (de-escalation techniques), performance, attitudes, and satisfaction. A narrative synthesis of included studies was performed because substantial variation of interventions and outcome measures precluded meta-analyses. RESULTS: Twenty-five studies were included with 2790 participants, 2585 (93 %) acute care hospital staff and 205 (7 %) undergraduate university students. Twenty-two studies combined simulation-based education with at least one other training modality. Three studies were randomised controlled trials, one was a pilot and feasibility cluster randomised controlled trial, one was a three-group post-test design and twenty were pre-/post-test design. Twenty-four studies were deemed to be high/critical or serious risk of bias. Four studies collected primary outcome data, all using different methods and with inconsistent findings. Twenty-one studies assessed performance in the test situation, seven studies provided objective ratings of performance and eighteen provided self-report data. Twenty-three studies reported objective or subjective improvements in secondary outcomes. CONCLUSIONS: Acute healthcare staff who completed simulation-based education on managing clinical aggression showed statistically significant improvements in knowledge and self-reported confidence. However, there is a lack of evidence about the magnitude of these improvements and impact on patient outcomes. REGISTRATION: PROSPERO Registration Number CRD42020151002. TWEETABLE ABSTRACT: Simulation-based education improved acute healthcare clinician knowledge and confidence in managing aggression.

2.
Artigo em Inglês | MEDLINE | ID: mdl-38824199

RESUMO

This study aims to describe the utilisation of psychotropic medications in Australian autistic children and adolescents. All children and adolescents with available Pharmaceutical Benefits Scheme data who endorsed an autism diagnosis in The Longitudinal Study of Australian Children, including both B (n = 233, age 0-1 years in wave 1) and K cohorts (n = 157, age 4-5 years in wave 1), were included to describe psychotropic prescribing patterns. 212 (54.4%) autistic children and adolescents received at least one psychotropic prescription and 99 (25.4%) had polypharmacy. The most common psychotropic class prescribed was antidepressants (31.3%). Children in the B cohort were more likely to have a parent-reported diagnosis of anxiety or depression (χ2 = 12.18, p < 0.001) and tended to be more likely to have received a psychotropic prescription (χ2 = 3.54, p = 0.06). Psychotropic prescribing in Australian autistic children is common despite limited evidence for efficacy and tolerability of psychotropics in this group.

3.
Autism Res ; 2024 Jun 03.
Artigo em Inglês | MEDLINE | ID: mdl-38828606

RESUMO

To examine predictors and growth in language for verbal autistic and non-autistic children with/without low language from 4 to 11 years. Receptive and expressive language trajectories were compared in a community sample of 1026 children at ages 5, 7, and 11 years, across four groups: two autistic groups; one with and one without low language; and two non-autistic groups; one with and one without low language. Groups were delineated on baseline assessment at 4 years. Non-autistic and autistic children with low language had lower mean expressive language scores than the non-autistic typical language group (22.26 and 38.53 units lower, respectively, p < 0.001), yet demonstrated faster language growth across 5 to 11 years (p < 0.001 and p = 0.002, respectively). Both groups without low language had similar mean expressive language scores (p = 0.864) and a comparable rate of growth (p = 0.645). Language at 4 years was the only consistent predictor of language at 11 years for autistic children. Results were similar for receptive language in all analyses except there was no significant difference in rate of progress (slope) for the autistic with low language group compared with the typical language group (p = 0.272). Findings suggest early language ability, rather than a diagnosis of autism, is key to determining language growth and outcomes at 11 years in verbal children. Furthermore, children with low language showed developmental acceleration compared with same age peers.

4.
J Med Genet ; 61(6): 578-585, 2024 May 21.
Artigo em Inglês | MEDLINE | ID: mdl-38290825

RESUMO

OBJECTIVES: Speech and language impairments are core features of the neurodevelopmental genetic condition Kleefstra syndrome. Communication has not been systematically examined to guide intervention recommendations. We define the speech, language and cognitive phenotypic spectrum in a large cohort of individuals with Kleefstra syndrome. METHOD: 103 individuals with Kleefstra syndrome (40 males, median age 9.5 years, range 1-43 years) with pathogenic variants (52 9q34.3 deletions, 50 intragenic variants, 1 balanced translocation) were included. Speech, language and non-verbal communication were assessed. Cognitive, health and neurodevelopmental data were obtained. RESULTS: The cognitive spectrum ranged from average intelligence (12/79, 15%) to severe intellectual disability (12/79, 15%). Language ability also ranged from average intelligence (10/90, 11%) to severe intellectual disability (53/90, 59%). Speech disorders occurred in 48/49 (98%) verbal individuals and even occurred alongside average language and cognition. Developmental regression occurred in 11/80 (14%) individuals across motor, language and psychosocial domains. Communication aids, such as sign and speech-generating devices, were crucial for 61/103 (59%) individuals including those who were minimally verbal, had a speech disorder or following regression. CONCLUSIONS: The speech, language and cognitive profile of Kleefstra syndrome is broad, ranging from severe impairment to average ability. Genotype and age do not explain the phenotypic variability. Early access to communication aids may improve communication and quality of life.


