Pubmed du 03/10/19

jeudi 3 octobre 2019

1. Esmaiel NN, Ashaat EA, Mosaad R, Fayez A, Ibrahim M, Abdallah ZY, M YI, Salem S, Ramadan A, El Wakeel MA, Ashaat NA, Zaki MS, Ismail S. The potential Impact of COMT gene variants on dopamine regulation and phenotypic traits of ASD patients. Behav Brain Res ;2019 (Oct 3):112272.

Catechol-O-methyltransferase (COMT) enzyme has a major role in the adjustment of catechol-dependent functions, for example, cognition, cardiac function, and pain processing. The pathogenesis of autism may be related to dysfunction in the midbrain dopaminergic system. Therefore, we aimed to clarify how COMT gene variants affect dopamine level, and its potential impact on phenotype traits of autistic patients. 52 autistic patients were subjected to comprehensive clinical investigation, sequencing of exon 4 of the COMT gene by direct Sanger Sequencing, and measuring of dopamine levels. The clinical presentations of autistic subjects were correlated with detected COMT variants and dopamine level. Our molecular results revealed that three COMT variants were found : rs8192488 [C > T], rs4680 (Val158Met) and rs4818 [C > G]. Within autistic subjects, Val158Met rs4680 carriers were significantly distributed (71.2 % P = 0.014) accompanied with abnormal dopamine, abnormal Electroencephalogram (EEG) and increasing the severity of autistic behaviour. As regards the haplotypes, CC/VM/CG block was significantly distributed among the autistic subjects (30.8%) presented with low mean dopamine level (15.8 +/- 4.7 pg/ml, p = 0.05), while CC/MM/CC were presented with high mean level (77.8 +/- 8.6 pg/ml, p = 0.05). Evidence is currently limited and preliminary, further studies are necessary in order to set up a coherent dopaminergic model of Autism Spectrum Disorder (ASD), which would further pave the way for an adequate treatment.

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2. Flores JM, Avila-Quintero VJ, Bloch MH. Selective Serotonin Reuptake Inhibitor Use During Pregnancy-Associated With but Not Causative of Autism in Offspring. JAMA Psychiatry ;2019 (Oct 2)

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3. Frye RE. Behaviorally associated changes in neuroconnectivity following autologous umbilical cord blood infusion in young children with autism spectrum disorder. Ann Transl Med ;2019 (Jul) ;7(Suppl 3):S123.

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4. Getahun D, Fassett MJ, Jacobsen SJ, Xiang AH, Takhar HS, Wing DA, Peltier MR. Autism Spectrum Disorders in Children Exposed in Utero to Hyperemesis Gravidarum. Am J Perinatol ;2019 (Oct 3)

OBJECTIVE : This study aimed to determine if hyperemesis gravidarum (HG) is associated with autism spectrum disorder (ASD) risk, and how this association is influenced by race, ethnicity, sex, exposure timing, and medication used to treat it. STUDY DESIGN : This is a retrospective cohort study using records from 469,789 mother-child pairs who delivered at Kaiser Permanente Southern California (KPSC) hospital (1991-2014). Singleton-born children were followed longitudinally from 2 to 17 years of age. Clinical records were used to determine the diagnosis of HG and specialist-confirmed diagnosis of ASD. RESULTS : Children exposed to HG in-utero had higher rates of ASD than unexposed children (2.87 vs. 1.71/1,000 person-years ; adjusted hazard ratio [adj.HR] : 1.53 ; 95% confidence interval [CI] : 1.37-1.70). Children exposed at first and second trimester of pregnancies were more likely to develop ASD ; 1.58-fold (95% CI : 1.40-1.79), and 1.36-fold (95% CI : 1.05-1.75), respectively, compared with unexposed children. HG was associated with ASD for boys (adj.HR : 1.50 ; 95% CI : 1.33-1.70) and girls (adj.HR : 1.62 ; 95% CI : 1.28-2.05). HG was significantly associated with ASD risk in white and Hispanic children. The medications used to treat HG did not contribute to ASD risk. CONCLUSION : HG diagnosis is associated with ASD risk and may be helpful in identifying at-risk children who could benefit from enhanced surveillance and earlier diagnosis and intervention.

