1. Andres-Roqueta C, Katsos N. {{A Distinction Between Linguistic and Social Pragmatics Helps the Precise Characterization of Pragmatic Challenges in Children With Autism Spectrum Disorders and Developmental Language Disorder}}. {Journal of speech, language, and hearing research : JSLHR}. 2020: 1-15.
Purpose Children with autism spectrum disorders (ASDs) and children with developmental language disorder (DLD) face challenges with pragmatics, but the nature and sources of these difficulties are not fully understood yet. The purpose of this study was to compare the competence of children with ASD and children with DLD in two pragmatics tasks that place different demands on theory of mind (ToM) and structural language. Method Twenty Spanish-speaking children with ASD, 20 with DLD, and 40 age- and language-matched children with neurotypical development were assessed using two pragmatics tasks: a linguistic pragmatics task, which requires competence with structural language, and a social pragmatics task, which requires competence with ToM as well. Results For linguistic pragmatics, the ASD group performed similarly to the DLD and language-matched groups, and performance was predicted by structural language. For social pragmatics, the ASD group performed lower than the DLD and language-matched groups, and performance was predicted both by structural language and ToM. Conclusions Children with ASD and children with DLD face difficulties in linguistic pragmatics tasks, in keeping with their structural language. Children with ASD face exceptional difficulties with social pragmatics tasks, due to their difficulties with ToM. The distinction between linguistic and social pragmatic competences can inform assessment and intervention for pragmatic difficulties in different populations.
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2. Chen T, Chen Y, Yuan M, Gerstein M, Li T, Liang H, Froehlich T, Lu L. {{The Development of a Practical Artificial Intelligence Tool for Diagnosing and Evaluating Autism Spectrum Disorder: Multicenter Study}}. {JMIR medical informatics}. 2020; 8(5): e15767.
BACKGROUND: Autism spectrum disorder (ASD) is a complex neurodevelopmental disorder with an unknown etiology. Early diagnosis and intervention are key to improving outcomes for patients with ASD. Structural magnetic resonance imaging (sMRI) has been widely used in clinics to facilitate the diagnosis of brain diseases such as brain tumors. However, sMRI is less frequently used to investigate neurological and psychiatric disorders, such as ASD, owing to the subtle, if any, anatomical changes of the brain. OBJECTIVE: This study aimed to investigate the possibility of identifying structural patterns in the brain of patients with ASD as potential biomarkers in the diagnosis and evaluation of ASD in clinics. METHODS: We developed a novel 2-level histogram-based morphometry (HBM) classification framework in which an algorithm based on a 3D version of the histogram of oriented gradients (HOG) was used to extract features from sMRI data. We applied this framework to distinguish patients with ASD from healthy controls using 4 datasets from the second edition of the Autism Brain Imaging Data Exchange, including the ETH Zurich (ETH), NYU Langone Medical Center: Sample 1, Oregon Health and Science University, and Stanford University (SU) sites. We used a stratified 10-fold cross-validation method to evaluate the model performance, and we applied the Naive Bayes approach to identify the predictive ASD-related brain regions based on classification contributions of each HOG feature. RESULTS: On the basis of the 3D HOG feature extraction method, our proposed HBM framework achieved an area under the curve (AUC) of >0.75 in each dataset, with the highest AUC of 0.849 in the ETH site. We compared the 3D HOG algorithm with the original 2D HOG algorithm, which showed an accuracy improvement of >4% in each dataset, with the highest improvement of 14% (6/42) in the SU site. A comparison of the 3D HOG algorithm with the scale-invariant feature transform algorithm showed an AUC improvement of >18% in each dataset. Furthermore, we identified ASD-related brain regions based on the sMRI images. Some of these regions (eg, frontal gyrus, temporal gyrus, cingulate gyrus, postcentral gyrus, precuneus, caudate, and hippocampus) are known to be implicated in ASD in prior neuroimaging literature. We also identified less well-known regions that may play unrecognized roles in ASD and be worth further investigation. CONCLUSIONS: Our research suggested that it is possible to identify neuroimaging biomarkers that can distinguish patients with ASD from healthy controls based on the more cost-effective sMRI images of the brain. We also demonstrated the potential of applying data-driven artificial intelligence technology in the clinical setting of neurological and psychiatric disorders, which usually harbor subtle anatomical changes in the brain that are often invisible to the human eye.
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3. Ciarrusta J, Dimitrova R, Batalle D, O’Muircheartaigh J, Cordero-Grande L, Price A, Hughes E, Kangas J, Perry E, Javed A, Demilew J, Hajnal J, Edwards AD, Murphy D, Arichi T, McAlonan G. {{Emerging functional connectivity differences in newborn infants vulnerable to autism spectrum disorders}}. {Translational psychiatry}. 2020; 10(1): 131.
