Pubmed du 26/06/20

vendredi 26 juin 2020

1. Ames JL, Massolo ML, Davignon MN, Qian Y, Croen LA. Healthcare service utilization and cost among transition-age youth with autism spectrum disorder and other special healthcare needs. Autism ;2020 (Jun 25):1362361320931268.

Youth with autism spectrum disorder often have complex medical needs. Disruptions of healthcare during the transition from pediatric to adult healthcare may put youth with autism spectrum disorder at higher risk of medical emergencies and high medical costs. To understand healthcare utilization during the transition years, we conducted a study among transition-age youth (14-25 years old) receiving healthcare at Kaiser Permanente Northern California during 2014-2015. We examined differences in healthcare utilization and costs among youth with autism spectrum disorder (n = 4123), attention deficit and hyperactivity disorder (n = 20,6015), diabetes mellitus (n = 2156), and general population controls (n = 20,615). Analyses were also stratified by age and sex. Youth with autism spectrum disorder had the highest utilization of outpatient primary care, mental health, and psychotropic medications and the lowest utilization of obstetrics/gynecology and urgent care. Costs for youth with autism spectrum disorder were higher than those for attention deficit and hyperactivity disorder and general population peers and lower than for diabetes mellitus. Healthcare utilization patterns varied by age. Transition-age youth with autism spectrum disorder generally used healthcare at higher rates relative to attention deficit and hyperactivity disorder and general population peers but at similar or lower rates than diabetes mellitus peers, indicating this group’s complex combination of psychiatric and medical healthcare needs. The relatively high utilization of psychiatric services and low utilization of women’s health services in transition-age youth with autism spectrum disorder may have implications for long-term health and warrants additional research.

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2. Amin MR, Gentile JP, Edwards B, Davis M. Evaluation of Health Care Disparities for Individuals with Intellectual and Developmental Disabilities in Ohio. Community Ment Health J ;2020 (Jun 26)

The purpose of the study was to determine the acute and long term services and supports (LTSS) utilization, cost of health care and disparities in access of care for individuals with Intellectual and Developmental Disabilities (IDD). Individuals with IDD on a waiver (receiving Medicaid-funded LTSS in community settings) compared to non-IDD individuals on a waiver control group were compared using Ohio Medicaid claims data from calendar year 2013. Results found the IDD Waiver population had lower utilization rates for emergency department visits, hospital admissions, and hospital readmissions within 30 days compared to the Non-IDD Waiver population and lower PMPM expenditures across all medical service categories except pharmacy. However, the IDD Waiver population possessed greater PMPM costs for LTSS and therefore greater overall costs of care. Furthermore, 94% of IDD Waiver individuals had an episode of care for neurological conditions, with the second most frequent episode of care being for mental health services. The two most frequent episodes of care for individuals in the Non-IDD Waiver group were for conditions related to treatment (medical/surgical) and musculoskeletal conditions. The goal of this research was to investigate the health care needs of individuals with IDD that may vary from other long term care populations. The differences in health care needs for individuals with IDD require health systems and care management that is tailored to the sub-population, with an emphasis on treatment for neurological and mental health conditions. The typical focus of care management efforts on reducing unnecessary utilization of hospital services may be less relevant to the IDD Waiver population. The results of this study will be used to make recommendations regarding the unique health care needs of individuals with IDD.

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3. Auvichayapat N, Patjanasoontorn N, Phuttharak W, Suphakunpinyo C, Keeratitanont K, Tunkamnerdthai O, Aneksan B, Klomjai W, Boonphongsathian W, Sinkueakunkit A, Punjaruk W, Tiamkao S, Auvichayapat P. Brain Metabolite Changes After Anodal Transcranial Direct Current Stimulation in Autism Spectrum Disorder. Front Mol Neurosci ;2020 ;13:70.

