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1.
Yonsei Med J ; 61(11): 909-922, 2020 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-33107234

RESUMO

Through this meta-analysis, we sought to examine the prevalence of, risks for, and factors associated with bullying involvement (victimization, perpetration, perpetration-victimization) among students with autism spectrum disorder (ASD). Additionally, we attempted to examine sources of variance in the prevalence and effect sizes of bullying in students with ASD across studies. Systematic database and literature review identified 34 relevant studies (31 for Western countries, three for Eastern countries). Pooled prevalence estimates for victimization, perpetration, and perpetration-victimization in general were 67%, 29%, and 14%, respectively. The risk of victimization in students with ASD was significantly higher than that in typically developing students and students with other disabilities. Further, deficits in social interaction and communication, externalizing symptoms, internalizing symptoms, and integrated inclusive school settings were related to higher victimization, and externalizing symptoms were related to higher perpetration. Finally, moderation analyses revealed significant variations in the pooled prevalences thereof depending on culture, age, school settings, and methodological quality and in the pooled effect sizes according to publication year and methodological quality. Our results highlight needs for bullying intervention for students with ASD, especially those who are younger, are in an inclusive school setting, and have higher social difficulties and externalizing/internalizing symptoms; for intensive research of bullying experiences among students with ASD in Eastern countries; and for efforts to improve the methodological quality of such research.


Assuntos
Transtorno do Espectro Autista/diagnóstico , Bullying/estatística & dados numéricos , Vítimas de Crime/estatística & dados numéricos , Comparação Transcultural , Estudantes/psicologia , Adolescente , Transtorno do Espectro Autista/etnologia , Transtorno do Espectro Autista/psicologia , Bullying/psicologia , Criança , Pré-Escolar , Vítimas de Crime/psicologia , Feminino , Humanos , Relações Interpessoais , Masculino , Prevalência , Estudantes/estatística & dados numéricos , Adulto Jovem
2.
Pediatrics ; 146(5)2020 11.
Artigo em Inglês | MEDLINE | ID: mdl-33093139

RESUMO

Autism spectrum disorder (ASD) is the most common disability-causing neurodevelopmental disorder in childhood. Although inborn errors of metabolism (IEM) are rare causes of ASD, they are significant for several reasons, including implications in genetic counseling and determination of prognosis. In this article, we present a 6-year-old boy who presented to us with ASD and was diagnosed with creatine transporter deficiency. Physical and neurologic examination of this patient had not previously raised suspicion of IEM, but twin pregnancy, prematurity, NICU stay due to necrotizing enterocolitis, transient infantile hypotonia, gross-motor delay, breath-holding spells, and a single febrile seizure complicated the history. MRI revealed mild T2-hyperintensity in posterior periventricular white matter. Further evaluation with magnetic resonance spectroscopy, which showed a decreased creatine peak, led to diagnostic investigations for disorders of creatine metabolism, revealing increased urinary creatine:creatinine ratio and a de novo, novel hemizygous frameshift variant in SLC6A8 Clinicians are advised to maintain a high index of suspicion for IEM and to evaluate patients with ASD for syndromic features. Although current guidelines from relevant organizations differ in their recommendations regarding the necessity and the extent of metabolic screening in ASD, there is a growing trend toward screening for treatable IEM. In this case report, we present challenges and pitfalls in the diagnostic journey for creatine transporter deficiency and underline the significance of a thorough history and physical examination in the evaluation of a child with ASD.


Assuntos
Transtorno do Espectro Autista/genética , Encefalopatias Metabólicas Congênitas/genética , Creatina/deficiência , Doenças em Gêmeos/genética , Mutação da Fase de Leitura , Retardo Mental Ligado ao Cromossomo X/genética , Proteínas do Tecido Nervoso/genética , Proteínas da Membrana Plasmática de Transporte de Neurotransmissores/deficiência , Transtorno do Espectro Autista/diagnóstico , Transtorno do Espectro Autista/tratamento farmacológico , Encéfalo/diagnóstico por imagem , Encefalopatias Metabólicas Congênitas/diagnóstico , Encefalopatias Metabólicas Congênitas/tratamento farmacológico , Criança , Creatina/genética , Creatinina/metabolismo , Doenças em Gêmeos/diagnóstico , Doenças em Gêmeos/tratamento farmacológico , Humanos , Deficiência Intelectual/diagnóstico , Deficiência Intelectual/tratamento farmacológico , Deficiência Intelectual/genética , Masculino , Retardo Mental Ligado ao Cromossomo X/diagnóstico , Retardo Mental Ligado ao Cromossomo X/tratamento farmacológico , Proteínas da Membrana Plasmática de Transporte de Neurotransmissores/genética , Espectroscopia de Prótons por Ressonância Magnética
4.
Annu Int Conf IEEE Eng Med Biol Soc ; 2020: 871-875, 2020 07.
Artigo em Inglês | MEDLINE | ID: mdl-33018123

