Pubmed du 19/01/21
1. Acar S, Chen CI, Xie H. Parental involvement in developmental disabilities across three cultures : A systematic review. Res Dev Disabil ;2021 (Jan 19) ;110:103861.
BACKGROUND : Parents play a critical role in the early intervention/early childhood special education (EI/ECSE) services provided to young children (birth-6 years) with developmental disabilities. AIM : The aim of this systematic review was to explore parental involvement in developmental disabilities across three cultures : Mainland China, Taiwan, and Turkey. METHOD : According to PRISMA guidelines, we searched for articles indexed in EBSCOhost, PsycINFO, and PubMed published within the last decade for one culture (i.e., Mainland China, Taiwan, and Turkey), using the following keywords : family/parent involvement/engagement, developmental disability/disabilities, young child/children, EI/ECSE, and culture. RESULTS : Twenty-four empirical studies were identified as relevant to our research. A majority of articles reported maternal involvement in EI/ECSE, and only a few studies included parents as intervention agents. CONCLUSIONS : This review highlights the need for future research to investigate effects of culture on parental involvement and develop culturally responsive methodical approaches to underpin meaningful parental involvement in EI/ECSE.
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2. Arciuli J, Bailey B. The Promise of Comprehensive Early Reading Instruction for Children With Autism and Recommendations for Future Directions. Lang Speech Hear Serv Sch ;2021 (Jan 19) ;52(1):225-238.
Purpose Children with autism have an increased likelihood of reading difficulties. The reasons for this are numerous and varied, but many children with autism can learn to read when they are provided with evidence-based early reading instruction. Method Here, we provide an overview of some of the factors that impact early reading development for children with autism and a rationale for the provision of comprehensive early reading instruction consistent with the recommendations of the National Reading Panel (NRP). We discuss research on NRP instruction for children with autism, including some of our own empirical studies. We also discuss some areas of research that were not emphasized by the NRP but that we view as important. We offer recommendations that extend beyond NRP guidelines in order to advance knowledge and improve practice. Conclusions Comprehensive early reading instruction holds great promise for children with autism, but there are gaps in our understanding that need to be addressed. These include the most effective method(s) for tailoring reading instruction to the needs of the individual while optimizing delivery to small groups of children, supporting skills and making other accommodations not outlined by the NRP, and consideration of bilingualism and of reading instruction in languages other than English, among other issues. While our focus in this review article is early reading instruction for children with autism who use oral language, we acknowledge that there is a major gap in the literature concerning reading instruction for those who do not use oral language. We hope that this review article will be helpful to clinicians, educators, and researchers alike, as well as children with autism and their families, friends, and support networks.
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3. Borie AM, Dromard Y, Guillon G, Olma A, Manning M, Muscatelli F, Desarménien MG, Jeanneteau F. Correction of vasopressin deficit in the lateral septum ameliorates social deficits of mouse autism model. J Clin Invest ;2021 (Jan 19) ;131(2)
Intellectual and social disabilities are common comorbidities in adolescents and adults with MAGE family member L2 (MAGEL2) gene deficiency characterizing the Prader-Willi and Schaaf-Yang neurodevelopmental syndromes. The cellular and molecular mechanisms underlying the risk for autism in these syndromes are not understood. We asked whether vasopressin functions are altered by MAGEL2 deficiency and whether a treatment with vasopressin could alleviate the disabilities of social behavior. We used Magel2-knockout mice (adult males) combined with optogenetic or pharmacological tools to characterize disease modifications in the vasopressinergic brain system and monitor its impact on neurophysiological and behavioral functions. We found that the activation of vasopressin neurons and projections in the lateral septum were inappropriate for performing a social habituation/discrimination task. Mechanistically, the lack of vasopressin impeded the deactivation of somatostatin neurons in the lateral septum, which predicted social discrimination deficits. Correction of vasopressin septal content by administration or optogenetic stimulation of projecting axons suppressed the activity of somatostatin neurons and ameliorated social behavior. This preclinical study identified vasopressin in the lateral septum as a key factor in the pathophysiology of Magel2-related neurodevelopmental syndromes.