Studies in animal models of autism spectrum disorders (ASD) suggest atypical early neural activity is a core vulnerability mechanism which alters functional connectivity and predisposes to dysmaturation of neural circuits. However, underlying biological changes associated to ASD in humans remain unclear. Results from functional connectivity studies of individuals diagnosed with ASD are highly heterogeneous, in part because of complex life-long secondary and/or compensatory events. To minimize these confounds and examine primary vulnerability mechanisms, we need to investigate very early brain development. Here, we tested the hypothesis that brain functional connectivity is altered in neonates who are vulnerable to this condition due to a family history of ASD. We acquired high temporal resolution multiband resting state functional magnetic resonance imaging (fMRI) in newborn infants with and without a first-degree relative with ASD. Differences in local functional connectivity were quantified using regional homogeneity (ReHo) analysis and long-range connectivity was assessed using distance correlation analysis. Neonates who have a first-degree relative with ASD had significantly higher ReHo within multiple resting state networks in comparison to age matched controls; there were no differences in long range connectivity. Atypical local functional activity may constitute a biomarker of vulnerability, that might precede disruptions in long range connectivity reported in older individuals diagnosed with ASD.
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4. Clarke KA, Williams DL. {{Instruction Using Augmentative and Alternative Communication Supports: Description of Current Practices by Speech-Language Pathologists Who Work With Children With Autism Spectrum Disorder}}. {American journal of speech-language pathology}. 2020; 29(2): 586-96.
Purpose The aim of this research study was to examine common practices of speech-language pathologists (SLPs) who work with children with autism spectrum disorder (ASD) with respect to whether or not SLPs consider processing differences in ASD or the effects of input during their instruction. Method Following a qualitative research method, how SLPs instruct and present augmentative and alternative communication systems to individuals with ASD, their rationale for method selection, and their perception of the efficacy of selected interventions were probed. Semistructured interviews were conducted as part of an in-depth case report with content analysis. Results Based on completed interviews, 4 primary themes were identified: (a) instructional method, (b) input provided, (c) decision-making process, and (d) perceived efficacy of treatment. Additionally, one secondary theme, training and education received, was identified. Conclusions Clinicians reported making decisions based on the needs of the child; however, they also reported making decisions based on the diagnostic category that characterized the child (i.e., ASD). The use of modeling when teaching augmentative and alternative communication to individuals with ASD emerged as a theme, but variations in the method of modeling were noted. SLPs did not report regularly considering processing differences in ASD, nor did they consider the effects of input during instruction.
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5. Cupaioli FA, Mosca E, Magri C, Gennarelli M, Moscatelli M, Raggi ME, Landini M, Galluccio N, Villa L, Bonfanti A, Renieri A, Fallerini C, Minelli A, Marabotti A, Milanesi L, Fasano A, Mezzelani A. {{Assessment of haptoglobin alleles in autism spectrum disorders}}. {Sci Rep}. 2020; 10(1): 7758.
Gene-environment interactions, by means of abnormal macromolecular intestinal adsorption, is one of the possible causes of autism spectrum disorders (ASD) predominantly in patients with gastrointestinal disorders. Pre-haptoglobin-2 (zonulin), encoded by the Haptoglobin (HP) allele-2 gene, enhances the intestinal permeability by modulation of intercellular tight junctions. The two alleles of HP, HP1 and HP2, differ for 2 extra exons in HP2 that result in exon duplication undetectable by classic genome-wide association studies. To evaluate the role of HP2 in ASD pathogenesis and to set up a method to discriminate HP alleles, Italian subjects with ASD (n = 398) and healthy controls (n = 379) were genotyped by PCR analysis; subsequently, the PCR results were integrated with microarray genotypes (Illumina Human Omni 1S-8), obtained using a subset from the same subjects, and then we developed a computational method to predict HP alleles. On the contrary to our expectations, there was no association between HP2 and ASD (P > 0.05), and there was no significant allele association in subjects with ASD with or without gastrointestinal disorders (P > 0.05). With the aid of bioinformatics analysis, from a window frame of ~2 Mb containing 314 SNPs, we obtain imputation accuracy (r(2)) between 0.4 and 0.9 (median 0.7) and correct predictions were between 70% and 100% (median 90%). The conclusions endorse that enhanced intestinal permeability in subjects with ASD should not be imputed to HP2 but to other members of the zonulin family and/or to environmental factors.
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6. Exley C, Clarkson E. {{Aluminium in human brain tissue from donors without neurodegenerative disease: A comparison with Alzheimer’s disease, multiple sclerosis and autism}}. {Sci Rep}. 2020; 10(1): 7770.
A burgeoning number of studies are demonstrating aluminium in human brain tissue. While research has both quantified and imaged aluminium in human brain tissue in neurodegenerative and neurodevelopmental disease there are few similar data for brain tissue from non-neurologically impaired donors. We have used microwave assisted acid digestion and transversely heated graphite furnace atomic absorption spectrometry to measure aluminium in twenty brains from donors without recognisable neurodegenerative disease. The aluminium content of 191 tissue samples was invariably low with over 80% of tissues having an aluminium content below 1.0 mug/g dry weight of tissue. The data for these control tissues were compared with data (measured using identical procedures) for sporadic Alzheimer’s disease, familial Alzheimer’s disease, autism spectrum disorder and multiple sclerosis. Detailed statistical analyses showed that aluminium was significantly increased in each of these disease groups compared to control tissues. We have confirmed previous conclusions that the aluminium content of brain tissue in Alzheimer’s disease, autism spectrum disorder and multiple sclerosis is significantly elevated. Further research is required to understand the role played by high levels of aluminium in the aetiology of human neurodegenerative and neurodevelopmental disease.
