Pubmed du 23/06/20

mardi 23 juin 2020

1. Armstrong JL, Casey AB, Saraf TS, Mukherjee M, Booth RG, Canal CE. (S)-5-(2’-Fluorophenyl)-N,N-dimethyl-1,2,3,4-tetrahydronaphthalen-2-amine, a Serotonin Receptor Modulator, Possesses Anticonvulsant, Prosocial, and Anxiolytic-like Properties in an Fmr1 Knockout Mouse Model of Fragile X Syndrome and Autism Spectrum Disorder. ACS Pharmacol Transl Sci ;2020 (Jun 12) ;3(3):509-523.

Fragile X syndrome (FXS) is a neurodevelopmental disorder characterized by intellectual disabilities and a plethora of neuropsychiatric symptoms. FXS is the leading monogenic cause of autism spectrum disorder (ASD), which is defined clinically by repetitive and/or restrictive patterns of behavior and social communication deficits. Epilepsy and anxiety are also common in FXS and ASD. Serotonergic neurons directly innervate and modulate the activity of neurobiological circuits altered in both disorders, providing a rationale for investigating serotonin receptors (5-HTRs) as targets for FXS and ASD drug discovery. Previously we unveiled an orally active aminotetralin, (S)-5-(2’-fluorophenyl)-N,N-dimethyl-1,2,3,4-tetrahydronaphthalen-2-amine (FPT), that exhibits partial agonist activity at 5-HT(1A)Rs, 5-HT(2C)Rs, and 5-HT(7)Rs and that reduces repetitive behaviors and increases social approach behavior in wild-type mice. Here we report that in an Fmr1 knockout mouse model of FXS and ASD, FPT is prophylactic for audiogenic seizures. No FPT-treated mice displayed audiogenic seizures, compared to 73% of vehicle-treated mice. FPT also exhibits anxiolytic-like effects in several assays and increases social interactions in both Fmr1 knockout and wild-type mice. Furthermore, FPT increases c-Fos expression in the basolateral amygdala, which is a preclinical effect produced by anxiolytic medications. Receptor pharmacology assays show that FPT binds competitively and possesses rapid association and dissociation kinetics at 5-HT(1A)Rs and 5-HT(7)Rs, yet has slow association and rapid dissociation kinetics at 5-HT(2C)Rs. Finally, we reassessed and report FPT’s affinity and function at 5-HT(1A)Rs, 5-HT(2C)Rs, and 5-HT(7)Rs. Collectively, these observations provide mounting support for further development of FPT as a pharmacotherapy for common neuropsychiatric symptoms in FXS and ASD.

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2. Barnoux M, Alexander R, Bhaumik S, Devapriam J, Duggan C, Shepstone L, Staufenberg E, Turner D, Tyler N, Viding E, Langdon PE. The face validity of an initial sub-typology of people with autism spectrum disorders detained in psychiatric hospitals. Autism ;2020 (Jun 20):1362361320929457.

Autistic adults who have a history of committing crimes pose challenges for the criminal justice system in terms of disposal and treatment. For this reason, we investigated the validity of a proposed sub-typology of autistic adults detained in secure psychiatric hospitals. Initially, we ran a focus group with psychiatrists, clinical psychologists, healthcare workers, family members and autistic adults who had been detained in hospital to consider a sub-typology of autistic adults who may come into contact with secure psychiatric hospitals. We asked 15 psychiatrists and clinical psychologists to rate 10 clinical vignettes based on our sub-typology with three rounds ; revisions to the vignettes to improve clarity were made following each round. The findings indicated that these subtypes possess face validity and raters were able to classify all 10 clinical case vignettes into the sub-typology and percentage of agreement ranged from 96% to 100% for overall subtype classification. The findings suggested that the further validity of the sub-typology should be investigated within a larger study using a clinical sample. These subtypes may help inform treatment and care pathways within hospital.

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3. Baxter LC, Nespodzany A, Wood E, Stoeckmann M, Smith CJ, Braden BB. The influence of age and ASD on verbal fluency networks. Res Autism Spectr Disord ;2019 (Jul) ;63:52-62.