Assuntos
Deleção Cromossômica , Cromossomos Humanos Par 9 , Cognição , Anormalidades Craniofaciais , Deficiência Intelectual , Fenótipo , Humanos , Masculino , Deficiência Intelectual/genética , Deficiência Intelectual/fisiopatologia , Criança , Adolescente , Feminino , Adulto , Pré-Escolar , Cromossomos Humanos Par 9/genética , Adulto Jovem , Lactente , Anormalidades Craniofaciais/genética , Anormalidades Craniofaciais/fisiopatologia , Fala , Distúrbios da Fala/genética , Distúrbios da Fala/fisiopatologia , Idioma , Inteligência/genética , Transtornos da Linguagem/genética , Transtornos da Linguagem/fisiopatologia , Cardiopatias Congênitas
6.
J Autism Dev Disord ; 53(7): 2835-2850, 2023 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-35445370

RESUMO

This study investigated sex and age differences in autistic behaviours in children with neurofibromatosis type 1 (NF1) who scored within the clinical range on the Social Responsiveness Scale - Second Edition (T score ≥ 60). Thirty-four males and 28 females (3-16 years) were assessed with the Autism Diagnostic Observation Schedule - Second Edition and Autism Diagnostic Interview - Revised. Across both measures, males exhibited greater social communication deficits relative to females. Age-related abatement of social communication difficulties was observed for males but not females. Conversely, no sex differences were found for restricted/repetitive behaviours, which were stable over time for both males and females. The findings are discussed within the context of broader neurodevelopmental considerations that are common in NF1.


Assuntos
Transtorno do Espectro Autista , Transtorno Autístico , Neurofibromatose 1 , Masculino , Humanos , Criança , Transtorno Autístico/diagnóstico , Neurofibromatose 1/complicações , Neurofibromatose 1/diagnóstico , Comunicação , Idioma
7.
Autism Res ; 16(2): 250-270, 2023 02.
Artigo em Inglês | MEDLINE | ID: mdl-36412557

RESUMO

This review systematically synthesized evidence on the association between structural language ability and behaviors of concern (BoC) in autism. Four databases were searched for studies that included >10 autistic participants, measures of structural language (content and/or form of language) and BoC, and an analysis of their association. BoCs included self-injurious behavior (SIB), aggression, tantrums, and externalizing behavior. Methodological quality of studies were assessed using the Newcastle Ottawa Scale. Forty-five publications (n = 11,961) were included. Forty studies were cross-sectional and five were prospective cohort studies. Over 70% of the studies investigating expressive language and SIB (n = 10), aggression (n = 5), tantrums (n = 3), and externalizing behavior (n = 17) reported an inverse association, where lower expressive language ability was associated with increased BoC. Eleven out of sixteen studies of combined expressive and receptive language reported an inverse relationship with SIB or aggression. All outcomes were rated as moderate to very low certainty of evidence. This review highlights evidence showing an inverse association between expressive or combined language ability and SIB, and externalizing behavior in autism. However, further high-quality studies that use standardized, consistent measures of language and behavior and investigate longitudinal associations are needed. Early detection and support for reduced structural language difficulties have substantial potential to assist in reducing BoC.


Assuntos
Transtorno do Espectro Autista , Transtorno Autístico , Transtornos da Comunicação , Humanos , Transtorno Autístico/complicações , Transtorno do Espectro Autista/complicações , Estudos Prospectivos , Idioma , Transtornos da Comunicação/complicações
8.
Int J Med Inform ; 169: 104910, 2023 01.
Artigo em Inglês | MEDLINE | ID: mdl-36343511

RESUMO

BACKGROUND: Electronic medical record (EMR) adoption across healthcare necessitates a purposeful curriculum design to prepare graduates for the delivery of safe and effective patient care in digitally-enabled environments. OBJECTIVE: To describe the design and development of an Interprofessional Electronic Medical Record (iEMR) subject that introduces healthcare students to its utility in clinical settings. METHODS: A six-stage design-based educational research framework (Focus, Formulation, Contextualisation, Definition, Implementation, Evaluation) was used to instigate the iEMR design and development in nursing and five allied health graduate entry to practice (preregistration) degrees at an Australian university. RESULTS: In the Focus process, the concept and interdisciplinary partnerships were developed. The Formulation process secured grant support for subject design and development, including a rapid literature review to accommodate various course and curriculum structures. Discipline-specific subject themes were created through the Contextualisation process. During the Definition process, learning objectives and content resources were built. The Implementation process describes the pilot implementation in the nursing program, where assessment tasks were refined, and interdisciplinary clinical case studies originated. DISCUSSION: The design and development of an iEMR subject is underpinned by internal support for educational innovation and in alignment with digital health strategies in employer organisations. Identified barriers include faculty-level changes in strategic support for teaching innovation, managerial expectations of workload, the scope of work required by academics and learning designers, and the gap between the technology platform required to support online learning and the infrastructure needed to support simulated EMR use. A key discovery was the difficulty of finding EMR software, whether designed for teaching purposes or for clinical use, that could be adapted to meet the needs of this project. CONCLUSION: The lessons learned are relevant to educators and learning designers attempting a similar process. Issues remain surrounding the sustainability of the iEMR subject and maintaining academic responsibility for ongoing curriculum management.


