Pubmed du 29/09/20

mardi 29 septembre 2020

1. Alsubaie LM, Alsuwat HS, Almandil NB, AlSulaiman A, AbdulAzeez S, Borgio JF. Risk Y-haplotypes and pathogenic variants of Arab-ancestry boys with autism by an exome-wide association study. Mol Biol Rep ;2020 (Sep 29)

Autism is heterogeneous multifactorial neurodevelopmental and neuropsychiatric disorder with repetitive and limited behaviors as well as communication deficits. Prevalence of autism in males is predominant than females, but their genetic association is unclear. The study was performed to investigate Y-chromosome haplotypes, significant risk variants and susceptibility genes associated with autistic Saudi young males with autism. Exome genotyping microarray analysis was performed in Saudi young boys with autism (cases, n = 47) and without autism and other genetic or neurodevelopmental disorders (control, n = 43) to identify the functional exonic risk variations among 243,345 exonic variations. The most significant single nucleotide polymorphisms (SNPs) of protein coding associated with autism in Saudi young boys were studied for functional enrichment. Y-chromosome haplotyping analysis of 6 SNPs such as rs1865680, rs2032624, rs2032658, rs2032631, rs9786153 and rs13447352 uncovered the most significant protective (ACGACA p = 2.94 × 10(-9)) among the controls and the high risk Y-haplotype (GAAGTC p = 6.85 × 10(-6)) among autistic boys. Exome association study revealed 6 susceptible genes, MCC, AUTS2, VSX1, SETBP1, CNTN3, and PCDH11Y that were known for autistic disorder. The significant predisposed genes with functional variants of Y-chromomere are strongly connected with spermatogenic failure (p = 8.02 × 10(-8)), azoospermia (p = 6.32 × 10(-7)), partial chromosome Y deletion (p = 7.66 × 10(-6)), HDMs demethylate histones pathway (p = 3.55 × 10(-4)) and immune system diseases (p = 4.11 × 10(-3)). Y-haplotypes and highly significant pathogenic exonic variants in MCC, AUTS2, VSX1, SETBP1, CNTN3 and PCDH11Y genes are more influential genetic factors for developing autism in boys of Arab origin.

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2. Arias VB, Aguayo V, Verdugo MA, Amor AM. Differences in the support needs of children with developmental disabilities among groups of medical and behavioral needs. PeerJ ;2020 ;8:e9557.

BACKGROUND/AIMS : Medical and behavioral needs are relevant in organizing and providing support strategies that improve the quality of life for children, along with their families. The present study aims to examine the impact of medical and behavioral needs on the need for support of children with disabilities. METHODS : Health and education professionals were interviewed using the Supports Intensity Scale-Children’s version to estimate the support needs of 911 children and adolescents (5-16 years) with an intellectual disability, including 55.32% with an additional disability. For data analysis, a model for measuring support needs was specified, consisting of seven support needs factors and three method factors. In estimating the model, four groups of medical and behavioral needs were considered. The factor scores’ means of the groups were compared through t-tests. RESULTS : Medical and behavioral needs had an impact on overall support needs. Differences were found in all support domains for medical needs. The greatest influence of behavioral needs was found in the Social and School participation areas but was indistinguishable between the mild and moderate levels of needs. CONCLUSIONS : Medical and behavioral needs greatly affect the need for support in a child’s daily life, so they need to be considered a priority for support services. The importance of standardized assessments is emphasized to help develop support strategies.

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3. Beck KB, Conner CM, White SW, Mazefsky CA. Mindfulness "Here and Now" : Strategies for Helping Adolescents With Autism. J Am Acad Child Adolesc Psychiatry ;2020 (Oct) ;59(10):1125-1127.

