1. Avino TA, Barger N, Vargas MV, Carlson EL, Amaral DG, Bauman MD, Schumann CM. {{Neuron numbers increase in the human amygdala from birth to adulthood, but not in autism}}. {Proceedings of the National Academy of Sciences of the United States of America}. 2018.
Remarkably little is known about the postnatal cellular development of the human amygdala. It plays a central role in mediating emotional behavior and has an unusually protracted development well into adulthood, increasing in size by 40% from youth to adulthood. Variation from this typical neurodevelopmental trajectory could have profound implications on normal emotional development. We report the results of a stereological analysis of the number of neurons in amygdala nuclei of 52 human brains ranging from 2 to 48 years of age [24 neurotypical and 28 autism spectrum disorder (ASD)]. In neurotypical development, the number of mature neurons in the basal and accessory basal nuclei increases from childhood to adulthood, coinciding with a decrease of immature neurons within the paralaminar nucleus. Individuals with ASD, in contrast, show an initial excess of amygdala neurons during childhood, followed by a reduction in adulthood across nuclei. We propose that there is a long-term contribution of mature neurons from the paralaminar nucleus to other nuclei of the neurotypical human amygdala and that this growth trajectory may be altered in ASD, potentially underlying the volumetric changes detected in ASD and other neurodevelopmental or neuropsychiatric disorders.
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2. Barlati S, Deste G, Gregorelli M, Vita A. {{Autistic traits in a sample of adult patients with schizophrenia: prevalence and correlates}}. {Psychological medicine}. 2018: 1-9.
BACKGROUND: Schizophrenia and autism spectrum disorder (ASD) are currently conceptualized as distinct disorders. However, the relationship between these two disorders has been revisited in recent years due to evidence that they share phenotypic and genotypic expressions. This study aimed to identify ASD traits in patients with schizophrenia, and to define their demographic, psychopathological, cognitive and functional correlates. METHOD: Seventy-five schizophrenia patients (20 females, mean age 42 +/- 12) were evaluated with the Autism Diagnostic Observation Schedule (ADOS) and the Autism Diagnostic Interview-Revised (ADI-R). Participants were also assessed with clinical, neuropsychological, and psychosocial functioning measures. RESULTS: Of the 75 patients, 47 were negative to all the autism scales administered (ADOS-TOT-NEG), 21 patients were positive to the ADOS Language sub-domain (ADOS-L-POS), 21 patients were positive to the ADOS Reciprocal Social Interaction (RSI) sub-domain (ADOS-RSI-POS), 14 patients were positive to the ADOS Total scale (ADOS-TOT-POS), and nine patients were positive to the ADI-R scale (ADI-R-POS). Demographic (duration of illness), psychopathological (negative symptoms and general psychopathology), and cognitive (working memory and processing speed) differences emerged between schizophrenic patients with and without ASD traits, while no differences in psychosocial functioning were detected. Results of this study indicate the existence, in a sample of patients with a diagnosis of schizophrenia, of a distinct group of subjects with ASD features, characterized by specific symptomatological and cognitive profile. CONCLUSIONS: These findings may contribute to better characterize patients with schizophrenia in order to develop new procedures and therapeutic tools in a more personalized perspective.
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3. Cai Y, Tang X, Chen X, Li X, Wang Y, Bao X, Wang L, Sun D, Zhao J, Xing Y, Warner M, Xu H, Gustafsson JA, Fan X. {{Liver X receptor beta regulates the development of the dentate gyrus and autistic-like behavior in the mouse}}. {Proceedings of the National Academy of Sciences of the United States of America}. 2018; 115(12): E2725-e33.
The dentate gyrus (DG) of the hippocampus is a laminated brain region in which neurogenesis begins during early embryonic development and continues until adulthood. Recent studies have implicated that defects in the neurogenesis of the DG seem to be involved in the genesis of autism spectrum disorders (ASD)-like behaviors. Liver X receptor beta (LXRbeta) has recently emerged as an important transcription factor involved in the development of laminated CNS structures, but little is known about its role in the development of the DG. Here, we show that deletion of the LXRbeta in mice causes hypoplasia in the DG, including abnormalities in the formation of progenitor cells and granule cell differentiation. We also found that expression of Notch1, a central mediator of progenitor cell self-renewal, is reduced in LXRbeta-null mice. In addition, LXRbeta deletion in mice results in autistic-like behaviors, including abnormal social interaction and repetitive behavior. These data reveal a central role for LXRbeta in orchestrating the timely differentiation of neural progenitor cells within the DG, thereby providing a likely explanation for its association with the genesis of autism-related behaviors in LXRbeta-deficient mice.
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4. Castelhano J, Tavares P, Mouga S, Oliveira G, Castelo-Branco M. {{Stimulus dependent neural oscillatory patterns show reliable statistical identification of autism spectrum disorder in a face perceptual decision task}}. {Clinical neurophysiology : official journal of the International Federation of Clinical Neurophysiology}. 2018; 129(5): 981-9.
OBJECTIVE: Electroencephalographic biomarkers have been widely investigated in autism, in the search for diagnostic, prognostic and therapeutic outcome measures. Here we took advantage of the information available in temporal oscillatory patterns evoked by simple perceptual decisions to investigate whether stimulus dependent oscillatory signatures can be used as potential biomarkers in autism spectrum disorder (ASD). METHODS: We studied an extensive set of stimuli (9 categories of faces) and performed data driven classification (Support vector machine, SVM) of ASD vs. Controls with features based on the EEG power responses. We carried out an extensive time-frequency and synchrony analysis of distinct face categories requiring different processing mechanisms in terms of non-holistic vs. holistic processing. RESULTS: We found that the neuronal oscillatory responses of low gamma frequency band, locked to photographic and abstract two-tone (Mooney) face stimulus presentation are decreased in ASD vs. the control group. We also found decreased time-frequency (TF) responses in the beta band in ASD after 350ms, possibly related to motor preparation. On the other hand, synchrony in the 30-45Hz band showed a distinct spatial pattern in ASD. These power changes enabled accurate classification of ASD with an SVM approach. SVM accuracy was approximately 85%. ROC curves showed about 94% AUC (area under the curve). Combination of Mooney and Photographic face stimuli evoked features enabled a better separation between groups, reaching an AUC of 98.6%. CONCLUSION: We identified a relative decrease in EEG responses to face stimuli in ASD in the beta (15-30Hz; >350ms) and gamma (30-45Hz; 55-80Hz; 50-350ms) frequency ranges. These can be used as input of a machine learning approach to separate between groups with high accuracy. SIGNIFICANCE: Future studies can use EEG time-frequency patterns evoked by particular types of faces as a diagnostic biomarker and potentially as outcome measures in therapeutic trials.