RESUMO

Autism Spectrum Disorder (ASD) is a heterogeneous neurodevelopmental disorder (NDD) with a high rate of comorbidity. The implementation of eye-tracking methodologies has informed behavioral and neurophysiological patterns of visual processing across ASD and comorbid NDDs. In this study, we propose a machine learning method to predict measures of two core ASD characteristics: impaired social interactions and communication, and restricted, repetitive, and stereotyped behaviors and interests. Our method extracts behavioral features from task performance and eye-tracking data collected during a facial emotion recognition paradigm. We achieved high regression accuracy using a Random Forest regressor trained to predict scores on the SRS-2 and RBS-R assessments; this approach may serve as a classifier for ASD diagnosis.


Assuntos
Transtorno do Espectro Autista , Reconhecimento Facial , Transtorno de Comunicação Social , Adolescente , Transtorno do Espectro Autista/diagnóstico , Emoções , Face , Humanos
5.
Am J Nurs ; 120(10): 30-37, 2020 10.
Artigo em Inglês | MEDLINE | ID: mdl-32976150

RESUMO

Autism spectrum disorder (ASD) is a condition characterized by impaired social communication as well as restricted and repetitive behaviors. It is considered a neurodevelopmental disorder because it is associated with neurologic changes that may begin in prenatal or early postnatal life, alters the typical pattern of child development, and produces chronic signs and symptoms that usually manifest in early childhood and have potential long-term consequences. In past decades, autism was conceptualized as a strictly defined set of behaviors, usually accompanied by intellectual impairment. Today, it is recognized as a spectrum, ranging from mild to severe, in which behaviors vary substantially and the majority of children who fall on the spectrum have average to above average intellectual ability. Here, the authors discuss the risk factors for ASD, its epidemiology, common concurrent conditions, evaluation, diagnosis, treatments, and outcomes.


Assuntos
Transtorno do Espectro Autista/diagnóstico , Transtorno do Espectro Autista/terapia , Adolescente , Adulto , Transtorno do Espectro Autista/epidemiologia , Transtorno do Espectro Autista/etiologia , Centers for Disease Control and Prevention, U.S. , Criança , Pré-Escolar , Comorbidade , Feminino , Humanos , Lactente , Masculino , Programas de Rastreamento , Papel do Profissional de Enfermagem , Fatores de Risco , Estados Unidos/epidemiologia , Adulto Jovem
6.
Tijdschr Gerontol Geriatr ; 51(2)2020 Jun 04.
Artigo em Holandês | MEDLINE | ID: mdl-32951379

RESUMO

Scientific knowledge of autism spectrum disorders (ASD) in older adults is still scarce. Differential diagnosis of ASD and personality disorders is complicated, especially in later life. There is overlap between ASD and personality disorders, both conceptually and descriptively. The manifestation of both disorders is heterogeneous, influenced by age specific factors and characterised by similar behavioural symptoms and the lack of a sound developmental history. In both disorders, age specific changes can exceed adaptive abilities of patients, so ASD and personality disorders may become manifest for the first time in old age. More research is needed to fully understand the relationship between ASD and personality development across the life span. Also, there is a need for assessment instruments for both adults and older people with comorbid mental disorders and personality disorders in particular. As comorbidity of ASD and personality disorders appears to be common, more research should be done into treatment of comorbid personality disorders, also in later life.


