1. AlHumaid J, Gaffar B, AlYousef Y, Alshuraim F, Alhareky M, El Tantawi M. {{Oral Health of Children with Autism: The Influence of Parental Attitudes and Willingness in Providing Care}}. {TheScientificWorldJournal}. 2020; 2020: 8329426.
OBJECTIVES: Parents play a crucial role in health-related practices of children with autism spectrum disorder (ASD). This study assessed the association between oral health status and oral health practices of children with ASD in relation to their parental attitudes and comfort in providing oral care. METHODS: This cross-sectional study included 75 children with ASD attending the special needs schools in Eastern Saudi Arabia from 2015-2018. Parents responded to a self-administered questionnaire assessing their attitudes toward oral health and comfort in providing oral care for children. The clinical examination assessed dental caries (decayed, extracted, and filled: (DMF and def)), gingival disease, and plaque accumulation. The Pearson correlation coefficient was used to assess the relationship between the study variables, while ANOVA followed by post hoc was used to assess the differences. RESULTS: Prevalence of dental caries in primary teeth was 76% and 68% in the permanent dentition with a mean of 0.85 ± 1.9 and 1.03 ± 2.9, respectively. Thirty-one participants had gingival problems, mean gingival index was 1.03 ± 0.88, and mean plaque index was 0.95 ± 0.43. Half of the parents supervised their children’s brushing, which was significantly associated with plaque accumulation (p = 0.004), gingival disease (p < 0.0001), and def (p = 0.02). Parental attitudes and comfort in providing oral health care were not associated with oral health status of ASD children; however, positive parental attitudes were associated with lower sugar consumption (p = 0.043). An inverse correlation was observed between comfort in providing oral health care with gingival and plaque scores r = -0.18 and -0.23, respectively. CONCLUSIONS: The data are indicative of poor oral health practices and status among ASD children. Parents' oral health care practices seem to be reactive rather than proactive. Positive parental attitudes were associated with lower sugar consumption. Greater comfort in providing care was negatively correlated with plaque accumulation and gingival problems. Lien vers le texte intégral (Open Access ou abonnement)
2. Andoy Galvan JA, Ramalingam PN, Patil SS, Bin Shobri MAS, Chinna K, Sahrir MS, Chidambaram K. {{Mode of delivery, order of birth, parental age gap and autism spectrum disorder among Malaysian children: A case-control study}}. {Heliyon}. 2020; 6(10): e05068.
Rising prevalence of autism spectrum disorders (ASD) in the last decades has led research to focus on the diagnosis and identification of factors associated with ASD. This paper sought for possible factors that put children at risk for ASD. In this study, we investigated the association between ASD and parental ages, parental age gaps, birth order and birth delivery method in Malaysian population. In this school-based case control study, 465 children with ASD 464 controls participated. Questionnaires were distributed to the parents of the selected children through the respective principals. Among the tested variables, Caesarean section (OR = 1.63, 95% CI 1.20, 2.20), earlier order of birth in the family (OR = 0.68, 95% CI 0.59, 0.77) and increasing gap in parental ages (OR = 1.04, 95% CI 1.001, 1.07) were significantly associated with ASD. This study concludes that Caesarean section, earlier order of birth in the family and increasing gap in parental age are independent risk factors for developing autism among Malaysian children.
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3. Arsenault J, Hooper AWM, Gholizadeh S, Kong T, Pacey LK, Koxhioni E, Niibori Y, Eubanks JH, Wang LY, Hampson DR. {{Interregulation between Fragile X Mental Retardation Protein and Methyl CpG Binding Protein 2 in the Mouse Posterior Cerebral Cortex}}. {Hum Mol Genet}. 2020.
Several X-linked neurodevelopmental disorders including Rett Syndrome, induced by mutations in the MECP2 gene, and Fragile X Syndrome (FXS), caused by mutations in the FMR1 gene, share autism-related features. The mRNA coding for Methyl CpG binding protein 2 (MeCP2) has previously been identified as a substrate for the mRNA-binding protein Fragile X Mental Retardation Protein (FMRP), which is silenced in FXS. Here, we report a homeostatic relationship between these two key regulators of gene expression in mouse models of FXS (Fmr1 KO) and Rett syndrome (MeCP2 KO). We found that the level of MeCP2 protein in the cerebral cortex was elevated in Fmr1 KO mice, whereas MeCP2 KO mice displayed reduced levels of FMRP, implicating interplay between the activities of MeCP2 and FMRP. Indeed, knockdown of MeCP2 with short hairpin RNAs led to a reduction of FMRP in mouse Neuro2A and in human HEK-293 cells, suggesting a reciprocal coupling in the expression level of these two regulatory proteins. Intra-cerebroventricular injection of an adeno-associated viral vector coding for FMRP (AAV-FMRP) led to a concomitant reduction in MeCP2 expression in vivo, and partially corrected locomotor hyperactivity. Additionally, the level of MeCP2 in the posterior cortex correlated with the severity of the hyperactive phenotype in Fmr1 KO mice. These results demonstrate that MeCP2 and FMRP operate within a previously undefined homeostatic relationship. Our findings also suggest that MeCP2 overexpression in Fmr1 KO mouse posterior cerebral cortex may contribute to the fragile X locomotor hyperactivity phenotype.
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4. Chezan LC, McCammon MN, Drasgow E, Wolfe K. {{The Ecological Validity of Research Studies on Function-Based Interventions in Schools for Children With Autism Spectrum Disorder}}. {Behav Modif}. 2020: 145445520964921.
Our main purpose in this review was to determine the extent to which ecological validity was demonstrated and assessed in single-case experimental design (SCED) studies examining the effectiveness of function-based interventions (FBIs) for children with autism spectrum disorder (ASD) within schools. We reviewed 55 SCED studies published between 1985 and 2019 to identify indicators of ecological validity and the instruments used to assess it. We also conducted an analysis to determine the extent to which implementation procedures were described. Results indicated that approximately half of the assessments and FBIs were conducted by teachers in classrooms. Approximately 50% of the assessments and FBIs were implemented within the context of isolated sessions and required multiple implementers. Ecological validity was assessed in seven of the studies reviewed. A complete description of implementation procedures was provided for approximately half of the assessments and FBIs. Limitations of the present review and future directions for research are discussed.
