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1.
J Med Internet Res ; 23(1): e22619, 2021 01 20.
Artigo em Inglês | MEDLINE | ID: mdl-33326409

RESUMO

BACKGROUND: In response to COVID-19, there has been increasing momentum in telehealth development and delivery. To assess the anticipated exponential growth in telehealth, it is important to accurately capture how telehealth has been used in specific mental health fields prior to the pandemic. OBJECTIVE: This systematic review aimed to highlight how telehealth has been used with clinical samples in the neurodevelopmental field, including patients with neurodevelopmental disorders (NDDs), their families, and health care professionals. To identify which technologies show the greatest potential for implementation into health services, we evaluated technologies for effectiveness, economic impact, and readiness for clinical adoption. METHODS: A systematic search of literature was undertaken in April 2018 and updated until December 2019, by using the Medline, Web of Science, Scopus, CINAHL Plus, EMBASE, and PsycInfo databases. Extracted data included the type of technology, how the technology was used (ie, assessment, treatment, and monitoring), participant characteristics, reported outcomes and authors' views on clinical effectiveness, user impact (ie, feasibility and acceptability), economic impact, and readiness for clinic adoption. A quality review of the research was performed in accordance with the Oxford Centre for Evidence-Based Medicine Levels of Evidence. RESULTS: A total of 42 studies met the inclusion criteria. These studies included participants and family members with autism spectrum disorders (21/42, 50%), attention deficit hyperactivity disorders (8/42, 19%), attention deficit hyperactivity or autism spectrum disorders (3/42, 7%), communication disorders (7/42, 17%), and tic disorders (2/42, 5%). The focus of most studies (33/42, 79%) was on treatment, rather than assessment (4/42, 10%) or monitoring (5/42, 12%). Telehealth services demonstrated promise for being clinically effective, predominantly in relation to diagnosing and monitoring NDDs. In terms of NDD treatment, telehealth services were usually equivalent to control groups. There was some evidence of positive user and economic impacts, including increased service delivery efficiency (eg, increased treatment availability and decreased waiting times). However, these factors were not widely recorded across the studies. Telehealth was demonstrated to be cost-effective in the few studies that considered cost-effectiveness. Study quality varied, as many studies had small sample sizes and inadequate control groups. Of the 42 studies, only 11 (26%) were randomized controlled trials, 12 (29%) were case studies or case series, 6 (14%) were qualitative studies, and 5 (12%) were noncomparative trials. CONCLUSIONS: Telehealth has the potential to increase treatment availability, decrease diagnosis waiting times, and aid in NDD monitoring. Further research with more robust and adequately powered study designs that consider cost-effectiveness and increased efficiency is needed. This systematic review highlights the extent of telehealth technology use prior to the COVID-19 pandemic and the movement for investing in remote access to treatments. TRIAL REGISTRATION: PROSPERO International Prospective Register of Systematic Reviews CRD42018091156; https://www.crd.york.ac.uk/prospero/display_record.php?ID=CRD42018091156.


Assuntos
Monitorização Fisiológica/métodos , Transtornos do Neurodesenvolvimento/terapia , Telemedicina/métodos , Feminino , Humanos , Masculino , Transtornos do Neurodesenvolvimento/epidemiologia , Pesquisa Qualitativa
5.
Rev. neurol. (Ed. impr.) ; 71(5): 191-196, 1 sept., 2020. ilus
Artigo em Espanhol | IBECS | ID: ibc-195469