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5. Christian MA, Samms-Vaughan M, Lee M, Bressler J, Hessabi M, Grove ML, Shakespeare-Pellington S, Coore Desai C, Reece JA, Loveland KA, Boerwinkle E, Rahbar MH. {{Maternal Exposures Associated with Autism Spectrum Disorder in Jamaican Children}}. {J Autism Dev Disord}. 2018.
Autism spectrum disorder (ASD) is a complex neurodevelopmental disorder with poorly understood etiology. Many maternal exposures during pregnancy and breastfeeding potentially interfere with neurodevelopment. Using data from two age- and sex-matched case-control studies in Jamaica (n = 298 pairs), results of conditional logistic regression analyses suggest that maternal exposures to fever or infection (matched odds ratio (MOR) = 3.12, 95% CI 1.74-5.60), physical trauma (MOR 2.02, 95% CI 1.01-4.05), and oil-based paints (MOR 1.99, 95% CI 1.14-3.46) may be associated with ASD. Additionally, maternal exposure to oil-based paints may modify the relationship between maternal exposure to pesticides and ASD, which deepens our understanding of the association between pesticides and ASD.
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6. Clark CM, Shah-Becker S, Mathew A, Goyal N. {{Aerophagia and subcutaneous emphysema in a patient with Rett syndrome}}. {Ear, nose, & throat journal}. 2018; 97(3): E22-e4.
A patient with Rett syndrome presented to our Emergency Department with extensive subcutaneous emphysema in the cervical region, chest wall, upper extremities, and back. Diagnostic evaluation revealed a mucosal tear in the posterior pharyngeal wall and an abscessed retropharyngeal lymph node, but she had no known history of trauma to account for these findings. This report discusses the occurrence of subcutaneous emphysema in the context of a rare neurodevelopmental disorder and proposes accentuated aerophagia, a sequela of Rett syndrome, as the most likely underlying mechanism.
7. Deffrennes C, De Clercq M, Vallee L, Lemaitre MP. {{[Mathematical learning disability: A multiple origin? Examples of Turner and Fragile X syndromes]}}. {Archives de pediatrie : organe officiel de la Societe francaise de pediatrie}. 2018.
Problems in mathematics are a frequent major complaint in neuropediatric departments, for which there are two explanatory theoretical models: the hypothesis of a genetic and modular origin (with a number sense deficit) and a multidetermined origin. The purpose of this paper is to review the mathematical difficulties described in Turner syndrome and Fragile X syndrome, because a specific mathematical disorder is usually reported in these populations, supporting the existence of a number sense. Analysis of the literature reveals highly variable cognitive phenotypes in these populations, especially regarding mathematical abilities. Performance heterogeneity might be related to different factors such as the abilities needed to perform the task, the variability of definitions, the different tests used in the studies and the heterogeneity of the syndromes themselves. A number sense deficit is usually described in these syndromes, but variable cognitive impairments are also observed. The idea of a modular functioning is then debated and we argue for the necessity of a global cognitive evaluation approach.
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8. Dell’Osso L, Corsi M, Gesi C, Bertelloni CA, Massimetti G, Peroni D, Bonuccelli A, Orsini A, Carmassi C. {{Adult Autism Subthreshold Spectrum (AdAS Spectrum) in parents of pediatric patients with epilepsy: Correlations with post-traumatic stress symptoms}}. {Comprehensive psychiatry}. 2018; 83: 25-30.
Increasing literature has shown the usefulness of a dimensional approach to mental disorders, particularly when exploring subjects exposed to traumatic experiences such as a severe illness in one’s child. Recent evidence suggests an increased vulnerability in subjects with autism spectrum symptoms to develop post-traumatic stress symptoms. The aim of the present study was to evaluate the presence of adult autism subthreshold spectrum in a sample of parents of children with epilepsy and its impact on post-traumatic stress spectrum symptoms in the same study sample. Results revealed noteworthy correlations between post-traumatic stress symptoms and adult autism subthreshold spectrum (AdAS Spectrum) only in the subgroup of the fathers. In particular, were evidenced correlations between AdAS Spectrum domain of rumination and narrow interests and some TALS-SR nuclear domains: reaction to traumatic events, reexperiencing and arousal. These findings corroborate the hypothesis that subthreshold autistic features may influence the possible psychopathological reaction to trauma.
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9. Donaldson AL. {{Treatment in Autism Spectrum Disorder}}. {Semin Speech Lang}. 2018; 39(2): 101-2.
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10. Ewing L, Pellicano E, King H, Lennuyeux-Comnene L, Farran EK, Karmiloff-Smith A, Smith ML. {{Atypical information-use in children with autism spectrum disorder during judgments of child and adult face identity}}. {Developmental neuropsychology}. 2018; 43(4): 370-84.
Unusual patterns of fixation behavior in individuals with autism spectrum disorder during face tasks hint at atypical processing strategies that could contribute to diminished face expertise in this group. Here, we use the Bubbles reverse correlation technique to directly examine face-processing strategies during identity judgments in children with and without autism, and typical adults. Results support a qualitative atypicality in autistic face processing. We identify clear differences not only in the specific features relied upon for face judgments, but also more generally in the extent to which they demonstrate a flexible and adaptive profile of information use.
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11. Ferreira JP, Andrade Toscano CV, Rodrigues AM, Furtado GE, Barros MG, Wanderley RS, Carvalho HM. {{Effects of a Physical Exercise Program (PEP-Aut) on Autistic Children’s Stereotyped Behavior, Metabolic and Physical Activity Profiles, Physical Fitness, and Health-Related Quality of Life: A Study Protocol}}. {Frontiers in public health}. 2018; 6: 47.