Mindfulness-based interventions (MBIs) are increasingly popular and have a growing empirical basis of support for improving physical and mental health, general functioning, and quality of life. MBIs are an especially attractive approach to improve emotion regulation (ER) in adolescents who have autism spectrum disorder (ASD), as they are thought to directly target ER and can be tailored to individual needs, symptoms, and cognitive capacity. Despite growing interest in MBIs for adolescents with ASD, there are few clinical delivery resources to support clinicians untrained in the use of mindfulness within therapy. This article uses an ASD-specific MBI as an exemplar to outline common challenges and solutions for clinicians using MBIs with adolescents with ER impairment. Mindfulness teaching practices described in this article have been trialed and refined over several years with >40 participants, across three different sites, and with 16 clinicians from four clinical professional backgrounds-most of whom had no prior experience with MBIs-in the Emotion Awareness and Skills Enhancement (EASE) program trials with adolescents with ASD. Although we describe the use of an MBI program with adolescents with ASD, the suggestions offered herein are relevant to use of MBIs with other clinical populations and include basic strategies for mental health professionals untrained in MBIs to enhance delivery to patients with ER impairment.

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4. Cardon A, Marshall T. To raise a child with autism spectrum disorder : A qualitative, comparative study of parental experiences in the United States and Senegal. Transcult Psychiatry ;2020 (Sep 28):1363461520953342.

Raising a child with Autism Spectrum Disorder (ASD) can often be a difficult and stressful process for families and caregivers. Though research on ASDs in Africa is burgeoning, very little is known about autism in francophone West Africa. Furthermore, no known ASD studies have explored parental experiences in particular from a cross-cultural perspective. This research used Interpretative Phenomenological Analysis to analyze in-depth, semi-structured interviews with seven Senegalese and seven American families to investigate parental experiences within the Senegalese community with further illustration by cross-cultural comparison. Comparative analysis of data across the two countries was undertaken to identify cultural variables previously unreported, especially those that may affect Senegalese family experience. Analysis of interviews revealed thematic differences in social and community support. Although access to effective treatment services was low among Senegalese families compared to the American families, traditional Senegalese household structures and community relations were hypothesized to serve as protective factors against the high social isolation and resulting logistical struggles reported in the U.S. sample. Further targeted research within the Senegalese environment is recommended, particularly to explore social stigma and its possible effects on families with autism, causal beliefs and treatment practices, and parental mental health and wellbeing.

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5. Chan MMY, Han YMY. Differential mirror neuron system (MNS) activation during action observation with and without social-emotional components in autism : a meta-analysis of neuroimaging studies. Mol Autism ;2020 (Sep 29) ;11(1):72.

BACKGROUND : Impaired imitation has been found to be an important factor contributing to social communication deficits in individuals with autism spectrum disorder (ASD). It has been hypothesized that the neural correlate of imitation, the mirror neuron system (MNS), is dysfunctional in ASD, resulting in imitation impairment as one of the key behavioral manifestations in ASD. Previous MNS studies produced inconsistent results, leaving the debate of whether "broken" mirror neurons in ASD are unresolved. METHODS : This meta-analysis aimed to explore the differences in MNS activation patterns between typically developing (TD) and ASD individuals when they observe biological motions with or without social-emotional components. Effect size signed differential mapping (ES-SDM) was adopted to synthesize the available fMRI data. RESULTS : ES-SDM analysis revealed hyperactivation in the right inferior frontal gyrus and left supplementary motor area in ASD during observation of biological motions. Subgroup analysis of experiments involving the observation of stimuli with or without emotional component revealed hyperactivation in the left inferior parietal lobule and left supplementary motor during action observation without emotional components, whereas hyperactivation of the right inferior frontal gyrus was found during action observation with emotional components in ASD. Subgroup analyses of age showed hyperactivation of the bilateral inferior frontal gyrus in ASD adolescents, while hyperactivation in the right inferior frontal gyrus was noted in ASD adults. Meta-regression within ASD individuals indicated that the right cerebellum crus I activation increased with age, while the left inferior temporal gyrus activation decreased with age. LIMITATIONS : This meta-analysis is limited in its generalization of the findings to individuals with ASD by the restricted age range, heterogeneous study sample, and the large within-group variation in MNS activation patterns during object observation. Furthermore, we only included action observation studies which might limit the generalization of our results to the imitation deficits in ASD. In addition, the relatively small sample size for individual studies might also potentially overestimate the effect sizes. CONCLUSION : The MNS is impaired in ASD. The abnormal activation patterns were found to be modulated by the nature of stimuli and age, which might explain the contradictory results from earlier studies on the "broken mirror neuron" debate.

