Pubmed du 21/01/16

Pubmed du jour

2016-01-21 12:03:50

1. {{Antidepressants in pregnancy and autism}}. {Arch Dis Child};2016 (Jan 19)

Lien vers le texte intégral (Open Access ou abonnement)

2. {{Study finds differences in social skills between girls and boys with autism}}. {Nurs Stand};2016 (Jan 20);30(21):15.

Girls with autism are more socially motivated and have more intimate friendships than boys with the condition, but do not recognise conflict in these friendships as well as girls without autism, a study suggests.

Lien vers le texte intégral (Open Access ou abonnement)

3. Grzadzinski R, Dick C, Lord C, Bishop S. {{Parent-reported and clinician-observed autism spectrum disorder (ASD) symptoms in children with attention deficit/hyperactivity disorder (ADHD): implications for practice under DSM-5}}. {Mol Autism};2016;7:7.

BACKGROUND: Children with attention deficit/hyperactivity disorder (ADHD) often present with social difficulties, though the extent to which these clearly overlap with symptoms of autism spectrum disorder (ASD) is not well understood. METHODS: We explored parent-reported and directly-observed ASD symptoms on the Autism Diagnostic Interview-Revised (ADI-R) and the Autism Diagnostic Observation Schedule (ADOS) in children referred to ASD-specialty clinics who received diagnoses of either ADHD (n = 48) or ASD (n = 164). RESULTS: Of the ADHD sample, 21 % met ASD cut-offs on the ADOS and 30 % met ASD cut-offs on all domains of the ADI-R. Four social communication ADOS items (Quality of Social Overtures, Unusual Eye Contact, Facial Expressions Directed to Examiner, and Amount of Reciprocal Social Communication) adequately differentiated the groups while none of the items on the ADI-R met the criteria for adequate discrimination. CONCLUSIONS: Results of this work highlight the challenges that clinicians and researchers face when distinguishing ASD from other disorders in verbally fluent, school-age children.

Lien vers le texte intégral (Open Access ou abonnement)

4. Jacobs LA, Rachlin K, Erickson-Schroth L, Janssen A. {{Gender Dysphoria and Co-Occurring Autism Spectrum Disorders: Review, Case Examples, and Treatment Considerations}}. {LGBT Health};2014 (Dec);1(4):277-282.

PURPOSE: Transgender and gender nonconforming people who fulfill diagnostic criteria for autism spectrum disorders (ASDs) often present to mental health providers with concerns that are distinct from those without ASDs. Gender Dysphoria (GD) and ASDs have been proposed to share etiologic mechanisms and there is evidence that ASDs may be more common in transgender and gender nonconforming people. We explore the impact of ASD characteristics on individual gender identity, expression, and the process of psychotherapy. METHOD: The authors present two case studies of high-functioning individuals with ASD and GD diagnoses. RESULTS: The limited ability to articulate an inner experience, deficits in Theory of Mind (ToM), along with the intolerance of ambiguity as a manifestation of the cognitive rigidity characteristic of ASDs, may present special difficulties to gender identity formation and consolidation and create challenges in psychotherapy. CONCLUSIONS: The authors suggest that ASDs do not preclude gender transition and that individuals with high-functioning ASDs are capable of making informed decisions regarding their medical care and life choices. The authors also consider possible challenges and suggest techniques for assisting such clients in exploring their gender identities.

Lien vers le texte intégral (Open Access ou abonnement)

5. Kranz TM, Kopp M, Waltes R, Sachse M, Duketis E, Jarczok TA, Degenhardt F, Gorgen K, Meyer J, Freitag CM, Chiocchetti AG. {{Meta-analysis and association of two common polymorphisms of the human oxytocin receptor gene in autism spectrum disorder}}. {Autism Res};2016 (Jan 20)
Neuropeptides such as oxytocin (OXT) are known facilitators of social behavior across species. Variants of the OXT receptor gene (OXTR) have been tested for association with autism spectrum disorder (ASD) across manifold ethnicities, yielding both positive and negative findings. A recent meta-analysis, comprising 16 single nucleotide polymorphisms (SNPs), has corroborated the implication of OXTR in the etiology of ASD. Here, we genotyped and tested two additional variants (rs237889 and rs237897) for association with ASD in two German predominantly high-functioning ASD samples. We found nominal over-transmission (OR = 1.48, CI95 = 1.06-2.08, P = 0.022) for the minor A allele of variant rs237889G>A in sample 1 (N = 135 complete parent-offspring trios, 29 parent child duos), but not in sample 2 (362 trios, 69 duos). Still, in a meta-analysis comprising four different studies including the two unreported German data sets (N = 542 families), this finding was confirmed (OR = 1.12; CI95 = 1.01-1.24, random effects P = 0.012). In addition, carriers of the minor risk allele rs237889-A showed significantly increased severity scores, as assessed through the autism diagnostic interview – revised (ADI-R), with highly significant increases in social interaction deficits. Our results corroborate the implication of common OXTR variants in the etiology of ASD. There is a need for functional studies to delineate the neurobiological implications of this and other association findings. (172/250). Autism Res 2016. (c) 2016 International Society for Autism Research, Wiley Periodicals, Inc.

