Pubmed du 08/01/22
1. Bearss K, Tagavi D, Lyon AR, Locke J. Iterative redesign of a caregiver-mediated intervention for use in educational settings. Autism : the international journal of research and practice. 2022; 26(3): 666-77.
Teachers often report concerns about behavior challenges in their students with autism spectrum disorder (ASD) in the school setting. Furthermore, teachers often report that they do not have adequate training in how to manage these challenging behaviors effectively. The RUBI program is an intervention initially developed for parents of children with ASD and co-occurring challenging behavior in clinic settings. The present project used school staff input to systematically redesign RUBI to be used with educators in schools. School staff gave input at multiple stages of development to ensure the adapted intervention was appropriate to use in a school setting. Responses were coded and analyzed to identify strengths and weaknesses of the RUBI manual in schools and adaptations were made accordingly. Scores of how appropriate, possible, likable, and usable RUBI would be in schools rose after the intervention was redesigned. The redesigned RUBIES manual may give school staff the tools they need to manage disruptive behaviors. In addition, collaborating with providers over multiple stages to redesign established interventions for new contexts may be a promising way to help bring research tools to practice in the future.
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2. Brillet L, Peries M, Vernhet C, Rattaz C, Michelon C, Baghdadli A. Dyadic Effect of Coping on the Perceived Impact of ASD of Children on Parental Quality of Life: Report from the ELENA Cohort. Journal of autism and developmental disorders. 2022.
Autism spectrum disorder (ASD) has a significant impact on the quality of life (QoL) of families. This study aimed to examine, for parents of children with ASD, the dyadic effect of each parent’s coping strategy on the perception of the impact of ASD on their QoL. In total, 164 couples completed self-report questionnaires, including the Par-DD-QoL, to evaluate the parental perception of QoL. Results from the actor-partner interdependence model showed that, in addition to the effect of the mothers’ and fathers’ emotion-focused coping on their own perception of QoL, the mothers’ emotion-focused coping plays a key role in the fathers’ perception of QoL. These findings suggest that both parents of children with ASD would benefit from couple-focused interventions.
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3. Davidson MM, Fleming KK. Story Comprehension Monitoring Across Visual, Listening, and Written Modalities in Children with and Without Autism Spectrum Disorder. Journal of autism and developmental disorders. 2022.
Visual, as compared to verbal, tasks are often assumed to be easier for individuals with autism spectrum disorder (ASD), but is this true for story comprehension? This study evaluated story comprehension monitoring across visual, listening, and written modalities and assessed predictors in two closely matched groups (age, socioeconomic status, language, nonverbal cognition, and word reading) of children and adolescents (8-14 years) with ASD (n = 20) and typical development (typically developing [TD]; n = 20). The results of mixed-effects models indicated that story comprehension monitoring was low overall, and performance was comparable across visual, listening, and written modalities for participants with ASD. Age, vocabulary, nonverbal working memory, response and distractor inhibition, and social communication significantly predicted comprehension monitoring.
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4. Edmunds SR, Frost KM, Sheldrick RC, Bravo A, Straiton D, Pickard K, Grim V, Drahota A, Kuhn J, Azad G, Pomales Ramos A, Ingersoll B, Wainer A, Ibanez LV, Stone WL, Carter A, Broder-Fingert S. A method for defining the CORE of a psychosocial intervention to guide adaptation in practice: Reciprocal imitation teaching as a case example. Autism : the international journal of research and practice. 2022; 26(3): 601-14.