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6. Edwards M, Xu M, Joseph S. A simple procedure for bacterial expression and purification of the fragile X protein family. Sci Rep ;2020 (Sep 28) ;10(1):15858.

The fragile X protein family consists of three RNA-binding proteins involved in translational regulation. Fragile X mental retardation protein (FMRP) is well-studied, as its loss leads to fragile X syndrome, a neurodevelopmental disorder which is the most prevalent form of inherited mental retardation and the primary monogenetic cause of autism. Fragile X related proteins 1 and 2 (FXR1P and FXR2P) are autosomal paralogs of FMRP that are involved in promoting muscle development and neural development, respectively. There is great interest in studying this family of proteins, yet researchers have faced much difficulty in expressing and purifying the full-length versions of these proteins in sufficient quantities. We have developed a simple, rapid, and inexpensive procedure that allows for the recombinant expression and purification of full-length human FMRP, FXR1P, and FXR2P from Escherichia coli in high yields, free of protein and nucleic acid contamination. In order to assess the proteins’ function after purification, we confirmed their binding to pseudoknot and G-quadruplex forming RNAs as well as their ability to regulate translation in vitro.

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7. Fu C, Armstrong D, Marsh E, Lieberman D, Motil K, Witt R, Standridge S, Nues P, Lane J, Dinkel T, Coenraads M, von Hehn J, Jones M, Hale K, Suter B, Glaze D, Neul J, Percy A, Benke T. Consensus guidelines on managing Rett syndrome across the lifespan. BMJ Paediatr Open ;2020 ;4(1):e000717.

BACKGROUND : Rett syndrome (RTT) is a severe neurodevelopmental disorder with complex medical comorbidities extending beyond the nervous system requiring the attention of health professionals. There is no peer-reviewed, consensus-based therapeutic guidance to care in RTT. The objective was to provide consensus on guidance of best practice for addressing these concerns. METHODS : Informed by the literature and using a modified Delphi approach, a consensus process was used to develop guidance for care in RTT by health professionals. RESULTS : Typical RTT presents early in childhood in a clinically recognisable fashion. Multisystem comorbidities evolve throughout the lifespan requiring coordination of care between primary care and often multiple subspecialty providers. To assist health professionals and families in seeking best practice, a checklist and detailed references for guidance were developed by consensus. CONCLUSIONS : The overall multisystem issues of RTT require primary care providers and other health professionals to manage complex medical comorbidities within the context of the whole individual and family. Given the median life expectancy well into the sixth decade, guidance is provided to health professionals to achieve current best possible outcomes for these special-needs individuals.

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8. Hua X, Zhu J, Yang T, Guo M, Li Q, Chen J, Li T. The Gut Microbiota and Associated Metabolites Are Altered in Sleep Disorder of Children With Autism Spectrum Disorders. Front Psychiatry ;2020 ;11:855.