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5. Jensen EJ, Geisthardt C, Sarigiani PA. Working with Children with Autism Spectrum Disorder in a Medical Setting : Insights from Certified Child Life Specialists. J Autism Dev Disord ;2019 (Oct 3)

This study aimed to gain an understanding of Certified Child Life Specialists’ (CCLS) experiences with and suggestions for working with children with autism spectrum disorder (ASD) in a medical setting. Using a mixed-method design, 118 CCLS completed an online survey and 16 participated in follow-up interviews. Participants believed many medical professionals, including CCLS, are not adequately prepared to work with children with ASD, negatively impacting quality of care. Participants emphasized that outcomes are best for children with ASD when parents and medical staff collaborate to meet the unique needs of each child. CCLS reported working with children with ASD can provide insights for enhancing the quality of care for all children. Participants’ suggestions for training and resource development are discussed.

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6. Jussila K, Junttila M, Kielinen M, Ebeling H, Joskitt L, Moilanen I, Mattila ML. Sensory Abnormality and Quantitative Autism Traits in Children With and Without Autism Spectrum Disorder in an Epidemiological Population. J Autism Dev Disord ;2019 (Oct 3)

Sensory abnormalities (SAs) are recognized features in Autism Spectrum Disorder (ASD), and a relationship between SAs and ASD traits is also suggested in general population. Our aims were to estimate the prevalence of SAs in three different settings, and to study the association between SAs and quantitative autism traits (QAT) using the Autism Spectrum Screening Questionnaire (ASSQ) and a parental questionnaire. In an epidemiological population of 8-year-old children (n = 4397), the prevalence of SAs was 8.3%, in an ASD sample (n = 28), 53.6%, and in a non-ASD sample (n = 4369), 8.0%, respectively. Tactile and auditory hypersensitivity predicted an ASD diagnosis. The ASSQ was able to differentiate children with and without SA. In conclusion, QAT level and SAs were associated in all study samples.

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7. Khan AA, Kirmani S. Mild presentation of the congenital variant Rett syndrome in a Pakistani male : expanding the phenotype of the forkhead box protein G1 spectrum. Clin Dysmorphol ;2019 (Oct 1)

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8. Mazurek MO, Stobbe G, Loftin R, Malow BA, Agrawal MM, Tapia M, Hess A, Farmer J, Cheak-Zamora N, Kuhlthau K, Sohl K. ECHO Autism Transition : Enhancing healthcare for adolescents and young adults with autism spectrum disorder. Autism ;2019 (Oct 3):1362361319879616.

Transition-age youth and young adults with autism spectrum disorder have complex healthcare needs, yet the current healthcare system is not equipped to adequately meet the needs of this growing population. Primary care providers lack training and confidence in caring for youth and young adults with autism spectrum disorder. The current study developed and tested an adaptation of the Extension for Community Healthcare Outcomes model to train and mentor primary care providers (n = 16) in best-practice care for transition-age youth and young adults with autism spectrum disorder. The Extension for Community Healthcare Outcomes Autism Transition program consisted of 12 weekly 1-h sessions connecting primary care providers to an interdisciplinary expert team via multipoint videoconferencing. Sessions included brief didactics, case-based learning, and guided practice. Measures of primary care provider self-efficacy, knowledge, and practice were administered pre- and post-training. Participants demonstrated significant improvements in self-efficacy regarding caring for youth/young adults with autism spectrum disorder and reported high satisfaction and changes in practice as a result of participation. By contrast, no significant improvements in knowledge or perceived barriers were observed. Overall, the results indicate that the model holds promise for improving primary care providers’ confidence and interest in working with transition-age youth and young adults with autism spectrum disorder. However, further refinements may be helpful for enhancing scope and impact on practice.