RESUMO

El estrés que la pandemia de coronavirus ha producido en los servicios sanitarios, y la interferencia que ha ocasionado en la atención al resto de patologías y su seguimiento en consultas nos han llevado a impulsar e incorporar la telemedicina en nuestra práctica médica habitual. La telemedicina es la asistencia médica a distancia o no presencial, un nuevo método de administrar atención médica por parte de profesionales acreditados, que optimiza los recursos y aumenta su alcance. Un inconveniente para la teleneurología infantil es la necesidad para nuestros diagnósticos de una observación directa del niño y de una exploración en forma de juego. Principalmente en las etapas más infantiles, un paciente nuevo evaluado por telemedicina puede ser más difícil de diagnosticar y manejar y, por ello, algunos neuropediatras han optado por realizar sólo visitas de seguimiento, de manejo de medicamentos y de revisión de resultados. Pero la telemedicina tiene otros muchos beneficios: posibilidad de asesoramiento rápido, de coordinación interprofesional y de llegar donde y cuando la medicina clásica lo tiene más difícil. El objetivo de este artículo es revisar las posibles indicaciones de la telemedicina en neurología infantil, partiendo de la base de que nunca deberíamos demorar el diagnóstico de lo que tenga tratamiento, tanto en el momento actual como en una eventual situación de rebrote de la pandemia. El avance de la telemedicina dependerá de la implementación tecnológica, de resolver los problemas legales y de seguridad/privacidad, de sus resultados clínicos, y de la demanda y aceptación por los pacientes de estas visitas virtuales


The stress that the coronavirus pandemic has produced on the health services and the disruption it has caused in the care of other pathologies and their follow-up in outpatient visits have led us to promote and incorporate telemedicine in our routine medical practice. Telemedicine refers to remote or non-face-to-face medical attention, a new method of administering medical care by accredited professionals, which optimises resources and increases their scope. One drawback for child teleneurology is that our diagnoses require direct observation of the child and carrying out an examination as though playing a game. Mainly in the youngest stages, a new patient evaluated by telemedicine can be more difficult to diagnose and manage, and therefore some neuropaediatricians have chosen to carry out only follow-up visits, medication management and outcome reviews. Telemedicine, however, also has many benefits, such as the possibility of giving rapid advice, coordination among professionals and reaching the patient where and when it is difficult for classical medicine to do so. The aim of this article is to review the possible indications of telemedicine in child neurology, starting out from the fact that we should never delay the diagnosis of something that can be treated, both at the present time and in an eventual situation of resurgence of the pandemic. The advance of telemedicine will depend on the implementation of technology, on solving legal and security/privacy issues, on its clinical outcomes and on the extent to which patients demand and accept these virtual visits


Assuntos
Humanos , Criança , Consulta Remota/métodos , Telemedicina/métodos , Transtornos do Neurodesenvolvimento/diagnóstico , Transtornos do Neurodesenvolvimento/terapia , Assistência à Saúde/organização & administração , Epilepsia/terapia , Cefaleia/terapia , Transtorno do Deficit de Atenção com Hiperatividade/terapia , Transtornos do Sono-Vigília/terapia , Doenças Neuromusculares , Paralisia Cerebral
6.
Clin Neuropsychol ; 34(7-8): 1367-1379, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-32787508

RESUMO

Objective: As the coronavirus pandemic extends across the globe, the impacts have been felt across domains of industry. Neuropsychology services are no exception. Methods for neuropsychological assessments, which typically require an in-person visit, must be modified in order to adhere to social distancing and isolation standards enacted in an effort to slow the pandemic. How can providers continue to meet the needs of patients referred for neuropsychology evaluations, while respecting federal and state guidelines for safety and ethical mandates? We offer a novel, tiered model of care, successfully implemented in response to mandated social distancing, in a large, pediatric neuropsychology program.Method: We describe the considerations and challenges to be addressed in transitioning a large neuropsychology department to a new model of care, including triaging referrals, developing -or rediscovering - types of services to meet the needs of a virtual patient population, and helping patients, parents, and providers to adjust to these new models.Conclusions: Lessons learned as a function of rapid changes in care models have implications for the field of neuropsychology as a whole as well as for future flexibility in meeting the needs of pediatric patients and their families.