OBJECTIVES : Previous research has provided evidence that transcranial direct current stimulation (tDCS) can reduce severity of autism spectrum disorder (ASD) ; however, the exact mechanism of this effect is still unknown. Magnetic resonance spectroscopy has demonstrated low levels of brain metabolites in the anterior cingulate cortex (ACC), amygdala, and left dorsolateral prefrontal cortex (DLPFC) in individuals with ASD. The aim of this study was to investigate the effects of anodal tDCS on social functioning of individuals with ASD, as measured by the social subscale of the Autism Treatment Evaluation Checklist (ATEC), through correlations between pretreatment and posttreatment concentrations of brain metabolites in the areas of interest (DLPFC, ACC, amygdala, and locus coeruleus) and scores on the ATEC social subscale. METHODS : Ten participants with ASD were administered 1 mA anodal tDCS to the left DLPFC for 20 min over five consecutive days. Measures of the ATEC social subscale and the concentrations of brain metabolites were performed before and immediately after the treatment. RESULTS : The results showed a significant decrease between pretreatment and immediately posttreatment in the ATEC social subscale scores, significant increases in N-acetylaspartate (NAA)/creatine (Cr) and myoinositol (mI)/Cr concentrations, and a decrease in choline (Cho)/Cr concentrations in the left DLPFC and locus coeruleus after tDCS treatment. Significant associations between decreased ATEC social subscale scores and changed concentrations in NAA/Cr, Cho/Cr, and mI/Cr in the locus coeruleus were positive. CONCLUSION : Findings suggest that beneficial effects of tDCS in ASD may be due to changes in neuronal and glia cell activity and synaptogenesis in the brain network of individuals with ASD. Further studies with larger sample sizes and control groups are warranted.

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4. Cardillo R, Erbì C, Mammarella IC. Spatial Perspective-Taking in Children With Autism Spectrum Disorders : The Predictive Role of Visuospatial and Motor Abilities. Front Hum Neurosci ;2020 ;14:208.

Despite its impact on everyday functioning, spatial perspective-taking has rarely been investigated in autism spectrum disorders (ASD), and previous findings are surprisingly sparse and inconsistent. In the present study, we aimed to investigate spatial perspective-taking abilities in children and adolescents with ASD without intellectual disabilities, comparing them with a group of typically developing (TD) peers. Our objectives were : (i) to test similarities and differences between these groups in a spatial perspective-taking task ; and (ii) to see whether similar or different underlying processes (i.e., fine and gross motor skills, and visuospatial abilities) might account for the groups’ performance in the spatial perspective-taking task. A group of children with ASD (N = 36) was compared with a TD group (N = 39), aged from 8 to 16 years. Participants were administered tasks assessing spatial perspective-taking, fine and gross motor skills, visuo-constructive abilities, visuospatial working memory, visual imagery, and mental rotation. Our results revealed that the ASD group had more difficulty with the spatial perspective-taking task than the TD group. The two groups also had some shared and some different processes that predicted their perspective-taking performance : a significant predictive effect of fine motor skills and visuospatial working memory emerged for both groups, while gross motor skills (i.e., walking heel-to-toe) and visuospatial imagery only revealed a role in the TD group. These findings suggest that different abilities might account for the two groups’ performance in the spatial perspective-taking task. Gross motor skills and complex visuospatial abilities seem to be more important in sustaining spatial perspective-taking ability in typical development than in the event of ASD. Some of the clinical and educational implications of these findings are discussed.

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5. Carter RM, Jung H, Reaven J, Blakeley-Smith A, Dichter GS. A Nexus Model of Restricted Interests in Autism Spectrum Disorder. Front Hum Neurosci ;2020 ;14:212.

Restricted interests (RIs) in autism spectrum disorder (ASD) are clinically impairing interests of unusual focus or intensity. They are a subtype of restricted and repetitive behaviors which are one of two diagnostic criteria for the disorder. Despite the near ubiquity of RIs in ASD, the neural basis for their development is not well understood. However, recent cognitive neuroscience findings from nonclinical samples and from individuals with ASD shed light on neural mechanisms that may explain the emergence of RIs. We propose the nexus model of RIs in ASD, a novel conceptualization of this symptom domain that suggests that RIs may reflect a co-opting of brain systems that typically serve to integrate complex attention, memory, semantic, and social communication functions during development. The nexus model of RIs hypothesizes that when social communicative development is compromised, brain functions typically located within the lateral surface of cortex may expand into social processing brain systems and alter cortical representations of various cognitive functions during development. These changes, in turn, promote the development of RIs as an alternative process mediated by these brain networks. The nexus model of RIs makes testable predictions about reciprocal relations between the impaired development of social communication and the emergence of RIs in ASD and suggests novel avenues for treatment development.