Assuntos
Educação a Distância , Registros Eletrônicos de Saúde , Humanos , Austrália , Currículo , Atenção à Saúde
9.
Cochrane Database Syst Rev ; 9: CD012749, 2022 09 28.
Artigo em Inglês | MEDLINE | ID: mdl-36169177

RESUMO

BACKGROUND: Autism spectrum disorder is a neurodevelopmental disorder characterised by social communication difficulties, restricted interests and repetitive behaviours. The clinical pathway for children with a diagnosis of autism spectrum disorder is varied, and current research suggests some children may not continue to meet diagnostic criteria over time. OBJECTIVES: The primary objective of this review was to synthesise the available evidence on the proportion of preschool children who have a diagnosis of autism spectrum disorder at baseline (diagnosed before six years of age) who continue to meet diagnostic criteria at follow-up one or more years later (up to 19 years of age). SEARCH METHODS: We searched MEDLINE, Embase, PsycINFO, and eight other databases in October 2017 and ran top-up searches up to July 2021. We also searched reference lists of relevant systematic reviews. SELECTION CRITERIA: Two review authors independently assessed prospective and retrospective follow-up studies that used the same measure and process within studies to diagnose autism spectrum disorder at baseline and follow-up. Studies were required to have at least one year of follow-up and contain at least 10 participants. Participants were all aged less than six years at baseline assessment and followed up before 19 years of age. DATA COLLECTION AND ANALYSIS: We extracted data on study characteristics and the proportion of children diagnosed with autism spectrum disorder at baseline and follow-up. We also collected information on change in scores on measures that assess the dimensions of autism spectrum disorder (i.e. social communication and restricted interests and repetitive behaviours). Two review authors independently extracted data on study characteristics and assessed risk of bias using a modified quality in prognosis studies (QUIPS) tool. We conducted a random-effects meta-analysis or narrative synthesis, depending on the type of data available. We also conducted prognostic factor analyses to explore factors that may predict diagnostic outcome. MAIN RESULTS: In total, 49 studies met our inclusion criteria and 42 of these (11,740 participants) had data that could be extracted. Of the 42 studies, 25 (60%) were conducted in North America, 13 (31%) were conducted in Europe and the UK, and four (10%) in Asia. Most (52%) studies were published before 2014. The mean age of the participants was 3.19 years (range 1.13 to 5.0 years) at baseline and 6.12 years (range 3.0 to 12.14 years) at follow-up. The mean length of follow-up was 2.86 years (range 1.0 to 12.41 years). The majority of the children were boys (81%), and just over half (60%) of the studies primarily included participants with intellectual disability (intelligence quotient < 70). The mean sample size was 272 (range 10 to 8564). Sixty-nine per cent of studies used one diagnostic assessment tool, 24% used two tools and 7% used three or more tools. Diagnosis was decided by a multidisciplinary team in 41% of studies. No data were available for the outcomes of social communication and restricted and repetitive behaviours and interests. Of the 42 studies with available data, we were able to synthesise data from 34 studies (69% of all included studies; n = 11,129) in a meta-analysis. In summary, 92% (95% confidence interval 89% to 95%) of participants continued to meet diagnostic criteria for autism spectrum disorder from baseline to follow-up one or more years later; however, the quality of the evidence was judged as low due to study limitations and inconsistency. The majority of the included studies (95%) were rated at high risk of bias. We were unable to explore the outcomes of change in social communication and restricted and repetitive behaviour and interests between baseline and follow-up as none of the included studies provided separate domain scores at baseline and follow-up. Details on conflict of interest were reported in 24 studies. Funding support was reported by 30 studies, 12 studies omitted details on funding sources and two studies reported no funding support. Declared funding sources were categorised as government, university or non-government organisation or charity groups. We considered it unlikely funding sources would have significantly influenced the outcomes, given the nature of prognosis studies. AUTHORS' CONCLUSIONS: Overall, we found that nine out of 10 children who were diagnosed with autism spectrum disorder before six years of age continued to meet diagnostic criteria for autism spectrum disorder a year or more later, however the evidence was uncertain. Confidence in the evidence was rated low using GRADE, due to heterogeneity and risk of bias, and there were few studies that included children diagnosed using a current classification system, such as the fifth edition of the Diagnostic and Statistical Manual of Mental Disorders (DSM-5) or the eleventh revision of the International Classification of Diseases (ICD-11). Future studies that are well-designed, prospective and specifically assess prognosis of autism spectrum disorder diagnoses are needed. These studies should also include contemporary diagnostic assessment methods across a broad range of participants and investigate a range of relevant prognostic factors.


