RESUMO
LAY ABSTRACT: Autistic youth frequently experience anxiety that can negatively affect them at home, with friends, and at school. Autistic youth have difficulty accessing mental health care, and this is particularly true for youth from traditionally underserved backgrounds. Providing mental health programs in schools may increase access to care for autistic youth with anxiety. The purpose of the study was to train interdisciplinary school providers to deliver school-based Facing Your Fears, a cognitive behavior therapy program for anxiety in autistic youth. Seventy-seven interdisciplinary school providers across 25 elementary/middle schools were trained by their colleagues and members of the research (train-the-trainer approach). Eighty-one students with autism or suspected autism, ages 8-14 years, were randomly assigned to either school-based Facing Your Fears or usual care. Students in school-based Facing Your Fears showed significant reductions in anxiety compared to students in usual care according to caregiver and student report. Other measures involved examining change in provider cognitive behavior therapy knowledge after training and determining how well interdisciplinary school providers were able to deliver school-based Facing Your Fears. Results indicated that interdisciplinary school providers showed significant improvements in cognitive behavior therapy knowledge after training. Interdisciplinary school providers were able to deliver most of school-based Facing Your Fears activities and with good quality. The positive outcomes in this study are encouraging. Training interdisciplinary school providers to deliver school-based Facing Your Fears may increase access to care for anxious autistic students. Future directions and limitations are discussed.
Assuntos
Transtorno do Espectro Autista , Transtorno Autístico , Terapia Cognitivo-Comportamental , Adolescente , Humanos , Ansiedade/psicologia , Transtorno do Espectro Autista/psicologia , Terapia Cognitivo-Comportamental/métodos , Estudantes , CriançaRESUMO
Sex chromosome aneuploidies (SCAs), including 47,XXY, 47,XXX, 47,XYY, and supernumerary variants, occur collectively in approximately one of 500 live births. Clinical phenotypes are highly variable resulting in previous ascertainment rates estimated to be only 10%-25% during a lifetime. Historically, prenatal SCA diagnoses were incidental findings, accounting for ≤10% of cases, with the majority of diagnoses occurring postnatally during evaluations for neurodevelopmental, medical, or infertility concerns. The initiation of noninvasive prenatal screening (NIPS) in 2012 and adoption into standardized obstetric care provides a unique opportunity to significantly increase prenatal ascertainment of SCAs. However, the impact NIPS has had on ascertainment of SCAs is understudied, particularly for those who may defer diagnostic testing until after birth. This study evaluates the timing of diagnostic testing following positive NIPS in 152 infants with SCAs and potential factors influencing this decision. Eighty-seven (57%) elected to defer diagnostic testing after a positive NIPS until birth, and 8% (7/87) of those confirmed after birth were found to have discordant results on postnatal diagnostic testing, most of which would have influenced genetic counseling.
Assuntos
Teste Pré-Natal não Invasivo , Gravidez , Feminino , Humanos , Aneuploidia , Diagnóstico Pré-Natal/métodos , Aberrações dos Cromossomos Sexuais , AconselhamentoRESUMO
LAY ABSTRACT: Cognitive behavioral therapy helps to treat anxiety symptoms in autistic youth, but it is difficult for families to access cognitive behavioral therapy in the community. Training school providers to deliver cognitive behavioral therapy may help autistic youth and their families to access these programs. Unfortunately, we do not know how cognitive behavioral therapy programs can be delivered by school providers and how these programs help the autistic students who access them. This study addressed this gap and was part of a larger study that looked at the effectiveness of Facing Your Fears-School-Based in 25 public schools. The study goals were to understand whether Facing Your Fears-School-Based helped students and the factors that made it easy or difficult to deliver Facing Your Fears-School-Based in schools. Thirty providers participated in interviews guided by the Reach, Effectiveness, Adoption, Implementation, and Maintenance framework. Participants shared information that fell into several major categories that included (1) delivering Facing Your Fears-School-Based to many different students; (2) the positive impact of Facing Your Fears-School-Based on students' school participation; and (3) plans to continue using Facing Your Fears-School-Based. School providers also shared that Facing Your Fears-School-Based was easy to use for non-mental health providers and reported adapting Facing Your Fears-School-Based to meet student needs. The results of this study suggest that Facing Your Fears-School-Based may help autistic students and highlight the importance of using mental health programs in schools that are flexible, able to be adapted, and that are able to be used by many different types of school providers.
