1. Alshatrat SM, Al-Bakri IA, Al-Omari WM. {{Dental Service Utilization and Barriers to Dental Care for Individuals with Autism Spectrum Disorder in Jordan: A Case-Control Study}}. {Int J Dent};2020;2020:3035463.
Individuals with disabilities are at higher risk for oral diseases such as caries and periodontal disease. Therefore, regular dental care is essential to maintain oral health. However, individuals with disabilities encounter difficulties in accessing dental care. The challenges and barriers to oral care faced by individuals with autism spectrum disorder (ASD) have not been addressed in Jordan. The aim of this study was to examine the use of dental services in individuals with ASD in Jordan and identify barriers that affect their access to dental care in comparison with individuals without ASD. A case-control study was carried out among 296 parents/caregivers of individuals with ASD and individuals without ASD, which involved completion of a self-designed questionnaire. The majority of the participants in both groups had visited the dentist in the year preceding completion of the questionnaire. The main reason for visiting dental services was toothache (43%), and the least common reason was routine checkup (11.6%), with a significant difference (P < 0.05) observed between the two groups. Barriers including embarrassment (43.5%), a lack of specialized dental staff (28.6%), a lack of knowledge of how to treat people with disabilities (26.6%), and inadequate facilities (34%) were significantly (P < 0.05) more likely to be reported by individuals with ASD than the controls. In conclusion, knowing and understanding the barriers to accessing dental care could improve overall health for individuals with ASD. Furthermore, recognizing the challenges in accessing dental care for this population could help oral health professionals to minimize these difficulties. Lien vers le texte intégral (Open Access ou abonnement)
2. Amiri M, Lamballais S, Geenjaar E, Blanken LME, El Marroun H, Tiemeier H, White T. {{Environment-Wide Association Study (E(n) WAS) of Prenatal and Perinatal Factors Associated With Autistic Traits: A Population-Based Study}}. {Autism Res};2020 (Aug 23)
A combination of genetic and environmental factors contributes to the origins of autism spectrum disorder (ASD). While a number of studies have described specific environmental factors associating with emerging ASD, studies that compare and contrast multiple environmental factors in the same study are lacking. Thus, the goal of this study was to perform a prospective, data-driven environmental-wide association study of pre- and perinatal factors associated with the later development of autistic symptoms in childhood. The participants included 3891 6-year-old children from a birth cohort with pre- and perinatal data. Autistic symptoms were measured using the Social Responsiveness Scale in all children. Prior to any analyses, the sample was randomly split into a discovery set (2920) and a test set (921). Multiple linear regression analyses were performed for each of 920 variables, correcting for six of the most common covariates in epidemiological studies. We found 111 different pre- and perinatal factors associated with autistic traits during childhood. In secondary analyses where we controlled for parental psychopathology, 23 variables in the domains of family and interpersonal relationships were associated with the development of autistic symptoms during childhood. In conclusion, a data-driven approach was used to identify a number of pre- and perinatal risk factors associating with higher childhood autistic symptoms. These factors include measures of parental psychopathology and family and interpersonal relationships. These measures could potentially be used for the early identification of those at increased risk to develop ASD. LAY SUMMARY: A combination of genetic and environmental factors contributes to the development of autism spectrum disorder (ASD). Each environmental factor may affect the risk of ASD. In a study on 6-year-old children, a number of pre- and perinatal risk factors were identified that are associated with autistic symptoms in childhood. These factors include measures of parental psychopathology and family and interpersonal relationships. These variables could potentially serve as markers to identify those at increased risk to develop ASD or autistic symptoms.
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3. Bear A, Drew C, Zuckerman KE, Phelps RA. {{Understanding Barriers to Access and Utilization of Developmental Disability Services Facilitating Transition}}. {J Dev Behav Pediatr};2020 (Aug 21)
OBJECTIVE: To explore the barriers faced by parents of individuals with intellectual and developmental disabilities when obtaining and using Developmental Disability Services (DDS) to support adolescent transition. METHODS: The authors conducted a basic interpretive qualitative study using semistructured interviews. Interviews were manually coded by the team of university-based researchers using constant comparative analysis. The codes were grouped into themes. Thematic saturation occurred after 18 interviews with parents (n = 10) and service coordinators for DDS (n = 8). RESULTS: Barriers to DDS enrollment included emotional and administrative burden, fear of invasion of privacy, lack of a qualifying diagnosis, difficulties in accessing information about services, and misinformation about services. Barriers to DDS use once enrolled were difficulty in finding/hiring direct support professionals, high turnover of direct support professionals, and lack of training and skill among direct support professionals. Participants also noted high turnover among service coordinators, further administrative burden from hiring direct support professionals, and required home visits by service coordinators as additional barriers to service use. Participants reported benefits of DDS including increased inclusion for clients in the community, the use of person-centered skill building, and access to respite care and system navigation support. CONCLUSION: Although all participants reported benefits of acquiring services, there are significant barriers to acquiring and maintaining these services. Recommendations based on these barriers are provided for DDS, federal policy makers, and local support professionals along with a toolkit of potential strategies to support families.
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4. Cameron MJ, Moore T, Bogran C, Leidt A. {{Telehealth for Family Guidance: Acceptance and Commitment Therapy, Parent-Focused Preference Assessment, and Activity-Based Instruction for the Support of Children with Autism Spectrum Disorder and Their Families}}. {Behav Anal Pract};2020 (Jun 23):1-7.