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9. Nudel R, Christiani CAJ, Ohland J, Uddin MJ, Hemager N, Ellersgaard DV, Spang KS, Burton BK, Greve AN, Gantriis DL, Bybjerg-Grauholm J, Jepsen JRM, Thorup AAE, Mors O, Nordentoft M, Werge T. Language deficits in specific language impairment, attention deficit/hyperactivity disorder, and autism spectrum disorder : An analysis of polygenic risk. Autism Res ;2019 (Oct 2)

Language is one of the cognitive domains often impaired across many neurodevelopmental disorders. While for some disorders the linguistic deficit is the primary impairment (e.g., specific language impairment, SLI), for others it may accompany broader behavioral problems (e.g., autism). The precise nature of this phenotypic overlap has been the subject of debate. Moreover, several studies have found genetic overlaps across neurodevelopmental disorders. This raises the question of whether these genetic overlaps may correlate with phenotypic overlaps and, if so, in what manner. Here, we apply a genome-wide approach to the study of the linguistic deficit in SLI, autism spectrum disorder (ASD), and attention deficit/hyperactivity disorder (ADHD). Using a discovery genome-wide association study of SLI, we generate polygenic risk scores (PRS) in an independent sample which includes children with language impairment, SLI, ASD or ADHD and age-matched controls and perform regression analyses across groups. The SLI-trained PRS significantly predicted risk in the SLI case-control group (adjusted R(2) = 6.24% ; P = 0.024) but not in the ASD or ADHD case-control groups (adjusted R(2) = 0.0004%, 0.01% ; P = 0.984, 0.889, respectively) nor for height, used as a negative control (R(2) = 0.2% ; P = 0.452). Additionally, there was a significant difference in the normalized PRS between children with SLI and children with ASD (common language effect size = 0.66 ; P = 0.044). Our study suggests no additive common-variant genetic overlap between SLI and ASD and ADHD. This is discussed in the context of phenotypic studies of SLI and related disorders. Autism Res 2019. (c) 2019 The Authors. Autism Research published by International Society for Autism Research published by Wiley Periodicals, Inc. LAY SUMMARY : Language deficits are characteristic of specific language impairment (SLI), but may also be found in other neurodevelopmental disorders, such as autism spectrum disorder (ASD) and attention deficit/hyperactivity disorder (ADHD). Many studies examined the overlaps and differences across the language deficits in these disorders, but few studies have examined the genetic aspect thereof. In this study, we use a genome-wide approach to evaluate whether common genetic variants increasing risk of SLI may also be associated with ASD and ADHD in the same manner. Our results suggest that this is not the case, and we discuss this finding in the context of theories concerning the etiologies of these disorders.

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10. Orozco JS, Hertz-Picciotto I, Abbeduto L, Slupsky CM. Metabolomics analysis of children with autism, idiopathic-developmental delays, and Down syndrome. Transl Psychiatry ;2019 (Oct 3) ;9(1):243.

Although developmental delays affect learning, language, and behavior, some evidence suggests the presence of disturbances in metabolism are associated with psychiatric disorders. Here, the plasma metabolic phenotype of children with autism spectrum disorder (ASD, n = 167), idiopathic-developmental delay (i-DD, n = 51), and Down syndrome (DS, n = 31), as compared to typically developed (TD, n = 193) controls was investigated in a subset of children from the case-control Childhood Autism Risk from Genetics and the Environment (CHARGE) Study. Metabolome profiles were obtained using nuclear magnetic resonance spectroscopy and analyzed in an untargeted manner. Forty-nine metabolites were identified and quantified in each sample that included amino acids, organic acids, sugars, and other compounds. Multiple linear regression analysis revealed significant associations between 11 plasma metabolites and neurodevelopmental outcome. Despite the varied origins of these developmental disabilities, we observed similar perturbation in one-carbon metabolism pathways among DS and ASD cases. Similarities were also observed in the DS and i-DD cases in the energy-related tricarboxylic acid cycle. Other metabolites and pathways were uniquely associated with DS or ASD. By comparing metabolic signatures between these conditions, the current study expands on extant literature demonstrating metabolic alterations associated with developmental disabilities and provides a better understanding of overlapping vs specific biological perturbations associated with these disorders.

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11. Pinkham AE, Morrison KE, Penn DL, Harvey PD, Kelsven S, Ludwig K, Sasson NJ. Comprehensive comparison of social cognitive performance in autism spectrum disorder and schizophrenia. Psychol Med ;2019 (Oct 2):1-9.

