1. Cho M, Rodger S, Copley J, Chien CW. {{Participation in school-related activities that require hand use for children with and without developmental disabilities}}. {J Intellect Disabil Res};2017 (Dec 18)
BACKGROUND: Children with developmental disabilities (DD) may experience limited participation in school activities. Little is known about whether school participation of children with DD who attend special schools is impacted. This study specifically focused on physical engagement in school-related activities that require hand use for the comparison between this group of children with DD and typically developing children. METHODS: The sample consisted of 97 children with DD who attended special schools (mean age 8.2 +/- 2.9 years; 60 boys and 37 girls) and 105 typically developing children who attended mainstream schools/kindergartens (mean age 8.6 +/- 2.4 years; 48 boys and 57 girls). Parents completed the Children’s Assessment of Participation with Hands, one of the domains of which captures participation in eight school-related activities involving hand use. RESULTS: Parents of children with DD reported that their children participated less, in terms of the number (chi(2) = 8.45-14.97, P Lien vers le texte intégral (Open Access ou abonnement)
2. Gibbard CR, Ren J, Skuse DH, Clayden JD, Clark CA. {{Structural connectivity of the amygdala in young adults with autism spectrum disorder}}. {Hum Brain Mapp};2017 (Dec 19)
Autism spectrum disorder (ASD) is characterized by impairments in social cognition, a function associated with the amygdala. Subdivisions of the amygdala have been identified which show specificity of structure, connectivity, and function. Little is known about amygdala connectivity in ASD. The aim of this study was to investigate the microstructural properties of amygdala-cortical connections and their association with ASD behaviours, and whether connectivity of specific amygdala subregions is associated with particular ASD traits. The brains of 51 high-functioning young adults (25 with ASD; 26 controls) were scanned using MRI. Amygdala volume was measured, and amygdala-cortical connectivity estimated using probabilistic tractography. An iterative ‘winner takes all’ algorithm was used to parcellate the amygdala based on its primary cortical connections. Measures of amygdala connectivity were correlated with clinical scores. In comparison with controls, amygdala volume was greater in ASD (F(1,94) = 4.19; p = .04). In white matter (WM) tracts connecting the right amygdala to the right cortex, ASD subjects showed increased mean diffusivity (t = 2.35; p = .05), which correlated with the severity of emotion recognition deficits (rho = -0.53; p = .01). Following amygdala parcellation, in ASD subjects reduced fractional anisotropy in WM connecting the left amygdala to the temporal cortex was associated with with greater attention switching impairment (rho = -0.61; p = .02). This study demonstrates that both amygdala volume and the microstructure of connections between the amygdala and the cortex are altered in ASD. Findings indicate that the microstructure of right amygdala WM tracts are associated with overall ASD severity, but that investigation of amygdala subregions can identify more specific associations.
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3. Knaus TA, Kamps J, Foundas AL, Tager-Flusberg H. {{Atypical PT anatomy in children with autism spectrum disorder with expressive language deficits}}. {Brain Imaging Behav};2017 (Dec 19)
Deficits in communication are a core feature of autism spectrum disorder (ASD), however, structural language abilities are highly variable, ranging from minimally verbal to superior linguistic skills. Differences in the anatomy of cortical language regions, including anterior and posterior areas, have been found in ASD. It remains unclear, however, if anatomical differences distinguish individuals with impaired expressive language from those without such deficits. In addition, anatomical differences have not been explored in children with extremely low expressive language. This study included 34 boys with ASD, 7-11 years old, including an expressive language impaired group (n = 17) and an average-high language group (n = 17). The language impaired group was subdivided into a low (n = 9) and extremely low (n = 8) language subgroup for exploratory analyses to determine whether children with ASD with extremely low expressive language abilities exhibit distinct anatomy. Gray matter volume of the pars triangularis, pars opercularis, and planum temporale (PT) were measured on MRIs. PT volume was smaller in the ASD group with expressive language impairment relative to those without language deficits. The right PT volume was also positively correlated with language scores. The exploratory analyses revealed differences in the left PT, with smaller volume in the extremely low language subgroup, relative to the average and moderately low language groups. Results suggest that smaller PT volumes in both hemispheres are associated with severe language impairments in ASD. The PT may therefore, be a biomarker of language outcome in young children with ASD, with more studies of PT anatomy necessary.
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4. Kuder SJ, Accardo A. {{What Works for College Students with Autism Spectrum Disorder}}. {J Autism Dev Disord};2017 (Dec 16)
This article reports the results of a systematic review of the emerging research on programs and services designed to meet the needs of students with ASD. For the purposes of this review, only articles that included data on program outcomes were included. A total of eight studies that met this criterion were identified. These studies included three that examined the effects of cognitive-behavioral interventions, three that reported the results of methods to enhance social communication skills, one study of a transition to college program, and one evaluation of a variety of widely used accommodations. This review identifies methods that have been found to be effective supporting students with ASD in higher education settings as well as needs for future research.
