Pubmed du 09/02/19

samedi 9 février 2019

1. Davidson MM, Ellis Weismer S. A Preliminary Investigation of Parent-reported Fiction versus Non-fiction Book Preferences of School-Age Children with Autism Spectrum Disorder. Autism & developmental language impairments. 2018 ; 3.

Background & Aims : Anecdotal evidence suggests that individuals with autism spectrum disorder (ASD) prefer non-fiction books over fiction books. The current study was the first to investigate parent-reports of children with ASD’s fiction and non-fiction book preferences and whether these relate to individual differences in social communication, oral language, and/or reading abilities. Method : Children (ages 8-14 years, M = 10.89, SD = 1.17) with ASD diagnoses (n = 19) and typically developing (TD) peers (n = 21) participated. Children completed standardized measures of social communication, oral language, and reading abilities. Parents reported children’s current favorite book, and from these responses, we coded children’s fiction versus non-fiction book preferences. Main Contribution : Contrary to anecdotal evidence, children with ASD preferred fiction similar to their TD peers. Fiction versus non-fiction book preference was significantly related to social communication abilities across both groups. Children’s oral language and reading abilities were related, as expected, but the evidence for a relationship between social communication and reading comprehension was mixed. Conclusions : This study provides preliminary evidence supporting the association of social communication in fiction versus non-fiction book preference, which may be related to children’s comprehension and support the theoretical role of social communication knowledge in narrative/fiction. Implications : It should not be assumed that all children with ASD prefer expository/non-fiction or do not read narrative/fiction. Children who prefer non-fiction may need additional social communication knowledge support to improve their understanding of narrative fiction.

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2. Davila-Ortiz de Montellano DJ, Jara-Prado A, Rodriguez-Violante M, Camacho-Molina A, Carnevale A, Fresan-Orellana A, Camarena-Medellin B, Sanchez-Garcia D, Sotelo J. Low diagnostic accuracy of fragile X tremor/ataxia syndrome diagnostic criteria in late onset ataxia. Movement disorders : official journal of the Movement Disorder Society. 2019.

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3. Hohn VD, de Veld DMJ, Mataw KJS, van Someren EJW, Begeer S. Insomnia Severity in Adults with Autism Spectrum Disorder is Associated with sensory Hyper-Reactivity and Social Skill Impairment. J Autism Dev Disord. 2019.

Insomnia is a common source of distress in adults with autism spectrum disorder (ASD). Two characteristics of ASD could be relevant to insomnia complaints by hampering the entrainment of a circadian sleep-wake rhythm. First, sensory hyper-reactivity could lead to bright light avoidance and thus affect photoperiodic input to the circadian system. Second, impaired social skills complicate the establishment of a social interactions and thus affect scheduled social-behavioral input to the circadian system. We investigated the association of insomnia severity with sensory reactivity and social skills in 631 adults (18-65 years) with ASD. Results revealed positive associations of insomnia severity with general and visual sensory hyper-reactivity and with impairment of social skills. The findings warrant further studies which (1) directly assess whether a suboptimal functioning of the biological clock underlies these associations and (2) identify other factors that could contribute to observed sleep problems.

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4. James DM, Kozol RA, Kajiwara Y, Wahl AL, Storrs EC, Buxbaum JD, Klein M, Moshiree B, Dallman JE. Intestinal dysmotility in a zebrafish (Danio rerio) shank3a ;shank3b mutant model of autism. Mol Autism. 2019 ; 10 : 3.