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7. Frasca A, Spiombi E, Palmieri M, Albizzati E, Valente MM, Bergo A, Leva B, Kilstrup-Nielsen C, Bianchi F, Di Carlo V, Di Cunto F, Landsberger N. {{MECP2 mutations affect ciliogenesis: a novel perspective for Rett syndrome and related disorders}}. {EMBO molecular medicine}. 2020: e10270.
Mutations in MECP2 cause several neurological disorders of which Rett syndrome (RTT) represents the best-defined condition. Although mainly working as a transcriptional repressor, MeCP2 is a multifunctional protein revealing several activities, the involvement of which in RTT remains obscure. Besides being mainly localized in the nucleus, MeCP2 associates with the centrosome, an organelle from which primary cilia originate. Primary cilia function as « sensory antennae » protruding from most cells, and a link between primary cilia and mental illness has recently been reported. We herein demonstrate that MeCP2 deficiency affects ciliogenesis in cultured cells, including neurons and RTT fibroblasts, and in the mouse brain. Consequently, the cilium-related Sonic Hedgehog pathway, which is essential for brain development and functioning, is impaired. Microtubule instability participates in these phenotypes that can be rescued by HDAC6 inhibition together with the recovery of RTT-related neuronal defects. Our data indicate defects of primary cilium as a novel pathogenic mechanism that by contributing to the clinical features of RTT might impact on proper cerebellum/brain development and functioning, thus providing a novel therapeutic target.
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8. Fung LK, Flores RE, Gu M, Sun KL, James D, Schuck RK, Jo B, Park JH, Lee BC, Jung JH, Kim SE, Saggar M, Sacchet MD, Warnock G, Khalighi MM, Spielman D, Chin FT, Hardan AY. {{Thalamic and prefrontal GABA concentrations but not GABAA receptor densities are altered in high-functioning adults with autism spectrum disorder}}. {Mol Psychiatry}. 2020.
The gamma aminobutyric acid (GABA) neurotransmission system has been implicated in autism spectrum disorder (ASD). Molecular neuroimaging studies incorporating simultaneous acquisitions of GABA concentrations and GABAA receptor densities can identify objective molecular markers in ASD. We measured both total GABAA receptor densities by using [(18)F]flumazenil positron emission tomography ([(18)F]FMZ-PET) and GABA concentrations by using proton magnetic resonance spectroscopy ((1)H-MRS) in 28 adults with ASD and 29 age-matched typically developing (TD) individuals. Focusing on the bilateral thalami and the left dorsolateral prefrontal cortex (DLPFC) as our regions of interest, we found no differences in GABAA receptor densities between ASD and TD groups. However, (1)H-MRS measurements revealed significantly higher GABA/Water (GABA normalized by water signal) in the left DLPFC of individuals with ASD than that of TD controls. Furthermore, a significant gender effect was observed in the thalami, with higher GABA/Water in males than in females. Hypothesizing that thalamic GABA correlates with ASD symptom severity in gender-specific ways, we stratified by diagnosis and investigated the interaction between gender and thalamic GABA/Water in predicting Autism-Spectrum Quotient (AQ) and Ritvo Autism Asperger’s Diagnostic Scale-Revised (RAADS-R) total scores. We found that gender is a significant effect modifier of thalamic GABA/Water’s relationship with AQ and RAADS-R scores for individuals with ASD, but not for TD controls. When we separated the ASD participants by gender, a negative correlation between thalamic GABA/Water and AQ was observed in male ASD participants. Remarkably, in female ASD participants, a positive correlation between thalamic GABA/Water and AQ was found.
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9. Gepner B, Godde A, Charrier A, Carvalho N, Tardif C. {{Reducing facial dynamics’ speed during speech enhances attention to mouth in children with autism spectrum disorder: An eye-tracking study}}. {Development and psychopathology}. 2020: 1-10.
Facial movements of others during verbal and social interaction are often too rapid to be faced and/or processed in time by numerous children and adults with autism spectrum disorder (ASD), which could contribute to their face-to-face interaction peculiarities. We wish here to measure the effect of reducing the speed of one’s facial dynamics on the visual exploration of the face by children with ASD. Twenty-three children with ASD and 29 typically-developing control children matched for chronological age passively viewed a video of a speaker telling a story at various velocities, i.e., a real-time speed and two slowed-down speeds. The visual scene was divided into four areas of interest (AOI): face, mouth, eyes, and outside the face. With an eye-tracking system, we measured the percentage of total fixation duration per AOI and the number and mean duration of the visual fixations made on each AOI. In children with ASD, the mean duration of visual fixations on the mouth region, which correlated with their verbal level, increased at slowed-down velocity compared with the real-time one, a finding which parallels a result also found in the control children. These findings strengthen the therapeutic potential of slowness for enhancing verbal and language abilities in children with ASD.
