Pubmed du 16/01/20

jeudi 16 janvier 2020

1. Autism spectrum disorder. Nat Rev Dis Primers ;2020 (Jan 16) ;6(1):6.

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2. Castelijns B, Baak ML, Timpanaro IS, Wiggers CRM, Vermunt MW, Shang P, Kondova I, Geeven G, Bianchi V, de Laat W, Geijsen N, Creyghton MP. Hominin-specific regulatory elements selectively emerged in oligodendrocytes and are disrupted in autism patients. Nat Commun ;2020 (Jan 16) ;11(1):301.

Speciation is associated with substantial rewiring of the regulatory circuitry underlying the expression of genes. Determining which changes are relevant and underlie the emergence of the human brain or its unique susceptibility to neural disease has been challenging. Here we annotate changes to gene regulatory elements (GREs) at cell type resolution in the brains of multiple primate species spanning most of primate evolution. We identify a unique set of regulatory elements that emerged in hominins prior to the separation of humans and chimpanzees. We demonstrate that these hominin gains perferentially affect oligodendrocyte function postnatally and are preferentially affected in the brains of autism patients. This preference is also observed for human-specific GREs suggesting this system is under continued selective pressure. Our data provide a roadmap of regulatory rewiring across primate evolution providing insight into the genomic changes that underlie the emergence of the brain and its susceptibility to neural disease.

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3. Conner CM, Golt J, Righi G, Shaffer R, Siegel M, Mazefsky CA. A Comparative Study of Suicidality and Its Association with Emotion Regulation Impairment in Large ASD and US Census-Matched Samples. J Autism Dev Disord ;2020 (Jan 14)

Evidence suggests increased rates of suicidality in autism spectrum disorder (ASD), but the research has rarely used comparison samples and the role of emotion dysregulation has not been considered. We compared the prevalence of parent-reported suicidality ideation and considered the role of emotion dysregulation in 330 psychiatric inpatient youth with ASD, 1169 community youth with ASD surveyed online, and 1000 youth representative of the US census. The prevalence of suicidal ideation was three and five times higher in the community and inpatient ASD samples, respectively, compared to the general US sample. In the ASD groups, greater emotion dysregulation was associated with suicidal ideation. Implications include consideration of emotion regulation as a potential mechanism and treatment target for suicidality in ASD.

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4. Dijkhuis R, de Sonneville L, Ziermans T, Staal W, Swaab H. Autism Symptoms, Executive Functioning and Academic Progress in Higher Education Students. J Autism Dev Disord ;2020 (Jan 14)

Many students with autism spectrum disorders (ASDs) attending higher education drop out prematurely. The predictive value of self-reported daily executive functioning (EF) and (cognitive) performance-based EF (mental flexibility and working memory) for academic progress was evaluated in 54 young adults with ASD (Mage = 22.5, SD = 2.4, 72% male). Regression analyses showed that autism symptom severity explained 12% of variance in academic progress, which was raised to 36% by adding self-reported daily EF, and to 25% by adding performance-based EF. It is suggested that EF is a candidate marker for academic progress in higher education students with ASD and a candidate target for early intervention.

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5. El-Ansary A, Hassan WM, Daghestani M, Al-Ayadhi L, Ben Bacha A. Preliminary evaluation of a novel nine-biomarker profile for the prediction of autism spectrum disorder. PLoS One ;2020 ;15(1):e0227626.