A 5-stage protocol was used to support Board Certified Behavior Analysts providing telehealth support for children with autism spectrum disorder and their families. Stage 1 of the protocol involves 2 acceptance and commitment therapy exercises. Specifically, the Valued Living Questionnaire is used to identify a family member’s values, and the Bull’s-Eye Values Survey is employed to determine the extent to which a family member is living in accordance with stated values. Stage 2 of the protocol involves administering an adult version of the Meaningful Activity Participation Assessment to identify preferred activities of parents of a child with autism spectrum disorder. During Stage 3 of the protocol, the goals and objectives of a child with autism spectrum disorder are yoked to the preferred activities of a family member in order to promote child-parent engagement. Stage 4 of the protocol is focused on parent-implemented interventions, and Stage 5 of the protocol is designed as a primer for comprehensive support within an acceptance and commitment therapy model. The 5-stage protocol provides guidelines for Board Certified Behavior Analysts interested in structuring telehealth sessions and optimizing engagement between a family member and a child with autism spectrum disorder.
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5. Degli Espinosa F, Metko A, Raimondi M, Impenna M, Scognamiglio E. {{A Model of Support for Families of Children With Autism Living in the COVID-19 Lockdown: Lessons From Italy}}. {Behav Anal Pract};2020 (Jun 2):1-9.
Italy has been the European country most affected by the COVID-19 pandemic to date and has been in social lockdown for the longest period of time compared to other countries outside China. Almost overnight, Italian behavior analysts were faced with the challenge of setting up remotely whole-family systems aimed at maintaining adaptive skills and low levels of challenging behavior to be carried out solely by caregivers. Given these extraordinary circumstances, the protocols available from the applied behavior-analytic, parent training, and autism literature did not appear to fully meet the needs of parents having to be with their children under extreme levels of stress in a confined space with limited reinforcers for 24 hr a day, 7 days a week. To meet this unprecedented challenge, we developed a dynamic and holistic protocol that extended to the full day and that recognized the need for sustainable intervention delivered solely by parents, who were often looking after more than one child. These practices are presented in this article, together with a discussion of lessons we have learned thus far, which may be useful for behavior analysts working in other regions in which the effects of the pandemic are not yet fully realized. Although somewhat unorthodox, we include some parent comments at the end with the goal of sharing the parent perspective in real time as this pandemic unfolds across the world.
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6. Dickter CL, Burk JA, Anthony LG, Robertson HA, Verbalis A, Seese S, Myrick Y, Anthony BJ. {{Assessment of Sesame Street online autism resources: Impacts on parental implicit and explicit attitudes toward children with autism}}. {Autism};2020 (Aug 25):1362361320949346.
The current study sought to characterize implicit bias toward children with autism and examine whether viewing educational materials about autism would change attitudes toward children with autism. A website developed by Sesame Street containing information about autism and resources for families was distributed to parents of children with autism (n = 473) and parents of children without autism (n = 707). Pre- and post-test measures of implicit bias toward children with autism; explicit attitudes and knowledge about autism; and parenting confidence, strain, and stigma were completed before and after the website was presented. Results indicated that parents of children with autism showed less implicit bias compared with those of non-autistic children during the pre-test, but the groups did not differ at the post-test. Parents without autistic children and those with more negative explicit attitudes showed a greater reduction in implicit bias from the pre- to the post-test. In addition, for parents of children with autism, a more positive change in explicit attitudes and increased knowledge from the pre- to the post-test was associated with more empowerment at the post-test. Together, our findings suggest that the online educational resources can reduce implicit bias against children with autism and help mitigate some of the psychological issues associated with parenting children with autism.
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7. Dirks B, Romero C, Voorhies W, Kupis L, Nomi JS, Dajani DR, Odriozola P, Burrows CA, Beaumont AL, Cardona SM, Parlade MV, Alessandri M, Britton JC, Uddin LQ. {{Neural Responses to a Putative Set-shifting Task in Children with Autism Spectrum Disorder}}. {Autism Res};2020 (Aug 25)
While much progress has been made toward understanding the neurobiology of social and communication deficits associated with autism spectrum disorder (ASD), less is known regarding the neurobiological basis of restricted and repetitive behaviors (RRBs) central to the ASD diagnosis. Symptom severity for RRBs in ASD is associated with cognitive inflexibility. Thus, understanding the neural mechanisms underlying cognitive inflexibility in ASD is critical for tailoring therapies to treat this understudied yet pervasive symptom. Here we used a set-shifting paradigm adopted from the developmental cognitive neuroscience literature involving flexible switching between stimulus categories to examine task performance and neural responses in children with ASD. Behaviorally, we found little evidence for group differences in performance on the set-shifting task. Compared with typically developing children, children with ASD exhibited greater activation of the parahippocampal gyrus during performance on trials requiring switching. These findings suggest that children with ASD may need to recruit memory-based neural systems to a greater degree when learning to flexibly associate stimuli with responses. LAY SUMMARY: Children with autism often struggle to behave in a flexible way when faced with unexpected challenges. We examined brain responses during a task thought to involve flexible thinking and found that compared with typically developing children, those with autism relied more on brain areas involved in learning and memory to complete the task. This study helps us to understand what types of cognitive tasks are best suited for exploring the neural basis of cognitive flexibility in children with autism.
