Pubmed du 20/09/19

vendredi 20 septembre 2019

1. de Castro Paiva GC, de Souza Costa D, Malloy-Diniz LF, Marques de Miranda D, Jardim de Paula J. Temporal Reward Discounting in Children with Attention Deficit/Hyperactivity Disorder (ADHD), and Children with Autism Spectrum Disorder (ASD) : A Systematic Review. Dev Neuropsychol ;2019 (Sep 20):1-13.

Children with ADHD and ASD may present differences in the affective-motivational processes. We systematically review the literature regarding temporal discounting in children up to 12 years with ADHD and ASD. Six articles were included, five studies with ADHD children (n = 231), one with ASD children (n = 21), all including typically developing children as controls (n = 210). Five studies (four with ADHD and one with ASD) found greater temporal reward discounting for clinical groups. Occurrence of ADHD appears to rush even more the decision-making process at this stage of development, but there is still a lack in the literature, especially evaluating individuals with ASD.

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2. Franz L, Dawson G. Implementing early intervention for autism spectrum disorder : a global perspective. Pediatr Med ;2019 (Aug) ;2

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3. Hawks Z, Constantino JN, Weichselbaum C, Marrus N. Accelerating Motor Skill Acquisition for Bicycle Riding in Children with ASD : A Pilot Study. J Autism Dev Disord ;2019 (Sep 18)

Motor impairment is common in autism spectrum disorder (ASD) and, as such, a potential target for interventions to improve adaptive functioning. This study investigated motor skill acquisition in children with ASD (n = 15, 12 males ; ages 7-16 years) during iCan Bike Camp, a 1-week, community-based intervention (5 x 75-min sessions) to teach independent bicycle riding. After completing the camp’s task-oriented, individualized training program, all participants demonstrated motor skill acquisition on the bicycle, and nine participants rode independently at least 70 feet. Exploratory analyses showed that motor coordination and social communication correlated with rates of skill acquisition. These findings indicate the feasibility and efficacy of brief, community-based motor interventions to teach bicycle riding-an important developmental skill supporting adaptive functioning-to children with ASD.

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4. Hettiarachchi D, Neththikumara NF, Pathirana B, Dissanayake VHW. Variant Profile of MECP2 Gene in Sri Lankan Patients with Rett Syndrome. J Autism Dev Disord ;2019 (Sep 18)

Rett syndrome (RTT) is a rare monogenic disorder affecting 1 in 10,000 live female births causing severe neurodegenerative symptoms. We analyzed the molecular genetic variants in the gene encoding the methyl-CpG binding protein 2 (MECP2) of 16 girls with RTT. Their mutation profile was as follows ; Already described variants : p.R168X in 25% (n = 4), p.T158M in 25% (n = 4), p.R255X in 12.5% (n = 2), p.R133C in 12.5% (n = 2), p.R294X in 6.25% (n = 1), p.K177X in 6.25% (n = 1). Novel variants : a large deletion (c.868_1188del321) in 6.25% (n = 1) and a p.X499L in 6.25% (n = 1). We also looked at the genotype to phenotype correlation of these variants. Most of the mutations were C>T in CpG hot spot as seen in other populations.

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5. Katz L, Nayar K, Garagozzo A, Schieszler-Ockrassa C, Paxton J. Changes in Autism Nosology : The Social Impact of the Removal of Asperger’s Disorder from the Diagnostic and Statistical Manual for Mental Disorders, Fifth Edition (DSM-5). J Autism Dev Disord ;2019 (Sep 18)

This study examined the perception of an ASD label compared to Asperger’s syndrome or no diagnosis. Seventy-one undergraduates read an adapted vignette (Ohan et al. J Autism Dev Disord 45:3384-3389, 2015) about an undergraduate with ASD, Asperger’s Syndrome, or No Diagnosis. Participants also completed questionnaires. More positive ratings emerged for the Asperger’s and ASD labels than No Diagnosis in low contact scenarios, particularly when involving greater social versus professional interaction. In contrast, more positive ratings emerged for the Asperger’s compared to the ASD and No Diagnosis on high contact items. Ratings between low and high contact items differed only for ASD. Results demonstrate the impact of diagnostic labels across social contexts and support the need for education surrounding changes in nosology.

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6. Latinus M, Clery H, Andersson F, Bonnet-Brilhault F, Fonlupt P, Gomot M. Inflexibility in Autism Spectrum Disorder : Need for certainty and atypical emotion processing share the blame. Brain Cogn ;2019 (Sep 16) ;136:103599.

