Pubmed du 16/06/19

dimanche 16 juin 2019

1. Aoki S, Kagitani-Shimono K, Matsuzaki J, Hanaie R, Nakanishi M, Tominaga K, Nagai Y, Mohri I, Taniike M. Lesser suppression of response to bright visual stimuli and visual abnormality in children with autism spectrum disorder : a magnetoencephalographic study. J Neurodev Disord. 2019 ; 11(1) : 9.

BACKGROUND : Visual abnormality is a common sensory impairment in autism spectrum disorder (ASD), which may cause behavioral problems. However, only a few studies exist on the neural features corresponding to the visual symptoms in ASD. The purpose of this study was to investigate the relationship between cortical responses to visual stimuli and visual abnormality to examine the neurophysiological mechanisms of the visual abnormality in ASD. METHODS : Twenty-two high-functioning children with ASD (10.95 +/- 2.01 years old) and 23 age-matched typically developing (TD) children (10.13 +/- 2.80 years old) participated in this study. We measured the cortical responses (i.e., activated intensity and attenuation ratio) elicited by the Original visual image and other two types of bright images (the Dot noise or Blind image, which includes overlapped particles onto the Original image or the enhanced-brightness version of the Original image, respectively) using magnetoencephalography. RESULTS : The severity of visual abnormalities was significantly associated with behavioral problems in children with ASD. In addition, we found the increased cortical activation in response to the Original image in the left supramarginal gyrus (SMG) and middle temporal gyrus in children with ASD. However, there were no inter-group differences in the primary visual and medial orbitofrontal cortices. Furthermore, when we compared cortical responses according to the type of images, children with ASD showed lesser attenuation of the activated intensities than children with TD in response to the bright images compared with the Original image in the right SMG. These attenuation ratios (Dot noise/Original and Blind/Original) were also associated with the severity of visual abnormalities. CONCLUSIONS : Our results show that dysfunction of stimulus-driven neural suppression plays a crucial role in the neural mechanism of visual abnormality in children with ASD. To the best of our knowledge, this is the first magnetoencephalography study to demonstrate the association between the severity of visual abnormality and lower attenuation ratios in children with ASD. Our results contribute to the knowledge of the mechanisms underlying visual abnormality in children with ASD, and may therefore lead to more effective diagnosis and earlier intervention.

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2. Baker JK, Fenning RM, Moffitt J. A Cross-Sectional Examination of the Internalization of Emotion Co-regulatory Support in Children with ASD. J Autism Dev Disord. 2019.

Cross-sectional data from Fenning et al. (J Autism Dev Disord, 48:3858-3870, 2018) were used to examine age differences in processes related to the development of emotion regulation in children with autism spectrum disorder (ASD). Forty-six children with ASD between the ages of 4 and 11 years and their primary caregivers participated in structured laboratory tasks from which parental scaffolding and child dysregulation were coded. Moderation analyses suggested increased internalization of parental co-regulatory support with age, as evidenced by more coherence in dysregulation across dyadic and independent contexts and a stronger inverse relation between parental scaffolding and independent dysregulation. Children’s estimated mental age did not account for these effects. Implications for understanding and promoting the development of emotion regulation in children with ASD are discussed.

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3. Catala-Lopez F, Ridao M, Hurtado I, Nunez-Beltran A, Genova-Maleras R, Alonso-Arroyo A, Tobias A, Aleixandre-Benavent R, Catala MA, Tabares-Seisdedos R. Prevalence and comorbidity of autism spectrum disorder in Spain : study protocol for a systematic review and meta-analysis of observational studies. Systematic reviews. 2019 ; 8(1) : 141.

BACKGROUND : Autism spectrum disorder (ASD) is a complex developmental disorder characterised by impaired social interaction and communication, and restrictive and repetitive behaviour. Previous systematic reviews have traditionally assessed the prevalence of ASD on global or regional context, with very few meta-analyses at the country level. The objective of this study will be to systematically evaluate published and unpublished observational studies that present prevalence and comorbidity of ASD among children, adolescent and adult population in Spain. METHODS/DESIGN : We designed and registered a study protocol for a systematic review and meta-analysis of descriptive epidemiology data. Observational studies (cohort, cross-sectional) reporting the prevalence of ASD and conducted in a wide range of people (e.g. general population, outpatient and/or school settings) will be included. The primary outcome will be the prevalence of ASD. Secondary outcomes will be the prevalence of any physical or mental comorbidity in association with ASD. No limitations will be imposed on publication status, study conduct period, and language of dissemination. Comprehensive literature searches will be conducted in seven electronic databases (from January 1980 onwards), including PubMed/MEDLINE, EMBASE, Scopus, Web of Science, PsycINFO, IME-Spanish Medical Index and IBECS-Spanish Bibliographic Index of Health Sciences. Grey literature will be identified through searching dissertation databases, Google Scholar and conference abstracts. Two team members will independently screen all citations, full-text articles, and abstract data. Potential conflicts will be resolved through discussion. The study methodological quality (or bias) will be appraised using an appropriate tool. If feasible, we will conduct random effects meta-analysis of observational data. Prevalence estimates will be stratified according to gender, age and geographical location. Additional analyses will be conducted to explore the potential sources of heterogeneity (e.g. methodological quality, sample size, diagnostic criteria). DISCUSSION : This systematic review and meta-analysis of observational data will identify, evaluate and integrate the epidemiological knowledge underlying the prevalence of ASD in Spain. The results of this study will be of interest to multiple audiences including patients, their families, caregivers, healthcare professional, scientists and policy makers. Results will be published in a peer-reviewed journal. Implications for future epidemiological research will be discussed. SYSTEMATIC REVIEW REGISTRATION : PROSPERO CRD42018090372.