Assuntos
Transtorno do Espectro Autista , Adulto , Transtorno do Espectro Autista/diagnóstico , Criança , Pré-Escolar , Feminino , Humanos , Lactente , Masculino , Prognóstico , Estudos Prospectivos , Estudos Retrospectivos , Instituições Acadêmicas , Adulto Jovem
10.
Cochrane Database Syst Rev ; 8: CD013845, 2022 08 25.
Artigo em Inglês | MEDLINE | ID: mdl-36006807

RESUMO

BACKGROUND: Autism spectrum disorder (ASD; also known as autism) is a developmental disability that begins in childhood and is typically seen in around 1% to 2% of children. It is characterised by social communication difficulties and repetitive and restricted behaviours and routines that can have a negative impact on a child's quality of life, achievement at school, and social interactions with others. It has been hypothesised that memantine, which is traditionally used to treat dementia, may be effective in reducing the core symptoms of autism as well as some co-occurring symptoms such as hyperactivity and language difficulties. If memantine is being used to treat the core symptoms of autism, it is important to review the evidence of its effectiveness. OBJECTIVES: To assess the effects of memantine on the core symptoms of autism, including, but not limited to, social communication and stereotypical behaviours. SEARCH METHODS: We searched CENTRAL, MEDLINE, Embase, nine other databases and three trials registers up to February 2022. We also checked reference lists of key studies and checked with experts in the field for any additional papers. We searched for retractions of the included studies in MEDLINE, Embase, and the Retraction Watch Database. No retractions or corrections were found. SELECTION CRITERIA: We included randomised controlled trials (RCTs) of any dose of memantine compared with placebo in autistic people. We also included RCTs in which only one group received memantine, but both groups received the same additional therapy (e.g. a behaviour intervention). DATA COLLECTION AND ANALYSIS: We used standard Cochrane methods. Our primary outcomes were core autism symptoms and adverse effects. Secondary outcomes were language, intelligence, memory, adaptive behaviour, hyperactivity, and irritability. We used GRADE to assess certainty of evidence. MAIN RESULTS: We included three RCTs (two double-blind and one single-blind) with 204 participants that examined the short-term effect (immediately postintervention) of memantine in autistic people. Two studies took place in the USA and the other in Iran. All three studies focused on children and adolescents, with a mean age of 9.40 (standard deviation (SD) 2.26) years. Most participants were male (range across studies 73% to 87%). The diagnosis of ASD was based on the Diagnostic and Statistical Manual of Mental Disorders (4th edition; 4th edition, text revision; or 5th edition). To confirm the diagnosis, one study used the Autism Diagnostic Observation Schedule (ADOS) and the Autism Diagnostic Interview-Revised (ADI-R); one used ADOS, ADI-R or the Autism Diagnostic Interview Screener; and one used the Gilliam Autism Rating Scale. Dosage of memantine was based on the child's weight and ranged from 3 mg to 15 mg per day.  Comparisons  Two studies examined memantine compared with placebo; in the other study, both groups had a behavioural intervention while only one group was given memantine.  Risk of bias All studies were rated at high risk of bias overall, as they were at high or unclear risk of bias across all but four domains in one study, and all but two domains in the other two studies. One study was funded by Forest Laboratories, LLC, (Jersey City, New Jersey), Allergan. The study sponsor was involved in the study design, data collection (via contracted clinical investigator sites), analysis and interpretation of data, and the decision to present these results. The other two studies reported no financial support or sponsorship; though in one of the two, the study medication was an in-kind contribution from Forest Pharmaceuticals. Primary outcomes There was no clear evidence of a difference between memantine and placebo with respect to severity of core symptoms of autism, although we are very uncertain about the evidence. The standardised mean difference in autism symptoms score in the intervention group versus the control group was -0.74 standard deviations (95% confidence interval (CI) -2.07 to 0.58; 2 studies, 181 participants; very low-certainty evidence; medium effect size); lower scores indicate less severe autistic symptoms. Two studies (144 participants) recorded adverse effects that the authors deemed related to the study and found there may be no difference between memantine and placebo (odds ratio (OR) 0.64, 95% CI 0.17 to 2.39; low-certainty evidence). Secondary outcomes There may be no difference between memantine and placebo on language (2 studies, 144 participants; low-certainty evidence); memory or adaptive behaviour (1 study, 23 participants; both low-certainty evidence); or hyperactivity or irritability (1 study, 121 participants; both low-certainty evidence). AUTHORS' CONCLUSIONS: It is unclear whether memantine is an effective treatment for autistic children. None of the three included trials reported on the effectiveness of memantine in adults. Further studies using rigorous designs, larger samples, longer follow-up and clinically meaningful outcome measures that are important to autistic people and their families will strengthen our knowledge of the effects of memantine in autism.


