1. {{Air pollution and autism}}. {Arch Dis Child}. 2019.
Lien vers le texte intégral (Open Access ou abonnement)
2. Aabed K, Shafi Bhat R, Moubayed N, Al-Mutiri M, Al-Marshoud M, Al-Qahtani A, Ansary A. {{Ameliorative effect of probiotics (Lactobacillus paracaseii and Protexin(R)) and prebiotics (propolis and bee pollen) on clindamycin and propionic acid-induced oxidative stress and altered gut microbiota in a rodent model of autism}}. {Cellular and molecular biology (Noisy-le-Grand, France)}. 2019; 65(1): 1-7.
Colonization by toxin-producing bacteria in the gut plays a major role in bowel problems in autistic patients. Prebiotics can inhibit the growth of these pathogenic microbes by nourishing beneficial bacteria, while probiotics–live microorganisms–can balance the gut bacteria; thus, both together can maintain healthy bacteria in the gut. The present study was conducted to find the effect of probiotics and prebiotics in balancing the gut flora in a rodent model of autism linked with a clindamycin-induced altered gut. The effects of probiotics and prebiotics on oxidative stress markers in the brain were also evaluated. Eight groups of hamsters were assigned, with Group I serving as the control; Group II, as the autistic model, was treated with 250 mg propionic acid/kg BW/day for 3 days; Group III was treated with clindamycin 30 mg/kg BW for 3 days; Groups IV and V were treated with bee pollen and propolis (supposed prebiotics) at a dose of 250 mg/kg BW/day for 28 days; Group VI and Group VII were treated with Lactobacillus paracaseii and Protexin(R) (supposed probiotics) for 28 days; and finally, Group VIII was anorectally transplanted with stool from normal animals for 5 days. Remarkable changes were measured in oxidative stress markers, primarily glutathione and vitamin C, in the brains of hamsters in the propionic acid- and clindamycin-treated group. All probiotic/prebiotic treatments showed ameliorative effects; however, lactobacillus had the strongest effect. We conclude that pro-and prebiotic supplements may be effective to revive healthy digestive system function in autistic patients. The disappointing results of the fecal transplants suggest that further study is needed to develop an appropriate technique.
3. 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.
Lien vers le texte intégral (Open Access ou abonnement)
4. Alex AM, Saradalekshmi KR, Shilen N, Suresh PA, Banerjee M. {{Genetic association of DNMT variants can play a critical role in defining the methylation patterns in autism}}. {IUBMB life}. 2019.
Autism spectrum disorder (ASD) is a complex neurodevelopmental disorder with impairments in social communication, restricted, repetitive and stereotyped behaviors. Both genetic and environmental factors are known to contribute toward pathophysiology of Autism. Environmental influences on gene expression can be mediated by methylation patterns which are established and maintained by DNA methyltransferases. Several studies in the past have investigated the role of global methylations in Autism. The present study is aimed to investigate the role of genetic variations in the DNA methyltransferase which might be critical in defining the threshold for environmental factors toward susceptibility to autism. Polymorphisms in DNA methyltransferases, DNMT1, DNMT3A, DNMT3B, and DNMT3L were screened for association with ASD in 180 autistic patients and 260 healthy controls from a south Indian population. DNMT1 rs10418707 and rs10423341, and DNMT3A rs2289195 were found to be significantly associated at genotypic and allelic level with ASD. Functional prediction indicates that these SNPs have a role in transcriptional regulation and increased expression, indicating that hypermethylation might be induced by its genotype status. The study might reflect the role of genetics variants in DNMTs in defining the threshold of environmental impact in influencing the disease or phenotype variations in ASD. (c) 2019 IUBMB Life, 2019.
Lien vers le texte intégral (Open Access ou abonnement)
5. 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.
Lien vers le texte intégral (Open Access ou abonnement)
6. Davenport EC, Szulc BR, Drew J, Taylor J, Morgan T, Higgs NF, Lopez-Domenech G, Kittler JT. {{Autism and Schizophrenia-Associated CYFIP1 Regulates the Balance of Synaptic Excitation and Inhibition}}. {Cell reports}. 2019; 26(8): 2037-51.e6.