Interventions that support social communication include several « components, » or parts (e.g. strategies for working with children and families, targeting specific skills). Some of these components may be essential for the intervention to work, while others may be recommended or viewed as helpful but not necessary for the intervention to work. « Recommended » components are often described as « adaptable » because they can be changed to improve fit in different settings where interventions are offered or with different individuals. We need to understand which parts of an intervention are essential (and which are adaptable) when translating interventions from research to community settings, but it is challenging to do this before studying an intervention in the community. This article presents the CORE (COmponents & Rationales for Effectiveness) Fidelity Method-a new method for defining the essential components of evidence-based interventions-and applies it to a case example of Reciprocal Imitation Teaching, an intervention that parents are taught to deliver with their young children with social communication delays. The CORE Fidelity Method involves three steps: (1) gathering information from multiple sources; (2) integrating information from previous research and theory; and (3) drafting a CORE model for ongoing use. The benefits of using the CORE Fidelity Method may include: (1) improving consistency in intervention and research materials to help all providers emphasize the most important skills or strategies; (2) clarifying which parts of the intervention can be adapted; and (3) supporting future research that evaluates which intervention components work and how they work.
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5. Elkhatib Smidt SD, Gooneratne N, Brodkin ES, Bucan M, Mitchell JA. Sufficient sleep duration in autistic children and the role of physical activity. Autism : the international journal of research and practice. 2022; 26(4): 814-26.
Higher levels of physical activity may be associated with improved sleep in children, but this relationship is still being determined, especially in autistic children. In this study, we used existing data from the 2018 National Survey of Children’s Health. Caregivers of children 6-17 years old, including caregivers of autistic children, completed a questionnaire that included questions about physical activity (days active in the past week) and sleep duration. We then determined if children were obtaining the recommended hours of sleep for their age (i.e. sufficient sleep). We found that higher physical activity levels were associated with sufficient sleep duration, but this finding was weaker in autistic children. In particular, this association was not observed in autistic children with more severe autism spectrum disorder, female autistic children, and autistic children 6-12 years old. In conclusion, physical activity is a promising approach to help children obtain sufficient sleep duration. However, more personalized approaches to improving sleep may be needed for certain groups of autistic children.
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6. F NG, McCarthy E, Murphy DN, Gallagher L, Lopez LM. Brief Report: Evaluating the Diagnostic Yield of Commercial Gene Panels in Autism. Journal of autism and developmental disorders. 2022.
Autism is a prevalent neurodevelopmental condition, highly heterogenous in both genotype and phenotype. This communication adds to existing discussion of the heterogeneity of clinical sequencing tests, « gene panels », marketed for application in autism. We evaluate the clinical utility of available gene panels based on existing genetic evidence. We determine that diagnostic yields of these gene panels range from 0.22% to 10.02% and gene selection for the panels is variable in relevance, here measured as percentage overlap with SFARI Gene and ranging from 15.15% to 100%. We conclude that gene panels marketed for use in autism are currently of limited clinical utility, and that sequencing with greater coverage may be more appropriate.
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7. Gabis LV, Attia OL, Goldman M, Barak N, Tefera P, Shefer S, Shaham M, Lerman-Sagie T. The myth of vaccination and autism spectrum. European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society. 2022; 36: 151-8.
BACKGROUND: Among all of the studied potential causes of autism, vaccines have received some of the most scrutiny and have been the topic of many evidence-based studies. These efforts have led the great majority of scientists, physicians, and public health researchers to refute causation between vaccines and autism. RATIONALE: This presumed association and concern has been a major contributor to parents’ refusal to immunize their children and has become a major threat to public health in secluded populations over the last two decades, even prior to the COVID-19 pandemic. With the emergence of COVID-19 immunizations, sentiments towards this topic were addressed as a public health concern that may influence the ability to overcome the Corona virus worldwide. SCIENTIFIC REVIEW OF DATA: Despite the overwhelming data demonstrating that there is no link between vaccines and autism, many parents are hesitant to immunize their children because of the alleged association. Other contributing factors to the myths and conspiracy theories surrounding the association between vaccines and autism include the fact that the diagnosis of autism is typically made after the age of receiving the main childhood immunizations, as well as the occasional occurrence of regression after the age of first year vaccinations. In spite of vast evidence that the main contribution to the increase in incidence is from improvement of the diagnostic process, this rapid and publicized rise in autism diagnoses feeds parental concerns regarding any medical intervention that may be associated with the health of their children. RECOMMENDATIONS: It is plausible that with more evidence-based studies linking autism to specific etiologies the myth will diminish and disappear eventually. In an era where conspiracy theories are prevalent on social media, it is critical that evidence-based studies relating autism to specific etiologies be made public, and that information concerning autism diagnosis and causes be made more readily available through social media and parental organizations.