Background and aims : Autism spectrum disorder (ASD) is currently estimated to affect more than 1% of the world population. For people with ASD, gastrointestinal (GI) distress is a commonly reported but a poorly understood co-occurring symptom. Here, we investigate the physiological basis for GI distress in ASD by studying gut function in a zebrafish model of Phelan-McDermid syndrome (PMS), a condition caused by mutations in the SHANK3 gene. Methods : To generate a zebrafish model of PMS, we used CRISPR/Cas9 to introduce clinically related C-terminal frameshift mutations in shank3a and shank3b zebrafish paralogues (shank3abDeltaC). Because PMS is caused by SHANK3 haploinsufficiency, we assessed the digestive tract (DT) structure and function in zebrafish shank3abDeltaC (+/-) heterozygotes. Human SHANK3 mRNA was then used to rescue DT phenotypes in larval zebrafish. Results : Significantly slower rates of DT peristaltic contractions (p < 0.001) with correspondingly prolonged passage time (p < 0.004) occurred in shank3abDeltaC (+/-) mutants. Rescue injections of mRNA encoding the longest human SHANK3 isoform into shank3abDeltaC (+/-) mutants produced larvae with intestinal bulb emptying similar to wild type (WT), but still deficits in posterior intestinal motility. Serotonin-positive enteroendocrine cells (EECs) were significantly reduced in both shank3abDeltaC (+/-) and shank3abDeltaC (-/-) mutants (p < 0.05) while enteric neuron counts and overall structure of the DT epithelium, including goblet cell number, were unaffected in shank3abDeltaC (+/-) larvae. Conclusions : Our data and rescue experiments support mutations in SHANK3 as causal for GI transit and motility abnormalities. Reductions in serotonin-positive EECs and serotonin-filled ENS boutons suggest an endocrine/neural component to this dysmotility. This is the first study to date demonstrating DT dysmotility in a zebrafish single gene mutant model of ASD.

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5. Knight VF, Wright J, DeFreese A. Teaching Robotics Coding to a Student with ASD and Severe Problem Behavior. J Autism Dev Disord. 2019.

Research on teaching STEM, especially in the areas of teaching coding for students with ASD, is lacking. The purpose of the current study was to evaluate the effects of using model-lead-test to teach an elementary-aged student with ASD and severe problem behavior the following dependent variables : (a) calibrating the robot ; (b) drawing tracks for the robot to follow ; and (c) creating a code (e.g., to make the robot move quickly). Results of the multiple probe across skills design demonstrate a functional relation between the model-lead-test strategy and the acquisition of all of the skills. Further, he generalized the coding skill to novel codes, and maintained the skills over time. Implications, study limitations, and recommendations for future research are discussed.

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6. Lintas C, Sacco R, Tabolacci C, Brogna C, Canali M, Picinelli C, Tomaiuolo P, Castronovo P, Baccarin M, Persico AM. An Interstitial 17q11.2 de novo Deletion Involving the CDK5R1 Gene in a High-Functioning Autistic Patient. Molecular syndromology. 2019 ; 9(5) : 247-52.

We describe a 32-year-old male patient diagnosed with high-functioning autism spectrum disorder carrying a de novo 196-kb interstitial deletion at chromosome 17q11.2. The deletion was detected by array CGH (180K Agilent) and confirmed by quantitative PCR on genomic DNA. The deleted region spans the entire PSMD11 and CDK5R1 genes and partially the MYO1D gene. The CDK5R1 gene encodes for a regulatory subunit of the cyclin-dependent kinase 5 responsible for its brain-specific activation. This gene has been previously associated with intellectual disability in humans. A reduction in CDK5R1 transcript was detected, consistent with the genomic deletion. Based on the functional role of CDK5R1, this gene appears as the best candidate to explain the clinical phenotype of our patient, whose neuropsychological profile has more resemblance with some of the higher brain function anomalies recently described in the CreER-p35 conditional knockout mouse model than previously described patients with intellectual disability.

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7. Liu A, Zhou W, Qu L, He F, Wang H, Wang Y, Cai C, Li X, Zhou W, Wang M. Altered Urinary Amino Acids in Children With Autism Spectrum Disorders. Frontiers in cellular neuroscience. 2019 ; 13 : 7.