Assuntos
Infecções por Coronavirus/terapia , Transtornos do Neurodesenvolvimento/terapia , Testes Neuropsicológicos , Neuropsicologia/tendências , Telemedicina/tendências , Criança , Infecções por Coronavirus/epidemiologia , Humanos , Transtornos do Neurodesenvolvimento/epidemiologia , Transtornos do Neurodesenvolvimento/psicologia , Neuropsicologia/métodos , Pais/psicologia , Telemedicina/métodos
7.
PLoS One ; 15(7): e0236488, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-32716925

RESUMO

BACKGROUND: Long term outcomes of children with neurodevelopmental disability are influenced by the condition itself, available health services and caretakers' coping ability to nurture the children which may be related to their beliefs and experiences. Most children with neurodevelopmental disabilities live in resource constrained settings. To inform design of contextually appropriate interventions, this study explored health workers' and caretakers' experiences in caring for infants with neurodevelopmental disability in rural eastern Uganda. METHODS: A qualitative case study was carried out in December 2017 and involved in-depth interviews with 14 caretakers of infants with severe neurodevelopmental disability, and five health workers in Iganga/Mayuge Demographic Surveillance Site in eastern Uganda. The interviews with caretakers were conducted in Lusoga, the local language, and in English for the health workers, using a pre-determined open-ended interview guide. Data were analyzed using latent content analysis. RESULTS: Caretakers described the experience of caring for children with neurodevelopmental disability as impoverishing and 'imprisoning' due to high care costs, inability to return to income generating activities and nursing challenges. The latter resulted from failure in body control and several aspects of nutrition and maintaining vital functions, coupled with limited support from the community and the health system. Many caretakers expressed beliefs in supernatural causes of neurodevelopmental disability though they reported about complications during and shortly after the birth of the affected child. Care-seeking was often challenging and impeded by costs and the feeling of lack of improvement. The health care system was also found to be incapable of adequately addressing the needs of such children due to lack of commodities, and human resource limitations. CONCLUSION: The caretakers expressed a feeling of emotional stress due to being left alone with a high nursing burden. Improvement in the health services including a holistic approach to care, improved community awareness and parental support could contribute to nursing of children with NDD.


Assuntos
Cuidadores , Cuidado da Criança , Pessoas com Deficiência , Pessoal de Saúde , Transtornos do Neurodesenvolvimento/terapia , População Rural , Criança , Comunicação , Seguimentos , Humanos , Percepção , Apoio Social , Uganda
8.
Public Health Rep ; 135(5): 599-610, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-32645279

RESUMO

OBJECTIVE: We estimated the caseload of providers, practices, and clinics for psychosocial services (including psychotherapy) to Medicaid-insured children to improve the understanding of the current supply of such services and to inform opportunities to increase their accessibility. METHODS: We used 2012-2013 Medicaid claims data and data from the 2013 National Plan and Provider Enumeration System to identify and locate therapists, psychiatrists, and mental health centers along with primary, rehabilitative, and developmental care providers in the United States who provided psychosocial services to Medicaid-insured children. We estimated the per-provider, per-location, and state-level caseloads of providers offering these services to Medicaid-insured children in 34 states with sufficiently complete data to perform this analysis, by using the most recent year of Medicaid claims data available for each state. We measured caseload by calculating the number of psychosocial visits delivered by each provider in the selected year. We compared caseloads across states, urbanicity, provider specialty (eg, psychiatry, psychology, primary care), and practice setting (eg, mental health center, single practitioner). RESULTS: We identified 63 314 providers, practices, or centers in the Medicaid claims data that provided psychosocial services to Medicaid-insured children in either 2012 or 2013. The median provider-level per-year caseload was <25 children and <250 visits across all provider types. Providers with a mental health center-related taxonomy accounted for >40% of visits for >30% of patients. Fewer than 10% of providers and locations accounted for >50% of patients and visits. CONCLUSIONS: Psychosocial services are concentrated in a few locations, thereby reducing geographic accessibility of providers. Providers should be incentivized to offer care in more locations and to accept more Medicaid-insured patients.


