Pubmed du 23/11/21
1. AlOtaibi A, Ben Shaber S, AlBatli A, AlGhamdi T, Murshid E. A systematic review of population-based gingival health studies among children and adolescents with autism spectrum disorder. The Saudi dental journal. 2021; 33(7): 370-4.
The prevalence of autism spectrum disorder (ASD) is close to 1% in the United States of America and other countries. Special attention should be given to oral health in individuals with ASD as they are often affected by oral diseases. However, gingival health in children with ASD and adolescents is controversial in terms of the severity of disease and number of people affected. AIM: To conduct a systematic review and meta-analysis to assess the gingival health status of children and adolescents with ASD. METHODS: The search was conducted using eight databases for articles that met the inclusion and exclusion criteria. This search produced 742 relevant papers, but only five with sufficient data on gingival and plaque indices were eligible for inclusion in this systematic review and meta-analysis. RESULTS: The homogeneity of the sample was tested using the Cohen Q test, which identified significant heterogeneity (P < 0.0001), indicating the use of the random effect's standard mean difference. Significantly higher gingival index and plaque index values were found in children and adolescents with ASD than in children without ASD. CONCLUSION: Individuals with ASD need help and better access to oral healthcare. Further investigation is needed with regard to gingival health in individuals with ASD and caries risk assessment to understand how this disorder affects oral health. A standardized index for gingival health will help in the inclusion of more studies to assess gingival health in children and adolescents with ASD.
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2. Alrahili N, Almarshad NA, Alturki RY, Alothaim JS, Altameem RM, Alghufaili MA, Alghamdi AA, Alageel AA. The Association Between Screen Time Exposure and Autism Spectrum Disorder-Like Symptoms in Children. Cureus. 2021; 13(10): e18787.
Research problem Advances in technology have ensured its inevitable integration in our life. Children, being at a vulnerable age period of development, are spending more time on electronic devices. Some studies reported negative effects on sleep, physical health such as obesity and vision problems, and behavioral changes such as aggressive behavior with exposure to violent media content. Research significance We will study the effect of using electronic devices on communication skills in children in Saudi Arabia. Our findings can be used to raise awareness on this matter. Research objectives The aim of our study is to examine the association between screen time and social communication skills among children of four years to six years of age in Saudi Arabia. Research methodology A cross-sectional study was conducted to investigate the relationship between social skills development and screen time by using a validated Arabic version of the Social Communication Questionnaire (SCQ). The sample in this study consists of 308 children from four to six years of age. Research results The results showed that the hours spent using the electronic device were significantly associated with having an SCQ score ≥ 15 (P < 0.05). A high SCQ score was prevalent in 19.7% (n = 31) of children who spent >3 hours using an electronic device compared to 10.2% (n = 5) and 7.84% (n = 8) of children who spent an hour or <2 hours using electronic devices, respectively. Conclusion Our study highlighted a significant association between the daily hours spent on devices and having an SCQ score above 15, which suggests a deficit in social skill development and having autism spectrum disorder-like symptoms.
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3. Aylward SM, Farrell A, Walsh A, Godwin M, Chafe R, Asghari S. Quality of Primary Care for the Adult Population With Autism Spectrum Disorder: Protocol for a Scoping Review. JMIR research protocols. 2021; 10(11): e28196.