Altered excitatory/inhibitory (E/I) balance is implicated in neuropsychiatric and neurodevelopmental disorders, but the underlying genetic etiology remains poorly understood. Copy number variations in CYFIP1 are associated with autism, schizophrenia, and intellectual disability, but its role in regulating synaptic inhibition or E/I balance remains unclear. We show that CYFIP1, and the paralog CYFIP2, are enriched at inhibitory postsynaptic sites. While CYFIP1 or CYFIP2 upregulation increases excitatory synapse number and the frequency of miniature excitatory postsynaptic currents (mEPSCs), it has the opposite effect at inhibitory synapses, decreasing their size and the amplitude of miniature inhibitory postsynaptic currents (mIPSCs). Contrary to CYFIP1 upregulation, its loss in vivo, upon conditional knockout in neocortical principal cells, increases expression of postsynaptic GABAA receptor beta2/3-subunits and neuroligin 3, enhancing synaptic inhibition. Thus, CYFIP1 dosage can bi-directionally impact inhibitory synaptic structure and function, potentially leading to altered E/I balance and circuit dysfunction in CYFIP1-associated neurological disorders.
Lien vers le texte intégral (Open Access ou abonnement)
7. Gorriz JM, Ramirez J, Segovia F, Martinez FJ, Lai MC, Lombardo MV, Baron-Cohen S, Suckling J. {{A Machine Learning Approach to Reveal the NeuroPhenotypes of Autisms}}. {International journal of neural systems}. 2018: 1850058.
Although much research has been undertaken, the spatial patterns, developmental course, and sexual dimorphism of brain structure associated with autism remains enigmatic. One of the difficulties in investigating differences between the sexes in autism is the small sample sizes of available imaging datasets with mixed sex. Thus, the majority of the investigations have involved male samples, with females somewhat overlooked. This paper deploys machine learning on partial least squares feature extraction to reveal differences in regional brain structure between individuals with autism and typically developing participants. A four-class classification problem (sex and condition) is specified, with theoretical restrictions based on the evaluation of a novel upper bound in the resubstitution estimate. These conditions were imposed on the classifier complexity and feature space dimension to assure generalizable results from the training set to test samples. Accuracies above 80% on gray and white matter tissues estimated from voxel-based morphometry (VBM) features are obtained in a sample of equal-sized high-functioning male and female adults with and without autism ( N = 120 , n = 30 /group). The proposed learning machine revealed how autism is modulated by biological sex using a low-dimensional feature space extracted from VBM. In addition, a spatial overlap analysis on reference maps partially corroborated predictions of the « extreme male brain » theory of autism, in sexual dimorphic areas.
Lien vers le texte intégral (Open Access ou abonnement)
8. Holmes LG, Strassberg DS, Himle MB. {{Family Sexuality Communication for Adolescent Girls on the Autism Spectrum}}. {J Autism Dev Disord}. 2019.
Families are critical for supporting healthy sexuality and relationship development for youth with autism. The objective of this study was to describe family sexuality communication for adolescent girls with autism. Participants were 141 parents of autistic daughters who completed an online survey about sexuality development. Most parents relied on discussion alone rather than visual supports or skills-based teaching techniques. Intellectual functioning, child age, race/ethnicity, and whether youth expressed sexual interest in others affected family sexuality communication. We discuss how most parents covered important basics, but many did not cover more nuanced relationship or sexual health topics during family sexuality communication. Few used enhanced instructional techniques (e.g., visual supports, social stories), suggesting potential utilization barriers such as a lack of affordable and available resources. There is a need for research accounting for diverse racial/ethnic backgrounds, sexual orientations including asexuality/demisexuality, and for transgender and gender diverse youth.