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10. Girolamo TM, Rice ML, Warren SF. {{Assessment of Language Abilities in Minority Adolescents and Young Adults With Autism Spectrum Disorder and Extensive Special Education Needs: A Pilot Study}}. {American journal of speech-language pathology}. 2020; 29(2): 804-18.
Purpose Little is known about the language abilities of adolescents and young adults with autism spectrum disorder (ASD) despite the importance of language in their other life outcomes. Even less is known about the language abilities of racial/ethnic minorities with ASD and extensive special education needs. These gaps limit our understanding of adolescents and young adults with ASD. Method A pilot study evaluated the efficacy of individualized age-referenced language assessment for minority adolescents and young adults with ASD in self-contained special education settings. Participants (n = 10) completed the Clinical Evaluation of Language Fundamentals-Third Edition, Test for Early Grammatical Impairment (TEGI), Columbia Mental Maturity Scale, and Wechsler Intelligence Scale for Children-Third Edition Digit Span. Results Clinical Evaluation of Language Fundamentals-Third Edition scores showed little variation, with most participants showing a floor effect. TEGI, Columbia Mental Maturity Scale, and Digit Span scores showed greater variation. Some participants had ceiling TEGI scores, and some had variable assessment profiles. Conclusion Assessment was sensitive to variability across some measures. The pilot study outcomes support the feasibility and potential informativeness of additional investigation of conventional language assessments and change over time.
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11. Hao Y, Franco JH, Sundarrajan M, Chen Y. {{A Pilot Study Comparing Tele-therapy and In-Person Therapy: Perspectives from Parent-Mediated Intervention for Children with Autism Spectrum Disorders}}. {J Autism Dev Disord}. 2020.
Conclusions about the efficacy of tele-therapy for parent-mediated intervention for children with Autism Spectrum Disorders (ASD) are limited, due to the shortage of direct comparisons between tele-therapy and traditional face-to-face therapy. In this study, we implemented a parent training program, which targeted on language facilitating intervention strategies. Fifteen parents of children with ASD participated in person, and 15 participated via online video conferencing. We measured parents’ intervention fidelity and children’s initiations, responses, lexical diversity and morphosyntactic complexity. Results indicated significant improvements in parents’ fidelity and children’s lexical diversity and morphosyntactic complexity. No significant differences were detected between the two therapy delivery groups on any outcome measures. Finally, children’s progress on morphosyntactic complexity was significantly correlated with parents’ improvement on fidelity.
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12. He C, Chen H, Uddin LQ, Erramuzpe A, Bonifazi P, Guo X, Xiao J, Chen H, Huang X, Li L, Sheng W, Liao W, Cortes JM, Duan X. {{Structure-Function Connectomics Reveals Aberrant Developmental Trajectory Occurring at Preadolescence in the Autistic Brain}}. {Cereb Cortex}. 2020.
Accumulating neuroimaging evidence shows that age estimation obtained from brain connectomics reflects the level of brain maturation along with neural development. It is well known that autism spectrum disorder (ASD) alters neurodevelopmental trajectories of brain connectomics, but the precise relationship between chronological age (ChA) and brain connectome age (BCA) during development in ASD has not been addressed. This study uses neuroimaging data collected from 50 individuals with ASD and 47 age- and gender-matched typically developing controls (TDCs; age range: 5-18 years). Both functional and structural connectomics were assessed using resting-state functional magnetic resonance imaging and diffusion tensor imaging data from the Autism Brain Imaging Data Exchange repository. For each participant, BCA was estimated from structure-function connectomics through linear support vector regression. We found that BCA matched well with ChA in TDC children and adolescents, but not in ASD. In particular, our findings revealed that individuals with ASD exhibited accelerated brain maturation in youth, followed by a delay of brain development starting at preadolescence. Our results highlight the critical role of BCA in understanding aberrant developmental trajectories in ASD and provide the new insights into the pathophysiological mechanisms of this disorder.
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13. Huang T, Finestack L. {{Comparing Morphosyntactic Profiles of Children With Developmental Language Disorder or Language Disorder Associated With Autism Spectrum Disorder}}. {American journal of speech-language pathology}. 2020; 29(2): 714-31.