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5. Lajiness-O’Neill R, Brennan JR, Moran JE, Richard AE, Flores AM, Swick C, Goodcase R, Andersen T, McFarlane K, Rusiniak K, Kovelman I, Wagley N, Ugolini M, Albright J, Bowyer SM. {{Patterns of altered neural synchrony in the default mode network in autism spectrum disorder revealed with magnetoencephalography (MEG): Relationship to clinical symptomatology}}. {Autism Res};2017 (Dec 18)
Disrupted neural synchrony may be a primary electrophysiological abnormality in autism spectrum disorders (ASD), altering communication between discrete brain regions and contributing to abnormalities in patterns of connectivity within identified neural networks. Studies exploring brain dynamics to comprehensively characterize and link connectivity to large-scale cortical networks and clinical symptoms are lagging considerably. Patterns of neural coherence within the Default Mode Network (DMN) and Salience Network (SN) during resting state were investigated in 12 children with ASD (MAge = 9.2) and 13 age and gender-matched neurotypicals (NT) (MAge = 9.3) with magnetoencephalography. Coherence between 231 brain region pairs within four frequency bands (theta (4-7 Hz), alpha, (8-12 Hz), beta (13-30 Hz), and gamma (30-80 Hz)) was calculated. Relationships between neural coherence and social functioning were examined. ASD was characterized by lower synchronization across all frequencies, reaching clinical significance in the gamma band. Lower gamma synchrony between fronto-temporo-parietal regions was observed, partially consistent with diminished default mode network (DMN) connectivity. Lower gamma coherence in ASD was evident in cross-hemispheric connections between: angular with inferior/middle frontal; middle temporal with middle/inferior frontal; and within right-hemispheric connections between angular, middle temporal, and inferior/middle frontal cortices. Lower gamma coherence between left angular and left superior frontal, right inferior/middle frontal, and right precuneus and between right angular and inferior/middle frontal cortices was related to lower social/social-communication functioning. Results suggest a pattern of lower gamma band coherence in a subset of regions within the DMN in ASD (angular and middle temporal cortical areas) related to lower social/social-communicative functioning. Autism Res 2017. (c) 2017 International Society for Autism Research, Wiley Periodicals, Inc. LAY SUMMARY: Communication between different areas of the brain was observed in children with ASD and neurotypical children while awake, but not working on a task. Magnetoencephalography was used to measure tiny magnetic fields naturally generated via brain activity. The brains of children with ASD showed less communication between areas that are important for social information processing compared to the brains of neurotypical children. The amount of communication between these areas was associated with social and social communication difficulties.
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6. Laurent AC, Gorman K. {{Development of Emotion Self-Regulation Among Young Children with Autism Spectrum Disorders: The Role of Parents}}. {J Autism Dev Disord};2017 (Dec 16)
Emotional self-regulation (ESR) challenges are well-documented in the diagnostic profiles of children with Autism; however, less is known about the development of ESR and the role of parents in ESR development for this population. Thirty-seven young children with autism and one of their parents participated in a home-based, observational study exploring the associations between the children’s social communication and sensory processing characteristics and their parents’ behaviors associated with ESR development. Findings revealed that parent use of physical and language behaviors were associated with child social communication abilities. No associations between child sensory processing and parent behaviors were found. Understanding the interactive processes between parents and children with ASD has implications for the development of parent-based interventions that increase child ESR.
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7. McLaughlin K, Travers BG, Dadalko OI, Dean DC, 3rd, Tromp D, Adluru N, Destiche D, Freeman A, Prigge MD, Froehlich A, Duffield TC, Zielinski BA, Bigler ED, Lange N, Anderson JS, Alexander AL, Lainhart JE. {{Longitudinal development of thalamic and internal capsule microstructure in autism spectrum disorder}}. {Autism Res};2017 (Dec 18)
The thalamus is a key sensorimotor relay area that is implicated in autism spectrum disorder (ASD). However, it is unknown how the thalamus and white-matter structures that contain thalamo-cortical fiber connections (e.g., the internal capsule) develop from childhood into adulthood and whether this microstructure relates to basic motor challenges in ASD. We used diffusion weighted imaging in a cohort-sequential design to assess longitudinal development of the thalamus, and posterior- and anterior-limbs of the internal capsule (PLIC and ALIC, respectively) in 89 males with ASD and 56 males with typical development (3-41 years; all verbal). Our results showed that the group with ASD exhibited different developmental trajectories of microstructure in all regions, demonstrating childhood group differences that appeared to approach and, in some cases, surpass the typically developing group in adolescence and adulthood. The PLIC (but not ALIC nor thalamus) mediated the relation between age and finger-tapping speed in both groups. Yet, the gap in finger-tapping speed appeared to widen at the same time that the between-group gap in the PLIC appeared to narrow. Overall, these results suggest that childhood group differences in microstructure of the thalamus and PLIC become less robust in adolescence and adulthood. Further, finger-tapping speed appears to be mediated by the PLIC in both groups, but group differences in motor speed that widen during adolescence and adulthood suggest that factors beyond the microstructure of the thalamus and internal capsule may contribute to atypical motor profiles in ASD. Autism Res 2017. (c) 2017 International Society for Autism Research, Wiley Periodicals, Inc. LAY SUMMARY: Microstructure of the thalamus, a key sensory and motor brain area, appears to develop differently in individuals with autism spectrum disorder (ASD). Microstructure is important because it informs us of the density and organization of different brain tissues. During childhood, thalamic microstructure was distinct in the ASD group compared to the typically developing group. However, these group differences appeared to narrow with age, suggesting that the thalamus continues to dynamically change in ASD into adulthood.