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4. Boyle S, McNaughton D, Light J, Babb S, Chapin SE. The Effects of Shared e-Book Reading With Dynamic Text and Speech Output on the Single-Word Reading Skills of Young Children With Developmental Disabilities. Lang Speech Hear Serv Sch ;2021 (Jan 19) ;52(1):426-435.
Purpose This study investigated the use of a new software feature, namely, dynamic text with speech output, on the acquisition of single-word reading skills by six children with developmental disabilities during shared e-book reading experiences with six typically developing peers. Method A single-subject, multiple-probe design across participants was used to evaluate the effects of the software intervention. Six children with developmental delays were the primary focus for intervention, while six children with typical development participated as peer partners in intervention activities. e-Books were created with the new software feature, in which a child selects a picture from the e-book and the written word is presented dynamically and then spoken out. These e-books were then used in shared reading activities with dyads including a child with a disability and a peer with typical development. Participants engaged in the shared reading activity for an average of 13 sessions over a 6-week time period, an average of 65 min of intervention for each dyad. Results Participants with disabilities acquired an average of 73% of the words to which they were exposed, a gain of 4.3 words above the baseline average of 1.7 correct responses. The average effect size (Tau-U) was .94, evidence of a very large effect. Conclusion The results provide evidence that the use of e-books with the dynamic text and speech output feature during inclusive shared reading activities can be an effective and socially valid method to develop the single-word reading skills of young children with developmental disabilities.
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5. Brien A, Hutchins TL, Westby C. Autobiographical Memory in Autism Spectrum Disorder, Attention-Deficit/Hyperactivity Disorder, Hearing Loss, and Childhood Trauma : Implications for Social Communication Intervention. Lang Speech Hear Serv Sch ;2021 (Jan 19) ;52(1):239-259.
Purpose Speech-language pathologists (SLPs) work with a variety of populations at risk for poor autobiographical and episodic memory. The purpose of this tutorial is to describe autobiographical memory and how it is affected in children with autism spectrum disorder, attention-deficit/hyperactivity disorder, hearing loss, and childhood trauma, as well as provide clinicians with practical strategies for supporting autobiographical memory in each of these clinical populations. Method This tutorial reviews the literature on (a) autobiographical and episodic memory in typical development ; (b) its relation to theory of mind, personal narrative skills, and executive functions ; (c) elaborative reminiscing in typical development ; (d) how autobiographical memory is impaired in children with autism spectrum disorder, attention-deficit/hyperactivity disorder, hearing loss, and childhood trauma ; and (e) strategies for supporting autobiographical memory in each clinical population. Conclusions When adequately prepared, SLPs are uniquely situated to address autobiographical and episodic memory in their work with children, families, and related professionals. This is a long-overdue focus of such great clinical import that justifies its inclusion in the traditional training and preparation of SLPs. Adapting elaborative reminiscing strategies for use with various clinical populations is promising for facilitating healthy EM development and related cognitive functions.