Assuntos
Transtorno do Espectro Autista , Transtornos da Personalidade/diagnóstico , Idoso , Idoso de 80 Anos ou mais , Transtorno do Espectro Autista/diagnóstico , Transtorno do Espectro Autista/epidemiologia , Comorbidade , Diagnóstico Diferencial , Humanos , Transtornos da Personalidade/epidemiologia
7.
PLoS Med ; 17(9): e1003207, 2020 09.
Artigo em Inglês | MEDLINE | ID: mdl-32960896

RESUMO

INTRODUCTION: The complex etiology of autism spectrum disorder (ASD) is still unresolved. Preterm birth (<37 weeks of gestation) and its complications are the leading cause of death of babies in the world, and those who survive often have long-term health problems. Length of gestation, including preterm birth, has been linked to ASD risk, but robust estimates for the whole range of gestational ages (GAs) are lacking. The primary objective of this study was to provide a detailed and robust description of ASD risk across the entire range of GAs while adjusting for sex and size for GA. METHODS AND FINDINGS: Our study had a multinational cohort design, using population-based data from medical registries in three Nordic countries: Sweden, Finland, and Norway. GA was estimated in whole weeks based on ultrasound. Children were prospectively followed from birth for clinical diagnosis of ASD. Relative risk (RR) of ASD was estimated using log-binomial regression. Analyses were also stratified by sex and by size for GA. The study included 3,526,174 singletons born 1995 to 2015, including 50,816 (1.44%) individuals with ASD. In the whole cohort, 165,845 (4.7%) were born preterm. RR of ASD increased by GA, from 40 to 24 weeks and from 40 to 44 weeks of gestation. The RR of ASD in children born in weeks 22-31, 32-36, and 43-44 compared to weeks 37-42 were estimated at 2.31 (95% confidence interval [CI] 2.15-2.48; 1.67% vs 0.83%; p-value < 0.001), 1.35 (95% CI 1.30-1.40; 1.08% vs 0.83%; p-value < 0.001), and 1.37 (95% CI 1.21-1.54; 1.74% vs 0.83%; p-value < 0.001), respectively. The main limitation of this study is the lack of data on potential causes of pre- or postterm birth. Also, the possibility of residual confounding should be considered. CONCLUSION: In the current study, we observed that the RR of ASD increased weekly as the date of delivery diverged from 40 weeks, both pre- and postterm, independently of sex and size for GA. Given the unknown etiology of ASD and the lifelong consequences of the disorder, identifying groups of increased risk associated with a potentially modifiable risk factor is important.


Assuntos
Transtorno do Espectro Autista/etiologia , Idade Gestacional , Transtorno do Espectro Autista/diagnóstico , Transtorno do Espectro Autista/metabolismo , Criança , Pré-Escolar , Estudos de Coortes , Feminino , Finlândia/epidemiologia , Humanos , Lactente , Recém-Nascido , Masculino , Noruega/epidemiologia , Fatores de Risco , Suécia/epidemiologia
8.
Pediatrics ; 146(4)2020 10.
Artigo em Inglês | MEDLINE | ID: mdl-32900877

RESUMO

BACKGROUND: Children born preterm are at high risk for autism spectrum disorder (ASD). However, there is still a lack of appropriate developmental markers. In this study, we aim to examine whether early mental performance trajectory is related to ASD outcome in the preterm population. METHODS: The population-based cohort included 414 very preterm survivors born between 2008 and 2014. After excluding children with severe neurosensory impairment, 319 children with available records of developmental quotients before age 2 years were enrolled. The trajectory of mental performance evaluated by using the Bayley Scales of Infant Development across 6, 12, and 24 months of age was analyzed with group-based trajectory modeling. At 5 years of age, the ASD diagnosis was established by using the Autism Diagnostic Observation Schedule and the Autism Diagnostic Interview-Revised. RESULTS: There were 29 children with ASD and 290 children without ASD. The mental performances from age 6 to 24 months could be classified into 3 trajectory patterns: low declining, high declining, and high stable, which corresponded to ASD prevalence at age 5 years of 35%, 9%, and 3%, respectively. ASD odds was 15 times higher in the low-declining group than in the high-stable group (odds ratio 15; 95% confidence interval 3.8-59; P < .001). Through the analysis of multinomial logistic regression, we found that male infants with longer exposure to oxygen therapy whose mothers had lower maternal education levels tended to follow the low-declining trajectory. CONCLUSIONS: The early-life mental trajectory patterns, by using the Bayley Scales of Infant Development, may lead to identification of vulnerable children born preterm for early ASD diagnosis and targeted intervention.