Assuntos
Transtorno do Espectro Autista , Memantina , Adolescente , Adulto , Transtorno do Espectro Autista/tratamento farmacológico , Criança , Feminino , Humanos , Masculino , Memantina/uso terapêutico , Razão de Chances , Avaliação de Resultados em Cuidados de Saúde , Ensaios Clínicos Controlados Aleatórios como Assunto , Resultado do Tratamento
11.
Eur J Hum Genet ; 30(7): 800-811, 2022 07.
Artigo em Inglês | MEDLINE | ID: mdl-35437318

RESUMO

Speech and language impairments are commonly reported in DYRK1A syndrome. Yet, speech and language abilities have not been systematically examined in a prospective cohort study. Speech, language, social behaviour, feeding, and non-verbal communication skills were assessed using standardised tools. The broader health and medical phenotype was documented using caregiver questionnaires, interviews and confirmation with medical records. 38 individuals with DYRK1A syndrome (23 male, median age 8 years 3 months, range 1 year 7 months to 25 years) were recruited. Moderate to severe intellectual disability (ID), autism spectrum disorder (ASD), vision, motor and feeding impairments were common, alongside epilepsy in a third of cases. Speech and language was disordered in all participants. Many acquired some degree of verbal communication, yet few (8/38) developed sufficient oral language skills to rely solely on verbal communication. Speech was characterised by severe apraxia and dysarthria in verbal participants, resulting in markedly poor intelligibility. Those with limited verbal language (30/38) used a combination of sign and graphic augmentative and alternative communication (AAC) systems. Language skills were low across expressive, receptive, and written domains. Most had impaired social behaviours (25/29). Restricted and repetitive interests were most impaired, whilst social motivation was a relative strength. Few individuals with DYRK1A syndrome use verbal speech as their sole means of communication, and hence, all individuals need early access to tailored, graphic AAC systems to support their communication. For those who develop verbal speech, targeted therapy for apraxia and dysarthria should be considered to improve intelligibility and, consequently, communication autonomy.


Assuntos
Apraxias , Transtorno do Espectro Autista , Transtornos do Desenvolvimento da Linguagem , Apraxias/genética , Disartria , Humanos , Transtornos do Desenvolvimento da Linguagem/genética , Masculino , Motivação , Estudos Prospectivos , Fala , Síndrome
12.
Mol Autism ; 13(1): 3, 2022 01 04.
Artigo em Inglês | MEDLINE | ID: mdl-34983638

RESUMO

BACKGROUND: Existing research has demonstrated elevated autistic behaviours in children with neurofibromatosis type 1 (NF1), but the autistic phenotype and its relationship to other neurodevelopmental manifestations of NF1 remains unclear. To address this gap, we performed detailed characterisation of autistic behaviours in children with NF1 and investigated their association with other common NF1 child characteristics. METHODS: Participants were drawn from a larger cross-sectional study examining autism in children with NF1. The population analysed in this study scored above threshold on the Social Responsiveness Scale-Second Edition (T-score ≥ 60; 51% larger cohort) and completed the Autism Diagnostic Interview-Revised (ADI-R) and/or the Autism Diagnostic Observation Schedule-Second Edition (ADOS-2). All participants underwent evaluation of their intellectual function, and behavioural data were collected via parent questionnaires. RESULTS: The study cohort comprised 68 children (3-15 years). Sixty-three per cent met the ADOS-2 'autism spectrum' cut-off, and 34% exceeded the more stringent threshold for 'autistic disorder' on the ADI-R. Social communication symptoms were common and wide-ranging, while restricted and repetitive behaviours (RRBs) were most commonly characterised by 'insistence on sameness' (IS) behaviours such as circumscribed interests and difficulties with minor changes. Autistic behaviours were weakly correlated with hyperactive/impulsive attention deficit hyperactivity disorder (ADHD) symptoms but not with inattentive ADHD or other behavioural characteristics. Language and verbal IQ were weakly related to social communication behaviours but not to RRBs. LIMITATIONS: Lack of genetic validation of NF1, no clinical diagnosis of autism, and a retrospective assessment of autistic behaviours in early childhood. CONCLUSIONS: Findings provide strong support for elevated autistic behaviours in children with NF1. While these behaviours were relatively independent of other NF1 comorbidities, the importance of taking broader child characteristics into consideration when interpreting data from autism-specific measures in this population is highlighted. Social communication deficits appear similar to those observed in idiopathic autism and are coupled with a unique RRB profile comprising prominent IS behaviours. This autistic phenotype and its relationship to common NF1 comorbidities such as anxiety and executive dysfunction will be important to examine in future research. Current findings have important implications for the early identification of autism in NF1 and clinical management.


