1. Cotrina ML, Ferreiras S, Schneider P. {{High prevalence of self-reported autism spectrum disorder in the Propionic Acidemia Registry}}. {JIMD Rep};2020 (Jan);51(1):70-75.
Propionic Acidemia (PA) is characterized by the accumulation of propionic acid (PPA), its toxic derivatives, and ammonia. The disease causes multiorgan damage, especially in heart, pancreas, and brain; seizures and intellectual disability are often described. Some PA children also show autism spectrum disorders (ASD). In this study, we have compiled data from 62 individuals from the Propionic Acidemia International Patient Registry and compared it to the published literature on the prevalence of autism in PA. The PA registry shows a significant proportion of ASD diagnoses that is consistent with the combined prevalence reported in the literature. It also shows that ASD in PA is gender balanced and it is diagnosed at older ages (median age 8 years) than in the national registry for autism (median age 4.3 years), which raises the possibility, among others, of PA specific risk factors affecting the natural history of ASD. Data from patient registries provide valuable information on studying the mechanisms involved in a rare disease, although more outreach effort must be done to increase participation and consistency in data entry.
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2. Gumusoglu SB, Hing BWQ, Chilukuri ASS, Dewitt JJ, Scroggins SM, Stevens HE. {{Chronic maternal interleukin-17 and autism-related cortical gene expression, neurobiology, and behavior}}. {Neuropsychopharmacology};2020 (Feb 19)
Chronic inflammation during pregnancy (e.g., preeclampsia, diabetes) is linked to increased risk for offspring neurodevelopmental disorders such as autism spectrum disorder (ASD). However, mediators of such exposures that could be targeted with maternal intervention are unclear, as few chronic gestational inflammation models have been tested. One potential mediator is interleukin-17 (IL-17), a pro-inflammatory cytokine implicated in neurodevelopmental disorders and gestational disease. To test chronic maternal IL-17 impacts on offspring, C57BL/6J dams were administered IL-17A continuously throughout pregnancy. Offspring were assessed for body weight; cortical volume, gene expression, and cellular composition; and adult behavior. IL-17A-condition offspring exhibited decreased somatic and cortical size at embryonic day 18 (E18) and as adults. mRNA sequencing of E18 cortex revealed 320 differentially expressed genes in males, but none in females. These were significantly enriched for ASD (Simons Foundation Autism Research Initiative), synaptic, and cell cycle genes. By adulthood, neocortical glial cell density and gene expression were decreased, while GABAergic synaptic gene expression was increased in males. Furthermore, IL-17A-condition male but not female offspring exhibited reduced anxiety-like behavior. Social approach deficits in males were negatively correlated with neocortical GABAergic synaptic gene expression. Chronic gestational IL-17A was sufficient to cause ASD-like phenotypes early and persistently in male offspring. This echoes the male bias, altered cortical development, and behavioral findings in ASD, suggesting that chronic maternal IL-17 contributes to offspring ASD pathogenesis. Furthermore, the trajectory from embryonically dysregulated synaptic and cell cycle genes to disrupted adult glia, inhibitory synapses, and behavior suggests a mechanism for chronic maternal IL-17 effects on offspring.
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3. Haigh SM, Keller TA, Minshew NJ, Eack SM. {{Reduced White Matter Integrity and Deficits in Neuropsychological Functioning in Adults With Autism Spectrum Disorder}}. {Autism Res};2020 (Feb 19)
Autism spectrum disorder (ASD) is currently viewed as a disorder of cortical systems connectivity, with a heavy emphasis being on the structural integrity of white matter tracts. However, the majority of the literature to date has focused on children with ASD. Understanding the integrity of white matter tracts in adults may help reveal the nature of ASD pathology in adulthood and the potential contributors to cognitive impairment. This study examined white matter water diffusion using diffusion tensor imaging in relation to neuropsychological measures of cognition in a sample of 45 adults with ASD compared to 20 age, gender, and full-scale-IQ-matched healthy volunteers. Tract-based spatial statistics were used to assess differences in diffusion along white matter tracts between groups using permutation testing. The following neuropsychological measures of cognition were assessed: processing speed, attention vigilance, working memory, verbal learning, visual learning, reasoning and problem solving, and social cognition. Results indicated that fractional anisotropy (FA) was significantly reduced in adults with ASD in the anterior thalamic radiation (P = 0.022) and the right cingulum (P = 0.008). All neuropsychological measures were worse in the ASD group, but none of the measures significantly correlated with reduced FA in either tract in the adults with ASD or in the healthy volunteers. Together, this indicates that the tracts that are the most impacted in autism may not be (at least directly) responsible for the behavioral deficits in ASD. LAY SUMMARY: White matter tracts are the data cables in the brain that efficiently transfer information, and damage to these tracts could be the cause for the abnormal behaviors that are associated with autism. We found that two long-range tracts (the anterior thalamic radiation and the cingulum) were both impaired in autism but were not directly related to the impairments in behavior. This suggests that the abnormal tracts and behavior are the effects of another underlying mechanism. (c) 2020 International Society for Autism Research, Wiley Periodicals, Inc.