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6. Çelikkol Sadıç Ç, Bilgiç A, Kılınç İ, Oflaz MB, Baysal T. Evaluation of Appetite-Regulating Hormones ın Young Children with Autism Spectrum Disorder. J Autism Dev Disord ;2020 (Jun 24)

This study aimed to investigate the role of leptin, ghrelin, neuropeptide Y, and nesfatin-1 in young children with autism spectrum disorder (ASD). A total of 44 children with ASD and 44 healthy controls aged 18-60 months were included. Plasma levels of hormones were measured using commercial enzyme-linked immunosorbent assay kits. Plasma leptin and ghrelin levels were significantly higher in the ASD group than in the control group. However, no significant difference for plasma neuropeptide Y and nesfatin-1 levels was detected between the groups. No relation was found between the severity of ASD symptoms, severity of eating problems, and plasma levels of hormones. Leptin and ghrelin may play a potential role in the pathogenesis of ASD.

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7. Chen D, Ren K, Liu H, Mao H, Li Z, Mo H, Xie S, Shi Y, Chen Q, Wang W. A Whole-Brain Cell-Type-Specific Sparse Neuron Labeling Method and Its Application in a Shank3 Autistic Mouse Model. Front Cell Neurosci ;2020 ;14:145.

Single neurons, as the basic unit of the brain, consist of a cell body and processes, including dendrites and axons. Even neurons of the same type show various subtle process characteristics to fit into the diverse neural circuits. Different cell types of neurons form complicated circuits in the brain. Therefore, detailed neuronal morphology is required to understand normal neuronal function and pathological mechanisms, such as those that occur in autism. Here, we developed a strategy to sparsely label the same type of neurons throughout the whole brain and tested its application in an autistic animal model-Shank3 knockout (KO) mice. To achieve this, we designed an adeno-associated virus (AAV) that expresses Cre recombinase-dependent regular and membrane-targeted enhanced green fluorescent protein (EGFP) under a human synapsin 1 promoter and verified it in several Cre transgenic mice. We could sparsely label the projection neurons in multiple brain areas by retro-ocular injection of the virus into CaMKIIα-Cre mice. Then, we analyzed the morphology of the projection neurons in Shank3 KO mice with this method. We found differential dendritic complexity and dendritic spine changes in projection neurons in Shank3 KO mice crossed with CaMKIIα-Cre mice compared with littermate control mice in the striatum, cortex, and hippocampus. By combining this method with various Cre mouse lines crossed with mouse models of disease, we can screen the morphological traits of distinct types of neurons throughout the whole brain that will help us to understand the exact role of the specific cell types of neurons not only in autism spectrum disorder (ASD) mouse models but also in other psychiatric disorder mouse models.

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8. Deste G, Vita A, Nibbio G, Penn DL, Pinkham AE, Harvey PD. Autistic Symptoms and Social Cognition Predict Real-World Outcomes in Patients With Schizophrenia. Front Psychiatry ;2020 ;11:524.