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8. Doherty AJ, Atherton H, Boland P, Hastings R, Hives L, Hood K, James-Jenkinson L, Leavey R, Randell E, Reed J, Taggart L, Wilson N, Chauhan U. {{Barriers and facilitators to primary health care for people with intellectual disabilities and/or autism: an integrative review}}. {BJGP Open};2020 (Aug);4(3)
BACKGROUND: Globally, people with intellectual disabilities and/or autism experience health inequalities. Death occurs at a younger age and the prevalence of long-term morbidities is higher than in the general population. Despite this, their primary healthcare access rates are lower than the general population, their health needs are often unmet, and their views and experiences are frequently overlooked in research, policy, and practice. AIM: To investigate the barriers and facilitators reported by individuals with intellectual disabilities, autism, or both, and/or their carers, to accessing and utilising primary health care for their physical and mental health needs. DESIGN & SETTING: An integrative review was undertaken, which used systematic review methodology. METHOD: Electronic databases MEDLINE, Embase, CINAHL (Cumulative Index to Nursing and Allied Health Literature), and Cochrane were searched for relevant studies (all languages) using a search strategy. Two researchers independently screened the results and assessed the quality of the studies. RESULTS: Sixty-three international studies were identified. Six main themes relating to barriers and facilitators emerged from an analysis of these studies. The main themes were: training; knowledge and awareness; communication; fear and embarrassment; involvement in healthcare decision-making; and time. All the themes were underpinned by the need for greater care, dignity, respect, collaborative relationships, and reasonable adjustments. Opposing barriers and facilitators were identified within each of the main themes. CONCLUSION: Adolescents and adults with intellectual disabilities and/or autism experience several barriers to accessing and utilising primary health care. The findings highlight the reasonable adjustments and facilitators that can be implemented to ensure that these individuals are not excluded from primary health care.
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9. Feldman MA, Aunos M. {{Recent Trends and Future Directions in Research Regarding Parents with Intellectual and Developmental Disabilities}}. {Curr Dev Disord Rep};2020 (Jun 30):1-9.
PURPOSE OF REVIEW: This report updates research on parents with IDD and their children published since 2014. RECENT FINDINGS: Since 2014, a plethora of studies using large administrative databases in different countries support a contextual approach to understand why parents with IDD and their children may have worse outcomes than other families. In most studies, increased risk of ill health in women with IDD and health and developmental problems in their children were fully or partially accounted for by socioeconomic and psychosocial hardships. New research has found that pregnant women with IDD tend to have risk factors for pregnancy, birth, and postpartum complications that may contribute to adverse child outcomes. Intervention research is gradually becoming more contextualized. SUMMARY: More studies are needed on multicultural aspects of parenting, programs that could help parents with IDD overcome social and health disadvantages, comprehensive and coordinated service models that start during pregnancy, innovative parent support arrangements, parenting education for teens and young adults with IDD, use of technology, and dissemination and implementation of evidence-based programs.
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10. Finnegan EG, Asaro-Saddler K, Zajic MC. {{Production and comprehension of pronouns in individuals with autism: A meta-analysis and systematic review}}. {Autism};2020 (Aug 25):1362361320949103.
This research compared pronoun use in individuals with autism and typically developing peers. Meta-analysis and systematic review of 20 selected articles were used to determine whether significant differences existed in the use of pronouns overall as well as in personal, ambiguous, possessive, reflexive, and clitic pronoun usage. Summary effects indicated significant differences between individuals with autism and their typically developing peers in the use of pronouns overall as well as in ambiguous, clitic, and reflexive pronoun usage, but not in personal and possessive pronoun usage. Results indicate wide variation in the way individuals with autism use pronouns. Since individual outcomes appear to be moderated by multiple factors, including cognitive ability, first language, and overall language development, it is recommended these be considered in assessment and treatment.
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11. Huang ZA, Zhang J, Zhu Z, Wu EQ, Tan KC. {{Identification of Autistic Risk Candidate Genes and Toxic Chemicals via Multilabel Learning}}. {IEEE Trans Neural Netw Learn Syst};2020 (Aug 25);Pp
As a group of complex neurodevelopmental disorders, autism spectrum disorder (ASD) has been reported to have a high overall prevalence, showing an unprecedented spurt since 2000. Due to the unclear pathomechanism of ASD, it is challenging to diagnose individuals with ASD merely based on clinical observations. Without additional support of biochemical markers, the difficulty of diagnosis could impact therapeutic decisions and, therefore, lead to delayed treatments. Recently, accumulating evidence have shown that both genetic abnormalities and chemical toxicants play important roles in the onset of ASD. In this work, a new multilabel classification (MLC) model is proposed to identify the autistic risk genes and toxic chemicals on a large-scale data set. We first construct the feature matrices and partially labeled networks for autistic risk genes and toxic chemicals from multiple heterogeneous biological databases. Based on both global and local measure metrics, the simulation experiments demonstrate that the proposed model achieves superior classification performance in comparison with the other state-of-the-art MLC methods. Through manual validation with existing studies, 60% and 50% out of the top-20 predicted risk genes are confirmed to have associations with ASD and autistic disorder, respectively. To the best of our knowledge, this is the first computational tool to identify ASD-related risk genes and toxic chemicals, which could lead to better therapeutic decisions of ASD.