BACKGROUND: A strong primary care system is vital to overall health. Research on the primary care of people with autism spectrum disorder (ASD) has mostly focused on children. A synthesis of the existing literature related to the quality of primary care for the adult population with ASD would elucidate what is known about the topic as well as inform future research and clinical practice. OBJECTIVE: The purpose of our scoping review is to describe what is known about the quality of primary care for adults with ASD and identify knowledge gaps. METHODS: Prior to beginning the literature search, we reviewed literature related to defining both primary care and primary care quality to establish the context and concept of the research question. The search strategy was designed and executed by a research librarian. The MEDLINE, CINAHL, EMBASE, PsycINFO, and ProQuest Dissertations and Theses databases were searched for relevant literature. Grey literature will include relevant reports from government websites and associations with a focus on ASD. Two members of the research team will independently screen the academic and grey literature. Quantitative, qualitative, or mixed methods study designs involving the quality of primary care services or patient-centered care for adults with ASD are eligible for inclusion in our scoping review. Studies that make it past the full-text review will undergo data extraction and quality appraisal by 2 independent reviewers. The data extraction results will be presented in a tabular format to clearly present what is known about the quality of primary care for adults with ASD; this table will be accompanied by a narrative synthesis. Literature selected for extraction will be coded for themes, which will form the basis of a thematic synthesis. The scoping review will follow the guidance proposed by the Joanna Briggs Institute. RESULTS: The search of electronic databases was conducted in October 2020, and it returned 2820 results. This research is still in progress. The results from our scoping review are expected to be available by fall 2021. CONCLUSIONS: The results from our scoping review will be useful for guiding future research on the quality of primary care for adults with ASD. INTERNATIONAL REGISTERED REPORT IDENTIFIER (IRRID): PRR1-10.2196/28196.
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4. Baker E, Veytsman E, Choy T, Blacher J, Stavropoulos KKM. Investigating Changes in Reward-Related Neural Correlates After PEERS Intervention in Adolescents With ASD: Preliminary Evidence of a « Precision Medicine » Approach. Frontiers in psychiatry. 2021; 12: 742280.
Background: The Social Motivation Hypothesis proposes that individuals with autism spectrum disorder (ASD) experience social interactions as less rewarding than their neurotypical (TD) peers, which may lead to reduced social initiation. Existing studies of the brain’s reward system in individuals with ASD report varied findings for anticipation of and response to social rewards. Given discrepant findings, the anticipation of and response to social rewards should be further evaluated, particularly in the context of intervention outcome. We hypothesized that individual characteristics may help predict neural changes from pre- to post-intervention. Methods: Thirteen adolescents with ASD received the Program for the Education and Enrichment of Relational Skills (PEERS) intervention for 16 weeks; reward-related EEG was collected before and after intervention. Fourteen TD adolescents were tested at two timepoints but did not receive intervention. Event-related potentials were calculated to measure anticipation of (stimulus-preceding negativity; SPN) and response to (reward-related positivity; RewP) social and non-social rewards. Additionally, measures of social responsiveness, social skills, and intervention-engagement were collected. Group differences were analyzed as well as individual differences using prediction models. Result: Parent-reported social responsiveness and social skills improved in adolescents with ASD after participation in PEERS. ASD adolescents displayed marginally decreased anticipation of social rewards at post-intervention compared to pre-intervention. Regression models demonstrated that older adolescents and those with lower parent-reported social motivation prior to participation in PEERS displayed marginally increased social reward anticipation (more robust SPN) from pre- to post-intervention. Participants who displayed more parent-reported social motivation before intervention and were more actively engaged in the PEERS intervention evidenced increased social reward processing (more robust RewP) from pre- to post-intervention. Conclusion: Findings suggest that there may be differences in saliency between wanting/anticipating social rewards vs. liking/responding to social rewards in individuals with ASD. Our findings support the hypothesis that identification of individual differences may predict which adolescents are poised to benefit the most from particular interventions. As such, reported findings set the stage for the advancement of « precision medicine. » This investigation is a critical step forward in our ability to understand and predict individual response to interventions in individuals with ASD.
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5. Blázquez Hinojosa A, Lázaro Garcia L, Puig Navarro O, Varela Bondelle E, Calvo Escalona R. Sensitivity and specificity of DSM-5 diagnostic criteria for autism spectrum disorder in a child and adolescent sample. Revista de psiquiatria y salud mental. 2021; 14(4): 202-11.