Assuntos
Transtorno do Espectro Autista , Desenvolvimento Infantil , Lactente Extremamente Prematuro , Fatores Etários , Transtorno do Espectro Autista/classificação , Transtorno do Espectro Autista/diagnóstico , Transtorno do Espectro Autista/epidemiologia , Transtorno do Espectro Autista/fisiopatologia , Pré-Escolar , Intervalos de Confiança , Diagnóstico Precoce , Escolaridade , Feminino , Seguimentos , Humanos , Lactente , Recém-Nascido , Modelos Logísticos , Masculino , Razão de Chances , Oxigênio/uso terapêutico , Prevalência , Fatores Sexuais
9.
Pediatrics ; 146(4)2020 10.
Artigo em Inglês | MEDLINE | ID: mdl-32938777

RESUMO

BACKGROUND AND OBJECTIVES: Genetic testing is recommended for individuals with autism spectrum disorder (ASD). Pathogenic yield varies by clinician and/or patient characteristics. Our objectives were to determine the pathogenic yield of genetic testing, the variability in rate of pathogenic results based on subject characteristics, and the percentage of pathogenic findings resulting in further medical recommendations in toddlers with a Diagnostic and Statistical Manual of Mental Disorders, Fifth Edition diagnosis of ASD. METHODS: We conducted a retrospective chart review of 500 toddlers, 18 to 36 months, diagnosed with Diagnostic and Statistical Manual of Mental Disorders, Fifth Edition ASD (mean age: 25.8 months, 79% male). Subject demographics, medical and neuropsychological characteristics, and genetic test results were abstracted. Genetic results were divided into negative or normal, variants of unknown significance, and pathogenic. Subject characteristics were compared across results. Manual chart review determined if further recommendations were made after pathogenic results. RESULTS: Over half of subjects (59.8%, n = 299) completed genetic testing, and of those, 36 (12.0%) had pathogenic findings. There were no significant differences in Bayley Scales of Infant Development cognitive (P = .112), language (P = .898), or motor scores (P = .488) among children with negative or normal findings versus a variant of unknown significance versus pathogenic findings. Medical recommendations in response to the genetic finding were made for 72.2% of those with pathogenic results. CONCLUSIONS: Our findings reinforce the importance of genetic testing for toddlers diagnosed with ASD given the 12% yield and lack of phenotypic differences between subjects with and without pathogenic findings. The majority of pathogenic results lead to further medical recommendations.


Assuntos
Transtorno do Espectro Autista/genética , Testes Genéticos/estatística & dados numéricos , Transtorno do Espectro Autista/diagnóstico , Transtornos Dismórficos Corporais/diagnóstico , Transtornos Dismórficos Corporais/genética , Pré-Escolar , Cromossomos Humanos 13-15 , Cognição , Manual Diagnóstico e Estatístico de Transtornos Mentais , Feminino , Proteína do X Frágil de Retardo Mental/genética , Deleção de Genes , Duplicação Gênica , Testes Genéticos/métodos , Humanos , Lactente , Desenvolvimento da Linguagem , Masculino , Análise em Microsséries , Mosaicismo , Destreza Motora , Mutação , Fenótipo , Encaminhamento e Consulta , Estudos Retrospectivos
10.
Yonsei Med J ; 61(10): 880-890, 2020 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-32975063

RESUMO

PURPOSE: The aim of this study was to investigate differences in language ability and emotional-behavioral problems according to the severity of social communication impairments (SCI) and restricted and repetitive behaviors (RRB) in children with autism spectrum disorders (ASD). MATERIALS AND METHODS: We grouped 113 children with ASD aged 3-12 years according to the severity of SCI and RRB, and investigated language differences and emotional-behavioral problems among the severity groups. If differences in language abilities between the groups were observed, they were further subdivided to examine possible predictors of both receptive and expressive language abilities. RESULTS: In cluster analyses using subdomains of the Autism Diagnostic Interview-revised, severe SCI individuals showed lower language ability than their milder counterparts, while RRB showed no differences. Receptive and expressive language in the severe SCI group was negatively predicted by social communication and social motivation, respectively. The severe RRB group showed significantly higher levels of anxiety/distress, somatic complaints, thought problems, attention problems, and aggressive behavior, while the severe SCI group was reported to be more withdrawn. CONCLUSION: The results of this study suggest that the severity of SCI greatly affects language ability. In children with severe SCI, social communication and social motivation negatively predicted receptive language and expressive language, respectively. Children with severe RRB may have more emotional-behavioral problems that require active intervention.