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12. Jordan AL, Marczak M, Knibbs J. {{‘I Felt Like I was Floating in Space’: Autistic Adults’ Experiences of Low Mood and Depression}}. {J Autism Dev Disord};2020 (Aug 24)
It is recognised that a high proportion of adults on the autism spectrum experience depressive symptoms. However, limited research has explored autistic peoples’ experiences of low mood and depression. The aim of this study was to explore the lived experiences of low mood and depression for adults on the autism spectrum. The study employed Interpretive Phenomenological Analysis to investigate the experiences of 8 adults (7 males and 1 female), aged between 19 and 51, who had a diagnosis of autism without co-occurring learning disabilities, and experienced low mood or depression. All participants recorded their thoughts and feelings in a mood diary for 1 week and participated in a semi-structured interview. Three superordinate themes emerged from the data: ‘Autism has made me the person I am’, ‘I can’t function in the world’ and ‘It’s like trying to do accounts on the futures market’: Making sense of emotions. Findings highlight a need for specialist mental health provision for adults who are on the autism spectrum. Limitations of this study and implications for future research are discussed.
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13. Lense MD, Camarata S. {{PRESS-Play: Musical Engagement as a Motivating Platform for Social Interaction and Social Play in Young Children with ASD}}. {Music Sci (Lond)};2020 (Jan-Dec);3
Musical experiences are ubiquitous in early childhood. Beyond potential benefits of musical activities for young children with typical development, there has long been interest in harnessing music for therapeutic purposes for individuals with autism spectrum disorder (ASD). However, there is debate as to the effectiveness of these approaches and thus a need to identify mechanisms of change (or active ingredients) by which musical experiences may impact social development in young children with ASD. In this review, we introduce the PRESS-Play framework, which conceptualizes musical activities for young children with ASD within an applied behavior analysis framework consistent with the principles of naturalistic developmental behavioral interventions. Specifically, the PRESS-Play framework proposes that musical activities support key elements of evidence-based approaches for social engagement including predictability, reinforcement, emotion regulation, shared attention, and social play context, providing a platform for delivery and receipt of social and behavioral instruction via a transactional, developmental approach. PRESS-Play considers that these factors may impact not only the child with ASD but also their interaction partner, such as a parent or peer, creating contexts conducive for validated social engagement and interaction. These principles point to focused theories of change within a clinical-translational framework in order to experimentally test components of social-musical engagement and conduct rigorous, evidence-based intervention studies.
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14. Li A, Gao G, Fu T, Pang W, Zhang X, Qin Z, Ge R. {{Continued development of auditory ability in autism spectrum disorder children: A clinical study on click-evoked auditory brainstem response}}. {Int J Pediatr Otorhinolaryngol};2020 (Aug 7);138:110305.
OBJECTIVES: The study aimed to analyze the developmental mode of auditory at the level of brainstem in preschool autistic children using click-evoked auditory brainstem response (click-ABR). METHODS: Twenty children with autism spectrum disorder (ASD) and 20 age matched typical development children (TD) were recruited. The detail data recorded from click-ABR were collected at two time periods (T1 and T2). RESULTS: There was no significant change in TD group at two time periods. In ASD group, wave V latency was significantly shortened at T2 compared to that recorded at T1. The interpeak latency of I-V was short at T2 versus at T1 in the autistic children. Compared to the TD group, ASD was associated with longer latencies for waves V and longer interpeak latencies of I-III, I-V at T1. In addition, ASD group also indicated longer latencies of wave III and wave V, longer interpeak latencies of I-III and I-V at T2 compared to the TD group. CONCLUSIONS: ASD group had immature and dysfunction developmental mode in auditory stimuli perception at the level of brainstem. The performance of auditory ability in children with ASD improved gradually with ages. However, there are still differences compared with TD children.
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15. Lidstone DE, Miah FZ, Poston B, Beasley JF, Mostofsky SH, Dufek JS. {{Children with Autism Spectrum Disorder Show Impairments During Dynamic Versus Static Grip-force Tracking}}. {Autism Res};2020 (Aug 23)
Impairments in visuomotor integration (VMI) may contribute to anomalous development of motor, as well as social-communicative, skills in children with autism spectrum disorder (ASD). However, it is relatively unknown whether VMI impairments are specific to children with ASD versus children with other neurodevelopmental disorders. As such, this study addressed the hypothesis that children with ASD, but not those in other clinical control groups, would show greater deficits in high-VMI dynamic grip-force tracking versus low-VMI static presentation. Seventy-nine children, aged 7-17 years, participated: 22 children with ASD, 17 children with fetal alcohol spectrum disorder (FASD), 18 children with Attention-Deficit Hyperactivity Disorder (ADHD), and 22 typically developing (TD) children. Two grip-force tracking conditions were examined: (1) a low-VMI condition (static visual target) and (2) a high-VMI condition (dynamic visual target). Low-frequency force oscillations <0.5 Hz during the visuomotor task were also examined. Two-way ANCOVAs were used to examine group x VMI and group x frequency effects (α = 0.05). Children with ASD showed a difficulty, above that seen in the ADHD/FASD groups, tracking dynamic, but not static, visual stimuli as compared to TD children. Low-frequency force oscillations <0.25 Hz were also significantly greater in the ASD versus the TD group. This study is the first to report VMI deficits during dynamic versus static grip-force tracking and increased proportion of force oscillations <0.25 Hz during visuomotor tracking in the ASD versus TD group. Dynamic VMI impairments may be a core psychophysiologic feature that could contribute to impaired development of motor and social-communicative skills in ASD. LAY SUMMARY: Children with autism spectrum disorder (ASD) show difficulties using dynamic visual stimuli to guide their own movements compared to their typically developing (TD) peers. It is unknown whether children without a diagnosis of ASD, but with other neurological disorders, show similar difficulties processing dynamic visual stimuli. In this study, we showed that children with ASD show a difficulty using dynamic, but not static, visual stimuli to guide movement that may explain atypical development of motor and social skills. Lien vers le texte intégral (Open Access ou abonnement)
16. McCrae CS, Chan WS, Curtis AF, Nair N, Deroche CB, Munoz M, Takamatsu S, McLean D, Davenport M, Muckerman JE, Takahashi N, McCann D, McGovney K, Sahota P, Mazurek MO. {{Telehealth cognitive behavioral therapy for insomnia in children with autism spectrum disorder: A pilot examining feasibility, satisfaction, and preliminary findings}}. {Autism};2020 (Aug 25):1362361320949078.