BACKGROUND: Controversy exists regarding the DSM-5 criteria for autism spectrum disorders (ASD). Given the mixed results that have been reported, our main aim was to determine DSM-5 sensitivity and specificity in a child and adolescent Spanish sample. As secondary goals, we assessed the diagnostic stability of DSM-IV-TR in DSM-5, and clinical differences between children diagnosed with an ASD or a social (pragmatic) communication disorder (SPCD). METHODS: This study was carried out in 2017, reviewing the medical records of patients evaluated in our service. Items from a parent report measure of ASD symptoms (Autism Diagnostic Interview-Revised) were matched to DSM-5 criteria and used to assess the sensitivity and specificity of the DSM-5 criteria and current DSM-IV criteria when compared with clinical diagnoses. RESULTS: DSM-5 sensitivity ranged from .69 to 1.00, and was higher in females. By age, the DSM-5 and DSM-IV-TR criteria showed similar sensitivity. In the case of intellectual quotient, DSM-5 criteria sensitivity was lower for those in the « low-functioning » category. DSM-5 specificity ranged from .64 to .73, while DSM-5 specificity was similar for all phenotypic subgroups. With respect to stability, 83.3% of autism disorder cases retained a diagnosis of ASD using the DSM-5 criteria. With regard to differences between ASD and SPCD, we found that patients diagnosed with ASD received more pharmacological treatment than those diagnosed with SPCD. CONCLUSIONS: Further research is required to confirm our results. Studies focusing on the SPCD phenotype will be necessary to determine outcome differences with ASD and the most effective diagnostic and therapeutic tools.
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6. Chien CW, Lai YYC, Lin CY, Graham F. Occupational Performance Coaching With Parents to Promote Community Participation of Young Children With Developmental Disabilities: Protocol for a Feasibility and Pilot Randomized Control Trial. Frontiers in pediatrics. 2021; 9: 720885.
Background: High rates of restricted community participation have been reported in young children with developmental disabilities. Occupational performance coaching (OPC), grounded in self-determination theory, aims to facilitate children’s participation in life situations through coaching parents. However, there have been limited randomized controlled trials demonstrating the efficacy of OPC, especially with a specific focus on children’s community participation. The proposed study is the first step in evaluating the feasibility and acceptability of conducting a pilot randomized controlled trial of OPC in Hong Kong and testing its initial efficacy (in comparison to parent consultation) in promoting children’s community participation. Method/Design: A feasibility and pilot double-blind randomized controlled trial will be undertaken. Fifty children aged 6 years or below with developmental disabilities and their parents will be recruited from early intervention centers and/or through social media in Hong Kong. Parents will be randomly assigned to receive OPC or consultation, and will be blinded to group allocation. Outcomes will be assessed by blinded assessors at baseline, pre-intervention, post-intervention, and follow-up. Predetermined success criteria will be used to assess the feasibility of the trial. Qualitative interviews will be conducted with parents to explore the acceptability and perceived impact of OPC. Discussion: This trial will test whether the study protocol and OPC are feasible and acceptable, as well as assess the initial efficacy of OPC to obtain effect size estimates. The results of the trial will inform future preparations for conducting a full-scale efficacy trial of OPC. Trial Registration: ClinicalTrials.gov, U.S. National Library of Medicine, National Institutes of Health (#NCT04796909), Registered on 15th March 2021.
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7. Dickson KS, Galligan ML, Lok H. Short report: A quantitative methodological review of participant characteristics in the literature testing mental health interventions for youth with autism spectrum disorder. Autism : the international journal of research and practice. 2022; 26(4): 995-1000.
Previous research has highlighted the importance of mental health treatment for autistic youth. In that research base, most studies focus on demonstrating the efficacy of a particular intervention with a sample of autistic youth. However, understanding the characteristics of samples used within these studies (i.e. demographics) is an important avenue for expanding this research to a more diverse, representative sample of autistic youth in community settings. As such, the current review examined and characterized participants included within mental health treatment research. We coded studies for various demographics among the youth sample, caregivers, and providers participants. Results indicated that while efforts have been made to increase diversity in research, very few studies including transition-aged youth, those identifying as female, and/or those identifying as non-Caucasian. Clinically, a few studies included youth with lower cognitive abilities and/or those with specific mental health problems (e.g. trauma and depression) or more than one co-occurring mental health conditions. Overall, our results highlight several critical gaps in our current evidence base regarding mental health treatment for autistic youth, including the limited clinical representativeness of both provider and child participants.
