Pubmed du 07/08/19

mercredi 7 août 2019

1. MMR vaccine does not cause autism. J Paediatr Child Health ;2019 (Aug) ;55(8):996.

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2. Benachenhou S, Etcheverry A, Galarneau L, Dube J, Caku A. Implication of hypocholesterolemia in autism spectrum disorder and its associated comorbidities : A retrospective case-control study. Autism Res ;2019 (Aug 6)

Autism spectrum disorder (ASD) has been associated with low cholesterol levels in a limited number of studies. However, the prevalence of hypocholesterolemia as well as the degree of association with ASD remains to be elucidated. We therefore sought to investigate the lipid profiles of a group of French-Canadian ASD individuals. The medical records of 79 ASD individuals and 79 age and gender-matched healthy controls were retrospectively reviewed. The fasting lipid profiles including total cholesterol (TC), high-density lipoprotein, triglycerides, and low-density lipoprotein were extracted for individuals of both groups along with the following clinical data : anthropometric measurements, medication use and associated disorders. Lipid parameters were compared to age and gender-based normative population and categorized in centile groups. The prevalence of hypocholesterolemia was revealed to be more than threefold higher in ASD individuals as compared to the general population (23% ; P = 0.005). The 25th centile was determined as a potential TC threshold that could best predict the ASD (odds ratio [OR] = 3.04 ; 95% confidence interval [CI] : 1.58-6.65 ; P < 0.001). This study identified specific ASD comorbidities associated with hypocholesterolemia : TC levels below the 10th centile were associated with a higher rate of ASD-associated intellectual disability (OR = 3.33 ; 95% CI : 1.26-8.00) and anxiety/depression (OR = 4.74 ; 95% CI : 1.40-15.73). Overall, these results support a potential association between hypocholesterolemia and ASD occurrence. Application of this study to larger populations is urging to provide more extensive data that may further elucidate the association between hypocholesterolemia and ASD. Autism Res 2019, 00 : 1-10. (c) 2019 International Society for Autism Research, Wiley Periodicals, Inc. LAY SUMMARY : Association of autism spectrum disorder (ASD) with abnormally low levels of cholesterol (hypocholesterolemia) has been documented before. These studies were incomplete, and the conclusion remains speculative. Here, we reviewed the medical records of 79 French-Canadian ASD individuals and compared their total cholesterol (TC) levels to healthy individuals matched for age and gender. We observed four times more hypocholesterolemia in ASD than in the general population. Furthermore, low TC in ASD was associated with higher rates of ASD-associated intellectual disability and anxiety/depression. Our results support an association between hypocholesterolemia and ASD and open novel opportunities for the diagnosis and treatment of specific forms of ASD.

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3. Brass CR, Mandell DJ. Where have all the children gone ? Intentional communities for adults with autism. Cleve Clin J Med ;2019 (Aug) ;86(8):554-558.

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4. Estes A, St John T, Dager SR. What to Tell a Parent Who Worries a Young Child Has Autism. JAMA Psychiatry ;2019 (Aug 7)

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5. Gonzalez-Cortes T, Gutierrez-Contreras E, Espino-Silva PK, Haro-Santa Cruz J, Alvarez-Cruz D, Rosales-Gonzalez CC, Sida-Godoy C, Nava-Hernandez MP, Lopez-Marquez FC, Ruiz-Flores P. Clinical Profile of Autism Spectrum Disorder in a Pediatric Population from Northern Mexico. J Autism Dev Disord ;2019 (Aug 5)

Autism spectrum disorder (ASD) is a neurodevelopmental condition classified based on needs of support, in order to address impairments in the areas of social communication and restricted and repetitive behavior. The aim of this work is to describe the main clinical features of the ASD severity levels in a group of Mexican pediatric patients. The results show firstly that this condition was more frequent in males than females. Secondly, an inverse relationship was found between the intellectual coefficient and the level of severity of the disorder. Thirdly, deficits in social reciprocity and communication were more evident in Level 3, than in Levels 1 and 2, while the difference was less evident in restricted and repetitive patterns of behavior.