BACKGROUND : Autism spectrum disorder (ASD) and schizophrenia (SCZ) are separate neurodevelopmental disorders that are both characterized by difficulties in social cognition and social functioning. Due to methodological confounds, the degree of similarity in social cognitive impairments across these two disorders is currently unknown. This study therefore conducted a comprehensive comparison of social cognitive ability in ASD and SCZ to aid efforts to develop optimized treatment programs. METHODS : In total, 101 individuals with ASD, 92 individuals with SCZ or schizoaffective disorder, and 101 typically developing (TD) controls, all with measured intelligence in the normal range and a mean age of 25.47 years, completed a large battery of psychometrically validated social cognitive assessments spanning the domains of emotion recognition, social perception, mental state attribution, and attributional style. RESULTS : Both ASD and SCZ performed worse than TD controls, and very few differences were evident between the two clinical groups, with effect sizes (Cohen’s d) ranging from 0.01 to 0.34. For those effects that did reach statistical significance, such as greater hostility in the SCZ group, controlling for symptom severity rendered them non-significant, suggesting that clinical distinctions may underlie these social cognitive differences. Additionally, the strength of the relationship between neurocognitive and social cognitive performance was of similar, moderate size for ASD and SCZ. CONCLUSIONS : Findings largely suggest comparable levels of social cognitive impairment in ASD and SCZ, which may support the use of existing social cognitive interventions across disorders. However, future work is needed to determine whether the mechanisms underlying these shared impairments are also similar or if these common behavioral profiles may emerge via different pathways.

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12. Schelinski S, von Kriegstein K. Brief Report : Speech-in-Noise Recognition and the Relation to Vocal Pitch Perception in Adults with Autism Spectrum Disorder and Typical Development. J Autism Dev Disord ;2019 (Oct 3)

We tested the ability to recognise speech-in-noise and its relation to the ability to discriminate vocal pitch in adults with high-functioning autism spectrum disorder (ASD) and typically developed adults (matched pairwise on age, sex, and IQ). Typically developed individuals understood speech in higher noise levels as compared to the ASD group. Within the control group but not within the ASD group, better speech-in-noise recognition abilities were significantly correlated with better vocal pitch discrimination abilities. Our results show that speech-in-noise recognition is restricted in people with ASD. We speculate that perceptual impairments such as difficulties in vocal pitch perception might be relevant in explaining these difficulties in ASD.

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13. Siniscalco D, Antonucci N. Cellular therapy for autism spectrum disorder : a step forward to the optimal treatments. Ann Transl Med ;2019 (Jul) ;7(Suppl 3):S110.

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14. Slaughter-Acey JC, Saintil S. Hospitalization rates of children by developmental disability, maternal nativity, and Indigenous status : the complexity of intersectionality. Dev Med Child Neurol ;2019 (Oct 3)

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15. Smele S, Quinlan A, Fogel C. Sexual Assault Policing and Justice for People With Developmental Disabilities. Violence Vict ;2019 (Oct 1) ;34(5):818-837.

The Services and Supports to Promote Social Inclusion of Persons With Developmental Disabilities Act that passed in 2008 was intended to improve services and supports for persons with developmental disabilities in Ontario, Canada. This legislation introduced a new mandatory police reporting policy for any suspected abuse, including sexual assault. While heralded as a significant advancement, questions remain about the policy and the Canadian criminal justice system’s capacity to effectively respond to abuse of people with developmental disabilities. Drawing on qualitative interview data with police investigators and Victim Crisis Services employees in Ontario, this article examines how police respond to these reports. The findings highlight the need for more clearly defined protocols and training on these types of sexual assault investigations and increased provision and coordination of appropriate support for victims/survivors with developmental disabilities.

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16. Yehia L, Ni Y, Feng F, Seyfi M, Sadler T, Frazier TW, Eng C. Distinct Alterations in Tricarboxylic Acid Cycle Metabolites Associate with Cancer and Autism Phenotypes in Cowden Syndrome and Bannayan-Riley-Ruvalcaba Syndrome. Am J Hum Genet ;2019 (Oct 3) ;105(4):813-821.

