1. {{Air pollution and autism}}. {Arch Dis Child}. 2019.
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2. Abel EA, Schwichtenberg AJ, Mannin OR, Marceau K. {{Brief Report: A Gene Enrichment Approach Applied to Sleep and Autism}}. {J Autism Dev Disord}. 2019.
Sleep disorders (SD) are common in autism spectrum disorder (ASD), yet relatively little is known about the potential genetic mechanisms involved in SD and ASD comorbidity. The current study begins to fill this gap with a gene enrichment study that (1) identifies risk genes that contribute to both SD and ASD which implicate circadian entrainment, melatonin synthesis, and several genetic syndromes. An over-representation analysis identified several enriched pathways that suggest dopamine and serotonin synapses as potential shared SD and ASD mechanisms. This overlapping gene set and the highlighted biological pathways may serve as a preliminary stepping-stone for new genetic investigations of SD and ASD comorbidity.
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3. Bringmann SA, Maidman PE. {{[Diagnosis of autism spectrum disorder in women with suicidality and characteristics of borderline personality disorder]}}. {Tijdschrift voor psychiatrie}. 2019; 61(2): 121-5.
BACKGROUND: In reaction to two patients diagnosed with borderline personality disorder (bpd) who were admitted for suicidality and whose treatment was stagnating, we hypothesised that these women had an autism spectrum disorder (asd) as an underlying cause for both the persistent suicidality and the characteristics of bpd.
AIM: To investigate 1. whether bpd characteristics and asd can co-occur, 2. what the phenotype of asd in women is, and 3. how suicidality presents itself in women with asd.
METHOD: A search was made in the English, German and Dutch literature up to October 2017.
RESULTS: In approximately 10% of the women diagnosed with bpd there is asd and vice versa. The phenotype of women with asd can be missed and suicide attempts are frequent in asd.
CONCLUSION: In case of atypical presentation and persistent suicidality in women with bpd characteristics, it is relevant to include asd in the differential diagnosis so that treatment can be adjusted accordingly.
4. Cai RY, Richdale AL, Dissanayake C, Uljarevic M. {{How Does Emotion Regulation Strategy Use and Psychological Wellbeing Predict Mood in Adults With and Without Autism Spectrum Disorder? A Naturalistic Assessment}}. {J Autism Dev Disord}. 2019.
The aim of this study was to identify emotion regulation (ER) strategies that most strongly impact momentary mood in a sample of 23 adults with and 19 without autism spectrum disorder (ASD). Participants completed cognitive and behavioural assessments, online questionnaires, and experience sampling methodology questions. In the ASD group, the use of dampening and other-blame reduced mood while savouring and emotional acceptance improved mood. The use of self-blame and avoidance negatively impacted mood only in the non-ASD group, suggesting the use of these two strategies do not reduce mood in individuals with ASD. ER and mental health interventions should capture ER strategy use and aim to decrease maladaptive strategy use and increase adaptive strategy use.
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5. Calhoun SL, Pearl AM, Fernandez-Mendoza J, Durica KC, Mayes SD, Murray MJ. {{Sleep Disturbances Increase the Impact of Working Memory Deficits on Learning Problems in Adolescents with High-Functioning Autism Spectrum Disorder}}. {J Autism Dev Disord}. 2019.
Sleep disturbances (SD) are prevalent in individuals diagnosed with Autism Spectrum Disorder (ASD). Less is known about the effects of SD on cognition and learning in adolescents with high-functioning ASD (HF-ASD). Adolescents with HF-ASD (N = 96) were evaluated for the relationships of SD to working memory and learning problems. Results found SD to modify the relationship between working memory and learning problems. Working memory deficits were associated with learning problems among those with SD, while not among those without SD. SD and working memory deficits should be targeted in interventions for these adolescents with HF-ASD (e.g., cognitive behavior therapy for insomnia, pharmacological treatments). Future studies should examine if improvement in SD reduces the impact of working memory deficits on learning problems.
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6. Easson AK, Fatima Z, McIntosh AR. {{Functional connectivity-based subtypes of individuals with and without autism spectrum disorder}}. {Network neuroscience (Cambridge, Mass)}. 2019; 3(2): 344-62.
