1. Alfawaz H, Al-Onazi M, Bukhari SI, Binobead M, Othman N, Algahtani N, Bhat RS, Moubayed NMS, Alzeer HS, El-Ansary A. {{The Independent and Combined Effects of Omega-3 and Vitamin B12 in Ameliorating Propionic Acid Induced Biochemical Features in Juvenile Rats as Rodent Model of Autism}}. {Journal of molecular neuroscience : MN}. 2018; 66(3): 403-13.
Metabolites of proper fatty acids modulate the inflammatory response and are essential for normal brain development; equally, abnormal fatty acid metabolism plays a critical role in the pathology of autism. Currently, dietary supplements are often used to improve the core symptoms of Autism spectrum disorder (ASD). The present study analyzed the effects of orally supplemented omega-3 (omega-3) and vitamin B12 on ameliorating oxidative stress and impaired lipid metabolism in a propionic acid (PPA)-induced rodent model of autism, together with their effect on the gut microbial composition, where great fluctuations in the bacterial number and strains were observed; interestingly, polyunsaturated fatty acids such as omega-3 induced higher growth of the gram-positive bacterium Staphylococcus aureus and decreased the survival rates of Clostridia sp. as well as other enteric bacterial strains. Thirty-five young male western albino rats were divided into five equal groups. The first group served as the control; the second group was given an oral neurotoxic dose of PPA (250 mg/kg body weight/day) for 3 days. The third group received an oral dose of omega-3 (200 mg/kg body weight/day) for 30 days after the 3-day PPA treatment. Group four was given an oral dose of vitamin B12 (16.7 mg/kg/day) for 30 days after PPA treatment. Finally, group five was given a combination of both omega-3 and vitamin B12 at the same dose for the same duration after PPA treatment. Biochemical parameters related to oxidative stress and impaired fatty acid metabolism were investigated in the brain homogenates of each group. The effects of the dietary supplements on the gut microbiota were also observed. The PPA-treated autistic model expressed significantly higher levels of lipid peroxides and 5-lipoxygenase (5-LOX) and significantly less glutathione (GSH), glutathione S-transferase (GST), and cyclooxygenase 2 (COX2) than the control group. However, a remarkable amelioration of most of the impaired markers was observed with oral supplementation with omega-3 and vitamin B12, either alone or in combination. Our results concluded that impairment at various steps of the lipid metabolic pathways may contribute to the development of autism; however, supplementation with omega-3 and vitamin B12 can result in a positive therapeutic effect.
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2. Bottema-Beutel K, Kim SY, Miele DB. {{College Students’ Evaluations and Reasoning About Exclusion of Students with Autism and Learning Disability: Context and Goals may Matter More than Contact}}. {Journal of autism and developmental disorders}. 2018.
This study used mixed-effects logistic regression to examine undergraduates’ (N = 142) evaluations and reasoning about scenarios involving disability-based exclusion. Scenarios varied by disability [autism spectrum disorder (ASD) versus learning disability (LD)], the context of exclusion (classroom versus social), and whether or not a grade was at stake. Participants were more likely to determine exclusion was acceptable if the excluded student had an ASD diagnosis, there was a grade at stake, and it occurred in a classroom. Exclusion was less likely to be considered acceptable in the « no grade » compared to the « grade » conditions for LD students, but remained high in both conditions for autistic students. This study also describes contextual variations in participants’ justifications for their evaluations.
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3. Carter Leno V, Chandler S, White P, Yorke I, Charman T, Pickles A, Simonoff E. {{Alterations in electrophysiological indices of perceptual processing and discrimination are associated with co-occurring emotional and behavioural problems in adolescents with autism spectrum disorder}}. {Molecular autism}. 2018; 9: 50.
Background: Many young people with autism spectrum disorder (ASD) experience emotional and behavioural problems. However, the causes of these co-occurring difficulties are not well understood. Perceptual processing atypicalities are also often reported in individuals with ASD, but how these relate to co-occurring emotional and behavioural problems remains unclear, and few studies have used objective measurement of perceptual processing. Methods: Event-related potentials (ERPs) were recorded in response to both standard and deviant stimuli (which varied in pitch) in an auditory oddball paradigm in adolescents (mean age of 13.56 years, SD = 1.12, range = 11.40-15.70) with ASD (n = 43) with a wide range of IQ (mean IQ of 84.14, SD = 24.24, range 27-129). Response to deviant as compared to standard stimuli (as indexed by the mismatch negativity (MMN)) and response to repeated presentations of standard stimuli (habituation) were measured. Multivariate regression tested the association between neural indices of perceptual processing and co-occurring emotional and behavioural problems. Results: Greater sensitivity to changes in pitch in incoming auditory information (discrimination), as indexed by increased MMN amplitude, was associated with higher levels of parent-rated behaviour problems. MMN amplitude also showed a trend positive correlation with parent-rated sensory hyper-sensitivity. Conversely, greater habituation at the later N2 component was associated with higher levels of emotional problems. Upon more detailed analyses, this appeared to be driven by a selectively greater ERP response to the first (but not the second or third) standard stimuli that followed deviant stimuli. A similar pattern of association was found with other measures of anxiety. All results remained in covariation analyses controlling for age, sex and IQ, although the association between MMN amplitude and behaviour problems became non-significant when controlling for ASD severity. Conclusions: Findings suggest that alterations in mechanisms of perceptual processing and discrimination may be important for understanding co-occurring emotional and behavioural problems in young people with ASD.