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6. Hand BN, Gilmore D, Coury DL, Darragh AR, Moffatt-Bruce S, Hanks C, Garvin JH. Effects of a Specialized Primary Care Facility on Preventive Service Use Among Autistic Adults : a Retrospective Claims Study. J Gen Intern Med ;2021 (Jan 19)
BACKGROUND : While in some studies, the patient-centered medical home has been linked with increased receipt of preventive services among other populations, there is a paucity of literature testing the effectiveness of medical homes in serving the healthcare needs of autistic adults. OBJECTIVE : To compare the receipt of preventive services by patients at a patient-centered medical home specifically designed for autistic adults (called the Center for Autism Services and Transition « CAST ») to US national samples of autistic adults with private insurance or Medicare. DESIGN : Retrospective study of medical billing data. SAMPLE : The study sample included CAST patients (N = 490) who were propensity score matched to Medicare-enrolled autistic adults (N = 980) and privately insured autistic adults (N = 980) using demographic characteristics. The median age of subjects was 21 years old, 79% were male, and the median duration of observation was 2.2 years. MAIN MEASURES : The primary outcome measure was the receipt of any preventive service, as defined by the Medicare Learning Network and AAPC (formerly the American Academy of Professional Coders). Secondary outcome measures included receipt of specific preventive service types (i.e., general health and wellness services, screenings, counseling and therapies, vaccinations, and sexual/reproductive health services). KEY RESULTS : CAST patients had significantly greater odds of receiving any preventive service than Medicare-enrolled (OR = 10.3 ; 95% CI = 7.6-13.9) and privately insured (OR = 3.1 ; 95% CI = 2.3-4.2) autistic adults. CAST patients were also significantly more likely to receive screenings and vaccinations than either Medicare beneficiaries (screenings OR = 20.3 ; 95% CI = 14.7-28.0 ; vaccinations OR = 5.5 ; 95% CI = 4.3-7.0) or privately insured beneficiaries (screenings OR = 2.0 ; 95% CI = 1.6-2.5 ; vaccinations OR = 3.3 ; 95% CI = 2.6-4.1). CONCLUSIONS : Autistic adults receiving care through CAST were significantly more likely to recieve preventive care services than national samples of autistic adults. Future comparative effectiveness trials are needed to rigorously assess the impact of primary care-based initiatives to improve care for autistic adults.
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7. Hoffmann A, Spengler D. Chromatin Remodeler CHD8 in Autism and Brain Development. J Clin Med ;2021 (Jan 19) ;10(2)
Chromodomain Helicase DNA-binding 8 (CHD8) is a high confidence risk factor for autism spectrum disorders (ASDs) and the genetic cause of a distinct neurodevelopmental syndrome with the core symptoms of autism, macrocephaly, and facial dysmorphism. The role of CHD8 is well-characterized at the structural, biochemical, and transcriptional level. By contrast, much less is understood regarding how mutations in CHD8 underpin altered brain function and mental disease. Studies on various model organisms have been proven critical to tackle this challenge. Here, we scrutinize recent advances in this field with a focus on phenotypes in transgenic animal models and highlight key findings on neurodevelopment, neuronal connectivity, neurotransmission, synaptic and homeostatic plasticity, and habituation. Against this backdrop, we further discuss how to improve future animal studies, both in terms of technical issues and with respect to the sex-specific effects of Chd8 mutations for neuronal and higher-systems level function. We also consider outstanding questions in the field including ‘humanized’ mice models, therapeutic interventions, and how the use of pluripotent stem cell-derived cerebral organoids might help to address differences in neurodevelopment trajectories between model organisms and humans.
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8. Holingue C, Volk H, Crocetti D, Gottlieb B, Spira AP, Mostofsky SH. Links between parent-reported measures of poor sleep and executive function in childhood autism and attention deficit hyperactivity disorder. Sleep Health ;2021 (Jan 15)
OBJECTIVES : This study sought to assess whether poor sleep is associated with aspects of executive function (EF) among children with autism spectrum disorder (ASD), attention deficit hyperactivity disorder (ADHD), or typical development (TD), after adjusting for demographic variables, stimulant medications, intelligence, anxiety, inattention, and hyperactivity. DESIGN : Cross-sectional. SETTING : Children recruited through ongoing studies at the Kennedy Krieger Institute. PARTICIPANTS : We studied 735 children (323 TD ; 177 ASD ; 235 ADHD) aged 8 to 12 years. MEASUREMENTS : We investigated associations of parent-reported sleep measures from the Children’s Sleep Habits Questionnaire (CSHQ) with parent-report measures of EF and performance-based processing speed with each clinical population. EF was measured using 8 clinical T scores that fall under 2 domains (behavioral regulation and metacognition) from the Behavior Rating Inventory of EF (BRIEF) and the processing speed index from the Wechsler Intelligence Scale for Children-IV or -V. RESULTS : Higher CSHQ scores were associated with poorer EF on all BRIEF scales, across all child groups, after adjustment for demographic factors, stimulant medications, and IQ. Among children with ADHD, these associations largely remained after adjusting for anxiety. Among those ASD, anxiety partially accounted for these associations, especially for behavioral regulation EF outcomes. Co-occurring symptoms of inattention and hyperactivity/impulsivity further accounted for the associations between sleep and EF. Poor sleep was not significantly associated with processing speed. CONCLUSIONS : Strong links exist between parent-reported poor sleep and executive dysfunction in children with typical development. Targeting anxiety may alleviate executive dysfunction, especially among children with ASD.