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4. Connolly S, Anney R, Gallagher L, Heron EA. Evidence of Assortative Mating in Autism Spectrum Disorder. Biol Psychiatry. 2019.

BACKGROUND : Assortative mating is a nonrandom mating system in which individuals with similar genotypes and/or phenotypes mate with one another more frequently than would be expected in a random mating system. Assortative mating has been hypothesized to play a role in autism spectrum disorder (ASD) in an attempt to explain some of the increase in the prevalence of ASD that has recently been observed. ASD is considered to be a heritable neurodevelopmental disorder, but there is limited understanding of its causes. Assortative mating can be explored through both phenotypic and genotypic data, but up until now it has never been investigated through genotypic measures in ASD. METHODS : We investigated genotypically similar mating pairs using genome-wide single nucleotide polymorphism data on trio families (Autism Genome Project data [1590 parents] and Simons Simplex Collection data [1962 parents]). To determine whether or not an excess in genetic similarity was present, we employed kinship coefficients and examined spousal correlation between the principal components in both the Autism Genome Project and Simons Simplex Collection datasets. We also examined assortative mating using phenotype data on the parents to detect any correlation between ASD traits. RESULTS : We found significant evidence of genetic similarity between the parents of ASD offspring using both methods in the Autism Genome Project dataset. In the Simons Simplex Collection, there was also significant evidence of genetic similarity between the parents when explored through spousal correlation. CONCLUSIONS : This study gives further support to the hypothesis that positive assortative mating plays a role in ASD.

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5. Guevara-Campos J, Gonzalez-Guevara L, Guevara-Gonzalez J, Cauli O. First Case Report of Primary Carnitine Deficiency Manifested as Intellectual Disability and Autism Spectrum Disorder. Brain Sci. 2019 ; 9(6).

Systemic primary carnitine deficiency (PCD) is a genetic disorder caused by decreased or absent organic cation transporter type 2 (OCTN2) carnitine transporter activity, resulting in low serum carnitine levels and decreased carnitine accumulation inside cells. In early life, PCD is usually diagnosed as a metabolic decompensation, presenting as hypoketotic hypoglycemia, Reye syndrome, or sudden infant death ; in childhood, PCD presents with skeletal or cardiac myopathy. However, the clinical presentation of PCD characterized by autism spectrum disorder (ASD) with intellectual disability (ID) has seldom been reported in the literature. In this report, we describe the clinical features of a seven-year-old girl diagnosed with PCD who presented atypical features of the disease, including a developmental delay involving language skills, concentration, and attention span, as well as autistic features and brain alterations apparent in magnetic resonance imaging. We aim to highlight the difficulties related to the diagnostic and therapeutic approaches used to diagnose such patients. The case reported here presented typical signs of PCD, including frequent episodes of hypoglycemia, generalized muscle weakness, decreased muscle mass, and physical growth deficits. A molecular genetic study confirmed the definitive diagnosis of the disease (c.1345T>G (p.Y449D)) in gene SLC22A5, located in exon 8. PCD can be accompanied by less common clinical signs, which may delay its diagnosis because the resulting global clinical picture can closely resemble other metabolic disorders. In this case, the patient was prescribed a carnitine-enriched diet, as well as oral carnitine at a dose of 100 mg/kg/day. PCD has a better prognosis if it is diagnosed and treated early ; however, a high level of clinical suspicion is required for its timely and accurate diagnosis.

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6. Keehn B, Kadlaskar G, McNally Keehn R, Francis AL. Auditory Attentional Disengagement in Children with Autism Spectrum Disorder. J Autism Dev Disord. 2019.

Despite early differences in orienting to sounds, no study to date has investigated whether children with ASD demonstrate impairments in attentional disengagement in the auditory modality. Twenty-one 9-15-year-old children with ASD and 20 age- and IQ-matched TD children were presented with an auditory gap-overlap paradigm. Evidence of impaired disengagement in ASD was mixed. Differences in saccadic reaction time for overlap and gap conditions did not differ between groups. However, children with ASD did show increased no-shift trials in the overlap condition, as well as reduced disengagement efficiency compared to their TD peers. These results provide further support for disengagement impairments in ASD, and suggest that these deficits include disengaging from and shifting to unimodal auditory information.