Lien vers le texte intégral (Open Access ou abonnement)
9. Hrdlicka M, Kudr M, Krsek P, Tichy M, Kyncl M, Zamecnik J, Mohaplova M, Dudova I. {{Recovery from Autism after Successful Surgery for a Benign Brain Tumor Associated with Epilepsy}}. {J Autism Dev Disord}. 2019.
Lien vers le texte intégral (Open Access ou abonnement)
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.
Lien vers le texte intégral (Open Access ou abonnement)
11. Manohar H, Kandasamy P, Chandrasekaran V, Rajkumar RP. {{Early Diagnosis and Intervention for Autism Spectrum Disorder: Need for Pediatrician-Child Psychiatrist Liaison}}. {Indian journal of psychological medicine}. 2019; 41(1): 87-90.
Background: Early interventions in children with autism spectrum disorder (ASD) reduce progressive symptom development. Delay in diagnosis and initiation of ASD-specific interventions is observed across settings. This study aimed to assess the trends in time to diagnosis and treatment initiation in a tertiary care pediatric setting. Methodology: Families of children with ASD (n = 50) were assessed, and details regarding age at first symptom recognition, medical consultation, receiving the diagnosis, and initiation of treatment were collected, in addition to detailed clinical assessment. Results: About 70% of families met a pediatrician for initial concerns, and 20% received a diagnosis of ASD from the first-contact pediatrician. The mean age at initial symptom recognition was 22.22 +/- 9.47 months, whereas the first consultation was 27.22 +/- 10.83 months. The mean age at initiation of ASD-specific interventions was 36.58 +/- 10.2 months, amounting to an overall delay of 14.38 months from initial symptom recognition to treatment initiation. The time delay in our study is found to be lesser compared with similar studies across settings. Discussion: Pediatricians have a significant role to play in early diagnosis and care of children with ASD in close liaison with child psychiatry teams. Improving awareness, routine screening, and prompt referral of children « at-risk » for ASD are imperative. Initiating ASD-specific interventions in pediatric or primary care settings is an effective alternative to curtail the delay in treatment initiation.
Lien vers le texte intégral (Open Access ou abonnement)
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.
Lien vers le texte intégral (Open Access ou abonnement)
13. Punnoose VP. {{Psychiatrist’s Perspective: Invited Commentary on « Early Diagnosis and Intervention for Autism Spectrum Disorder: Need for Pediatrician-Child Psychiatrist Liaison »}}. {Indian journal of psychological medicine}. 2019; 41(1): 91-2.
Lien vers le texte intégral (Open Access ou abonnement)
14. Rosenfeld S, Sujarchuk S. {{[Autism: Language, body and writing]}}. {Vertex (Buenos Aires, Argentina)}. 2018; Xxix(141): 330-3.
This work aims to convey to health professionals, an exhaustive clinical approach of children and adolescents, diagnosed in the category of Autism Spectrum Disorder (ASD), performed during the last twenty years, in public hospitals and therapeutic educational centers in the city of Buenos Aires, Argentina. Here are presented tools to overcome the sameness behavior and loneliness originally defined in said clinical picture.
15. Sayed Javad Javaheri ES, Bigdeli MR, Zibaii MI, Dargahi L, Pouretemad HR. {{Optogenetic Stimulation of the Anterior Cingulate Cortex Ameliorates Autistic-Like Behaviors in Rats Induced by Neonatal Isolation, Caudate Putamen as a Site for Alteration}}. {Neuromolecular medicine}. 2019.