Lien vers le texte intégral (Open Access ou abonnement)

6. Kumazaki H, Muramatsu T, Fujisawa TX, Miyao M, Matsuura E, Okada K, Kosaka H, Tomoda A, Mimura M. {{Assessment of olfactory detection thresholds in children with autism spectrum disorders using a pulse ejection system}}. {Mol Autism};2016;7:6.

BACKGROUND: Atypical responsiveness to olfactory stimuli has been reported as the strongest predictor of social impairment in children with autism spectrum disorders (ASD). However, previous laboratory-based sensory psychophysical studies that have aimed to investigate olfactory sensitivity in children with ASD have produced inconsistent results. The methodology of these studies is limited by several factors, and more sophisticated approaches are required to produce consistent results. METHODS: We measured olfactory detection thresholds in children with ASD and typical development (TD) using a pulse ejection system-a newly developed methodology designed to resolve problems encountered in previous studies. The two odorants used as stimuli were isoamyl acetate and allyl caproate. RESULTS: Forty-three participants took part in this study: 23 (6 females, 17 males) children with ASD and 20 with TD (6 females, 14 males). Olfactory detection thresholds of children with ASD were significantly higher than those of TD children with both isoamyl acetate (2.85 +/- 0.28 vs 1.57 +/- 0.15; p < 0.001) and allyl caproate ( 3.30 +/- 0.23 vs 1.17 +/- 0.08; p < 0.001). CONCLUSIONS: We found impaired olfactory detection thresholds in children with ASD. Our results contribute to a better understanding of the olfactory abnormalities that children with ASD experience. Considering the role and effect that odors play in our daily lives, insensitivity to some odorants might have a tremendous impact on children with ASD. Future studies of olfactory processing in ASD may reveal important links between brain function, clinically relevant behavior, and treatment. Lien vers le texte intégral (Open Access ou abonnement)

7. Lima-Cabello E, Garcia-Guirado F, Calvo-Medina R, El Bekay R, Perez-Costillas L, Quintero-Navarro C, Sanchez-Salido L, de Diego-Otero Y. {{An Abnormal Nitric Oxide Metabolism Contributes to Brain Oxidative Stress in the Mouse Model for the Fragile X Syndrome, a Possible Role in Intellectual Disability}}. {Oxid Med Cell Longev};2016;2016:8548910.

Background. Fragile X syndrome is the most common genetic cause of mental disability. Although many research has been performed, the mechanism underlying the pathogenesis is unclear and needs further investigation. Oxidative stress played major roles in the syndrome. The aim was to investigate the nitric oxide metabolism, protein nitration level, the expression of NOS isoforms, and furthermore the activation of the nuclear factor NF-kappaB-p65 subunit in different brain areas on the fragile X mouse model. Methods. This study involved adult male Fmr1-knockout and wild-type mice as controls. We detected nitric oxide metabolism and the activation of the nuclear factor NF-kappaBp65 subunit, comparing the mRNA expression and protein content of the three NOS isoforms in different brain areas. Results. Fmr1-KO mice showed an abnormal nitric oxide metabolism and increased levels of protein tyrosine nitrosylation. Besides that, nuclear factor NF-kappaB-p65 and inducible nitric oxide synthase appeared significantly increased in the Fmr1-knockout mice. mRNA and protein levels of the neuronal nitric oxide synthase appeared significantly decreased in the knockout mice. However, the epithelial nitric oxide synthase isoform displayed no significant changes. Conclusions. These data suggest the potential involvement of an abnormal nitric oxide metabolism in the pathogenesis of the fragile X syndrome.