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4. Carter Leno V, Vitoratou S, Kent R, Charman T, Chandler S, Jones CR, Happe F, Baird G, Pickles A, Simonoff E. {{Exploring the neurocognitive correlates of challenging behaviours in young people with autism spectrum disorder}}. {Autism : the international journal of research and practice}. 2018: 1362361318769176.
Many young people with autism spectrum disorder display ‘challenging behaviours’, characterised by externalising behaviour and self-injurious behaviours. These behaviours can have a negative impact on a young person’s well-being, family environment and educational achievement. However, the development of effective interventions requires greater knowledge of autism spectrum disorder-specific models of challenging behaviours. Autism spectrum disorder populations are found to demonstrate impairments in different cognitive domains, namely social domains, such as theory of mind and emotion recognition, but also non-social domains such as executive functioning and sensory or perceptual processing. Parent-rated self-injurious behaviour and externalising behaviours, and neurocognitive performance were assessed in a population-derived sample of 100 adolescents with autism spectrum disorder. Structural equation modelling was used to estimate associations between cognitive domains (theory of mind, emotion recognition, executive functioning and perceptual processing) and self-injurious behaviour and externalising behaviours. Poorer theory of mind was associated with increased self-injurious behaviour, whereas poorer perceptual processing was associated with increased externalising behaviours. These associations remained when controlling for language ability. This is the first analysis to examine how a wide range of neurocognitive domains relate to challenging behaviours and suggests specific domains that may be important targets in the development of interventions in adolescents with autism spectrum disorder.
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5. Esler AN, Stronach ST, Jacob S. {{Insistence on Sameness and Broader Autism Phenotype in Simplex Families with Autism Spectrum Disorder}}. {Autism research : official journal of the International Society for Autism Research}. 2018.
Insistence on sameness (IS) in individuals with autism spectrum disorder (ASD) and their families may have utility in identifying meaningful subgroups for studying the pathophysiological and genetic pathways affected in ASD. The primary objectives of the current study were to (1) characterize features of IS in parents of children with ASD and (2) examine their relationships with child IS symptoms. Participants were 2760 families who participated in the Simons Simplex Collection. Levels of parent IS were measured using the Broader Autism Phenotype Questionnaire (BAPQ). A factor analysis generated a BAPQ-IS scale, consisting of a subset of 11 items from the original BAPQ-Rigid scale. Correlations were run to examine the relationship between parent BAP and child IS variables. Correlations were found between parent IS and measures of child IS. Although relationships between parent and child IS features were statistically significant in this large sample, effect sizes were small. Results may be reflective of sample design that only included simplex families, where ASD severity may be predominantly driven by spontaneous mutations and less by common inherited risk from parents. In addition, child and parent measures used may have differentially captured features and severity of IS. Further research is needed on how IS can be accurately measured throughout development and across individuals with ASD and their unaffected family members to facilitate future studies on IS as a possible endophenotype for ASD. Autism Res 2018. (c) 2018 International Society for Autism Research, Wiley Periodicals, Inc. LAY SUMMARY: Previous research has suggested that insistence on sameness (IS) may be a heritable trait in autism spectrum disorder (ASD). The study examined whether children with high levels of IS had parents with IS tendencies. A small relationship was found between parent and child measures of IS. Future research is needed on measurement of insistence on sameness across individuals with and without ASD to further examine this relationship and improve understanding of the genetics of ASD.
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6. Gromis A, Liu K. {{The roles of neighborhood composition and autism prevalence on vaccination exemption pockets: A population-wide study}}. {Vaccine}. 2018.