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6. Grandgeorge M, Dubois E, Alavi Z, Bourreau Y, Hausberger M. Do Animals Perceive Human Developmental Disabilities ? Guinea Pigs’ Behaviour with Children with Autism Spectrum Disorders and Children with Typical Development. A Pilot Study. Animals (Basel) ;2019 (Aug 2) ;9(8)

Some cues used by humans and animals during human-animal interactions may have significant effects, modulating these interactions (e.g., gaze direction, heart rate). This study aimed to determine whether an animal in human-animal interactions is capable of "perceiving" its human partner’s potential developmental "disabilities". To test this hypothesis, we studied guinea pigs (GP) behaviours in the presence of 44 6-to-12-year-old children with either typical development (TD children) or with autism spectrum disorders (ASD children). Thus, we recorded the GP behaviours during the entire session (to establish their time budget) and focused in particular on the onset and end of physical interactions. The GP behaviours (e.g., feeding, resting, self-grooming, exploring) were not significantly different between the two groups of children during the whole session. GP behaviours in the presence of children differed slightly when encountering ASD children versus TD children : more positive behaviours toward ASD children at the onset, more feeding and resting in the presence of TD children toward the end of an interaction. TD children showed longer-lasting interactions. One could explain this by GP curiosity toward ASD children behaviours (e.g., no marked behaviours such as attempts to touch), whereas GPs seemed calmer at the end with TD children (i.e., interacting with ASD children may be a little stressful). This partly gave support to our study’s hypothesis. GPs seemed to perceive developmental disabilities during a first encounter with children and to adjust their behaviours to that of children. We discuss the issues of animal training, animals’ well-being and acute stress, whether they are pets or used in animal-assisted interventions. Further studies (on pets or animal-assisted interventions) are warranted.

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7. Hu VW, Devlin CA, Debski JJ. ASD Phenotype-Genotype Associations in Concordant and Discordant Monozygotic and Dizygotic Twins Stratified by Severity of Autistic Traits. Int J Mol Sci ;2019 (Aug 3) ;20(15)

Autism spectrum disorder (ASD) is a highly heterogeneous neurodevelopmental disorder characterized by impaired social communication coupled with stereotyped behaviors and restricted interests. Despite the high concordance rate for diagnosis, there is little information on the magnitude of genetic contributions to specific ASD behaviors. Using behavioral/trait severity scores from the Autism Diagnostic Interview-Revised (ADI-R) diagnostic instrument, we compared the phenotypic profiles of mono- and dizygotic twins where both co-twins were diagnosed with ASD or only one twin had a diagnosis. The trait distribution profiles across the respective twin populations were first used for quantitative trait association analyses using publicly available genome-wide genotyping data. Trait-associated single nucleotide polymorphisms (SNPs) were then used for case-control association analyses, in which cases were defined as individuals in the lowest (Q1) and highest (Q4) quartiles of the severity distribution curves for each trait. While all of the ASD-diagnosed twins exhibited similar trait severity profiles, the non-autistic dizygotic twins exhibited significantly lower ADI-R item scores than the non-autistic monozygotic twins. Case-control association analyses of twins stratified by trait severity revealed statistically significant SNPs with odds ratios that clearly distinguished individuals in Q4 from those in Q1. While the level of shared genomic variation is a strong determinant of the severity of autistic traits in the discordant non-autistic twins, the similarity of trait profiles in the concordantly autistic dizygotic twins also suggests a role for environmental influences. Stratification of cases by trait severity resulted in the identification of statistically significant SNPs located near genes over-represented within autism gene datasets.