Insomnia is common in children with autism. Cognitive behavioral treatment for childhood insomnia (CBT-CI) may improve sleep and functioning in children with autism and their parents, but typical delivery involving multiple office visits can make it difficult for some children to get this treatment. This pilot study tested telehealth delivery of CBT-CI using computers, which allowed children and their parents to get the treatment at home. This pilot shows therapists that parents and children were able to use telehealth CBT-CI to improve child and parent sleep, child behavior and arousal, and parent fatigue. Parents found telehealth CBT-CI helpful, age-appropriate, and autism-friendly. Telehealth CBT-CI holds promise for treating insomnia in school-aged children with autism and deserves further testing.
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17. Mendoza J, Downs J, Wong K, Leonard H. {{Determinants of quality of life in Rett syndrome: new findings on associations with genotype}}. {J Med Genet};2020 (Aug 25)
BACKGROUND: Rett syndrome is a genetically caused neurodevelopmental disorder associated with functional deficits and comorbidities. This study investigated relationships between genotype, functional abilities and comorbidities and quality of life in Rett syndrome. METHODS: The International Rett Syndrome Database, InterRett, was used as a sampling frame for this observational study. Information was collected to describe functional abilities (walking and feeding), health (Sleep Disorder Scale for Children, the Rett Syndrome Behavioural Questionnaire), parental health (12-item Short Form Health Survey) sociodemographic factors (parental employment and education) and quality of life (Quality of Life Inventory-Disability) for 210 individuals with Rett syndrome. Univariate and multivariate regressions were used to analyse the relationships between the independent variables and quality of life. RESULTS: Compared with individuals with the p.Arg270* mutation, those with the p.Arg294* mutation type had the poorest quality of life (coeff -12.81, 95% CI -23.49 to 2.12), despite this being recognised as a clinically milder genotype. Overall better walking and feeding skills and seizure parameters were more associated with better quality of life and poor sleep and behavioural difficulties with poorer quality of life. CONCLUSIONS: These findings suggest that genotype, functioning and health each have implications for quality of life and should be considered when counselling families and planning clinical and support management strategies.
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18. Nguyen L, Jack S, Ketelaar M, Di Rezze B, Soper AK, Gorter JW. {{Understanding the essential components and experiences of youth with autism spectrum disorders in peer mentorship programs during the transition to adulthood: a qualitative meta-ethnography}}. {Child Care Health Dev};2020 (Aug 25)
BACKGROUND: Youth with an autism spectrum disorder (ASD) often require additional supports during the period of transition to from high school to post-secondary education or career paths. Peer mentorship programs create opportunities to support youth with ASD in identifying their personal, academic, and career goals after graduating from high school, however there is limited insight about the components of these programs that are valued by both participants and peer mentors and that are perceived to contribute to the overall success of a program in achieving their goals. Our objective was to identify, describe and synthesize the components of peer mentorship programs valued by youth with ASD and their peer mentors, as well as to document their experiences in these transitional support services. METHODS: A meta-ethnography was conducted to synthesize qualitative and mixed methods studies of PM programs for youth with ASD. A systematic search of seven databases yielded 142 non-duplicate articles. Data analysis and synthesis involved: 1) extraction of raw data; 2) extraction of study authors’ interpretations, followed by inductive coding; 3) synthesis of key themes; and 4) schematic diagram development to illustrate the relationship of themes. RESULTS: 10 studies of PM programs from Canada (2), United States (4), Australia (3), and United Kingdom (1) were included. Extracted data reflected experiences of 131 mentees and 82 mentors. The essential program components identified were: 1) mentorship; 2) skill building; 3) peer group; and 4) facilitating transition. SIGNIFICANCE: Peer mentorship characterized by clear communication and connection between mentors and mentees was valuable to the success of the program. Peer mentors played an essential role to facilitate the positive experiences that mentees had with program components, including interactions with peer groups. Successful PM programs created a safe environment for mentees to practice skills, and help mentees gain confidence to expand their roles to take leadership in their learning.
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19. Parsons D, Vaz S, Lee H, Robinson C, Cordier R. {{A twelve-month follow-up of an information communication technology delivered intervention for children with autism spectrum disorder living in regional Australia}}. {Res Dev Disabil};2020 (Aug 21);106:103743.
This study investigated the long-term follow-up of an information communication techonology based intervention, the Therapeutic Outcomes By You application, for children with autism spectrum disorder living in regional Australia. Fifteen participants who completed a three-month randomised controlled trial of the Therapeutic Outcomes By You were assessed at least 12 months post-intervention to determine the maintenance or continued improvement of their language and social communication skills. Findings demonstrate the receptive language, social skills, pragmatic language and playfulness of children with autism spectrum disorder improved during the three-month intervention period and were maintained at least 12 months after ceasing the Therapeutic Outcomes By You app intervention.