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5. Cogram P, Alkon DL, Crockford D, Deacon RMJ, Hurley MJ, Altimiras F, Sun MK, Tranfaglia M. {{Chronic bryostatin-1 rescues autistic and cognitive phenotypes in the fragile X mice}}. {Sci Rep}. 2020; 10(1): 18058.
Fragile X syndrome (FXS), an X-chromosome linked intellectual disability, is the leading monogenetic cause of autism spectrum disorder (ASD), a neurodevelopmental condition that currently has no specific drug treatment. Building upon the demonstrated therapeutic effects on spatial memory of bryostatin-1, a relatively specific activator of protein kinase C (PKC)ε, (also of PKCα) on impaired synaptic plasticity/maturation and spatial learning and memory in FXS mice, we investigated whether bryostatin-1 might affect the autistic phenotypes and other behaviors, including open field activity, activities of daily living (nesting and marble burying), at the effective therapeutic dose for spatial memory deficits. Further evaluation included other non-spatial learning and memory tasks. Interestingly, a short period of treatment (5 weeks) only produced very limited or no therapeutic effects on the autistic and cognitive phenotypes in the Fmr1 KO2 mice, while a longer treatment (13 weeks) with the same dose of bryostatin-1 effectively rescued the autistic and non-spatial learning deficit cognitive phenotypes. It is possible that longer-term treatment would result in further improvement in these fragile X phenotypes. This effect is clearly different from other treatment strategies tested to date, in that the drug shows little acute effect, but strong long-term effects. It also shows no evidence of tolerance, which has been a problem with other drug classes (mGluR5 antagonists, GABA-A and -B agonists). The results strongly suggest that, at appropriate dosing and therapeutic period, chronic bryostatin-1 may have great therapeutic value for both ASD and FXS.
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6. Dunlap JJ, Filipek PA. {{Autism Spectrum Disorder: The Nurse’s Role}}. {The American journal of nursing}. 2020.
Autism spectrum disorder (ASD) is the most common and fastest-growing developmental disability in the United States, affecting approximately one in 54 children nationwide. Early intervention for ASD produces the best outcomes-and developmental surveillance and screening are prerequisites to intervention. Although screening has been strongly recommended for two decades, the majority of U.S. children are not screened for ASD. Here, the authors discuss ASD epidemiology, screening, and diagnosis, as well as appropriate early actions nurses can take when ASD is suspected.
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7. Eggebrecht AT, Dworetsky A, Hawks Z, Coalson R, Adeyemo B, Davis S, Gray D, McMichael A, Petersen SE, Constantino JN, Pruett JR, Jr. {{Brain function distinguishes female carriers and non-carriers of familial risk for autism}}. {Mol Autism}. 2020; 11(1): 82.
BACKGROUND: Autism spectrum disorder (ASD) is characterized by high population-level heritability and a three-to-one male-to-female ratio that occurs independent of sex linkage. Prior research in a mixed-sex pediatric sample identified neural signatures of familial risk elicited by passive viewing of point light motion displays, suggesting the possibility that both resilience and risk of autism might be associated with brain responses to biological motion. To confirm a relationship between these signatures and inherited risk of autism, we tested them in families enriched for genetic loading through undiagnosed (« carrier ») females. METHODS: Using functional magnetic resonance imaging, we examined brain responses to passive viewing of point light displays-depicting biological versus non-biological motion-in a sample of undiagnosed adult females enriched for inherited susceptibility to ASD on the basis of affectation in their respective family pedigrees. Brain responses in carrier females were compared to responses in age-, SRS-, and IQ-matched non-carrier-females-i.e., females unrelated to individuals with ASD. We conducted a hypothesis-driven analysis focused on previously published regions of interest as well as exploratory, brain-wide analyses designed to characterize more fully the rich responses to this paradigm. RESULTS: We observed robust responses to biological motion. Notwithstanding, the 12 regions implicated by prior research did not exhibit the hypothesized interaction between group (carriers vs. controls) and point light displays (biological vs. non-biological motion). Exploratory, brain-wide analyses identified this interaction in three novel regions. Post hoc analyses additionally revealed significant variations in the time course of brain activation in 20 regions spanning occipital and temporal cortex, indicating group differences in response to point light displays (irrespective of the nature of motion) for exploration in future studies. LIMITATIONS: We were unable to successfully eye-track all participants, which prevented us from being able to control for potential differences in eye gaze position. CONCLUSIONS: These methods confirmed pronounced neural signatures that differentiate brain responses to biological and scrambled motion. Our sample of undiagnosed females enriched for family genetic loading enabled discovery of numerous contrasts between carriers and non-carriers of risk of ASD that may index variations in visual attention and motion processing related to genetic susceptibility and inform our understanding of mechanisms incurred by inherited liability for ASD.
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8. Gordon-Lipkin E, Hoon A, Pardo CA. {{Prenatal cytomegalovirus, rubella, and Zika virus infections associated with developmental disabilities: past, present, and future}}. {Dev Med Child Neurol}. 2020.
Prenatal infections have long been recognized as important, preventable causes of developmental disabilities. The list of pathogens that are recognized to have deleterious effects on fetal brain development continues to grow, most recently with the association between Zika virus (ZIKV) and microcephaly. To answer clinical questions in real time about the impact of a novel infection on developmental disabilities, an historical framework is key. The lessons learned from three historically important pathogens: rubella, cytomegalovirus, and ZIKV, and how these lessons are useful to approach emerging congenital infections are discussed in this review. Congenital infections are preventable causes of developmental disabilities and several public health approaches may be used to prevent prenatal infection. When they cannot be prevented, the sequelae of prenatal infection may be treatable.