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8. Kernohan KD, McBride A, Hartley T, Rojas SK, Dyment DA, Boycott KM, Dyack S. p21 protein-activated kinase 1 (PAK1) is associated with severe regressive autism, and epilepsy. Clin Genet ;2019 (Aug 7)

The PAK family of proteins function as key effectors of RHO family GTPases in mammalian cells to regulate many pathways including Ras/Raf/MEK/ERK and Wnt/beta-catenin, amongst others. Here we report an individual with a novel autosomal dominant disorder characterized by severe regressive autism, intellectual disability, and epilepsy. Exome sequencing of the proband and her parents revealed a de novo variant in the PAK1 gene ([NM_001128620] c.362C > T/p.Pro121Leu). Studies in patient cells demonstrated a clear effect on PAK1 protein function, including altered phosphorylation of targets (JNK and ERK), decreased abundance of beta-catenin, and concomitant altered expression downstream of these key regulators. Our findings add PAK1 to the list of PAK proteins and kinases which when mutated cause rare genetic diseases. This article is protected by copyright. All rights reserved.

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9. Kim JW, Park K, Kang RJ, Gonzales EL, Oh HA, Seung H, Ko MJ, Cheong JH, Chung C, Shin CY. Gene-environment interaction counterbalances social impairment in mouse models of autism. Sci Rep ;2019 (Aug 7) ;9(1):11490.

Autism spectrum disorder (ASD) is a neurodevelopmental disorder characterized by social communication deficits and repetitive/restricted behaviors. Although gene-environment interactions may explain the heterogeneous etiology of ASD, it is still largely unknown how the gene-environment interaction affects behavioral symptoms and pathophysiology in ASD. To address these questions, we used Cntnap2 knockout mice (genetic factor, G) exposed to valproic acid during embryonic development (environmental factor, E) as a gene-environment interaction (G x E) model. Paradoxically, the social deficits observed in the respective G and E models were improved in the G x E model ; however, the high seizure susceptibility was more severe in the G x E -model than in the G and E models. Repetitive self-grooming and hyperactivity did not differ among the three models. The amplitudes of miniature excitatory postsynaptic currents in layer 2/3 pyramidal neurons of the medial prefrontal cortex were aberrant and similar in the G x E model when compared to the control group. Our findings suggest that the interaction of two risk factors does not always aggravate ASD symptoms but can also alleviate them, which may be key to understanding individual differences in behavioral phenotypes and symptom intensity.

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10. Maddox BB, Crabbe SR, Fishman JM, Beidas RS, Brookman-Frazee L, Miller JS, Nicolaidis C, Mandell DS. Factors Influencing the Use of Cognitive-Behavioral Therapy with Autistic Adults : A Survey of Community Mental Health Clinicians. J Autism Dev Disord ;2019 (Aug 5)

Cognitive-behavioral therapy (CBT) can improve anxiety and depression in autistic adults, but few autistic adults receive this treatment. We examined factors that may influence clinicians’ use of CBT with autistic adults. One hundred clinicians completed an online survey. Clinicians reported stronger intentions (p = .001), more favorable attitudes (p < .001), greater normative pressure (p < .001), and higher self-efficacy (p < .001) to start CBT with non-autistic adults than with autistic adults. The only significant predictor of intentions to begin CBT with clients with anxiety or depression was clinicians’ attitudes (p < .001), with more favorable attitudes predicting stronger intentions. These findings are valuable for designing effective, tailored implementation strategies to increase clinicians’ adoption of CBT for autistic adults.

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11. Posar A, Visconti P. Autism spectrum disorder today : not only genetics. Turk Pediatri Ars ;2019 ;54(2):137-138.

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12. Rankin JA, Tomeny TS. Screening of Broader Autism Phenotype Symptoms in Siblings : Support for a Distinct Model of Symptomatology. J Autism Dev Disord ;2019 (Aug 5)

Research on siblings of youth with autism spectrum disorder (ASD) suggests that some phenotypic presentation, known as the broader autism phenotype (BAP), is common among siblings without an ASD diagnosis (e.g., Ruzich et al. in Autism Res 9(6):658-665, 2016). Whereas the symptoms that underlie both ASD and the BAP share commonality, the structure of these symptoms in youth with ASD and their siblings may differ. The current study assessed whether differences arise in the factor structure of the Children’s Social Behavior Questionnaire (CSBQ) between youth with ASD and their siblings in a sample of 221 sibling dyads. Results suggest similar factor structures for ASD and BAP ; however, number of symptoms endorsed, as opposed to the degree of severity, may better differentiate BAP.