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20. Raghavan R, Selhub J, Paul L, Ji Y, Wang G, Hong X, Zuckerman B, Fallin MD, Wang X. {{A prospective birth cohort study on cord blood folate subtypes and risk of autism spectrum disorder}}. {Am J Clin Nutr};2020 (Aug 25)
BACKGROUND: We previously reported that extremely high concentrations of maternal plasma folate were associated with increased risk of autism spectrum disorder (ASD) in children. This study explored whether specific types of folate in cord blood have differential association with ASD. OBJECTIVES: In the Boston Birth Cohort (BBC), we assessed the association between cord blood unmetabolized folic acid (UMFA), 5-methyl tetrahydrofolate (THF), and total folate and a child’s ASD risk. In a subset, we explored whether the association between UMFA and ASD risk can be affected by the dihydrofolate reductase (DHFR) genotype and cord plasma creatinine. We also examined prenatal correlates of cord UMFA concentrations. METHODS: This report included 567 BBC children (92 ASD, 475 neurotypical), who were recruited at birth and prospectively followed at the Boston Medical Center. ASD was defined from International Classification of Diseases (ICD)-9 and ICD-10 codes documented in electronic medical records. RESULTS: Children with cord UMFA in the highest, versus lowest quartile, had a greater ASD risk (adjusted OR, aORquartile4: 2.26; 95% CI: 1.08, 4.75). When stratified by race/ethnicity, the association was limited to 311 (45 ASD) Black children (aORquartile4: 9.85; 95% CI: 2.53, 38.31); a test of interaction between race/ethnicity and cord UMFA concentrations was significant (P = 0.007). The UMFA-ASD association in Black children slightly attenuated after adjusting for cord plasma creatinine (P = 0.05). There was no significant association between cord 5-methyl THF, total folate, DHFR genotype, and ASD risk. Cord total folate and maternal supplement intake during second trimester were associated with higher cord UMFA. CONCLUSIONS: Higher concentrations of cord UMFA, but not 5-methyl THF or total folate, were associated with a greater risk of ASD in Black children. This study in a preterm-birth-enriched cohort raises more questions than it could answer and underscores the need for additional investigations on the sources and role of cord UMFA in children’s neurodevelopmental outcomes and underlying mechanisms.
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21. Reynolds CD, Nolan SO, Smith GD, Jefferson TS, Hodges SL, Brewster AL, Lugo JN. {{Increased expression of Fragile X mental retardation protein in malformative lesions of patients with focal cortical dysplasia}}. {Neuroreport};2020 (Aug 20)
OBJECTIVE: Focal cortical dysplasia (FCD) accounts for nearly half of all cases of medically refractory epilepsy in the pediatric and adult patient populations. This neurological disorder stems from localized malformations in cortical brain tissue due to impaired neuronal proliferation, differentiation, and migration patterns. Recent studies in animal models have highlighted the potential role of the Fragile X mental retardation protein (FMRP) levels in FCD. The purpose of this study was to investigate the status of FMRP activation in cortical brain tissues surgically resected from patients with FCD. In parallel, this study also investigated protein levels within the PI3K/AKT/mTOR and canonical Wnt signaling pathways. METHODS: Pathologic tissue from malformative lesions of FCD patients with medically refractory epilepsy was compared to relatively normal control non-epileptic tissue from patients with intracranial neoplasms. A series of western blotting assays were performed to assess key proteins in the PI3K/AKT/mTOR, canonical Wnt signaling pathways, and FMRP. RESULTS: There was suppression of S235/236-phosphorylated S6, GSK3α, and GSK3β protein levels in samples derived from FCD patients, compared to non-epileptic controls. FCD samples also had significantly greater levels of total and S499-phosphorylated FMRP. CONCLUSION: These findings support our hypothesis that malformative lesions associated with FCD are characterized by high levels of FMRP activation along with dysregulation of both PI3K/AKT/mTOR and canonical Wnt signaling. These novel clinical findings extend previous work in animal models, further suggesting a potential unforeseen role of GSK3α, and GSK3β in the pathophysiology of FCD and refractory epilepsy.
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22. Robinson AC, Bajaj N, Hadjivassiliou M, Minshull J, Mahmood A, Roncaroli F. {{Neuropathology of a case of fragile X-associated tremor ataxia syndrome without tremor}}. {Neuropathology};2020 (Aug 23)
Fragile X-associated tremor ataxia syndrome (FXTAS) is a neurodegenerative disorder caused by a CGG trinucleotide expansion from 55 to 200 repeats in the non-coding region of the fragile X mental retardation 1 (FMR1) gene (FMR1). Clinical features include cognitive decline, progressive tremor, and gait ataxia. Neuropathologically, FXTAS shows white matter changes, hippocampal and cerebellar involvement, and p62-positive eosinophilic intranuclear inclusions in astrocytes and neurons. Here, we document the neuropathological findings from a subject who developed cognitive impairment but not tremor and was proved to have genetically confirmed FMR1 premutation. Microscopically, typical p62-postive intranuclear inclusions were present in all the regions examined. Neocortical regions demonstrated gliosis of layer I and mild degree of neuronal loss and atrophy across the other layers. The molecular, Purkinje’s cell, and granule cell layers of the cerebellar folia demonstrated mild gliosis, and cerebellar white matter was mildly affected. Aside from p62-positive inclusions, the hippocampus was spared. Arteries in the deep white matter often showed changes consistent with moderate small vessel disease (SVD). Reactive gliosis and severe SVD were features of basal ganglia. Florid reactive astrocytosis was found in the white matter of all regions. Axonal loss and features of axonal damage were found in the white matter of the centrum semiovale. Microglial activation was widespread and evenly seen in both the white matter and grey matter, although the grey matter appeared more severely affected. Pathology associated with Alzheimer’s disease was limited. Similarly, no abnormal accumulations of α-synuclein were present. We postulate that age at death and disease duration may play a role in the extent of the pathological features associated with FXTAS. The present results suggest that immunohistochemical staining for p62 can help with the diagnosis of cases with atypical phenotype. In addition, it is likely that the cognitive impairment observed was a result of white matter changes.