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8. Ming S, Mulhern T, Stewart I, Moran L, Bynum K. {{Training class inclusion responding in typically-developing children and individuals with autism}}. {J Appl Behav Anal};2017 (Dec 19)
In a class inclusion task, a child must respond to stimuli as being involved in two different though hierarchically related categories. This study used a Relational Frame Theory (RFT) paradigm to assess and train this ability in three typically developing preschoolers and three individuals with autism spectrum disorder, all of whom had failed class inclusion tests. For all subjects, relational training successfully established the target repertoire and subsequent testing demonstrated both maintenance and generalization. Limitations and future research directions are discussed.
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9. Naviaux RK. {{Antipurinergic therapy for autism-An in-depth review}}. {Mitochondrion};2017 (Dec 16)
Are the symptoms of autism caused by a treatable metabolic syndrome that traces to the abnormal persistence of a normal, alternative functional state of mitochondria? A small clinical trial published in 2017 suggests this is possible. Based on a new unifying theory of pathogenesis for autism called the cell danger response (CDR) hypothesis, this study of 10 boys, ages 5-14years, showed that all 5 boys who received antipurinergic therapy (APT) with a single intravenous dose of suramin experienced improvements in all the core symptoms of autism that lasted for 5-8weeks. Language, social interaction, restricted interests, and repetitive movements all improved. Two children who were non-verbal spoke their first sentences. None of these improvements were observed in the placebo group. Larger and longer studies are needed to confirm this promising discovery. This review introduces the concept of M2 (anti-inflammatory) and M1 (pro-inflammatory) mitochondria that are polarized along a functional continuum according to cell stress. The pathophysiology of the CDR, the complementary functions of M1 and M2 mitochondria, relevant gene-environment interactions, and the metabolic underpinnings of behavior are discussed as foundation stones for understanding the improvements in ASD behaviors produced by antipurinergic therapy in this small clinical trial.
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10. Neuhaus E, Beauchaine TP, Bernier RA, Webb SJ. {{Child and family characteristics moderate agreement between caregiver and clinician report of autism symptoms}}. {Autism Res};2017 (Dec 18)
Rates of autism spectrum disorder (ASD) and age at first diagnosis vary considerably across the United States and are moderated by children’s sex, race, ethnicity, and availability of services. We additionally suggest that degree of caregiver-clinician agreement on ASD symptoms may play a role in ASD assessment. Since gold standard ASD assessment integrates caregiver-reported developmental history with clinician observations, differential agreement between reporters across demographic groups may contribute to a host of detrimental outcomes. Here, we investigate whether caregiver-clinician agreement on ASD symptoms varies according to child and family characteristics. Comprehensive data from 2,759 families in the Simons Simplex Collection were analyzed. Linear models were created with caregiver reports predicting clinician reports, and moderating effects of child characteristics and family factors were examined. Poorer reporter correspondence was observed when children had higher IQ scores, stronger adaptive behavior, and more behavioral difficulties. Greater disagreement was also associated with African American racial status (for younger children), lower household income, and paternal social difficulties (for older children). Children’s biological sex did not moderate caregiver-clinician agreement. Marked disagreement between caregivers and clinicians could lead to suboptimal or insufficient intervention services and negative experiences for families throughout development. Such families may also be less likely to qualify for research studies, and therefore be underrepresented in the ASD literature. Modified assessment procedures may be required to improve assessment accuracy and family experiences. Autism Res 2017. (c) 2017 International Society for Autism Research, Wiley Periodicals, Inc. LAY SUMMARY: Evaluation of autism spectrum disorder (ASD) incorporates both caregiver and clinician perspectives of symptoms, and disagreement between these perspectives could lead to poorer outcomes for families. Using data from 2,759 families, we show that caregiver-clinician agreement on ASD symptoms is poorer for children with higher cognitive and adaptive skills, more behavioral difficulties, lower household income, and African American racial status. These children may be at higher risk for misdiagnosis, poorer family experiences during evaluations, and poorer representation in ASD research.