BACKGROUND : Autism spectrum disorder (ASD) is a type of neurodevelopmental disease that is frequently accompanied by sleep disorder. Herein, we investigated changes in the gut microbiota and its metabolites correlated with core symptoms and sleep problems in children with ASD. METHODS : One hundred and twenty children diagnosed with ASD based on Diagnostic and Statistical Manual of Mental Disorders (DSM-5) criteria were enrolled in our study. The Autism Behavior Checklist (ABC), Social Responsiveness Scale (SRS), and Childhood Autism Rating Scale (CARS) were used to assess autism symptoms, and the Children Sleep Habits Questionnaire (CSHQ) was employed to evaluate sleep problems in children with ASD. The 120 children were divided into a sleep disorder group (n = 60) and a control group without sleep disorder (n = 60) according to the CSHQ answers. Illumina MiSeq analysis of 16S rRNA genes was used to compare differences in gut microbiota, and metabolomics analysis was employed to asses associated metabolites. RESULTS : SRS and CARS scores for the sleep disorder group were significantly higher than for the control group (p < 0.05). The abundances of butyrate-producing bacteria Faecalibacterium and Agathobacter were reduced significantly in the sleep disorder group (p < 0.05), and this was negatively correlated with CSHQ score (p = 0.007 and p = 0.014, respectively). The abundance of Agathobacter was also negatively associated with the ABC language score (p = 0.044). Furthermore, levels of 3-hydroxybutyric acid and melatonin were significantly lower (p < 0.05) while serotonin levels were higher (p < 0.05) in the sleep disorder group. The 3-hydroxybutyric acid level was positively associated with Faecalibacterium abundance (p = 0.000), and melatonin was positively associated with the abundance of Faecalibacterium (p = 0.036) and Agathobacter (p = 0.041). We also observed negative correlations between 3-hydroxybutyric acid and CSHQ (p = 0.000) and CARS (p = 0.009), between melatonin and CSHQ (p = 0.002) and ABC sensory score (p = 0.021), and a positive correlation between serotonin and CSHQ (p = 0.002) and ABC sensory score (p = 0.025). CONCLUSIONS : ASD children with sleep disorder exhibited declines in the abundance of Faecalibacterium and Agathobacter, decreased levels of 3-hydroxybutyric acid and melatonin, and an increase in serotonin. These changes may aggravate sleep problems and core symptoms in children with ASD.

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9. Kung KTF. Autistic traits, systemising, empathising, and theory of mind in transgender and non-binary adults. Mol Autism ;2020 (Sep 29) ;11(1):73.

BACKGROUND : Prior research examining autistic traits in gender minority adults has reported mixed findings. Most prior studies did not include non-binary individuals. Little is known about the mechanisms shaping autistic traits in gender minority adults. This study examined autistic traits, as well as constructs related to the extreme male brain theory of autism and the mindblindness theory, in transgender and non-binary adults. METHODS : An online survey was conducted to assess autism-related traits in 323 gender minority adults, including 74 transgender men (individuals assigned female at birth and identify as a man), 95 transgender women (individuals assigned male at birth and identify as a woman), 104 non-binary AFAB (individuals assigned female at birth and identify as non-binary), and 50 non-binary AMAB (individuals assigned male at birth and identify as non-binary). Autistic traits, systemising, empathising, and Theory of Mind (ToM) were measured using the Autism Spectrum Quotient (AQ), the short forms of the Systemising Quotient (SQ-Short) and the Empathy Quotient (EQ-Short), the 10-item version of the Empathy Quotient (EQ-10) and the Reading the Mind in the Eyes Test (Eyes Test). Participants’ scores on these measures were compared with previously published scores based on large-scale general population samples including thousands of participants. RESULTS : On average, compared with control females in the general population samples, both transgender men and non-binary AFAB scored significantly higher on the AQ and the SQ-Short but scored significantly lower on the EQ-Short, the EQ-10, and the Eyes Test. No clear or consistent group differences emerged when transgender women and non-binary AMAB were compared with control males. LIMITATIONS : The present study does not have a large sample of gender minority adults. It has been argued that the measures employed may not provide a precise assessment of the psychological constructs of interest. The present study has a "non-clinical" sample. However, not all gender minorities have access to or require clinical services, and so a "non-clinical" sample may be more representative of the gender minority community as a whole than samples recruited through clinics. CONCLUSIONS : The current findings suggest a "masculinised" autism-related profile and reduced ToM in transgender men and in non-binary AFAB. These findings might be interpreted to support the extreme male brain theory of autism and the mindblindness theory. Further research is needed to corroborate these findings.