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8. Gu YY, Han Y, Liang JJ, Cui YN, Zhang B, Zhang Y, Zhang SB, Qin J. Sex-specific differences in the gut microbiota and fecal metabolites in an adolescent valproic acid-induced rat autism model. Frontiers in bioscience (Landmark edition). 2021; 26(12): 1585-98.
BACKGROUND: Alterations in the microbiota-gut-brain axis are associated with the onset of autism spectrum disorder (ASD). Numerous studies have reported that the gut microbiota (GM) is significantly altered in individuals with ASD and animal models of ASD. However, few studies have focused on sex-specific differences in the GM and fecal metabolites of ASD. METHODS: In this study, we performed 16S rRNA gene sequencing and untargeted metabolomics in parallel on fecal samples from a valproic acid (VPA)-induced rat model of autism (VPA rats). Based on these data, we analyzed differentially abundant metabolites in the Kyoto Encyclopedia of Genes and Genomes (KEGG) database to reveal the possible mechanism of ASD. Data derived from male and female rats were analyzed separately. Finally, we analyzed the correlation between characteristic genera and characteristic fecal metabolites in VPA rats of both sexes. RESULTS: The results showed that VPA rats of both sexes presented remarkable alterations in the GM and fecal metabolites. Sex-specific differences were noticeably detected. We identified 51 annotated differentially abundant fecal metabolites and 1 differentially enriched KEGG pathway between the male VPA and male control groups. Ruminococcus_2, Candidatus_Soleaferrea, Desulfovibrio, Candidatus_Saccharimonas, Intestinimonas, [Eubacterium]_xylanophilum_group, [Eubacterium]_brachy_group and [Bacteroides]_pectinophilus_group were the characteristic genera of male VPA rats. Between the female VPA and female control groups, 124 annotated differentially abundant fecal metabolites were identified without differentially enriched KEGG pathways. Ruminiclostridium, Acetatifactor, Desulfovibrio, [Eubacterium]_xylanophilum_group and Candidatus_Saccharimonas were the characteristic genera of female VPA rats. Correlation analysis revealed a tight relationship between the GM and fecal metabolites in VPA rats of both sexes. CONCLUSIONS: In conclusion, alterations in the GM and fecal metabolites in VPA rats showed sex-specific differences. The therapy for ASD might be different between sexes in the future.
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9. Hayashi W, Hanawa Y, Saga N, Nakamura D, Iwanami A. ASD symptoms in adults with ADHD: a comparative study using ADOS-2. European archives of psychiatry and clinical neuroscience. 2022.
In this study, we examined autism spectrum disorder (ASD) symptoms in adults with attention-deficit hyperactivity disorder (ADHD) in comparison with normal controls using the Autism Diagnostic Observation Schedule, Second Edition (ADOS-2). Sixty-three adults with ADHD (mean age, 35.3 years; 38 men) and 31 controls (mean age, 38.7 years; 17 men) completed Module 4 of the ADOS-2, Autism Spectrum Quotient, Conners’ Adult ADHD Rating Scale, and Wechsler Adult Intelligence Scale, Third Edition. Adults with ADHD were not clinically diagnosed with ASD, and their ADHD diagnosis was based on the Diagnostic and Statistical Manual of Mental Disorders, Fifth Edition criteria. Between-group comparisons on the scoring patterns revealed significant ASD symptoms present in adults with ADHD, which was congruent with our previous study. Further, item level and correlation analyses showed the possibility that ASD symptoms in adult ADHD comprised of two distinct mechanisms, one qualitatively similar to ASD and the other arising from ADHD characteristics, highlighting the complex nature of ADHD-ASD symptom overlaps.