Physical exercise has shown positive effects on symptomatology and on the reduction of comorbidities in population with autism spectrum disorder (ASD). However, there is still no consensus about the most appropriate exercise intervention model for children with ASD. The physical exercise program for children with autism (PEP-Aut) protocol designed allow us to (i) examine the multivariate associations between ASD symptoms, metabolic profile, physical activity level, physical fitness, and health-related quality of life of children with ASD; (ii) assess the effects of a 40-week exercise program on all these aspects of children with ASD. The impact of the exercise program will be assessed based on the sequence of the two phases. Phase 1 is a 12-week cross-sectional study assessing the symptomatology, metabolic profile, physical fitness and physical activity levels, socioeconomic status profile, and health-related quality of life of participants. This phase is the baseline of the following phase. Phase 2 is a 48-week intervention study with a 40-week intervention with exercise that will take place in a specialized center for children with ASD in the city of Maceio-Alagoas, Brazil. The primary outcomes will be change in the symptomatic profile and the level of physical activity of children. Secondary outcomes will be anthropometric and metabolic profiles, aerobic function, grip strength, socioeconomic status, and health-related quality of life. The study will provide critical information on the efficacy of exercise for children with ASD and help guide design and delivery of future programs.
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12. Guivarch J, Chatel C, Mortreux J, Missirian C, Philip N, Poinso F. {{An atypical autistic phenotype associated with a 2q13 microdeletion: a case report}}. {Journal of medical case reports}. 2018; 12(1): 79.
BACKGROUND: Autism spectrum disorders are serious neurodevelopmental disorders that affect approximately 1% of the population. These disorders are substantially influenced by genetics. Several recent linkage analyses have examined copy number variations associated with autism risk. Microdeletion of the 2q13 region is considered a pathogenic copy number variation. This microdeletion is involved in developmental delays, congenital heart defects, dysmorphism, and various psychiatric disorders, including autism spectrum disorders. There are only 34 reported cases with this chromosomal deletion, and five cases of autism spectrum disorders have been identified among them. The autistic phenotype associated with this microdeletion has never been described. CASE PRESENTATION: We describe the case of a 44-month-old Caucasian girl with the 2q13 microdeletion and autism spectrum disorders with global development delay but no associated organ anomalies. We examined the autistic phenotype using different workups and observed an atypical phenotype defined by relatively preserved relational competency and imitation abilities. CONCLUSIONS: The main contribution of this case report is the precise description of the autistic phenotype in the case of this deletion. We observed some atypical clinical features that could be markers of this genetic anomaly. We have discussed the pathophysiology of autism associated with this microdeletion and its incomplete penetrance and variable expressivity.
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13. Hannant P. {{Receptive language is associated with visual perception in typically developing children and sensorimotor skills in autism spectrum conditions}}. {Human movement science}. 2018; 58: 297-306.
A number of studies have evidenced marked difficulties in language in autism spectrum conditions (ASC). Studies have also shown that language and word knowledge are associated with the same area of brain that is also responsible for visual perception in typically developing (TD) individuals. However, in ASC, research suggests word meaning is mapped differently, on to situational sensorimotor components within the brain. Furthermore, motor coordination is associated with communication skills. The current study explores whether motor coordination and visual perception are impaired in children with ASC, and whether difficulties in coordination and visual perception correlate with receptive language levels. 36 children took part: 18 with ASC and 18 TD children, matched on age and non-verbal reasoning. Both groups completed the Movement ABC, Beery-Buktenica Developmental Test of Visual-Motor Integration, British Picture Vocabulary Scale and Matrices (WASI). Results showed that ASC children scored significantly lower on receptive language, coordination and visual motor integration than the TD group. In the TD group receptive language significantly correlated with visual perception; in the ASC group receptive language significantly correlated with balance. These results imply that sensorimotor skills are associated with the understanding of language in ASC and thus the relationship between sensorimotor experiences and language warrants further investigation.
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14. He N, Li BM, Li ZX, Wang J, Liu XR, Meng H, Tang B, Bian WJ, Shi YW, Liao WP. {{Few individuals with Lennox-Gastaut syndrome have autism spectrum disorder: a comparison with Dravet syndrome}}. {J Neurodev Disord}. 2018; 10(1): 10.
BACKGROUND: Autism spectrum disorder (ASD) in epilepsy has been a topic of increasing interest, which in general occurs in 15-35% of the patients with epilepsy, more frequently in those with intellectual disability (ID). Lennox-Gastaut syndrome (LGS) and Dravet syndrome (DS) are two typical forms of intractable epileptic encephalopathy associated with ID. We previously reported that ASD was diagnosed in 24.3% of patients with DS, higher in those with profound ID. Given the severe epilepsy and high frequency of ID in LGS, it is necessary to know whether ASD is a common psychomotor co-morbidity of LGS. This study evaluated the autistic behaviors and intelligence in patients with LGS and further compared that between LGS and DS, aiming to understand the complex pathogenesis of epilepsy-ASD-ID triad. METHODS: A total of 50 patients with LGS and 45 patients with DS were enrolled and followed up for at least 3 years. The clinical characteristics were analyzed, and evaluations of ASD and ID were performed. RESULTS: No patients with LGS fully met the diagnostic criteria for ASD, but three of them exhibited more or less autistic behaviors. Majority (86%) of LGS patients presented ID, among which moderate to severe ID was the most common. Early onset age and symptomatic etiology were risk predictors for ID. The prevalence of ASD in LGS was significantly lower than that in DS (0/50 vs. 10/45, p < 0.001), while the prevalence and severity of ID showed no significant difference between the two forms of epileptic encephalopathy. CONCLUSIONS: This study demonstrated a significant difference in the co-morbidity of ASD between LGS and DS, although they had a similar prevalence and severity of ID, refuting the proposal that the prevalence of ASD in epilepsy is accounted for by ID. These findings suggest that the co-morbidity of ASD, ID, and epilepsy may result from multifaceted pathogenic mechanisms. Lien vers le texte intégral (Open Access ou abonnement)
15. Hermawati D, Rahmadi FA, Sumekar TA, Winarni TI. {{Early electronic screen exposure and autistic-like symptoms}}. {Intractable & rare diseases research}. 2018; 7(1): 69-71.
