1. Balta B, Gumus H, Bayramov R, Korkmaz Bayramov K, Erdogan M, Oztop DB, Dogan ME, Taheri S, Dundar M. {{Increased vitamin D receptor gene expression and rs11568820 and rs4516035 promoter polymorphisms in autistic disorder}}. {Mol Biol Rep};2018 (May 18)
Although there are a large number of sequence variants of different genes and copy number variations at various loci identified in autistic disorder (AD) patients, the pathogenesis of AD has not been elucidated completely. Recently, in AD patients, a large number of expression array and transcriptome studies have shown an increase in the expression of genes especially related to innate immune response. Antimicrobial effects of vitamin D and VDR are exerted through Toll-Like-Receptors (TLR) which have an important role in the innate immune response, are expressed by antigen presenting cells and recognize foreign microorganisms. In this study, age and gender matched 30 patients diagnosed with AD and 30 healthy controls were included in the study. Comparatively whole blood VDR gene expression and rs11568820 and rs4516035 SNP profile of the promoter region of the VDR gene were investigated by real time PCR. Whole blood VDR gene expression was significantly higher in the AD group compared to control subjects (p < 0.0001). There were no significant differences among allele and genotype distribution of rs11568820 and rs4516035 polymorphisms between AD patients and controls. The increase of VDR gene expression in patients with AD may be in accordance with an increase in the innate immune response in patients with AD. Furthermore, this study will stimulate new studies in order to clarify the relationship among AD, vitamin D, VDR, and innate immunity. Lien vers le texte intégral (Open Access ou abonnement)
2. Deutsch SI, Raffaele CT. {{Understanding facial expressivity in autism spectrum disorder: An inside out review of the biological basis and clinical implications}}. {Prog Neuropsychopharmacol Biol Psychiatry};2018 (May 16)
Deficits in decoding and understanding facially expressed emotions occur commonly in persons with autism spectrum disorder (ASD), which contribute to the impairment of social communication that serves as one of its core diagnostic criteria. Research suggests that abnormalities of visual scanning of the face, activation of key nodes within the « social brain » by facially expressed emotions, functional connectivity within and between nodes of the « social brain », and transduction of specific neurotransmitter/neuromodulatory signals contribute to the pathogenesis of these deficits in at least some persons with ASD. Importantly, the etiologies of these deficits are heterogeneous and include genetic, immunologic, and inflammatory mechanisms, as well as in utero exposures to drugs and toxins. The manifestation and severity of these deficits can also be influenced by developmental age, IQ and genetic background. Consistent with the goals of the Special Issue, the current Review is intended to familiarize the readership with several of the leading neurobiological mechanisms proposed to underlie these deficits in decoding facially expressed emotions and stimulate interest in translational preclinical and clinical investigations, whose ultimate purpose is to attenuate their severity and, thereby, improve functional outcomes of persons with ASD.
Lien vers le texte intégral (Open Access ou abonnement)
3. Fukushi D, Yamada K, Suzuki K, Inaba M, Nomura N, Suzuki Y, Katoh K, Mizuno S, Wakamatsu N. {{Clinical and genetic characterization of a patient with SOX5 haploinsufficiency caused by a de novo balanced reciprocal translocation}}. {Gene};2018 (May 20);655:65-70.
Lamb-Shaffer syndrome (OMIM: 616803) is a neurodevelopmental disorder characterized by developmental delay, mild to moderate intellectual disability, speech delay, and mild characteristic facial appearance caused by SOX5 haploinsufficiency on chromosome 12p12.1. There are clinical variabilities among the patients with genomic alterations, such as intragenic deletions, a point mutation, and a chromosomal translocation of t(11;12)(p13;p12.1), in SOX5. We report herein a 5-year-old Japanese male with a de novo balanced reciprocal translocation t(12;20)(p12.1;p12.3) presenting a mild intellectual disability, speech delay, characteristic facial appearance, and autistic features. We determined the translocation breakpoints of the patient to be in intron 4 of SOX5 and the intergenic region in 20p12.3 via FISH and nucleotide sequence analyses. Thus, the present patient has SOX5 haploinsufficiency affecting 2 long forms of SOX5 and is the second reported case of Lamb-Shaffer syndrome caused by a de novo balanced reciprocal translocation. This report confirmed that haploinsufficiency of the 2 long forms of SOX5 presents common clinical features, including mild intellectual disability and autistic features, which could be useful for the clinical diagnosis of Lamb-Shaffer syndrome.