The number of children entering schools without mandated vaccinations has increased in high-income countries due to the rise of nonmedical exemptions from school vaccination requirements. Herd immunity is threatened when unvaccinated children are concentrated in spatial pockets. Despite the role of vaccine-autism controversy in the current wave of the anti-vaccine movement, we do not know if exemption clusters are associated with local autism rates; it is often assumed that these clusters are merely the result of sociodemographic composition. This study uses data on the number of students with a Personal Belief Exemption reported by schools from 1992 to 2014 and unique data on the locations of children with an autism diagnosis in California to study the correlates of large exemption pockets. Our spatial analysis shows that the prevalence of autism is not associated with the locations of large pockets of vaccination exemptions. Likewise, the spatial distributions of socioeconomic factors and proximity to health care resources have limited roles in explaining these large exemption pockets. Racial/ethnic composition, however, has strong associations with the locations of the large pockets. Our results suggest that community-level interventions are needed to maintain herd immunity as exemption pockets are not merely the result of population composition.
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7. Haraguchi H, Stickley A, Saito A, Takahashi H, Kamio Y. {{Stability of Autistic Traits from 5 to 8 Years of Age Among Children in the General Population}}. {Journal of autism and developmental disorders}. 2018.
Little is known about the across time stability of autistic traits during the transition period from preschool to school age in the general population. The current study compared autistic traits assessed by a mother-reported quantitative measure, the Social Responsiveness Scale, at age 5 and 8 years and examined the intraclass correlation coefficients of scores across the period for 168 Japanese community-based children. Results showed that total and two subdomain-related autistic trait scores remained primarily stable in males and females. This stability was observed for both children with higher and lower autistic traits scores with a possible sex-specific pattern. Our findings suggest that autistic traits in the general population can be reliably assessed using quantitative measures for this age period.
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8. Horder J, Andersson M, Mendez MA, Singh N, Tangen A, Lundberg J, Gee A, Halldin C, Veronese M, Bolte S, Farde L, Sementa T, Cash D, Higgins K, Spain D, Turkheimer F, Mick I, Selvaraj S, Nutt DJ, Lingford-Hughes A, Howes OD, Murphy DG, Borg J. {{GABAA receptor availability is not altered in adults with autism spectrum disorder or in mouse models}}. {Science translational medicine}. 2018; 10(461).
Preliminary studies have suggested that gamma-aminobutyric acid type A (GABAA) receptors, and potentially the GABAA alpha5 subtype, are deficient in autism spectrum disorder (ASD). However, prior studies have been confounded by the effects of medications, and these studies did not compare findings across different species. We measured both total GABAA and GABAA alpha5 receptor availability in two positron emission tomography imaging studies. We used the tracer [(11)C]flumazenil in 15 adults with ASD and in 15 control individuals without ASD and the tracer [(11)C]Ro15-4513 in 12 adults with ASD and in 16 control individuals without ASD. All participants were free of medications. We also performed autoradiography, using the same tracers, in three mouse models of ASD: the Cntnap2 knockout mouse, the Shank3 knockout mouse, and mice carrying a 16p11.2 deletion. We found no differences in GABAA receptor or GABAA alpha5 subunit availability in any brain region of adults with ASD compared to those without ASD. There were no differences in GABAA receptor or GABAA alpha5 subunit availability in any of the three mouse models. However, adults with ASD did display altered performance on a GABA-sensitive perceptual task. Our data suggest that GABAA receptor availability may be normal in adults with ASD, although GABA signaling may be functionally impaired.
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9. Intaite M, Georgescu AL, Noreika V, von Saldern MA, Vogeley K, Falter-Wagner CM. {{Adults with autism spectrum condition have atypical perception of ambiguous figures when bottom-up and top-down interactions are incongruous}}. {Autism : the international journal of research and practice}. 2018: 1362361318782221.
We examined the perception of an ambiguous squares stimulus evoking bistable perception in a sample of 31 individuals with autistic spectrum condition and 22 matched typical adults. The perception of the ambiguous figure was manipulated by adaptation to unambiguous figures and/or by placing the ambiguous figure into a context of unambiguous figures. This resulted in four conditions testing the independent and combined (congruent and incongruent) manipulations of adaptation (bottom-up) and spatial context (top-down) effects. The strength of perception, as measured by perception of the first reported orientation of the ambiguous stimulus, was affected comparably between groups. Nevertheless, the strength of perception, as measured by perceptual durations, was affected differently between groups: the perceptual effect was strongest for the autistic spectrum condition group when combined bottom-up and top-down conditions were congruent. In contrast, the strength of the perceptual effect in response to the same condition in the typical adults group was comparable to the adaptation, but stronger than both the context and the incongruent combined bottom-up and top-down conditions. Furthermore, the context condition was stronger than the incongruent combined bottom-up and top-down conditions for the typical adults group. Thus, our findings support the view of stimulus-specific top-down modulation in autistic spectrum condition.
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10. Kumar M, Mattison R, Baweja R. {{Withdrawal-Emergent Dyskinesia After Acute Discontinuation of Risperidone in a Child With Autism Spectrum Disorder}}. {Journal of clinical psychopharmacology}. 2018.