BACKGROUND : The integrity and connectivity of the frontal lobe, which subserves fluency, may be compromised by both ASD and aging. Alternate networks often integrate to help compensate for compromised functions during aging. We used network analyses to study how compensation may overcome age-related compromised in individuals with ASD. METHOD : Participants consisted of middle-aged (40-60 ; n=24) or young (18-25 ; n=18) right-handed males who have a diagnosis of ASD, and age- and IQ-matched control participants (n=20, 14, respectively). All performed tests of language and executive functioning and a fluency functional MRI task. We first used group individual component analysis (ICA) for each of the 4 groups to determine whether different networks were engaged. An SPM analysis was used to compare activity detected in the network nodes from the ICA analyses. RESULTS : The individuals with ASD performed more slowly on two cognitive tasks (Stroop word reading and Trailmaking Part A). The 4 groups engaged different networks during the fluency fMRI task despite equivalent performance. Comparisons of specific regions within these networks indicated younger individuals had greater engagement of the thalamus and supplementary speech area, while older adults engaged the superior temporal gyrus. Individuals with ASD did not disengage from the Default Mode Network during word generation. CONCLUSION : Interactions between diagnosis and aging were not found in this study of young and middle-aged men, but evidence for differential engagement of compensatory networks was observed.

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4. Braden BB, Riecken C. Thinning Faster ? Age-Related Cortical Thickness Differences in Adults with Autism Spectrum Disorder. Res Autism Spectr Disord ;2019 (Aug) ;64:31-38.

BACKGROUND : Over the course of the last 30 years, autism spectrum disorder (ASD) diagnoses have increased, thus identifying a large group of aging individuals with ASD. Currently, little is known regarding how aging will affect these individual’s neuroanatomy, compared to the neurotypical (NT) population. Because of the anatomical overlap of ASD-related cortical pathology and age-related cortical thinning, both following an anterior-to-posterior severity gradient, we hypothesize adults with ASD will show larger age-related cortical thinning than NT adults. METHODS : We analyzed cortical measurements using available data from the multi-site Autism Brain Imaging Data Exchange I (ABIDE I ; n=282) and our own cohort of middle-age to older adults with and without ASD (n=47) mostly available in ABIDE II (n=35). We compared correlations between cortical measures and age in right-handed adults with ASD (n=157) and similar NT adults (n = 172), controlling for IQ and site. Participants were 18 to 64 years of age (mean=29.8 years ; median=26 years). RESULTS : We found significant differences between diagnosis groups in the relationship between age and cortical thickness for areas of left frontal lobe (pars opercularis), temporal lobe (inferior gyrus, middle gyrus, banks of the superior temporal sulcus, and entorhinal cortex), parietal lobe (inferior gyrus), and lateral occipital lobe. For all areas, adults with ASD showed a greater negative correlation between age and cortical thickness than NT adults. CONCLUSION : As hypothesized, adults with ASD demonstrated exacerbated age-related cortical thinning, compared to NT adults. These differences were the largest and most extensive in the left temporal lobe. Future longitudinal work is warranted to investigate whether differences in brain age trajectories will translate to unique behavioral needs in older adults with ASD.

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5. Cappa C, Figoli M, Rossi P. Network of services facilitating and supporting job placement for people with autism spectrum disorders. The experience of the ASL Piacenza, Italy. Ann Ist Super Sanita ;2020 (Apr-Jun) ;56(2):241-246.

The Mental Health Department of Piacenza has recently activated a special program for persons diagnosed with autism spectrum disorders (ASD). The Program engages a number of stakeholders : the users, their families, social and psychiatric services as well as specific associations for autism. The program is aimed to grant a complete and individualized assistance to people with ASD and it is especially focused on the transition to adulthood. In this period, it is necessary to build the "life project" in order to improve functioning and quality of life of users. The elective areas of the individual plan have to deal on how to reach autonomy in daily living and related skills, obtaining and maintaining a job, as well as starting and reinforcing significant relationships. This paper is especially focused on job placement for people with ASD.

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6. Cauvet É, Van’t Westeinde A, Toro R, Kuja-Halkola R, Neufeld J, Mevel K, Bölte S. The social brain in female autism : a structural imaging study of twins. Soc Cogn Affect Neurosci ;2020 (Jun 23) ;15(4):423-436.

A female advantage in social cognition (SoC) might contribute to women’s underrepresentation in autism spectrum disorder (ASD). The latter could be underpinned by sex differences in social brain structure. This study investigated the relationship between structural social brain networks and SoC in females and males in relation to ASD and autistic traits in twins. We used a co-twin design in 77 twin pairs (39 female) aged 12.5 to 31.0 years. Twin pairs were discordant or concordant for ASD or autistic traits, discordant or concordant for other neurodevelopmental disorders or concordant for neurotypical development. They underwent structural magnetic resonance imaging and were assessed for SoC using the naturalistic Movie for the Assessment of Social Cognition. Autistic traits predicted reduced SoC capacities predominantly in male twins, despite a comparable extent of autistic traits in each sex, although the association between SoC and autistic traits did not differ significantly between the sexes. Consistently, within-pair associations between SoC and social brain structure revealed that lower SoC ability was associated with increased cortical thickness of several brain regions, particularly in males. Our findings confirm the notion that sex differences in SoC in association with ASD are underpinned by sex differences in brain structure.