BACKGROUND : Autism spectrum disorder (ASD) is a complex group of heterogeneous neurodevelopmental disorders the prevalence of which has been in the rise in the past decade. In an attempt to better target the basic causes of ASD for diagnosis and treatment, efforts to identify reliable biomarkers related to the body’s metabolism are increasing. Despite an increase in identifying biomarkers in ASD, there are none so far with enough evidence to be used in routine clinical examination, unless medical illness is suspected. Promising biomarkers include those of mitochondrial dysfunction, oxidative stress, energy metabolism, and apoptosis. METHODS AND PARTICIPANTS : Sodium (Na+), Potassium (K+), glutathione (GSH), glutathione-s-transferase (GST), Creatine kinase (CK), lactate dehydrogenase (LDH), Coenzyme Q10, and melatonin (MLTN) were evaluated in 13 participants with ASD and 24 age-matched healthy controls. Additionally, five ratios, which include Na+/K+, GSH:GST, CK:Cas7, CoQ10 : Cas 7, and Cas7:MLTN, were tested to measure their predictive values in discriminating between autistic individuals and controls. These markers, either in absolute values, as five ratios, or combined (9 markers + 5 ratios) were subjected to a principal component analysis and multidimensional scaling (MDS), and hierarchical clustering, which are helpful statistical tools in the field of biomarkers. RESULTS : Our data demonstrated that both PCA and MDS analysis were effective in separating autistic from control subjects completely. This was also confirmed through the use of hierarchical clustering, which showed complete separation of the autistic and control groups based on nine biomarkers, five biomarker ratios, or a combined profile. Excellent predictive value of the measured profile was obtained using the receiver operating characteristics analysis, which showed an area under the curve of 1. CONCLUSION : The availability of an improved predictive profile, represented by nine biomarkers plus the five ratios, inter-related different etiological mechanisms in ASD and would be valuable in providing greater recognition of the altered biological pathways in ASD. Our predictive profile could be used for the diagnosis and intervention of ASD.

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6. Gernsbacher MA, Yergeau M. Empirical Failures of the Claim That Autistic People Lack a Theory of Mind. Arch Sci Psychol ;2019 ;7(1):102-118.

The claim that autistic people lack a theory of mind-that they fail to understand that other people have a mind or that they themselves have a mind-pervades psychology. This article (a) reviews empirical evidence that fails to support the claim that autistic people are uniquely impaired, much less that all autistic people are universally impaired, on theory-of-mind tasks ; (b) highlights original findings that have failed to replicate ; (c) documents multiple instances in which the various theory-of-mind tasks fail to relate to each other and fail to account for autistic traits, social interaction, and empathy ; (c) summarizes a large body of data, collected by researchers working outside the theory-of-mind rubric, that fails to support assertions made by researchers working inside the theory-of-mind rubric ; and (d) concludes that the claim that autistic people lack a theory of mind is empirically questionable and societally harmful.

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7. Jeoung B. Study of the relationships between the health condition, caring in terms of health practice behavior on quality of life of parents of children with developmental disabilities. J Exerc Rehabil ;2019 (Dec) ;15(6):826-831.

This study aimed to determine the relationships between the quality of life, health condition, and caring in terms of health practice behaviors of parents of children with developmental disabilities. Two hundred forty-three parents of children with developmental disabilities participated. We examined the quality of life ; the health practice behavior questionnaire comprised details of health condition, caring behavior, and diet, and it used a 10-point scale for scoring. The data were analyzed using a one-way analysis of variance ; linear regression was conducted using IBM SPSS Statistics ver. 23.0. The results indicated that there were associations between quality of life, relations with family members, relations with neighbors, living standards, physical condition, and function among the subfactors. There were significant differences between exercise practice behavior, quality of life, relations with family, relations with neighbors, living standards, physical condition and functioning, emotional state, and self-esteem among subfactors. It was found that there were significant differences between diet behavior and quality of life, and physical condition and function, emotional state in sub factor of quality of life. Based on the results of this study, if a health promotion behavior program is developed and applied systematically, it will contribute to improving the quality of life for parents’ children with developmental disabilities.

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8. Lord C, Brugha TS, Charman T, Cusack J, Dumas G, Frazier T, Jones EJH, Jones RM, Pickles A, State MW, Taylor JL, Veenstra-VanderWeele J. Autism spectrum disorder. Nat Rev Dis Primers ;2020 (Jan 16) ;6(1):5.

