1. Ahmed N, Raheem E, Rahman N, Khan MZR, Mosabbir AA, Hossain MS. {{Managing autism spectrum disorder in developing countries by utilizing existing resources: A perspective from Bangladesh}}. {Autism};2018 (May 1):1362361318773981.
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2. Cheng Y, Li Z, Manupipatpong S, Lin L, Li X, Xu T, Jiang YH, Shu Q, Wu H, Jin P. {{5-hydroxymethylcytosine alterations in the human postmortem brains of autism spectrum disorder}}. {Hum Mol Genet};2018 (May 22)
Autism spectrum disorders (ASD) include a group of syndromes characterized by impaired language, social, and communication skills, in addition to restrictive behaviors or stereotypes. However, with a prevalence of 1.5% in developed countries and high comorbidity rates, no clear underlying mechanism that unifies the heterogeneous phenotypes of ASD exists. 5-hydroxymethylcytosine (5hmC) is highly enriched in the brain and recognized as an essential epigenetic mark in developmental and brain disorders. To explore the role of 5hmC in ASD, we used the genomic DNA isolated from the postmortem cerebellum of both ASD patients and age-matched controls to profile genome-wide distribution of 5hmC. We identified 797 age-dependent differentially hydroxymethylated regions (DhMRs) in the young group (age = 18), while no significant DhMR was identified in the groups over 18 years of age. Pathway and disease association analyses demonstrated that the intragenic DhMRs were in the genes involved in cell-cell communication and neurological disorders. Also, we saw significant 5hmC changes in the larger group of psychiatric genes. Interestingly, we found that the predicted cis functions of non-coding intergenic DhMRs strikingly associate with ASD and intellectual disorders. A significant fraction of intergenic DhMRs overlapped with topologically associating domains (TAD). These results together suggest that 5hmC alteration is associated with ASD, particularly in the early development stage, and could contribute to the pathogenesis of ASD. Lien vers le texte intégral (Open Access ou abonnement)
3. Hou YM, Stewart L, Iao LS, Wu CC. {{Parenting stress and depressive symptoms in Taiwanese mothers of young children with autism spectrum disorder: Association with children’s behavioural problems}}. {J Appl Res Intellect Disabil};2018 (May 23)
BACKGROUND: This study examined the severity of parenting stress and depressive symptoms in Taiwanese mothers of young children with autism spectrum disorder (ASD) compared to mothers of young children with developmental delay (DD). The associations between parenting stress, depressive symptoms, and children’s behavioural problems were also tested. METHODS: The study sample included 51 young children with ASD (mean age = 31 months), 51 young children with DD (mean age = 30 months) and their mothers. RESULTS: The results confirmed that mothers of young children with ASD experienced higher levels of parenting stress and depressive symptoms than mothers of young children with DD. In addition, children’s behavioural problems were robust predictors of parenting stress and depressive symptoms in mothers of young children with ASD, but not in mothers of young children with DD. CONCLUSION: The findings indicated that one of the critical goals in early intervention for young children with ASD and their families is to reduce children’s behavioural problems.
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4. Kirsten TB, Casarin RC, Bernardi MM, Felicio LF. {{Pioglitazone abolishes autistic-like behaviors via the IL-6 pathway}}. {PLoS One};2018;13(5):e0197060.
Autism is characterized by social deficits, communication abnormalities, and repetitive behaviors. The risk factors appear to include genetic and environmental conditions, such as prenatal infections and maternal dietary factors. Previous investigations by our group have demonstrated that prenatal exposure to lipopolysaccharide (LPS), which mimics infections by gram-negative bacteria, induces autistic-like behaviors. No effective treatment yet exists for autism. Therefore, we used our rat model to test a possible treatment for autism. We selected pioglitazone to block or ease the impairments induced by LPS because although this drug was designed as an anti-diabetic drug (it has an insulin effect), it also exerts anti-inflammatory effects. Juvenile offspring were treated daily with pioglitazone, and the main behaviors related to autism, namely, socialization (play behavior) and communication (50-kHz ultrasonic vocalizations), were studied. Biomarkers linked to autism and/or pioglitazone were also studied to attempt to understand the mechanisms involved, namely, IL-6, TNF-alpha, MCP-1, insulin, and leptin. Prenatal LPS exposure induced social deficits and communicational abnormalities in juvenile rat offspring as well as elevated plasma IL-6 levels. Daily postnatal pioglitazone treatment blocked the impairments found in terms of the time spent on social interaction, the number of vocalizations (i.e., autistic-like behaviors) and the elevated plasma IL-6 levels. Thus, pioglitazone appears to be a relevant candidate for the treatment of autism. The present findings may contribute to a better understanding and treatment of autism and associated diseases.