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8. Hernández Expósito S, Acosta Rodríguez V, Ramírez-Santana GM. Overlapping in memory profiles in Spanish children with autism spectrum disorders, developmental language disorders, and attention deficit hyperactivity disorder. Applied neuropsychology Child. 2021: 1-10.
Neurodevelopmental disorders do not have biological markers that allow for their identification. This means that in most cases, diagnosis is based on behavior. This approach implies that difficulties will exist in establishing the diagnostic boundaries of the different nosological entities, and it argues that neurodevelopmental disorders probably share neuropsychological deficits. Our main objective was to study whether neurodevelopmental disorders share a common endophenotype. We carried out a study of memory in children with Autism Spectrum Disorders (ASD), Developmental Language Disorders (DLD), and Attention Deficit Hyperactivity Disorder (ADHD). For this purpose, we administered an extensive neuropsychological battery to evaluate memory to 24(ASD), 25(DLD), and 25(ADHD) children. The results obtained by these three clinical groups were contrasted with those obtained by a group of 25 children of typical development (TD). TD group performed better in all memory tasks, except the recognition task than the clinical groups, and the clinical groups showed slight differences among themselves in their performance in memory tasks. These results show that memory deficits could represent a common endophenotype at least in these three neurodevelopmental disorders and emphasize the need to intervene in memory disorders in this population.
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9. Kim DH, Krakowiak P, Meltzer A, Hertz-Picciotto I, Van de Water J. Neonatal chemokine markers predict subsequent diagnosis of autism spectrum disorder and delayed development. Brain, behavior, and immunity. 2022; 100: 121-33.
Immune dysregulation has been found to be related to a diagnosis of autism spectrum disorder (ASD). However, investigations in very early childhood examining immunological abnormalities such as altered neonatal cytokine/chemokine profiles in association with an aberrant developmental trajectory, are sparse. We assessed neonatal blood spots from 398 children, including 171 with ASD, which were subdivided according to severity (121 severe, 50 mild/moderate) and cognitive/adaptive levels (144 low-functioning, 27 typical to high-functioning). The remainder were 69 children with developmental delay (DD), and 158 with typical development (TD), who served as controls in the Childhood Autism Risks from Genetics and the Environment (CHARGE) study. Exploratory analysis suggested that, in comparisons with TD and DD, CTACK (CCL27) and MPIF-1 (CCL23), respectively, were independently associated with ASD. Higher neonatal levels of CTACK were associated with decreased odds of ASD compared to TD (odds ratio [OR] = 0.40, 95% confidence interval [Cl] 0.21, 0.77), whereas higher levels of MPIF-1 were associated with increased odds of ASD (OR = 2.38, 95% Cl 1.42, 3.98) compared to DD but not to TD. MPIF-1 was positively associated with better scores in several developmental domains. Dysregulation of chemokine levels in early life can impede normal immune and neurobehavioral development, which can lead to diagnosis of ASD or DD. This study collectively suggests that certain peripheral chemokines at birth are associated with ASD progression during childhood and that children with ASD and DD have distinct neonatal chemokine profiles that can differentiate their diagnoses.
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10. Kwon SJ, Hong KW, Choi S, Hong JS, Kim JW, Kim JW, Lee HJ, Jang HB, Yum KS. Association of 3-hydroxy-3-methylglutaryl-coenzyme A reductase gene polymorphism with obesity and lipid metabolism in children and adolescents with autism spectrum disorder. Metabolic brain disease. 2022; 37(2): 319-28.