Assuntos
Sintomas Afetivos/diagnóstico , Sintomas Afetivos/psicologia , Transtorno do Espectro Autista/psicologia , Transtornos do Comportamento Infantil/diagnóstico , Transtornos do Comportamento Infantil/psicologia , Transtornos do Desenvolvimento da Linguagem/diagnóstico , Transtornos do Desenvolvimento da Linguagem/psicologia , Desenvolvimento da Linguagem , Sintomas Afetivos/epidemiologia , Transtorno do Espectro Autista/diagnóstico , Transtorno do Espectro Autista/epidemiologia , Criança , Transtornos do Comportamento Infantil/epidemiologia , Pré-Escolar , Emoções , Feminino , Humanos , Idioma , Transtornos do Desenvolvimento da Linguagem/epidemiologia , Masculino , Comportamento Problema , Índice de Gravidade de Doença
11.
Rev. cuba. estomatol ; 57(3): e3060, jul.-set. 2020. graf
Artigo em Espanhol | LILACS, CUMED | ID: biblio-1126525

RESUMO

RESUMEN Introducción: Durante la odontogénesis se pueden producir malformaciones congénitas que afectan la forma, el número, el tamaño, la estructura, la posición, el color y la erupción de los dientes. En las personas con discapacidades como parálisis cerebral, trastorno del desarrollo intelectual, síndrome de Down y trastorno del espectro autista, pueden presentarse variedad de anomalías dentales. Objetivo: Describir las anomalías dentales en las condiciones de discapacidad de parálisis cerebral, trastorno del desarrollo intelectual, síndrome de Down y trastorno del espectro autista. Métodos: Se realizó una búsqueda bibliográfica en las bases de datos Clinical Key, Medline, Dialnet y SciELO. Se aplicó la lista de comprobación PRISMA. Análisis e integración de la información: Posterior al proceso de lectura y análisis de la información, se recuperaron 800 artículos de las bases de datos, se eliminaron 590 por encontrarse repetidos. Luego de la discriminación, quedaron para revisar 210, a estos restantes se hizo la revisión de texto completo. Se eliminaron 193 no hacían referencia a anomalías dentales y/o a los trastornos o síndromes. De los 17 restantes, solo 15 cumplieron con los criterios de inclusión. Conclusiones: No se encontraron diferencias para afirmar que algunas de las anomalías y alteraciones presentadas correspondan de manera individual a cada tipo de discapacidad. Sin embargo, el síndrome de Down presenta anomalías dentales relacionadas al estado del paciente. La parálisis cerebral reporta otros hallazgos como bruxismo, debido al deficiente desarrollo muscular, lo que afecta la cavidad bucal y sus estructuras(AU)


ABSTRACT Introduction: During odontogenesis, congenital malformations can occur that affect teeth shape, number, size, structure, position, color and eruption. In people with disabilities such as cerebral palsy, intellectual development disorder, Down syndrome, and autism spectrum disorder, a variety of dental abnormalities can occur. Objective: To describe dental anomalies in such disability conditions as cerebral palsy, intellectual development disorder, Down syndrome and autism spectrum disorder. Methods: A bibliographic search was performed in the databases Clinical Key, Medline, Dialnet and SciELO. The PRISMA checklist was applied. Information analysis and integration: After reading and analyzing the information, 800 articles were retrieved from the databases, of which 590 were deleted because they were repeated. After the discrimination, 210 were pending to review; the remaining ones were reviewed full-text. 193 were deleted because they did not do any reference to dental anomalies and/or disorders or syndromes. Of the remaining 17, only 15 met the inclusion criteria. Conclusions: No differences were found to affirm that some of the anomalies and alterations presented correspond individually to each type of disability. However, Down syndrome has dental abnormalities related to patient condition. Cerebral palsy coincides with other findings such as bruxism, due to poor muscle development, which affects the oral cavity and its structures(AU)


Assuntos
Humanos , Anormalidades Dentárias/terapia , Anormalidades Congênitas/diagnóstico , Pessoas com Deficiência , Odontogênese/fisiologia , Literatura de Revisão como Assunto , Bases de Dados Bibliográficas , Síndrome de Down/diagnóstico , Transtorno do Espectro Autista/diagnóstico
12.
Pediatrics ; 146(3)2020 09.
Artigo em Inglês | MEDLINE | ID: mdl-32839243

