1. {{Correction: comparison of genomic and epigenomic expression in monozygotic twins discordant for rett syndrome}}. {PLoS One};2014;9(4):e94737.
[This corrects the article DOI: 10.1371/journal.pone.0066729.].
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2. Al-Ayadhi LY, Mostafa GA. {{Serum antinucleosome-specific antibody as a marker of autoimmunity in children with autism}}. {J Neuroinflammation};2014;11(1):69.
BACKGROUND: Increasing evidence of autoimmune phenomena in some individuals with autism could represent the presence of altered or inappropriate immune responses in this disorder. The role of the nucleosome in the induction of antibody response in some autoimmune-mediated tissue damage may provide novel targets for treatment. Due to the paucity of studies investigating the frequency of systemic auto-antibodies in autism, we are the first to investigate the frequency of antinucleosome-specific antibodies in a group of autistic children. METHODS: Serum antinucleosome-specific antibodies were measured by ELISA in 60 autistic children, between the ages of 3 and 12 years, in comparison to 60 healthy children. Autistic severity was assessed using the Childhood Autism Rating Scale (CARS). RESULTS: Autistic children had significantly higher serum antinucleosome-specific antibodies than healthy children (P <0.001). The seropositivity of antinucleosome-specific antibodies was found in 46.7% of autistic children. Autistic children with a family history of autoimmunity (40%) had a significantly higher frequency of serum antinucleosome-specific antibodies (83.3%) than patients without such a history (22.2%, P <0.001). CONCLUSIONS: Serum levels of antinucleosome-specific antibodies were increased in some autistic children. However, these data should be treated with caution until further investigations are performed with a larger subject population to determine whether these antibodies have a role in the induction of autoimmunity in a subgroup of autistic children. The role of immunotherapy in children with autism should be also studied.
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3. Bacon EC, Dufek S, Schreibman L, Stahmer AC, Pierce K, Courchesne E. {{Measuring outcome in an early intervention program for toddlers with autism spectrum disorder: use of a curriculum-based assessment}}. {Autism Res Treat};2014;2014:964704.
Measuring progress of children with autism spectrum disorder (ASD) during intervention programs is a challenge faced by researchers and clinicians. Typically, standardized assessments of child development are used within research settings to measure the effects of early intervention programs. However, the use of standardized assessments is not without limitations, including lack of sensitivity of some assessments to measure small or slow progress, testing constraints that may affect the child’s performance, and the lack of information provided by the assessments that can be used to guide treatment planning. The utility of a curriculum-based assessment is discussed in comparison to the use of standardized assessments to measure child functioning and progress throughout an early intervention program for toddlers with risk for ASD. Scores derived from the curriculum-based assessment were positively correlated with standardized assessments, captured progress masked by standardized assessments, and early scores were predictive of later outcomes. These results support the use of a curriculum-based assessment as an additional and appropriate method for measuring child progress in an early intervention program. Further benefits of the use of curriculum-based measures for use within community settings are discussed.
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4. Baldwin S, Costley D, Warren A. {{Employment Activities and Experiences of Adults with High-Functioning Autism and Asperger’s Disorder}}. {J Autism Dev Disord};2014 (Apr 9)
There is limited large-scale empirical research into the working lives of adults who have an autism spectrum disorder with no co-occurring intellectual disability. Drawing on data from a national survey, this report describes the employment activities and experiences of 130 adults with Asperger’s Disorder (AD) and high functioning autism (HFA) in Australia. Outcome measures include current occupation; occupational skill level and alignment with educational attainment; type of job contract; hours of work; support received to find work; support received in the workplace; and positive and negative experiences of employment. The findings confirm and expand upon existing evidence that adults with AD and HFA, despite their capacity and willingness to work, face significant disadvantages in the labour market and a lack of understanding and support in employment settings.
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5. Ben-Itzchak E, Watson LR, Zachor DA. {{Cognitive Ability is Associated with Different Outcome Trajectories in Autism Spectrum Disorders}}. {J Autism Dev Disord};2014 (Apr 8)
Variability in clinical expression and in intervention outcome has been described in autism spectrum disorder (ASD). The study examined progress after 1 and 2 years of intervention and compared the impact of baseline cognitive ability on outcome trajectories in 46 children (m = 25.5 months) with ASD. The entire group showed a gradual decrease in autism severity and increase in verbal cognitive scores. Only the low cognitive scores (DQ <70) group significantly improved in fine motor and receptive language scores. Significant gains in adaptive skills were found only for the high cognitive scores (DQ >/=70) group after 2 years of intervention. The entire group progressed with intervention, but only children with higher cognitive levels at baseline transferred their acquired socio-communication skills into daily functioning.