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9. Ishizaki Y, Higuchi T, Yanagimoto Y, Kobayashi H, Noritake A, Nakamura K, Kaneko K. Eye gaze differences in school scenes between preschool children and adolescents with high-functioning autism spectrum disorder and those with typical development. Biopsychosoc Med ;2021 (Jan 18) ;15(1):2.
BACKGROUND : Children with autism spectrum disorder (ASD) may experience difficulty adapting to daily life in a preschool or school settings and are likely to develop psychosomatic symptoms. For a better understanding of the difficulties experienced daily by preschool children and adolescents with ASD, this study investigated differences in eye gaze behavior in the classroom environment between children with ASD and those with typical development (TD). METHODS : The study evaluated 30 children with ASD and 49 children with TD. Participants were presented with images of a human face and a classroom scene. While they gazed at specific regions of visual stimuli, eye tracking with an iView X system was used to evaluate and compare the duration of gaze time between the two groups. RESULTS : Compared with preschool children with TD, preschool children with ASD spent less time gazing at the eyes of the human face and the object at which the teacher pointed in the classroom image. Preschool children with TD who had no classroom experience tended to look at the object the teacher pointed at in the classroom image. CONCLUSION : Children with ASD did not look at the human eyes in the facial image or the object pointed at in the classroom image, which may indicate their inability to analyze situations, understand instruction in a classroom, or act appropriately in a group. This suggests that this gaze behavior of children with ASD causes social maladaptation and psychosomatic symptoms. A therapeutic approach that focuses on joint attention is desirable for improving the ability of children with ASD to adapt to their social environment.
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10. Kawamoto A, Kajiume A, Yoshida H, Toshima T, Kobayashi M. Individual Differences in Autistic Traits are Associated with Serotonin Transporter Gene Polymorphism Through Medial Prefrontal Function : A Study Using NIRS. Neuroscience ;2021 (Jan 16)
Autism spectrum disorder (ASD) is a heritable neurodevelopmental disorder that can vary considerably in severity. Autistic traits are distributed continuously across populations, even in sub-clinical individuals. Serotonin transporter-gene polymorphic region (5-HTTLPR) has been studied as a candidate genetic factor related to ASD, however results have been inconsistent. 5-HTTLPR is implicated in the function of medial prefrontal cortex (mPFC), a region associated with the social abnormalities found in ASD. Here we hypothesize that autistic traits are affected by the 5-HTTLPR genotype indirectly through mPFC mediation. Using near-infrared spectroscopy (NIRS), we first examined mPFC activation in people with ASD when they performed a facial affect-labeling task. Compared with a typical development group, the ASD group showed significantly lower mPFC activation during the task. Using the same task paradigm, we next investigated the relationship between autistic traits and 5-HTTLPR in sub-clinical participants, and whether associations were mediated by mPFC function. Correlation analyses indicated that participants with a large number of 5-HTTLPR L-alleles had high-level autistic traits related to social skills and low right mPFC activation. We also observed a significant negative correlation between autistic traits related to social skills and right mPFC activation. Structural equation analysis suggested a significant indirect effect of 5-HTTLPR on Autism-Spectrum Quotients, with right mPFC activation acting as a mediator. These results suggest that the diverse autistic traits related to social skills seen in the general population are associated with the 5-HTTLPR genotype, and that this association is mediated by right mPFC function.