Assuntos
Acesso aos Serviços de Saúde/estatística & dados numéricos , Hospitais Pediátricos/estatística & dados numéricos , Hospitais Psiquiátricos/estatística & dados numéricos , Medicaid/estatística & dados numéricos , Transtornos do Neurodesenvolvimento/terapia , Atenção Primária à Saúde/estatística & dados numéricos , Reabilitação Psiquiátrica/estatística & dados numéricos , Adolescente , Criança , Pré-Escolar , Feminino , Humanos , Lactente , Recém-Nascido , Masculino , Transtornos do Neurodesenvolvimento/epidemiologia , Estados Unidos/epidemiologia
10.
Artigo em Inglês | MEDLINE | ID: mdl-32545534

RESUMO

Self-regulation refers to the ability to control and modulate behavior, and it can include both emotional and cognitive modulation. Children with neurodevelopmental disorders may show difficulties in self-regulation. The main objective of this study is to improve self-regulation skills in children between 6 and 11 years of age with neurodevelopmental disorders. Methodology: A randomized controlled trial will be conducted with the use of "SR-MRehab: Un colegio emocionante", based on a non-immersive virtual reality system where virtual objects can be managed by children in a natural way using their hands. Children will be recruited from several schools of Granada (Spain) and they will be randomly allocated to two groups. An assessment will be conducted before and after the intervention and 24 weeks after the end of the intervention process. The experimental group will receive the intervention using virtual reality. The control group will receive a standard self-regulation program. Both interventions will be performed once a week for a total of 10 sessions. Changes in self-regulation, as well as the acceptability of technology with the use of SR-MRehab, will be evaluated. The results will be published and will provide evidence regarding the use of this type of intervention in children with neurodevelopmental disorders. Trial registration: Registered with code NCT04418921.


Assuntos
Transtornos do Neurodesenvolvimento , Autocontrole , Realidade Virtual , Criança , Emoções , Humanos , Transtornos do Neurodesenvolvimento/terapia , Espanha
11.
Pediatrics ; 146(1)2020 07.
Artigo em Inglês | MEDLINE | ID: mdl-32581000

RESUMO

CONTEXT: More than 4 decades of research indicate that parenting interventions are effective at preventing and treating mental, emotional, and behavioral disorders in children and adolescents. Pediatric primary care is a viable setting for delivery of these interventions. OBJECTIVE: Previous meta-analyses have shown that behavioral interventions in primary care can improve clinical outcomes, but few reviews have been focused specifically on the implementation of parenting interventions in primary care. We aimed to fill this gap. DATA SOURCES: We reviewed 6532 unique peer-reviewed articles published in PubMed, the Cumulative Index to Nursing and Allied Health Literature, and PsycInfo. STUDY SELECTION: Articles were included if at least part of the intervention was delivered in or through primary care; parenting was targeted; and child-specific mental, emotional, and behavioral health outcomes were reported. DATA EXTRACTION: Articles were reviewed in Covidence by 2 trained coders, with a third coder arbitrating discrepancies. RESULTS: In our review of 40 studies, most studies were coded as a primary. Few researchers collected implementation outcomes, particularly those at the service delivery system level. LIMITATIONS: Including only published articles could have resulted in underrepresentation of implementation-related data. CONCLUSIONS: Parenting interventions delivered and implemented with fidelity in pediatric primary care could result in positive and equitable impacts on mental, emotional, and behavioral health outcomes for both parents and their children. Future research on the implementation strategies that can support adoption and sustained delivery of parenting interventions in primary care is needed if the field is to achieve population-level impact.


Assuntos
Transtornos do Neurodesenvolvimento/terapia , Poder Familiar , Pais/psicologia , Atenção Primária à Saúde/organização & administração , Criança , Humanos , Transtornos do Neurodesenvolvimento/psicologia
12.
Pediatrics ; 145(6)2020 06.
Artigo em Inglês | MEDLINE | ID: mdl-32393605

RESUMO

BACKGROUND AND OBJECTIVES: Emergency department (ED) visits for children seeking mental health care have increased. Few studies have examined national patterns and characteristics of EDs that these children present to. In data from the National Pediatric Readiness Project, it is reported that less than half of EDs are prepared to treat children. Our objective is to describe the trends in pediatric mental health visits to US EDs, with a focus on low-volume, nonmetropolitan EDs, which have been shown to be less prepared to provide pediatric emergency care. METHODS: Using 2007 to 2016 Nationwide Emergency Department Sample databases, we assessed the number of ED visits made by children (5-17 years) with a mental health disorder using descriptive statistics. ED characteristics included pediatric volume, children's ED classification, and location. RESULTS: Pediatric ED visits have been stable; however, visits for deliberate self-harm increased 329%, and visits for all mental health disorders rose 60%. Visits for children with a substance use disorder rose 159%, whereas alcohol-related disorders fell 39%. These increased visits occurred among EDs of all pediatric volumes, regardless of children's ED classification. Visits to low-pediatric-volume and nonmetropolitan areas rose 53% and 41%, respectively. CONCLUSIONS: Although the total number of pediatric ED visits has remained stable, visits among children with mental health disorders have risen, particularly among youth presenting for deliberate self-harm and substance abuse. The majority of these visits occur at nonchildren's EDs in both metropolitan and nonurban settings, which have been shown to be less prepared to provide higher-level pediatric emergency care.