Prevalence autism spectrum disorders (ASD) has been on rise, but many studies suggests over-diagnosed. Currently, children have more access to electronic media on the daily basis than those of previous generation. Some studies suggest that increases screen time is associated with melanopsin-expressing neurons and decreasing gamma-aminobutyric acid (GABA) neurotransmitter, and thus results aberrant behavior, decreased cognitive, and language development. Early exposure of electronic media in early life (< 2 years old) gives an impact on language, but it still inconclusive. We made a study aiming at revealing the impact of early exposure of electronic screen on language development and autistic-like behavior. Results showed that children who spent viewing /= 3 hours per day had language delay, short attention span, and hyperactivity. While, we found that more than a half of children (66.6%) had no parents-child interaction during the exposure, speech delayed and short attention had been reported in all cases, and hyperactivity was found in 66.6% children.
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16. Hudac CM, DesChamps TD, Arnett AB, Cairney BE, Ma R, Webb SJ, Bernier RA. {{Early enhanced processing and delayed habituation to deviance sounds in autism spectrum disorder}}. {Brain and cognition}. 2018; 123: 110-9.
Children with autism spectrum disorder (ASD) exhibit difficulties processing and encoding sensory information in daily life. Cognitive response to environmental change in control individuals is naturally dynamic, meaning it habituates or reduces over time as one becomes accustomed to the deviance. The origin of atypical response to deviance in ASD may relate to differences in this dynamic habituation. The current study of 133 children and young adults with and without ASD examined classic electrophysiological responses (MMN and P3a), as well as temporal patterns of habituation (i.e., N1 and P3a change over time) in response to a passive auditory oddball task. Individuals with ASD showed an overall heightened sensitivity to change as exhibited by greater P3a amplitude to novel sounds. Moreover, youth with ASD showed dynamic ERP differences, including slower attenuation of the N1 response to infrequent tones and the P3a response to novel sounds. Dynamic ERP responses were related to parent ratings of auditory sensory-seeking behaviors, but not general cognition. As the first large-scale study to characterize temporal dynamics of auditory ERPs in ASD, our results provide compelling evidence that heightened response to auditory deviance in ASD is largely driven by early sensitivity and prolonged processing of auditory deviance.
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17. Hutchins TL, Prelock PA. {{Using Story-Based Interventions to Improve Episodic Memory in Autism Spectrum Disorder}}. {Semin Speech Lang}. 2018; 39(2): 125-43.
Episodic memory (EM) and scene construction are critical for organizing and understanding personally experienced events and for developing several aspects of social cognition including self-concept, identity, introspection, future thinking, counterfactual reasoning, theory of mind, self-regulation, flexible problem-solving, and socially adaptive behavior. This article challenges the reader to think differently about EM in children with autism spectrum disorder (ASD), as we expand our understanding of autobiographical memory that requires an ability to travel back in time and re-experience an event. The role of EM in cognitive and behavioral functioning for children with and without ASD is described. The value of story-based interventions such as Social Stories and Comic Strip Conversations for supporting EM is discussed with adaptations recommended to ensure a rich personal recall of an event. By focusing on EM and scene construction, there is potential for increasing the potency of story-based interventions for achieving maximum therapeutic impact.
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18. Kalkbrenner AE, Windham GC, Zheng C, McConnell R, Lee NL, Schauer JJ, Thayer B, Pandey J, Volk HE. {{Air Toxics in Relation to Autism Diagnosis, Phenotype, and Severity in a U.S. Family-Based Study}}. {Environmental health perspectives}. 2018; 126(3): 037004.
BACKGROUND: Previous studies have reported associations of perinatal exposure to air toxics, including some metals and volatile organic compounds, with autism spectrum disorder (ASD). OBJECTIVES: Our goal was to further explore associations of perinatal air toxics with ASD and associated quantitative traits in high-risk multiplex families. METHODS: We included participants of a U.S. family-based study [the Autism Genetic Resource Exchange (AGRE)] who were born between 1994 and 2007 and had address information. We assessed associations between average annual concentrations at birth for each of 155 air toxics from the U.S. EPA emissions-based National-scale Air Toxics Assessment and a) ASD diagnosis (1,540 cases and 477 controls); b) a continuous measure of autism-related traits, the Social Responsiveness Scale (SRS, among 1,272 cases and controls); and c) a measure of autism severity, the Calibrated Severity Score (among 1,380 cases). In addition to the individual’s air toxic level, mixed models (clustering on family) included the family mean air toxic level, birth year, and census covariates, with consideration of the false discovery rate. RESULTS: ASD diagnosis was positively associated with propionaldehyde, methyl tert-butyl ether (MTBE), bromoform, 1,4-dioxane, dibenzofurans, and glycol ethers and was inversely associated with 1,4-dichlorobenzene, 4,4′-methylene diphenyl diisocyanate (MDI), benzidine, and ethyl carbamate (urethane). These associations were robust to adjustment in two-pollutant models. Autism severity was associated positively with carbon disulfide and chlorobenzene, and negatively with 1,4-dichlorobenzene. There were no associations with the SRS. CONCLUSIONS: Some air toxics were associated with ASD risk and severity, including some traffic-related air pollutants and newly-reported associations, but other previously reported associations with metals and volatile organic compounds were not reproducible. https://doi.org/10.1289/EHP1867.
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19. Kliemann D, Richardson H, Anzellotti S, Ayyash D, Haskins AJ, Gabrieli JDE, Saxe RR. {{Cortical responses to dynamic emotional facial expressions generalize across stimuli, and are sensitive to task-relevance, in adults with and without Autism}}. {Cortex}. 2018; 103: 24-43.
