Pubmed du 17/12/19

mardi 17 décembre 2019

1. Andrews DS, Lee JK, Solomon M, Rogers SJ, Amaral DG, Nordahl CW. A diffusion-weighted imaging tract-based spatial statistics study of autism spectrum disorder in preschool-aged children. J Neurodev Disord ;2019 (Dec 16) ;11(1):32.

BACKGROUND : The core symptoms of autism spectrum disorder (ASD) are widely theorized to result from altered brain connectivity. Diffusion-weighted magnetic resonance imaging (DWI) has been a versatile method for investigating underlying microstructural properties of white matter (WM) in ASD. Despite phenotypic and etiological heterogeneity, DWI studies in majority male samples of older children, adolescents, and adults with ASD have largely reported findings of decreased fractional anisotropy (FA) across several commissural, projection, and association fiber tracts. However, studies in preschool-aged children (i.e., < 30-40 months) suggest individuals with ASD have increased measures of WM FA earlier in development. METHODS : We analyzed 127 individuals with ASD (85male symbol, 42female symbol) and 54 typically developing (TD) controls (42male symbol, 26female symbol), aged 25.1-49.6 months. Voxel-wise effects of ASD diagnosis, sex, age, and their interaction on DWI measures of FA, mean diffusivity (MD), radial diffusivity (RD), and axial diffusivity (AD) were investigated using tract-based spatial statistics (TBSS) while controlling mean absolute and relative motion. RESULTS : Compared to TD controls, males and females with ASD had significantly increased measures of FA in eight clusters (threshold-free cluster enhancement p < 0.05) that incorporated several WM tracts including regions of the genu, body, and splenium of the corpus callosum, inferior frontal-occipital fasciculi, inferior and superior longitudinal fasciculi, middle and superior cerebellar peduncles, and corticospinal tract. A diagnosis by sex interaction was observed in measures of AD across six significant clusters incorporating areas of the body, genu, and splenium of the corpus collosum. In these tracts, females with ASD showed increased AD compared to TD females, while males with ASD showed decreased AD compared to TD males. CONCLUSIONS : The current findings support growing evidence that preschool-aged children with ASD have atypical measures of WM microstructure that appear to differ in directionality from alterations observed in older individuals with the condition. To our knowledge, this study represents the largest sample of preschool-aged females with ASD to be evaluated using DWI. Microstructural differences associated with ASD largely overlapped between sexes. However, differential relationships of AD measures indicate that sex likely modulates ASD neuroanatomical phenotypes. Further longitudinal study is needed to confirm and quantify the developmental relationship of WM structure in ASD.

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2. Bailey KM, Frost KM, Casagrande K, Ingersoll B. The relationship between social experience and subjective well-being in autistic college students : A mixed methods study. Autism ;2019 (Dec 17):1362361319892457.

This mixed methods study examined the relationship between the college social experience and subjective well-being in autistic students in the Midwestern United States. An online survey focused on social connectedness, social participation, social support, and subjective well-being. A semi-structured interview discussed transition, supports received, and social participation. Correlations and a hierarchical regression were used to examine the relationship between social experience variables and subjective well-being from the survey. Inductive thematic analysis was used to identify interview themes. Theme counts for students who reported higher and lower subjective well-being were examined. Social connectedness, time spent with friends, and perceived social support were positively correlated with students’ subjective well-being, with social connectedness explaining unique variance. Common themes included challenges navigating a new social environment and the importance of family, friends, and professors in providing social support. Students with lower subjective well-being more frequently discussed struggles to make social connections and the trade-off between socializing and succeeding academically, whereas students with higher subjective well-being more frequently described college as providing opportunities to develop meaningful social connections. This study adds new perspectives on the college experience for autistic students and highlights the important role that social connections and support play in their subjective well-being.