The prevalence of obesity among children and adolescents with autism spectrum disorder (ASD) is higher than that among typically developing children and adolescents. However, very few studies have explored the genetic factors associated with obesity in children and adolescents with ASD. Thus, the aim of this study was to examine the associations between 3-hydroxy-3-methylglutaryl-coenzyme A reductase (HMGCR) gene polymorphisms and obesity among children and adolescents with ASD. The study participants consisted of 33 children and adolescents with ASD and 271 age- and sex-matched typically developing controls. We compared the metabolic traits (body mass index, blood pressure, triglyceride, high-density lipoprotein, and fasting glucose levels) between the ASD and control group. Furthermore, we assessed the genotypes of rs12654264 in the HMGCR gene within the participants with ASD, and compared metabolic traits among the different allele subgroups. The mean body mass index (BMI) and triglyceride level of the ASD group were significantly higher than those of the control group. Within the ASD group, the triglyceride level of participants with rs12654264-T alleles was significantly higher than that of participants with A-alleles. A pattern of increasing values in the BMI and fasting glucose was also observed in participants with T allele. This is the first study to show that obesity in children and adolescents with ASD is associated with the cholesterol synthesis pathway. Future studies are needed to further clarify the molecular mechanisms by which the HMGCR gene influences metabolic traits.
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11. McDonald NM. Studying the early emergence of autism: what is the goal of baby siblings research?. Developmental medicine and child neurology. 2022; 64(5): 534.
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12. Nassir N, Bankapur A, Samara B, Ali A, Ahmed A, Inuwa IM, Zarrei M, Safizadeh Shabestari SA, AlBanna A, Howe JL, Berdiev BK, Scherer SW, Woodbury-Smith M, Uddin M. Single-cell transcriptome identifies molecular subtype of autism spectrum disorder impacted by de novo loss-of-function variants regulating glial cells. Human genomics. 2021; 15(1): 68.
BACKGROUND: In recent years, several hundred autism spectrum disorder (ASD) implicated genes have been discovered impacting a wide range of molecular pathways. However, the molecular underpinning of ASD, particularly from the point of view of ‘brain to behaviour’ pathogenic mechanisms, remains largely unknown. METHODS: We undertook a study to investigate patterns of spatiotemporal and cell type expression of ASD-implicated genes by integrating large-scale brain single-cell transcriptomes (> million cells) and de novo loss-of-function (LOF) ASD variants (impacting 852 genes from 40,122 cases). RESULTS: We identified multiple single-cell clusters from three distinct developmental human brain regions (anterior cingulate cortex, middle temporal gyrus and primary visual cortex) that evidenced high evolutionary constraint through enrichment for brain critical exons and high pLI genes. These clusters also showed significant enrichment with ASD loss-of-function variant genes (p < 5.23 × 10(-11)) that are transcriptionally highly active in prenatal brain regions (visual cortex and dorsolateral prefrontal cortex). Mapping ASD de novo LOF variant genes into large-scale human and mouse brain single-cell transcriptome analysis demonstrate enrichment of such genes into neuronal subtypes and are also enriched for subtype of non-neuronal glial cell types (astrocyte, p < 6.40 × 10(-11), oligodendrocyte, p < 1.31 × 10(-09)). CONCLUSION: Among the ASD genes enriched with pathogenic de novo LOF variants (i.e. KANK1, PLXNB1), a subgroup has restricted transcriptional regulation in non-neuronal cell types that are evolutionarily conserved. This association strongly suggests the involvement of subtype of non-neuronal glial cells in the pathogenesis of ASD and the need to explore other biological pathways for this disorder.
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13. Nenniger G, Hofmann V, Müller CM. Gender Differences in Peer Influence on Autistic Traits in Special Needs Schools-Evidence From Staff Reports. Frontiers in psychology. 2021; 12: 718726.
Children and adolescents with an intellectual disability (ID) and autistic traits often attend special needs schools where they are surrounded by peers with diverse characteristics. Given the role that peers can play in social development, we examined whether autistic traits development in students with ID and high levels of such characteristics are influenced by the level of autistic traits among the schoolmates they like most. Furthermore, we investigated the degree to which this peer influence susceptibility depends on students’ gender. A longitudinal design, with data collection points at the beginning and the end of a school year, was used. Staff reported on 330 students with high levels of autistic traits (20.6% girls; age 10.17 years, SD = 3.74) who attended 142 classrooms in 16 Swiss special needs schools. Results showed that students’ future individual level of autistic traits (T2) was not predicted by the autistic traits level of preferred peers (T1), controlling for individual autistic traits at T1, level of general functioning, gender, and age. However, the peer effect was significantly moderated by students’ gender, indicating that girls but not boys were susceptible to peer influence. These findings are discussed in terms of implications for understanding autistic traits development and directions of support for children and adolescents in their peer context.