OBJECTIVE : Real-world functioning is a complex construct influenced by different factors. The impact of social cognition and autism spectrum disorder (ASD) symptoms on different aspects of the life of people with schizophrenia has been demonstrated independently, but it is unclear how these factors are related to functioning when considered concurrently. We hypothesized that ASD symptoms could play a major role in predicting real-world functioning in schizophrenia. METHODS : Existent databases from two studies (SCOPE Phase 3 and SCOPE Phase 5), in which a total of 361 patients (mean age 41.7 years ; 117 females) were assessed with measures of symptom severity, neuro- and socio-cognitive abilities, functional capacity, social skills, and informant-reported real-world functioning outcomes, were analyzed. RESULTS : Active social avoidance, social skills, ASD symptoms, and emotion processing emerged as predictors of real-world interpersonal relationships. Cognitive performance, positive symptoms, and functional capacity emerged as predictors of real-world participation in daily activities. Cognitive performance, emotion processing, positive symptoms severity, and social skills emerged as predictors of real-world work outcomes. CONCLUSION : Among other demographic, clinical, and functional capacity variables, increased ASD symptoms emerged as a significant predictor of poorer social relationships and may therefore represent a key factor in predicting real-world social functioning in schizophrenia.

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9. Dudova I, Horackova K, Hrdlicka M, Balastik M. Can Maternal Autoantibodies Play an Etiological Role in ASD Development ?. Neuropsychiatr Dis Treat ;2020 ;16:1391-1398.

Autism spectrum disorder (ASD) is a heterogeneous condition with multiple etiologies and risk factors - both genetic and environmental. Recent data demonstrate that the immune system plays an important role in prenatal brain development. Deregulation of the immune system during embryonic development can lead to neurodevelopmental changes resulting in ASD. One of the potential etiologic factors in the development of ASD has been identified as the presence of maternal autoantibodies targeting fetal brain proteins. The type of ASD associated with the presence of maternal autoantibodies has been referred to as maternal antibodies related to ASD (MAR ASD). The link between maternal autoantibodies and ASD has been demonstrated in both clinical studies and animal models, but the exact mechanism of their action in the pathogenesis of ASD has not been clarified yet. Several protein targets of ASD-related maternal autoantibodies have been identified. Here, we discuss the role of microtubule-associated proteins of the collapsin response mediator protein (CRMP) family in neurodevelopment and ASD. CRMPs have been shown to integrate multiple signaling cascades regulating neuron growth, guidance or migration. Their targeting by maternal autoantibodies could change CRMP levels or distribution in the developing nervous system, leading to defects in axon growth/guidance, cortical migration, or dendritic projection, which could play an etiological role in ASD development. In addition, we discuss the future possibilities of MAR ASD treatment.

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10. Hauschild KM, Felsman P, Keifer CM, Lerner MD. Evidence of an Own-Age Bias in Facial Emotion Recognition for Adolescents With and Without Autism Spectrum Disorder. Front Psychiatry ;2020 ;11:428.

A common interpretation of the face-processing deficits associated with autism spectrum disorder (ASD) is that they arise from a failure to develop normative levels of perceptual expertise. One indicator of perceptual expertise for faces is the own-age bias, operationalized as a processing advantage for faces of one’s own age, presumably due to more frequent contact and experience. This effect is especially evident in domains of face recognition memory but less commonly investigated in social-emotional expertise (e.g., facial emotion recognition ; FER), where individuals with ASD have shown consistent deficits. In the present study, we investigated whether a FER task would elicit an own-age bias for individuals with and without ASD and explored how the magnitude of an own-age bias may differ as a function of ASD status and symptoms. Ninety-two adolescents (63 male) between the ages of 11 and 14 years completed the child- and adult-face subtests of a standardized FER task. Overall FER accuracy was found to differ by ASD severity, reflecting poorer performance for those with increased symptoms. Results also indicated that an own-age bias was evident, reflecting greater FER performance for child compared to adult faces, for all adolescents regardless of ASD status or symptoms. However, the strength of the observed own-age bias did not differ by ASD status or severity. Findings suggest that face processing abilities of adolescents with ASD may be influenced by experience with specific categories of stimuli, similar to their typically developing peers.

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11. Hirosawa T, Sowman PF, Fukai M, Kameya M, Soma D, Hino S, Kitamura T, An KM, Yoshimura Y, Hasegawa C, Saito D, Ikeda T, Kikuchi M. Relationship between epileptiform discharges and social reciprocity or cognitive function in children with and without autism spectrum disorders : an MEG study. Psychiatry Clin Neurosci ;2020 (Jun 26)

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12. Ingenhoven T. [Autism or borderline ? A plea for (even) more integrative diagnostics in our courses]. Tijdschr Psychiatr ;2020 ;62(6):437-438.