Lien vers le texte intégral (Open Access ou abonnement)
4. Harrop C, Jones D, Zheng S, Nowell S, Boyd BA, Sasson N. {{Circumscribed Interests and Attention in Autism: The Role of Biological Sex}}. {J Autism Dev Disord};2018 (May 18)
Recent studies suggest that circumscribed interests (CI) in females with Autism Spectrum Disorder (ASD) may align more closely with interests reported in typical female development than those typically reported for ASD males. We used eye-tracking to quantify attention to arrays containing combinations of male, female and neutral images in elementary-aged males and females with and without ASD. A number of condition x sex effects emerged, with both groups attending to images that corresponded with interests typically associated with their biological sex. Diagnostic effects reported in similar studies were not replicated in our modified design. Our findings of more typical attention patterns to gender-typical images in ASD females is consistent with evidence of sex differences in CI and inconsistent with the « Extreme Male Brain » theory of ASD.
Lien vers le texte intégral (Open Access ou abonnement)
5. Nagib W, Williams A. {{Creating « therapeutic landscapes » at home: The experiences of families of children with autism}}. {Health Place};2018 (May 16);52:46-54.
This study explores the challenges faced within the home environment by North American families of children with autism. The study also examines the diversity and extent of physical modifications introduced by the families to alleviate these challenges. The concept of therapeutic landscapes is employed as a framework to examine how physical modifications transform the home environment into a place of healing for both the children with autism and their family members. Finally, the study offers a general design framework that can ultimately guide home designers and policymakers in developing friendly home environments for children with autism and their families.
Lien vers le texte intégral (Open Access ou abonnement)
6. Rague L, Caravella K, Tonnsen B, Klusek J, Roberts J. {{Early gesture use in fragile X syndrome}}. {J Intellect Disabil Res};2018 (May 20)
BACKGROUND: Emerging evidence suggests that children with fragile X syndrome (FXS) exhibit abnormal gesture use early in development, although few studies have investigated the emergence of gesture use in this population or the impact of autism spectrum disorder (ASD) features on these behaviours. The present study examined the longitudinal development of gesture use in infants with FXS relative to low-risk controls and infant siblings of children with ASD (high-risk siblings), with the goal of establishing potentially unique patterns of gesture development in infants with FXS and understanding the relative impact of ASD symptom severity on these patterns. METHOD: Participants included 86 male infants (39 FXS, 27 high-risk siblings and 20 low-risk infants) assessed at 9, 12 and 24 months of age. Multilevel modelling was used to assess differences in number of gestures used and rates of gesture use across groups, as well as the relative impact of ASD symptom severity and nonverbal skills on these patterns. RESULTS: Infants with FXS used fewer gestures than high-risk siblings and low-risk infants, with this difference being primarily accounted for by the effect of low nonverbal abilities in the FXS group. Furthermore, although higher ASD symptom severity was associated with the use of fewer gestures in both the FXS and high-risk sibling groups, a significant amount of variance was shared between ASD symptom severity and nonverbal skills in FXS, but not in high-risk siblings. CONCLUSIONS: This study presents the first longitudinal analysis of early gesture development in FXS by using a multigroup design, clarifying the relative roles of cognitive deficits and ASD symptom severity in the development of gesture use in FXS. These findings offer novel evidence that early gesture use in FXS may reflect broader features of the FXS phenotype rather than predicting later social-communicative deficits characteristic of comorbid ASD.
Lien vers le texte intégral (Open Access ou abonnement)
7. Yorke I, White P, Weston A, Rafla M, Charman T, Simonoff E. {{The Association Between Emotional and Behavioral Problems in Children with Autism Spectrum Disorder and Psychological Distress in Their Parents: A Systematic Review and Meta-analysis}}. {J Autism Dev Disord};2018 (May 18)
This review (Prospero Registration Number: CRD42017057915) aimed to systematically identify and summarize existing research on the relationship between additional emotional and behavioral problems (EBP) in children with autism, and parenting stress (PS) and mental health problems (MHP) in their parents. Sixty-seven studies met criteria for inclusion in the review, 61 of which were included in the meta-analysis. Pooled correlation coefficients were in the low to moderate range ([Formula: see text]). Some evidence for moderation by measurement characteristics was found. Narrative review of concurrent adjusted associations showed some evidence for shared relationships with other factors, most notably ASD severity and parent perception of own parenting. Longitudinal studies showed mixed evidence for bidirectional predictive relationships between child EBP and parent psychological distress variables.
Lien vers le texte intégral (Open Access ou abonnement)
8. Zaghlula M, Glaze DG, Enns GM, Potocki L, Schwabe AL, Suter B. {{Current clinical evidence does not support a link between TBL1XR1 and Rett syndrome: Description of one patient with Rett features and a novel mutation in TBL1XR1, and a review of TBL1XR1 phenotypes}}. {Am J Med Genet A};2018 (May 19)