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11. Soriano MF, Ibanez-Molina AJ, Paredes N, Macizo P. {{Autism: Hard to Switch from Details to the Whole}}. {J Abnorm Child Psychol};2017 (Dec 18)
It has long been proposed that individuals with autism exhibit a superior processing of details at the expense of an impaired global processing. This theory has received some empirical support, but results are mixed. In this research we have studied local and global processing in ASD and Typically Developing children, with an adaptation of the Navon task, designed to measure congruency effects between local and global stimuli and switching cost between local and global tasks. ASD children showed preserved global processing; however, compared to Typically Developing children, they exhibited more facilitation from congruent local stimuli when they performed the global task. In addition, children with ASD had more switching cost than Typically Developing children only when they switched from the local to the global task, reflecting a specific difficulty to disengage from local stimuli. Together, results suggest that ASD is characterized by a tendency to process local details, they benefit from the processing of local stimuli at the expense of increasing cost to disengage from local stimuli when global processing is needed. Thus, this work demonstrates experimentally the advantages and disadvantages of the increased local processing in children with ASD.
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12. Zhang J, Meng Y, Tong X, Yuan Z, Wu C. {{Exploring the Neural Correlates of Lexical Stress Perception in English among Chinese-English Bilingual Children with Autism Spectrum Disorder: an ERP Study}}. {Neurosci Lett};2017 (Dec 14)
Previous studies found that individuals with autism spectrum disorder (ASD) were less sensitive to the variations of lexical stress in their native language. However, no study has been conducted to explore the perception of lexical stress in the second language among individuals with ASD. Using ERP (event-related potential) measurement with an oddball paradigm, the current study examined and compared the neural responses by Chinese-English bilingual children with ASD and typically developing controls in the processing of English lexical stress. The results showed that when compared with typically developing controls, children with ASD manifested reduced MMN (mismatch negativity) amplitude at the left temporal-parietal and parietal sites, indicating that they were less sensitive to lexical stress. However, a more negative MMN response was found for ASD group than for typically developing group at the right central-parietal, temporal-parietal, and temporal sites. In addition, the right hemisphere was more activated than the left hemisphere for ASD group, which might be derived from the reversed asymmetry of brain activation for people with ASD when processing language-related stimuli.
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13. Gillon G, Hyter Y, Fernandes FD, Ferman S, Hus Y, Petinou K, Segal O, Tumanova T, Vogindroukas I, Westby C, Westerveld M. {{International Survey of Speech-Language Pathologists’ Practices in Working with Children with Autism Spectrum Disorder}}. {Folia Phoniatr Logop};2017;69(1-2):8-19.
OBJECTIVE: Autism spectrum disorder (ASD) is a complex neurodevelopmental impairment. To better understand the role of speech-language pathologists (SLPs) in different countries in supporting children with ASD, the International Association of Logopedics and Phoniatrics (IALP) Child Language Committee developed a survey for SLPs working with children or adolescents with ASD. Method and Participants: The survey comprised 58 questions about background information of respondents, characteristics of children with ASD, and the role of SLPs in diagnosis, assessment, and intervention practices. The survey was available in English, French, Russian, and Portuguese, and distributed online. RESULTS: This paper provides a descriptive summary of the main findings from the quantitative data from the 1,114 SLPs (representing 35 countries) who were supporting children with ASD. Most of the respondents (91%) were experienced in working with children with ASD, and the majority (75%) worked in schools or early childhood settings. SLPs reported that the children’s typical age at diagnosis of ASD on their caseload was 3-4 years, completed mostly by a professional team. CONCLUSIONS: The results support positive global trends for SLPs using effective practices in assessment and intervention for children with ASD. Two areas where SLPs may need further support are involving parents in assessment practices, and supporting literacy development in children with ASD.
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14. Hyter Y, Vogindroukas I, Chelas EN, Paparizos K, Kivrakidou E, Kaloudi V. {{Differentiating Autism from Typical Development: Preliminary Findings of Greek Versions of a Pragmatic Language and Social Communication Questionnaire}}. {Folia Phoniatr Logop};2017;69(1-2):20-26.
OBJECTIVE: A social pragmatic communication disorder is one of the primary characteristics of children with autism. Although several measures of pragmatics and social communication exist, many are not comprehensive, do not examine the quality of interactions across contexts and interlocutors, and cannot be easily administered and interpreted. The aim of this article is to report on preliminary data collected using the Greek version of comprehensive social communication and pragmatic language questionnaires completed by parents and teachers interacting with young children in different contexts. METHODS: A Greek translation of the social communication and pragmatic language questionnaires was administered to parents and teachers of 31 children diagnosed with autism and of 51 typically developing children aged 3.0-6.0 years. Analysis and Results: The performance on the Greek versions of the social communication and pragmatic language questionnaires of typically developing children was compared with the performance of the children with autism using a series of independent t tests. Descriptive statistics were used to summarize participant characteristics and performances on the measure. Preliminary results showed that significant differences with moderate effect sizes were found between groups on 63% of the 30 test items. CONCLUSIONS: The performance of children on questionnaires may lead to the development of easily administered and interpretable assessments for differentiating children with pragmatics and social communication impairments, such as children with autism, from typically developing children.