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13. Linker SB, Mendes APD, Marchetto MC. IGF-1 treatment causes unique transcriptional response in neurons from individuals with idiopathic autism. Mol Autism ;2020 (Jun 26) ;11(1):55.

BACKGROUND : Research evidence accumulated in the past years in both rodent and human models for autism spectrum disorders (ASD) have established insulin-like growth factor 1 (IGF-1) as one of the most promising ASD therapeutic interventions to date. ASD is phenotypically and etiologically heterogeneous, making it challenging to uncover the underlying genetic and cellular pathophysiology of the condition ; and to efficiently design drugs with widespread clinical benefits. While IGF-1 effects have been comprehensively studied in the literature, how IGF-1 activity may lead to therapeutic recovery in the ASD context is still largely unknown. METHODS : In this study, we used a previously characterized neuronal population derived from induced pluripotent stem cells (iPSC) from neurotypical controls and idiopathic ASD individuals to study the transcriptional signature of acutely and chronically IGF-1-treated cells. RESULTS : We present a comprehensive list of differentially regulated genes and molecular interactions resulting from IGF-1 exposure in developing neurons from controls and ASD individuals. Our results indicate that IGF-1 treatment has a different impact on neurons from ASD patients compared to controls. Response to IGF-1 treatment in neurons derived from ASD patients was heterogeneous and correlated with IGF-1 receptor expression, indicating that IGF-1 response may have responder and non-responder distinctions across cohorts of ASD patients. Our results suggest that caution should be used when predicting the effect of IGF-1 treatment on ASD patients using neurotypical controls. Instead, IGF-1 response should be studied in the context of ASD patients’ neural cells. LIMITATIONS : The limitation of our study is that our cohort of eight sporadic ASD individuals is comorbid with macrocephaly in childhood. Future studies will address weather downstream transcriptional response of IGF-1 is comparable in non-macrocephalic ASD cohorts. CONCLUSIONS : The results presented in this study provide an important resource for researchers in the ASD field and underscore the necessity of using ASD patient lines to explore ASD neuronal-specific responses to drugs such as IGF-1. This study further helps to identify candidate pathways and targets for effective clinical intervention and may help to inform clinical trials in the future.

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14. Malhi P, Sankhyan N. Intentional Self Harm in Children with Autism. Indian J Pediatr ;2020 (Jun 26)

The study examined the demographic, socioeconomic, and clinical correlates of self injurious behaviors (SIBs) in a large clinical sample of children with autism spectrum disorder (ASD). A case record review of 1252 ASD children for whom complete information on socioeconomic background variables and presence/absence of SIBs was available were included. The overall prevalence of SIBs was 22.1% and the most prevalent SIBs were head banging (47%), followed by self hitting (27.8%). Several factors including age at diagnosis (t = 2.09, P = 0.037), education of mother (χ(2) = 14.48, P = 0.0001), presence of co-morbid medical condition (χ(2) = 4.22, P = 0.040), intellectual disability (χ(2) = 23.17, P = 0.0001), sensory processing abnormalities (χ(2) = 13.01, P = 0.0001), and severity of autism (χ(2) = 51.13, P = 0.0001) were found to be significantly associated with presence of SIBs. Logistic regression analysis revealed that severity of autism was the only significant predictor of SIBs. Intentional self harm is related with significant morbidity and needs early intervention.

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15. Mallise CA, Lane AE, Woolard AJ, Whalen OM, Murphy VE, Karayanidis F, Campbell LE. The temperament features associated with autism spectrum disorder in childhood : A systematic review. Res Dev Disabil ;2020 (Jun 26) ;104:103711.