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3. Cook ML, Zhang Y, Constantino JN. On the Continuity Between Autistic and Schizoid Personality Disorder Trait Burden : A Prospective Study in Adolescence. J Nerv Ment Dis ;2019 (Dec 17)

Although widely conceived as distinct conditions, higher-functioning autism spectrum disorder (ASD) and schizoid personality disorder (schizoid PD) share similar clinical symptomatology. This study explored the relationship between the two disorders by collecting extensively validated measures of autistic trait burden (Social Responsive Scale, Second Edition) and schizoid PD affectation (Diagnostic Interview for Genetic Studies) from clinically ascertained verbal males with and without autism ages 12 to 25 years (N = 72) via parent, teacher, and self-report. Although only a small minority of adolescents with ASD met full diagnostic criteria for schizoid PD, participants with ASD endorsed a continuous distribution of schizoid PD traits that reflected a pronounced pathological shift in comparison with those in the control group, with one half of ASD males experiencing three or more Diagnostic and Statistical Manual of Mental Disorders, 4th Edition schizoid PD criterion items "often" or "almost always." Results suggest significant amplification of schizoid PD trait burden in adolescents with ASD. ASD-specific interventions should be considered for patients with schizoid PD with premorbid histories of ASD.

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4. Donkers FC, Carlson M, Schipul SE, Belger A, Baranek GT. Auditory event-related potentials and associations with sensory patterns in children with autism spectrum disorder, developmental delay, and typical development. Autism ;2019 (Dec 17):1362361319893196.

Atypical sensory response patterns are common in children with autism and developmental delay. Expanding on previous work, this observational electroencephalogram study assessed auditory event-related potentials and their associations with clinically evaluated sensory response patterns in children with autism spectrum disorder (n = 28), developmental delay (n = 17), and typical development (n = 39). Attention-orienting P3a responses were attenuated in autism spectrum disorder relative to both developmental delay and typical development, but early sensory N2 responses were attenuated in both autism spectrum disorder and developmental delay relative to typical development. Attenuated event-related potentials involving N2 or P3a components, or a P1 x N2 interaction, were related to more severe hyporesponsive or sensory-seeking response patterns across children with autism spectrum disorder and developmental delay. Thus, although attentional disruptions may be unique to autism spectrum disorder, sensory disruptions appear across developmental delay and are associated with atypical sensory behaviors.

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5. Duh A, Till A, Banfai Z, Hegyi M, Melegh B, Hadzsiev K. [MECP2 mutation in a male patient identified in the background of severe epileptic encephalopathy]. Orv Hetil ;2019 (Dec) ;160(51):2036-2039.

Here we report on a severe, neonatal onset epileptic encephalopathy manifested in a currently 2-year-old boy with no family history of neurological disease. Extensive clinical investigations were unable to clarify the etiology of the infant’s condition characterized by drug-resistant seizures and markedly delayed developmental skills. As in this class of disorders a genetic cause might be identified, a next-generation sequencing (NGS) epilepsy panel examination consisting of 128 genes was initiated for a correct diagnosis. The genetic analysis identified a previously undescribed hemizygous missense mutation in the MECP2 gene. Similarly to other, X-linked dominant disorders, Rett syndrome was originally hypothesized to be lethal in males. This theory, however, has been revised. The aim of this report is to review the wide spectrum of neurodevelopmental diseases observed in male patients carrying mutations in the MECP2 gene classically associated with Rett syndrome in girls. To the author’s knowledge, this is the first report in Hungary to document MECP2 mutation of a male patient diagnosed by molecular genetic testing. Orv Hetil. 2019 ; 160(51) : 2036-2039.

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6. Fernandes D, Santos SD, Coutinho E, Whitt JL, Beltrao N, Rondao T, Leite MI, Buckley C, Lee HK, Carvalho AL. Disrupted AMPA Receptor Function upon Genetic- or Antibody-Mediated Loss of Autism-Associated CASPR2. Cereb Cortex ;2019 (Dec 17) ;29(12):4919-4931.