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15. Hus Y. {{Issues in Identification and Assessment of Children with Autism and a Proposed Resource Toolkit for Speech-Language Pathologists}}. {Folia Phoniatr Logop};2017;69(1-2):27-37.
BACKGROUND: The prevalence of autism spectrum disorder (ASD) has increased significantly in the last decade as have treatment choices. Nonetheless, the vastly diverse autism topic includes issues related to naming, description, iden-tification, assessment, and differentiation from other neu-rodevelopmental conditions. ASD issues directly impact speech-language pathologists (SLPs) who often see these children as the second contact, after pediatric medical practitioners. Because of shared symptomology, differentiation among neurodevelopmental disorders is crucial as it impacts treatment, educational choices, and the performance trajectory of affected children. OBJECTIVES: To highlight issues in: identification and differentiation of ASD from other communication and language challenges, the prevalence differences between ASD gender phenotypes, and the insufficient consideration of cultural factors in evaluating ASD in children. A second objective was to propose a tool to assist SLPs in the management of autism in children. SUMMARY: A universal resource toolkit development project for SLP communities at large is proposed. The resource is comprised of research-based observation and screening tools for caregivers and educators, as well as parent questionnaires for portraying the children’s function in the family, cultural com-munity, and educational setting.
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16. Petinou K, Minaidou D. {{Neurobiological Bases of Autism Spectrum Disorders and Implications for Early Intervention: A Brief Overview}}. {Folia Phoniatr Logop};2017;69(1-2):38-42.
OBJECTIVES: To better understand the pathogenesis of autism spectrum disorder (ASD) and implications for intervention, the current paper reports on research related to the neurobiological underpinnings of ASD and the implication for early intervention with a focus on the importance of joint attention and eye gaze behaviors. PARTICIPANTS AND METHODS: An overview is provided on the available research findings from the fields of social neuroscience and experimental psychology specific to brain development, brain pathology, eye gaze, and joint attention behaviors. RESULTS: The results of the review converge towards the existence of aberrant brain connections and atypical brain morphology areas, which in complex and dynamic ways hinder the prioritization of social information. Consequently, the atypical social interaction skills exhibited by infants at risk for developing ASD are traced in the malformation of respective brain connections. CONCLUSIONS: Given the importance of neurobiological findings and their mapping onto early social pragmatic skills, early intervention goals need to focus on increasing appropriate eye gaze skills and joint attention. Such goals could potentially improve intervention outcomes in terms of improving social communication skills in youngsters with ASD.
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17. Westerveld M, van Bysterveldt AK. {{The Home Literacy Environment of Preschool-Age Children with Autism or Down Syndrome}}. {Folia Phoniatr Logop};2017;69(1-2):43-53.
AIMS: This exploratory study investigated if there were differences in the home literacy environment of preschool children on the autism spectrum and preschool children with Down syndrome to determine if the home literacy environment may potentially be associated with strengths or weaknesses in children’s social communication skills. METHODS: A total of 111 parents of preschoolers with identified disabilities completed a home literacy questionnaire. RESULTS: Results indicated that both groups of parents started reading to their children at an early age and owned at least 25 children’s books. However, parents of children with Down syndrome read to their child more often, reported higher child interest in reading, and more frequently played rhyming games with their child. No group differences were found in teaching of letter names, although parents of children with autism reported a higher frequency of pointing out signs/words in the environment and reported their children knew more letter names. Group differences were also found in the relationship between parent behaviours, child interest, and children’s print-related skills. CONCLUSION: This study highlights the influence both parent behaviours and child interest may have on shared book reading practices of parents with their preschool children with disabilities.
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18. Ferman S, Bar-On A. {{Morpho-Orthographic Processing in Children with Autism Spectrum Disorder: The Case of Hebrew Orthography}}. {Folia Phoniatr Logop};2017;69(1-2):54-66.
OBJECTIVE: Most studies on word reading in children with autism spectrum disorder (ASD) focus on graphemic-phonemic decoding and the direct orthographic route. To extend the scope, we investigated morpho-orthographic identification beyond graphemic-phonemic abilities. PATIENTS AND METHODS: The original study included 31 sixth-grade children with ASD and comparison groups of typically developing (TD) children: 23 age-matched children, 15 third-graders, and 17 second-graders. The groups were compared regarding reading of morphologically based Hebrew pointed pseudowords to examine graphemic-phonemic decoding, and unpointed pseudowords to test morpho-orthographic identification. To better focus on morpho-orthographic identification processes, we eventually included only children with a minimum threshold of >/=65% correct in reading pointed pseudowords, thereby excluding 11 children with ASD, 1 TD age-matched child, and 1 TD third-grader. RESULTS: About half of the children with ASD eventually included were as accurate as the TD second-graders in reading unpointed pseudowords, and slow in reading both pointed and unpointed pseudowords. The other half were as accurate as their typical peers in reading unpointed pseudowords, but slightly slower. CONCLUSION: The results highlight the difficulties many Hebrew-reading children with ASD experience in using morpho-orthographic processes beyond their difficulties in using graphemic-phonemic processes, demonstrating effortful (slow) reading. While this study can be considered a pilot investigation, further studies are needed.