Individuals with Autism Spectrum Disorders (ASD) report difficulties extracting meaningful information from dynamic and complex social cues, like facial expressions. The nature and mechanisms of these difficulties remain unclear. Here we tested whether that difficulty can be traced to the pattern of activity in « social brain » regions, when viewing dynamic facial expressions. In two studies, adult participants (male and female) watched brief videos of a range of positive and negative facial expressions, while undergoing functional magnetic resonance imaging (Study 1: ASD n = 16, control n = 21; Study 2: ASD n = 22, control n = 30). Patterns of hemodynamic activity differentiated among facial emotional expressions in left and right superior temporal sulcus, fusiform gyrus, and parts of medial prefrontal cortex. In both control participants and high-functioning individuals with ASD, we observed (i) similar responses to emotional valence that generalized across facial expressions and animated social events; (ii) similar flexibility of responses to emotional valence, when manipulating the task-relevance of perceived emotions; and (iii) similar responses to a range of emotions within valence. Altogether, the data indicate that there was little or no group difference in cortical responses to isolated dynamic emotional facial expressions, as measured with fMRI. Difficulties with real-world social communication and social interaction in ASD may instead reflect differences in initiating and maintaining contingent interactions, or in integrating social information over time or context.
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20. Lee B, Lee J, Cheon JH, Sung HK, Cho SH, Chang GT. {{The Efficacy and Safety of Acupuncture for the Treatment of Children with Autism Spectrum Disorder: A Systematic Review and Meta-Analysis}}. {Evidence-based complementary and alternative medicine : eCAM}. 2018; 2018: 1057539.
Objectives. We aimed to summarize and critically evaluate the available evidence regarding the efficacy and safety of acupuncture for children with autism spectrum disorder (ASD). Methods. We searched 13 databases for studies published up to December 2016. Randomized controlled trials (RCTs) evaluating the efficacy of acupuncture for children with ASD were included. Outcome measures were the overall scores on scales evaluating the core symptoms of ASD and the scores for each symptom, such as social communication ability and skills, stereotypies, language ability, and cognitive function. Effect sizes were presented as mean differences (MD). Results. Twenty-seven RCTs with 1736 participants were included. Acupuncture complementary to behavioral and educational intervention significantly decreased the overall scores on the Childhood Autism Rating Scale (CARS) (MD -8.10, 95% CI -12.80 to -3.40) and the Autism Behavior Checklist (MD -8.92, 95% CI -11.29 to -6.54); however, it was unclear which of the ASD symptoms improved. Acupuncture as a monotherapy also reduced the overall CARS score. The reported adverse events were acceptable. Conclusions. This review suggests that acupuncture may be effective and safe for pediatric ASD. However, it is not conclusive due to the heterogeneity of the acupuncture treatment methods used in the studies.
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21. Lewis GJ, Shakeshaft NG, Plomin R. {{Face Identity Recognition and the Social Difficulties Component of the Autism-Like Phenotype: Evidence for Phenotypic and Genetic Links}}. {J Autism Dev Disord}. 2018.
Autism spectrum disorder (ASD) and autism-like traits are associated with deficits in face memory ability, although it is not yet clear whether this deficit reflects a specific aspect of the ASD/autism-like phenotype. We addressed this issue using a neurotypical sample of adolescent twins (Ncomplete pairs = 782) drawn from the Twins Early Development Study who were assessed on face and object memory performance alongside two core aspects of autism-like traits: (i) difficulties with social behavior/interactions, and (ii) attention to detail. We observed a negative association between face memory ability and difficulties with social behavior/interactions. This association reflected an overlapping genetic etiology: heritable influences acting on face memory ability are associated with the social difficulties aspects of autism-like traits.
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22. Martinez G, Alexandre C, Mam-Lam-Fook C, Bendjemaa N, Gaillard R, Garel P, Dziobek I, Amado I, Krebs MO. {{Corrigendum to « Phenotype continuum between autism and schizophrenia: Evidence from the Movie for the Assessment of the social cognition (MASC) » [Schizophr. Res. 185 (2017) 161-166]}}. {Schizophrenia research}. 2018; 193: 489.
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23. Mazzucchelli TG, Jenkins M, Sofronoff K. {{Building Bridges Triple P: Pilot study of a behavioural family intervention for adolescents with autism spectrum disorder}}. {Res Dev Disabil}. 2018; 76: 46-55.
BACKGROUND: Many parents of adolescents with autism spectrum disorder (ASD) report that they are ill-equipped to support their children’s behaviour, and these youths are known to be at substantially greater risk of emotional or behavioural problems compared to their typically developing peers. There is a need for an efficient and tailored parenting program for parents of adolescents with ASD that includes guidance on how to best support these youths’ development and well-being. AIMS: The current study examined the feasibility of Building Bridges Triple P (BBTP), an eight-week (11.5h) parenting program specifically targeted to the needs of parents of adolescents with a developmental disability. METHODS: A pretest-posttest single group design was used to evaluate the feasibility and acceptability of BBTP, and the potential of the program to have desired intervention effects, with nine parents of adolescents with ASD. RESULTS: After participating in BBTP, parents reported significant reductions in their adolescent’s behaviour problems, increased parenting confidence, decreased lax and overreactive responding, and decreased symptoms of depression and stress. These effects were mostly observed at post-test but were more pronounced at 3-month follow-up. Parents reported that they were satisfied with the content and format of BBTP. CONCLUSIONS: Results provide preliminary support for the feasibility and acceptability of BBTP, and that the program has a number of desired intervention effects.
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24. Meyer AT, Powell PS, Butera N, Klinger MR, Klinger LG. {{Brief Report: Developmental Trajectories of Adaptive Behavior in Children and Adolescents with ASD}}. {J Autism Dev Disord}. 2018.
Research suggests that individuals with autism spectrum disorder (ASD) have significant difficulties with adaptive behavior skills including daily living and functional communication skills. Few studies have examined the developmental trajectory of adaptive behavior across childhood and adolescence. The present study examined longitudinal trajectories of adaptive behavior in a community-based clinic sample of 186 individuals with ASD. The overall pattern indicated an initial increase in adaptive behavior during early childhood followed by a plateau in skills during adolescence for individuals of all IQ groups. Given the importance of adaptive behavior for employment and quality of life, this study emphasizes the importance of targeting adaptive behavior during adolescence to insure continued gains.
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25. Palmer CJ, Lawson RP, Shankar S, Clifford CWG, Rees G. {{Autistic adults show preserved normalisation of sensory responses in gaze processing}}. {Cortex}. 2018; 103: 13-23.