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9. Hudry K, Chetcuti L, Boutrus M, Pillar S, Baker EK, Dimov S, Barbaro J, Green J, Whitehouse AJ, Varcin KJ. {{Performance of the Autism Observation Scale for Infants with community-ascertained infants showing early signs of autism}}. {Autism}. 2020: 1362361320965397.
We investigated whether a commonly used research assessment – the Autism Observation Scale for Infants (AOSI) – accurately measures autism behaviours among infants showing early signs of autism identified within the community. The AOSI is often included in studies tracking the development of infants at increased likelihood of autism, such as the infant siblings of diagnosed children. However, the suitability of this measure has not previously been tested with community-referred infants. We administered the AOSI with infants when aged 9 to 14 months and again 6 months later. Our researchers – independent of the AOSI development team and newly trained on this measure – were able to administer the brief interactive assessment and score it accurately. The infants’ AOSI scores were linked to their scores on other established and validated clinical assessments, particularly at the second visit when average age was 18 months. Stronger correspondence of AOSI and other scores at this second visit suggests early autism behaviours are better established and more consistent by 18 months of age, even though these infants showed clear enough signs of possible autism to prompt referral to our study around 12 months of age. However, the moderate association of AOSI scores over time suggests that, like infant siblings – who mostly do not develop autism – community-identified infants showing early signs may also have variable developmental pathways in early life.
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10. Kasahara Y, Yoshida C, Nakanishi K, Fukase M, Suzuki A, Kimura Y. {{Alterations in the autonomic nerve activities of prenatal autism model mice treated with valproic acid at different developmental stages}}. {Sci Rep}. 2020; 10(1): 17722.
Autism spectrum disorder (ASD) is characterized by impairment of social communication, repetitive behavior and restrictive interest. The risk of ASD is strongly associated with the prenatal period; for instance, the administration of valproic acid (VPA) to pregnant mothers increases risk of ASD in the child. Patients with ASD often exhibit an alteration in the autonomic nervous system. In this study, we assessed the autonomic nervous activity at each prenatal developmental stage of model mice of ASD treated with VPA, to clarify the relationship between timing of exposure and ASD symptoms. The assessment of the autonomic nervous activity was performed based on the analysis of electrocardiography data collected from fetal and adult mice. Interestingly, VPA model mouse fetuses exhibited a significantly lower activity of the sympathetic nervous system. In contrast, sympathetic nervous activity at P0 was significantly higher. In adult VPA model mice, the parasympathetic activity of female VPA mice was suppressed. Moreover, female VPA mice showed reduced the parasympathetic activity after exposure to restraint stress. These results suggest that the autonomic nervous activity of VPA model mice was altered from the fetal stage, and that the assessment of autonomic nervous activities at an early developmental stage could be useful for the understanding of ASD.
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11. Kheirouri S, Alizadeh M. {{Maternal excessive gestational weight gain as a risk factor for autism spectrum disorder in offspring: a systematic review}}. {BMC pregnancy and childbirth}. 2020; 20(1): 645.
BACKGROUND: Abnormal gestational weight gain (GWG) is a prenatal complication that may contribute to long-term behavioral and neurodevelopmental differences in offspring. This systematic review summarizes research on the association between maternal GWG and risk of autism spectrum disorder (ASD) in offspring. METHODS: Google and electronic databases, including PubMed, SCOPUS, Embase, Cochrane Library and Google Scholar, were searched for original human studies published in English through June 2020. Articles that examined the association between GWG and risk of ASD in offspring were included. Duplicate and irrelevant studies were removed; and data were obtained through critical analysis. RESULTS: Of 96 articles searched, eight studies were included in the final review. All studies (n = 7) investigating the association of maternal excessive GWG with risk of ASD in offspring indicated that high GWG was independently associated with an increased risk of ASD. Of five studies investigating the association of inadequate GWG with the risk of ASD, four indicated that low GWG was not associated with an increased risk of ASD. Of seven studies examining the association of maternal pre-pregnancy BMI or weight with the risk of ASD, five reported that maternal pre-pregnancy BMI or weight did not appear to be independently associated with risk of ASD. The GWG-ASD association is independent of maternal BMI and child’s intellectual disability, but offspring’s genetic susceptibility connection to the GWG-ASD association remains a topic of debate. CONCLUSIONS: The findings suggest that maternal excessive GWG may be associated with increased risk of ASD in offspring. However, insufficient GWG does not appear to have such association.
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12. Li D, Choque-Olsson N, Jiao H, Norgren N, Jonsson U, Bölte S, Tammimies K. {{The influence of common polygenic risk and gene sets on social skills group training response in autism spectrum disorder}}. {NPJ genomic medicine}. 2020; 5: 45.
Social skills group training (SSGT) is a frequently used behavioral intervention in autism spectrum disorder (ASD), but the effects are moderate and heterogeneous. Here, we analyzed the effect of polygenic risk score (PRS) and common variants in gene sets on the intervention outcome. Participants from the largest randomized clinical trial of SSGT in ASD to date were selected (N = 188, 99 from SSGT, 89 from standard care) to calculate association between the outcomes in the SSGT trial and PRSs for ASD, attention-deficit hyperactivity disorder (ADHD), and educational attainment. In addition, specific gene sets were selected to evaluate their role on intervention outcomes. Among all participants in the trial, higher PRS for ADHD was associated with significant improvement in the outcome measure, the parental-rated Social Responsiveness Scale. The significant association was due to better outcomes in the standard care group for individuals with higher PRS for ADHD (post-intervention: β = -4.747, P = 0.0129; follow-up: β = -5.309, P = 0.0083). However, when contrasting the SSGT and standard care group, an inferior outcome in the SSGT group was associated with higher ADHD PRS at follow-up (β = 6.67, P = 0.016). Five gene sets within the synaptic category showed a nominal association with reduced response to interventions. We provide preliminary evidence that genetic liability calculated from common variants could influence the intervention outcomes. In the future, larger cohorts should be used to investigate how genetic contribution affects individual response to ASD interventions.
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13. Li X, Dvornek NC, Zhuang J, Ventola P, Duncan J. {{Graph Embedding Using Infomax for ASD Classification and Brain Functional Difference Detection}}. {Proceedings of SPIE–the International Society for Optical Engineering}. 2020; 11317.