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23. Rubenstein E, Croen L, Lee LC, Moody E, Schieve LA, Soke GN, Thomas K, Wiggins L, Daniels J. {{Community-based service use in preschool children with autism spectrum disorder and associations with insurance status}}. {Res Autism Spectr Disord};2019 (Oct);66
BACKGROUND: ASD-related services can improve outcomes for children, but less is known about service outside of school settings during preschool age. We aimed to describe amount and category of community-based service use among 3-5-year-old children with ASD and examine differences by health insurance. METHODS: We used cross-sectional data on 792 children with ASD diagnoses in the Study to Explore Early Development, a community-based study of neurodevelopment with enrollment between 2012-2016. Mothers reported current child service use and insurance status at study entry. We used log-Poisson and logistic regression to compare service use by insurance group. RESULTS: Nearly 40% of children were not receiving community-based services at study entry. Children with public insurance had fewer total services than children with private or both insurances. After adjustment for sociodemographic confounders, insurance status was not associated with types of different categories of community-based services. However, children with public insurance alone were least likely to receive community-based behavioral therapy and most likely to receive psychotropic medication compared to other insurances. CONCLUSION: Many preschool-aged children do not receive community-based services, with receipt associated with insurance type. Increasing access and availability for evidence-based service, especially for beneficiaries of public insurance, may improve service use and outcomes.
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24. Saitow F, Takumi T, Suzuki H. {{Upregulated 5-HT(1A) receptor-mediated currents in the prefrontal cortex layer 5 neurons in the 15q11-13 duplication mouse model of autism}}. {Mol Brain};2020 (Aug 24);13(1):115.
Serotonin (5-HT) is a well-known modulator of behavioral, physiological, and emotional functions of the forebrain region. We recently discovered alterations of serotonergic synaptic modulations in both, the prefrontal cortex (PFC) and the somatosensory cortex, in the 15q dup mouse model of autism spectrum disorder (ASD). To further understand the roles of the 5-HT system implicated in developmental disorders such as ASD, comparison with model animals exhibiting different phenotypes may be useful. In this study, we investigated the relationship between sociability and the magnitude of 5-HT(1A) receptor (5-HT(1A)R) activation-induced outward currents from layer 5 pyramidal neurons in the PFC, because a mouse model of Williams-Beuren syndrome (WBS; another developmental disorder exhibiting low innate anxiety and high sociability) reportedly showed larger 5-HT-induced currents. To investigate whether the 5-HT(1A)R activation-induced outward currents are involved in the endophenotype determination of social behavior, we examined 15q dup mice with a phenotype opposite to WBS. We found 5-HT elicited significantly larger outward currents in 15q dup mice than in WT controls, regardless of sociability. In contrast, baclofen-induced GABA(B) receptor-mediated outward currents were not significantly different between genotypes, although GABA(B) receptor was coupled to G(i/o) as well as 5-HT(1A). Further, we found the larger 5-HT(1A)R-mediated currents in 15q dup mice did not affect the magnitude of inhibitory action of NMDA receptor functions. Taken together, our results provide a potential physiological hallmark for developmental disorders that may involve the imbalance of the neuronal circuity in the PFC.
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25. Smith GS, Fleming M, Kinnear D, Henderson A, Pell JP, Melville C, Cooper SA. {{Mortality in 787,666 school pupils with and without autism: A cohort study}}. {Autism};2020 (Aug 24):1362361320944037.
There are few studies on the deaths of children and young people with autism; some studies on children and adults combined suggest that those with autism may have higher death rates than other people. More children are diagnosed with autism than in the past, suggesting that there are now more children with milder autism who have the diagnosis than in the past, so studies in the past might not apply to the current generation of children and young people diagnosed with autism. We examined the rates of death in children and young people in Scotland using recorded information in Scotland’s annual pupil census, linked to the National Records of Scotland deaths register, between 2008 and 2015. In total, 9754 (1.2%) out of 787,666 pupils had autism. Six pupils with autism died in the study period, compared with 458 other pupils. This was equivalent to 16 per 100,000 for pupils with autism and 13 per 100,000 pupils without autism; hence, the rate of death was very similar. In the pupils with autism, the most common causes of death were diseases of the nervous system, whereas they were from external causes in the comparison pupils. The autism group had some deaths due to epilepsy which might have been prevented by good quality care. We cautiously conclude that the death rate in the current generation of children and young adults with autism is no higher than for other children, but that even in this high-income country, some deaths could be prevented by high quality care.
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26. Towle PO, Patrick PA, Ridgard T, Pham S, Marrus J. {{Is Earlier Better? The Relationship between Age When Starting Early Intervention and Outcomes for Children with Autism Spectrum Disorder: A Selective Review}}. {Autism Res Treat};2020;2020:7605876.