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10. Li J, Xu J, Luo J. [Advances on GABAergic interneurons in autism spectrum disorders]. Zhejiang Da Xue Xue Bao Yi Xue Ban ;2020 (Aug 25) ;49(4):508-513.

More and more evidences support that the abnormality of GABAergic interneurons is associated with autism spectrum disorders (ASD), epilepsy, schizophrenia and other neurodevelopmental disorders. In recent years, numerous drugs have been developed to regulate ion channels and receptors in GABAergic interneurons, including sodium channels and N-methyl-D-aspartate (NMDA) receptors. The activators of Na(+) channel can enhance the action potential of GABAergic interneurons by reducing the inactivation of Na(+) channel. NMDA receptor, as a potential therapeutic target of ASD, can restore the NMDA function of GABAergic interneurons, which would be used to treat behavioral defects. In addition, there are many ion channels and receptors on GABAergic interneurons related to ASD. This article reviews GABAergic interneurons in the pathogenesis of ASD and the related interventions.

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11. Margari L, Marzulli L, Gabellone A, de Giambattista C. Eating and Mealtime Behaviors in Patients with Autism Spectrum Disorder : Current Perspectives. Neuropsychiatr Dis Treat ;2020 ;16:2083-2102.

Autism spectrum disorder (ASD) is a neurodevelopmental disorder characterized by impaired social and communication skills and repetitive and restrictive behaviors. Children and adolescents with ASD are more likely to present feeding problems than their typically developing peers are. The present narrative review of literature aims to highlight the most recent evidence about epidemiology and presentations of eating and mealtime behavioral abnormalities in ASD from infancy to adolescence. Abnormalities in breastfeeding and acceptance of complementary foods have been described by most of the studies evaluating ASD early feeding history. Among the various eating and mealtime behaviors identified in ASD children and adolescents, the most common was food selectivity. The present review also provides brief overviews of the various aspects of food that may influence food acceptance by ASD patients and of the correlation between eating problems and ASD core symptoms, as well as with cognitive level, language skills, and family environment. However, studies evaluating eating problems in ASD children and adolescents are very heterogeneous and they show methodological differences. Moreover, the absence of unique definitions of eating and mealtime behaviors in ASD further limits the comparability of studies.

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12. Miller LE, Dai YG, Fein DA, Robins DL. Characteristics of toddlers with early versus later diagnosis of autism spectrum disorder. Autism ;2020 (Sep 26):1362361320959507.

The emergence of autism symptoms in childhood is variable, with some children showing signs of autism spectrum disorder very early, and others not being identified until much later. Although most children in the United States are not diagnosed with autism spectrum disorder until preschool, at ages 3-4 years, symptoms can be reliably detected at 14 months. It is less certain how those toddlers diagnosed with autism spectrum disorder earlier versus later differ from each other clinically. This study revealed that young children diagnosed later in development, between ages 25 and 41 months, are more impaired on measures of cognitive, adaptive, and social functioning than their counterparts who are diagnosed with autism spectrum disorder earlier. All young children with autism spectrum disorder are impaired in communication to a similar degree, however. Universal autism screening at 18 months may identify toddlers with autism spectrum disorder when their symptoms are milder and more readily amenable to intervention. Repeated screening at 24 months is supported to detect those children missed by an earlier screening, who may be more severely affected. Caregivers should be encouraged to pursue diagnostic evaluation at an initial positive screening result to ensure timely diagnosis and treatment.

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13. Odom SL, Hall LJ, Suhrheinrich J. Implementation Science, Behavior Analysis, and Supporting Evidence-based Practices for Individuals with Autism. Eur J Behav Anal ;2020 ;21(1):55-73.