Assuntos
Serviços Médicos de Emergência/tendências , Serviço Hospitalar de Emergência/tendências , Saúde Mental/tendências , Transtornos do Neurodesenvolvimento/terapia , Medicina de Emergência Pediátrica/tendências , Adolescente , Criança , Pré-Escolar , Bases de Dados Factuais/tendências , Serviços Médicos de Emergência/métodos , Feminino , Humanos , Masculino , Transtornos do Neurodesenvolvimento/diagnóstico , Transtornos do Neurodesenvolvimento/epidemiologia , Medicina de Emergência Pediátrica/métodos , Estados Unidos/epidemiologia
13.
PLoS Genet ; 16(4): e1008653, 2020 04.
Artigo em Inglês | MEDLINE | ID: mdl-32324743

RESUMO

Neural stem cells (NSCs) are crucial for development, regeneration, and repair of the nervous system. Most NSCs in mammalian adult brains are quiescent, but in response to extrinsic stimuli, they can exit from quiescence and become reactivated to give rise to new neurons. The delicate balance between NSC quiescence and activation is important for adult neurogenesis and NSC maintenance. However, how NSCs transit between quiescence and activation remains largely elusive. Here, we discuss our current understanding of the molecular mechanisms underlying the reactivation of quiescent NSCs. We review recent advances on signaling pathways originated from the NSC niche and their crosstalk in regulating NSC reactivation. We also highlight new intrinsic paradigms that control NSC reactivation in Drosophila and mammalian systems. We also discuss emerging evidence on modeling human neurodevelopmental disorders using NSCs.


Assuntos
Células-Tronco Neurais/citologia , Células-Tronco Neurais/metabolismo , Transtornos do Neurodesenvolvimento/patologia , Transdução de Sinais , Animais , Drosophila melanogaster/citologia , Drosophila melanogaster/metabolismo , Humanos , Insulina/metabolismo , Transtornos do Neurodesenvolvimento/terapia , Nicho de Células-Tronco
14.
Behav Ther ; 51(1): 27-41, 2020 01.
Artigo em Inglês | MEDLINE | ID: mdl-32005338

RESUMO

Sleep problems are common in school-age children and linked to numerous negative outcomes. Sleep disturbances are particularly common in children with mental health disorders, such as attention-deficit/hyperactivity disorder, depression, and anxiety. Despite frequent use of nonpharmacological pediatric sleep interventions to treat common sleep problems, there is a paucity of research on whether these interventions are effective. Further, it is unclear whether by targeting sleep, these interventions lead to broader improvements in the domains of functioning that are commonly affected by poor sleep. The present review includes 20 studies that evaluated nonpharmacological sleep treatments for school-aged youth, including 5 studies specifically focused on youth with externalizing or internalizing problems. Multimodal approaches consisting of psychoeducation and sleep hygiene in combination with other components were effective at treating insomnia and general sleep problems in typically developing samples. The addition of behavioral parent training to sleep interventions was effective for youth with externalizing problems, whereas incorporating cognitive strategies into sleep interventions for youth with internalizing problems was found to be ineffective. A variety of secondary outcomes were examined, with the strongest support emerging for improvement in anxiety and behavioral problems. Implications for clinical practice and future research directions are discussed.