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11. Lahbib S, Leblond CS, Hamza M, Regnault B, Lemee L, Mathieu A, Jaouadi H, Mkaouar R, Youssef-Turki IB, Belhadj A, Kraoua I, Bourgeron T, Abdelhak S. {{Homozygous 2p11.2 deletion supports the implication of ELMOD3 in hearing loss and reveals the potential association of CAPG with ASD/ID etiology}}. {Journal of applied genetics}. 2018.
Autism spectrum disorder (ASD) is a set of neurodevelopmental conditions characterized by early-onset difficulties in social communication and unusually restricted, repetitive behavior and interests. Parental consanguinity may lead to higher risk of ASD and to more severe clinical presentations in the offspring. Studies of ASD families with high inbreeding enable the identification of inherited variants of this disorder particularly those with an autosomal recessive pattern of inheritance. In our study, using copy number variants (CNV) analysis, we identified a rare homozygous deletion in 2p11.2 region that affects ELMOD3, CAPG, and SH2D6 genes in a boy with ASD, intellectual disability (ID), and hearing impairment (HI). This deletion may reveal a new contiguous deletion syndrome in which ELMOD3, known to be implicated in autosomal recessive deafness underlies the HI of the proband and CAPG, member of actin regulatory proteins involved in cytoskeletal dynamic, an important function for brain development and activity, underlies the ASD/ID phenotype. A possible contribution of SH2D6 gene, as a part of a chimeric gene, to the clinical presentation of the patient is discussed. Our result supports the implication of ELMOD3 in hearing loss and highlights the potential clinical relevance of 2p11.2 deletion in autism and/or intellectual disability.
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12. Modabbernia A, Sandin S, Gross R, Leonard H, Gissler M, Parner ET, Francis R, Carter K, Bresnahan M, Schendel D, Hornig M, Reichenberg A. {{Apgar score and risk of autism}}. {European journal of epidemiology}. 2018.
Low Apgar score has been associated with higher risk for several neurological and psychiatric disorders, including cerebral palsy and intellectual disability. Studies of the association between Apgar score and autism spectrum disorder (ASD) have been inconsistent. We aimed to investigate (1) the association between low Apgar score at 5 min and risk for ASD, and (2) the modifying effects of gestational age and sex on this association in the largest multinational database of ASD. We included prospective data from 5.5 million individuals and over 33,000 cases of ASD from Norway, Sweden, Denmark and Western Australia who were born between 1984 and 2007. We calculated crude and adjusted risk ratios (RR) with 95% confidence intervals (95% CIs) for the associations between low Apgar score and ASD. All analyses for ASD were repeated for autistic disorder (AD). We used interaction terms and stratified analysis to investigate the effects of sex, gestational age, and birth weight on the association. In fully adjusted models, low Apgar scores (1-3) (RR, 1.42; 95% CI, 1.16-1.74), and intermediate Apgar scores (4-6) (RR, 1.50; 95% CI, 1.36-1.65) were associated with a higher RR of ASD than optimal Apgar score (7-10). The point estimates for low (RR, 1.88; 95% CI, 1.41-2.51) and intermediate Apgar score (RR, 1.54; 95% CI, 1.32-1.81) were larger for AD than for ASD. This study suggests that low Apgar score is associated with higher risk of ASD, and in particular AD. We did not observe any major modifying effects of gestational age and sex, although there seems to be substantial confounding by gestational age and birth weight on the observed association.
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13. Morales-Chavez MC, Villarroel-Dorrego M, Salas V. {{Salivary Factors Related to Caries in Children with Autism}}. {The Journal of clinical pediatric dentistry}. 2018.
Many predisposing factors to caries are present in autism, however, it is unlikely that autistic patients exhibit higher caries indexes than the rest of the population. OBJECTIVE: To evaluate salivary factors related to caries in autistic patients. STUDY DESIGN: 34 autistics and 34 controls aged between 4-13 years old were included. Decayed, missing, and filled teeth (DMFT) index and oral hygiene simplified index (IHO-S) were assessed, as well as, pH, total proteins, phosphate, calcium and IgA in saliva. All data were analyzed by chi(2) and Student t tests for independent samples. P values<0.05 were considered statistically significant. RESULTS: Autistic patients showed less caries than controls (pLien vers le texte intégral (Open Access ou abonnement)
14. Oruc I, Shafai F, Iarocci G. {{Link Between Facial Identity and Expression Abilities Suggestive of Origins of Face Impairments in Autism: Support for the Social-Motivation Hypothesis}}. {Psychological science}. 2018: 956797618795471.