Autism spectrum disorder is a construct used to describe individuals with a specific combination of impairments in social communication and repetitive behaviours, highly restricted interests and/or sensory behaviours beginning early in life. The worldwide prevalence of autism is just under 1%, but estimates are higher in high-income countries. Although gross brain pathology is not characteristic of autism, subtle anatomical and functional differences have been observed in post-mortem, neuroimaging and electrophysiological studies. Initially, it was hoped that accurate measurement of behavioural phenotypes would lead to specific genetic subtypes, but genetic findings have mainly applied to heterogeneous groups that are not specific to autism. Psychosocial interventions in children can improve specific behaviours, such as joint attention, language and social engagement, that may affect further development and could reduce symptom severity. However, further research is necessary to identify the long-term needs of people with autism, and treatments and the mechanisms behind them that could result in improved independence and quality of life over time. Families are often the major source of support for people with autism throughout much of life and need to be considered, along with the perspectives of autistic individuals, in both research and practice.

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9. Patrick KE, Schultheis MT, Agate FT, McCurdy MD, Daly BP, Tarazi RA, Chute DL, Hurewitz F. Executive function "drives" differences in simulated driving performance between young adults with and without autism spectrum disorder. Child Neuropsychol ;2020 (Jan 15):1-17.

Individuals with autism spectrum disorder (ASD) may experience greater difficulty learning to drive than peers who do not have ASD, but reasons for those differences are unclear. This study examined how diagnostic symptoms of ASD and commonly co-morbid executive dysfunction relate to differences in simulated driving performance between young, inexperienced drivers with and without ASD. Participants included 98 young adults, ages 16-26 years, half of which were diagnosed with ASD. Participants with ASD completed the Autism Diagnostic Observation Schedule (ADOS-2) and self- and parent-report versions of the Social Responsiveness Scale (SRS-2) to confirm diagnosis and assess the severity of ASD symptoms. All participants completed neuropsychological tests measuring executive functioning. Driving behaviors, including speed and lane positioning, were assessed on a virtual reality driving simulator. Analyses were conducted to first examine relationships between autism severity and driving behaviors, and then to examine whether neurocognitive performance mediated differences in driving behaviors between young adults with and without ASD. Controlling for age, gender, and licensure status, ASD symptom severity was not significantly related to driving. Neurocognitive variables were grouped into three factors : Speed of Information Processing, Auditory Attention and Working Memory, and Selective and Divided Attention. Speed of Information Processing significantly mediated group driving differences. Results suggest that assessment of executive functions such as processing speed may be more useful than the diagnostic assessment of ASD symptoms for evaluation of driving readiness.

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10. Pereira JLP, Pedroso JL, Barsottini OGP, Meira AT, Teive HAG. Rett syndrome : the Brazilian contribution to the gene discovery. Arq Neuropsiquiatr ;2019 (Dec) ;77(12):896-899.

OBJECTIVE : A brief history of the syndrome discovered by Andreas Rett is reported in this paper. METHODS : Although having been described in 1966, the syndrome was only recognized by the international community after a report by Hagberg et al. in 1983. Soon, its importance was evident as a relatively frequent cause of severe encephalopathy among girls. CONCLUSION : From the beginning it was difficult to explain the absence of male patients and the almost total predominance of sporadic cases (99%), with very few familial cases. For these reasons, it was particularly difficult to investigate this condition until 1997, when a particular Brazilian family greatly helped in the final discovery of the gene, and in the clarification of its genetic mechanism. RESULTS : Brief references are made to the importance of the MECP2 gene, 18 years later, as well as to its role in synaptogenesis and future prospects.