Although ASD (Autism Spectrum Disorder) diagnosis requires the co-occurrence of socio-emotional deficits and inflexible behaviors, the interaction between these two domains remains unexplored. We used an emotional Wisconsin Card Sorting Test adapted to fMRI to explore this question. ASD and control participants matched a central card (a face) with one of four surrounding cards according to one of three rules : frame color, facial identity or expression. Feedback informed participants on whether to change or maintain the current sorting rule. For each rule, we modeled feedback onsets to change, switch (confirming the newly found rule) and maintenance events. "Bias error", which measures participants’ willingness to switch, was larger in ASD participants for the emotional sorting rule. Brain activity to change events showed no group differences. In response to switch events significantly larger activity was observed for ASD participants in bilateral Inferior Parietal Sulci. Inflexibility in ASD appears characterized by the unwillingness to switch toward processing socio-emotional information, rather than a major disruption in cognitive flexibility. However, a larger activity to switch events in ASD highlights the need for a higher level of certainty before setting into a stable processing stage, which may be particularly detrimental in the highly changeable socio-emotional environment.

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7. Railey KS, Bowers-Campbell J, Love AMA, Campbell JM. An Exploration of Law Enforcement Officers’ Training Needs and Interactions with Individuals with Autism Spectrum Disorder. J Autism Dev Disord ;2019 (Sep 18)

Semi-structured interviews were employed to (a) characterize LEOs’ knowledge of ASD, (b) understand interactions between LEOs and individuals with ASD, and (c) identify training needs to prepare LEOs for interactions with the ASD community. Researchers utilized a constructivist grounded theory approach to analyze data from 17 participants : (a) six LEOs, (b) six adults with ASD, and (c) five caregivers. Common themes included the (a) potential for misinterpretations of behavior of individuals with ASD ; (b) helpfulness of an identification system/symbol for ASD ; (c) need for interactive, mandatory training unique to LEOs’ needs ; and, (d) importance of building community connections between LEOs and individuals with ASD. Findings are discussed within the context of previous research related to law enforcement and ASD.

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8. Shindler AE, Hill-Yardin EL, Petrovski S, Bishop N, Franks AE. Towards Identifying Genetic Biomarkers for Gastrointestinal Dysfunction in Autism. J Autism Dev Disord ;2019 (Sep 18)

This study investigated genetic biomarkers for gastrointestinal dysfunction symptoms in order to provide further information on the genetic risk for GI dysfunction associated with autism. The single nucleotide polymorphisms of sixty participants with autism and/or gastrointestinal dysfunction were analyzed. The autism group had a moderate statistical significance for the Prolactin (PRL) (OR 6.35, p value 0.069) and Interleukin 10 (IL-10) (OR 0.25, p value 0.087) SNPs. The GI dysfunction group had a strong statistical significance for the Cluster of Differentiation 38 (CD38) (OR 6.88, p value 0.005) and oxytocin receptor (OXTR) (OR 0.27, p value 0.036) SNPs. The potential use of PRL, IL-10, CD38, and OXTR SNP expression as biomarkers for GI dysfunction in autism warrants further research.

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9. Sragovich S, Ziv Y, Vaisvaser S, Shomron N, Hendler T, Gozes I. The autism-mutated ADNP plays a key role in stress response. Transl Psychiatry ;2019 (Sep 18) ;9(1):235.

Activity-dependent neuroprotective protein (ADNP), discovered and first characterized in our laboratory (IG), is vital for mammalian brain formation and presents one of the leading genes mutated de novo causing an autistic syndrome, namely the ADNP syndrome. Furthermore, a unique mouse model of Adnp-haploinsufficiency was developed in the laboratory (IG), with mice exhibiting cognitive and social deficiencies. ADNP is regulated by vasoactive intestinal peptide (VIP), and pituitary adenylate cyclase-activating peptide (PACAP). In this respect, PACAP was independently identified as a sexual divergent master regulator of the stress response. Here, we sought to determine the impact of the Adnp genotype and the efficacy of PACAP pre-treatment when subjecting Adnp(+/-) mice to stressful conditions. Significant sex differences were observed with Adnp(+/-) males being more susceptible to stress in the object and social recognition tests, and the females more susceptible in the open field and elevated plus maze tests. Splenic Adnp expression and plasma cortisol levels in mice were correlated with cognition (male mice) and anxiety-related behavior. These findings were further translated to humans, with observed correlations between ADNP expression and stress/cortisol content in a young men cohort. Altogether, our current results may establish ADNP as a marker of stress response.

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