Pubmed du 25/02/20

mardi 25 février 2020

1. Cracking the mystery of autism spectrum disorder. EBioMedicine ;2020 (Feb) ;52:102691.

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2. Assadi M. Enhancement of behavioral and linguistic outcome measures in autism spectrum disorder through neuro-navigated transcranial magnetic stimulation : A pilot study. J Clin Neurosci ;2020 (Feb 20)

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3. Cabet S, Lesca G, Labalme A, Portes VD, Guibaud L, Sanlaville D, Pons L. Novel truncating and missense variants extending the spectrum of EMC1-related phenotypes, causing autism spectrum disorder, severe global development delay and visual impairment. Eur J Med Genet ;2020 (Feb 21):103897.

The EMC1 gene, located on 1p36.13, encodes the subunit 1 of the endoplasmic reticulum-membrane protein complex, a highly conserved and ubiquitous multiprotein transmembrane complex. Pathogenic monoallelic and biallelic variants in EMC1 in humans have been reported only in six families, causing isolated visual impairment or in association with psychomotor retardation and cerebellar atrophy. We report a ten-year-old boy, born to unrelated parents, with early-onset severe global development delay due to novel EMC1 biallelic pathogenic variants. A truncating variant, p.(Tyr378*) and a missense variant, p.(Phe953Ser), located in exon 11 and 23 of EMC1 gene respectively, have been found by reanalysis of exome sequencing data. The proband’s phenotype included several signs that overlap with the phenotype of previously reported patients, associating severe global developmental delay, abnormal ophthalmological examination, and postnatal slow-down of the head circumference growth. Some distinguishing clinical signs were observed in comparison to patients from literature, such as autism spectrum disorder, absence of seizures, scoliosis or facial dysmorphic features, thus extending the spectrum of EMC1-related phenotypes. Similarly, brain MRI, performed at 2 years, showed normal cerebellar volume and structure, whereas cerebellar atrophy was described in literature. Moreover, difficulties of clinical differential diagnosis between EMC1-associated disease and other etiologies of global development delay support the importance of large-scale genetic investigations. Our diagnostic approach, through reanalysis of exome sequencing data, highlights the importance of reconsidering initial negative results for patients with a strong suspicion of genetic disease, and to update analytic pipelines in order to improve the diagnostic yield of exome sequencing.

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4. Chen HJ, Hsin-Ju Ko M, Li ST, Chiu NC, Hung KL. Prevalence of preschool children developmental disabilities in northeastern Taiwan - Screening with Taipei City Developmental Screening Checklist for Preschoolers, 2nd Version. J Formos Med Assoc ;2020 (Feb 20)

BACKGROUND/PURPOSE : The prevalence of developmental disabilities in Taiwan remains unclear, especially in young children under the age 3. We aimed to study the prevalence of developmental disabilities and verify a useful developmental screening tool in a community setting in Taiwan. METHODS : We conducted a prospective cross-sectional study in northeastern Taiwan from July 2008 to December 2009 in children aged 4 months to 6 years old from well-child visits. We devised a screening program using Taipei City Developmental Screening Checklist for Preschoolers, 2nd Version (Taipei-II), a validated parent-report milestone checklist tailored to the Taiwanese culture and language to assess the prevalence of developmental disabilities in Taiwan. Information about the children’s medical conditions and their family were recorded. RESULTS : A total of 3214 children were recruited, of whom 365 had developmental disabilities, with an overall prevalence of 11.36%. Speech and language delay/disorders were the most common developmental problems followed by motor delays, with prevalence rates of 4.79% and 2.33%, respectively. Low economic status, prematurity and/or small for gestational age and a history of perinatal hypoxia or underlying medical disorders were the main risk factors correlated with developmental delays. However, foreign-born mother and aboriginal families were not important factors for poor developmental outcomes. CONCLUSION : The prevalence rate of developmental disabilities in northeastern Taiwan was 11.36%. Low economic status, prematurity and/or small for gestational age and a history of underlying medical disorders were the main risk factors correlated with developmental disabilities. Taipei II is an easy-to-use and effective developmental surveillance tool for Taiwanese children.