Although applied behavior analysis researchers have created efficacious treatment and intervention practices for children and youth with autism spectrum disorder (ASD), there is a gap between research and practice. Implementation Science (IS) and Organizational Behavior Management (OBM), based with Applied Behavior Analysis, are two parallel fields that could close this gap. This paper provides descriptions of both IS and OBM, highlighting their commonalities and unique featuers. The paper concludes with examples of how researchers have used IS and OBM to promote practitioners’ use of evidence-based practices and services for children and youth with ASD.

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14. Oshima F, William M, Takahashi N, Tsuchiyagaito A, Kuwabara H, Shiina A, Seto M, Hongo M, Iwama Y, Hirano Y, Sutoh C, Taguchi K, Yoshida T, Kawasaki Y, Ozawa Y, Masuya J, Sato N, Nakamura S, Kuno M, Takahashi J, Ohtani T, Matsuzawa D, Inada N, Kuroda M, Ando M, Hori A, Nakagawa A, Shimizu E. Cognitive-behavioral family therapy as psychoeducation for adolescents with high-functioning autism spectrum disorders : Aware and Care for my Autistic Traits (ACAT) program study protocol for a pragmatic multisite randomized controlled trial. Trials ;2020 (Sep 29) ;21(1):814.

BACKGROUND : One aim of an autism spectrum disorder (ASD) diagnosis is to obtain special support for the disorder, though this does not guarantee practical support. We developed a psychoeducational program using cognitive-behavioral therapy (CBT) and Aware and Care for my Autistic Traits (ACAT) for Japanese adolescents with high-functioning ASD and their parents. METHODS : This multisite study is a randomized controlled trial. In total, 24 participants will be assigned to the ACAT group and 24 to the treatment-as-usual (TAU) group. The ACAT group will receive a weekly 100-min session for 6 weeks, regular medical care, and one follow-up session. In this ongoing clinical trial, we will compare the scores of the measures recorded in the pre- and post-intervention stages between the ACAT and TAU groups. A total of 41 patients out of a target of 48 have participated in the trial to date. The primary outcome measure is the Autism Knowledge Questionnaire. Secondary outcome measures include Barriers to Access to Care Evaluation 3rd Edition, the Strengths and Difficulties Questionnaire, the Vineland Adaptive Behavior Scales second edition, the Parenting Resilience Elements Questionnaire, the General Health Questionnaire 12, and the Depression Self-Rating Scale for Children assessments, as well as an electroencephalographic recording. DISCUSSION : It is expected that participants in the ACAT group will significantly increase their self-understanding and awareness of ASD symptoms compared to those in the TAU group. Additionally, the ACAT group is expected to exhibit improved social adaptation and mental health if children and parents are able to better understand the ASD characteristics through sessions. This intervention will contribute to the establishment of an effective evidence-based treatment strategy for adolescents with ASD. TRIAL REGISTRATION : UMIN Register 000029851 . Registered on January 06, 2018.

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15. Razjouyan K, Miri MA, Zarei MA, Farhangdoost H, Tavakoli S. Study of the effectiveness of comprehensive, timely, and family-oriented interventions in reducing the symptoms of autism in children. J Family Med Prim Care ;2020 (Jun) ;9(6):2945-2949.