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14. Oduyemi AY, Okafor IP, Eze UT, Akodu BA, Roberts AA. Internalization of stigma among parents of children with autism spectrum disorder in Nigeria: a mixed method study. BMC psychology. 2021; 9(1): 182.
BACKGROUND: Autism Spectrum disorder (ASD) has uniquely stigmatizing aspects because children with ASD have no physical markers of their condition. Parents are usually blamed and judgment from others is often internalized (felt stigma). AIM: This study was conducted to determine knowledge about ASD, negative experiences (enacted stigma), internalization of stigma (felt or self stigma) and its correlates among parents of children with ASD in Lagos, Nigeria. METHODS: This was a cross-sectional study of 230 parents in Lagos, Nigeria employing mixed-method data collection methods. Quantitative data were collected using a structured interviewer-administered questionnaire and analyzed with Epi- Info™ version 7.0 statistical package. Data were summarized with proportions, mean and standard deviation. Chi square and Spearman’s correlation tests were done, and the level of significance was pre-determined at 5% (p < 0.05). In-depth interviews were also conducted among six parents to further explore the topic. The interviews were analyzed narratively. RESULTS: The proportion of mothers and fathers were 175 (76.1%) and 55 (23.9%) respectively. The mean age of respondents was 42 ± 8.5 years. Overall knowledge of ASD was very poor as only 3(1.3%) had good knowledge. Overall, 122(53%) usually had negative experience of parenting a child with ASD (enacted stigma), mothers (17.1%) more than fathers (9.1%). Majority 192(83.5%) internalized stigma. There was a low-moderate correlation between 'enacted' stigma and 'internalized' stigma (ρ- 0.400, p < 0.001). From in-depth interviews, many parents revealed that their child's condition had negative effects on the family. Many also recounted negative experience of stigma. CONCLUSION: Overall, parents of children with ASD had poor knowledge of the condition. Majority internalized stigma and this increases with negative treatment from others. Parents should be properly educated about ASD. Community-based education to increase awareness about ASD in addition to encouraging people to show empathy and reduce stigmatizing behaviour towards parents of children with ASD are recommended.
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15. Özgün N, Şahin Y. A case with congenital disorder of glycosylation with defective fucosylation 2 and new mutation in FUK gene. Brain & development. 2022; 44(3): 239-43.
INTRODUCTION: Congenital disorders of glycosylation (CDG) is a group of rare, hereditary, multisystem disorders, predominantly affecting nervous system. There are N- and O- types of glycosylation. Fucosylation, a form of N-glycosylation, involves many enzymes. Until today, type 1 and type 2 fucosylation defects were identified, having pathogenic variants in genes encoding α-1,6-fucosyltransferase and fucokinase enzymes, respectively. In this article, a patient with type 2 fucosylation defect will be presented, with hypotonia, developmental delay and blindness and a pathogenic variant that was previously described in two patients. METHOD: Whole exome sequencing (WES) was performed, since the patient had no time to implement diagnostic algorithm for hypotonia etiology. RESULTS: WES revealed a new pathogenic variant of homozygous c.993_1011del (p.Glu335Hisfs*55) frameshift variant of the FUK gene NM_145059 transcript. She had milder clinical manifestation than reported two patients. CONCLUSION: Congenital Defect of Glycosylation should be considered when the clinical findings cannot be explained by other known diseases, particularly in patients with multisystemic, predominantly neurological involvement.
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16. Pane HM, Sidener TM, Reeve SA, Kisamore A, Nirgudkar A. A comparison of development-matched and age-matched targets on play skills of children with autism spectrum disorder. Journal of applied behavior analysis. 2022; 55(1): 195-213.