Progress in our understanding of autism spectrum disorder (ASD) has recently been sought by characterising how systematic differences in canonical neural computations employed across the sensory cortex might contribute to clinical symptoms in diverse sensory, cognitive, and social domains. A key proposal is that ASD is characterised by reduced divisive normalisation of sensory responses. This provides a bridge between genetic and molecular evidence for an increased ratio of cortical excitation to inhibition in ASD and the functional characteristics of sensory coding that are relevant for understanding perception and behaviour. Here we tested this hypothesis in the context of gaze processing (i.e., the perception of other people’s direction of gaze), a domain with direct relevance to the core diagnostic features of ASD. We show that reduced divisive normalisation in gaze processing is associated with specific predictions regarding the psychophysical effects of sensory adaptation to gaze direction, and test these predictions in adults with ASD. We report compelling evidence that both divisive normalisation and sensory adaptation occur robustly in adults with ASD in the context of gaze processing. These results have important theoretical implications for defining the types of divisive computations that are likely to be intact or compromised in this condition (e.g., relating to local vs distal control of cortical gain). These results are also a strong testament to the typical sensory coding of gaze direction in ASD, despite the atypical responses to others’ gaze that are a hallmark feature of this diagnosis.
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26. Pokorny FB, Bartl-Pokorny KD, Einspieler C, Zhang D, Vollmann R, Bolte S, Gugatschka M, Schuller BW, Marschik PB. {{Typical vs. atypical: Combining auditory Gestalt perception and acoustic analysis of early vocalisations in Rett syndrome}}. {Res Dev Disabil}. 2018.
BACKGROUND: Early speech-language development of individuals with Rett syndrome (RTT) has been repeatedly characterised by a co-occurrence of apparently typical and atypical vocalisations. AIMS: To describe specific features of this intermittent character of typical versus atypical early RTT-associated vocalisations by combining auditory Gestalt perception and acoustic vocalisation analysis. METHODS AND PROCEDURES: We extracted N=363 (pre-)linguistic vocalisations from home video recordings of an infant later diagnosed with RTT. In a listening experiment, all vocalisations were assessed for (a)typicality by five experts on early human development. Listeners’ auditory concepts of (a)typicality were investigated in context of a comprehensive set of acoustic time-, spectral- and/or energy-related higher-order features extracted from the vocalisations. OUTCOMES AND RESULTS: More than half of the vocalisations were rated as ‘atypical’ by at least one listener. Atypicality was mainly related to the auditory attribute ‘timbre’, and to prosodic, spectral, and voice quality features in the acoustic domain. CONCLUSIONS AND IMPLICATIONS: Knowledge gained in our study shall contribute to the generation of an objective model of early vocalisation atypicality. Such a model might be used for increasing caregivers’ and healthcare professionals’ sensitivity to identify atypical vocalisation patterns, or even for a probabilistic approach to automatically detect RTT based on early vocalisations.
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27. Rieth SR, Haine-Schlagel R, Burgeson M, Searcy K, Dickson KS, Stahmer AC. {{Integrating a Parent-Implemented Blend of Developmental and Behavioral Intervention Strategies into Speech-Language Treatment for Toddlers at Risk for Autism Spectrum Disorder}}. {Semin Speech Lang}. 2018; 39(2): 114-24.
Naturalistic developmental behavioral interventions include an explicit focus on coaching parents to use therapy techniques in daily routines and are considered best practice for young children with autism. Unfortunately, these approaches are not widely used in community settings, possibly due to the clinical expertise and training required. This article presents the work of the Bond, Regulate, Interact, Develop, Guide, Engage (BRIDGE Collaborative), a multidisciplinary group of service providers (including speech-language pathologists), parents, funding agency representatives, and researchers dedicated to improving the lives of young children with autism spectrum disorder and their families. The group selected and adapted a parent coaching naturalistic developmental behavioral intervention specifically for use with toddlers and their families for community implementation. Lessons learned from the implementation process include the importance of therapist background knowledge, the complexity of working with parents of young children, and needed supports for those working closely with parents, including specific engagement strategies and the incorporation of reflective practice.
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28. Robinson A, Elliott R. {{Correction to: Brief Report: An Observational Measure of Empathy for Autism Spectrum: A Preliminary Study of the Development and Reliability of the Client Emotional Processing Scale}}. {J Autism Dev Disord}. 2018.
The original version of this article unfortunately contained a mistake. There was an omission to the original acknowledgement. The acknowledgement should have read: We would also like to express our gratitude to the rater, Mary Hamilton for her expertise and time commitment given freely to this project.
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29. Rodda A, Estes A. {{Beyond Social Skills: Supporting Peer Relationships and Friendships for School-Aged Children with Autism Spectrum Disorder}}. {Semin Speech Lang}. 2018; 39(2): 178-94.
Social impairments are the sine qua non of autism spectrum disorder (ASD). However, children with ASD are capable of forming reciprocal friendships and many people with ASD have a strong desire for friends. Developing and maintaining friendships is associated with many important outcomes, including improved quality of life, mental health, and academic achievement. Children with ASD often attend groups to improve social skills, but strategies for building and maintaining friendships are not consistently addressed or measured following intervention. In this article, our objective is to build an understanding of peer relationships and friendships in school-aged children with ASD and how to best support them. In this article, we describe characteristics of peer relationships and friendships for children with ASD. We discuss current research findings on intervention to improve social skills, peer relationships, and friendships in school-aged children with ASD. Finally, we give suggestions for clinical practice and future research.
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30. Rose DR, Yang H, Serena G, Sturgeon C, Ma B, Careaga M, Hughes HK, Angkustsiri K, Rose M, Hertz-Picciotto I, Van de Water J, Hansen RL, Ravel J, Fasano A, Ashwood P. {{Differential immune responses and microbiota profiles in children with autism spectrum disorders and co-morbid gastrointestinal symptoms}}. {Brain, behavior, and immunity}. 2018.