Individuals with autism spectrum disorder (ASD) often have difficulties with processing identity and expression in faces. This is at odds with influential models of face processing that propose separate neural pathways for the identity and expression domains. The social-motivation hypothesis of ASD posits a lack of visual experience with faces as the root cause of face impairments in autism. A direct prediction is that identity and expression abilities should be related in ASD, reflecting the common origin of face impairment in this population. We tested adults with and without ASD ( ns = 34) in identity and expression tasks. Our results showed that performance in the two domains was significantly correlated in the ASD group but not in the comparison group. These results suggest that the most likely origin for face impairments in ASD stems from the input stage impacting development of identity and expression domains alike, consistent with the social-motivation hypothesis.
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15. Pirrone A, Wen W, Li S, Baker DH, Milne E. {{Autistic Traits in the Neurotypical Population do not Predict Increased Response Conservativeness in Perceptual Decision Making}}. {Perception}. 2018: 301006618802689.
Recent research has shown that adults and children with autism spectrum disorders have a more conservative decision criterion in perceptual decision making compared to neurotypical individuals, meaning that autistic participants prioritise accuracy over speed of a decision. Here, we test whether autistic traits in the neurotypical population correlate with increased response conservativeness. We employed three different tasks; for two tasks we recruited participants from China ( N = 39) and for one task from the United Kingdom ( N = 37). Our results show that autistic traits in the neurotypical population do not predict variation in response criterion. We also failed to replicate previous work showing a relationship between autistic traits and sensitivity to coherent motion and static orientation. Following the argument proposed by Gregory and Plaisted-Grant, we discuss why perceptual differences between autistic and neurotypical participants do not necessarily predict perceptual differences between neurotypical participants with high and low autistic traits.
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16. Ramezani M, Lotfi Y, Moossavi A, Bakhshi E. {{Auditory brainstem response to speech in children with high functional autism spectrum disorder}}. {Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology}. 2018.
Auditory brainstem response (ABR) provides useful information about the auditory brainstem pathway. However, there is little known about the subcortical speech processing in individuals with autism spectrum disorder (ASD). The aim of the present study was to investigate the subcortical speech processing in children with high functioning ASD. Twenty-eight children with ASD, with a mean age of 14.36 +/- 1.86, and 28 typically developing (TD) children, with a mean age of 14.99 +/- 1.92, were selected from Rofeydeh Rehabilitation Hospital (Tehran, Iran), and speech ABR (sABR) with a 40 ms synthetic /da/ syllable stimulus was recorded. There was no significant difference between the two groups in terms of age and IQ. Latencies of all waves in sABR and duration of V-A complex were significantly longer in children with ASD than in TD children. It was concluded that patients with ASD have deficits in the temporal neural encoding of speech at the brainstem level. Further studies are needed to generalize this result.
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17. Reed P. {{Behavioural flexibility of children with Autism Spectrum Disorder on a card-sorting task with varying task difficulty}}. {Heliyon}. 2018; 4(10): e00842.
Inflexibility is taken to be a key characteristic of Autism Spectrum Disorder (ASD), although it is unclear which aspect of cognitive functioning is critical in this context. The current study investigated task-switching problems and inflexibility with a group of children with ASD, and a mental-aged matched control group. Participants (n = 50; mean age = 7 years) completed two card-sorting tasks, which involved learning to sort by either two or three possible dimensions, and then the sorting rule was switched although the number of dimensions required to sort the cards remained the same. Following the sorting rule change, the ASD group made more errors compared to controls. Errors were also related to task type (two or three dimensions), but this was not found to interact with ASD. If poor performance were solely dependent on executive function (working memory) problems in ASD, then a steeper decrease in performance with an increase in task difficulty for one group, compared to another group, would be expected. The current results suggest that task difficulty is an aspect of importance in set-shifting, but shifting is not differentially affected by this component.
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18. Rotharmel M, Szymoniak F, Pollet C, Beherec L, Quesada P, Leclerc S, Belhaine A, Rosier A, Guillin O. {{Eleven Years of Clozapine Experience in Autism Spectrum Disorder: Efficacy and Tolerance}}. {Journal of clinical psychopharmacology}. 2018.
BACKGROUND: Autism spectrum disorders (ASDs) are neurodevelopmental disorders that comprise wide graduated clinical expressions but similar core symptoms (repetitive, stereotyped behavior, and social communication disabilities). Many patients with ASD have disruptive behaviors like aggressiveness, temper tantrums, or self-injury that interfere with their socializations, their learning abilities, and their quality of life. These behaviors represent a common target for pharmacology. Beherec et al (J Clin Psychopharmacol. 2011;31:341-344) (first cohort), showed the efficacy of clozapine on disruptive behaviors in 6 patients with autism who were older than 16 years. The aim of this study was to assess the efficacy and tolerance of clozapine in a new cohort and the long-term effect in our first cohort. PROCEDURES: Concerning the replication study, we conducted a retrospective study of the changes of aggressive behaviors for all patients with ASD who were treated with clozapine from 2011 to 2017. Disruptive behaviors were monitored from 1 to 6 months before and after the initiation of the clozapine. RESULTS: All the patients of the first cohort were still on clozapine after an average of 11 + 2.6 years, with the same efficacy and no serious adverse effect was noted. For the replication study, 13 patients were included. Clozapine resulted in a significant decrease in the number of the days with aggression (65.2% + 32.6%). Once again, no serious adverse effect was notified. All the patients had a better quality of life. CONCLUSIONS: Our study confirms that clozapine could be an efficacious and well-tolerated treatment for ASD patients with disruptive behaviors who do not respond to other antipsychotics on the long term.