Assuntos
Saúde Mental , Transtornos do Neurodesenvolvimento/epidemiologia , Transtornos do Neurodesenvolvimento/terapia , Transtornos do Sono-Vigília/epidemiologia , Transtornos do Sono-Vigília/terapia , Sono/fisiologia , Adolescente , Criança , Comorbidade , Feminino , Humanos , Masculino , Transtornos do Neurodesenvolvimento/psicologia , Transtornos do Sono-Vigília/psicologia , Resultado do Tratamento
15.
Behav Ther ; 51(1): 69-84, 2020 01.
Artigo em Inglês | MEDLINE | ID: mdl-32005341

RESUMO

Cognitive behavioral therapy (CBT) is an efficacious treatment for child anxiety disorders, but 40%-50% of youth do not respond fully to treatment, and time commitments for standard CBT can be prohibitive for some families and lead to long waiting lists for trained CBT therapists in the community. SmartCAT 2.0 is an adjunctive mobile health program designed to improve and shorten CBT treatment for anxiety disorders in youth by providing them with the opportunity to practice CBT skills outside of session using an interactive and gamified interface. It consists of an app and an integrated clinician portal connected to the app for secure 2-way communication with the therapist. The goal of the present study was to evaluate SmartCAT 2.0 in an open trial to establish usability, feasibility, acceptability, and preliminary efficacy of brief (8 sessions) CBT combined with SmartCAT. We also explored changes in CBT skills targeted by the app. Participants were 34 youth (ages 9-14) who met DSM-5 criteria for generalized, separation, and/or social anxiety disorder. Results demonstrated strong feasibility and usability of the app/portal and high satisfaction with the intervention. Youth used the app an average of 12 times between each therapy session (M = 5.8 mins per day). At posttreatment, 67% of youth no longer met diagnostic criteria for an anxiety disorder, with this percentage increasing to 86% at 2-month follow-up. Youth showed reduced symptom severity over time across raters and also improved from pre- to posttreatment in CBT skills targeted by the app, demonstrating better emotion identification and thought challenging and reductions in avoidance. Findings support the feasibility of combining brief CBT with SmartCAT. Although not a controlled trial, when benchmarked against the literature, the current findings suggest that SmartCAT may enhance the utility of brief CBT for childhood anxiety disorders.


Assuntos
Transtornos de Ansiedade/terapia , Terapia Cognitivo-Comportamental/tendências , Aplicativos Móveis/tendências , Transtornos do Neurodesenvolvimento/terapia , Portais do Paciente/tendências , Telemedicina/tendências , Adolescente , Transtornos de Ansiedade/psicologia , Criança , Terapia Cognitivo-Comportamental/métodos , Feminino , Seguimentos , Humanos , Masculino , Transtornos do Neurodesenvolvimento/psicologia , Smartphone/tendências , Telemedicina/métodos , Resultado do Tratamento
16.
Medicine (Baltimore) ; 99(1): e18611, 2020 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-31895812

RESUMO

BACKGROUND: This systematic review protocol aims to examine the evidence of effectiveness and cost-effectiveness of interventions for children and adolescents with, or at risk of developing mental disorders in low- and middle-income countries (LAMICs). METHODS: We will search Medline Ovid, EMBASE Ovid, PsycINFO Ovid, CINAHL, LILACS, BDENF and IBECS. We will include randomised and non-randomised controlled trials, economic modelling studies and economic evaluations. Participants are 6 to 18 year-old children and adolescents who live in a LAMIC and who present with, or are at high risk of developing, one or more of the conditions: depression, anxiety, behavioural disorders, eating disorders, psychosis, substance abuse, autism and intellectual disabilities as defined by the DSM-V. Interventions which address suicide, self-harm will also be included, if identified during the extraction process. We will include in person or e-health interventions which have some evidence of effectiveness (in relation to clinical and/or functional outcomes) and which have been delivered to young people in LAMICs. We will consider a wide range of delivery channels (e.g., in person, web-based or virtual, phone), different practitioners (healthcare practitioners, teachers, lay health care providers) and sectors (i.e., primary, secondary and tertiary health care, education, guardianship councils). In the pilot of screening procedures, 5% of all references will be screened by two reviewers. Divergences will be resolved by one expert in mental health research. Reviewers will be retrained afterwards to ensure reliability. The remaining 95% will be screened by one reviewer. Covidence web-based tool will be used to perform screening of references and full text paper, and data extraction. RESULTS: The protocol of this systematic review will be disseminated in a peer-reviewed journal and presented at relevant conferences. The results will be presented descriptively and, if possible, meta-analysis will be conducted. Ethical approval is not needed for anonymised secondary data. CONCLUSION: the systematic review could help health specialists and other professionals to identify evidence-based strategies to deal with child and adolescents with mental health conditions.