Epigenetic agents, such as neonatal isolation during neurodevelopmental period of life, can change various regions of the brain. It may further induce psychological disorders such as autistic-like phenomena. This study indicated the role of chronic increased anterior cingulate cortex (ACC) output on alteration of caudate putamen (CPu) as a main behavior regulator region of the brain in adult maternal deprived (MD) rats. For making an animal model, neonates were isolated from their mothers in postnatal days (PND 1-10, 3 h/day). Subsequently, they bilaterally received pLenti-CaMKIIa-hChR2 (H134R)-mCherry-WPRE virus in ACC area via stereotaxic surgery in PND50. After 22 days, these regions were exposed to blue laser (473 nm) for six consecutive days (15 min/day). Then, behavioral deficits were tested and were compared with control group in the following day. Animals were immediately killed and their brains were prepared for tissue processing. Results showed that neonatal isolation induces autistic-like behaviors and leads to overexpression of NMDAR1 and Nox2-gp91(phox) proteins and elevation of catalase activity in the CPu regions of the adult offspring compared with control group. Chronic optogenetic stimulation of ACC neurons containing (ChR2+) led to significant reduction in the appearance of stereotypical behavior and alien-phobia in MD rats. The amount of NMDAR1 and Nox2-gp91(phox) expression and the catalase activity in CPu were reduced after this treatment. Therefore, autistic-like behavior seems to be related with elevation of NMDAR1 and Nox2-gp91(phox) protein levels that enhance the effect of glutamatergic projection on CPu regions. Optogenetic treatment also could ameliorate behavioral deficits by modulating these protein densities.
Lien vers le texte intégral (Open Access ou abonnement)
16. Shapira SK, Tian LH, Aylsworth AS, Elias ER, Hoover-Fong JE, Meeks NJL, Souders MC, Tsai AC, Zackai EH, Alexander AA, Yeargin-Allsopp M, Schieve LA. {{A Novel Approach to Dysmorphology to Enhance the Phenotypic Classification of Autism Spectrum Disorder in the Study to Explore Early Development}}. {J Autism Dev Disord}. 2019.
The presence of multiple dysmorphic features in some children with autism spectrum disorder (ASD) might identify distinct ASD phenotypes and serve as potential markers for understanding causes and prognoses. To evaluate dysmorphology in ASD, children aged 3-6 years with ASD and non-ASD population controls (POP) from the Study to Explore Early Development were evaluated using a novel, systematic dysmorphology review approach. Separate analyses were conducted for non-Hispanic White, non-Hispanic Black, and Hispanic children. In each racial/ethnic group, ~ 17% of ASD cases were Dysmorphic compared with ~ 5% of POP controls. The ASD-POP differential was not explained by known genetic disorders or birth defects. In future epidemiologic studies, subgrouping ASD cases as Dysmorphic vs. Non-dysmorphic might help delineate risk factors for ASD.
Lien vers le texte intégral (Open Access ou abonnement)
17. Thurman AJ, Hoyos Alvarez C. {{Language Performance in Preschool-Aged Boys with Nonsyndromic Autism Spectrum Disorder or Fragile X Syndrome}}. {J Autism Dev Disord}. 2019.
In the present study, language performance on standardized assessments (e.g., overall verbal performance, receptive and expressive vocabulary) and spontaneous language produced in play was compared between preschool-aged boys with autism spectrum disorder (nASD, n = 25) and boys with fragile X syndrome (FXS, n = 16). At the group-level, we observed weaknesses in the language skills of boys with nASD relative to those with FXS (e.g., when considering raw score performance, standard score performance relative to nonverbal cognitive skills, frequency of talk in play), after controlling for nonverbal IQ and ASD symptom severity. Moreover, although individually most children in both groups demonstrated language delays relative to CA-expectations, language delays relative to nonverbal level-expectations were more common in boys with nASD.
Lien vers le texte intégral (Open Access ou abonnement)
18. 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.
Lien vers le texte intégral (Open Access ou abonnement)
19. Zhang Q, Yang X, Wang J, Li J, Wu Q, Wen Y, Zhao Y, Zhang X, Yao H, Wu X, Yu S, Wei L, Bao X. {{Correction: Genomic mosaicism in the pathogenesis and inheritance of a Rett syndrome cohort}}. {Genet Med}. 2019.
The second author Jiarui Li is now listed as a co-first author according to her contribution to this paper. The list of authors who contributed equally now reads: Qingping Zhang, Xiaoxu Yang, Jiaping Wang, and Jiarui Li. This has now been corrected in both the PDF and HTML versions of the Article.