Neuropsychiatric disorders share susceptibility genes, suggesting a common origin. One such gene is CNTNAP2 encoding contactin-associated protein 2 (CASPR2), which harbours mutations associated to autism, schizophrenia, and intellectual disability. Antibodies targeting CASPR2 have also been recently described in patients with several neurological disorders, such as neuromyotonia, Morvan’s syndrome, and limbic encephalitis. Despite the clear implication of CNTNAP2 and CASPR2 in neuropsychiatric disorders, the pathogenic mechanisms associated with alterations in CASPR2 function are unknown. Here, we show that Caspr2 is expressed in excitatory synapses in the cortex, and that silencing its expression in vitro or in vivo decreases the synaptic expression of alpha-amino-3-hydroxy-5-methylisoxazole-4-propionic acid (AMPA) receptors and the amplitude of AMPA receptor-mediated currents. Furthermore, Caspr2 loss of function blocks synaptic scaling in vitro and experience-dependent homoeostatic synaptic plasticity in the visual cortex. Patient CASPR2 antibodies decrease the dendritic levels of Caspr2 and synaptic AMPA receptor trafficking, and perturb excitatory transmission in the visual cortex. These results suggest that mutations in CNTNAP2 may contribute to alterations in AMPA receptor function and homoeostatic plasticity, and indicate that antibodies from anti-CASPR2 encephalitis patients affect cortical excitatory transmission.

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7. Foley KR, den Houting J. Occupational therapists use of autism terminology. Aust Occup Ther J ;2019 (Dec 15)

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8. Garcia JM, Leahy N, Rivera P, Renziehausen J, Samuels J, Fukuda DH, Stout JR. Brief Report : Preliminary Efficacy of a Judo Program to Promote Participation in Physical Activity in Youth with Autism Spectrum Disorder. J Autism Dev Disord ;2019 (Dec 17)

To examine the preliminary efficacy of an 8-week judo program to promote moderate-to-vigorous physical activity (MVPA) and reduce sedentary behavior (SB) in youth with Autism Spectrum Disorder (ASD). Fourteen children diagnosed with ASD participated in a weekly judo program over a period of 8 weeks. Participants wore an Actigraph accelerometer to measure activity levels at baseline and post-judo. All 14 children attended at least 75% of the 8 judo classes. Percentage of time spent in daily MVPA (8% vs 4%, p = .05) increased following the intervention. A high rate of participation and an increase in time spent in MVPA was observed following the 8-week program. Further research to examine causal mechanisms is warranted.

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9. Gollwitzer A, Martel C, McPartland JC, Bargh JA. Reply to Taylor et al. : Acknowledging the multidimensionality of autism when predicting social psychological skill. Proc Natl Acad Sci U S A ;2019 (Dec 17) ;116(51):25380-25381.

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10. Hazlett HC, Gallo V. White matter and neurodevelopmental disorders : honoring Jean De Vellis through the work of the NICHD-funded intellectual and developmental disabilities research centers. J Neurodev Disord ;2019 (Dec 16) ;11(1):38.

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11. Kaltenegger HC, Philips B, Wennberg P. Autistic traits in mentalization-based treatment for concurrent borderline personality disorder and substance use disorder : Secondary analyses of a randomized controlled feasibility study. Scand J Psychol ;2019 (Dec 15)

Autism is suggested to be a dimensional construct and often represents a comorbid state. However, research on the clinical implications of the presence of autistic traits is scarce. This study aimed to investigate the impact of subclinical autistic traits in mentalization-based treatment (MBT) for concurrent borderline personality disorder (BPD) and substance use disorder (SUD). Based on the data of a randomized controlled feasibility study by Philips, Wennberg, Konradsson, and Franck (2018), secondary analyses were conducted. It was tested, if patients’ (N = 46) levels of autistic traits were associated with treatment outcome measured in the course of and after treatment using interviews and self-report measures. Participants’ autistic traits were not associated with the change in the severity of BPD throughout and at the end of the treatment. However, results showed associations between autistic traits and the change in patients’ consumption of alcohol in the course of MBT. Furthermore, there was an association between autistic traits and the change in mentalizing capacity at the end of MBT, indicating that elevated autistic traits were associated with an improvement in mentalizing capacity. Autistic traits on a subclinical level do not appear to be a complicating factor in MBT for concurrent BPD and SUD. On the contrary, in terms of mentalizing capacity autistic traits might be associated with a larger potential for improvement or facilitate treatment outcome. Further research is needed to explore the role of higher autistic traits in treatment of this special patient group.