Germline heterozygous PTEN mutations cause subsets of Cowden syndrome (CS) and Bannayan-Riley-Ruvalcaba syndrome (BRRS) ; these subsets are characterized by high risks of breast, thyroid, and other cancers and, in one subset, autism spectrum disorder (ASD). Up to 10% of individuals with PTEN(MUT) CS, CS-like syndrome, or BRRS have germline SDHx (succinate dehydrogenase, mitochondrial complex II) variants, which modify cancer risk. PTEN contributes to metabolic reprogramming ; this is a well-established role in a cancer context. Relatedly, SDH sits at the crossroad of the electron transport chain and tricarboxylic acid (TCA) cycle, two central bioenergetic pathways. Intriguingly, PTEN(MUT) and SDH(MUT) individuals have reduced SDH catalytic activity, resulting in succinate accumulation ; this indicates a common genotype-independent biochemical alteration. Here, we conducted a TCA targeted metabolomics study on 511 individuals with CS, CS-like syndrome, or BRRS with various genotypes (PTEN or SDHx, mutant or wild type [WT]) and phenotypes (cancer or ASD) and a series of 187 population controls. We found consistent TCA cycle metabolite alterations in cases with various genotypes and phenotypes compared to controls, and we found unique correlations of individual metabolites with particular genotype-phenotype combinations. Notably, increased isocitrate (p = 1.2 x 10(-3)), but reduced citrate (p = 5.0 x 10(-4)), were found to be associated with breast cancer in individuals with PTEN(MUT)/SDHx(WT). Conversely, increased lactate was associated with neurodevelopmental disorders regardless of genotype (p = 9.7 x 10(-3)) ; this finding was replicated in an independent validation series (n = 171) enriched for idiopathic ASD (PTEN(WT), p = 5.6 x 10(-4)). Importantly, we identified fumarate (p = 1.9 x 10(-2)) as a pertinent metabolite, distinguishing individuals who develop ASD from those who develop cancer. Our observations suggest that TCA cycle metabolite alterations are germane to the pathobiology of PTEN-related CS and BRRS, as well as genotype-independent ASD, with implications for potential biomarker and/or therapeutic value.

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17. Zhang L, Weitlauf AS, Amat AZ, Swanson A, Warren ZE, Sarkar N. Assessing Social Communication and Collaboration in Autism Spectrum Disorder Using Intelligent Collaborative Virtual Environments. J Autism Dev Disord ;2019 (Oct 3)

Existing literature regarding social communication outcomes of interventions in autism spectrum disorder (ASD) depends upon human raters, with limited generalizability to real world settings. Technological innovation, particularly virtual reality (VR) and collaborative virtual environments (CVE), could offer a replicable, low cost measurement platform when endowed with intelligent agent technology and peer-based interactions. We developed and piloted a novel collaborative virtual environment and intelligent agent (CRETA) for the assessment of social communication and collaboration within system and peer interactions. The system classified user statements with moderate to high accuracies. We found moderate to high agreement in displayed communication and collaboration skills between human-human and human-agent interactions. CRETA offers a promising avenue for future development of autonomous measurement systems for ASD research.

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18. Zhu V, Dalby-Payne J. Feeding difficulties in children with autism spectrum disorder : Aetiology, health impacts and psychotherapeutic interventions. J Paediatr Child Health ;2019 (Oct 1)

Feeding difficulties are common and significant issues for children with autism spectrum disorder and their families. Key features of autism are intrinsically linked with factors contributing to these children’s feeding difficulties. Following a multidisciplinary assessment to exclude non-behavioural reasons for the feeding difficulty, there are two mainstay modalities of treatment : operant conditioning and systematic desensitisation. Currently, evidence points towards operant conditioning as the most efficacious psychotherapy. However, recent research into cognitive behavioural therapy for older children with feeding difficulties has shown promising results and will be an area to monitor in the coming years. This review outlines the causes and health impacts and evaluates current evidence supporting the available psychotherapeutic interventions for children with autism spectrum disorder experiencing feeding difficulties.

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