RESUMO

OBJECTIVES: African American (AA) children affected by autism spectrum disorder (ASD) experience delays in diagnosis and obstacles to service access, as well as a disproportionate burden of intellectual disability (ID) as documented in surveillance data recently published by the US Centers for Disease Control and Prevention. Our objective in this study was to analyze data from the largest-available repository of diagnostic and phenotypic information on AA children with ASD, and to explore the wide variation in outcome within the cohort as a function of sociodemographic risk and specific obstacles to service access for the purpose of informing a national approach to resolution of these disparities. METHODS: Parents of 584 AA children with autism consecutively enrolled in the Autism Genetic Resource Exchange across 4 US data collection sites completed event history calendar interviews of the diagnostic odysseys for their children with ASD. These data were examined in relation to developmental outcomes of the children with autism and their unaffected siblings. RESULTS: The average age of ASD diagnosis was 64.9 months (±49.6), on average 42.3 months (±45.1) after parents' first concerns about their children's development. The relationship between timing of diagnosis and ASD severity was complex, and ID comorbidity was not predicted in a straightforward manner by familial factors associated with cognitive variation in the general population. CONCLUSIONS: These findings document significant opportunity to expedite diagnosis, the need to further understand causes of ID comorbidity, and the necessity to identify effective approaches to the resolution of disparities in severity-of-outcome for AA children with autism.


Assuntos
Afro-Americanos/genética , Transtorno do Espectro Autista/diagnóstico , Transtorno do Espectro Autista/genética , Bases de Dados Genéticas/tendências , Diagnóstico Tardio/tendências , Afro-Americanos/psicologia , Fatores Etários , Transtorno do Espectro Autista/psicologia , Criança , Pré-Escolar , Diagnóstico Tardio/prevenção & controle , Diagnóstico Tardio/psicologia , Feminino , Humanos , Masculino
13.
Eur Eat Disord Rev ; 28(5): 571-579, 2020 09.
Artigo em Inglês | MEDLINE | ID: mdl-32729156

RESUMO

OBJECTIVE: Studies have used the Autism Diagnostic Observation Schedule (the ADOS-2) in individuals with anorexia nervosa (AN), but the patterns of scores have not been assessed. We examined which subset of the ADOS-2 items best discriminate individuals with AN from healthy controls (HC), and assessed the potential clustering of AN participants based on different profiles of the ADOS-2 item scores. METHOD: We combined datasets from two previous studies, and (a) compared mean ranks between young AN participants (N = 118) and HC (N = 42), (ii) replicated the item selection procedure of the existing ADOS-2 algorithm to assess sensitivity of items in the AN group, and (c) applied a two-step clustering analysis in the AN group (N = 149). RESULTS: AN participants displayed significantly higher mean ranks than HC participants in five of 32 items. All five items are part of the existing ADOS-2 algorithm. We found two clusters of AN participants; one representing normal social behaviour, comprising 68% of the individuals with AN, and one representing less efficient social behaviour, comprising 32% of individuals with AN. CONCLUSIONS: The items comprising the social affective cluster of the existing ADOS-2 algorithm are well suited to assess difficulties with social functioning in individuals with AN.


Assuntos
Anorexia Nervosa/epidemiologia , Anorexia Nervosa/psicologia , Transtorno do Espectro Autista/diagnóstico , Escalas de Graduação Psiquiátrica , Adolescente , Adulto , Algoritmos , Criança , Análise por Conglomerados , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Sensibilidade e Especificidade , Comportamento Social , Adulto Jovem
15.
PLoS One ; 15(7): e0235512, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-32614901

RESUMO

The autism spectrum disorder (ASD) is a complex disorder encompassing a broad phenotypic and genotypic variability. The short (S)/long (L) 5-HTTLPR polymorphism has a functional role in the regulation of extracellular serotonin levels and both alleles have been associated to ASD. Most studies including European, American, and Asian populations have suggested an ethnical heterogeneity of this polymorphism; however, the short/long frequencies from Latin American population have been under-studied in recent meta-analysis. Here, we evaluated the 5-HTTLPR polymorphism in Colombian individuals with idiopathic ASD and reported a non-preferential S or L transmission and a non-association with ASD risk or symptom severity. Moreover, to recognize the allelic frequencies of an under-represented population we also recovered genetic studies from Latin American individuals and compared these frequencies with frequencies from other ethnicities. Results from meta-analysis suggest that short/long frequencies in Latin American are similar to those reported in Caucasian population but different to African and Asian regions.