Assuntos
Países em Desenvolvimento , Transtornos do Neurodesenvolvimento/terapia , Criança , Humanos , Transtornos do Neurodesenvolvimento/economia , Revisões Sistemáticas como Assunto
17.
Autism Res ; 13(1): 11-17, 2020 01.
Artigo em Inglês | MEDLINE | ID: mdl-31490639

RESUMO

Angelman syndrome (AS) is a rare neurodevelopmental disorder caused by mutation or deletion of the maternally inherited UBE3A allele. These pathogenic mutations lead to loss of maternal UBE3A expression in neurons. Antisense oligonucleotides and gene therapies are in development, which activate the intact but epigenetically silenced paternal UBE3A allele. Preclinical studies indicate that treating during the prenatal period could greatly reduce the severity of symptoms or prevent AS from developing. Genetic tests can detect the chromosome 15q11-q13 deletion that is the most common cause of AS. New, highly sensitive noninvasive prenatal tests that take advantage of single-cell genome sequencing technologies are expected to enter the clinic in the coming years and make early genetic diagnosis of AS more common. Efforts are needed to identify fetuses and newborns with maternal 15q11-q13 deletions and to phenotype these babies relative to neurotypical controls. Clinical and parent observations suggest AS symptoms are detectable in infants, including reports of problems with feeding and motor function. Quantitative phenotypes in the 0- to 1-year age range will permit a more rapid assessment of efficacy when future treatments are administered prenatally or shortly after birth. Although prenatal therapies are currently not available for AS, prenatal testing combined with prenatal treatment has the potential to revolutionize how clinicians detect and treat babies before they are symptomatic. This pioneering prenatal treatment path for AS will lay the foundation for treating other syndromic neurodevelopmental disorders. Autism Res 2020, 13: 11-17. © 2019 International Society for Autism Research, Wiley Periodicals, Inc. LAY SUMMARY: Prenatal treatment could benefit expectant parents whose babies test positive for the chromosome microdeletion that causes Angelman syndrome (AS). Prenatal treatment is predicted to have better outcomes than treating after symptoms develop and may even prevent AS altogether. This approach could generally be applied to the treatment of other syndromic neurodevelopmental disorders.


Assuntos
Síndrome de Angelman/terapia , Testes Genéticos/métodos , Terapia Genética/métodos , Transtornos do Neurodesenvolvimento/diagnóstico , Transtornos do Neurodesenvolvimento/terapia , Diagnóstico Pré-Natal/métodos , Síndrome de Angelman/diagnóstico , Síndrome de Angelman/genética , Feminino , Humanos , Transtornos do Neurodesenvolvimento/genética , Gravidez
18.
Eur Child Adolesc Psychiatry ; 29(7): 929-934, 2020 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-31542793

RESUMO

Non-attendance of mental health service appointments is an international problem. In the UK, for example, the estimated cost of non-attendance in child mental health services is over £45 million (US dollar 60.94 million) per annum. The objective of this study was to examine whether there were service- and practitioner-level variation in non-consensual dropout in child mental health services. This was an analysis of routinely collected data. Service-level variation (as services covered different geographic areas) and practitioner-level variation were examined in N = 3622 children (mean age 12.70 years; SD 3.62, 57% female, 50% white or white British) seen by 896 practitioners across 39 services. Overall, 35% of the variation in non-consensual dropout was explained at the service level and 15% at the practitioner level. Children were almost four times more likely to drop out depending on which service they attended (median odds ratio = 3.92) and were two-and-a-half times more likely to drop out depending on which practitioner they saw (median odds ratio = 2.53). These levels of variation were not explained by levels of deprivation in areas covered by services or by children's demographic and case characteristics. The findings of the present research may suggest that, beyond service-level variation, there is also practitioner-level variation in non-consensual dropout in child mental health services.