OBJECTIVES: Many studies have reported the increased presence of gastrointestinal (GI) symptoms in children with autism spectrum disorders (ASD). Altered microbiome profiles, pro-inflammatory responses and impaired intestinal permeability have been observed in children with ASD and co-morbid GI symptoms, yet few studies have compared these findings to ASD children without GI issues or similarly aged typical developing children. The aim of this study was to determine whether there are biological signatures in terms of immune dysfunction and microbiota composition in children with ASD with GI symptoms. METHODS: Children were enrolled in one of four groups: ASD and GI symptoms of irregular bowel habits (ASD(GI)), children with ASD but without current or previous GI symptoms (ASD(NoGI)), typically developing children with GI symptoms (TD(GI)) and typically developing children without current or previous GI symptoms (TD(NoGI)). Peripheral blood mononuclear cells (PBMC) were isolated from the blood, stimulated and assessed for cytokine production, while stool samples were analyzed for microbial composition. RESULTS: Following Toll-Like receptor (TLR)-4 stimulation, the ASD(GI) group produced increased levels of mucosa-relevant cytokines including IL-5, IL-15 and IL-17 compared to ASD(NoGI). The production of the regulatory cytokine TGFbeta1 was decreased in the ASD(GI) group compared with both the ASD(NoGI) and TD(NoGI) groups. Analysis of the microbiome at the family level revealed differences in microbiome composition between ASD and TD children with GI symptoms; furthermore, a predictive metagenome functional content analysis revealed that pathways were differentially represented between ASD and TD subjects, independently of the presence of GI symptoms. The ASD(GI) also showed an over-representation of the gene encoding zonulin, a molecule regulating gut permeability, compared to the other groups. CONCLUSIONS: Overall our findings suggest that children with ASD who experience GI symptoms have an imbalance in their immune response, possibly influenced by or influencing metagenomic changes, and may have a propensity to impaired gut barrier function which may contribute to their symptoms and clinical outcome.
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31. Shepherd D, Csako R, Landon J, Goedeke S, Ty K. {{Brief Report: Parent’s Assessments of Their Care-Related Stress and Child’s ASD Symptoms in Relation to Their child’s Intervention History}}. {J Autism Dev Disord}. 2018.
Parenting a child with autism spectrum disorder (ASD) can be stressful. Understanding parent’s perceptions of their stress and their child’s ASD-related symptoms is important for both the well-being of parent and child and for other reasons, such as intervention adherence and diagnostic accuracy. We report parent (N = 570) ratings of both their ASD Care-Related Stress scores and their child’s symptoms in relation to the child’s exposure to five mainstream ASD interventions. Differences across intervention history in the way parents perceive their child’s symptoms and rate the stressfulness of performing ASD-related parenting duties were found.
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32. Simoes M, Bernardes M, Barros F, Castelo-Branco M. {{Virtual Travel Training for Autism Spectrum Disorder: Proof-of-Concept Interventional Study}}. {JMIR serious games}. 2018; 6(1): e5.
BACKGROUND: Autism Spectrum Disorder (ASD) is a neurodevelopmental disorder characterized by impairments in social interaction and repetitive patterns of behavior, which can lead to deficits in adaptive behavior. In this study, a serious game was developed to train individuals with ASD for an important type of outdoor activity, which is the use of buses as a means of transportation. OBJECTIVE: The aim of this study was to develop a serious game that defines a « safe environment » where the players became familiar with the process of taking a bus and to validate if it could be used effectively to teach bus-taking routines and adaptive procedures to individuals with ASD. METHODS: In the game, players were placed in a three-dimensional city and were submitted to a set of tasks that involved taking buses to reach specific destinations. Participants with ASD (n=10) underwent between 1 to 3 training sessions. Participants with typical development (n=10) were also included in this study for comparison purposes and received 1 control session. RESULTS: We found a statistically significant increase in the measures of knowledge of the process of riding a bus, a reduction in the electrodermal activity (a metric of anxiety) measured inside the bus environments, and a high success rate of their application within the game (93.8%). CONCLUSIONS: The developed game proved to be potentially useful in the context of emerging immersive virtual reality technologies, of which use in therapies and serious games is still in its infancy. Our findings suggest that serious games, using these technologies, can be used effectively in helping people with ASD become more independent in outdoor activities, specifically regarding the use of buses for transportation.
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33. Steinbrenner JRD. {{Fostering Communication in Elementary School Children on the Autism Spectrum Who Are Minimally Verbal}}. {Semin Speech Lang}. 2018; 39(2): 103-13.
Around 30% of elementary school students with autism spectrum disorder (ASD) are considered minimally verbal, yet there is limited research addressing the needs of this group of students. Several recent studies have demonstrated successful improvement of the communication skills of elementary school students with limited verbal skills. Additionally, there are focused intervention practices that are evidence based and may be useful in targeting communication skills for children with ASD who are minimally verbal. This article will review existing information about interventions to target communication skills in elementary school children with ASD who are minimally verbal, identify potential target skills, and provide case examples of how to embed communication interventions in elementary school classroom settings from a pilot intervention study.
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34. Stoodley CJ, D’Mello AM, Ellegood J, Jakkamsetti V, Liu P, Nebel MB, Gibson JM, Kelly E, Meng F, Cano CA, Pascual JM, Mostofsky SH, Lerch JP, Tsai PT. {{Author Correction: Altered cerebellar connectivity in autism and cerebellar-mediated rescue of autism-related behaviors in mice}}. {Nat Neurosci}. 2018.
In the version of this article initially published, the Simons Foundation was missing from the list of sources of support to P.T.T. in the Acknowledgments. The error has been corrected in the HTML and PDF versions of the article.
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35. Timler GR. {{Let’s Talk: Review of Conversation Intervention Approaches for School-Aged Children and Adolescents with Autism Spectrum Disorder}}. {Semin Speech Lang}. 2018; 39(2): 158-65.
Conversation skills are an important intervention focus for verbally fluent school-aged children and adolescents with autism spectrum disorder (ASD). Three sets of approaches for supporting conversation skills are reviewed. Pragmatic language approaches focus on teaching the verbal and nonverbal skills needed to initiate and maintain conversations including strategies for recognizing and repairing communication breakdowns. Social skill approaches focus on similar conversation behaviors, but these behaviors are usually taught for use within specific social tasks such as entering peer groups, maintaining interactions, and resolving conflicts. Peer-focused approaches enlist the support of peers through direct teaching of strategies to engage and maintain conversations with students with ASD (i.e., peer-mediated interventions) or through environmental arrangement strategies to promote interactions between students with and without ASD (i.e., peer networks). Conversation interventions that incorporate strategies from all three sets of approaches are most likely to promote optimal outcomes. These outcomes include opportunities for students with ASD to develop and refine conversation skills with classmates who are more open to interactions with peers of differing abilities.