Assuntos
Transtorno do Espectro Autista/genética , Polimorfismo de Nucleotídeo Único , Proteínas da Membrana Plasmática de Transporte de Serotonina/genética , Grupo com Ancestrais do Continente Asiático/genética , Transtorno do Espectro Autista/diagnóstico , Transtorno do Espectro Autista/patologia , Grupo com Ancestrais do Continente Europeu/genética , Frequência do Gene , Genótipo , Humanos , América Latina , Índice de Gravidade de Doença
16.
Pediatrics ; 146(2)2020 08.
Artigo em Inglês | MEDLINE | ID: mdl-32632023

RESUMO

Although autism spectrum disorder (ASD) can be reliably detected in the second year of life, the average age of diagnosis is 4 to 5 years. Limitations in access to timely ASD diagnostic evaluations delay enrollment in interventions known to improve developmental outcomes. As such, developing and testing streamlined methods for ASD diagnosis is a public health and research priority. In this report, we describe the Early Autism Evaluation (EAE) Hub system, a statewide initiative for ASD screening and diagnosis in the primary care setting. Development of the EAE Hub system involved geographically targeted provision of developmental screening technical assistance to primary care, community outreach, and training primary care clinicians in ASD evaluation. At the EAE Hubs, a standard clinical pathway was implemented for evaluation of children, ages 18 to 48 months, at risk for ASD. From 2012 to 2018, 2076 children were evaluated (mean age: 30 months; median evaluation wait time: 62 days), and 33% of children received a diagnosis of ASD. Our findings suggest that developing a tiered system of developmental screening and early ASD evaluation is feasible in a geographic region facing health care access problems. Through targeted delivery of education, outreach, and intensive practice-based training, large numbers of young children at risk for ASD can be identified, referred, and evaluated in the local primary care setting. The EAE Hub model has potential for dissemination to other states facing similar neurodevelopmental health care system burdens. Implementation lessons learned and key system successes, challenges, and future directions are reviewed.


Assuntos
Transtorno do Espectro Autista/diagnóstico , Programas de Rastreamento , Transtorno do Espectro Autista/epidemiologia , Pré-Escolar , Procedimentos Clínicos , Diagnóstico Precoce , Humanos , Indiana/epidemiologia , Lactente , Capacitação em Serviço , Profissionais de Enfermagem Pediátrica/educação , Pediatras/educação , Atenção Primária à Saúde , Vigilância em Saúde Pública
17.
Pediatrics ; 146(2)2020 08.
Artigo em Inglês | MEDLINE | ID: mdl-32632024

RESUMO

OBJECTIVES: To describe the proportion of children screened by the Modified Checklist for Autism in Toddlers (M-CHAT), identify characteristics associated with screen completion, and examine associations between autism spectrum disorder (ASD) screening and later ASD diagnosis. METHODS: We examined data from children attending 18- and 24-month visits between 2013 and 2016 from 20 clinics within a health care system for evidence of screening with the M-CHAT and subsequent coding of ASD diagnosis at age >4.75 years. We interviewed providers for information about usual methods of M-CHAT scoring and ASD referral. RESULTS: Of 36 233 toddlers, 73% were screened and 1.4% were later diagnosed with ASD. Hispanic children were less likely to be screened (adjusted prevalence ratio [APR]: 0.95, 95% confidence interval [CI]: 0.92-0.98), and family physicians were less likely to screen (APR: 0.12, 95% CI: 0.09-0.15). Compared with unscreened children, screen-positive children were more likely to be diagnosed with ASD (APR: 10.3, 95% CI: 7.6-14.1) and were diagnosed younger (38.5 vs 48.5 months, P < .001). The M-CHAT's sensitivity for ASD diagnosis was 33.1%, and the positive predictive value was 17.8%. Providers routinely omitted the M-CHAT follow-up interview and had uneven referral patterns. CONCLUSIONS: A majority of children were screened for ASD, but disparities exist among those screened. Benefits for screen-positive children are improved detection and younger age of diagnosis. Performance of the M-CHAT can be improved in real-world health care settings by administering screens with fidelity and facilitating timely ASD evaluations for screen-positive children. Providers should continue to monitor for signs of ASD in screen-negative children.