Autism spectrum disorders (ASD) affect 1% of children. Although there is no cure, early diagnosis and behavioral intervention can relieve the symptoms. The clinical heterogeneity of ASD has created a need for improved sensitive and specific laboratory diagnostic methods. Liquid chromatography-tandem mass spectrometry (LC-MS/MS)-based analysis of the metabolome has shown great potential to uncover biomarkers for complex diseases such as ASD. Here, we used a two-step discovery-validation approach to identify potential novel metabolic biomarkers for ASD. Urine samples from 57 children with ASD and 81 matched children with typical development (TD) were analyzed by LS-MS/MS to assess differences in urinary amino acids and their metabolites (referred to as UAA indicators). A total of 63 UAA indicators were identified, of which 21 were present at significantly different levels in the urine of ASD children compared with TD children. Of these 21, the concentrations of 19 and 10 were higher and lower, respectively, in the urine of ASD children compared with TD children. Using support vector machine modeling and receiver operating characteristic curve analysis, we identified a panel of 7 UAA indicators that discriminated between the samples from ASD and TD children (lysine, 2-aminoisobutyric acid, 5-hydroxytryptamine, proline, aspartate, arginine/ornithine, and 4-hydroxyproline). Among the significantly changed pathways in ASD children were the ornithine/urea cycle (decreased levels of the excitatory amino acid aspartate [p = 2.15 x 10(-10)] and increased arginine/ornithine [p = 5.21 x 10(-9)]), tryptophan metabolism (increased levels of inhibitory 5-hydroxytryptamine p = 3.62 x 10(-9)), the methionine cycle (increased methionine sulfoxide [p = 1.46 x 10(-10)] and decreased homocysteine [p = 2.73 x 10(-7)]), and lysine metabolism (reduced lysine [p = 7.8 x 10(-9)], alpha-aminoadipic acid [p = 1.16 x 10(-9)], and 5-aminovaleric acid [p = 1.05 x 10(-5)]). Collectively, the data presented here identify a possible imbalance between excitatory and inhibitory amino acid metabolism in ASD children. The significantly altered UAA indicators could therefore be potential diagnostic biomarkers for ASD.

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8. Lung FW, Shu BC, Chiang TL, Lin SJ. Prevalence of bullying and perceived happiness in adolescents with learning disability, intellectual disability, ADHD, and autism spectrum disorder : In the Taiwan Birth Cohort Pilot Study. Medicine. 2019 ; 98(6) : e14483.

Children with learning disability (LD), intellectual disability (ID), attention-deficit/hyperactivity disorder (ADHD), and autism spectrum disorder (ASD) reported higher risk of being bullied compared to their peers. Controlling for the co-morbidity of different diagnosis is important in investigating the frequency of bullying. Therefore, this study aimed to investigate the pathway relationship of adolescents’ psychiatric diagnoses, including LD, ID, ADHD, ASD, with being bullied, their self-perceived psychological well-being (PWB) and social adaptation status (SAS) in 12-years-olds.The Taiwan Birth Cohort Pilot Study dataset (N = 1561) was used. The Chinese Oxford Happiness Questionnaire was used to measure PWB and SAS.Adolescent-reported rate of bullying was 25.4%, while only 2.8% of the parents reported knowing their child had been bullied. Boys reported higher rate of being bullied than girls. Adolescents with ADHD were not at higher risk of being bullied compared to their peers, nevertheless, they perceived lower level of SAS. Adolescents diagnosed with ID and ASD reported 63% rate of bullying and those who have been bullied perceived lower level of happiness.Adolescents with ADHD reported lower level of SAS, for disruption of harmony is even less acceptable in the Asian culture. Adolescents with ID and ASD reported higher rate of bullying than their peers and perceived lower level of happiness. A gap was found between parent and adolescent-reported rate of bullying. Encouraging adolescents to seek adult protection and support to reduce the effect of bullying on the perceived level of happiness is important.

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9. McLeod JD, Meanwell E, Hawbaker A. The Experiences of College Students on the Autism Spectrum : A Comparison to Their Neurotypical Peers. J Autism Dev Disord. 2019.

This study describes the academic, social, and health experiences of college students on the autism spectrum as they compare to students with other disabilities and their non-disabled, neurotypical peers. Data were from an online survey of college students at 14 public institutions (N = 3073). There were few significant differences between students on the spectrum and students with other disabilities. Both groups of students reported significantly worse outcomes than neurotypical students on academic performance, social relationships and bullying, and physical and mental health. The findings suggest that some of the challenges students on the spectrum face in college result from the stigma and social rejection associated with disability rather than from the unique characteristics of autism.

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10. Nilsson Jobs E, Bolte S, Falck-Ytter T. Preschool Staff Spot Social Communication Difficulties, But Not Restricted and Repetitive Behaviors in Young Autistic Children. J Autism Dev Disord. 2019.

To fulfill the criteria for autism spectrum disorder (ASD), symptoms must be present across domains and contexts. We assessed preschool staff’s ratings of social communication and interaction (SCI) and restricted and repetitive behaviors (RRBs) in 3-year-old siblings of children with ASD, either diagnosed (n = 12) or not diagnosed (n = 36) with ASD, and typically developing siblings with no family history of ASD (n = 16). Ratings of SCI were more accurate than RRBs in differentiating the ASD group from the two other groups, and only the SCI ratings correlated with clinical assessment of social behavior. We conclude that while preschool staff ratings of SCI behaviors are adequate, ratings of RRBs should be treated with more caution.