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11. Raz A, Lehavi A, Fein S. Cesarean Delivery Under General Anesthesia Causing Autistic Spectrum Disorders : Not Very Likely. J Autism Dev Disord ;2020 (Jan 16)

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12. Sacrey LR, Zwaigenbaum L, Bryson S, Brian J, Smith IM, Roberts W, Szatmari P, Vaillancourt T, Roncadin C, Garon N. Screening for Behavioral Signs of Autism Spectrum Disorder in 9-Month-Old Infant Siblings. J Autism Dev Disord ;2020 (Jan 14)

Despite considerable progress in characterizing the early signs of autism spectrum disorder (ASD), more remains to be learned about how symptoms emerge in the first year of life. Parents with a new baby who already had at least one biological child diagnosed with ASD (high-risk) or no family history of ASD (low-risk) completed two measures when their baby was 9 months of age, the Autism Parent Screen for Infants (APSI) questionnaire and the interview-based Parent Concerns Form. Children underwent a blinded independent diagnostic assessment for ASD at age 3 years. Total scores on the APSI and the Parent Concerns Form were both able to independently differentiate high-risk children who were later diagnosed with ASD from other high-risk and low-risk children who were not. Using logistic regression, we found that the total score on the APSI predicted ASD outcomes at age 3 with 70% accuracy, but the Parent Concerns Form did not contribute any unique variance when the APSI was already in the model. The results suggest that the APSI identifies early features predictive of ASD in high-risk infants and can be used to flag them for targeted follow-up and screening.

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13. Skonieczna-Zydecka K, Jamiol-Milc D, Borecki K, Stachowska E, Zabielska P, Kaminska M, Karakiewicz B. The Prevalence of Insomnia and the Link between Iron Metabolism Genes Polymorphisms, TF rs1049296 C>T, TF rs3811647 G>A, TFR rs7385804 A>C, HAMP rs10421768 A>G and Sleep Disorders in Polish Individuals with ASD. Int J Environ Res Public Health ;2020 (Jan 8) ;17(2)

Iron deficiency have been found to be linked to sleep disorders. Both genetic and environmental factors are risk factors for skewed iron metabolism, thus sleep disruptions in autism spectrum disorders (ASD). The aim of our study was to assess the prevalence of single nucleotide polymorphisms (SNPs) within transferrin gene (TF) rs1049296 C>T, rs3811647 G>A, transferrin receptor gene (TFR) rs7385804 A>C, and hepcidin antimicrobial peptide gene (HAMP) rs10421768 A>G in Polish individuals with ASD and their impact on sleep pattern. There were 61 Caucasian participants with ASD and 57 non-ASD controls enrolled. Genotypes were determined by real-time PCR using TaqMan SNP assays. The Athens Insomnia Scale (AIS) was used to identify sleep disruptions. There were 32 cases (57.14%) with insomnia identified. In the ASD group, the defined counts of genotypes were as follows : TF rs1049296, C/C n = 41 and C/T n = 20 ; TF rs3811647, G/G n = 22, G/A n = 34, and A/A n = 5 ; TFR rs7385804, A/A n = 22, A/C n = 29, and C/C n = 10 ; and HAMP rs10421768, A/A n = 34, A/G n = 23, and G/G n = 4. There were no homozygous carriers of the TF rs1049296 C>T minor allele in the ASD group. All analyzed SNPs were not found to be linked to insomnia. The investigated polymorphisms are not predictors of sleep disorders in the analyzed cohort of individuals with ASD.

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14. Slavotinek A, van Hagen JM, Kalsner L, Pai S, Davis-Keppen L, Ohden L, Weber YG, Macke EL, Klee EW, Morava E, Gunderson L, Person R, Liu S, Weiss M. Jumonji domain containing 1C (JMJD1C) sequence variants in seven patients with autism spectrum disorder, intellectual disability and seizures. Eur J Med Genet ;2020 (Jan 16):103850.