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7. Kerns CM, Berkowitz SJ, Moskowitz LJ, Drahota A, Lerner MD, Newschaffer CJ. Screening and treatment of trauma-related symptoms in youth with autism spectrum disorder among community providers in the United States. Autism. 2019 : 1362361319847908.

Using a cross-sectional survey of 673 multidisciplinary autism spectrum disorder providers recruited from five different sites in the United States, we examined the frequency with which community-based providers inquire about, screen, and treat trauma-related symptoms in their patients/students and assessed their perceptions regarding the need for and barriers to providing these services. Univariate and bivariate frequencies of self-reported trauma service provision, training needs, and barriers were estimated. Multivariable logistic regressions identified provider and patient-related factors associated with trauma-related symptoms screening and treatment. Over 50% of providers reported some screening and treatment of trauma-related symptoms in youth with autism spectrum disorder. Over 70% informally inquired about trauma-related symptoms ; only 10% universally screened. Screening and treatment varied by provider discipline, setting, amount of interaction, and years of experience with autism spectrum disorder, as well as by patient/student sex, ethnicity, and socioeconomic status. Most providers agreed that trauma screening is a needed service impeded by inadequate provider training in trauma identification and treatment. The findings indicate that community providers in the United States of varied disciplines are assessing and treating trauma-related symptoms in youth with autism spectrum disorder, and that evidence-based approaches are needed to inform and maximize these efforts.

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8. Koller J, Shalev R, Schallamach C, Gumpel TP, Begin M. The Role of Demographics in the Age of Autism Diagnosis in Jerusalem. J Autism Dev Disord. 2019.

Early diagnosis of autism spectrum disorder (ASD) in children enables earlier access to services and better ability to predict subsequent development. A vast body of literature consistently shows discrepancies in the age of diagnosis between children from varying socio-economic levels, cultural and ethnic backgrounds. The present study examines the effect of sociodemographic factors on age of ASD diagnosis among the three primary ethnic sectors in Jerusalem region : secular and modern religious Jews, ultra-Orthodox Jews and Arabs. Findings indicate minimal differences in age of diagnosis prior to the age of six, although Arab children of this age were largely minimally verbal. After age six, no Arab children were referred for an evaluation.

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9. Ng R, Heinrich K, Hodges E. Associations Between ADHD Subtype Symptomatology and Social Functioning in Children With ADHD, Autism Spectrum Disorder, and Comorbid Diagnosis : Utility of Diagnostic Tools in Treatment Considerations. Journal of attention disorders. 2019 : 1087054719855680.

Objective : To assess associations between objective-/caregiver-report measures of attention functioning and social impairment among children with ADHD, autism spectrum disorder (ASD), and co-occurring ASD + ADHD. Method : Patients with ADHD (N = 27), ASD (N = 23), and ASD + ADHD (N = 44) completed measures of intellectual functioning (Wechsler tests) and attention functioning (Continuous Performance Test-Second Edition [CPT-II]) as part of a neurocognitive assessment. Caregivers completed the Conners Third Edition to assess day-to-day inattentiveness, hyperactivity/impulsivity, and the Social Responsiveness Scale (SRS) to assess social functioning. Results : Among patients with ADHD, attention measures contributed to 48% of the variance in total SRS scores, with caregiver-reported hyperactivity/impulsivity as the strongest factor. In contrast, among those with ASD + ADHD, attention measures accounted for 40% of the variance, largely due to inattention problems. No associations between domains were observed among patients with ASD. Conclusion : Differential ADHD symptoms are associated with social impairment among children with ADHD versus ASD + ADHD ; whereas, no associations were observed among those with ASD.

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10. Tang S, Terzic B, Wang IJ, Sarmiento N, Sizov K, Cui Y, Takano H, Marsh ED, Zhou Z, Coulter DA. Altered NMDAR signaling underlies autistic-like features in mouse models of CDKL5 deficiency disorder. Nat Commun. 2019 ; 10(1) : 2655.

CDKL5 deficiency disorder (CDD) is characterized by epilepsy, intellectual disability, and autistic features, and CDKL5-deficient mice exhibit a constellation of behavioral phenotypes reminiscent of the human disorder. We previously found that CDKL5 dysfunction in forebrain glutamatergic neurons results in deficits in learning and memory. However, the pathogenic origin of the autistic features of CDD remains unknown. Here, we find that selective loss of CDKL5 in GABAergic neurons leads to autistic-like phenotypes in mice accompanied by excessive glutamatergic transmission, hyperexcitability, and increased levels of postsynaptic NMDA receptors. Acute, low-dose inhibition of NMDAR signaling ameliorates autistic-like behaviors in GABAergic knockout mice, as well as a novel mouse model bearing a CDD-associated nonsense mutation, CDKL5 R59X, implicating the translational potential of this mechanism. Together, our findings suggest that enhanced NMDAR signaling and circuit hyperexcitability underlie autistic-like features in mouse models of CDD and provide a new therapeutic avenue to treat CDD-related symptoms.

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