Significant progress has been made using fMRI to characterize the brain changes that occur in ASD, a complex neuro-developmental disorder. However, due to the high dimensionality and low signal-to-noise ratio of fMRI, embedding informative and robust brain regional fMRI representations for both graph-level classification and region-level functional difference detection tasks between ASD and healthy control (HC) groups is difficult. Here, we model the whole brain fMRI as a graph, which preserves geometrical and temporal information and use a Graph Neural Network (GNN) to learn from the graph-structured fMRI data. We investigate the potential of including mutual information (MI) loss (Infomax), which is an unsupervised term encouraging large MI of each nodal representation and its corresponding graph-level summarized representation to learn a better graph embedding. Specifically, this work developed a pipeline including a GNN encoder, a classifier and a discriminator, which forces the encoded nodal representations to both benefit classification and reveal the common nodal patterns in a graph. We simultaneously optimize graph-level classification loss and Infomax. We demonstrated that Infomax graph embedding improves classification performance as a regularization term. Furthermore, we found separable nodal representations of ASD and HC groups in prefrontal cortex, cingulate cortex, visual regions, and other social, emotional and execution related brain regions. In contrast with GNN with classification loss only, the proposed pipeline can facilitate training more robust ASD classification models. Moreover, the separable nodal representations can detect the functional differences between the two groups and contribute to revealing new ASD biomarkers.
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14. Lin SW, Chiu TY, Liou TH, Yen CF, Chen HG. {{The Relationship of Urbanization and Performance of Activity and Participation Functioning among Adults with Developmental Disabilities in Taiwan}}. {Int J Environ Res Public Health}. 2020; 17(20).
Developmental disability is likely to be lifelong in nature and to result in substantial activity and societal participation limitations. The performance of individuals is related to the environment, supports, and urbanization of living cities. Most of the surveys for people with disabilities have not discussed the relationship between the cognitive impairment properties and performance of participation and activities functioning, and most cognitive impairments are regarded as having similar performance. The location of residence in childhood is mainly influenced by parents and main caregivers, but the factors related to the preferences of adults with cognitive impairment in the location of residence are more complicated. OBJECTIVE(S): The aim was to explore and compare the relationships of the urbanization degree of their living cities and the functioning performance of daily living in various domains among adults with intellectual disability (ID), autism, and concomitant communicative impairment (CCI). METHOD: The cross-sectional study was applied, and the data was collected face-to-face by professionals in all authorized hospitals in Taiwan. The participants were 5374 adults with ID (n = 4455), autism (n = 670), CCI (n = 110) and combination disabilities (n = 139) which were according to the International Statistical Classification of Diseases 9th Revision (ICD-9) from a total of 167,069 adults with disabilities from the Disability Eligibility System (DES) in Taiwan between July 2012 and October 2013. The authors used the World Health Organization Disability Assessment Schedule 2.0-36 item version of WHO (WHODAS 2.0-36 items) to measure performance and capability of daily living. RESULTS AND CONCLUSIONS: There were significant differences in age, gender, disabled severity, and the urbanization between all subgroups (p < 0.05). After adjusting the age of all participators, the degree of urbanization just significantly affected the functioning score distribution in domain 1: cognition for an adult with ID, autism, and CCI; in domain 2, mobility for an adult with CCI and combination disability; in domain 3, self-care; domain 4, independent domains for ID (p < 0.05). There were no significant differences between urbanization degree and functioning scores in all domains for adults with autism. All in all, only in groups with combination disability did we find that the worse the degree of impairment was, the lower the degree of urbanization of their place of residence was, and there was no such phenomenon in adults with autism and ID in our study. Lien vers le texte intégral (Open Access ou abonnement)
15. Liu X, Bautista J, Liu E, Zikopoulos B. {{Imbalance of laminar-specific excitatory and inhibitory circuits of the orbitofrontal cortex in autism}}. {Mol Autism}. 2020; 11(1): 83.
BACKGROUND: The human orbitofrontal cortex (OFC) is involved in assessing the emotional significance of events and stimuli, emotion-based learning, allocation of attentional resources, and social cognition. Little is known about the structure, connectivity and excitatory/inhibitory circuit interactions underlying these diverse functions in human OFC, as well as how the circuit is disrupted in individuals with autism spectrum disorder (ASD). METHODS: We used post-mortem brain tissue from neurotypical adults and individuals with ASD. We examined the morphology and distribution of myelinated axons across cortical layers in OFC, at the single axon level, as a proxy of excitatory pathways. In the same regions, we also examined the laminar distribution of all neurons and neurochemically- and functionally-distinct inhibitory neurons that express the calcium-binding proteins parvalbumin (PV), calbindin (CB), and calretinin (CR). RESULTS: We found that the density of myelinated axons increased consistently towards layer 6, while the average axon diameter did not change significantly across layers in both groups. However, both the density and diameter of myelinated axons were significantly lower in the ASD group compared with the Control group. The distribution pattern and density of the three major types of inhibitory neurons was comparable between groups, but there was a significant reduction in the density of excitatory neurons across OFC layers in ASD. LIMITATIONS: This study is limited by the availability of human post-mortem tissue optimally processed for high-resolution microscopy and immunolabeling, especially from individuals with ASD. CONCLUSIONS: The balance between excitation and inhibition in OFC is at the core of its function, assessing and integrating emotional and social cues with internal states and external inputs. Our preliminary results provide evidence for laminar-specific changes in the ratio of excitation/inhibition in OFC of adults with ASD, with an overall weakening and likely disorganization of excitatory signals and a relative strengthening of local inhibition. These changes likely underlie pathology of major OFC communications with limbic or other cortices and the amygdala in individuals with ASD, and may provide the anatomic basis for disrupted transmission of signals for social interactions and emotions in autism.
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16. Manning J, Billian J, Matson J, Allen C, Soares N. {{Perceptions of Families of Individuals with Autism Spectrum Disorder during the COVID-19 Crisis}}. {J Autism Dev Disord}. 2020: 1-9.