Assuntos
Serviços de Saúde Mental/normas , Transtornos do Neurodesenvolvimento/terapia , Criança , Feminino , Humanos , Masculino
19.
J Pediatr ; 217: 52-58.e1, 2020 02.
Artigo em Inglês | MEDLINE | ID: mdl-31606151

RESUMO

OBJECTIVE: To assess the outcomes in actively managed extremely preterm infants after admission to a neonatal intensive care unit. STUDY DESIGN: Retrospective cohort of 255 infants born at 22-25 weeks of gestation between 2006 and 2015 at a single study institution. Infants were excluded for congenital anomaly, death in delivery room, or parental request for palliation (n = 7). Neurodevelopmental outcomes were analyzed for 169 of 214 survivors (78.9%) at 18-22 months of corrected age. Outcomes were evaluated using the Mann-Whitney U, χ2, or Fisher exact test, where appropriate. In addition, cognitive scores of the Bayley Scales of Infant-Toddler Development (3rd edition) were assessed using generalized estimating equations. RESULTS: Seventy infants born at 22-23 weeks of gestation (22 weeks, n = 20; 23 weeks, n = 50) and 178 infants born at 24-25 weeks of gestation (24 weeks, n = 79; 25 weeks, n = 99 infants) were included. Survival to hospital discharge of those surviving to NICU admission was 78% (55/70; 95% CI, 69%-88%) at 22-23 weeks and 89% (159/178; 95% CI, 84%-93% at 24-25 weeks; P = .02). No or mild neurodevelopmental impairment in surviving infants was 64% (29/45; 95% CI, 50%-77%) at 22-23 weeks and 76% (94/124; 95% CI, 68%-83%; P = .16) at 24-25 weeks. CONCLUSIONS: Although survival was lower in infants born at 22-23 weeks than at 24-25 weeks of gestation, the majority of survivors in both groups had positive outcomes with no or mild neurodevelopmental impairments. Further evaluation of school performance is warranted.


Assuntos
Doenças do Prematuro/terapia , Unidades de Terapia Intensiva Neonatal , Terapia Intensiva Neonatal/organização & administração , Hemorragia Cerebral Intraventricular/diagnóstico , Deficiências do Desenvolvimento/terapia , Enterocolite Necrosante/terapia , Feminino , Seguimentos , Idade Gestacional , Mortalidade Hospitalar , Humanos , Lactente , Lactente Extremamente Prematuro , Masculino , Transtornos do Neurodesenvolvimento/terapia , Sistema de Registros , Retinopatia da Prematuridade/terapia , Estudos Retrospectivos , Centros de Atenção Terciária , Resultado do Tratamento
20.
J Autism Dev Disord ; 50(7): 2540-2555, 2020 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-30864058

RESUMO

This paper compared the effectiveness and efficiency of using computer-assisted instruction (CAI) and teacher-implemented instruction (TII) to teach visual matching skills to students with autism spectrum disorder and/or other developmental disabilities. Four school-aged students participated in this study with an alternating treatment design. The CAI incorporated discrete trial instruction with the gesture-tracking application, while the TII involved traditional one-to-one instruction using flashcards. The results indicated that all students acquired the target matching skills with generalization to similar untaught skills and maintained acquired skills at a high level for up to 5 weeks under both CAI and TII. Both CAI and TII were effective. However, CAI was more efficient than TII in regards to the prompts provided and the duration of instructional sessions. CAI also resulted in more student engagement in independent learning.


Assuntos
Transtorno do Espectro Autista/psicologia , Instrução por Computador/métodos , Estimulação Luminosa/métodos , Estudantes/psicologia , Capacitação de Professores/métodos , Percepção Visual/fisiologia , Transtorno do Espectro Autista/terapia , Criança , Feminino , Generalização Psicológica/fisiologia , Humanos , Masculino , Transtornos do Neurodesenvolvimento/psicologia , Transtornos do Neurodesenvolvimento/terapia , Instituições Acadêmicas
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