Purpose Previous cross-population comparisons suggest a considerable overlap in the morphosyntactic profiles of children with developmental language disorder (DLD) and children who experience language disorder associated with autism spectrum disorder (LD-ASD). The goal of this study was to further examine and compare the morphosyntactic profiles of the two populations using both standardized, norm-referenced assessments and language sample analysis. Method We used the Structured Photographic Expressive Language Test-Third Edition (Dawson et al., 2003) and the Index of Productive Syntax (in Applied Psycholinguistics, 11(1), 1990 by Scarborough) to compare the morphosyntactic profiles of 21 children with DLD (5;6-8;1 [years;months]) and 15 children with LD-ASD (4;4-9;8). Results Overall, both groups’ morphosyntactic profiles were not significantly different based on the 26 structures assessed by the Structured Photographic Expressive Language Test-Third Edition. Chi-square analyses identified two structures on which the DLD group outperformed the LD-ASD group (i.e., participle and the conjunction « and »). Likewise, the groups’ morphosyntactic profiles were not significantly different based on the 56 items assessed by the Index of Productive Syntax. Analyses identified only one structure on which the DLD group outperformed the LD-ASD group (i.e., S8: Infinitive) and four structures on which the LD-ASD group outperformed the DLD group (i.e., Q9: Why/when/which, etc.; Q6: Wh-question with auxiliary, modal, or copula; Q4: Wh-question with verb; and Q2: Routine question). Conclusions Study results suggest that the morphosyntactic profiles of children with DLD and children with LD-ASD are not significantly different. Results also suggest potential weaknesses on forms that have not been the focus of previous studies. It is important for clinicians to assess each of these forms using both standardized assessments and language sample analysis to gain a full understanding of the language profiles of children with DLD or LD-ASD.
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14. Kanne SM, Bishop SL. {{Editorial Perspective: The autism waitlist crisis and remembering what families need}}. {J Child Psychol Psychiatry}. 2020.
Differential diagnosis of autism is very complex. Best practice guidelines in the US encourage the use of specialized tools by a highly trained provider. The need for this comprehensive evaluation, coupled with the increase in autism prevalence and awareness, has led to alarmingly long wait times for diagnostic evaluations. Several solutions are currently being researched to remedy this problem and relieve the pressure, including testing new devices or procedures that can speed up the diagnostic process. Creative solutions are welcomed; however, we urge caution in the use of new devices and methods without being fully vetted. Moreover, a quality assessment provides much more than just a designation of whether or not autism is present. Thus, even in cases when alternative means could be used to more quickly arrive at a diagnosis, a comprehensive assessment with a trained clinician is needed to guide recommendations and ongoing care.
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15. Koegel LK, Bryan KM, Su PL, Vaidya M, Camarata S. {{Parent Education in Studies With Nonverbal and Minimally Verbal Participants With Autism Spectrum Disorder: A Systematic Review}}. {American journal of speech-language pathology}. 2020; 29(2): 890-902.
Purpose The purpose of this systematic review was to identify parent education procedures implemented in intervention studies focused on expressive verbal communication for nonverbal (NV) or minimally verbal (MV) children with autism spectrum disorder (ASD). Parent education has been shown to be an essential component in the habilitation of individuals with ASD. Parents of individuals with ASD who are NV or MV may particularly benefit from parent education in order to provide opportunities for communication and to support their children across the life span. Method ProQuest databases were searched between the years of 1960 and 2018 to identify articles that targeted verbal communication in MV and NV individuals with ASD. A total of 1,231 were evaluated to assess whether parent education was implemented. We found 36 studies that included a parent education component. These were reviewed with regard to (a) the number of participants and participants’ ages, (b) the parent education program provided, (c) the format of the parent education, (d) the duration of the parent education, (e) the measurement of parent education, and (f) the parent fidelity of implementation scores. Results The results of this analysis showed that very few studies have included a parent education component, descriptions of the parent education programs are unclear in most studies, and few studies have scored the parents’ implementation of the intervention. Conclusions Currently, there is great variability in parent education programs in regard to participant age, hours provided, fidelity of implementation, format of parent education, and type of treatment used. Suggestions are made to provide both a more comprehensive description and consistent measurement of parent education programs.
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16. MacDuffie KE, Shen MD, Dager SR, Styner MA, Kim SH, Paterson S, Pandey J, St John T, Elison JT, Wolff JJ, Swanson MR, Botteron KN, Zwaigenbaum L, Piven J, Estes AM. {{Sleep Onset Problems and Subcortical Development in Infants Later Diagnosed With Autism Spectrum Disorder}}. {Am J Psychiatry}. 2020: appiajp201919060666.
OBJECTIVE: Sleep patterns in children with autism spectrum disorder (ASD) appear to diverge from typical development in the second or third year of life. Little is known, however, about the occurrence of sleep problems in infants who later develop ASD and possible effects on early brain development. In a longitudinal neuroimaging study of infants at familial high or low risk for ASD, parent-reported sleep onset problems were examined in relation to subcortical brain volumes in the first 2 years of life. METHODS: A total of 432 infants were included across three study groups: infants at high risk who developed ASD (N=71), infants at high risk who did not develop ASD (N=234), and infants at low risk (N=127). Sleep onset problem scores (derived from an infant temperament measure) were evaluated in relation to longitudinal high-resolution T1 and T2 structural imaging data acquired at 6, 12, and 24 months of age. RESULTS: Sleep onset problems were more common at 6-12 months among infants who later developed ASD. Infant sleep onset problems were related to hippocampal volume trajectories from 6 to 24 months only for infants at high risk who developed ASD. Brain-sleep relationships were specific to the hippocampus; no significant relationships were found with volume trajectories of other subcortical structures examined (the amygdala, caudate, globus pallidus, putamen, and thalamus). CONCLUSIONS: These findings provide initial evidence that sleep onset problems in the first year of life precede ASD diagnosis and are associated with altered neurodevelopmental trajectories in infants at high familial risk who go on to develop ASD. If replicated, these findings could provide new insights into a potential role of sleep difficulties in the development of ASD.
