1. Angelakos CC, Tudor JC, Ferri SL, Jongens TA, Abel T. {{Home-cage hypoactivity in mouse genetic models of autism spectrum disorder}}. {Neurobiol Learn Mem};2019 (Feb 20)
Genome-wide association and whole exome sequencing studies from Autism Spectrum Disorder (ASD) patient populations have implicated numerous risk factor genes whose mutation or deletion results in significantly increased incidence of ASD. Behavioral studies of monogenic mutant mouse models of ASD-associated genes have been useful for identifying aberrant neural circuitry. However, behavioral results often differ from lab to lab, and studies incorporating both males and females are often not performed despite the significant sex-bias of ASD. In this study, we sought to investigate the simple, passive behavior of home-cage activity monitoring across multiple 24-hour days in four different monogenic mouse models of ASD: Shank3b(-/-), Cntnap2(-/-), Pcdh10(+/-), and Fmr1 KO mice. Relative to sex-matched wildtype (WT) littermates, we discovered significant home-cage hypoactivity, particularly in the dark (active) phase of the light/dark cycle, in male mice of all four ASD-associated transgenic models. For Cntnap2(-/-) and Pcdh10(+/-) mice, these activity alterations were sex-specific, as female mice did not exhibit home-cage activity differences relative to sex-matched WT controls. These home-cage hypoactivity alterations differ from activity findings previously reported using short-term activity measurements in a novel open field. Despite circadian problems reported in human ASD patients, none of the mouse models studied had alterations in free-running circadian period. Together, these findings highlight a shared phenotype across several monogenic mouse models of ASD, outline the importance of methodology on behavioral interpretation, and in some genetic lines parallel the male-enhanced phenotypic presentation observed in human ASDs.
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2. Foss-Feig JH, Velthorst E, Smith L, Reichenberg A, Addington J, Cadenhead KS, Cornblatt BA, Mathalon DH, McGlashan TH, Perkins DO, Seidman LJ, Stone WS, Keshavan M, Tsuang MT, Walker EF, Woods SW, Cannon TD, Bearden CE. {{Clinical Profiles and Conversion Rates Among Young Individuals With Autism Spectrum Disorder Who Present to Clinical High Risk For Psychosis Services}}. {J Am Acad Child Adolesc Psychiatry};2019 (Feb 20)
OBJECTIVE: The overlap versus independence of autism spectrum disorder (ASD) and schizophrenia is a topic that has garnered the attention of generations of clinicians and scientists. Although high rates of psychotic symptoms have been identified in individuals with ASD, the nature, prevalence, and prognostic significance of subclinical psychotic experiences in ASD remain poorly understood. METHOD: This study sought to compare baseline characteristics, clinical profiles, and conversion outcomes between young individuals at clinical high risk for psychosis (CHR) who presented with or without a prior ASD diagnosis during the second phase of the North American Prodrome Longitudinal Study (NAPLS, N=764). RESULTS: Patients with CHR and ASD (CHR/ASD+, n=26) tended to exhibit greater social and social cognitive difficulties, but expressed relatively similar levels of core psychosis symptoms to patients with CHR but no ASD (CHR/ASD-). Risk for conversion to co-occurring psychosis (18.2% CHR/ASD+ versus 16.8% CHR/ASD-) was equivalent between CHR/ASD+ and CHR/ASD- groups, and the NAPLS2 Psychosis Risk Calculator predicted conversion to psychosis equally well across groups. CONCLUSION: These results suggest that baseline psychosis symptoms, predictors of risk for conversion, and ultimate conversion rates are similar in patients with CHR with and without ASD. They further suggest that ASD must not be considered a mutually exclusive diagnosis when such youth present in CHR settings. Future research is needed to better track trajectories in larger cohorts of individuals with CHR and comorbid ASD and to understand whether treatment recommendations effective in the broader CHR population are useful for this particular population as well.
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3. Jahromi LB, Chen Y, Dakopolos AJ, Chorneau A. {{Delay of gratification in preschoolers with and without autism spectrum disorder: Individual differences and links to executive function, emotion regulation, and joint attention}}. {Autism};2019 (Feb 22):1362361319828678.
This study examined delay of gratification behaviors in preschool-aged children with and without autism spectrum disorder. Recent research has found that elementary-aged children with autism spectrum disorder showed challenges with delay of gratification and that there were individual differences in terms of children’s behaviors during the wait. We extend this work to a younger sample of children with autism spectrum disorder to understand whether these difficulties emerge by the preschool years. Moreover, we assessed whether individual differences in other key self-regulatory capacities (i.e. effortful control, emotion regulation, executive function, and joint attention) were related to delay of gratification wait durations or behavioral strategies. Findings revealed that preschoolers with autism spectrum disorder waited for a shorter duration, demonstrated more temptation-focused behaviors, and expressed less positive affect than their typical peers during the delay of gratification task. At the full-sample level, individual differences in children’s temptation-focused behaviors (i.e. visual attention and verbalizations focused on the temptation) were related to children’s executive function, joint attention, and parents’ ratings of emotion regulation. When we examined associations within groups, the associations were not significant for the autism spectrum disorder group, but for typically developing children, there was a positive association between temptation-focused behaviors and emotion regulation.