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6. Braun JM, Froehlich T, Kalkbrenner A, Pfeiffer CM, Fazili Z, Yolton K, Lanphear BP. {{Brief Report: Are Autistic-Behaviors in Children Related to Prenatal Vitamin Use and Maternal Whole Blood Folate Concentrations?}}. {J Autism Dev Disord};2014 (Apr 8)
Prenatal multivitamin/folic acid supplement use may reduce the risk of autism spectrum disorders. We investigated whether 2nd trimester prenatal vitamin use and maternal whole blood folate (WBF) concentrations were associated with Social Responsiveness Scale (SRS) scores at 4-5 years of age in a prospective cohort of 209 mother-child pairs. After confounder adjustment, children born to women taking prenatal vitamins weekly/daily (n = 179) had lower odds of clinically elevated SRS scores (odds ratio 0.26; 95 % confidence interval 0.08, 0.89) than those who rarely/never took them (n = 30). WBF concentrations were not associated with SRS scores. The lack of association between WBF and autistic-behaviors may be due to the timing of biomarker measures relative to critical periods of brain development, confounding, or other modifying factors.
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7. Careaga M, Rose D, Tassone F, Berman RF, Hagerman R, Ashwood P. {{Immune Dysregulation as a Cause of Autoinflammation in Fragile X Premutation Carriers: Link between FMRI CGG Repeat Number and Decreased Cytokine Responses}}. {PLoS One};2014;9(4):e94475.
BACKGROUND: Increased rates of autoinflammatory and autoimmune disorders have been observed in female premutation carriers of CGG repeat expansion alleles of between 55-200 repeats in the fragile X mental retardation 1 (FMR1) gene. To determine whether an abnormal immune profile was present at a cellular level that may predispose female carriers to autoinflammatory conditions, we investigated dynamic cytokine production following stimulation of blood cells. In addition, splenocyte responses were examined in an FMR1 CGG knock-in mouse model of the fragile X premutation. METHODS: Human monocyte and peripheral blood leukocytes (PBLs) were isolated from the blood of 36 female FMR1 premutation carriers and 15 age-matched controls. Cells were cultured with media alone, LPS or PHA. In the animal model, splenocytes were isolated from 32 CGG knock-in mice and 32 wild type littermates. Splenocytes were cultured with media alone or LPS or PMA/Ionomycin. Concentrations of cytokines (GM-CSF, IL-1beta, IL-6, IL-10, IL-13, IL-17, IFNgamma, TNFalpha, and MCP-1) were determined from the supernatants of cellular cultures via Luminex multiplex assay. Additionally, phenotypic cellular markers were assessed on cells isolated from human subjects via flow cytometry. RESULTS: We found decreases in cytokine production in human premutation carriers as well as in the FMR1 knock-in mice when compared with controls. Levels of cytokines were found to be associated with CGG repeat length in both human and mouse. Furthermore, T cells from human premutation carriers showed decreases in cell surface markers of activation when compared with controls. CONCLUSIONS: In this study, FMR1 CGG repeat expansions are associated with decreased immune responses and immune dysregulation in both humans and mice. Deficits in immune responses in female premutation carriers may lead to increased susceptibility to autoimmunity and further research is warranted to determine the link between FMR1 CGG repeat lengths and onset of autoinflammatory conditions.
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8. Ferron L, Nieto-Rostro M, Cassidy JS, Dolphin AC. {{Fragile X mental retardation protein controls synaptic vesicle exocytosis by modulating N-type calcium channel density}}. {Nat Commun};2014;5:3628.