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11. Pavone P, Corsello G, Marino S, Ruggieri M, Falsaperla R. Microcephaly/Trigonocephaly, Intellectual Disability, Autism Spectrum Disorder, and Atypical Dysmorphic Features in a Boy with Xp22.31 Duplication. Molecular syndromology. 2019 ; 9(5) : 253-8.

The Xp22.31 segment of the short arm of the human X chromosome is a region of high instability with frequent rearrangement. The duplication of this region has been found in healthy people as well as in individuals with varying degrees of neurological impairment. The incidence has been reported in a range of 0.4-0.44% of the patients with neurological impairment. Moreover, there is evidence that Xp22.31 duplication may cause a common phenotype including developmental delay, intellectual disability, feeding difficulty, autistic spectrum disorders, hypotonia, seizures, and talipes. We report on a patient with microcephaly and trigonocephaly, moderate intellectual disability, speech and language delay, and poor social interaction in addition to minor but atypical dysmorphic features. This report provides further insight into the pathogenicity of the Xp22.31 duplication by extending knowledge of its clinical features. This case, in association with those reported in the literature, indicates that the Xp22.31 duplication may contribute to cause pathological phenotypes with minor facial dysmorphisms, microcephaly, and intellectual disability as main features.

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12. Slaughter AM, Hein S, Hong JH, Mire SS, Grigorenko EL. Criminal Behavior and School Discipline in Juvenile Justice-Involved Youth with Autism. J Autism Dev Disord. 2019.

The objective was to delineate the prevalence of criminal behavior and school discipline in juvenile justice-involved youth (JJY) with autism. A sample of 143 JJY with autism was matched to comparison groups of JJY without a special education classification, JJY with learning disabilities, and JJY with other special educational needs (N = 572). Results showed that JJY with autism committed significantly fewer property crimes. With regard to school discipline, JJY with autism were least likely to receive policy violations, out-of-school suspensions, and in-school suspensions. Finally, regardless of special education classification, JJY who had a history of fighting in school were more likely to recidivate. Our results suggest that JJY with autism are not more likely to commit crimes compared to JJY without SEN.

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13. Stern SC, Barnes JL. Brief Report : Does Watching The Good Doctor Affect Knowledge of and Attitudes Toward Autism ?. J Autism Dev Disord. 2019.

Individuals’ knowledge and attitudes about autism spectrum disorder (ASD) work together to shape the stigma held about ASD. One way that this information is communicated to the public is through popular media ; however, little is known about the effectiveness of fictional depictions of ASD in educating and shaping attitudes about ASD. The purpose of this research was to investigate the impact media has on knowledge about and attitudes towards ASD, compared to that of a college lecture on the subject. Exposure to one episode of a fictional drama depicting ASD, compared to watching a lecture, resulted in more accurate knowledge, more positive characteristics associated with ASD, fewer negative characteristics associated with ASD, and a greater desire to learn more about ASD.

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14. Thompson L, Gillberg C, Landberg S, Kantzer AK, Miniscalco C, Barnevik Olsson M, Eriksson MA, Fernell E. Autism With and Without Regression : A Two-Year Prospective Longitudinal Study in Two Population-Derived Swedish Cohorts. J Autism Dev Disord. 2019.

Two community-based cohorts of children with autism spectrum disorder, examined using similar assessment protocols, were pooled (n = 301) and subdivided according to history of regression. Those with regression (n = 62), 20.5% of the combined cohort, were contrasted with those without regression (n = 241) at first assessment (age range 19-60 months) and at 2-year follow-up on a range of measures. The regression group was significantly more functionally impaired, with regard to intellectual function (p < .001), language development (p < .001), and to severity of autism (p < .01) at both T1 and T2. Only 14 (23.3%) had a clearly identified underlying etiology [24 (18.6%) in the non-regressive group]. There were no significant differences between those who had regressed ’from normal’ and those who had regressed ’from low’ functioning.

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15. Tye C, Runicles AK, Whitehouse AJO, Alvares GA. Characterizing the Interplay Between Autism Spectrum Disorder and Comorbid Medical Conditions : An Integrative Review. Frontiers in psychiatry. 2018 ; 9 : 751.