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4. Kumazaki H, Muramatsu T, Yoshikawa Y, Corbett BA, Matsumoto Y, Higashida H, Yuhi T, Ishiguro H, Mimura M, Kikuchi M. {{Job interview training targeting nonverbal communication using an android robot for individuals with autism spectrum disorder}}. {Autism};2019 (Feb 22):1362361319827134.
Job interviews are significant barriers for individuals with autism spectrum disorder because these individuals lack good nonverbal communication skills. We developed a job interview training program using an android robot. The job interview training program using an android robot consists the following three stages: (1) tele-operating an android robot and conversing with others through the android robot, (2) a face-to-face mock job interview with the android robot, and (3) feedback based on the mock job interview and nonverbal communication exercises using the android robot. The participants were randomly assigned to the following two groups: one group received a combined intervention with « interview guidance by teachers and job interview training program using an android robot » ( n = 13), and the other group received an intervention with interview guidance by teachers alone ( n = 16). Before and after the intervention, the participants in both groups underwent a mock job interview with a human interviewer, who provided outcome measurements of nonverbal communication, self-confidence, and salivary cortisol. After the training sessions, the participants who received the combined interview guidance by teachers and the job interview training program using an android robot intervention displayed improved nonverbal communication skills and self-confidence and had significantly lower levels of salivary cortisol than the participants who only received interview guidance by teachers. The job interview training program using an android robot improved various measures of job interview skills in individuals with autism spectrum disorder.
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5. Kyriakopoulos M. {{Editorial: Autism Spectrum Disorders in Individuals at Clinical High Risk for Psychosis: Possible Association With Social Deficits but Not Conversion Rates}}. {J Am Acad Child Adolesc Psychiatry};2019 (Feb 20)
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6. Landes SD, Stevens JD, Turk MA. {{Obscuring effect of coding developmental disability as the underlying cause of death on mortality trends for adults with developmental disability: a cross-sectional study using US Mortality Data from 2012 to 2016}}. {BMJ Open};2019 (Feb 24);9(2):e026614.
OBJECTIVE: To determine whether coding a developmental disability as the underlying cause of death obscures mortality trends of adults with developmental disability. DESIGN: National Vital Statistics System 2012-2016 US Multiple Cause-of-Death Mortality files. SETTING: USA. PARTICIPANTS: Adults with a developmental disability indicated on their death certificate aged 18 through 103 at the time of death. The study population included 33 154 adults who died between 1 January 2012 and 31 December 2016. PRIMARY OUTCOME AND MEASURES: Decedents with a developmental disability coded as the underlying cause of death on the death certificate were identified using the International Statistical Classification of Diseases and Related Health Problems, Tenth Revision code for intellectual disability, cerebral palsy, Down syndrome or other developmental disability. Death certificates that coded a developmental disability as the underlying cause of death were revised using a sequential underlying cause of death revision process. RESULTS: There were 33 154 decedents with developmental disability: 7901 with intellectual disability, 11 895 with cerebral palsy, 9114 with Down syndrome, 2479 with other developmental disabilities and 1765 with multiple developmental disabilities. Among all decedents, 48.5% had a developmental disability coded as the underlying cause of death, obscuring higher rates of choking deaths among all decedents and dementia and Alzheimer’s disease among decedents with Down syndrome. CONCLUSION: Death certificates that recorded the developmental disability in Part I of the death certificate were more likely to code disability as the underlying cause of death. While revising these death certificates provides a short-term corrective to mortality trends for this population, the severity and extent of this problem warrants a long-term change involving more precise instructions to record developmental disabilities only in Part II of the death certificate.