BACKGROUND AND OBJECTIVES : The onset of rehabilitation interventions in children with autism spectrum disorder below 5 years old has been associated with the reduction of autism symptoms in all developmental domains. The present study aimed to illustrate the importance of early family-oriented interventions in the reduction of the problems and symptoms of children with autism spectrum disorder. METHODOLOGY : This study was a pretest-posttest clinical trial without a control group. Fifty patients were selected using a convenience sampling method, of which forty patients were male and 10 females with a mean age of 3.2 ± 1.4. The efficacy assessment was evaluated using the Autism Behavior Checklist (ABC) and the Autism Treatment Evaluation Checklist (ATEC) as pretest and posttest. Data were analyzed by independent T-test using SPSS software. RESULTS : The difference between pretest and posttest was significant in all aspects of the ATEC test (communication, health, sensory and cognitive awareness, socialization) at the level of P < 0.001. Moreover, the difference between pretest and posttest was significant at P < 0.001 for the aspects of speech, social and communication, and general performance, and at P < 0.002 for the sensory processing. CONCLUSION : Timely interventions under 6 years old with an emphasis on family-oriented and growth aspects over one year can help autistic children in the aspects of speech, social and communication, sensory processing, and sensory and cognitive awareness.

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16. Valagussa G, Balatti V, Trentin L, Piscitelli D, Yamagata M, Grossi E. Relationship between tip-toe behavior and soleus - gastrocnemius muscle lengths in individuals with autism spectrum disorders. J Orthop ;2020 (Sep-Oct) ;21:444-448.

BACKGROUND : About 20% of individuals with autism spectrum disorders (ASD) showed tip-toe behavior (TTB). This behavior may be related to a decreased ankle joint range of motion (ROM) in dorsiflexion. Physiologically, gastrocnemius (GM) and soleus (SM) muscles influence ankle ROM independently. However, no studies investigated the relationship between the amount of time individuals with ASD spend in TTB and GM and SM muscle lengths. OBJECTIVE : To evaluate the relationship between three mutually exclusive clinical patterns of TTB i.e., during standing, walking and running (TTB Class 1), or during walking and running (TTB Class 2), or only when running (TTB Class 3), and GM and SM muscle lengths. METHODS : Sixty-nine individuals with ASD (average age : 14.1 ± 3.6 years, 56 males) were enrolled. In a clinical setting, SM and GM muscle lengths of both legs were assessed through a manual goniometer. Measurements were performed by two trained assessors blinded to TTB classifications. RESULTS : Individuals with ASD classified as TTB Class 1 demonstrated a shortening of both GM and SM compared with NO-TTB and TTB Class 3 individuals. CONCLUSIONS : Our results support the relationship between TTB severity and GM and SM shortening assessed by a decreased ankle joint ROM in dorsiflexion. Further studies are needed to determine the factors associated with TTB and decreased ankle ROM.

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17. Wang X, Gao C, Zhang Y, Xu J, Fang Q, Gou L, Yang Z, Mei D, Liu L, Li L, Liu J, Zhang H, Song Y. Neuronal Nitric Oxide Synthase Knockdown Within Basolateral Amygdala Induces Autistic-Related Phenotypes and Decreases Excitatory Synaptic Transmission in Mice. Front Neurosci ;2020 ;14:886.

Autism spectrum disorder (ASD) is a heterogeneous group of neurodevelopmental disorders characterized by deficits in communication, impaired social interaction, and repetitive or restricted interests and behaviors. We have recently shown that neuronal nitric oxide synthase (nNOS) expression was reduced in the basolateral amygdala of mice after postnatal valproic acid exposure. However, the specific role of nNOS downregulation in mice remains to be elucidated. Herein, we investigated the behavioral alternations of naive mice with a recombinant adeno-associated virus (rAAV)-mediated knockdown of nNOS in a comprehensive test battery, including the social interaction, marble burying, self-grooming, and open field tests. Further, the electrophysiological and surface expression changes induced by nNOS deficiency of the basolateral amygdala in these animals were examined. Our results show that nNOS knockdown displayed typical symptoms of ASD-like behaviors, such as reduced social interaction and communication, elevated stereotypes, and anxiety in mice. Surprisingly, we found that nNOS knockdown exhibited greatly reduced excitatory synaptic transmission concomitant with the lower surface expression of GluN2B-containing N-methyl-D-aspartate receptors and postsynaptic density protein 95 in mice. These findings support a notion that dysregulation of nNOS might contribute to ASD-associated phenotypes, with disease pathogenesis most likely resulting from deficits in excitatory synaptic transmission.