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13. Steinman G, Mankuta D. Molecular biology of autism’s etiology - An alternative mechanism. Med Hypotheses ;2019 (Sep) ;130:109272.

Autism is a neuropathologic condition believed to be the consequence of cerebral dysconnectivity. Hypomyelination of axons in brain nerve pathways parallels behavioral abnormalities characteristic of autism. The present discussion will examine the functional association of insulin-like growth factor-1 (IGF1) to neo-neuron myelination, especially in autistic children. These structural defects apparently correlate with a reduced level of circulating IGF. In addition, the potential connection of single nucleotide polymorphism to the etiology of autism is considered. Pharmaceutical and nutritional supplements that may enhance IGF1 to reduce the incidence of autism are proposed.

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14. Sukhodolsky DG, Lecavalier L, Johnson C, Smith T, Swiezy N, Bearss K, Kalvin CB, Scahill L. Anxiety in 3- to 7-year-old children with autism spectrum disorder seeking treatment for disruptive behavior. Autism ;2019 (Aug 7):1362361319866561.

Anxiety is a common and impairing problem in children with autism spectrum disorder, but little is known about it in preschool children with autism spectrum disorder. This article reports on the characteristics of anxiety symptoms in young children with autism spectrum disorder using a parent-completed rating scale. One hundred and eighty children (age 3-7 years) participated in a clinical trial of parent training for disruptive behaviors. Anxiety was measured as part of pre-treatment subject characterization with 16 items from the Early Childhood Inventory, a parent-completed scale on child psychiatric symptoms. Parents also completed other measures of behavioral problems. Sixty-seven percent of children were rated by their parents as having two or more clinically significant symptoms of anxiety. There were no differences in the Early Childhood Inventory anxiety severity scores of children with IQ < 70 and those with 70. Higher levels of anxiety were associated with severity of oppositional defiant behavior and social disability. Anxiety symptoms are common in preschoolers with autism spectrum disorder. These findings are consistent with earlier work in school-age children with autism spectrum disorder. There were no differences in anxiety between children with IQ below 70 and those with IQ of 70 and above. Social withdrawal and oppositional behavior were associated with anxiety in young children with autism spectrum disorder.

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15. Swetlik C, Earp SE, Franco KN. Adults with autism spectrum disorder : Updated considerations for healthcare providers. Cleve Clin J Med ;2019 (Aug) ;86(8):543-553.

Children with autism spectrum disorder (ASD) eventually grow up and need to make the transition from pediatric services to adult. This is a diverse patient population.

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16. Vukicevic S, Dordevic M, Glumbic N, Bogdanovic Z, Duric Jovicic M. A Demonstration Project for the Utility of Kinect-Based Educational Games to Benefit Motor Skills of Children with ASD. Percept Mot Skills ;2019 (Aug 7):31512519867521.

Motor disorders often accompany autism spectrum disorder (ASD), although they are not included in its diagnostic criteria. Slower motor development is evident in early childhood in this population, making early motor skills intervention advisable. As educational games and modern technology can represent new forms of treatment, this study evaluated four Kinect-based visuo-motor games called Fruits that were specially designed for this research. We sought to test whether children with ASD would show behavior changes during their game play and whether any effects would generalize to another game called Rackets. The study included 10 elementary school children with ASD, aged 9-13 years, who were divided into (a) an experimental group (n = 5) who, in addition to standard treatment, played Fruits once a week for a 5-week period and Rackets both before and after the 5-week period and (b) a control group (n = 5) who received only standard treatment during this period and also played Rackets before and after it. We found significant improvements in gross motor skills and successful generalization of acquired skills among children in the experimental group relative to the control group. The experimental group also showed an increase in positive emotions and a decrease in loss of attention while playing the games. These preliminary findings indicate a motor skill benefit for children with ASD who play Kinect-based educational games, but further research is needed to replicate and expand these findings with larger participant samples.