Although the conventional wisdom is that « earlier is better » when it comes to intervention for children with ASD, it is not clear what evidence exists to support this notion. This review examined a group of studies that addressed outcomes for young children with ASD who started early intervention at a range of ages. The review was selective by including only papers that examined the age of initiation of treatment as well as baseline cognitive, language, or adaptive level and, in addition, employed a method to control for the covariance between early ability level and age of beginning intervention. Fourteen studies were identified and then compared on methods and outcomes. The support for « earlier is better » was mixed, but it was clear that complex relationships among predictor variables need to be explored in order to understand the role of age of starting early intervention for later outcomes.
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27. von Ehrenstein OS, Cui X, Yan Q, Aralis H, Ritz B. {{Maternal Prenatal Smoking and Autism Spectrum Disorder in Offspring: a California Statewide Cohort and Sibling Study}}. {Am J Epidemiol};2020 (Aug 24)
We examined associations between maternal smoking and autism spectrum disorder (ASD) in children in a statewide population-based cohort and sibling comparison design using California birth records (n=2,015,104) with information on maternal smoking, demographics and pregnancy (2007-2010). ASD cases (n=11,722) were identified through California Department of Developmental Services records with diagnoses based on the Diagnostic and Statistical Manual of Mental Disorders-IV-R. We estimated odds ratios (OR) for ASD with/without intellectual disability in the full cohort using logistic regression, and conditional logistic regression in a sibling comparison. In the full cohort, the adjusted OR for ASD and maternal smoking 3-months before/during pregnancy compared to non-smoking was 1.15 (95%CI: 1.04, 1.26), and was similar in cases with (OR=1.12, 95%CI: 0.84, 1.49) and without intellectual disability (OR=1.15, 95%CI: 1.04, 1.27); heavy prenatal smoking (20+ cigarettes/day in any trimester) was related to 58% risk increase (95%CI: 23%, 101%). In the sibling comparison, the OR for heavy smoking was similarly elevated but the CI was wide. Our findings are consistent with an increased risk for ASD in offspring of mothers who smoked 20+ cigarettes/day during pregnancy; associations with lighter smoking were weaker.
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28. Wang X, Kohl A, Yu X, Zorio DAR, Klar A, Sela-Donenfeld D, Wang Y. {{Temporal-specific roles of fragile X mental retardation protein in the development of the hindbrain auditory circuit}}. {Development};2020 (Aug 25);147(21)
Fragile X mental retardation protein (FMRP) is an RNA-binding protein abundant in the nervous system. Functional loss of FMRP leads to sensory dysfunction and severe intellectual disabilities. In the auditory system, FMRP deficiency alters neuronal function and synaptic connectivity and results in perturbed processing of sound information. Nevertheless, roles of FMRP in embryonic development of the auditory hindbrain have not been identified. Here, we developed high-specificity approaches to genetically track and manipulate throughout development of the Atoh1(+) neuronal cell type, which is highly conserved in vertebrates, in the cochlear nucleus of chicken embryos. We identified distinct FMRP-containing granules in the growing axons of Atoh1(+) neurons and post-migrating NM cells. FMRP downregulation induced by CRISPR/Cas9 and shRNA techniques resulted in perturbed axonal pathfinding, delay in midline crossing, excess branching of neurites, and axonal targeting errors during the period of circuit development. Together, these results provide the first in vivo identification of FMRP localization and actions in developing axons of auditory neurons, and demonstrate the importance of investigating early embryonic alterations toward understanding the pathogenesis of neurodevelopmental disorders.
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29. Zou R, Xu F, Wang Y, Duan M, Guo M, Zhang Q, Zhao H, Zheng H. {{Changes in the Gut Microbiota of Children with Autism Spectrum Disorder}}. {Autism Res};2020 (Aug 24)
Alterations in the gut microbiota may influence gastrointestinal (GI) dysbiosis frequently reported in individuals with autism spectrum disorder (ASD). In this study, we sequenced the bacterial 16S rRNA gene to evaluate changes in fecal microbiota between 48 children with ASD and 48 healthy children in China. At the phylum level, the number of Firmicutes, Proteobacteria, and Verrucomicrobia decreased in children with ASD, while the Bacteroidetes/Firmicutes was significantly higher in autistic children due to enrichment of Bacteroidetes. At the genus level, the amount of Bacteroides, Prevotella, Lachnospiracea_incertae_sedis, and Megamonas increased, while Clostridium XlVa, Eisenbergiella, Clostridium IV, Flavonifractor, Escherichia/Shigella, Haemophilus, Akkermansia, and Dialister decreased in children with ASD relative to the controls. Significant increase was observed in the number of species synthesizing branched-chain amino acids (BCAAs), like Bacteroides vulgatus and Prevotella copri, while the numbers of Bacteroides fragilis and Akkermansia muciniphila decreased in children with ASD compared to the controls. Most importantly, the highest levels of pathogenic bacteria were different for each child with ASD in this cohort. We found that only one functional module, cellular antigens, was enriched in children with ASD, and other pathways like lysine degradation and tryptophan metabolism were significantly decreased in children with ASD. These findings provide further evidence of altered gut microbiota in Chinese ASD children and may contribute to the treatment of patients with ASD. LAY SUMMARY: This study characterized the gut bacteria composition of 48 children with ASD and 48 neurotypical children in China. The metabolic disruptions caused by altered gut microbiota may contribute significantly to the neurological pathophysiology of ASD, including significant increases in the number of species synthesizing BCAAs, and decreases in the number of probiotic species. These findings suggest that a gut microbiome-associated therapeutic intervention may provide a novel strategy for treating GI symptoms frequently seen in individuals with ASD.