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17. Modi ME, Sahin M. {{Tau: A Novel Entry Point for mTOR-Based Treatments in Autism Spectrum Disorder?}}. {Neuron}. 2020; 106(3): 359-61.
Dysregulation of the PI3K/Akt/mTOR pathway has become a point of convergence in autism spectrum disorder (ASD). In this issue of Neuron, Tai et al. (2020) identify a therapeutic role for tau reduction in downregulating this pathway and ameliorating ASD-like symptoms.
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18. Romero-Gonzalez M, Marin E, Guzman-Parra J, Navas P, Aguilar JM, Lara JP, Barbancho MA. {{[Relationship between parental stress and psychological distress and emotional and behavioural problems in pre-school children with autistic spectrum disorder]}}. {Anales de pediatria (Barcelona, Spain : 2003)}. 2020.
INTRODUCTION: The Autistic Spectrum Disorders (ASD) are characterised by general deficits in social communication, stereotypes, and restricted interests. The ASD have a high prevalence of additional psychiatric disorders that make their daily functioning worse, and reduces the quality of life of them and their families. MATERIAL AND METHODS: In an effort to identify family environmental characteristics that may influence in the course of additional psychiatric disorders, this study has focused on the symptoms of parental stress and psychological distress as possible risk factors. A cross-section study was carried out on the relationship between the stress and psychological distress of the parents and its relationship with co-existing psychopathology in a population of pre-school children with ASD (2-6 years). RESULTS AND CONCLUSIONS: High levels of stress and psychological distress of the parents arealready associated, since early childhood, with co-existing psychiatric symptoms, specifically with emotional and behavioural problems (p < 0.05). However, further longitudinal studies are needed for a better understanding of the causal relationship between these variables and their possible bidirectional relationship. Lien vers le texte intégral (Open Access ou abonnement)
19. Rose BI, Brown SE. {{An explanation of the mechanisms underlying fragile X-associated premature ovarian insufficiency}}. {Journal of assisted reproduction and genetics}. 2020.
Fragile X and fragile X-associated tremor-ataxia syndrome (FXTAS) are caused by mutations of the FMR1 gene. The mutations causing FXTAS can expand in a generation to a « full mutation » causing fragile X syndrome. The mutations causing FXTAS and the phenotype, fragile X-associated premature ovarian insufficiency (FXPOI), are referred to as the FMR1 premutation (PM). The objective of this paper was to formulate a theory to explain the Mechanism for FXPOI.Recent research on fragile X syndrome and FXTAS has led to sophisticated theories about the mechanisms underlying these diseases. It has been proposed that similar mechanisms underlie FXPOI. Utilizing recent research on FXTAS, but a more detailed application of ovarian physiology, we present a more ovarian specific theory as to the primary mechanism explaining the development of FXPOI.The FXPOI phenotype may best be viewed as derivative of the observation that fragile X PM carriers experience menopause an average of 5 years earlier than non-carriers. Women carrying the PM experience an earlier menopause because of an accelerated activation of their primordial follicle pool. This acceleration of primordial follicle activation occurs, in part, because of diminished AMH production. AMH production is diminished because of accelerated atresia of early antral follicles. This accelerated atresia likely occurs because the fragile X PM leads to a slowing of the rate of granulosa cell mitosis in some follicles.
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20. Sandbank M, Bottema-Beutel K, Crowley S, Cassidy M, Feldman JI, Canihuante M, Woynaroski T. {{Intervention Effects on Language in Children With Autism: A Project AIM Meta-Analysis}}. {Journal of speech, language, and hearing research : JSLHR}. 2020: 1-24.