BACKGROUND : Temperament is an important construct that shapes child development. Temperament is suggested to present differently in different groups, such as children with neurodevelopmental disorders. However, it is not known whether there are specific temperament features associated with Autism Spectrum Disorder (ASD). AIM : This systematic review aimed to synthesise extant literature to determine whether there are temperament features associated with ASD in infancy, toddlerhood and childhood. METHODS AND PROCEDURES : Following the PRISMA guidelines for systematic reviews, we searched PsycINFO, CINAHL, Academic Search Ultimate and ProQuest for all available articles from database conception until January 2020. The Joanna Briggs Institute Critical Appraisal checklists were used to assess the methodological quality of included articles. OUTCOMES AND RESULTS : Twenty-six articles met the selection criteria : (1) reported on the temperament of children (0-12 years of age) diagnosed with ASD, (2) peer-reviewed ; and (3) published in English. Articles varied in overall methodological quality. Infants later diagnosed with ASD were found to more frequently be described as having ’easy’ temperament features in early infancy, compared to typically developing infants and infants with developmental concerns but not ASD. Once diagnosed, children with ASD were reported to, as a group, display more negative affect, less extraversion and less effortful control than typically developing children. CONCLUSIONS AND IMPLICATIONS : The literature suggests that more challenging temperament features are associated with ASD in childhood, but less is known about within group variability. Overall, this review highlights the need for further investigation into the variability of temperament in children with ASD.

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16. Martin-Kenny N, Bérubé NG. Effects of a postnatal Atrx conditional knockout in neurons on autism-like behaviours in male and female mice. J Neurodev Disord ;2020 (Jun 24) ;12(1):17.

BACKGROUND : Alpha-thalassemia/mental retardation, X-linked, or ATRX, is an autism susceptibility gene that encodes a chromatin remodeler. Mutations of ATRX result in the ATR-X intellectual disability syndrome and have been identified in autism spectrum disorder (ASD) patients. The mechanisms by which ATRX mutations lead to autism and autistic-like behaviours are not yet known. To address this question, we generated mice with postnatal Atrx inactivation in excitatory neurons of the forebrain and performed a battery of behavioural assays that assess autistic-like behaviours. METHODS : Male and female mice with a postnatal conditional ablation of ATRX were generated using the Cre/lox system under the control of the αCaMKII gene promoter. These mice were tested in a battery of behavioural tests that assess autistic-like features. We utilized paradigms that measure social behaviour, repetitive, and stereotyped behaviours, as well as sensory gating. Statistics were calculated by two-way repeated measures ANOVA with Sidak’s multiple comparison test or unpaired Student’s t tests as indicated. RESULTS : The behaviour tests revealed no significant differences between Atrx-cKO and control mice. We identified sexually dimorphic changes in odor habituation and discrimination ; however, these changes did not correlate with social deficits. CONCLUSION : The postnatal knockout of Atrx in forebrain excitatory neurons does not lead to autism-related behaviours in male or female mice.

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17. Miller CJ, Kim GY, Zhao X, Usdin K. All three mammalian MutL complexes are required for repeat expansion in a mouse cell model of the Fragile X-related disorders. PLoS Genet ;2020 (Jun 26) ;16(6):e1008902.

Expansion of a CGG-repeat tract in the 5’ untranslated region of the FMR1 gene causes the fragile X-related disorders (FXDs ; aka the FMR1 disorders). The expansion mechanism is likely shared by the 35+ other diseases resulting from expansion of a disease-specific microsatellite, but many steps in this process are unknown. We have shown previously that expansion is dependent upon functional mismatch repair proteins, including an absolute requirement for MutLγ, one of the three MutL heterodimeric complexes found in mammalian cells. We demonstrate here that both MutLα and MutLβ, the two other MutL complexes present in mammalian cells, are also required for most, if not all, expansions in a mouse embryonic stem cell model of the FXDs. A role for MutLα and MutLβ is consistent with human GWA studies implicating these complexes as modifiers of expansion risk in other Repeat Expansion Diseases. The requirement for all three complexes suggests a novel model in which these complexes co-operate to generate expansions. It also suggests that the PMS1 subunit of MutLβ may be a reasonable therapeutic target in those diseases in which somatic expansion is an important disease modifier.