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12. Lombardo MV, Eyler L, Moore A, Datko M, Carter Barnes C, Cha D, Courchesne E, Pierce K. Default mode-visual network hypoconnectivity in an autism subtype with pronounced social visual engagement difficulties. Elife ;2019 (Dec 17) ;8

Social visual engagement difficulties are hallmark early signs of autism (ASD) and are easily quantified using eye tracking methods. However, it is unclear how these difficulties are linked to atypical early functional brain organization in ASD. With resting state fMRI data in a large sample of ASD toddlers and other non-ASD comparison groups, we find ASD-related functional hypoconnnectivity between ’social brain’ circuitry such as the default mode network (DMN) and visual and attention networks. An eye tracking-identified ASD subtype with pronounced early social visual engagement difficulties (GeoPref ASD) is characterized by marked DMN-occipito-temporal cortex (OTC) hypoconnectivity. Increased DMN-OTC hypoconnectivity is also related to increased severity of social-communication difficulties, but only in GeoPref ASD. Early and pronounced social-visual circuit hypoconnectivity is a key underlying neurobiological feature describing GeoPref ASD and may be critical for future social-communicative development and represent new treatment targets for early intervention in these individuals.

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13. Moon SJ, Hwang J, Hill HS, Kervin R, Birtwell KB, Torous J, McDougle CJ, Kim JW. Mobile device applications and treatment of autism spectrum disorder : a systematic review and meta-analysis of effectiveness. Arch Dis Child ;2019 (Dec 17)

OBJECTIVE : The current study was performed to assess the evidence for effects of therapeutic intervention with mobile device applications (apps) for individuals with autism spectrum disorder (ASD). DESIGN : The main methodology of the current study was systematic review with meta-analysis. SETTING : Only randomised controlled trials (RCTs) for mobile device apps for individuals with ASD were considered for review in the current study. PATIENTS : The target population was individuals clinically diagnosed with ASD. INTERVENTIONS : Applications that are operable on a smart (mobile) device and interactive with users. MAIN OUTCOME MEASURES : The main outcomes were based on standardised mean differences in pretrial and post-trial scales in each control and intervention group. RESULTS : Out of a total of 1100 studies (after duplicate removal), 7 RCTs were selected for final analysis. Of the seven studies, two RCTs were further analysed for effects based on the visual and fine motor subscales of the Mullen Scales of Early Learning, which favoured the intervention groups (standardised mean difference (SMD)=0.41, 95% CI 0.03 to 0.80 ; SMD=0.41, 95% CI 0.03 to 0.80), without either having any heterogeneity (p>0.1) or publication bias. CONCLUSIONS : Although it is still early to draw a conclusion, available studies are showing promise for use of mobile device apps for treatment of individuals with ASD. More well-designed and large-scale studies focused on improving behavioural symptoms of ASD are warranted. PROSPERO REGISTRATION NUMBER : CRD42019128362.

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14. Munnich A, Demily C, Frugere L, Duwime C, Malan V, Barcia G, Vidal C, Throo E, Besmond C, Hubert L, Roland-Manuel G, Malen JP, Ferreri M, Hanein S, Boddaert N, Assouline M. [Twenty years of on-site clinical genetics consultations for people with ASD]. Med Sci (Paris) ;2019 (Nov) ;35(11):843-851.