Although neurotypical children often spend the majority of their time engaged in play activities, children with autism spectrum disorder (ASD) can present with substantial delays in the development of play skills, requiring intensive intervention. Although targets for language and basic learning skills are often selected based on the development of neurotypical children (e.g., Sundberg, 2008), little research has been conducted on methods for selecting play skill targets. The current study compared acquisition of play skills that were development-matched (DM) and age-matched (AM) with 4 children diagnosed with ASD. Targets were selected based on the results of the Developmental Play Assessment (DPA; Lifter, 2008). No contrived prompts or consequences were used to teach play skills in either condition. Generalization was programmed for by teaching with 3 sets of toys in both conditions. All participants demonstrated acquisition of DM play targets and generalization to novel toys; none of the participants acquired AM play targets.
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17. Parikh MR, O’Dell SM, Cook LA, Corlis M, Sun H, Gass M. Integrated care is associated with increased behavioral health access and utilization for youth in crisis. Families, systems & health : the journal of collaborative family healthcare. 2021; 39(3): 426-33.
INTRODUCTION: Pediatric integrated care is well-positioned to play a substantial role in crisis intervention; however, few studies have investigated the impact of these services. METHOD: We investigated differences in service utilization for youth experiencing a crisis in a large, predominantly rural health system by comparing outcomes for 171 youth who received a crisis evaluation in a primary care behavioral health (PCBH) setting to 171 youth presenting to the emergency department at the main hospital campus using a retrospective cohort study design. RESULTS: PCBH patients were less likely to be male, more likely to be diagnosed with an Adjustment Disorder and less likely to be diagnosed with Autism Spectrum Disorder. Youth evaluated in PCBH were more likely to receive a psychiatric admission, had a shorter latency to the next BH appointment, and had higher rates of completing at least 1 visit in the year following the evaluation. A statistically nonsignificant reduction in frequency of psychiatric admission was observed in the year after the index date, with 3 integrated care patients (vs. 18 on index date) and 5 ED patients (vs. 6 on index date) admitted. DISCUSSION: Opportunities for future research on cost-effectiveness of care and continuous improvement aligned with quadruple aim outcomes are discussed. Overall, this study is among few others investigating the potential for pediatric integrated care models to contribute to youth suicide prevention and the study demonstrated promising increases in access and engagement with timely behavioral health care. (PsycInfo Database Record (c) 2021 APA, all rights reserved).
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18. Pearl PL, DiBacco ML, Roullet JB, Gibson KM. Proceedings of the International SSADH Deficiency 2020 Conference. Journal of child neurology. 2021; 36(13-14): 1151-2.
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19. Phung J, Penner M, Pirlot C, Welch C. What I Wish You Knew: Insights on Burnout, Inertia, Meltdown, and Shutdown From Autistic Youth. Frontiers in psychology. 2021; 12: 741421.
Introduction: Burnout, inertia, meltdown, and shutdown (BIMS) have been identified as important parts of some autistic people’s lives. This study builds on our previous work that offered early academic descriptions of these phenomena, based on the perspectives of autistic adults. Objectives: This study aimed to explore the unique knowledge and insights of eight autistic children and youth to extend and refine our earlier description of burnout, inertia, and meltdown, with additional exploration of shutdown. We also aimed to explore how these youth cope with these phenomena and what others around them do that make things better or worse, with a hope to glean knowledge to design better supports. Methods: One-to-one interviews were conducted with eight children and youth, who shared their experience with BIMS. To match individual communication strengths of children and youth, we took a flexible approach to interviews, allowing for augmentative communication systems and use of visual images to support verbal interviews, as needed. We conducted a reflexive, inductive thematic analysis, using an iterative process of coding, collating, reviewing, and mapping themes. Findings: Our analysis has identified that these youth describe BIMS as a multi-faceted experience involving emotional, cognitive and physical components. Moreover, these multifaceted experiences are often misunderstood by neurotypical adults, which contributes to inadequate support in managing BIMS. Of the four experiences, these youth identified meltdowns as most common. Conclusion: By gaining first-hand perspectives, we have identified novel insights into BIMS and developed a more holistic understanding of these phenomena. These youths’ descriptions of supportive strategies for BIMS stress the importance of compassion and collaboration from trusted adults. This new knowledge will provide a foundation for how to better support autistic children and youth. Further research is required to develop an understanding of BIMS, especially with respect to how it is experienced by children and youth. Future research should leverage the insights and experiential knowledge of autistic children and youth to co-design support tool(s) for BIMS.