Assuntos
Transtorno do Espectro Autista , Transtorno Autístico , Terapia Cognitivo-Comportamental , Adolescente , Ansiedade/psicologia , Ansiedade/terapia , Transtorno do Espectro Autista/psicologia , Transtorno do Espectro Autista/terapia , Transtorno Autístico/terapia , Terapia Cognitivo-Comportamental/métodos , Humanos , EstudantesRESUMO
Sex chromosome trisomies (SCT), including Klinefelter syndrome/XXY, Trisomy X, and XYY syndrome, occur in 1 of every 500 births. The past decades of research have resulted in a broadening of known associated medical comorbidities as well as advances in psychological research. This review summarizes what is known about early neurodevelopmental, behavioral, and medical manifestations in young children with SCT. We focus on recent research and unanswered questions related to the risk for neurodevelopmental disorders that commonly present in the first years of life and discuss the medical and endocrine manifestations of SCT at this young age. The increasing rate of prenatal SCT diagnoses provides the opportunity to address gaps in the existing literature in a new birth cohort, leading to development of the eXtraordinarY Babies Study. This study aims to better describe and compare the natural history of SCT conditions, identify predictors of positive and negative outcomes in SCT, evaluate developmental and autism screening measures commonly used in primary care practices for the SCT population, and build a rich data set linked to a bank of biological samples for future study. Results from this study and ongoing international research efforts will inform evidence-based care and improve health and neurodevelopmental outcomes.
Assuntos
Síndrome de Klinefelter/diagnóstico , Diagnóstico Pré-Natal , Transtornos do Cromossomo Sexual no Desenvolvimento Sexual/diagnóstico , Transtornos dos Cromossomos Sexuais/diagnóstico , Trissomia/diagnóstico , Criança , Pré-Escolar , Cromossomos Humanos X/genética , Feminino , Humanos , Síndrome de Klinefelter/genética , Síndrome de Klinefelter/fisiopatologia , Masculino , Transtornos do Neurodesenvolvimento/diagnóstico , Transtornos do Neurodesenvolvimento/genética , Transtornos do Neurodesenvolvimento/fisiopatologia , Gravidez , Estudos Prospectivos , Fatores de Risco , Aberrações dos Cromossomos Sexuais , Transtornos dos Cromossomos Sexuais/fisiopatologia , Transtornos do Cromossomo Sexual no Desenvolvimento Sexual/genética , Transtornos do Cromossomo Sexual no Desenvolvimento Sexual/fisiopatologia , Cromossomos Sexuais/genética , Trissomia/genética , Trissomia/fisiopatologia , Cariótipo XYYRESUMO
An efficient and direct measure of social interactions and autism symptoms is needed for fragile X syndrome (FXS) research and clinical care. The Autism Screening Instrument for Educational Planning-Third Edition (ASIEP-3) Interaction assessment is a brief standardized measure that quantifies social responses under different conditions. The feasibility and validity of the ASIEP-3 was evaluated in 26 males and 13 females with FXS, along with cognitive testing and behavior questionnaires. The videos were scored at 10-second intervals, and the observed behaviors were scored as an interaction, independent play, no response, or aggression. In total, 39/41 participants successfully completed the ASIEP-3 (age M = 14.4 ± 10.2), with a range of cognitive abilities (abbreviated IQ (ABIQ) M = 58.9 ± 17.3, median = 50), behaviors (Aberrant Behavior Checklist (ABC) Total M = 37.00 ± 27.3), and autism diagnoses (N = 22/39). Reliable administration was demonstrated by all team members. The mean coded behaviors included interaction (40.6%), independent play (36.8%), no response (21.1%), and aggressive behavior (<10%). The interaction score was negatively correlated with the Social Communication Questionnaire (SCQ) score (p = 0.037), and the profiles differed by autism spectrum disorder (ASD) diagnosis. The intraclass correlation coefficients (ICCs) ranged from 0.79 to 0.93 for master's level and above. Administration of the ASIEP-3 was feasible for FXS across sex, age, ability, and behavior ratings by a trained research team. Reliable scoring required advanced training in the assessment of social development and FXS experience. The scores correlated to ratings and diagnoses of ASD. The ASIEP-3 shows promise to reliably index social interactions in FXS.