Despite advances in neurogenetics of autism spectrum disorders (ASD), many patients fail to be systematically investigated, owing to preconceived ideas, limited access to genetics facilities and inadequacy of consultations to children with behavioural problems. To improve access to services, we reversed the paradigm and delivered on-site genetics consultations to ASD children of Greater Paris day care hospitals and specialized institutions. Since 1998, an ambulatory medical genetics team has been in operation, offering on-site consultations and services to patients and relatives in their usual environment. Because the mobile medical genetics unit operates under the umbrella of a university hospital, service laboratories were shared, including molecular cytogenetics and next generation sequencing (NGS). For the past 20 years, 502 patients from 26 institutions benefited from on-site consultations and genetics services in their usual environment. Less than 1 % of parents declined the offer. Previously undiagnosed genetics conditions were recognized in 71 ASD children, including pathogenic CNV variants (34/388 : 8.8 ; de novo : 19, inherited : 4), Fragile X (4/312 : 1.3 %) and deleterious variants in disease causing genes (33/141 ; 23.4 % : de novo : 23 ; inherited : 10, including 5 X-linked and 5 compound heterozygote mutations). Brain MRI were possible in 347 patients and 42 % were considered abnormal (146/347). All diagnosed patients presented atypical/syndromic ASD with moderate to severe intellectual disability. Thanks to such flexible organisation, a considerable number of missed consultations were tracked and families first benefited from medical genetics services. Owing to constraints imposed by behavioural problems in ASD, we suggest considering on-site genetics services to implement standard of care and counteract the loss of chance to patients and relatives.

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15. Prohl AK, Scherrer B, Tomas-Fernandez X, Davis PE, Filip-Dhima R, Prabhu SP, Peters JM, Bebin EM, Krueger DA, Northrup H, Wu JY, Sahin M, Warfield SK. Early white matter development is abnormal in tuberous sclerosis complex patients who develop autism spectrum disorder. J Neurodev Disord ;2019 (Dec 16) ;11(1):36.

BACKGROUND : Autism spectrum disorder (ASD) is prevalent in tuberous sclerosis complex (TSC), occurring in approximately 50% of patients, and is hypothesized to be caused by disruption of neural circuits early in life. Tubers, or benign hamartomas distributed stochastically throughout the brain, are the most conspicuous of TSC neuropathology, but have not been consistently associated with ASD. Widespread neuropathology of the white matter, including deficits in myelination, neuronal migration, and axon formation, exist and may underlie ASD in TSC. We sought to identify the neural circuits associated with ASD in TSC by identifying white matter microstructural deficits in a prospectively recruited, longitudinally studied cohort of TSC infants. METHODS : TSC infants were recruited within their first year of life and longitudinally imaged at time of recruitment, 12 months of age, and at 24 months of age. Autism was diagnosed at 24 months of age with the ADOS-2. There were 108 subjects (62 TSC-ASD, 55% male ; 46 TSC+ASD, 52% male) with at least one MRI and a 24-month ADOS, for a total of 187 MRI scans analyzed (109 TSC-ASD ; 78 TSC+ASD). Diffusion tensor imaging properties of multiple white matter fiber bundles were sampled using a region of interest approach. Linear mixed effects modeling was performed to test the hypothesis that infants who develop ASD exhibit poor white matter microstructural integrity over the first 2 years of life compared to those who do not develop ASD. RESULTS : Subjects with TSC and ASD exhibited reduced fractional anisotropy in 9 of 17 white matter regions, sampled from the arcuate fasciculus, cingulum, corpus callosum, anterior limbs of the internal capsule, and the sagittal stratum, over the first 2 years of life compared to TSC subjects without ASD. Mean diffusivity trajectories did not differ between groups. CONCLUSIONS : Underconnectivity across multiple white matter fiber bundles develops over the first 2 years of life in subjects with TSC and ASD. Future studies examining brain-behavior relationships are needed to determine how variation in the brain structure is associated with ASD symptoms.

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16. Taylor EC, Livingston LA, Callan MJ, Shah P. Divergent contributions of autistic traits to social psychological knowledge. Proc Natl Acad Sci U S A ;2019 (Dec 17) ;116(51):25378-25379.

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