The Jumonji domain containing 1C (JMJD1C) gene encodes the Jumonji domain-containing protein 1C (JMJD1C) and is a member of the jmJC domain-containing protein family involved in histone demethylation that is expressed in the brain. We report seven, unrelated patients with developmental delays or intellectual disability and heterozygous, de novo sequence variants in JMJD1C. All patients had developmental delays, but there were no consistent additional findings. Two patients were reported to have seizures for which there was no other identified cause. De novo, deleterious sequence variants in JMJD1C have previously been reported in patients with autism spectrum disorder and a phenotype resembling classical Rett syndrome, but only one JMJD1C variant has undergone functional evaluation. In all of the seven patients in this report, there was a plausible, alternative explanation for the neurocognitive phenotype or a modifying factor, such as an additional potentially pathogenic variant, presence of the variant in a population database, heteroplasmy for a mitochondrial variant or mosaicism for the JMJD1C variant. Although the de novo variants in JMJD1C are likely to be relevant to the developmental phenotypes observed in these patients, we conclude that further data supporting the association of JMJD1C variants with intellectual disability is still needed.

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15. Webster PJ, Frum C, Kurowski-Burt A, Bauer CE, Wen S, Ramadan JH, Baker KA, Lewis JW. Processing of Real-World, Dynamic Natural Stimuli in Autism is Linked to Corticobasal Function. Autism Res ;2020 (Jan 16)

Many individuals with autism spectrum disorder (ASD) have been shown to perceive everyday sensory information differently compared to peers without autism. Research examining these sensory differences has primarily utilized nonnatural stimuli or natural stimuli using static photos with few having utilized dynamic, real-world nonverbal stimuli. Therefore, in this study, we used functional magnetic resonance imaging to characterize brain activation of individuals with high-functioning autism when viewing and listening to a video of a real-world scene (a person bouncing a ball) and anticipating the bounce. We investigated both multisensory and unisensory processing and hypothesized that individuals with ASD would show differential activation in (a) primary auditory and visual sensory cortical and association areas, and in (b) cortical and subcortical regions where auditory and visual information is integrated (e.g. temporal-parietal junction, pulvinar, superior colliculus). Contrary to our hypotheses, the whole-brain analysis revealed similar activation between the groups in these brain regions. However, compared to controls the ASD group showed significant hypoactivation in the left intraparietal sulcus and left putamen/globus pallidus. We theorize that this hypoactivation reflected underconnectivity for mediating spatiotemporal processing of the visual biological motion stimuli with the task demands of anticipating the timing of the bounce event. The paradigm thus may have tapped into a specific left-lateralized aberrant corticobasal circuit or loop involved in initiating or inhibiting motor responses. This was consistent with a dual "when versus where" psychophysical model of corticobasal function, which may reflect core differences in sensory processing of real-world, nonverbal natural stimuli in ASD. Autism Res 2020. (c) 2020 International Society for Autism Research, Wiley Periodicals, Inc. LAY SUMMARY : To understand how individuals with autism perceive the real-world, using magnetic resonance imaging we examined brain activation in individuals with autism while watching a video of someone bouncing a basketball. Those with autism had similar activation to controls in auditory and visual sensory brain regions, but less activation in an area that processes information about body movements and in a region involved in modulating movements. These areas are important for understanding the actions of others and developing social skills.

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OBJECTIVE : For every 100 random children diagnosed with autism, at least 20 have morphological abnormalities, often associated with syndromes. Brazil does not have a standardized and validated instrument for morphological physical examination. This study aimed to translate into Brazilian Portuguese and culturally adapt the clinical signs described in the Autism Dysmorphology Measure, as well as validate the instrument in a sample of children with autism. METHODS : The original instrument was translated, culturally adapted, and published in full, following traditional procedures for translation, back-translation, and terminology adaptation according to the Nomina Anatomica. The sample included 62 children from a published multicenter study, with intelligence quotient between 50-69, of both genders, with chronological age between 3-6 years. Two clinical geneticists performed the morphological physical examination, which consisted of investigating 82 characteristics assessing 12 body areas. We used Cohen’s Kappa coefficient to evaluate the agreement between the two observers. RESULTS : The final version of the instrument - translated into Brazilian Portuguese and culturally adapted - showed high agreement between the two observers. CONCLUSIONS : The translated instrument meets all international criteria, and minor anomalies and their clinical descriptions were standardized and are recognizable for physicians not specialized in genetics.

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