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36. Tomeny TS, Rankin JA, Baker LK, Eldred SW, Barry TD. {{Discrepancy in perceived social support among typically developing siblings of youth with autism spectrum disorder}}. {Autism}. 2018: 1362361318763973.
Social support can buffer against stressors often associated with having family members with autism spectrum disorder. This study included 112 parents and typically developing siblings of children with autism spectrum disorder. Relations between self-reported typically developing sibling emotional and behavioral problems and discrepancy between social support frequency and importance were examined via polynomial regression with response surface analysis. Typically developing siblings who described social support as frequent and important reported relatively few problems. Typically developing siblings who reported social support as highly important but infrequent exhibited the highest emotional and behavioral difficulties. Thus, typically developing siblings with little support who view support as highly important may be particularly responsive to social support improvement efforts.
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37. Whalon K. {{Enhancing the Reading Development of Learners with Autism Spectrum Disorder}}. {Semin Speech Lang}. 2018; 39(2): 144-57.
Foundational to autism spectrum disorder (ASD) are difficulties developing joint attention, social reciprocity, and language/communication. These challenges place children with ASD at risk for future reading failure. Research suggests that many school-aged children with ASD will learn the decoding skills necessary to effectively read text, but will struggle with comprehension. Yet, the reading profiles of learners with ASD also show great heterogeneity, with some also unable to effectively decode new words. The range of challenges associated with ASD highlights the need for comprehensive literacy/reading instruction that addresses both code- and meaning-focused skills from the earliest grades. This article will provide an overview of effective interventions that support both the code- and meaning-focused skills of learners with ASD. Specific examples of effective instructional practices for learners with ASD will be shared.
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38. Wijnhoven L, Creemers DHM, Vermulst AA, Granic I. {{Prevalence and Risk Factors of Anxiety in a Clinical Dutch Sample of Children with an Autism Spectrum Disorder}}. {Frontiers in psychiatry}. 2018; 9: 50.
Anxiety is highly prevalent in children with an autism spectrum disorder (ASD). However, there is inconsistency in studies investigating the prevalence and risk factors of anxiety in children with ASD. Therefore, the first aim of this study was to give an overview of the prevalence of anxiety symptoms in a clinical Dutch sample of children with ASD. The second aim was to investigate age, gender, ASD subtype, and IQ as potential risk factors for anxiety in this sample. In total, 172 children with ASD (age, 8-15 years) and their parents participated in this study. Specialized services in which children with ASD were recruited were two mental health institutes and one secondary special education school. The findings showed that more than 60% of the participating children with ASD had at least subclinical anxiety symptoms according to children. More than 80% of the children with ASD had at least subclinical anxiety symptoms according to parents. It was found that younger children and girls with ASD had more anxiety symptoms than older children and boys with ASD. Moreover, it was found that children with a higher performance (non-verbal) IQ and lower verbal IQ had more specific phobia symptoms. The findings suggest that in a clinical context, children with ASD have a high risk to have co-occurring anxiety symptoms, especially girls and younger children with ASD. Therefore, early prevention and treatment of anxiety in children with ASD who are most at risk is important.
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39. Zamarbide M, Oaks AW, Pond HL, Adelman JS, Manzini MC. {{Loss of the Intellectual Disability and Autism Gene Cc2d1a and Its Homolog Cc2d1b Differentially Affect Spatial Memory, Anxiety, and Hyperactivity}}. {Front Genet}. 2018; 9: 65.
Hundreds of genes are mutated in non-syndromic intellectual disability (ID) and autism spectrum disorder (ASD), with each gene often involved in only a handful of cases. Such heterogeneity can be daunting, but rare recessive loss of function (LOF) mutations can be a good starting point to provide insight into the mechanisms of neurodevelopmental disease. Biallelic LOF mutations in the signaling scaffold CC2D1A cause a rare form of autosomal recessive ID, sometimes associated with ASD and seizures. In parallel, we recently reported that Cc2d1a-deficient mice present with cognitive and social deficits, hyperactivity and anxiety. In Drosophila, loss of the only ortholog of Cc2d1a, lgd, is embryonically lethal, while in vertebrates, Cc2d1a has a homolog Cc2d1b which appears to be compensating, indicating that Cc2d1a and Cc2d1b have a redundant function in humans and mice. Here, we generate an allelic series of Cc2d1a and Cc2d1b LOF to determine the relative role of these genes during behavioral development. We generated Cc2d1b knockout (KO), Cc2d1a/1b double heterozygous and double KO mice, then performed behavioral studies to analyze learning and memory, social interactions, anxiety, and hyperactivity. We found that Cc2d1a and Cc2d1b have partially overlapping roles. Overall, loss of Cc2d1b is less severe than loss of Cc2d1a, only leading to cognitive deficits, while Cc2d1a/1b double heterozygous animals are similar to Cc2d1a-deficient mice. These results will help us better understand the deficits in individuals with CC2D1A mutations, suggesting that recessive CC2D1B mutations and trans-heterozygous CC2D1A and CC2D1B mutations could also contribute to the genetics of ID.
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40. Zhang L, Warren Z, Swanson A, Weitlauf A, Sarkar N. {{Understanding Performance and Verbal-Communication of Children with ASD in a Collaborative Virtual Environment}}. {J Autism Dev Disord}. 2018.
Collaborative virtual environments (CVEs), which allow naturalistic communication between two or more individuals in a shared virtual environment, hold promise as a tool for measuring and promoting social communication between peers. In this work, a CVE platform and a set of CVE-based collaborative games are designed for children with autism spectrum disorder (ASD). Two groups (7 ASD/TD pairs; 7 TD/TD pairs) participated in a pilot study to establish system feasibility and tolerability. We also designed a methodology for capturing meaningful metrics of social communication. Based on these metrics, we found improved game performance and trends in communication of these participants over time. Although preliminary, these results provide important insights on CVE-based interaction for ASD intervention.