Autism spectrum disorder (ASD) is a heterogeneous neurodevelopmental disorder, characterized by impairments in social communication and restricted, repetitive behaviors. Neuroimaging studies have shown complex patterns and functional connectivity (FC) in ASD, with no clear consensus on brain-behavior relationships or shared patterns of FC with typically developing controls. Here, we used a dimensional approach to characterize two distinct clusters of FC patterns across both ASD participants and controls using k-means clustering. Using multivariate statistical analyses, a categorical approach was taken to characterize differences in FC between subtypes and between diagnostic groups. One subtype was defined by increased FC within resting-state networks and decreased FC across networks compared with the other subtype. A separate FC pattern distinguished ASD from controls, particularly within default mode, cingulo-opercular, sensorimotor, and occipital networks. There was no significant interaction between subtypes and diagnostic groups. Finally, a dimensional analysis of FC patterns with behavioral measures of IQ, social responsiveness, and ASD severity showed unique brain-behavior relations in each subtype and a continuum of brain-behavior relations from ASD to controls within one subtype. These results demonstrate that distinct clusters of FC patterns exist across ASD and controls, and that FC subtypes can reveal unique information about brain-behavior relationships.
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7. Goel A, Portera-Cailliau C. {{Autism in the Balance: Elevated E-I Ratio as a Homeostatic Stabilization of Synaptic Drive}}. {Neuron}. 2019; 101(4): 543-5.
In this issue of Neuron, Antoine et al. (2019) find reduced feedforward inhibition in cortical neurons in four genetic mouse models of autism but without evidence of increased spontaneous or sensory-evoked activity.
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8. Hamra GB, Lyall K, Windham GC, Calafat AM, Sjodin A, Volk H, Croen LA. {{Prenatal exposure to endocrine disrupting chemicals in relation to autism spectrum disorder and intellectual disability}}. {Epidemiology (Cambridge, Mass)}. 2019.
BACKGROUND: Exposure to endocrine disruptors is unavoidable. Many such compounds are suspected to impact neurological development of children, but most studies conducted have considered effects of individual chemicals in isolation. Because exposures co-occur, it is important to consider their health impacts in a single regression framework. METHODS: We applied Bayesian statistical tools (including shared mean and mixture priors for 25 unique chemicals) to study independent associations of endocrine disruptor biomarkers with autism spectrum disorder (ASD) (n=491) and intellectual disability (n=155), compared with 373 general population controls, in the Early Markers for Autism study. We measured biomarkers in maternal serum collected and stored from mid-pregnancy and considered them individually or as a class (ie, summed PCBs). We adjusted all models for original matching factors (child sex, month and year of birth), maternal age, maternal race/ethnicity, parity, and maternal education at the time samples were collected. We estimated the change in the odds of ASD or intellectual disability per 1 standard deviation increase in the z-score of measured biomarker concentration for each chemical. RESULTS: Odds of ASD and intellectual disability did not change with increasing concentration for any specific endocrine disruptor. The effect estimates for each chemical were centered on or near an OR of 1.00 in both models where we applied a shared mean or a mixture prior. CONCLUSION: Our mixtures analyses do not suggest an independent relationship with ASD or intellectual disability with any of the 25 chemicals examined together in this mixtures analysis.
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9. Huang TN, Yen TL, Qiu LR, Chuang HC, Lerch JP, Hsueh YP. {{Haploinsufficiency of autism causative gene Tbr1 impairs olfactory discrimination and neuronal activation of the olfactory system in mice}}. {Mol Autism}. 2019; 10: 5.
Background: Autism spectrum disorders (ASD) exhibit two clusters of core symptoms, i.e., social and communication impairment, and repetitive behaviors and sensory abnormalities. Our previous study demonstrated that TBR1, a causative gene of ASD, controls axonal projection and neuronal activation of amygdala and regulates social interaction and vocal communication in a mouse model. Behavioral defects caused by Tbr1 haploinsufficiency can be ameliorated by increasing neural activity via D-cycloserine treatment, an N-methyl-D-aspartate receptor (NMDAR) coagonist. In this report, we investigate the role of TBR1 in regulating olfaction and test whether D-cycloserine can also improve olfactory defects in Tbr1 mutant mice. Methods: We used Tbr1 (+/-) mice as a model to investigate the function of TBR1 in olfactory sensation and discrimination of non-social odors. We employed a behavioral assay to characterize the olfactory defects of Tbr1 (+/-) mice. Magnetic resonance imaging (MRI) and histological analysis were applied to characterize anatomical features. Immunostaining was performed to further analyze differences in expression of TBR1 subfamily members (namely TBR1, TBR2, and TBX21), interneuron populations, and dendritic abnormalities in olfactory bulbs. Finally, C-FOS staining was used to monitor neuronal activation of the olfactory system upon odor stimulation. Results: Tbr1 (+/-) mice exhibited smaller olfactory bulbs and anterior commissures, reduced interneuron populations, and an abnormal dendritic morphology of mitral cells in the olfactory bulbs. Tbr1 haploinsufficiency specifically impaired olfactory discrimination but not olfactory sensation. Neuronal activation upon odorant stimulation was reduced in the glomerular layer of Tbr1 (+/-) olfactory bulbs. Furthermore, although the sizes of piriform and perirhinal cortices were not affected by Tbr1 deficiency, neuronal activation was reduced in these two cortical regions in response to odorant stimulation. These results suggest an impairment of neuronal activation in olfactory bulbs and defective connectivity from olfactory bulbs to the upper olfactory system in Tbr1 (+/-) mice. Systemic administration of D-cycloserine, an NMDAR co-agonist, ameliorated olfactory discrimination in Tbr1 (+/-) mice, suggesting that increased neuronal activity has a beneficial effect on Tbr1 deficiency. Conclusions: Tbr1 regulates neural circuits and activity in the olfactory system to control olfaction. Tbr1 (+/-) mice can serve as a suitable model for revealing how an autism causative gene controls neuronal circuits, neural activity, and autism-related behaviors.