Caring for an individual with autism spectrum disorder (ASD) in ideal circumstances can be stressful, and the Coronavirus disease (COVID-19) pandemic created a high degree of disruption to life and stress to families living with an individual with ASD. We conducted an online survey of families in Michigan that revealed higher levels of stress in caregivers of younger individuals with ASD and those with greater severity of ASD symptoms. Stress around therapeutic service disruption, finances, and illness predominated and greater stress was reported for caregivers of individuals receiving greater intensity of services pre-COVID-19. Respondents voiced concerns about receiving respite care during COVID-19, and those expressing interest in respite also reported greater symptom severity in the person with ASD.
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17. Masi G, Scullin S, Narzisi A, Muratori P, Paciello M, Fabiani D, Lenzi F, Mucci M, D’Acunto G. {{Suicidal Ideation and Suicidal Attempts in Referred Adolescents with High Functioning Autism Spectrum Disorder and Comorbid Bipolar Disorder: A Pilot Study}}. {Brain Sci}. 2020; 10(10).
Suicidal ideation and attempts in adolescents are closely associated to bipolar disorders (BD). Growing evidence also suggests that high functioning autism spectrum disorders (HF-ASD) are at increased risk for suicidal ideation and behaviors. Although BD and HF-ASD are frequently comorbid, no studies explored suicidality in these individuals. This exploratory study addressed this issue in a clinical group of inpatient adolescents referred to a psychiatric emergency unit. Seventeen adolescents with BD and HF-ASD and severe suicidal ideation or attempts (BD-ASD-S), were compared to 17 adolescents with BD and HF-ASD without suicidal ideation or attempts (BD-ASD-noS), and to 18 adolescents with BD and suicidal ideation or attempts without ASD (BD-noASD-S), using a structured assessment methodology. Individuals with BD-ASD-S had a higher intelligence quotient, more severe clinical impairment, more lethality in suicide attempts, more internalizing symptoms, less impulsiveness, and lower social competence. Severity of ASD traits in individuals and parents did not correlate with suicidal risk. Some dimensions of resilience were protective in terms of repulsion by life and attraction to death. Main limitations are the small sample size, the lack of a control group of typically developing adolescents. However, a better understanding of the specificities of bipolar HF-ASD individuals with suicidality may improve prevention and treatment strategies.
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18. Minio-Paluello I, Porciello G, Pascual-Leone A, Baron-Cohen S. {{Face individual identity recognition: a potential endophenotype in autism}}. {Mol Autism}. 2020; 11(1): 81.
BACKGROUND: Face individual identity recognition skill is heritable and independent of intellectual ability. Difficulties in face individual identity recognition are present in autistic individuals and their family members and are possibly linked to oxytocin polymorphisms in families with an autistic child. While it is reported that developmental prosopagnosia (i.e., impaired face identity recognition) occurs in 2-3% of the general population, no prosopagnosia prevalence estimate is available for autism. Furthermore, an autism within-group approach has not been reported towards characterizing impaired face memory and to investigate its possible links to social and communication difficulties. METHODS: The present study estimated the prevalence of prosopagnosia in 80 autistic adults with no intellectual disability, investigated its cognitive characteristics and links to autism symptoms’ severity, personality traits, and mental state understanding from the eye region by using standardized tests and questionnaires. RESULTS: More than one third of autistic participants showed prosopagnosia. Their face memory skill was not associated with their symptom’s severity, empathy, alexithymia, or general intelligence. Face identity recognition was instead linked to mental state recognition from the eye region only in autistic individuals who had prosopagnosia, and this relationship did not depend on participants’ basic face perception skills. Importantly, we found that autistic participants were not aware of their face memory skills. LIMITATIONS: We did not test an epidemiological sample, and additional work is necessary to establish whether these results generalize to the entire autism spectrum. CONCLUSIONS: Impaired face individual identity recognition meets the criteria to be a potential endophenotype in autism. In the future, testing for face memory could be used to stratify autistic individuals into genetically meaningful subgroups and be translatable to autism animal models.
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19. Mitroulaki S, Serdari A, Tripsianis G, Gundelfinger R, Arvaniti A, Vorvolakos T, Samakouri M. {{First Alarm and Time of Diagnosis in Autism Spectrum Disorders}}. {Comprehensive child and adolescent nursing}. 2020: 1-17.
Early diagnosis of autism spectrum disorder (ASD) is of paramount importance as it opens the road to early intervention, which is associated with better prognosis. However, early diagnosis is often delayed until preschool or school age. The purpose of the current retrospective study was to explore the age of recognition of first alarming symptoms in boys and girls as well as the age at diagnosis of different subtypes of ASD in a small sample. A total of 128 parents’ of children with ASDs were participated in the survey by completing a self-report questionnaire about early signs and symptoms that raised their concern. Parents of children with autism voiced concerns earlier and obtained diagnosis significantly earlier compared to parents of children with Asperger syndrome (p value <0.000). No significant difference (p value<0.05) has been detected between males and females in early manifestation of first signs and symptoms of ASD. The mean age at diagnosis was 3.8 years for autistic disorder, 6.2 years for children with Asperger syndrome and 6.4 years for other, e.g., PDD-NOS. The most commonly reported symptoms were speech and language problems (p value = 0.001) for children who were later diagnosed with autism, while behavior problems (p value = 0.046) as well as difficulties in education at school (p value = 0.013) for children with Asperger syndrome. The gap between early identification and diagnosis pinpoints the urgent need for national systematic early screening, the development of reliable and sensitive diagnostic instruments for infants and toddlers and heightened awareness of early signs of ASD among parents, teachers, and healthcare professionals and providers as well. Lien vers le texte intégral (Open Access ou abonnement)
20. Ong N, Goff R, Eapen V, Tomsic G, Moore L, Garg P, Campbell D, Waters K, Castro C, Silove N. {{Motivation for change in the health care of children with developmental disabilities: Pilot continuing professional development-quality improvement project}}. {Journal of paediatrics and child health}. 2020.