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19. Levy S, Duda M, Haber N, Wall DP. {{Sparsifying machine learning models identify stable subsets of predictive features for behavioral detection of autism}}. {Mol Autism};2017;8:65.
Background: Autism spectrum disorder (ASD) diagnosis can be delayed due in part to the time required for administration of standard exams, such as the Autism Diagnostic Observation Schedule (ADOS). Shorter and potentially mobilized approaches would help to alleviate bottlenecks in the healthcare system. Previous work using machine learning suggested that a subset of the behaviors measured by ADOS can achieve clinically acceptable levels of accuracy. Here we expand on this initial work to build sparse models that have higher potential to generalize to the clinical population. Methods: We assembled a collection of score sheets for two ADOS modules, one for children with phrased speech (Module 2; 1319 ASD cases, 70 controls) and the other for children with verbal fluency (Module 3; 2870 ASD cases, 273 controls). We used sparsity/parsimony enforcing regularization techniques in a nested cross validation grid search to select features for 17 unique supervised learning models, encoding missing values as additional indicator features. We augmented our feature sets with gender and age to train minimal and interpretable classifiers capable of robust detection of ASD from non-ASD. Results: By applying 17 unique supervised learning methods across 5 classification families tuned for sparse use of features and to be within 1 standard error of the optimal model, we find reduced sets of 10 and 5 features used in a majority of models. We tested the performance of the most interpretable of these sparse models, including Logistic Regression with L2 regularization or Linear SVM with L1 regularization. We obtained an area under the ROC curve of 0.95 for ADOS Module 3 and 0.93 for ADOS Module 2 with less than or equal to 10 features. Conclusions: The resulting models provide improved stability over previous machine learning efforts to minimize the time complexity of autism detection due to regularization and a small parameter space. These robustness techniques yield classifiers that are sparse, interpretable and that have potential to generalize to alternative modes of autism screening, diagnosis and monitoring, possibly including analysis of short home videos.
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20. Segal O, Kaplan D, Patael S, Kishon-Rabin L. {{Comprehension of « Narrow Focus » by Adolescents in the Autism Spectrum}}. {Folia Phoniatr Logop};2017;69(1-2):67-77.
OBJECTIVE: The study compared the performance of adolescents with autistic spectrum disorder (ASD) to that of age-matched peers with typical development (TD) and cognitive language-matched peers with TD on measures of identification and comprehension of « narrow focus. » PARTICIPANTS: Forty-nine participants, 17 autistic, 17 TD peers matched for age and sex, and 15 TD children matched for expressive vocabulary participated in the study. METHOD: The Hebrew Narrow Focus Test (HNFT) was used. The HNFT includes 3 subtests. The first subtest (A) required identification of the stressed word in the sentence based on psychoacoustic abilities alone. The second (B) and third (C) subtests required understanding the meaning of focused stress in different contexts. In subtest B, the meaning of « narrow focus » was to contrast other possibilities related to the lexical-grammatical role of the stressed word in the sentence, whereas in subtest C, the meaning was to indicate a mistake. RESULTS: ASD participants showed reduced performance compared to peers across all the subtests of the HNFT, but similar performance compared to TD children in subtests A and B and better performance on subtest C. A significant correlation was found between the Raven test for assessing nonverbal intelligence and subtests B and C of the HNFT in the group of adolescents with ASD. CONCLUSIONS: Comprehension of narrow focus in adolescents with ASD who study in a special educational system is related to their cognitive-linguistic abilities and not to the autistic condition by itself or to its severity.
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21. Sun IYI, Varanda CA, Fernandes FD. {{Stimulation of Executive Functions as Part of the Language Intervention Process in Children with Autism Spectrum Disorder}}. {Folia Phoniatr Logop};2017;69(1-2):78-83.
AIMS: Identifying effective methods for stimulating language and communication of children with autism spectrum disorder (ASD) is fundamental to the effective use of available resources to support these children. This pilot study was designed to explore the potential benefits of a program of stimulation of executive functions (SEF) on the functional aspects of language and communication through the assessment of the functional communicative profile and social-cognitive performance. METHODS: Twenty children, aged 5-12 years, with a diagnosis of ASD participated in the study. Two stimulation programs were offered over a 10- to 12-week period as part of the regular services offered to these children through a University’s speech and language therapy outpatient clinic in Sao Paulo, Brazil. Children either received SEF intervention in their home implemented by their parent/s, with close monitoring by the speech-language pathologist (SLP) (group 1), or they received SEF by the SLP during regular speech-language therapy individual sessions (group 2). RESULTS: The findings suggested that there were differences between the children’s pre- and posttest performance. Significantly different performances were observed in the areas of occupation of communication space, proportion of communicative interactivity, and social-cognitive performance. CONCLUSION: The inclusion of activities to stimulate executive function abilities in language intervention for children with ASD warrants further investigation.