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7. Mitra M, Akobirshoev I, Parish SL, Valentine A, Clements KM, Moore Simas TA. {{Postpartum emergency department use among women with intellectual and developmental disabilities: a retrospective cohort study}}. {J Epidemiol Community Health};2019 (Feb 22)
BACKGROUND: An emerging body of evidence underscores the often-intensive perinatal healthcare needs of women with intellectual and developmental disabilities (IDD). However, population-based research examining postpartum experiences of US women with IDD is sparse. We examined emergency department (ED) use in the postpartum period among Massachusetts mothers with IDD. METHODS: We analysed 2002-2010 Massachusetts Pregnancy to Early Life Longitudinal data to compare any and >/=2 ED visits between mothers with and without IDD: within 1-42 days post partum, 1-90 days post partum and 1-365 days post partum. We also determined whether or not such ED use was non-urgent or primary-care sensitive. RESULTS: We identified 776 births in women with IDD and 595 688 births in women without IDD. Across all three postpartum periods, women with IDD were vastly more likely to have any postpartum ED use, to have >/=2 ED visits and to have ED visits for mental health reasons. These findings persisted after controlling for numerous sociodemographic and clinical characteristics. Women with IDD were less likely to have non-urgent ED visits during the three postpartum periods and they were less likely to have primary-care sensitive ED visits during the postpartum period. CONCLUSION: These findings contribute to the emerging research on perinatal health and healthcare use among women with IDD. Further research examining potential mechanisms behind the observed ED visit use is warranted. High ED use for mental health reasons among women with IDD suggests that their mental health needs are not being adequately met.
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8. Scahill L, Lecavalier L, Schultz RT, Evans AN, Maddox B, Pritchett J, Herrington J, Gillespie S, Miller J, Amoss RT, Aman MG, Bearss K, Gadow K, Edwards MC. {{Development of the Parent-Rated Anxiety Scale for Youth with Autism Spectrum Disorder}}. {J Am Acad Child Adolesc Psychiatry};2019 (Feb 20)
OBJECTIVE: Anxiety is common in youth with autism spectrum disorder (ASD). There is no accepted outcome measure for anxiety in this population. METHOD: Following a series of focus groups with parents of youth with ASD, we generated 72 items (scored 0-3). Parents of 990 youth with ASD (age 5-17; 80.8% male youth) completed an online survey. Factor analysis and item response theory (IRT) analyses reduced the content to a single factor with 25 items. Children with a least mild anxiety (N=116; age 5-17; 79.3% male youth) participated in a comprehensive clinical assessment to evaluate validity and reliability of the 25-item Parent-rated Anxiety Scale for ASD (PRAS-ASD). RESULTS: In the online sample, the mean PRAS-ASD score was 29.04 +/- 14.9 (range 0 to 75). Coefficient alpha was 0.93. The IRT results indicated excellent reliability across a wide range of scores with low standard errors. In the clinical sample (N=116), the PRAS-ASD mean was 31.0 +15.6 (range 1-65). Pearson correlations with parent ratings of ASD symptom severity, repetitive behavior and disruptive behavior ranged 0.33 to 0.66 supporting divergent validity of the PRAS-ASD. Pearson correlation with a parent-rated measure of anxiety used in the general pediatric population of 0.83 supported convergent validity. Forty participants (32 boys, 8 girls; mean age of 11.9 + 3.4) returned at Time 2 (mean =12.2 days) and Time 3 (mean = 24.2 days). Intraclass correlation showed test-retest reliabilities of 0.88 and 0.86 at Time 2 and Time 3, respectively. CONCLUSION: The 25-item PRAS-ASD is a reliable and valid scale for measuring anxiety in youth with ASD.
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9. Stefano V, Eleonora N, Viviana C, Deny M, Viola A, Sara L, Antonio N, Marco T. {{Copy number variants in autism spectrum disorders}}. {Prog Neuropsychopharmacol Biol Psychiatry};2019 (Feb 20)
In recent years, there has been an explosive increase in genetic studies related to autism spectrum disorder (ASD). This implicated the accumulation of a large amount of molecular data that may be used to verify various hypotheses and models developed to explore the complex genetic component of ASD. Several lines of evidence support the view that structural genomic variation contributes to the pathogenesis of ASD. The introduction of more sophisticated techniques for whole-genome screening, including array comparative genome hybridization and high-resolution single nucleotide polymorphism analysis, has allowed to identify an increasing number of ASD susceptibility loci. Copy number variants (CNVs) are the most common type of structural variation in the human genome and are considered important contributors to the pathogenesis of neurodevelopmental disorders, including ASD. In this review, we describe the accumulated evidence concerning the genetic events associated with ASD, and summarize current knowledge about the clinical relevance of CNVs in these disorders.
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10. Swed-Tobia R, Haj A, Militianu D, Eshach O, Ravid S, Weiss R, Aviel YB. {{Highly Selective Eating in Autism Spectrum Disorder Leading to Scurvy: A Series of Three Patients}}. {Pediatr Neurol};2018 (Dec 28)
BACKGROUND: Some children with autism spectrum disorder (ASD) have highly specific food selectivity and therefore are prone to nutritional deficiencies of different kinds. PATIENTS: We document three children with ASD who presented with refusal to walk and gingivitis who underwent comprehensive evaluations before establishing the diagnosis of vitamin C deficiency (scurvy). The symptoms resolved after treatment with vitamin C. CONCLUSIONS: Prevention of nutritional deficiencies in children with ASD is essential, and providing multivitamin supplementation whenever high food selectivity is noted may prevent significant morbidity.