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10. Husebye ESN, Wendel AWK, Gilhus NE, Riedel B, Bjørk MH. Plasma unmetabolized folic acid in pregnancy and risk of autistic traits and language impairment in antiseizure medication-exposed children of women with epilepsy. The American journal of clinical nutrition. 2022; 115(5): 1432-40.
BACKGROUND: Fetal exposure to unmetabolized folic acid (UMFA) during pregnancy may be associated with adverse neurodevelopment. Antiseizure medication (ASM) may interact with folate metabolism. Women with epilepsy using ASM are often recommended high-dose folic acid supplement use during pregnancy. OBJECTIVES: The aim was to determine the association between UMFA concentrations in pregnant women with epilepsy using ASM and risk of autistic traits or language impairment in their children aged 1.5-8 y. METHODS: We included children of women with epilepsy using ASM and with plasma UMFA measurement enrolled in the Norwegian Mother, Father, and Child Cohort Study (MoBa). Data on ASM use, folic acid supplement use, autistic traits, and language impairment were obtained from parent-reported questionnaires during pregnancy and when the child was 1.5, 3, 5, and 8 y old. Plasma UMFA concentrations were measured during gestational weeks 17-19. RESULTS: A total of 227 ASM-exposed children of 203 women with epilepsy were included. Response rates at ages 1.5, 3, 5, and 8 y were 67% (n = 151), 54% (n = 122), 36% (n = 82), and 37% (n = 85), respectively. For 208 (94%) children, the mother reported intake of folic acid supplement. There was no association between UMFA concentrations and autistic traits score in the adjusted multiple regression analyses at age 3 y (unstandardized B: -0.01; 95% CI: -0.03, 0.004) or 8 y (unstandardized B: 0.01; 95% CI: -0.02, 0.03). Children exposed to UMFA had no increased risk of autistic traits at age 3 y [adjusted OR (aOR): 0.98; 95% CI: 0.2, 4.2] or 8 y (aOR: 0.1; 95% CI: 0.01, 1.4) compared with unexposed children. We found no association between UMFA concentrations and language impairment in children aged 1.5-8 y. CONCLUSIONS: Our findings do not support any adverse neurodevelopmental effects of UMFA exposure in utero in children of women with epilepsy using ASM.
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11. Kuhn J, Szidon K, Kraemer B, Steinbrenner JR, Tomaszewski B, Hume K, DaWalt L. Implementation of a multi-family autism transition program in the high school setting. Autism : the international journal of research and practice. 2022; 26(3): 615-27.
Transitioning Together is an intervention that supports families of adolescents on the autism spectrum as they prepare for the transition to adulthood. While it has been delivered successfully and shown to result in positive outcomes for families in the university setting, questions remain about whether and how well it can be widely provided to families in real-world settings such as high schools. In this study, we analyzed predictors, facilitators, and barriers to providing Transitioning Together to families at 30 high schools across three US states, all of which received training from a team of researchers to deliver this intervention. Our findings highlight struggles and successes with real-world use of the intervention. Seventeen of the 30 schools were successful in providing Transitioning Together to families. Schools who had higher community socioeconomic status, higher quality family involvement, and higher quality transition planning programming before changing anything for this study were much more likely to provide this new intervention to families. Schools who used the intervention were mostly able to deliver it as designed and received positive feedback from families who participated. Common parts of the intervention that schools struggled with most included following the structure of the sessions, including group problem-solving and dialogue in the sessions, and collecting feedback from families. Future research is needed to learn how to make it even easier for public high schools and other service systems to provide this intervention to families, in a way that also maximizes its effectiveness and accessibility for historically underserved autism spectrum populations.
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12. Nyrenius J, Eberhard J, Ghaziuddin M, Gillberg C, Billstedt E. Prevalence of Autism Spectrum Disorders in Adult Outpatient Psychiatry. Journal of autism and developmental disorders. 2022.