Assuntos
Transtorno Autístico , Neurofibromatose 1 , Transtorno Autístico/genética , Pré-Escolar , Estudos Transversais , Humanos , Neurofibromatose 1/complicações , Neurofibromatose 1/diagnóstico , Fenótipo , Estudos Retrospectivos
13.
Am J Speech Lang Pathol ; 30(3S): 1542-1557, 2021 06 18.
Artigo em Inglês | MEDLINE | ID: mdl-33852328

RESUMO

Purpose Understanding what limits speech development in minimally verbal (MV) children with autism spectrum disorder (ASD) is important for providing highly effective targeted therapies. This preliminary investigation explores the extent to which developmental speech deficits predicted by Directions Into Velocities of Articulators (DIVA), a computational model of speech production, exemplify real phenotypes. Method Implementing a motor speech disorder in DIVA predicted that speech would become highly variable within and between tokens, while implementing a motor speech plus an auditory processing disorder predicted that DIVA's speech would become highly centralized (schwa-like). Acoustic analyses of DIVA's output predicted that acoustically measured phoneme distortion would be similar between the two cases, but that in the former case, speech would show more within- and between-token variability than in the latter case. We tested these predictions quantitatively on the speech of children with MV ASD. In Study 1, we tested the qualitative predictions using perceptual analysis methods. Speech pathologists blinded to the purpose of the study tallied the signs of childhood apraxia of speech that appeared in the speech of 38 MV children with ASD. K-means clustering was used to create two clusters from the group of 38, and analysis of variance was used to determine whether the clusters differed according to perceptual features corresponding to within- and between-token variability. In Study 2, we employed acoustic analyses on the speech of the child from each cluster who produced the largest number of analyzable tokens to test the predictions of differences in within-token variability, between-token variability, and vowel space area. Results Clusters produced by k-means analysis differed by perceptual features that corresponded to within-token variability. Nonsignificant differences between clusters were found for features corresponding to between-token variability. Subsequent acoustic analyses of the selected cases revealed that the speech of the child from the high-variability cluster showed significantly more quantitative within- and between-token variability than the speech of the child from the low-variability cluster. The vowel space of the child from the low-variability cluster was more centralized than that of typical children and that of the child from the high-variability cluster. Conclusions Results provide preliminary evidence that subphenotypes of children with MV ASD may exist, characterized by (a) comorbid motor speech disorder and (b) comorbid motor speech plus auditory processing disorder. The results motivate testable predictions about how these comorbidities affect speech. Supplemental Material https://doi.org/10.23641/asha.14384432.


Assuntos
Apraxias , Transtorno do Espectro Autista , Transtornos do Desenvolvimento da Linguagem , Transtorno do Espectro Autista/complicações , Transtorno do Espectro Autista/diagnóstico , Criança , Humanos , Transtornos do Desenvolvimento da Linguagem/diagnóstico , Transtornos do Desenvolvimento da Linguagem/terapia , Fala , Distúrbios da Fala/diagnóstico , Distúrbios da Fala/terapia
15.
J Fluency Disord ; 70: 105843, 2021 12.
Artigo em Inglês | MEDLINE | ID: mdl-33743406

RESUMO

PURPOSE: This systematic review critically appraises and maps the evidence for stuttering interventions in childhood and adolescence. We examine the effectiveness of speech-focused treatments, the efficacy of alternative treatment delivery methods and identify gaps in the research evidence. METHODS: Nine electronic databases and three clinical trial registries were searched for systematic reviews, randomised controlled trials (RCTs) and studies that applied an intervention with children (2-18 years) who stutter. Pharmacological interventions were excluded. Primary outcomes were a measure of stuttering severity and quality assessments were conducted on all included studies. RESULTS: Eight RCTs met inclusion criteria and were analysed. Intervention approaches included direct (i.e. Lidcombe Program; LP) and indirect treatments (e.g. Demands and Capacities Model; DCM). All studies had moderate risk of bias. Treatment delivery methods included individual face-to-face, telehealth and group-based therapy. Both LP and DCM approaches were effective in reducing stuttering in preschool aged children. LP had the highest level of evidence (pooled effect size=-3.8, CI -7.3 to -0.3 for LP). There was no high-level evidence for interventions with school-aged children or adolescents. Alternative methods of delivery were as effective as individual face-to-face intervention. CONCLUSION: The findings of this systematic review and evidence mapping are useful for clinicians, researchers and service providers seeking to understand the existing research to support the advancement of interventions for children and adolescence who stutter. Findings could be used to inform further research and support clinical decision-making.