Purpose This study synthesized effects of interventions on language outcomes of young children (ages 0-8 years) with autism and evaluated the extent to which summary effects varied by intervention, participant, and outcome characteristics. Method A subset of effect sizes gathered for a larger meta-analysis (the Autism Intervention Meta-analysis or Project AIM) examining the effects of interventions for young children with autism, which were specific to language outcomes, was analyzed. Robust variance estimation and metaregression were used to calculate summary and moderated effects while controlling for intercorrelation among outcomes within studies. Results A total of 221 outcomes were gathered from 60 studies. The summary effect of intervention on language outcomes was small but significant. Summary effects were larger for expressive and composite language outcomes compared to receptive language outcomes. Interventions implemented by clinicians, or by clinicians and caregivers together, had summary effects that were significantly larger than interventions implemented by caregivers alone. Participants’ pretreatment language age equivalent scores positively and significantly moderated intervention effects, such that effects were significantly larger on average when samples of children had higher pretreatment language levels. Effects were not moderated by cumulative intervention intensity, intervention type, autism symptomatology, chronological age, or the proximity or boundedness of outcomes. Study quality concerns were apparent for a majority of included outcomes. Conclusions We found evidence that intervention can facilitate improvements in language outcomes for young children with autism. Effects were largest for expressive and composite language outcomes, for children with initially higher language abilities, and for interventions implemented by clinicians or by caregivers and clinicians combined. However, quality concerns of included studies and borderline significance of some results temper our conclusions regarding intervention effectiveness and corresponding moderators.
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21. Strang JF, Knauss M, van der Miesen A, McGuire JK, Kenworthy L, Caplan R, Freeman A, Sadikova E, Zaks Z, Pervez N, Balleur A, Rowlands DW, Sibarium E, Willing L, McCool MA, Ehrbar RD, Wyss SE, Wimms H, Tobing J, Thomas J, Austen J, Pine E, Griffin AD, Janssen A, Gomez-Lobo V, Brandt A, Morgan C, Meagher H, Gohari D, Kirby L, Russell L, Powers MD, Anthony LG. {{A Clinical Program for Transgender and Gender-Diverse Neurodiverse/Autistic Adolescents Developed through Community-Based Participatory Design}}. {J Clin Child Adolesc Psychol}. 2020: 1-16.
Objective: A series of studies report elevated rates of autism and autistic characteristics among gender-diverse youth seeking gender services. Although youth with the co-occurrence present with complex care needs, existing studies have focused on co-occurrence rates. Further, clinical commentaries have emphasized provider-centered interpretations of clinical needs rather than key stakeholder-driven clinical approaches. This study aimed to employ community-based participatory research methodologies to develop a key stakeholder-driven clinical group program.Method: Autistic/neurodiverse gender-diverse (A/ND-GD) youth (N = 31), parents of A/ND-GD youth (N = 46), A/ND-GD self-advocates (N = 10), and expert clinical providers (N = 10) participated in a multi-stage community-based participatory procedure. Needs assessment data were collected repeatedly over time from A/ND-GD youth and their parents as the youth interacted with one another through ongoing clinical groups, the curriculum of which was developed progressively through the iterative needs assessments.Results: Separate adolescent and parent needs assessments revealed key priorities for youth (e.g., the importance of connecting with other A/ND-GD youth and the benefit of experiencing a range of gender-diverse role models to make gender exploration and/or gender affirmation more concrete) and parents (e.g., the need for A/ND-related supports for their children as well as provision of an A/ND-friendly environment that fosters exploration of a range of gender expressions/options). Integration and translation of youth and parent priorities resulted in 11 novel clinical techniques for this population.Conclusions: With generally high acceptability ratings for each component of the group program, this study presents a community-driven clinical model to support broad care needs and preferences of A/ND-GD adolescents.
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22. Vega ML, Newport GC, Bozhdaraj D, Saltz SB, Nemeroff CB, Newport DJ. {{Implementation of Advanced Methods for Reproductive Pharmacovigilance in Autism: A Meta-Analysis of the Effects of Prenatal Antidepressant Exposure}}. {Am J Psychiatry}. 2020: appiajp202018070766.
OBJECTIVE: Observational studies of prenatal antidepressant safety are hindered by methodological concerns, including susceptibility to surveillance bias. Some studies address potential bias by using alternative strategies to operationalize study comparison groups. In a meta-analysis of the association between prenatal antidepressant exposure and autism risk, the authors examined the utility of comparison group operationalization in reducing surveillance bias. METHODS: A systematic search of multiple databases through August 2017 was conducted, selecting controlled observational studies of the association of prenatal antidepressant exposure with autism. Study quality was assessed using the Newcastle-Ottawa Scale. Random-effects meta-analysis produced summary effect measures with 95% confidence intervals stratified by comparator group composition, antidepressant class, and trimester of exposure. RESULTS: Fourteen studies were included, with 13 reporting results using a population-based comparison group, five using a psychiatric control group, and four using a discordant-sibling control group. Eight of the 14 studies were rated poor because of inadequate control for prenatal depression and maternal ethnicity. Autism risk estimates after prenatal exposure to any antidepressant were decidedly different for population-based designs (hazard ratio=1.42, 95% CI=1.18, 1.70; odds ratio=1.58, 95% CI=1.25, 1.99) compared with psychiatric control (hazard ratio=1.14, 95% CI=0.84, 1.53; odds ratio=1.24, 95% CI=0.93, 1.66) and discordant-sibling (hazard ratio=0.97, 95% CI=0.68, 1.37; odds ratio=0.85, 95% CI=0.54, 1.35) designs. Findings for prenatal exposure to selective serotonin reuptake inhibitors were similar. Meta-regression of population-based studies demonstrated that despite statistical adjustment, ethnicity differences remained a significant source of study heterogeneity. CONCLUSIONS: In this meta-analysis, neither psychiatric control nor discordant-sibling designs supported an association between prenatal antidepressant exposure and autism. Discordant-sibling designs effectively addressed surveillance bias in pharmacovigilance reports derived from national registries and other large databases.