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20. Romagnoli A, Di Marino D. The Use of Peptides in the Treatment of Fragile X Syndrome: Challenges and Opportunities. Frontiers in psychiatry. 2021; 12: 754485.
Fragile X Syndrome (FXS) is the most frequent cause of inherited intellectual disabilities and autism spectrum disorders, characterized by cognitive deficits and autistic behaviors. The silencing of the Fmr1 gene and consequent lack of FMRP protein, is the major contribution to FXS pathophysiology. FMRP is an RNA binding protein involved in the maturation and plasticity of synapses and its absence culminates in a range of morphological, synaptic and behavioral phenotypes. Currently, there are no approved medications for the treatment of FXS, with the approaches under study being fairly specific and unsatisfying in human trials. Here we propose peptides/peptidomimetics as candidates in the pharmacotherapy of FXS; in the last years this class of molecules has catalyzed the attention of pharmaceutical research, being highly selective and well-tolerated. Thanks to their ability to target protein-protein interactions (PPIs), they are already being tested for a wide range of diseases, including cancer, diabetes, inflammation, Alzheimer’s disease, but this approach has never been applied to FXS. As FXS is at the forefront of efforts to develop new drugs and approaches, we discuss opportunities, challenges and potential issues of peptides/peptidomimetics in FXS drug design and development.
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21. Vallés AS, Barrantes FJ. Dysregulation of Neuronal Nicotinic Acetylcholine Receptor-Cholesterol Crosstalk in Autism Spectrum Disorder. Frontiers in molecular neuroscience. 2021; 14: 744597.
Autism spectrum disorder (ASD) is a set of complex neurodevelopmental diseases that include impaired social interaction, delayed and disordered language, repetitive or stereotypic behavior, restricted range of interests, and altered sensory processing. The underlying causes of the core symptoms remain unclear, as are the factors that trigger their onset. Given the complexity and heterogeneity of the clinical phenotypes, a constellation of genetic, epigenetic, environmental, and immunological factors may be involved. The lack of appropriate biomarkers for the evaluation of neurodevelopmental disorders makes it difficult to assess the contribution of early alterations in neurochemical processes and neuroanatomical and neurodevelopmental factors to ASD. Abnormalities in the cholinergic system in various regions of the brain and cerebellum are observed in ASD, and recently altered cholesterol metabolism has been implicated at the initial stages of the disease. Given the multiple effects of the neutral lipid cholesterol on the paradigm rapid ligand-gated ion channel, the nicotinic acetylcholine receptor, we explore in this review the possibility that the dysregulation of nicotinic receptor-cholesterol crosstalk plays a role in some of the neurological alterations observed in ASD.
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22. Zhao Z, Zhang X, Tang H, Hu X, Qu X, Lu J, Peng Q. Restricted Kinematics in Children With Autism in the Execution of Complex Oscillatory Arm Movements. Frontiers in human neuroscience. 2021; 15: 708969.
Restricted and repetitive behavior is a core symptom of autism spectrum disorder (ASD) characterized by features of restrictedness, repetition, rigidity, and invariance. Few studies have investigated how restrictedness is manifested in motor behavior. This study aimed to address this question by instructing participants to perform the utmost complex movement. Twenty children with ASD and 23 children with typical development (TD) performed one-dimensional, left-right arm oscillations by demonstrating varying amplitudes and frequencies. The entropy of amplitude and velocity was calculated as an index of kinematic complexity. Results showed that the velocity entropy, but not the amplitude entropy, was significantly lower in ASD than in TD (p < 0.01), suggesting restricted kinematics. Further analysis demonstrated that a significantly higher proportion of the velocity values was allocated at a low-speed level in the children with ASD (p < 0.01). A qualitative comparison of the complex movement with movement at preferred frequency suggested that the children with ASD might be less likely to shift away from the preferred movement. However, our study can be improved in terms of recruiting a larger sample of participants, measuring the level of motivation, and collecting both complex and preferred movements of the same participant.