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11. La Buissonnière Ariza V, Schneider SC, Cepeda SL, Wood JJ, Kendall PC, Small BJ, Wood KS, Kerns C, Saxena K, Storch EA. Predictors of Suicidal Thoughts in Children with Autism Spectrum Disorder and Anxiety or Obsessive-Compulsive Disorder : The Unique Contribution of Externalizing Behaviors. Child Psychiatry Hum Dev ;2021 (Jan 18)
Children with autism spectrum disorder (ASD) are at elevated risk of suicidal ideation, particularly those with comorbid anxiety disorders and/or obsessive-compulsive disorder (OCD). We investigated the risk factors associated with suicidal ideation in 166 children with ASD and comorbid anxiety disorders/OCD, and the unique contribution of externalizing behaviors. Suicidal ideation was reported in the child sample by 13% of parents. Controlling for child age, sex, and IQ, perceived loneliness positively predicted the likelihood of suicidal ideation. In addition, externalizing behaviors positively predicted suicidal ideation, controlling for all other factors. Reliance on parental report to detect suicidal ideation in youth with ASD is a limitation of this study. Nonetheless, these findings highlight the importance of assessing and addressing suicidal ideation in children with ASD and comorbid anxiety disorders/OCD, and more importantly in those with elevated externalizing behaviors and perceptions of loneliness.
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12. Liu G, Wang S, Liao J, Ou P, Huang L, Xie N, He Y, Lin J, He HG, Hu R. The efficacy of WeChat-based parenting training on the psychological well-being of mothers with autistic children during the COVID-19 pandemic : A quasi-experimental study. JMIR Ment Health ;2021 (Jan 19)
BACKGROUND : During the COVID-19 pandemic, special education schools for children in most areas of China were closed between the end of January and the beginning of June in 2020. The sudden interruptions of schooling and the pandemic itself caused parents to be anxious and to even panic. Mobile parenting skills education has been proved to be an effective method in improving the psychological well-being of mothers with autistic children. However, whether it can improve the psychological states of mothers in the context of the COVID-19 pandemic is an urgent subject to be investigated. OBJECTIVE : To evaluate the efficacy of WeChat-based parenting training (WBPT) on anxiety, depression, parenting stress, and hope for mothers with autistic children as well as the feasibility of the program during the COVID-19 pandemic. METHODS : This was a quasi-experimental trial. A total of 125 mothers with preschool autistic children were recruited in January 2020. The participants were assigned into the control group (n=60), receiving routine care, or the intervention group (n=65), receiving the 12-week WBPT plus routine care according to their preferences. Anxiety, depression, parenting stress, hope, satisfaction, and adherence to the intervention were measured at three timepoints : the baseline (T0), post-intervention (T1), and 20 weeks follow-up (T2). RESULTS : One hundred and nine mothers completed the T1 assessment and 104 mothers completed the T2 assessment. The results of the linear mixed model analysis showed statistically significant group*time interaction effects for the intervention on anxiety (F=14.219, P<.001), depression (F=26.563, P<.001), parenting stress (F=68.572, P<.001), and hope (F=197.608, P<.001). Of all mothers in the intervention group, 90.4% reported that they were extremely satisfied with the WBPT. In total, 40.0% kept the logging recordings for home training each week and 61.5% kept more than 80% for all 20 weeks. CONCLUSIONS : The WBPT is acceptable and appears to be an effective approach for reducing anxiety, depression, and parenting stress and increasing hope in mothers with autistic children during the global COVID-19 pandemic. Future studies with rigorous designs and longer follow-up periods are needed to further detect the effectiveness of the WBPT. CLINICALTRIAL : Chinese Clinical Trial Registry, ChiCTR2000031772 ; http://www.chictr.org.cn/showproj.aspx?proj=52165.