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10. Kong X, Liu J, Chien T, Batalden M, Hirsh DA. {{A Systematic Network of Autism Primary Care Services (SYNAPSE): A Model of Coproduction for the Management of Autism Spectrum Disorder}}. {J Autism Dev Disord}. 2019.
The prevalence of Autism Spectrum Disorder (ASD) is growing rapidly, affecting 1 in 59 children in the United States in 2018. Individuals with ASD currently receive fragmented care that threatens their health and well-being. Challenges of autism care include disconnections between the medical system and school supports, poor care coordination between primary care and specialists, and saturation of neuropsychiatry-based centers’ capacity to care for the ASD population. ASD treatment also lacks of a coordinated system of care for patients’ multi-system comorbidities. Families are calling for an ASD care delivery system to meet their needs and the needs of their children. To serve people with ASD and their medical and other providers, we propose a coordinated approach to care grounded in primary care. We call the model the « Systematic Network of Autism Primary Care Services (SYNAPSE). » We develop the model by applying the frameworks of « coproduction » of care and chronic disease management. In this Commentary we discuss the model’s rationale, underpinnings, and the implications for clinical practice. We advance these ideas to align with policy makers’ recognition of the importance of primary care for ASD, as reflected by the most recent Interagency Autism Coordinating Committee (IACC) meeting at the National Institute of Mental Health.
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11. Maruani A, Dumas G, Beggiato A, Traut N, Peyre H, Cohen-Freoua A, Amsellem F, Elmaleh M, Germanaud D, Launay JM, Bourgeron T, Toro R, Delorme R. {{Morning Plasma Melatonin Differences in Autism: Beyond the Impact of Pineal Gland Volume}}. {Frontiers in psychiatry}. 2019; 10: 11.
While low plasma melatonin, a neuro-hormone synthesized in the pineal gland, has been frequently associated with autism, our understanding of the mechanisms behind it have remained unclear. In this exploratory study, we hypothesized that low melatonin levels in ASD could be linked to a decrease of the pineal gland volume (PGV). PGV estimates with magnetic resonance imaging (MRI) with a voxel-based volumetric measurement method and early morning plasma melatonin levels were evaluated for 215 participants, including 78 individuals with ASD, 90 unaffected relatives, and 47 controls. We first found that both early morning melatonin level and PGV were lower in patients compared to controls. We secondly built a linear model and observed that plasma melatonin was correlated to the group of the participant, but also to the PGV. To further understand the relationship between PGV and melatonin, we generated a normative model of the PGV relationship with melatonin level based on control participant data. We found an effect of PGV on normalized melatonin levels in ASD. Melatonin deficit appeared however more related to the group of the subject. Thus, melatonin variations in ASD could be mainly driven by melatonin pathway dysregulation.
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12. Milner V, McIntosh H, Colvert E, Happe F. {{A Qualitative Exploration of the Female Experience of Autism Spectrum Disorder (ASD)}}. {J Autism Dev Disord}. 2019.
Autism spectrum disorder is thought to be a predominantly male diagnosis, however recent research suggests a smaller gender disparity in prevalence than previously assumed. Accounts of the female experience of autism are important to help reduce likely male-bias in current understanding and recognition of autism. Eighteen autistic females and four mothers of autistic females took part in discussions with a topic guide around diagnosis, impact and coping. A thematic analysis was conducted. Five themes were identified: fitting in the with the norm, potential obstacles for autistic women and girls, negative aspects of autism, the perspective of others, and positive aspects of having autism. We hope that greater understanding of the experiences of autistic females may lead to improved awareness, diagnosis and support for women and girls.