Lien vers le texte intégral (Open Access ou abonnement)

8. Retico A, Giuliano A, Tancredi R, Cosenza A, Apicella F, Narzisi A, Biagi L, Tosetti M, Muratori F, Calderoni S. {{The effect of gender on the neuroanatomy of children with autism spectrum disorders: a support vector machine case-control study}}. {Mol Autism};2016;7:5.

BACKGROUND: Genetic, hormonal, and environmental factors contribute since infancy to sexual dimorphism in regional brain structures of subjects with typical development. However, the neuroanatomical differences between male and female children with autism spectrum disorders (ASD) are an intriguing and still poorly investigated issue. This study aims to evaluate whether the brain of young children with ASD exhibits sex-related structural differences and if a correlation exists between clinical ASD features and neuroanatomical underpinnings. METHODS: A total of 152 structural MRI scans were analysed. Specifically, 76 young children with ASD (38 males and 38 females; 2-7 years of age; mean = 53 months, standard deviation = 17 months) were evaluated employing a support vector machine (SVM)-based analysis of the grey matter (GM). Group comparisons consisted of 76 age-, gender- and non-verbal-intelligence quotient-matched children with typical development or idiopathic developmental delay without autism. RESULTS: For both genders combined, SVM showed a significantly increased GM volume in young children with ASD with respect to control subjects, predominantly in the bilateral superior frontal gyrus (Brodmann area -BA- 10), bilateral precuneus (BA 31), bilateral superior temporal gyrus (BA 20/22), whereas less GM in patients with ASD was found in right inferior temporal gyrus (BA 37). For the within gender comparisons (i.e., females with ASD vs. controls and males with ASD vs. controls), two overlapping regions in bilateral precuneus (BA 31) and left superior frontal gyrus (BA 9/10) were detected. Sex-by-group analyses revealed in males with ASD compared to matched controls two male-specific regions of increased GM volume (left middle occipital gyrus-BA 19-and right superior temporal gyrus-BA 22). Comparisons in females with and without ASD demonstrated increased GM volumes predominantly in the bilateral frontal regions. Additional regions of significantly increased GM volume in the right anterior cingulate cortex (BA 32) and right cerebellum were typical only of females with ASD. CONCLUSIONS: Despite the specific behavioural correlates of sex-dimorphism in ASD, brain morphology as yet remains unclear and requires future dedicated investigations. This study provides evidence of structural brain gender differences in young children with ASD that possibly contribute to the different phenotypic disease manifestations in males and females.

Lien vers le texte intégral (Open Access ou abonnement)

9. Wicker B, Monfardini E, Royet JP. {{Olfactory processing in adults with autism spectrum disorders}}. {Mol Autism};2016;7:4.

BACKGROUND: As evidenced in the DSM-V, autism spectrum disorders (ASD) are often characterized by atypical sensory behavior (hyper- or hypo-reactivity), but very few studies have evaluated olfactory abilities in individuals with ASD. METHODS: Fifteen adults with ASD and 15 typically developing participants underwent olfactory tests focused on superficial (suprathreshold detection task), perceptual (intensity and pleasantness judgment tasks), and semantic (identification task) odor processing. RESULTS: In terms of suprathreshold detection performance, decreased discrimination scores and increased bias scores were observed in the ASD group. Furthermore, the participants with ASD exhibited increased intensity judgment scores and impaired scores for pleasantness judgments of unpleasant odorants. Decreased identification performance was also observed in the participants with ASD compared with the typically developing participants. This decrease was partly attributed to a higher number of near misses (a category close to veridical labels) among the participants with ASD than was observed among the typically developing participants. CONCLUSIONS: The changes in discrimination and bias scores were the result of a high number of false alarms among the participants with ASD, which suggests the adoption of a liberal attitude in their responses. Atypical intensity and pleasantness ratings were associated with hyperresponsiveness and flattened emotional reactions, respectively, which are typical of participants with ASD. The high number of near misses as non-veridical labels suggested that categorical processing is functional in individuals with ASD and could be explained by attention-deficit/hyperactivity disorder. These findings are discussed in terms of dysfunction of the olfactory system.

Lien vers le texte intégral (Open Access ou abonnement)