AIM: People with developmental disabilities (DDs) experience significant barriers accessing and receiving optimal health care resulting in poorer health-care outcomes. Continuing professional development (CPD) represents an effective means to alter health-care staff behaviour to improve the care of people with DDs. However, given the scepticism regarding the effectiveness of certain CPD models’ ability to alter learner’s workplace behaviour, the current pilot study developed and determined the feasibility of a novel CPD programme aimed at improving the health care provided to children with DDs. METHODS: Motivation for Change (MFC) is a novel CPD programme based on empirically based behaviour and educational strategies including motivational interviewing, flipped classroom and process mapping. It utilises input of patients, practitioners, and family members during administration of the programme. MFC was administered with 14 staff members in a Sydney Children’s Hospital Sleep service. RESULTS: After MFC engagement, staff reported significant improvements in their knowledge of behavioural characteristics of children with DDs, the difficulties they face, how best to support them within the learner’s work setting and confidence in working with children with DDs. There was a non-significant decline in their reported need for further training and expressed high level of satisfaction with the MFC programme. CONCLUSION: MFC represents a feasible means of providing CPD to health-care staff but further research is needed to determine objective clinical behavioural change. Evaluation of the impact on patient health outcomes, parent/child satisfaction, staff sustainability and overall system functioning is also needed. It may represent an effective model of CPD for other targets of health-care improvement.
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21. Portnova GV, Maslennikova AV. {{Atypical EEG Responses to Nonverbal Emotionally Charged Stimuli in Children with ASD}}. {Behavioural neurology}. 2020; 2020: 2807946.
This study focused on auditory emotional perception in children with low-functioning autism and investigated the children’s response to emotionally charged nonverbal sounds which regularly induced emotional response in typically developing (TD) peers. An EEG was conducted, and emotional reactions were assessed using analog scales and images of presented sounds with additional images during the presentation of emotional stimuli. The results showed that EEG and emotional responses to the fearful sounds were similar in TD children and children with autism spectrum disorders (ASD). Both groups of children showed an increase in peak alpha frequency and power of alpha2-band and a decrease in low-frequency bands. Sounds of crying and laughter induced an atypical EEG response in children with ASD, with no change in alpha-band’s power and frequency observed in them; this was contrary to the observation in TD children. The decrease in the fractal dimension detected in children with ASD only for sounds of crying and laughter correlated with the accuracy of assessment of these stimuli.
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22. Quaas AM, Kearns WG. {{Antenatal antioxidants to avert autism?}}. {Journal of assisted reproduction and genetics}. 2020.
Paternally derived de novo mutations (DNMs) caused by oxidative stress (OS) have been implicated in the development of autism spectrum disorders (ASDs). Whether preconception antioxidant supplementation can reduce the incidence of ASDs by reducing OS is an area of uncertainty and potentially important future scientific investigation.
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23. Rahman MR, Petralia MC, Ciurleo R, Bramanti A, Fagone P, Shahjaman M, Wu L, Sun Y, Turanli B, Arga KY, Islam MR, Islam T, Nicoletti F. {{Comprehensive Analysis of RNA-Seq Gene Expression Profiling of Brain Transcriptomes Reveals Novel Genes, Regulators, and Pathways in Autism Spectrum Disorder}}. {Brain Sci}. 2020; 10(10).
BACKGROUND: Autism spectrum disorder (ASD) is a neurodevelopmental disorder with deficits in social communication ability and repetitive behavior. The pathophysiological events involved in the brain of this complex disease are still unclear. METHODS: In this study, we aimed to profile the gene expression signatures of brain cortex of ASD patients, by using two publicly available RNA-seq studies, in order to discover new ASD-related genes. RESULTS: We detected 1567 differentially expressed genes (DEGs) by meta-analysis, where 1194 were upregulated and 373 were downregulated genes. Several ASD-related genes previously reported were also identified. Our meta-analysis identified 235 new DEGs that were not detected using the individual RNA-seq studies used. Some of those genes, including seven DEGs (PAK1, DNAH17, DOCK8, DAPP1, PCDHAC2, and ERBIN, SLC7A7), have been confirmed in previous reports to be associated with ASD. Gene Ontology (GO) and pathways analysis showed several molecular pathways enriched by the DEGs, namely, osteoclast differentiation, TNF signaling pathway, complement and coagulation cascade. Topological analysis of protein-protein interaction of the ASD brain cortex revealed proteomics hub gene signatures: MYC, TP53, HDAC1, CDK2, BAG3, CDKN1A, GABARAPL1, EZH2, VIM, and TRAF1. We also identified the transcriptional factors (TFs) regulating DEGs, namely, FOXC1, GATA2, YY1, FOXL1, USF2, NFIC, NFKB1, E2F1, TFAP2A, HINFP. CONCLUSION: Novel core genes and molecular signatures involved with ASD were identified by our meta-analysis.
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24. Rochat MJ, Distefano G, Maffei M, Toni F, Posar A, Scaduto MC, Resca F, Cameli C, Bacchelli E, Maestrini E, Visconti P. {{Brain Magnetic Resonance Findings in 117 Children with Autism Spectrum Disorder under 5 Years Old}}. {Brain Sci}. 2020; 10(10).
We examined the potential benefits of neuroimaging measurements across the first 5 years of life in detecting early comorbid or etiological signs of autism spectrum disorder (ASD). In particular, we analyzed the prevalence of neuroradiologic findings in routine magnetic resonance imaging (MRI) scans of a group of 117 ASD children younger than 5 years old. These data were compared to those reported in typically developing (TD) children. MRI findings in children with ASD were analyzed in relation to their cognitive level, severity of autistic symptoms, and the presence of electroencephalogram (EEG) abnormalities. The MRI was rated abnormal in 55% of children with ASD with a significant prevalence in the high-functioning subgroup compared to TD children. We report significant incidental findings of mega cisterna magna, ventricular anomalies and abnormal white matter signal intensity in ASD without significant associations between these MRI findings and EEG features. Based on these results we discuss the role that brain MRI may play in the diagnostic procedure of ASD.