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17. Wong CH, Gau SS, Chou TL. Neural correlates of association strength and categorical relatedness in youths with autism spectrum disorder. Autism Res ;2019 (Aug 6)

Impaired language and communication are commonly observed in youths with autism spectrum disorders (ASDs). However, the organization of semantic knowledge in youths with ASD remains unclear compared to typically developing (TD) youths. The present study addresses this issue by using functional magnetic resonance imaging (fMRI) to examine the distinction between association strength and categorical relatedness of semantic knowledge. A sample of 31 male youths with ASD (mean age = 12.1 years, SD = 1.2) and 38 TD youths (mean age = 11.9 years, SD = 1.0) was recruited with matched age, gender, and handedness. Participants decided if two visually presented Chinese characters were semantically related during fMRI scanning. For weaker association strength, the ASD group showed greater left cuneus activation, which was positively correlated with the picture completion for visual perception, whereas the TD group showed greater middle temporal gyrus and inferior frontal gyrus activation. For higher categorical relatedness, the TD group showed greater activation than the ASD group in the occipitotemporal cortex and left precuneus, which was positively correlated with the similarities for concept formulation. Findings imply that the ASD group may use lower-level visual information for both association strength and categorical relatedness. The TD group showed higher-level controlled processes of more elaborate semantic representations for association strength and more elaborate features of categorical knowledge for semantic selection and integration. Autism Res 2019, 00 : 1-11. (c) 2019 International Society for Autism Research, Wiley Periodicals, Inc. LAY SUMMARY : Individuals with autism spectrum disorder (ASD) often present language/communication impairments. Exploring the difference of semantic processing between youths with ASD and typically developing (TD) youths is crucial for understanding the organization of semantic knowledge. We found different neural substrates of semantic knowledge between these two groups. ASD youths may rely more on lower-level visual information during semantic judgments, whereas TD youths showed higher-level controlled processes of more elaborate semantic representations for selection and integration of words, phrases, and sentences.

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18. Zhang B, Zhou Z, Zhou Y, Zhang T, Ma Y, Niu Y, Ji W, Chen Y. Social-valence-related increased attention in rett syndrome cynomolgus monkeys : An eye-tracking study. Autism Res ;2019 (Aug 7)

The cognitive phenotypes of Rett syndrome (RTT) remain unclarified compared with the well-defined genetic etiology. Recent clinical studies suggest the eye-tracking method as a promising avenue to quantify the visual phenotypes of the syndrome. The present study explored various aspects of visual attention of the methyl-CpG-binding protein 2 gene mutant RTT monkeys with the eye-tracking procedure. Comprehensive testing paradigms, including social valence comparison (SVC), visual paired comparison (VPC), and social recognition memory (SRM), were utilized to investigate their attentional features to social stimuli with differential valence, the novelty preferences, and short-term recognition memory, respectively. To explore the neurobiological mechanisms underlying the eye-tracking findings, we assessed changes of the brain subregion volumes and neurotransmitter concentrations. Compared with control monkeys, RTT monkeys demonstrated increased viewing on the more salient stare faces than profile faces in the SVC test, and increased viewing on the whole presented images composed of monkey faces in the VPC and SRM tests. Brain imaging revealed reduced bilateral occipital gyrus in RTT monkeys. The exploratory neurotransmitter analyses revealed no significant changes of various neurotransmitter concentrations in the cerebrospinal fluid and blood of RTT monkeys. The eye-tracking results suggested social-valence-related increased attention in RTT monkeys, supplementing the cognitive phenotypes associated with the syndrome. Further investigations from broader perspectives are required to uncover the underlying neurobiological mechanisms. Autism Res 2019, 00 : 1-13. (c) 2019 International Society for Autism Research, Wiley Periodicals, Inc. LAY SUMMARY : Altered expressions of the methyl-CpG-binding protein 2 (MECP2) gene are usually associated with neurodevelopmental disorders, such as autism spectrum disorders, Rett syndrome (RTT), and so forth. The present eye-tracking study found social-valence-related increased attention in our firstly established MECP2 mutant RTT monkeys. The novel findings supplement the cognitive phenotypes and potentially benefit the behavioral interventions of the RTT syndrome.

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