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18. Perryman T, Ricks L, Cash-Baskett L. Meaningful Transitions : Enhancing Clinician Roles in Transition Planning for Adolescents With Autism Spectrum Disorders. Lang Speech Hear Serv Sch ;2020 (Jun 25):1-15.

Purpose The purpose of this tutorial is to provide speech-language pathologists (SLPs) with foundational information that will assist them in transition planning for students with autism spectrum disorder (ASD) based on a review of current literature. SLPs must be knowledgeable of transition planning in order to assist students with ASD and their families with preparing for their future. An appreciation and awareness of pertinent assessments, functional goals, and factors associated with successful postsecondary outcomes are essential competencies that SLPs need when planning for the transition process. SLPs are ideal workforce development partners. They facilitate independence, communication, and interaction skills necessary for postsecondary and workplace success. Speech-language services are one of the most common special education services received by high school students with Individualized Education Programs. However, SLPs receive little preparation on the specifics or nuances of transition planning prior to working in the educational settings, despite the high incidence of speech-language services in secondary education. Method This tutorial reviews and synthesizes research findings related to assessment planning, goal-setting, and Individualized Education Program implementation for achieving meaningful postsecondary transitions for students with ASD. Additionally, it highlights some of the key postsecondary skillsets related to speech-language therapy services, including the development of self-determination, self-advocacy, social competence, and adaptive behaviors. Conclusion Greater focus on higher quality transition planning requires SLPs to develop high levels of knowledge and competencies in the transition planning process. This tutorial educates clinicians on the unique challenges faced by individuals with ASD and provides evidence-based strategies to help students and families successfully plan for and navigate postsecondary transitions.

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19. Qiu N, Tang C, Zhai M, Huang W, Weng J, Li C, Xiao X, Fu J, Zhang L, Xiao T, Fang H, Ke X. Application of the Still-Face Paradigm in Early Screening for High-Risk Autism Spectrum Disorder in Infants and Toddlers. Front Pediatr ;2020 ;8:290.

Background : Although autism spectrum disorder (ASD) can currently be diagnosed at the age of 2 years, age at ASD diagnosis is still 40 months or even later. In order to early screening for ASD with more objective method, behavioral videos were used in a number of studies in recent years. Method : The still-face paradigm (SFP) was adopted to measure the frequency and duration of non-social smiling, protest behavior, eye contact, social smiling, and active social engagement in high-risk ASD group (HR) and typical development group (TD) (HR : n = 45 ; TD : n = 43). The HR group was follow-up until they were 2 years old to confirm final diagnosis. Machine learning methods were used to establish models for early screening of ASD. Results : During the face-to-face interaction (FF) episode of the SFP, there were statistically significant differences in the duration and frequency of eye contact, social smiling, and active social engagement between the two groups. During the still-face (SF) episode, there were statistically significant differences in the duration and frequency of eye contact and active social engagement between the two groups. The 45 children in the HR group were reclassified into two groups after follow-up : five children in the N-ASD group who were not meet the criterion of ASD and 40 children in the ASD group. The results showed that the accuracy of Support Vector Machine (SVM) classification was 83.35% for the SF episode. Conclusion : The use of the social behavior indicator of the SFP for a child with HR before 2 years old can effectively predict the clinical diagnosis of the child at the age of 2 years. The screening model constructed using SVM based on the SF episode of the SFP was the best. This also proves that the SFP has certain value in high-risk autism spectrum disorder screening. In addition, because of its convenient, it can provide a self-screening mode for use at home. Trial registration : Chinese Clinical Trial Registry, ChiCTR-OPC-17011995.

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20. Skinner C, Pauly R, Skinner SA, Schroer RJ, Simensen RJ, Taylor HA, Friez MJ, DuPont BR, Stevenson RE. Autistic Disorder : A 20 Year Chronicle. J Autism Dev Disord ;2020 (Jun 26)

The course of 187 individuals ages 3-21 years with Autistic Disorder was traced through a period of 20 years (enrollment : 1995-1998, follow up : 2014-2019). Specific genetic and environmental causes were identified in only a minority. Intellectual disability coexisted in 84%. Few became independent with 99% living at home with relatives, in disability group homes or in residential facilities. Seven individuals (3.7%) attained postsecondary education, two receiving baccalaureate degrees, two receiving associate degrees, and three receiving certificates from college disability programs. It may be anticipated that the long term outcome for individuals currently diagnosed with Autism Spectrum Disorder (ASD) will be substantially better than for individuals with Autistic Disorder in this cohort.