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13. Nadeem A, Ahmad SF, Al-Harbi NO, Attia SM, Bakheet SA, Ibrahim KE, Alqahtani F, Alqinyah M. {{Nrf2 activator, sulforaphane ameliorates autism-like symptoms through suppression of Th17 related signaling and rectification of oxidant-antioxidant imbalance in periphery and brain of BTBR T+tf/J mice}}. {Behav Brain Res}. 2019.
Autism is a neurodevelopmental disease which is characterized by its core behavioral symptoms such as impairment in social interaction and stereotyped repetitive behavior. Th17 immune responses and oxidative stress are reported to be elevated in both human autistic subjects and BTBR T + Itpr3tf/J (BTBR) mice. On the other hand, activation of nuclear factor erythroid 2 related factor (Nrf2), a master transcription factor is essential for the management of anti-inflammatory and antioxidant genes. Sulforaphane activates Nrf2 and thus is considered a potential approach to treat several neurological disorders including autism. In the current work, we used sulforaphane in asocial BTBR mice and its social counterpart C57/BL6 (C57) mice to assess its therapeutic potential and molecular mechanisms (Th17 immune responses, and oxidant-antioxidant balance) through which it acts. Our results demonstrate that BTBR treated with sulforaphane had reduced self-grooming/marble burying behavior, and increased social interaction in three chambered sociability test as compared to untreated BTBR mice. Further, sulforaphane-treated BTBR mice had reduced Th17 immune responses (STAT3, RORC, IL-17 A and IL-23R expression in CD4 + T cells), oxidative stress parameters in neutrophils/cerebellum (NFkB, iNOS, and lipid peroxides). Furthermore, sulforaphane-treated BTBR and C57 mice had upregulated enzymatic antioxidant defenses in neutrophils/cerebellum (SOD, GPx and GR expression and activity). We reason that activation of Nrf2 by sulforaphane corrected Th17 immune dysfunction and oxidant-antioxidant imbalance in periphery and brain in BTBR mice. These mechanisms lead to improvement in autism-like symptoms in BTBR mice.
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14. Rabiee A, Samadi SA, Vasaghi-Gharamaleki B, Hosseini S, Seyedin S, Keyhani M, Mahmoodizadeh A, Ranjbar Kermani F. {{The Cognitive Profile of People with High-Functioning Autism Spectrum Disorders}}. {Behav Sci (Basel)}. 2019; 9(2).
Several studies have examined the cognitive profile of people with high-functioning autism spectrum disorders (ASD) (IQ > 70), and its relationship with the symptoms of ASD and attention deficit hyperactivity disorder (ADHD), using the Wechsler Intelligence Scale for Children-IV (WISC-IV). However, no data exist on the similarities or differences in this profile in less affluent countries. The present study examined the cognitive profile and its relationship with the symptoms of ASD and ADHD in 30 subjects aged 6(-)16 years with high-functioning ASD and compared the results with those of 30 typically developing (TD) subjects. In line with previous research findings, the WISC-IV cognitive profile analysis of subjects with high-functioning ASD showed a good competence in Matrix Reasoning and weaknesses in Comprehension, but the main distinguishing point was the competence in processing speed in both groups. In the present study, the Verbal Comprehension Index correlated negatively with the communication symptoms, and the Working Memory Index correlated positively with the social symptoms in the ASD group. Given the similarities that exist between the results of the present research and previous studies, it may be concluded that there are similarities in the cognitive profile of individuals with ASD.
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15. Vivanti G, Volkmar FR. {{Review: National Guideline for the Assessment and Diagnosis of Autism Spectrum Disorders in Australia (Whitehouse, Evans et al. 2018)}}. {J Autism Dev Disord}. 2019.
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16. Yamashiro A, Curtin S, Vouloumanos A. {{Does an Early Speech Preference Predict Linguistic and Social-Pragmatic Attention in Infants Displaying and Not Displaying Later ASD Symptoms?}}. {J Autism Dev Disord}. 2019.
Human infants show a robust preference for speech over many other sounds, helping them learn language and interact with others. Lacking a preference for speech may underlie some language and social-pragmatic difficulties in children with ASD. But, it’s unclear how an early speech preference supports later language and social-pragmatic abilities. We show that across infants displaying and not displaying later ASD symptoms, a greater speech preference at 9 months is related to increased attention to a person when they speak at 12 months, and better expressive language at 24 months, but is not related to later social-pragmatic attention or outcomes. Understanding how an early speech preference supports language outcomes could inform targeted and individualized interventions for children with ASD.