Co-occurring medical disorders and associated physiological abnormalities in individuals with autism spectrum disorder (ASD) may provide insight into causal pathways or underlying biological mechanisms. Here, we review medical conditions that have been repeatedly highlighted as sharing the strongest associations with ASD-epilepsy, sleep, as well as gastrointestinal and immune functioning. We describe within each condition their prevalence, associations with behavior, and evidence for successful treatment. We additionally discuss research aiming to uncover potential aetiological mechanisms. We then consider the potential interaction between each group of conditions and ASD and, based on the available evidence, propose a model that integrates these medical comorbidities in relation to potential shared aetiological mechanisms. Future research should aim to systematically examine the interactions between these physiological systems, rather than considering these in isolation, using robust and sensitive biomarkers across an individual’s development. A consideration of the overlap between medical conditions and ASD may aid in defining biological subtypes within ASD and in the development of specific targeted interventions.

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16. van Hoorn A, Carpenter T, Oak K, Laugharne R, Ring H, Shankar R. Neuromodulation of autism spectrum disorders using vagal nerve stimulation. Journal of clinical neuroscience : official journal of the Neurosurgical Society of Australasia. 2019.

Influential theories propose an important role for the autonomic nervous system in social behaviour and emotion regulation. Difficulties with these capabilities occur in autism spectrum disorders (ASD). Vagus nerve stimulation (VNS) is a neuromodulation technique that stimulates autonomic pathways by means of an electrode implanted around the left vagus nerve in the neck. It is a licenced treatment for epilepsy and depression. This study searches the literature for evidence of VNS effects on behaviour in ASD. A literature search was conducted by two independent reviewers using Embase, Medline, PsycInfo and Cochrane using relevant search terms following the principals of the PRISMA guidance. The search strategy utilised a combination of text words and thesaurus terms to retrieve records relating to autism/pervasive developmental disorder and vagus nerve stimulation. No limits were applied. Supplementary searches were carried out on trials registers, and using backwards and forwards citation searching. A predesigned inclusion and exclusion criteria was administered to the identified results. From the 242 results identified search strategy 11 were found to satisfy the full search criteria and used to discuss the hypothesis. Eight studies were case series and three case reports. There is some evidence that VNS, when performed for epilepsy, may improve behaviour in people with ASD. There are indications that this occurs independently of its effects on seizure frequency and mood, although more rigorous studies are required.

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17. Zamarbide M, Mossa A, Munoz-Llancao P, Wilkinson MK, Pond HL, Oaks AW, Manzini MC. Male-Specific cAMP Signaling in the Hippocampus Controls Spatial Memory Deficits in a Mouse Model of Autism and Intellectual Disability. Biol Psychiatry. 2018.

BACKGROUND : The prevalence of neurodevelopmental disorders is biased toward male individuals, with male-to-female ratios of 2:1 in intellectual disability and 4:1 in autism spectrum disorder. However, the molecular mechanisms of such bias remain unknown. While characterizing a mouse model for loss of the signaling scaffold coiled-coil and C2 domain-containing protein 1A (CC2D1A), which is mutated in intellectual disability and autism spectrum disorder, we identified biochemical and behavioral differences between male and female mice, and explored whether CC2D1A controls male-specific intracellular signaling. METHODS : CC2D1A is known to regulate phosphodiesterase 4D (PDE4D), which regulates cyclic adenosine monophosphate (cAMP) signaling. We tested for activation of PDE4D and downstream signaling molecules in the hippocampus of Cc2d1a-deficient mice. We then performed behavioral studies in female mice to analyze learning and memory, and then targeted PDE4D activation with a PDE4D inhibitor to define how changes in cAMP levels affect behavior in male and female mice. RESULTS : We found that in Cc2d1a-deficient male mice PDE4D is hyperactive, leading to a reduction in cAMP response element binding protein signaling, but this molecular deficit is not present in female mice. Cc2d1a-deficient male mice show a deficit in spatial memory, which is not present in Cc2d1a-deficient female mice. Restoring PDE4D activity using an inhibitor rescues cognitive deficits in male mice but has no effect on female mice. CONCLUSIONS : Our findings show that CC2D1A regulates cAMP intracellular signaling in a male-specific manner in the hippocampus, leading to male-specific cognitive deficits. We propose that male-specific signaling mechanisms are involved in establishing sex bias in neurodevelopmental disorders.

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