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19. Ruble L, McGrew JH, Snell-Rood C, Adams M, Kleinert H. {{Adapting COMPASS for youth with ASD to improve transition outcomes using implementation science}}. {School psychology quarterly : the official journal of the Division of School Psychology, American Psychological Association}. 2018.
Implementation science provides guidance on adapting existing evidence based practices (EBPs) by incorporating implementation concerns from the start. Focus-group methodology was used to understand barriers and facilitators of transition planning and implementation for students with autism spectrum disorder (ASD) who often experience disparate postsecondary outcomes compared to peers. Results were used to modify an evidence-based consultation intervention originally applied to young students with ASD, called the Collaborative Model for Promoting Competence and Success (COMPASS; Ruble, Dalrymple, & McGrew, 2012). Because consultation is a multilevel EBP, two existing implementation science frameworks were used to guide adaptation: the Framework for Evidence Based Implementation and Intervention Practices (Dunst & Trivette, 2012) and the Consolidated Framework for Implementation Research (Damschroder et al., 2009). The purpose of this article is to describe a process of adaptation of COMPASS that may be useful for other implementation science studies of consultation interventions, teacher acceptability, feasibility, and burden, and parent/student satisfaction with the adapted intervention. (PsycINFO Database Record (c) 2018 APA, all rights reserved).
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20. Sakaguchi Y, Uehara T, Suzuki H, Sakamoto Y, Fujiwara M, Kosaki K, Takenouchi T. {{Haploinsufficiency of NCOR1 associated with autism spectrum disorder, scoliosis, and abnormal palatogenesis}}. {American journal of medical genetics Part A}. 2018.
NCOR1 (nuclear receptor corepressor 1) is a transcriptional coregulatory protein that regulates the balance between histone acetylation and histone deacetylation. NCOR1 is listed as one of the 3,230 dose-sensitive genes which very rarely show truncating mutations in the pediatric population without severe diseases, even in a heterozygous state. In a large cohort study of intellectual disability/autism spectrum disorder, splicing mutations were identified in two individuals, however, the truncating effects of these splicing mutations have not been examined at the transcription level. We describe a 3-year-old girl who had behavior consistent with autism spectrum disorder, a bifid uvula, and early-onset scoliosis. Trio exome analysis showed a de novo heterozygous mutation at the splice donor site in exon 19 of NCOR1, c.2182 + 1G > T (NM_00190440.1). Reverse transcription polymerase chain reaction assay confirmed that the splicing mutation results in skipping of exon 19, a shift in the reading frame and then to nonsense-mediated mRNA decay. This patient represents the first patient who has had unequivocal documentation of haploinsufficient for the NCOR1 gene. Based on our observations, we conclude that NCOR1 is indeed a human disease-causing gene. We further suggest that bifid uvula, a micro form of cleft palate, may well be causally related to de novo NCOR1 haploinsufficiency, in that a previously reported deletion mapping study of atypical Smith-Magenis syndrome patients with large deletions and cleft palate identified that NCOR1, the only loss-of-function-intolerant gene within the region, is located in the smallest region of overlap.
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21. Utzerath C, Schmits IC, Buitelaar J, de Lange FP. {{Adolescents with autism show typical fMRI repetition suppression, but atypical surprise response}}. {Cortex; a journal devoted to the study of the nervous system and behavior}. 2018; 109: 25-34.
Recent theoretical frameworks have hypothesized that autism spectrum disorder (ASD) may be marked by an altered balance between sensory inputs and prior knowledge-the so-called hypoprior hypothesis. Yet evidence regarding such an altered balance is mixed. Here, we aimed to test this hypothesis within the domain of visual perception, by examining how neural activity in the visual system was modulated by stimulus repetition and stimulus expectation in healthy and ASD participants. We presented 22 adolescents with ASD and 22 typically developing (TD) adolescents with pairs of object stimuli, while measuring brain activity using functional magnetic resonance imaging (fMRI). Stimulus pairs could be stimulus repetitions or not and could be expected or not. We examined neural activity in early (V1) and object-selective (LOC) visual cortex. Both ASD and TD individuals showed robust and equal repetition suppression in LOC. By contrast, ASD and TD groups showed a different response to expected versus unexpected stimuli, specifically in V1. Thereby, our results suggest that while the more automatic modulation of activity by repetition is unaffected in ASD, there is some evidence that the balance between sensory evidence and prior knowledge may indeed be altered in early visual cortex of ASD.