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25. Snyder J, Turner L. {{Crowdfunding, stem cell interventions and autism spectrum disorder: comparing campaigns related to an international « stem cell clinic » and US academic medical center}}. {Cytotherapy}. 2020.
BACKGROUND AIMS: Studies examining crowdfunding campaigns for stem cell interventions have typically focused on campaigns seeking funds to send individuals to businesses marketing unlicensed and unproven stem cell products. However, some crowdfunding campaigns identify academic medical centers as destinations for individuals seeking access to stem cell products provided either in clinical studies or on an expanded access basis. This study examines crowdfunding campaigns seeking funds to enable children diagnosed with autism spectrum disorder access to stem cell interventions. METHODS: This study compares and contrasts crowdfunding campaigns, identifying an international stem cell clinic marketing a purported umbilical cord blood-derived stem cell treatment for autism spectrum disorder, with campaigns soliciting donations intended to help children with autism spectrum disorder either participate in clinical studies or obtain expanded access to stem cell products provided at an academic medical center in the US. RESULTS: Campaigns connected to both sites contained inaccurate claims. However, campaigns identifying the international clinic as the intended destination site made stronger claims about efficacy and were more reliant upon testimonials than campaigns listing the US-based academic medical center as the planned clinical site. Acknowledging these important distinctions, clinical studies and press releases associated with the academic medical center played an important role in lending the perception of credibility to the putative stem cell treatments marketed by the international clinic. CONCLUSIONS: The study’s findings emphasize how important it is for researchers at academic medical centers and comparable research facilities to avoid engaging in stem cell hyperbole; highlight the preliminary nature of early clinical studies; ensure that any claims about safety and efficacy are based upon robust and reliable evidence; and promote responsible science communication by exercising restraint when crafting press releases, conducting media interviews and otherwise publicizing clinical research findings.
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26. Suen CG, Campbell K, Stoddard G, Carbone PS. {{Patient-Centered Outcomes in an Interdisciplinary Clinic for Complex Children with Autism}}. {J Dev Behav Pediatr}. 2020.
OBJECTIVE: To compare the perspectives of caregivers of children with autism receiving care at the Neurobehavior Healthy Outcomes Medical Excellence (HOME) Program, an interdisciplinary clinic that provides primary care and behavioral/mental health services for patients with autism and other developmental disabilities, with those responding to the 2016 National Survey of Children’s Health (NSCH). We focused on ratings related to shared decision-making, care coordination, family-centered care, and care within a medical home. METHODS: We administered a subset of items from the 2016 NSCH to caregivers of children with autism enrolled in HOME and compared responses with the same items from a nationally representative group of caregivers of children with autism who completed the 2016 NSCH. We compared the proportions that reported receiving shared decision-making, care coordination, family-centered care, care within a medical home, and unmet needs among the 2 study groups using Poisson regression, controlling for age, sex, race/ethnicity, payor, autism severity, and intellectual disability (ID). RESULTS: Compared with the NSCH cohort (n = 1151), children enrolled in HOME (n = 129) were older, more often female, had severe autism, and had co-occurring ID. Caregivers perceived that children receiving care within HOME more often received family-centered, coordinated care within a medical home compared with a national sample of children with autism. HOME enrollees also reported increased access to behavioral treatments and adult transition services with less financial burden compared with the national sample. CONCLUSION: An interdisciplinary clinic model may best serve children with autism, especially those with higher severity symptoms and co-occurring conditions.
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27. Tiwari A, Rahi S, Mehan S. {{Elucidation of Abnormal Extracellular Regulated Kinase (ERK) Signaling and Associations with Syndromic and Non-syndromic Autism}}. {Current drug targets}. 2020.
Autism is a highly inherited and extremely complex disorder in which results from various cases indicate chro-mosome anomalies, unusual single-gene mutations, and multiplicative effects of particular gene variants, characterized pri-marily by impaired speech and social interaction and restricted behavior. The precise etiology of Autism Spectrum Disorder (ASD) is currently unclear. The extracellular signal-regulated kinase (ERK) signaling mechanism affects neurogenesis and neuronal plasticity during the development of the central nervous mechanism. In this regard, the pathway of ERK has re-cently gained significant interest in the pathogenesis of ASD. The mutation occurs in a few ERK components. Besides, the ERK pathway dysfunction lies in the upstream of modified translation and contributes to synapse pathology in syndromic types of autism. In this review, we highlight the ERK pathway as a target for neurodevelopmental disorder autism. In addi-tion, we summarize the regulation of the ERK pathway with ERK inhibitors in neurological disorders. In conclusion, a better understanding of the ERK signaling pathway provides a range of therapeutic options for autism spectrum disorder.
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28. Troisi J, Autio R, Beopoulos T, Bravaccio C, Carraturo F, Corrivetti G, Cunningham S, Devane S, Fallin D, Fetissov S, Gea M, Giorgi A, Iris F, Joshi L, Kadzielski S, Kraneveld A, Kumar H, Ladd-Acosta C, Leader G, Mannion A, Maximin E, Mezzelani A, Milanesi L, Naudon L, Marzal LNP, Pardo PP, Prince NZ, Rabot S, Roeselers G, Roos C, Roussin L, Scala G, Tuccinardi FP, Fasano A. {{Genome, Environment, Microbiome and Metabolome in Autism (GEMMA) Study Design: Biomarkers Identification for Precision Treatment and Primary Prevention of Autism Spectrum Disorders by an Integrated Multi-Omics Systems Biology Approach}}. {Brain Sci}. 2020; 10(10).