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22. Bernas A, Aldenkamp AP, Zinger S. {{Wavelet coherence-based classifier: A resting-state functional MRI study on neurodynamics in adolescents with high-functioning autism}}. {Comput Methods Programs Biomed};2018 (Feb);154:143-151.
BACKGROUND AND OBJECTIVE: The autism spectrum disorder (ASD) diagnosis requires a long and elaborate procedure. Due to the lack of a biomarker, the procedure is subjective and is restricted to evaluating behavior. Several attempts to use functional MRI as an assisting tool (as classifier) have been reported, but they barely reach an accuracy of 80%, and have not usually been replicated or validated with independent datasets. Those attempts have used functional connectivity and structural measurements. There is, nevertheless, evidence that not the topology of networks, but their temporal dynamics is a key feature in ASD. We therefore propose a novel MRI-based ASD biomarker by analyzing temporal brain dynamics in resting-state fMRI. METHODS: We investigate resting-state fMRI data from 2 independent datasets of adolescents: our in-house data (12 ADS, 12 controls), and the Leuven dataset (12 ASD, 18 controls, from Leuven university). Using independent component analysis we obtain relevant socio-executive resting-state networks (RSNs) and their associated time series. Upon these time series we extract wavelet coherence maps. Using these maps, we calculate our dynamics metric: time of in-phase coherence. This novel metric is then used to train classifiers for autism diagnosis. Leave-one-out cross validation is applied for performance evaluation. To assess inter-site robustness, we also train our classifiers on the in-house data, and test them on the Leuven dataset. RESULTS: We distinguished ASD from non-ASD adolescents at 86.7% accuracy (91.7% sensitivity, 83.3% specificity). In the second experiment, using Leuven dataset, we also obtained the classification performance at 86.7% (83.3% sensitivity, and 88.9% specificity). Finally we classified the Leuven dataset, with classifiers trained with our in-house data, resulting in 80% accuracy (100% sensitivity, 66.7% specificity). CONCLUSIONS: This study shows that change in the coherence of temporal neurodynamics is a biomarker of ASD, and wavelet coherence-based classifiers lead to robust and replicable results and could be used as an objective diagnostic tool for ASD.
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23. Nance E, Kambhampati SP, Smith ES, Zhang Z, Zhang F, Singh S, Johnston MV, Rangaramanujam K, Blue ME, Kannan S. {{Dendrimer-mediated delivery of N-acetyl cysteine to microglia in a mouse model of Rett syndrome}}. {J Neuroinflammation};2017 (Dec 19);14(1):252.
BACKGROUND: Rett syndrome (RTT) is a pervasive developmental disorder that is progressive and has no effective cure. Immune dysregulation, oxidative stress, and excess glutamate in the brain mediated by glial dysfunction have been implicated in the pathogenesis and worsening of symptoms of RTT. In this study, we investigated a new nanotherapeutic approach to target glia for attenuation of brain inflammation/injury both in vitro and in vivo using a Mecp2-null mouse model of Rett syndrome. METHODS: To determine whether inflammation and immune dysregulation were potential targets for dendrimer-based therapeutics in RTT, we assessed the immune response of primary glial cells from Mecp2-null and wild-type (WT) mice to LPS. Using dendrimers that intrinsically target activated microglia and astrocytes, we studied N-acetyl cysteine (NAC) and dendrimer-conjugated N-acetyl cysteine (D-NAC) effects on inflammatory cytokines by PCR and multiplex assay in WT vs Mecp2-null glia. Since the cysteine-glutamate antiporter (Xc(-)) is upregulated in Mecp2-null glia when compared to WT, the role of Xc(-) in the uptake of NAC and L-cysteine into the cell was compared to that of D-NAC using BV2 cells in vitro. We then assessed the ability of D-NAC given systemically twice weekly to Mecp2-null mice to improve behavioral phenotype and lifespan. RESULTS: We demonstrated that the mixed glia derived from Mecp2-null mice have an exaggerated inflammatory and oxidative stress response to LPS stimulation when compared to WT glia. Expression of Xc(-) was significantly upregulated in the Mecp2-null glia when compared to WT and was further increased in the presence of LPS stimulation. Unlike NAC, D-NAC bypasses the Xc(-) for cell uptake, increasing intracellular GSH levels while preventing extracellular glutamate release and excitotoxicity. Systemically administered dendrimers were localized in microglia in Mecp2-null mice, but not in age-matched WT littermates. Treatment with D-NAC significantly improved behavioral outcomes in Mecp2-null mice, but not survival. CONCLUSIONS: These results suggest that delivery of drugs using dendrimer nanodevices offers a potential strategy for targeting glia and modulating oxidative stress and immune responses in RTT.