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5. Lindor E, Rinehart N, Fielding J. {{Superior Visual Search and Crowding Abilities Are Not Characteristic of All Individuals on the Autism Spectrum}}. {J Autism Dev Disord};2018 (May 22)
Individuals with Autism Spectrum Disorder (ASD) often excel on visual search and crowding tasks; however, inconsistent findings suggest that this ‘islet of ability’ may not be characteristic of the entire spectrum. We examined whether performance on these tasks changed as a function of motor proficiency in children with varying levels of ASD symptomology. Children with high ASD symptomology outperformed all others on complex visual search tasks, but only if their motor skills were rated at, or above, age expectations. For the visual crowding task, children with high ASD symptomology and superior motor skills exhibited enhanced target discrimination, whereas those with high ASD symptomology but poor motor skills experienced deficits. These findings may resolve some of the discrepancies in the literature.
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6. Mansoor D, Al Halabi M, Khamis AH, Kowash M. {{Oral health challenges facing Dubai children with Autism Spectrum Disorder at home and in accessing oral health care}}. {Eur J Paediatr Dent};2018 (Jun);19(2):127-133.
AIM: To investigate the challenges faced by Autism Spectrum Disorder (ASD) children and their families in Dubai from three different perspectives of dental care: oral care at home, oral care at the dentist and access to oral care, and to compare the results to their normally developing peers. MATERIALS AND METHODS: A case-control comparative study of 84 ASD and 53 healthy children attending special needs centres and schools in Dubai including siblings of the autistic children. Data collection was by a survey questionnaire completed by parents or guardians. RESULTS: More parents of ASD children compared to parents of healthy children reported difficulties across almost all oral care variables explored. The majority of ASD children’s parents (83.3%) reported that their children need assistance in brushing their teeth compared with 15.4% of the healthy controls (p-value < 0.001). The ASD children's uncooperative behaviour increased during dental visits and significantly more parents (37%) rated their child's experience as negative compared with 9.5% among the parents of control children (p-value=0.006). The autistic children had visited a dentist mostly for extractions. CONCLUSION: This study indicates that autistic children in Dubai experience more challenges and barriers to oral care than their typically developing healthy peers. Lien vers le texte intégral (Open Access ou abonnement)
7. Todd BP, Bassuk AG. {{A de novo mutation in PRICKLE1 associated with myoclonic epilepsy and autism spectrum disorder}}. {J Neurogenet};2018 (May 23):1-3.
Homozygous recessive mutations in the PRICKLE1 gene were first described in three consanguineous families with myoclonic epilepsy. Subsequent studies have identified neurological abnormalities in humans and animal models with both heterozygous and homozygous mutations in PRICKLE1 orthologs. We describe a 7-year-old with a novel de novo missense mutation in PRICKLE1 associated with epilepsy, autism spectrum disorder and global developmental delay.
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8. Toruner GA, Tolias P. {{Research Highlights: Copy-number variation in patients with developmental delay and autistic spectrum disorders underscored by targeted exonic array CGH}}. {Per Med};2013 (Jan);10(1):17-18.
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9. Zeedyk SM, Bolourian Y, Blacher J. {{University life with ASD: Faculty knowledge and student needs}}. {Autism};2018 (May 1):1362361318774148.
Increasingly, young adults with autism spectrum disorder are attending 4-year universities. The transition to adulthood can be challenging for these students, and university life poses its own set of demands. The present article takes a mixed-methods approach by including two studies utilizing complementary methodologies. Through in-depth interviews with students with autism spectrum disorder ( n = 13) and college professors ( n = 18), the purpose of the first study was to evaluate the experiences and needs of college students with autism spectrum disorder and identify the knowledge that faculty members possessed about working with these students. Through survey methodology with a larger sample of faculty members ( n = 132), the purpose of the second study was to obtain more information about faculty knowledge of autism spectrum disorder, and to learn whether their pedagogical practices accommodated students with autism spectrum disorder. Findings revealed that autism is often an « invisible » disability on campuses, and there are many things that professors need to know with regard to working with these students in particular. Implications for practice are discussed.