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13. Low HM, Wong TP, Lee LW, Makesavanh S, Vongsouangtham B, Phannalath V, Che Ahmad A, Lee ASS. Can pictorial narration offer a solution to teacher training on the effective inclusion of students with autism spectrum disorder in low-resource settings ? Investigation on knowledge and stigma change. Autism ;2021 (Jan 19):1362361320984899.
In this study, we explored whether pictorial narration could offer a solution to teacher training on effective inclusion of students with autism spectrum disorder in the Lao People’s Democratic Republic. For this purpose, pre- and post-training knowledge data were collected from 87 Laotian teachers who participated in teacher training using a pictorial narrative e-module called The Story of Khamdy(TM). The teachers’ knowledge test results and feedback were analyzed. The findings indicated that teachers’ acceptance toward the training method had positive effects on their knowledge changes and supported the use of a pictorial narration approach in imparting knowledge about inclusive education and autism spectrum disorder to teachers in a least developed country.
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14. MacDuffie KE, Estes AM, Peay HL, Pruett JR, Jr., Wilfond BS. The Ethics of Predicting Autism Spectrum Disorder in Infancy. J Am Acad Child Adolesc Psychiatry ;2021 (Jan 19)
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15. Muris P, Ollendick TH. Selective Mutism and Its Relations to Social Anxiety Disorder and Autism Spectrum Disorder. Clin Child Fam Psychol Rev ;2021 (Jan 19)
In current classification systems, selective mutism (SM) is included in the broad anxiety disorders category. Indeed, there is abundant evidence showing that anxiety, and social anxiety in particular, is a prominent feature of SM. In this article, we point out that autism spectrum problems in addition to anxiety problems are sometimes also implicated in SM. To build our case, we summarize evidence showing that SM, social anxiety disorder (SAD), and autism spectrum disorder (ASD) are allied clinical conditions and share communalities in the realm of social difficulties. Following this, we address the role of a prototypical class of ASD symptoms, restricted and repetitive behaviors and interests (RRBIs), which are hypothesized to play a special role in the preservation and exacerbation of social difficulties. We then substantiate our point that SM is sometimes more than an anxiety disorder by addressing its special link with ASD in more detail. Finally, we close by noting that the possible involvement of ASD in SM has a number of consequences for clinical practice with regard to its classification, assessment, and treatment of children with SM and highlight a number of directions for future research.
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16. Nadeem MS, Murtaza BN, Al-Ghamdi MA, Ali A, Zamzami MA, Khan JA, Ahmad A, Mujaddad Ur R, Kazmi I. Autism – A Comprehensive Array of Prominent Signs and Symptoms. Curr Pharm Des ;2021 (Jan 19)
BACKGROUND : Autism Spectrum Disorder (ASD) is a multifaceted neurodevelopmental condition characterized by multiple psychological and physiological impairments in young children. According to the recent reports 1 out of every 58 newly born children is suffering from autism. The aetiology of disorder is complex and poorly understood, hindering the adaptation of targeted and effective therapies. There are no well-established diagnostic biomarkers for autism, hence the analysis of symptoms by the pediatricians play a critical role in the early intervention. METHODS : In the present report we have emphasized on 24 behavioral, psychological and clinical symptoms of autism. RESULTS : Impaired social interaction, restrictive and narrow interests, anxiety, depression ; aggressive, repetitive, rigid and self-injurious behavior, lack of consistency, short attention span, fear, shyness and phobias, hypersensitivity and rapid mood alterations, high level of food and toy selectivity ; inability to establish friendships or follow the instructions ; fascination by round spinning objects and eating non-food materials are common psychological characteristics of autism. Speech or hearing impairments, poor cognitive function, gastrointestinal problems, weak immunity, disturbed sleep and circadian rhythms, weak motor neuromuscular interaction, lower level of serotonin and neurotransmitters, headache and body pain include common physiological symptoms. CONCLUSION : A variable qualitative and quantitative impact of these wide range of symptoms is perceived in each autistic individual making him/her distinct, incomparable and exceptional. Selection and application of highly personalized medical and psychological therapies are therefore recommended for the management and treatment of autism.