Assuntos
Gagueira , Adolescente , Criança , Pré-Escolar , Humanos , Ensaios Clínicos Controlados Aleatórios como Assunto , Gagueira/terapia
16.
Aust J Gen Pract ; 50(3): 115-119, 2021 03.
Artigo em Inglês | MEDLINE | ID: mdl-33634276

RESUMO

BACKGROUND: In Australia, preschoolers are being identified and diagnosed as autistic. OBJECTIVE: The aim of this article is to describe the different paths preschool children and their families can take from identification of developmental or behavioural concerns to ongoing support, intervention and healthcare. DISCUSSION: There are many ways in which general practitioners, working alongside other professionals and with relevant services, can assist each child and family.


Assuntos
Transtorno Autístico , Clínicos Gerais , Austrália , Transtorno Autístico/diagnóstico , Pré-Escolar , Atenção à Saúde , Humanos
17.
Autism Res ; 14(4): 773-786, 2021 04.
Artigo em Inglês | MEDLINE | ID: mdl-33442959

RESUMO

This study aimed to explore the stability of parent-reported diagnosis of Autism Spectrum Disorder (ASD) and factors influencing the trajectories in two cohorts from the prospective Longitudinal Study of Australian Children (LSAC). Parent-reported ASD diagnosis was collected for children from 6 years of age in a Birth cohort and 10 years of age in a Kinder cohort; allowing for exploration of diagnostic stability at age 6, 8, 10, and 12 years (Birth cohort) and 10, 12, 14, 16 years (Kinder cohort). Children were grouped based on persisting, desisting, inconsistent and late (diagnosis after 6 years-Birth cohort; after 10 years-Kinder) subgroups over four timepoints. Multinomial logistic regression explored predictors of diagnostic trajectories; generalized estimating equations examined trajectories of emotional and behavioral problems. Of 66 Birth cohort children parent-reported to have ASD at age 6, with data at all four time points, 14% did not at 12 years; of 73 Kinder cohort children at age 10 years, 26% no longer had parent-reported ASD at 16 years. Children with late diagnoses showed increasing trajectories of emotional and behavioral problems, while children with persisting or desisting diagnoses showed decreasing trajectories. Between 86% and 74% had a reported ASD diagnosis after 6 years. Findings indicate that children with ASD need services and supports that can adapt to their changing needs, which may be increasing, decreasing or different. This has implications for the provision of services and funding. LAY SUMMARY: This study explored how consistent parent-reported ASD diagnosis is over time in two groups of children from the Longitudinal Study of Australian Children (LSAC). Although up to 26% of children no longer had parent-reported ASD after 6-years follow up, persisting or late trajectories were more common. The outcome of late onset trajectories requires ongoing review. Autism Res 2021, 14: 773-786. © 2021 International Society for Autism Research and Wiley Periodicals LLC.


Assuntos
Transtorno do Espectro Autista , Transtorno Autístico , Austrália , Transtorno do Espectro Autista/diagnóstico , Criança , Humanos , Estudos Longitudinais , Pais , Estudos Prospectivos
18.
Eur J Hum Genet ; 29(4): 564-574, 2021 04.
Artigo em Inglês | MEDLINE | ID: mdl-33293697

RESUMO

Communication difficulties are a core feature of Phelan-McDermid syndrome (PMS). However, a specific speech and language phenotype has not been delineated, preventing prognostic counselling and development of targeted therapies. We examined speech, language, social and functional communication abilities in 21 individuals with PMS (with SHANK3 involvement), using standardised assessments. Mean age was 9.7 years (SD 4.1) and 57% were female. Deletion size ranged from 41 kb to 8.3 Mb. Nine participants (45%) were non-verbal. Four (19%) had greater verbal ability, speaking in at least 4-5 word sentences, but with speech sound errors. Standard scores for receptive and expressive language were low (typically >3 SD below the mean). Language age equivalency was 13-16 months on average (range 2-53 months). There was a significant association between deletion size and the ability to use phrases. Participants with smaller deletion sizes were more likely to be able to use phrases (odds ratio: 0.36, 95% CI: 0.14-0.95, p = 0.040). Adaptive behaviour (life skills) was low in all areas (>2 SD below mean). Scores in communication were markedly lower than for daily living (p = 0.008) and socialisation (p < 0.001). A common linguistic profile was characterised by severe impairment across receptive, expressive and social language domains. Yet data indicated greater communicative intent than appeared to be capitalised by current therapies. Early implementation of augmentative (e.g. computer-assisted) modes of communication, alongside promotion of oral language, is essential to harness this intent, accelerate language development and reduce frustration. Future trials should examine the added benefit of targeted speech motor interventions in those with greater verbal capacity.