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5. Maye M, Gaston D, Godina I, Conrad JA, Rees J, Rivera R, Lushin V. Playful but Mindful : How to Best Use Positive Affect in Treating Toddlers With Autism. J Am Acad Child Adolesc Psychiatry ;2020 (Mar) ;59(3):336-338.

The best-tested treatments for toddlers with autism spectrum disorder (ASD) are grounded in the principles of applied behavioral analysis (ABA) and blended with developmental science. Examples include Project ImPACT(1) and Early Start Denver Model,(2) among others. ABA-based behavioral interventions use conditioned reinforcement of target behaviors by giving the child access to desired objects and activities as a consequence of performing target behaviors. Unlike the original ABA technique, discrete trial training, ABA-based naturalistic developmental-behavioral interventions (NDBIs) occur in natural environments and employ operant conditioned reinforcement of target behaviors by capitalizing on the child’s interests in objects and activities.(1-3) NDBIs are highly recommended for toddlers and children with autism.(3) Clinical manuals for NDBIs emphasize that clinicians should use modulations of voice and exaggerated facial expressions and gestures to engage toddlers.(1-4) These behaviors are often referred to as positive affect, increased animation, modulation of child affect, or playfulness. Given the range of clinician behaviors described across these constructs and the commonalities between them, within this article we will henceforth refer to the following behaviors as playfulness : positive affect, increased animation, modulation of child affect, and exaggerated facial expressions and gestures. Most NDBIs indicate that playfulness should be thoughtfully employed throughout NDBI sessions in conjunction with other NDBI strategies (eg, contingent responsiveness, balanced turns, child choice) to maintain engagement and build social reciprocity with the child as the clinician and child work together toward treatment goals. However, our clinical and supervisory experiences suggest that many clinicians do not consistently use playfulness as an intervention tool. Instead, according to our observations, many clinicians largely employ neutral affect when providing treatment to toddlers with ASD, even while employing NDBI strategies such as following the child’s lead, contingent responsiveness, and balanced turns. This article presents our clinical perspective on the utility of playfulness for treating toddlers with ASD.

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6. Pagni BA, Walsh MJM, Foldes E, Sebren A, Dixon MV, Guerithault N, Braden BB. The neural correlates of mindfulness-induced depression reduction in adults with autism spectrum disorder : A pilot study. J Neurosci Res ;2020 (Feb 23)

Adults with autism spectrum disorder (ASD) experience high rates of depression and anxiety, and some evidence suggests mindfulness-based stress reduction (MBSR) is effective in reducing these symptoms. However, the neural mechanisms of symptom alleviation, and benefit of MBSR beyond education/support groups are unknown. Maladaptive forms of self-reflection are linked to ASD, depression, and anxiety. In this pilot study, we hypothesized (a) MBSR would reduce depression and anxiety in adults with ASD and (b) a mechanism of symptom alleviation would be increased blood oxygen level-dependent signal in neural self-reflection hubs. Twenty-eight adults were randomly assigned to an 8-week MBSR group (n = 15) or a support group (n = 13) that met for the same amount of time with relaxation education materials. Based on previous self-reflection literature in ASD, regions of interest (ROIs) were middle cingulate cortex (MCC) and ventromedial prefrontal cortex (vmPFC). Only the MBSR group demonstrated significant reductions in depression, and neither group significantly changed in anxiety. Only the MBSR group increased activity of right MCC during self-reflection, and the increase correlated with depression alleviation. There were no changes in vmPFC for the MBSR group or either ROI for the support/education group. Seed-to-voxel connectivity analysis revealed that only the MBSR group increased functional connectivity between right MCC and pre/postcentral gyrus, suggesting MBSR may increase primary sensorimotor input to higher order cognitive brain regions. Taken together, MBSR may be effective for reducing depression in adults with ASD, and the neural mechanism may be increasing frontal circuit involvement during self-directed thought.

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7. Richards R, Greimel E, Kliemann D, Koerte IK, Schulte-Korne G, Reuter M, Wachinger C. Increased hippocampal shape asymmetry and volumetric ventricular asymmetry in autism spectrum disorder. Neuroimage Clin ;2020 (Feb 5) ;26:102207.