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24. Tuchman R. {{What is the Relationship Between Autism Spectrum Disorders and Epilepsy?}}. {Semin Pediatr Neurol};2017 (Nov);24(4):292-300.
The association of epilepsy and autism spectrum disorders (ASD) is best understood by examining the relationship between social cognition, nonsocial cognition, and epilepsy. The relationship between ASD and epilepsy is bidirectional and is strongly linked to intellectual disability (ID). The risk of developing ASD in children with epilepsy is highest in children with early onset seizures, with a high prevalence in children with infantile spasms. The risk of developing epilepsy in children first diagnosed with ASD is highest in those with ID. The prevalence of seizures in ASD increases with age. When epilepsy and ASD coexist, they share common pathophysiological mechanisms. In epilepsy with and without ID, social-cognitive deficits are an important determinant of neurodevelopmental outcomes. Early recognition of social deficits is an important aspect of the comprehensive management of children with epilepsy. Treating the seizures in individuals with epilepsy and ASD is crucial but interventions that address social-cognitive deficits are necessary to maximize neurodevelopmental outcomes.
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25. Firouzabadi N, Nazariat A, Zomorrodian K. {{DRD3 Ser9Gly Polymorphism and Its Influence on Risperidone Response in Autistic Children}}. {J Pharm Pharm Sci};2017;20(1):445-452.
PURPOSE: Autism, a neuropsychiatric illness, is a complex ailment of mainly indefinite cause. Although precise pathophysiological mechanism is unclear but the role of genetics is undeniable therefore pharmacogenetics may assist to a better management of symptoms. Risperidone is widely used in autism. Considering the significance of dopaminergic system in psychological and neurological diseases and its association with autism, the hypothesis that genetic variant of dopamine receptor (DRD3), Ser9Gly (rs6280), may influence treatment of autism may be assumed. METHOD: In the present study, 56 autistic Persian children within the age range of 2.5 to 14 years were included. Diagnosis of autism was based on DSM-V criteria and the severity degree was measured by ABC-C checklists at base line and after 8 weeks of treatment with risperidone. Based on their scores patients were categorized as responsive and non-responsive groups. DRD3 Ser9Gly (rs6280) was determined by PCR-RFLP. RESULTS: Carriers of Gly allele as well as carriers of Gly/Gly and Ser/Gly genotypes showed significantly better response to risperidone compared with carriers of Ser allele and Ser/Ser genotype (P=0.027; OR= 4.18; 95%CI=1.16-15.03 and P=0.014; OR=6.825; 95%CI=1.36-34.13). CONCLUSION: Our results advocate the possible influence of genetic variation of DRD3 in clinical response to antipsychotics like risperidone in autistic individuals. This article is open to POST-PUBLICATION REVIEW. Registered readers (see « For Readers ») may comment by clicking on ABSTRACT on the issue’s contents page.
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26. Accordino RE, Green IW, Diaz A. {{Autism Spectrum Disorder in Lower Socioeconomic Communities}}. {Ann Glob Health};2017 (Sep – Dec);83(5-6):753-755.
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27. {{Erratum to article « Mid-childhood outcomes of infant siblings at familial high-risk of autism spectrum disorder » Autism Research, 10 (3), 546-557}}. {Autism Res};2017 (Dec);10(12):2056-2057.
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28. Luhrs K, Ward T, Hudac CM, Gerdts J, Stessman HAF, Eichler EE, Bernier RA. {{Associations between Familial Rates of Psychiatric Disorders and De Novo Genetic Mutations in Autism}}. {Autism Res Treat};2017;2017:9371964.
The purpose of this study was to examine the confluence of genetic and familial risk factors in children with Autism Spectrum Disorder (ASD) with distinct de novo genetic events. We hypothesized that gene-disrupting mutations would be associated with reduced rates of familial psychiatric disorders relative to structural mutations. Participants included families of children with ASD in four groups: de novo duplication copy number variations (DUP, n = 62), de novo deletion copy number variations (DEL, n = 74), de novo likely gene-disrupting mutations (LGDM, n = 267), and children without a known genetic etiology (NON, n = 2111). Familial rates of psychiatric disorders were calculated from semistructured interviews. Results indicated overall increased rates of psychiatric disorders in DUP families compared to DEL and LGDM families, specific to paternal psychiatric histories, and particularly evident for depressive disorders. Higher rates of depressive disorders in maternal psychiatric histories were observed overall compared to paternal histories and higher rates of anxiety disorders were observed in paternal histories for LGDM families compared to DUP families. These findings support the notion of an additive contribution of genetic etiology and familial factors are associated with ASD risk and highlight critical need for continued work targeting these relationships.