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7. Di Sarro R, Varrucciu N, Di Santantonio A, Bonsi, II. The Integrated and Disability Health Program of AUSL Bologna. The Alstom experience for employment access in high functioning autism spectrum disorders. Ann Ist Super Sanita ;2020 (Apr-Jun) ;56(2):247-250.

The Integrated and Disability Health Program (IDHP) of Bologna deals with the assessment and treatment of both young and adults with high and low functioning autism spectrum disorder (ASD). The IDHP and Alstom Ferroviaria SPA started a highly innovative project for the employment of young adults diagnosed with high functioning ASD. The project consisted of a six months’ internship, for a total amount of 560 hours, and a renewal for another 6 months and involved a group of 5 young adults with high-functioning ASD, aged between 18 and 42 years, coming from Bologna or the suburbs. During the internship, a job coach trained in autism spectrum disorders was provided by IDHP. The intervention was based on Behavioral Skills Training (BST). As a result, the following advantages of BST model were found : very effective in small group ; learning occurred by observation and modelling, feedback was received by the trainer and other group members.

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8. Drahota A, Sadler R, Hippensteel C, Ingersoll B, Bishop L. Service deserts and service oases : Utilizing geographic information systems to evaluate service availability for individuals with autism spectrum disorder. Autism ;2020 (Jun 22):1362361320931265.

Autism spectrum disorder and co-occurring symptoms often require lifelong services. However, access to autism spectrum disorder services is hindered by a lack of available autism spectrum disorder providers. We utilized geographic information systems methods to map autism spectrum disorder provider locations in Michigan. We hypothesized that (1) fewer providers would be located in less versus more populated areas ; (2) neighborhoods with low versus high socioeconomic status would have fewer autism spectrum disorder providers ; and (3) an interaction would be found between population and socioeconomic status such that neighborhoods with low socioeconomic status and high population would have few available autism spectrum disorder providers. We compiled a list of autism spectrum disorder providers in Michigan, geocoded the location of providers, and used network analysis to assess autism spectrum disorder service availability in relation to population distribution, socioeconomic disadvantage, urbanicity, and immobility. Individuals in rural neighborhoods had fewer available autism spectrum disorder providers than individuals in suburban and urban neighborhoods. In addition, neighborhoods with greater socioeconomic status disadvantage had fewer autism spectrum disorder providers available. Finally, wealthier suburbs had good provider availability while few providers were available in poorer, urban neighborhoods. Knowing autism spectrum disorder providers’ availability, and neighborhoods that are particularly poorly serviced, presents the opportunity to utilize evidence-based dissemination and implementation strategies that promote increased autism spectrum disorder providers for underserved individuals.

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9. Fan C, Zhang H, Fu L, Li Y, Du Y, Qiu Z, Lu F. Rett mutations attenuate phase separation of MeCP2. Cell Discov ;2020 ;6:38.

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10. Ferraro M, Trimarco B, Morganti MC, Marino G, Pace P, Marino L. Life-long individual planning in children with developmental disability : the active role of parents in the Italian experience. Ann Ist Super Sanita ;2020 (Apr-Jun) ;56(2):171-179.

Many young adults with neurodevelopmental disorders experience poor transition outcomes in key areas, including employment, health care, and independent living. Innovative welfare models highlight the importance of involving the local community, and in particular the parents, as important stakeholders capable to generate services and affect local economy. As indicated by the World Health Organization, the availability of person-centered responses, also providing a health budget, appears to be the basis for taking into account person’s rights to self-determination. Health services and local stakeholders could play an important role to facilitate the implementation of support networks that are functional for an effective social inclusion. In order to improve current practices in transitioning to adulthood, it is of paramount importance to collect and learn from the living experience of people with neurodevelopmental disabilities and their families.

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11. Gabis LV, Attia OL, Roth-Hanania R, Foss-Feig J. Motor delay - An early and more common "red flag" in girls rather than boys with autism spectrum disorder. Res Dev Disabil ;2020 (Jun 19) ;104:103702.