Autism spectrum disorder (ASD) is a prevalent and fast-growing pervasive neurodevelopmental disorder worldwide. Despite the increasing prevalence of ASD and the breadth of research conducted on the disorder, a conclusive etiology has yet to be established and controversy still exists surrounding the anatomical abnormalities in ASD. In particular, structural asymmetries have seldom been investigated in ASD, especially in subcortical regions. Additionally, the majority of studies for identifying structural biomarkers associated with ASD have focused on small sample sizes. Therefore, the present study utilizes a large-scale, multi-site database to investigate asymmetries in the amygdala, hippocampus, and lateral ventricles, given the potential involvement of these regions in ASD. Contrary to prior work, we are not only computing volumetric asymmetries, but also shape asymmetries, using a new measure of asymmetry based on spectral shape descriptors. This measure represents the magnitude of the asymmetry and therefore captures both directional and undirectional asymmetry. The asymmetry analysis is conducted on 437 individuals with ASD and 511 healthy controls using T1-weighted MRI scans from the Autism Brain Imaging Data Exchange (ABIDE) database. Results reveal significant asymmetries in the hippocampus and the ventricles, but not in the amygdala, in individuals with ASD. We observe a significant increase in shape asymmetry in the hippocampus, as well as increased volumetric asymmetry in the lateral ventricles in individuals with ASD. Asymmetries in these regions have not previously been reported, likely due to the different characterization of neuroanatomical asymmetry and smaller sample sizes used in previous studies. Given that these results were demonstrated in a large cohort, such asymmetries may be worthy of consideration in the development of neurodiagnostic classification tools for ASD.

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8. Salimy Z, Akbari MT, Deilamani FK. Assessment of FMR1 triplet repeats in patients affected with mental retardation, fragile X syndrome and primary ovarian insufficiency. J Genet ;2020 ;99

The CGG repeats in the FMR1 gene expand in patients with fragile X syndrome, fragile X-associated tremour/ataxia syndrome and fragile X-associated primary ovarian failure. In this study, the CGG repeats in the FMR1 gene were studied in 449 males and 207 females using traditional polymerase chain reaction and triplet repeat primed PCR methods, also 18 CVS samples (six males and 12 females) were tested for prenatal diagnosis. Further, methylation sensitive multiplexed ligation dependent probe amplification was performed on some samples to confirm the results. Regarding the male patients, 1.1% and 9.7% had premutation (PM) and full mutation (FM) alleles, respectively. Also three (0.66%) male patients were mosaic for PM and FM alleles. Among females, 1.9% were GZ carriers and 5.8% were PM carriers. Prenatal diagnosis resulted in detection of two PM and one FM males as well as one FM carrier female. Our results were in concordance with the previously published results.

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9. Tan MM, Dy JB, Salcedo-Arellano MJ, Tassone F, Hagerman RJ. Fragile X- associated Neuropsychiatric Disorders : A Case Report. Future Neurol ;2019 (May) ;14(2)

Mutations in the Fragile X Mental Retardation 1 (FMR1) gene create a spectrum of developmental disorders in children in addition to neurodegenerative problems in older populations. Two types of mutations are recognized in the FMR1 gene. The full mutation (>200 CGG repeats) in the FMR1 gene leads to Fragile X Syndrome which is the most common inherited cause of intellectual disability and autism, while the premutation (55 to 200 CGG repeats) identified among carriers leads to a range of problems linked to elevated levels of the FMR1 mRNA leading to mRNA toxicity and occasionally mildly deficient FMRP levels. Two disorders among premutation carriers have been recognized namely : the Fragile X-associated Primary Ovarian Insufficiency (FXPOI) and Fragile X-associated Tremor/Ataxia Syndrome (FXTAS). Recently, in order to recognize a group of associated disorders commonly found in premutation carriers and extensively reported in co-morbidities studies, a new distinctive name was proposed : Fragile X-associated Neuropsychiatric Disorders (FXAND). This paper will present a case report of a female premutation carrier who has encountered predominantly psychiatric problems, but also chronic pain and sleep disturbances consistent with FXAND.

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