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17. Neave-DiToro D, Fuse A, Bergen M. Knowledge and Awareness of Ear Protection Devices for Sound Sensitivity by Individuals With Autism Spectrum Disorders. Lang Speech Hear Serv Sch ;2021 (Jan 19) ;52(1):409-425.
Purpose Sensitivity to sounds and atypical reactions to sensory input by individuals with autism spectrum disorder (ASD) have been reported in the literature. In response to this sensitivity, some individuals use ear protection devices (EPDs) such as noise-canceling headphones, earplugs, or earmuffs to attenuate the perceived unpleasant sounds. Given the communication deficits often noted in this population and the essential role of hearing in speech and language development, the impact of wearing EPDs to attenuate sound needs to be explored. The purpose of this study was to obtain information from various stakeholders regarding their opinions about use of EPDs in individuals with ASD and perceived benefits and possible concerns of EPD use. Method A survey was constructed to assess the opinions of speech-language pathologists, audiologists, teachers, and graduate students about EPDs among individuals with ASD. A total of 255 professionals and graduate students completed the survey. Results The vast majority of respondents indicated a level of awareness of EPDs within this population. Regarding observed use of such devices, the majority of participants (66%) reported observing individuals with ASD using EPDs. The most commonly used devices observed were headphones (91%), followed by earmuffs (44%) and earplugs (33%). Respondents who had experience recommending and/or using EPDs with individuals with ASD were asked to report on major reasons why the devices were used and the perceived benefits and possible negative effects. Conclusions There appears to be uncertainty among various stakeholders of the benefits and possible negative effects of EPD use by individuals with ASD. Additionally, there is a dearth of research in this area, and the necessity for specific guidelines for recommending and monitoring EPD use is indicated.
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18. Ostatníková D, Lakatošová S, Babková J, Hodosy J, Celec P. Testosterone and the brain : from cognition to autism. Physiol Res ;2021 (Jan 19) ;69(Suppl 3):S403-S419.
Sex and gender matter in all aspects of life. Humans exhibit sexual dimorphism in anatomy, physiology, but also pathology. Many of the differences are due to sex chromosomes and, thus, genetics, other due to endocrine factors such as sex hormones, some are of social origin. Over the past decades, huge number of scientific studies have revealed striking sex differences of the human brain with remarkable behavioral and cognitive consequences. Prenatal and postnatal testosterone influence brain structures and functions, respectively. Cognitive sex differences include especially certain spatial and language tasks, but they also affect many other aspects of the neurotypical brain. Sex differences of the brain are also relevant for the pathogenesis of neuropsychiatric disorders such as autism spectrum disorders, which are much more prevalent in the male population. Structural dimorphism in the human brain was well-described, but recent controversies now question its importance. On the other hand, solid evidence exists regarding gender differences in several brain functions. This review tries to summarize the current understanding of the complexity of the effects of testosterone on brain with special focus on their role in the known sex differences in healthy individuals and people in the autism spectrum.
19. Singh NN, Lancioni GE, Medvedev ON, Hwang YS, Myers RE. Real-Time Telehealth Treatment Team Consultation for Self-Injury by Individuals with Autism Spectrum Disorder. Adv Neurodev Disord ;2021 (Jan 19):1-13.