Autism Spectrum Disorder (ASD) affects approximately 1 child in 54, with a 35-fold increase since 1960. Selected studies suggest that part of the recent increase in prevalence is likely attributable to an improved awareness and recognition, and changes in clinical practice or service availability. However, this is not sufficient to explain this epidemiological phenomenon. Research points to a possible link between ASD and intestinal microbiota because many children with ASD display gastro-intestinal problems. Current large-scale datasets of ASD are limited in their ability to provide mechanistic insight into ASD because they are predominantly cross-sectional studies that do not allow evaluation of perspective associations between early life microbiota composition/function and later ASD diagnoses. Here we describe GEMMA (Genome, Environment, Microbiome and Metabolome in Autism), a prospective study supported by the European Commission, that follows at-risk infants from birth to identify potential biomarker predictors of ASD development followed by validation on large multi-omics datasets. The project includes clinical (observational and interventional trials) and pre-clinical studies in humanized murine models (fecal transfer from ASD probands) and in vitro colon models. This will support the progress of a microbiome-wide association study (of human participants) to identify prognostic microbiome signatures and metabolic pathways underlying mechanisms for ASD progression and severity and potential treatment response.
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29. Villante NK, Lerman DC, Som S, Hunt JC. {{Teaching adults with developmental disabilities to problem solve using electronic flowcharts in a simulated vocational setting}}. {Journal of applied behavior analysis}. 2020.
Teaching job-related problem-solving skills may increase the likelihood that individuals with developmental disabilities obtain and maintain employment (Kaye et al., 2011; Peck & Kirkbride, 2001; Unger, 2002). In this study, we evaluated the use of electronic-based flowcharts on an iPod Touch as a form of self-instruction to increase problem solving skills with 2 men diagnosed with developmental disabilities. An instructor implemented behavioral skills training (BST) to teach the participants how to use an electronic flowchart to solve one problem and then evaluated the participants’ use of electronic flowcharts to solve other types of problems, including those that required more than one solution. Results showed increases in problem solving skills across at least 2 problems that were not associated with BST and increases across all problem exemplars with verbal reminders and feedback. These findings have important implications for increasing independence on the job and decreasing intrusive and costly supports for those with disabilities.
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30. Yıldız Y, Göçmen R, Yaramış A, Coşkun T, Haliloğlu G. {{Creatine Transporter Deficiency Presenting as Autism Spectrum Disorder}}. {Pediatrics}. 2020.
Autism spectrum disorder (ASD) is the most common disability-causing neurodevelopmental disorder in childhood. Although inborn errors of metabolism (IEM) are rare causes of ASD, they are significant for several reasons, including implications in genetic counseling and determination of prognosis. In this article, we present a 6-year-old boy who presented to us with ASD and was diagnosed with creatine transporter deficiency. Physical and neurologic examination of this patient had not previously raised suspicion of IEM, but twin pregnancy, prematurity, NICU stay due to necrotizing enterocolitis, transient infantile hypotonia, gross-motor delay, breath-holding spells, and a single febrile seizure complicated the history. MRI revealed mild T2-hyperintensity in posterior periventricular white matter. Further evaluation with magnetic resonance spectroscopy, which showed a decreased creatine peak, led to diagnostic investigations for disorders of creatine metabolism, revealing increased urinary creatine:creatinine ratio and a de novo, novel hemizygous frameshift variant in SLC6A8 Clinicians are advised to maintain a high index of suspicion for IEM and to evaluate patients with ASD for syndromic features. Although current guidelines from relevant organizations differ in their recommendations regarding the necessity and the extent of metabolic screening in ASD, there is a growing trend toward screening for treatable IEM. In this case report, we present challenges and pitfalls in the diagnostic journey for creatine transporter deficiency and underline the significance of a thorough history and physical examination in the evaluation of a child with ASD.
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31. Zhao WM, Thirumal K, Renwick R, DuBois D. {{Belonging through sport participation for young adults with intellectual and developmental disabilities: A scoping review}}. {J Appl Res Intellect Disabil}. 2020.
BACKGROUND: Research suggests that sport facilitates belonging for diverse athletes. This scoping review characterizes literature on sport participation and belonging for young adults with intellectual and developmental disabilities. MATERIALS AND METHODS: A search of five databases identified 17,497 articles. Selected articles (N = 39) underwent data extraction and analysis guided by a theoretical framework of belonging, outlining four processes through which belonging is experienced by individuals with intellectual and developmental disabilities. RESULTS: Articles originated from developed countries and in the context of Special Olympics (N = 17). Studies commonly used qualitative interviews with proxy respondents. While all studies described at least one belonging process, only 11 studies applied the term « belonging, » and no study defined the construct. CONCLUSION: Belonging is not well-conceptualized in sports literature for athletes with intellectual and developmental disabilities. Understanding belonging through sport participation for this population may inform sport-based policies and programming.
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32. Zheng W, Zhao Z, Zhang Z, Liu T, Zhang Y, Fan J, Wu D. {{Developmental pattern of the cortical topology in high-functioning individuals with autism spectrum disorder}}. {Hum Brain Mapp}. 2020.
A number of studies have indicated alterations of brain morphology in individuals with autism spectrum disorder (ASD); however, how ASD influences the topological organization of the brain cortex at different developmental stages is not yet well characterized. In this study, we used structural images of 492 high-functioning participants in the Autism Brain Imaging Data Exchange database acquired from 17 international imaging centers, including 75 autistic children (age 7-11 years), 91 adolescents with ASD (age 12-17 years), and 80 young adults with ASD (age 18-29 years), and 246 typically developing controls (TDCs) that were age, gender, handedness, and full-scale IQ matched. Cortical thickness (CT) and surface area (SA) were extracted and the covariance between cortical regions across participants were treated as a network to examine developmental patterns of the cortical topological organization at different stages. A center-paired resampling strategy was developed to control the center bias during the permutation test. Compared with the TDCs, network of SA (but not CT) of individuals with ASD showed reduced small-worldness in childhood, and the network hubs were reorganized in the adulthood such that hubs inclined to connect with nonhub nodes and demonstrated more dispersed spatial distribution. Furthermore, the SA network of the ASD cohort exhibited increased segregation of the inferior parietal lobule and prefrontal cortex, and insular-opercular cortex in all three age groups, resulting in the emergence of two unique modules in the autistic brain. Our findings suggested that individuals with ASD may undergo remarkable remodeling of the cortical topology from childhood to adulthood, which may be associated with the altered social and cognitive functions in ASD.