Relatively little has been published about the prevalence of autism in adults with psychiatric disorders. In this study, all new patients referred to an adult psychiatric outpatient clinic in Sweden between November 2019 and October 2020 (n = 562) were screened for autism spectrum disorders using the Ritvo Autism and Asperger Diagnostic Scale Screen (RAADS-14). Out of the 304 (58%) responders, 197 who scored above the cut off (14) were invited to participate in an in-depth assessment. Twenty-six of the 48 that participated in the assessment met criteria for ASD and an additional eight had subthreshold ASD symptoms. We estimated the prevalence of ASD in this population to at least 18.9%, with another 5-10% having subthreshold symptoms.
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13. Ochojska D, Pasternak J. Diagnostic errors in autism spectrum disorder and their consequences – case studies. Psychiatria polska. 2021; 55(4): 787-99.
This article provides an assessment of the problem of diagnostic errors in autism spectrum disorder. The fact that awareness of autism is on the increase has led to the emergence of a growing number of specialists, as well as other people professionally involved in education and the care of children, who have been noticing features of autistic disorders in ever-younger children. On the one hand, this is certainly beneficial in that the level of knowledge about the symptoms of autism spectrum disorder (ASD) is conducive to the identification of children’s difficulties; on the other, however, there are concerns that the knowledge possessed by many of those who come into contact with children is often insufficient to diagnose this subtle and changing spectrum of disorders. Neurodevelopmental disorders are especially difficult to assess in small children due to the overlapping symptoms of various disorders. Additionally, periods of intensive development or regression also overlap. Children aged two or three are still too young to exhibit some of the behaviors specific to ASD, and the assessment of speech development and its understanding may be deceptive. The diagnosis of « under observation for possible autism » is often exaggerated. The article presents case studies concerning diagnostic errors in autism spectrum disorder, their consequences and vital conclusions.
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14. Pickles K. Call for autistic vets to participate in study. The Veterinary record. 2022; 190(1): 40.
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15. Stewart GR, Corbett A, Ballard C, Creese B, Aarsland D, Hampshire A, Charlton RA, Happé F. Traumatic life experiences and post-traumatic stress symptoms in middle-aged and older adults with and without autistic traits. International journal of geriatric psychiatry. 2022; 37(2).
OBJECTIVES: Research with younger adults has begun to explore associations between autism/autistic traits and vulnerability to Post Traumatic Stress Disorder (PTSD). Large scale studies and/or examination of age-effects have not been conducted. METHODS: Adults aged 50 years+ from the PROTECT study (n = 20,220) completed items about current and childhood socio-communicative difficulties characteristic of autism. Approximately 1% (n = 251) endorsed high autistic traits, henceforth the Autism Spectrum Traits (AST) group. Differences between the AST and an age-and sex-matched « Comparison Older Adults » (COA; n = 9179) group were explored for lifetime traumatic experiences and current symptoms of PTSD, depression, and anxiety. RESULTS: Almost 30% of the AST group, compared to less than 8% of the COA, reported severe trauma in childhood/adulthood, including emotional, physical or sexual abuse. Elevated current PTSD symptoms were reported by AST compared to COA. An interaction was observed between autistic traits and trauma severity; the effect of level of trauma on PTSD symptoms was significantly greater for AST versus COA participants. This interaction remained significant when controlling for current depression and anxiety symptoms. CONCLUSIONS: The findings suggest that high autistic traits may increase the likelihood of experiencing trauma across the lifespan, and the impact of severe trauma on PTSD symptoms. Older adults with high (vs. low) autistic traits may be at greater risk of experiencing PTSD symptoms in latter life. Future research should test whether the pattern of results is similar for diagnosed autistic adults.
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16. Szamburska-Lewandowska K, Konowałek Ł, Bryńska A. Theory of Mind deficits in childhood mental and neurodevelopmental disorders. Psychiatria polska. 2021; 55(4): 801-13.