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4. Larijani B, Foroughi Heravani N, Alavi-Moghadam S, Goodarzi P, Rezaei-Tavirani M, Payab M, Gholami M, Razi F, Arjmand B. {{Cell Therapy Targets for Autism Spectrum Disorders: Hopes, Challenges and Future Directions}}. {Adv Exp Med Biol};2020 (Feb 19)
Autism spectrum disorders as a group of pediatric neurodevelopmental diseases is a crucial part of the worldwide disabilities which have influence in communication skills, social interactions, and ability to understand the concepts. The precise pathophysiology of autism spectrum disorders due to the abundance of involved mechanisms is unknown. Some of these involved mechanisms are related to genetic factors, chronic neuro inflammation, mitochondrial dysfunction, oxidative stress, immune dysregulation, hormonal imbalance, and environmental factors. Current main treatments for autisms are behavioral, nutritional and medical therapies, however there is not definitive treatment approach. Therein, more novel therapies are still required to improve the symptoms. Several preclinical and clinical evidence were shown that stem cell therapy is a potential treatment option for autism spectrum disorders individuals. Considering the significant factors which can affect the outcome of stem cell therapeutic effects including stem cell types, route and dosage of administration, and mechanism of activity along with selecting best animal models can be very important in performing clinical trials.
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5. Oulhote Y, Lanphear B, Braun JM, Webster GM, Arbuckle TE, Etzel T, Forget-Dubois N, Seguin JR, Bouchard MF, MacFarlane A, Ouellet E, Fraser W, Muckle G. {{Gestational Exposures to Phthalates and Folic Acid, and Autistic Traits in Canadian Children}}. {Environ Health Perspect};2020 (Feb);128(2):27004.
BACKGROUND: The etiology of autism spectrum disorder is poorly understood. Few studies have investigated the link between endocrine-disrupting chemicals and autistic traits. We examined the relationship between gestational phthalates and autistic traits in 3- to 4-y-old Canadian children. We also investigated potential effect modification by sex and folic acid supplementation. METHODS: We enrolled 2,001 women>18 years of age during the first trimester of pregnancy between 2008 and 2011 from 10 cities in Canada. At 3-4 years of age, 610 children underwent neuropsychological assessments including the Social Responsiveness Scale-II (SRS-2) as a measure of autistic traits and social impairment. We measured 11 phthalate metabolites in maternal first trimester urine samples and assessed folic acid supplementation from reported intakes. We estimated covariate-adjusted differences in SRS-2 T-scores with a doubling in phthalate concentrations in 510 children with complete data. RESULTS: Mean total SRS T-score was 45.3 (SD=6.1). Children with higher gestational exposure to mono-n-butyl (MBP) and mono-3-carboxypropyl (MCPP) concentrations exhibited significantly higher total SRS T-scores, indicating greater overall social impairment, as well as higher scores on subdomains, indicating deficits in social cognition, social communication, social motivation, and restricted interests/repetitive behaviors. A doubling in MBP or MCPP concentrations was associated with 0.6 (95% CI: 0.1, 1.0) and 0.5 (95% CI: 0.1, 0.8) higher total SRS T-scores. Associations were consistently and significantly stronger in boys (betaMBP=1.0; 95% CI: 0.4, 1.6; n=252) compared with girls (betaMBP=0.1; 95% CI: -0.6, 0.7; n=258) and among children who had lower prenatal folic acid supplementation (<400mug/d) (betaMBP=1.3; 95% CI: 0.4, 2.3; n=59) compared with those who had adequate folic acid supplementation (>/=400mug/d) (betaMBP=0.4; 95% CI: -0.1, 0.8; n=451). CONCLUSIONS: Higher gestational concentrations of some phthalate metabolites were associated with higher scores of autistic traits as measured by the SRS-2 in boys, but not girls; these small size effects were mitigated by first trimester-of-pregnancy folic acid supplementation. https://doi.org/10.1289/EHP5621.