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21. Tak NGA. [Revision of autism spectrum disorder diagnosis in three women]. Tijdschr Psychiatr ;2020 ;62(6):488-492.

Increasing attention has arisen for autism spectrum disorders (asd) in adults, especially women. To ensure the specificity of the diagnostic process, careful consideration of the differential diagnosis is necessary, in order to optimise treatment.
AIM : To offer practical recommendations to increase the specificity of the diagnostic process for asd.
RESULTS : The asd diagnoses of the three women were reconsidered and eventually removed in favor of new diagnoses, which opened the door to more suitable therapeutic possibilities.
CONCLUSION : The asd diagnoses of the three women must always be considered. During the diagnostic process, it must be considered whether there are distinctive symptoms of asd present that justify the need for an asd diagnosis, or whether the symptoms can be explained more suitably by another psychiatric disorder.

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22. Tan A, Semmel ES, Wolf I, Hammett B, Ilardi D. Implementing standard screening for autism spectrum disorder in CHD. Cardiol Young ;2020 (Jun 25):1-8.

INTRODUCTION : While the overall prevalence of autism is 1.7% in the United States of America, research has demonstrated a two- to five-fold increase in CHD. The Cardiac Neurodevelopmental Outcome Collaborative recommends screening for autism from infancy through adolescence. This study investigated the frequency of autism concerns at a single Cardiac Neurodevelopmental Program and examined current clinical practice as a way to improve quality of care. MATERIALS AND METHODS : Patients (n = 134 ; mean age = 9.0 years) included children with high-risk CHD who completed a neurodevelopmental evaluation following a formalised referral to the Cardiac Neurodevelopmental Program between 2018 and 2019. Retrospective chart review included parent report on the Behaviour Assessment System for Children-3 and Adaptive Behaviour Assessment System-3. Descriptive and correlation analyses were completed. RESULTS : In this sample, 11.2% presented with autism-related concerns at referral, 2 were diagnosed with autism, 9 were referred to an autism specialist (6 confirmed diagnosis ; 3 not completed). Thus, at least 5.9% of the sample were diagnosed with autism following thorough clinical evaluation. Analyses showed atypicality, along with deficient adaptability, leisure, social, and communication skills. Frequency of early intervention, school supports, and relation with comorbidities are reported. DISCUSSION : Prior to assessment recommendations by the Cardiac Neurodevelopmental Outcome Collaborative, autism screening may not be completed systematically in clinical care for CHD. The current sample demonstrates a high frequency of autism in the typically referred clinical sample. Commonly used parent-report measures may reveal concerns but will not help diagnosis. Systematic use of an autism screener is essential.

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23. Zebolsky A, Vos D, Soares N. Awareness of genetic testing for children with autism spectrum disorder among caregivers in an autism support group. J Community Genet ;2020 (Jun 24)

Recent discoveries have improved our understanding of the complex genetic mechanisms underlying autism spectrum disorder (ASD). Despite current guidelines, genetic testing for children with ASD is largely underutilized. This has been attributed to a lack of public awareness regarding genetic testing. The role that autism support groups play in this awareness has not been previously described. A web-based survey was developed and distributed through a community support group to assess the awareness and utilization of genetic testing among caregivers for children with ASD. A total of 138 caregivers responded in total. Only 53.6% were aware that genetic testing exists for ASD. Genetic testing was completed in 17.4% of respondents. Rates of awareness were similar across demographic factors including race, family income, education level, and urban, suburban, or rural residence. This supports low awareness as a key factor in the underutilization of genetic testing for ASD, even among members in an organized autism support group. Targeting public awareness through these organizations may be a promising approach for improving the utilization of genetic testing in ASD.

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