BACKGROUND : Autism and intellectual disability may coincide and be preceded by global developmental delay or by motor delay. HYPOTHESIS : Motor delay in the context of global developmental delay is an initial "red flag" for ASD, with added risk in girls. OBJECTIVE : To assess early developmental milestones in girls with ASD as compared to diagnosed boys, considering prematurity risk. METHOD : Developmental milestones in a cohort of 467 children with ASD - diagnosed at mean age of 3.4 years (SD = 2.2) - were analyzed according to gender and prematurity risk. RESULTS : 111 girls (24 %), 356 boys (76 %), presented with motor milestones acquisition grossly within the normal range. However, there was a shift towards acquisition of walking being at the later end of the norm range, with this shift being more prominent in girls. 60 % of girls and 47 % of boys with ASD had motor delay and 49 % of girls and 36 % of boys had global developmental delay. The extent of the delays was greater in the prematurity subgroup. CONCLUSION : Global delay of early milestones occurred in half of children with ASD and in 60 % of girls with ASD. Delayed acquisition of independent walking is relatively more common in girls subsequently diagnosed with ASD.

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12. Hwang IT, Kramer JM, Cohn ES, Barnes LL. Asian Immigrant Parents’ Role Enactment While Accessing and Using Services for Their Child With Developmental Disabilities in the United States : A Meta-Synthesis Study. Qual Health Res ;2020 (Jun 20):1049732320926138.

We conducted a meta-synthesis to explore how Asian immigrant parents in the United States enact their perceived parental role while using health and educational services for their child with developmental disabilities. We identified 11 qualitative studies for analysis, and examined these studies using a constant comparative approach and thematic analysis informed by role theory and acculturation theory. Based on our analysis, five themes related to parents’ role enactment emerged : (a) parents perceive a multifaceted parental role ; (b) parents’ individual factors influence their role enactment ; (c) system factors influence parents’ role enactment ; (d) parents use coping strategies to address role dissatisfaction ; and (e) parental role enactment is a continuously evolving process influenced by acculturation, which spirals them toward their ultimate goal of helping their child thrive. Findings can inform practitioners’ and researchers’ understanding of how to create a culturally safe environment to support Asian immigrant parents in realizing their parental role.

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13. Jenkinson R, Milne E, Thompson A. The relationship between intolerance of uncertainty and anxiety in autism : A systematic literature review and meta-analysis. Autism ;2020 (Jun 22):1362361320932437.

People who find it especially hard to cope with the unexpected or unknown are said to have an intolerance of uncertainty. Autistic individuals often report a preference for certainty and experience levels of anxiety that can interfere with their daily life. Understanding more about the link between the intolerance of uncertainty and anxiety in autistic people might lead to better treatments for anxiety being developed. Therefore, this work aimed to review previous research in order to explore this link. Twelve studies were found and their results were compared and contrasted. The autistic people who participated in the studies completed questionnaires that suggested a large number of them experienced very high levels of anxiety and intolerance of uncertainty. Of 10 studies that used relevant statistics, nine found a statistically significant link between anxiety and the intolerance of uncertainty. In general, the strength of the link was about the same as previous research found in people who did not have a diagnosis of autism. This might mean that interventions that aim to help people who are intolerant of uncertainty could be effective for autistic individuals.

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14. Kilmer M. Primary care of children with autism spectrum disorder : Pilot program results. Nurse Pract ;2020 (Jul) ;45(7):48-55.

Early intervention is vital for improved health outcomes in children with autism spectrum disorder (ASD). Innovations that support primary care providers’ management of ASD are needed. The conclusion of this series outlines a research pilot program testing the usability of an author-developed clinical practice guideline for the initial management of pediatric patients at risk for ASD.

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15. Laghi F, Trimarco B. Individual planning starts at school. Tools and practices promoting autonomy and supporting transition to work for adolescents with autism spectrum disorder. Ann Ist Super Sanita ;2020 (Apr-Jun) ;56(2):222-229.

There is an increasing need for effective services and strategies to favor the transition from school to post-school/working experience for individuals with disabilities and specifically with autism spectrum disorder (ASD). Post-school options are still limited, and most adults with ASD struggle in finding adequate and stable job opportunities. This work analyzes the increasing number of laws issued in Italy in the last decades in order to improve social and working inclusion. The central role of the individual educational planning (IEP) as part of the broader individual project is discussed. Also the potential of pathways for transversal skills and orientation for future employment outcomes is taken into consideration. Good practices promoting autonomy and supporting transition to work starting from school years are reviewed. The international literature shows different models and tools, which could be applied to the Italian school. The COMPASS consultancy model could favor the achievement of individualized transition IEP goals. Peer mediated intervention could improve social skills, a core weakness in ASD, though a central element for success in the workplace. Another key element is the parental involvement in the construction of the future of their children with ASD.