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6. Pesko MJ, Burbige EM, Sannar EM, Beresford C, Rogers C, Ariefdjohan M, Stutzman D. {{The Use of N-acetylcysteine Supplementation to Decrease Irritability in Four Youths With Autism Spectrum Disorders}}. {J Pediatr Pharmacol Ther};2020;25(2):149-154.
Children and adolescents with autism spectrum disorder (ASD) often experience high levels of irritability, which adversely affects their functioning and behaviors. N-acetylcysteine (NAC), an antioxidant precursor to glutathione, has recently been studied for a variety of neuropsychiatric disorders. There is growing evidence to support its use to decrease irritability and self-injurious behaviors in youth with ASD. However, previous studies were limited to outpatient youth with mild symptoms of irritability, maintained on stable medication regimens, who do not meet criteria for higher levels of care. We describe the use of NAC among 4 youths (14-17 years) with ASD who had Aberrant Behavior Checklist-Irritability (ABC-I) scores of >/= 20 and other psychotropic medication trials prior to treatment with NAC. In all of the cases, NAC appeared to be well tolerated. There was a reduction of symptoms of irritability and/or antipsychotic medication dosages in these cases; despite this, the authors cannot know whether use of NAC or other medication or behavioral strategies were responsible for such changes because this study was not a controlled trial.
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7. Sommantico M, Parrello S, De Rosa B. {{Adult siblings of people with and without intellectual and developmental disabilities: Sibling relationship attitudes and psychosocial outcomes}}. {Res Dev Disabil};2020 (Feb 15);99:103594.
There is still little research on the relationships between adults with intellectual and developmental disabilities and their typically-developing siblings, despite the importance of these ties for siblings’ psychological well-being, especially in terms of depression, anxiety, and life satisfaction. In this study, the sibling relationship attitudes of adult siblings of people with (N = 133) and without (N = 140) intellectual and developmental disabilities were explored. Feelings, behaviors, and thoughts related to sibling relationships were measured using the Lifespan Sibling Relationship Scale; depression was measured using the Beck Depression Inventory-II; anxiety was measured using the Beck Anxiety Inventory; and life satisfaction was measured using the Satisfaction With Life Scale. Results indicate that higher levels of positive sibling relationship attitudes are negatively related to levels of depression and anxiety, and positively related to levels of life satisfaction. Furthermore, adult siblings of people with intellectual and developmental disabilities show less positive sibling relationship attitudes, higher levels of depression and anxiety, and lower levels of life satisfaction. Finally, group membership, indirectly through sibling relationship attitudes, was related to depressive and anxious symptoms, as well as to life satisfaction. Implications for future research and policies are discussed.
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8. Widman CJ, Lopez-Reyna NA. {{Supports for Postsecondary Students with Autism Spectrum Disorder: A Systematic Review}}. {J Autism Dev Disord};2020 (Feb 18)
In order to survey extant literature examining support specifically for postsecondary students with Autism Spectrum Disorder (ASD), a systematic review of the literature was conducted through a synthesis of an established protocol of quality indicators for special education research and the methodology for PRISMA (Preferred Reporting Items for Systematic reviews and Meta-Analyses). Eight themes were identified describing features of programs, interventions, and supports that were implemented or described in the 21 studies reviewed. One of the themes, parent support, is underexamined in the literature relating to postsecondary institutions. Recommendations for needed research are included.
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9. Yazdani S, Capuano A, Ghaziuddin M, Colombi C. {{Exclusion Criteria Used in Early Behavioral Intervention Studies for Young Children with Autism Spectrum Disorder}}. {Brain Sci};2020 (Feb 13);10(2)
This literature review evaluated early behavioral intervention studies of Autism Spectrum disorder (ASD) based on their participant exclusion criteria. The studies included were found through searching PsycINFO and PubMed databases, and discussed behavioral interventions for children up to 5 years of age with ASD and utilized a group research design. Studies reviewed were categorized into three groups: Restrictive exclusion criteria, loosely defined exclusion criteria, and exclusion criteria not defined. Results indicated that studies that used restrictive exclusion criteria demonstrated greater differences in terms of outcomes between experimental and control groups in comparison to studies that used loosely defined exclusion criteria and/or did not define any exclusion criteria. We discussed implications for the generalizability of the studies’ outcomes in relationship to exclusion criteria.