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22. Vineeth VS, Dutta UR, Tallapaka K, Das Bhowmik A, Dalal A. {{Whole exome sequencing identifies a novel 5Mb deletion at 14q12 region in a patient with global developmental delay, microcephaly and seizures}}. {Gene}. 2018; 673: 56-60.
Rett syndrome is a neurodevelopmental disorder affecting the nervous, musculoskeletal and gastroenteric systems. Affected individuals show normal neonatal development for 6-18months followed by sudden growth arrest, psychomotor retardation and a broad spectrum of clinical features. Sequence variants in MECP2 gene have been identified as the major genetic etiology accounting for 90-95% of patients. Apart from MECP2, pathogenic sequence variants and copy number variants of FOXG1 gene lead to congenital type of Rett syndrome which is a more severe form and characterised by absence of early normal development as seen in classical Rett syndrome. In this report we describe a female child with global developmental delay, microcephaly and myoclonic seizures harbouring a 5Mb deletion in 14q12 locus resulting in deletion of single copy of brain specific genes FOXG1, PRKD1 and NOVA1. Whole exome sequencing ruled out any possible role of other pathogenic single nucleotide variants and/or indels as the etiology for the observed phenotype. However, copy number variation analysis from the whole exome data detected a ~ 5Mb microdeletion at the long arm of chromosome 14q12 region. The deletion was confirmed through array Comparative Genomic Hybridization and validated by quantitative PCR. Further, parents were analysed for mosaicism through metaphase Fluorescence in-situ Hybridisation. Our report broadens the phenotype of atypical Rett syndrome and reiterates the role of exome sequencing not only in detection of point mutation/small indels but also for detection of large deletions/duplication in coding regions.
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23. Vogel D, Falter-Wagner CM, Schoofs T, Kramer K, Kupke C, Vogeley K. {{Interrupted Time Experience in Autism Spectrum Disorder: Empirical Evidence from Content Analysis}}. {Journal of autism and developmental disorders}. 2018.
Although the experience of time is of central relevance for psychopathology, qualitative approaches to study the inner experience of time have been largely neglected in autism research. We present results from qualitative data acquired from 26 adults with high functioning autism spectrum disorder (ASD). Employing inductive content analysis we identified a distinct pattern of interrupted time experience in ASD. Individuals with ASD seemed to implement structured and routine behavior by future planning to guarantee that the present passed uninterrupted. We reason that the success of corresponding compensatory mechanisms determines the development of distress and noticeable symptoms. Considering recent theories on Bayesian perceptual inference we relate the syndrome of interrupted time experience to the putative neuronal mechanisms underlying time experience.
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24. Wimberley T, Agerbo E, Pedersen CB, Dalsgaard S, Horsdal HT, Mortensen PB, Thompson WK, Kohler-Forsberg O, Yolken RH. {{Otitis media, antibiotics, and risk of autism spectrum disorder}}. {Autism research : official journal of the International Society for Autism Research}. 2018.
Otitis media infections and antibiotic treatment have been linked to the risk of developing autism spectrum disorder. Broad-spectrum antibiotics may alter the composition of the gut flora microbiota, which is hypothesized to be involved in the regulation of the immune system. This study examines the interplay among otitis media, antibiotics, and the subsequent risk of developing autism. Based on the entire Danish population, 780,547 children were followed from birth (January 1, 1997 to December 31, 2008) until December 31, 2012. We calculated adjusted hazard ratios and absolute risks of autism with 95% confidence intervals (CIs) related to previous otitis media diagnoses and antibiotic prescriptions redeemed at Danish pharmacies. The absolute risk of autism before age 10 was increased among children with otitis media (1.2% for females and 3.3% for males) and in children who had redeemed an antibiotic prescription (0.6% and 2.7% for females and males) compared to children without a history of otitis media and antibiotics usage (0.4% for females and 1.9% for males). Similarly, we found an increased hazard ratio of autism associated with otitis media (1.83 95% CI 1.71-1.95) and antibiotics usage (1.29 95% CI 1.17-1.43). A history of both otitis media and antibiotic treatment did not further increase the risk of autism. Although the risk of autism was associated with otitis media and treatment with antibiotics, we found little evidence of a synergistic effect between otitis media infections and treatment with antibiotics. LAY SUMMARY: We investigated whether otitis media ear infections and antibiotic treatment were associated with autism spectrum disorder. Autism was more common in children who had had an otitis media infection or who had been treated with antibiotics. Given the observational nature of our data, our study cannot be used to conclude that otitis media or use of antibiotics cause autism, as our findings may be subject to unobserved confounding.