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16. Schmidt KC, Loutaev I, Quezado Z, Sheeler C, Smith CB. Regional rates of brain protein synthesis are unaltered in dexmedetomidine sedated young men with fragile X syndrome : A L-[1-(11)C]leucine PET study. Neurobiol Dis ;2020 (Jun 19):104978.

Fragile X syndrome (FXS) is the most common inherited cause of intellectual disability. Fragile X mental retardation protein (FMRP), a putative translation suppressor, is absent or significantly reduced in FXS. One prevailing hypothesis is that rates of protein synthesis are increased by the absence of this regulatory protein. In accord with this hypothesis, we have previously reported increased rates of cerebral protein synthesis (rCPS) in the Fmr1 knockout mouse model of FXS and others have reported similar effects in hippocampal slices. To address the hypothesis in human subjects, we applied the L[1-(11)C]leucine PET method to measure rCPS in adults with FXS and healthy controls. All subjects were males between the ages of 18 and 24 years and free of psychotropic medication. As most fragile X participants were not able to undergo the PET study awake, we used dexmedetomidine for sedation during the imaging studies. We found no differences between rCPS measured during dexmedetomidine-sedation and the awake state in ten healthy controls. In the comparison of rCPS in dexmedetomidine-sedated fragile X participants (n = 9) and healthy controls (n = 14) we found no statistically significant differences. Our results from in vivo measurements in human brain do not support the hypothesis that rCPS are elevated due to the absence of FMRP. This hypothesis is based on findings in animal models and in vitro measurements in human peripheral cells. The absence of a translation suppressor may produce a more complex response in pathways regulating translation than previously thought. We may need to revise our working hypotheses regarding FXS and our thinking about potential therapeutics.

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17. Taylor JL, DaWalt LS. Working toward a better understanding of the life experiences of women on the autism spectrum. Autism ;2020 (Jul) ;24(5):1027-1030.

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18. Tian LH, Wiggins LD, Schieve LA, Yeargin-Allsopp M, Dietz P, Aylsworth AS, Elias ER, Hoover-Fong JE, Meeks NJL, Souders MC, Tsai AC, Zackai EH, Alexander AA, Dowling NF, Shapira SK. Mapping the Relationship between Dysmorphology and Cognitive, Behavioral, and Developmental Outcomes in Children with Autism Spectrum Disorder. Autism Res ;2020 (Jun 22)

Previous studies investigating the association between dysmorphology and cognitive, behavioral, and developmental outcomes among individuals with autism spectrum disorder (ASD) have been limited by the binary classification of dysmorphology and lack of comparison groups. We assessed the association using a continuous measure of dysmorphology severity (DS) in preschool children aged 2-5 years (322 with ASD and intellectual disability [ID], 188 with ASD without ID, and 371 without ASD from the general population [POP]). In bivariate analyses, an inverse association between DS and expressive language, receptive language, fine motor, and visual reception skills was observed in children with ASD and ID. An inverse association of DS with fine motor and visual reception skills, but not expressive language and receptive language, was found in children with ASD without ID. No associations were observed in POP children. These results persisted after exclusion of children with known genetic syndromes or major morphologic anomalies. Quantile regression models showed that the inverse relationships remained significant after adjustment for sex, race/ethnicity, maternal education, family income, study site, and preterm birth. DS was not associated with autistic traits or autism symptom severity, behaviors, or regression among children with ASD with or without ID. Thus, DS was associated with a global impairment of cognitive functioning in children with ASD and ID, but only with fine motor and visual reception deficits in children with ASD without ID. A better understanding is needed for mechanisms that explain the association between DS and cognitive impairment in children with different disorders. LAY SUMMARY : We examined whether having more dysmorphic features (DFs) was related to developmental problems among children with autism spectrum disorder (ASD) with or without intellectual disability (ID), and children without ASD from the general population (POP). Children with ASD and ID had more language, movement, and learning issues as the number of DFs increased. Children with ASD without ID had more movement and learning issues as the number of DFs increased. These relationships were not observed in the POP group. Implications are discussed.

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19. Visser L, Linkersdörfer J, Rothe J, Görgen R, Hasselhorn M, Schulte-Körne G. Corrigendum to ’The role of ADHD symptoms in the relationship between academic achievement and psychopathological symptoms’ Research in Developmental Disabilities 97 (2020) 103552. Res Dev Disabil ;2020 (Jun 18):103691.

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