Assuntos
Transtorno do Espectro Autista/diagnóstico , Testes Neuropsicológicos , Atenção Primária à Saúde/métodos , Transtorno do Espectro Autista/epidemiologia , Lista de Checagem , Pré-Escolar , Diagnóstico Tardio , Diagnóstico Precoce , Feminino , Seguimentos , Disparidades em Assistência à Saúde , Hispano-Americanos , Humanos , Lactente , Masculino , Programas de Rastreamento/métodos , Valor Preditivo dos Testes , Sensibilidade e Especificidade , Utah/epidemiologia
18.
PLoS One ; 15(7): e0236415, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-32702017

RESUMO

There is a significant delay between seeking help and a confirmed diagnosis of Autism Spectrum Disorder (ASD). This delay can lead to poor outcomes for both the families and individuals. Telehealth potentially offers a way of improving the diagnostic pathway for ASD. We conducted a scoping review examining which telehealth approaches are used in the diagnosis and assessment of ASD in children and adults, whether they are feasible and acceptable, and how they compare with face-to-face diagnosis and assessment methods. A search for all peer-reviewed articles, combining the terms of autism and telehealth was conducted from 2000 to 2019. A total of 10 studies were identified for inclusion in the review. This review of the literature found there to be two methods of using telehealth: (a) Real-Time method e.g. video conferencing that enables teams in different areas to consult with the families and to assess the child/adult in real time and (b) A Store-and-Forward method as Naturalistic Observation Diagnostic Assessment (NODA) system to upload videos of child's behaviors to a webportal that enables the clinicians to make an assessment remotely. The findings were positive, finding there to be high agreement in terms of the diagnosis between remote methods and face to face methods and with high levels of satisfaction among the families and clinicians. This field is in the very early stages and so only studies with small sample size using surveys and interviews were identified but the findings suggest that there is potential for telehealth methods to improve access to assessment and diagnosis of ASD used in conjunction with existing methods, especially for those with clear autism traits and adults with ASD. Larger randomised controlled trials of this technology are warranted.


Assuntos
Transtorno do Espectro Autista/diagnóstico , Comportamento Infantil , Telemedicina/tendências , Comunicação por Videoconferência/tendências , Adulto , Transtorno do Espectro Autista/diagnóstico por imagem , Transtorno do Espectro Autista/patologia , Criança , Feminino , Humanos , Masculino , Inquéritos e Questionários
19.
Rev Infirm ; 69(260-261): 36-38, 2020.
Artigo em Francês | MEDLINE | ID: mdl-32600595

RESUMO

The support given to young people, children and adolescents with autism spectrum disorder (ASD) is multidisciplinary and comprises medical, psychological and social care. It is provided after the diagnosis of ASD by specialised professionals. This assessment and support are subject to guidelines. They are undertaken in association with the family of the young people concerned.


Assuntos
Transtorno do Espectro Autista/psicologia , Apoio Social , Adolescente , Transtorno do Espectro Autista/diagnóstico , Criança , Humanos
20.
Z Kinder Jugendpsychiatr Psychother ; 48(4): 289-302, 2020 Jul.
Artigo em Alemão | MEDLINE | ID: mdl-32614279

RESUMO

Autism spectrum symptoms in children with congenital blindness Abstract. Objective: Previous studies reported increased rates of autistic symptoms in children with impaired visual abilities (IV). However, the application of existing screening questionnaires for autism spectrum disorders (ASD) proved problematic, as intact visual abilities are typically required. The current study examines the general applicability of three autism-screening questionnaires in children with congenital blindness. Methods: Autistic symptoms were assessed in 15 children with congenital blindness, 15 children with ASD (without IV), and 20 typically developing controls (aged from 8 to 14 years), using the Social Communication Questionnaire, the Marburg Rating Scale for Asperger's Syndrome, and the Social Responsiveness Scale. Results: Items assessing motor, mimic/gesture-related, or joint attention deficits were identified as highly prevalent in children with congenital blindness. These children scored, in general, higher on ASD-screening questionnaires than typically developing controls but lower than sighted children with ASD. Depending on the screening questionnaire used, between 23 % and 67 % of the sample with congenital blindness reached clinical cutoff scores for ASD. SRS total score was negatively correlated to cognitive empathy and verbal IQ in those children. Conclusions: Mothers of children with congenital blindness reported increased autistic symptoms in ASD-screening questionnaires. ASD and IV might share a broad range of symptoms. Future development and validation of screening instruments specifically adapted to the needs of persons with impaired visual abilities seem necessary.


Assuntos
Transtorno do Espectro Autista/complicações , Cegueira/congênito , Cegueira/complicações , Adolescente , Síndrome de Asperger/complicações , Síndrome de Asperger/diagnóstico , Transtorno do Espectro Autista/diagnóstico , Cegueira/diagnóstico , Cegueira/psicologia , Criança , Feminino , Humanos , Masculino
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