Assuntos
Transtornos Cromossômicos/genética , Desenvolvimento da Linguagem , Adolescente , Criança , Pré-Escolar , Deleção Cromossômica , Transtornos Cromossômicos/patologia , Cromossomos Humanos Par 22/genética , Feminino , Humanos , Masculino , Proteínas do Tecido Nervoso/genética , Fenótipo , Comportamento Social
19.
J Commun Disord ; 87: 106033, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-32877838

RESUMO

PURPOSE: To investigate the latent factors underlying signs of childhood apraxia of speech (CAS) in a group of 57 children with CAS. METHOD: The speech of 57 children with CAS (aged 3;5-17;0) was coded for signs of CAS. All participants showed at least five signs of CAS and were judged to have CAS by speech pathologists experienced in pediatric speech disorders. Participants were selected to represent a range of severity of CAS: 30 children were verbal and 27 were minimally verbal with comorbid autism. Participants' scores for each sign (the number of times that sign appeared during a child's speech sample) were converted to z-scores, then entered as variables into an exploratory factor analysis. Models were compared using the Akaike Information Criterion (AIC). RESULTS: The three-factor model had the lowest AIC and best fit the data. After oblique rotation, syllable segmentation, slow rate, and stress errors loaded most highly on Factor 1. Groping, addition of phonemes other than schwa, and difficulty with coarticulation loaded most highly on Factor 2. Variable errors loaded most highly on Factor 3. Thus, factors were interpreted as being associated with (1) prosody, (2) coarticulation, and (3) inconsistency. CONCLUSIONS: Results are consistent with the three consensus criteria for CAS from the American Speech-Language-Hearing Association: Inappropriate prosody, disrupted coarticulatory transitions, and inconsistent errors on repeated tokens. High loading of the syllable segmentation sign on the inappropriate prosody factor also supports the use of a pause-related biomarker for CAS.


Assuntos
Apraxias , Distúrbios da Fala , Patologia da Fala e Linguagem , Adolescente , Apraxias/diagnóstico , Criança , Pré-Escolar , Análise Fatorial , Humanos , Fala , Distúrbios da Fala/diagnóstico
20.
Int J Lang Commun Disord ; 55(4): 537-546, 2020 07.
Artigo em Inglês | MEDLINE | ID: mdl-32374456

RESUMO

BACKGROUND: Congenital hearing loss is the most common birth anomaly, typically influencing speech and language development, with potential for later academic, social and employment impacts. Yet, surprisingly, the nuances of how speech is affected have not been well examined with regards to the subtypes of speech-sound disorder (SSD). Nor have the predictors of speech outcome been investigated within a sizeable population cohort. AIMS: (1) To describe the subtypes and prevalence of SSD in children with hearing loss. (2) To determine which characteristics of hearing loss predict the presence of SSD. METHODS & PROCEDURES: A total of 90 children (5-12 years of age) with permanent hearing loss were recruited from an Australian population cohort. Children completed a standardized speech assessment to determine the presence and subtype of SSD. Logistic regression was used to determine the predictors of speech outcome. Demographic, developmental and hearing-related predictors were examined. OUTCOMES & RESULTS: The prevalence of speech disorder overall was 58%, with the most common subtype being phonological delay in 49% of the sample. Factors most predictive of speech disorder were being male, younger and a bimodal user (i.e., using both a hearing aid and a cochlear implant). CONCLUSIONS & IMPLICATIONS: This is the first study, in a sizeable cohort, to describe the prevalence and predictive factors for SSD associated with hearing loss. Clinically, it could be beneficial to implement earlier targeted phonological interventions for children with hearing loss. What this paper adds What is already known on this subject Speech issues are common in children with hearing loss; however, the breakdown of subtypes of SSD (e.g., articulation versus phonological disorder) have not been previously described in a population cohort. This distinction is relevant, as each subtype calls for specific targeted intervention. Studies examining factors predictive of speech outcomes, across a range of hearing levels, are also lacking in a population cohort. What this paper adds to existing knowledge Data suggest the most common type of SSD in children with hearing loss is phonological delay. Males, younger children, and bimodal users were at greater risk of having a subtype of SSD. What are the potential or actual clinical implications of this work? The results are clinically pertinent as the speech diagnosis determines the targeted treatment. Phonological delay is responsive to treatment, and early targeted intervention may improve prognosis for speech outcomes for children with hearing loss.


Assuntos
Perda Auditiva/congênito , Transtorno Fonológico/epidemiologia , Criança , Pré-Escolar , Feminino , Perda Auditiva/complicações , Humanos , Masculino , Prevalência , Índice de Gravidade de Doença , Transtorno Fonológico/diagnóstico , Transtorno Fonológico/etiologia
SELEÇÃO DE REFERÊNCIAS
DETALHE DA PESQUISA
...