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25. Young A, Nicholas DB, Chamberlain SP, Suapa N, Gale N, Bailey AJ. {{Exploring and building autism service capacity in rural and remote regions: Participatory action research in rural Alberta and British Columbia, Canada}}. {Autism : the international journal of research and practice}. 2018: 1362361318801340.
Based in participatory action research, this project had the aim of building capacity in treatment and support for individuals and families impacted by autism spectrum disorder in remote and rural communities of Canada. Communities were selected based on their rurality and willingness to engage in change efforts for enhanced service delivery within their region. Fifteen discussion groups with key stakeholders were convened in seven communities with ~200 community stakeholders. Based on analyses of these data from the stakeholders, themes were distilled through interpretive description, which in turn were presented to community stakeholders for reflection and collective action. Findings indicate broad thematic domains consisting of: insufficient services, protective factors in community, change efforts via collectivity within community, limitations and benefits of residing in rural communities relative to care associated with autism spectrum disorder, a sense of « community » in rural contexts, and engaging in focused dialogue as a pathway to advancement. Opportunities for building capacity for support in autism spectrum disorder emerged within intersecting layers of leadership, contextual factors, and community collaboration. Consistent with participatory action research principles, emerging local knowledge was supported with strategies for improved autism spectrum disorder service development.
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26. Yurika NU, Hiroyuki Y, Hiroki S, Wakaba E, Mitsugu U, Chieko N, Shigeo K. {{Attachment Disorder and Early Media Exposure: Neurobehavioral symptoms mimicking autism spectrum disorder}}. {The journal of medical investigation : JMI}. 2018; 65(3.4): 280-2.
Many studies have reported many adverse effects of children’s use of media. These effects include reduced cognitive development and hyperactivity and attention disorders. Although it has been recommended that child be kept away from the media during the early developmental period, many modern parents use the media as a way to calm their children. Consequently, these children lack the opportunity to form selective attachments by reduced social engagement. These children’s symptoms occasionally mimic autism spectrum disorder (ASD). However, few studies have examined the symptoms children develop with early media exposure. Here, we present a boy exposed to the media during his early development who was diagnosed with attachment disorder. He was unable to make eye contact and was hyperactive and had delayed language development, like children with ASD. His symptoms improved dramatically after he was prevented from using all media and encouraged to play in other ways. After this treatment, he would make eye contact, and talked about playing with their parents. Simply avoiding the media and playing with others can change the behavior of a child with ASD-like symptoms. It is important to understand the symptoms caused by attachment disorder and early media exposure. J. Med. Invest. 65:280-282, August, 2018.
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27. Zheng Z, Zheng P, Zou X. {{Association Between Schizophrenia and Autism Spectrum Disorder: A Systematic Review and Meta-Analysis}}. {Autism research : official journal of the International Society for Autism Research}. 2018.
Schizophrenia and autism spectrum disorder (ASD) are significant public health problems. Scientists have recently explored the association between schizophrenia and ASD, but the findings are inconsistent. Thus, we conducted a systematic review and meta-analysis of epidemiological studies to examine the association between schizophrenia and ASD. PubMed, Embase, and the Cochrane Library were used for literature searches to identify eligible studies published in English before October 2, 2017. Relevant studies estimating the association between schizophrenia and ASD were included. The meta-analysis of the prevalence of schizophrenia in individuals with ASD encompassed 1,950,113 participants and 14,945 individuals with ASD. A random-effects model was chosen to synthesize the effect sizes of individual studies. The prevalence of schizophrenia was significantly higher in individuals with ASD than in controls (odds ratio = 3.55, 95% confidence interval: 2.08-6.05, P < .001). Both sensitivity analysis and publication bias testing revealed that the findings were robust. The systematic review of the prevalence of ASD in individuals with schizophrenia encompassed 930 participants. The prevalence of ASD in individuals with schizophrenia ranged from 3.4 to 52%. The systematic review and meta-analysis showed a significant association between schizophrenia and ASD. (c) 2018 International Society for Autism Research, Wiley Periodicals, Inc. LAY SUMMARY: This systematic review and meta-analysis explored the association between schizophrenia and ASD. We found that the prevalence of schizophrenia was significantly higher in individuals with ASD than in controls and the prevalence of ASD in individuals with schizophrenia ranged from 3.4 to 52%. A comprehensive estimation of schizophrenia and ASD has important implications for the diagnosis, treatment, prognosis, and development of a fundamental understanding of these disorders. Lien vers le texte intégral (Open Access ou abonnement)