OBJECTIVES : Self-injurious behavior (SIB) refers to any repeated self-directed, non-suicidal, behavior that may cause or has the potential to cause physical harm to the person’s body. Behavioral interventions provide the standard evidence-based treatments for SIB by people with autism spectrum disorder (ASD) and intellectual disabilities (ID). Translating the proven effectiveness of behavioral interventions to treatment of self-injury in community settings by clinicians and caregivers has not been totally successful. The aim of the present study was to advance translational research by providing real-time telehealth consultation to a treatment team at a community-based mental health agency that provided inpatient and outpatient services to individuals with ASD and ID. METHOD : The participants of this single-case experimental study were three adolescents with ASD who had been referred for services because of their increasingly unmanageable SIB both at home and at school. The telehealth consultant provided real-time assistance to the treatment team within a translational model of care in the development and implementation of a behavior support plan and an informal mindfulness-based Soles of the Feet (SoF) program. RESULTS : Both visual and statistical analyses demonstrated reductions in the frequency of SIB for all three adolescents, with overall clinically significant reductions only with the SoF intervention. CONCLUSION : The results of this translational study suggest that telehealth consultation might be a viable technological alternative in situations which preclude face-to-face consultation. Telehealth consultation could be one method of supporting people with behavioral difficulties during pandemics, such as COVID-19.
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20. Tint A, Brown HK, Chen S, Lai MC, Tarasoff LA, Vigod SN, Parish S, Havercamp SM, Lunsky Y. Health characteristics of reproductive-aged autistic women in Ontario : A population-based, cross-sectional study. Autism ;2021 (Jan 19):1362361320982819.
While an increasing number of girls and women are being identified with autism, we know little about reproductive-aged autistic women’s health. This study used administrative data from Ontario, Canada, to compare the health of reproductive-aged autistic women with non-autistic women. Overall, reproductive-aged autistic women had poorer health compared with non-autistic women, including increased rates of material deprivation, chronic medical conditions, psychiatric conditions, history of assault, and use of potentially teratogenic medications (i.e. drugs that can be harmful to the development of an embryo or fetus). These findings suggest that there is a need for health interventions tailored to the needs of reproductive-aged autistic women.
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21. Wu HR, Li L, Ma YN, Liu CL, Pei P, Zheng XF, Wang ST, Xiao Y, Bu DF, Xu YF, Pan H, Qi Y. [The diagnostic value of chromosome microarray analysis technique in the genetic causes of children with intellectual disability or global developmental delay]. Zhonghua Yi Xue Za Zhi ;2021 (Jan 19) ;101(3):224-228.
Objective : To study the value of chromosome microarray analysis (CMA) application in children with developmental delay (DD), intellectual disability (ID), autistic spectrum disorder (ASD) and multiple congenital anomalies (MCA). Methods : Genomic DNA was extracted from peripheral blood samples. Array-based comparative genomic hybridization (array-CGH) analysis and single nucleotide polymorphism array (SNP-array) were performed in 1 320 children with DD/ID, ASD, with or without epilepsy and MCA who were admitted to Peking University First Hospital from 2014 to 2019. The results of genetic etiology test of CMA in children with mental retardation or global DD was summarized. Results : Of 1 320 samples, there were 10 cases of aneuploid abnormality, 6 cases of uniparental disomy and one case of mosaicism, respectively. Pathogenic copy number variations (CNVs) were found in 320 cases and pathogenic CNVs were detected in 23 cases, with a combined detection rate of 26% (343/1 320). CNVs of uncertain clinical significance occurred in 107 cases, accounting for 8.1% (107/1 320). There were 25 cases of possible benign CNVs, accounting for 2% (25/1 320), while benign CNVs were reported in 20 cases, accounting for 1.5% (20/1 320). The detection rate of MCA with DD/ID was 39.8% (130/327). Conclusions : CMA has the advantages of high resolution and covering the whole genome. It can detect the chromosomal abnormalities, microdeletions and duplications seen under the microscope, thus the genetic etiology of children with mental retardation or global DD can be diagnosed.