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23. Wallis KE, Guthrie W, Bennett AE, Gerdes M, Levy SE, Mandell DS, Miller JS. {{Adherence to screening and referral guidelines for autism spectrum disorder in toddlers in pediatric primary care}}. {PLoS One}. 2020; 15(5): e0232335.
OBJECTIVES: Although the American Academy of Pediatrics recommends screening for autism spectrum disorder (ASD) for all young children, disparities in ASD diagnosis and intervention in minority children persist. One potential contributor to disparities could be whether physicians take different actions after an initial positive screen based on patient demographics. This study estimated factors associated with physicians completing the follow-up interview for the Modified Checklist for Autism in Toddlers with Follow-up (M-CHAT-F), and referring children to diagnostic services, audiology, and Early Intervention (EI) immediately after a positive screen. METHODS: Children seen in a large primary care network that has implemented universal ASD screening were included if they screened positive on the M-CHAT parent questionnaire during a 16-30 month well child visit (N = 2882). Demographics, screening results, and referrals were extracted from the electronic health record. RESULTS: Children from lower-income families or on public insurance were more likely to have been administered the follow-up interview. Among children who screened positive, 26% were already in EI, 31% were newly referred to EI, 11% were referred each to audiology and for comprehensive ASD evaluation. 40.2% received at least one recommended referral; 3.7% received all recommended referrals. In adjusted multivariable models, male sex, white versus black race, living in an English-speaking household, and having public insurance were associated with new EI referral. Male sex, black versus white race, and lower household income were associated with referral to audiology. Being from an English-speaking family, white versus Asian race, and lower household income were associated with referral for ASD evaluation. A concurrent positive screen for general developmental concerns was associated with each referral. CONCLUSIONS: We found low rates of follow-up interview completion and referral after positive ASD screen, with variations in referral by sex, language, socio-economic status, and race. Understanding pediatrician decision-making about ASD screening is critical to improving care and reducing disparities.
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24. Wilder DA, Ertel H, Thomas R. {{Further analysis of modifications to the three-step guided compliance procedure to enhance compliance among children with autism}}. {Journal of applied behavior analysis}. 2020.
Three-step guided compliance (vocal prompt, vocal plus model prompt, vocal prompt plus physical guidance) is a commonly used procedure to increase compliance among children with intellectual disabilities. Previous research has suggested that under some conditions, slight modifications to the three-step procedure may enhance its effectiveness. These modifications include omitting the model prompt and decreasing the interprompt interval. In the current study, we evaluated another modification to the procedure: the delivery of a high-preference item contingent upon compliance with the first vocal prompt (i.e., differential reinforcement). For 2 participants with autism, compliance remained low when we implemented differential reinforcement and the guided compliance procedure in isolation. However, compliance improved when we combined differential reinforcement and the three-step guided procedure, suggesting that for at least some children, the combination of contingent access to a high-preference item and the guided compliance procedure is more effective than either intervention alone.
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25. Yu Q, Li E, Li L, Liang W. {{Efficacy of Interventions Based on Applied Behavior Analysis for Autism Spectrum Disorder: A Meta-Analysis}}. {Psychiatry investigation}. 2020.
OBJECTIVE: To systematically evaluate evidence for the use of interventions based on appied behavior analysis (ABA) to manage various symptoms of children with autism spectrum disorder (ASD). METHODS: Sensitivity analyses were conducted by removing any outlying studies and subgroup analyses were performed to compare the effectiveness of ABA and early start denver model (ESDM), picture exchange communication systems (PECS) and discrete trial training (DTT). RESULTS: 14 randomized control trials of 555 participants were included in this meta-analysis. The overall standardized mean difference was d=-0.36 (95% CI -1.31, 0.58; Z=0.75, p=0.45) for autism general symptoms, d=0.11 (95% CI -0.31, 0.54; Z=0.52, p=0.60) for socialization, d=0.30 (95% CI -0.02, 0.61; Z=1.84, p=0.07) for communication and d=-3.52 (95% CI -6.31, -0.72; Z=2.47, p=0.01) for expressive language, d=-0.04 (95% CI -0.44, 0.36; Z=0.20, p=0.84) for receptive language. Those results suggested outcomes of socialization, communication and expressive language may be promising targets for ABA-based interventions involving children with ASD. However, significant effects for the outcomes of autism general symptoms, receptive language, adaptive behavior, daily living skills, IQ, verbal IQ, nenverbal IQ, restricted and repetitive behavior, motor and cognition were not observed. CONCLUSION: The small number of studies included in the present study limited the ability to make inferences when comparing ABA, ESDM, PECS and DTT interventions for children with ASD.