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18. Westmark CJ, Kiso M, Halfmann P, Westmark PR, Kawaoka Y. Repurposing Fragile X Drugs to Inhibit SARS-CoV-2 Viral Reproduction. Front Cell Dev Biol ;2020 ;8:856.

The COVID-19 pandemic is a global health crisis that requires the application of interdisciplinary research to address numerous knowledge gaps including molecular strategies to prevent viral reproduction in affected individuals. In response to the Frontiers Research Topic, "Coronavirus disease (COVID-19) : Pathophysiology, Epidemiology, Clinical Management, and Public Health Response," this Hypothesis article proposes a novel therapeutic strategy to repurpose metabotropic glutamate 5 receptor (mGluR(5)) inhibitors to interfere with viral hijacking of the host protein synthesis machinery. We review pertinent background on SARS-CoV-2, fragile X syndrome (FXS) and metabotropic glutamate receptor 5 (mGluR(5)) and provide a mechanistic-based hypothesis and preliminary data to support testing mGluR(5) inhibitors in COVID-19 research.

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19. Zhang X, Lin JS, Spruyt K. Sleep problems in Rett syndrome animal models : A systematic review. J Neurosci Res ;2020 (Sep 28)

Due to the discovery of Rett Syndrome (RTT) genetic mutations, animal models have been developed. Sleep research in RTT animal models may unravel novel neural mechanisms for this severe neurodevelopmental heritable rare disease. In this systematic literature review we summarize the findings on sleep research of 13 studies in animal models of RTT. We found disturbed efficacy and continuity of sleep in all genetically mutated models of mice, cynomolgus monkeys, and Drosophila. Models presented highly fragmented sleep with distinct differences in 24-hr sleep/wake cyclicity and circadian arrhythmicity. Overall, animal models mimic sleep complaints reported in individuals with RTT. However, contrary to human studies, in mutant mice, attenuated sleep delta waves, and sleep apneas in non-rapid eye movement sleep were reported. Future studies may focus on sleep structure and EEG alterations, potential central mechanisms involved in sleep fragmentation and the occurrence of sleep apnea across different sleep stages. Given that locomotor dysfunction is characteristic of individuals with RTT, studies may consider to integrate its potential impact on the behavioral analysis of sleep.

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20. Zhao S, Chen WJ, Dhar SU, Eble TN, Kwok OM, Chen LS. Pursuing genetic testing for children with autism spectrum disorders : What do parents think ?. J Genet Couns ;2020 (Sep 28)

The American Academy of Pediatrics, the American College of Medical Genetics and Genomics, and the American Academy of Neurology recommend genetic testing, as a genetic evaluation tool, for children diagnosed with autism spectrum disorders (ASD). Despite the potential benefits, the utilization of genetic testing is low. We proposed an integrated theoretical framework to examine parents’ intention and associated psychosocial factors in pursuing genetic testing for their children with ASD. Recruiting primarily from the Interactive Autism Network, a nationwide sample of 411 parents of children with ASD who had never pursued genetic testing for their children completed our theory-based online survey. Data were analyzed using structural equation modeling. About half of the parents were willing to pursue genetic testing for their children with ASD. Findings of the structural equation modeling suggested a good model fit between our integrated theoretical framework and survey data. Parents’ intention was significantly and positively associated with their attitudes toward genetic testing, subjective norm, and self-efficacy in having their children tested. This study serves as an initial window to understand parental intention to pursue genetic testing for their children with ASD. Our findings can help physicians and genetic counselors understand, educate, counsel, and support parents’ decision-making about having their children with ASD genetically tested. Furthermore, our study can also assist physicians and genetic counselors in developing theory- and evidence-based patient education materials to enhance genetic testing knowledge among parents of children with ASD.

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