Theory of mind (ToM) is a complex cognitive mechanism which refers to our ability to understand that other people have beliefs, plans, desires, hopes, intentions, and knowledge that may differ from our own mental and emotional states. Theory of mind is critical for social and interpersonal functioning and allows people to make sense of other’s behavior. Theinitial aim of theory of mind research was to record normative development in preschool age children. Almost 30 years ago, when researchers discovered that theory of mind is altered in individuals with autism spectrum disorder, they also explored impairments in ToM in different clinical disorders. Research results indicate the presence of ToM deficits in childhood mental and neurodevelopmental disorders, such as: autism spectrum disorders, attention deficit hyperactivity disorder, oppositional defiant disorder, Gilles de la Tourette Syndrome, fetus alcohol syndrome, mood disorders, eating disorders, or obsessive-compulsive disorder. This article reviews significant studies of theory of mind impairments in individual childhood disorders and selected mental disorders.
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17. Taylor J, Avellone L, Brooke V, Wehman P, Inge K, Schall C, Iwanaga K. The impact of competitive integrated employment on economic, psychological, and physical health outcomes for individuals with intellectual and developmental disabilities. Journal of applied research in intellectual disabilities : JARID. 2022; 35(2): 448-59.
BACKGROUND: Although competitive integrated employment (CIE) has been established as a goal of employment research, policy, and practice for individuals with intellectual and developmental disabilities, the secondary benefits of CIE are rarely discussed. AIMS: The purpose of this systematic review was to analyze and synthesise research related to the association between CIE and improved economic, psychological health, and physical health outcomes for individuals with intellectual and developmental disabilities. MATERIALS & METHODS: Our review searched peer-reviewed literature from seven electronic databases and screened 1110 peer-reviewed articles based on inclusion criteria established following PRISMA guidelines. RESULTS: Our search procedures produced a final sample of 17 studies. DISCUSSION: Implications of these findings for future research, policy, and practice are provided. CONCLUSION: Our findings showed strong evidence associated with economic outcomes of CIE, moderate associated with psychological health outcomes, and limited evidence related to physical health outcomes.
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18. Wang J, Foroutan A, Richardson E, Skinner SA, Reilly J, Kerkhof J, Curry CJ, Tarpey PS, Robertson SP, Maystadt I, Keren B, Dixon JW, Skinner C, Stapleton R, Ruaud L, Gumus E, Lakeman P, Alders M, Tedder ML, Schwartz CE, Friez MJ, Sadikovic B, Stevenson RE. Clinical findings and a DNA methylation signature in kindreds with alterations in ZNF711. European journal of human genetics : EJHG. 2022; 30(4): 420-7.
ZNF711 is one of eleven zinc-finger genes on the X chromosome that have been associated with X-linked intellectual disability. This association is confirmed by the clinical findings in 20 new cases in addition to 11 cases previously reported. No consistent growth aberrations, craniofacial dysmorphology, malformations or neurologic findings are associated with alterations in ZNF711. The intellectual disability is typically mild and coexisting autism occurs in half of the cases. Carrier females show no manifestations. A ZNF711-specific methylation signature has been identified which can assist in identifying new cases and in confirming the pathogenicity of variants in the gene.
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19. Welberg L. Diet drives altered microbiota in autism. Nature neuroscience. 2022; 25(1): 2.
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20. Zhang Z, Zhao Y. Progress on the roles of MEF2C in neuropsychiatric diseases. Molecular brain. 2022; 15(1): 8.
Myocyte Enhancer Factor 2 C (MEF2C), one of the transcription factors of the MADS-BOX family, is involved in embryonic brain development, neuronal formation and differentiation, as well as in the growth and pruning of axons and dendrites. MEF2C is also involved in the development of various neuropsychiatric disorders, such as autism spectrum disorders (ASD), epilepsy, schizophrenia and Alzheimer’s disease (AD). Here, we review the relationship between MEF2C and neuropsychiatric disorders, and provide further insights into the mechanism of these diseases.