Fragile X syndrome (FXS), the most common heritable form of mental retardation, is characterized by synaptic dysfunction. Synaptic transmission depends critically on presynaptic calcium entry via voltage-gated calcium (CaV) channels. Here we show that the functional expression of neuronal N-type CaV channels (CaV2.2) is regulated by fragile X mental retardation protein (FMRP). We find that FMRP knockdown in dorsal root ganglion neurons increases CaV channel density in somata and in presynaptic terminals. We then show that FMRP controls CaV2.2 surface expression by targeting the channels to the proteasome for degradation. The interaction between FMRP and CaV2.2 occurs between the carboxy-terminal domain of FMRP and domains of CaV2.2 known to interact with the neurotransmitter release machinery. Finally, we show that FMRP controls synaptic exocytosis via CaV2.2 channels. Our data indicate that FMRP is a potent regulator of presynaptic activity, and its loss is likely to contribute to synaptic dysfunction in FXS.
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9. Gidley Larson JC, Suchy Y. {{Does Language Guide Behavior in Children with Autism?}}. {J Autism Dev Disord};2014 (Apr 8)
It is unknown if children with high-functioning autism (HFA) employ self-directed speech to guide motor sequencing and motor control, or if they can benefit from using self-directed speech when prompted to do so. Participants performed a three-movement sequence across three conditions: Natural Learning, Task-Congruent Verbalization (TCV), and Task-Incongruent Verbalization (TIV). TIV deleteriously impacted performance in the typically-developing group (n = 22), and not the HFA group (n = 21). TCV improved performance in both groups, but to a greater extent in the HFA group. These findings suggest that children with HFA do not initiate self-directed speech spontaneously, but can use language to guide behavior when prompted to do so.
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10. Gizzonio V, Avanzini P, Fabbri-Destro M, Campi C, Rizzolatti G. {{Cognitive abilities in siblings of children with autism spectrum disorders}}. {Exp Brain Res};2014 (Apr 8)
The aim of the present study was to assess the cognitive profiles of children with autistic spectrum disorder and of their healthy siblings (Siblings). With the term cognitive profile, we indicate the relationship extant among the values of verbal and performance subtests of the Wechsler Intelligence Scale. The conducted statistical analyses indicated that, although siblings showed a normal intelligent quotient and did not differ in this aspect from typically developing group, their cognitive profile was amazingly similar to that of their relatives affected by autism. A k-means clustering analysis on the values of single subtests further confirmed this result, showing a clear separation between typically developing children on the one side, and autistics and their siblings on the other. We suggest that the common cognitive profile observed in autistic children and their siblings could represent a marker of liability to autism and, thus, a possible intermediate phenotype of this syndrome.
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11. Goh S, Dong Z, Zhang Y, Dimauro S, Peterson BS. {{Mitochondrial Dysfunction as a Neurobiological Subtype of Autism Spectrum Disorder: Evidence From Brain Imaging}}. {JAMA Psychiatry};2014 (Apr 9)
IMPORTANCE Impaired mitochondrial function impacts many biological processes that depend heavily on energy and metabolism and can lead to a wide range of neurodevelopmental disorders, including autism spectrum disorder (ASD). Although evidence that mitochondrial dysfunction is a biological subtype of ASD has grown in recent years, no study, to our knowledge, has demonstrated evidence of mitochondrial dysfunction in brain tissue in vivo in a large, well-defined sample of individuals with ASD. OBJECTIVES To assess brain lactate in individuals with ASD and typically developing controls using high-resolution, multiplanar spectroscopic imaging; to map the distribution of lactate in the brains of individuals with ASD; and to assess correlations of elevated brain lactate with age, autism subtype, and intellectual ability. DESIGN, SETTING, AND PARTICIPANTS Case-control study at Columbia University Medical Center and New York State Psychiatric Institute involving 75 children and adults with ASD and 96 age- and sex-matched, typically developing controls. MAIN OUTCOMES AND MEASURES Lactate doublets (present or absent) on brain magnetic resonance spectroscopic imaging. RESULTS Lactate doublets were present at a significantly higher rate in participants with ASD (13%) than controls (1%) (P = .001). In the ASD group, the presence of lactate doublets correlated significantly with age (P = .004) and was detected more often in adults (20%) than in children (6%), though it did not correlate with sex, ASD subtype, intellectual ability, or the Autism Diagnostic Observation Schedule total score or subscores. In those with ASD, lactate was detected most frequently within the cingulate gyrus but it was also present in the subcortical gray matter nuclei, corpus callosum, superior temporal gyrus, and pre- and postcentral gyri. CONCLUSIONS AND RELEVANCE In vivo brain findings provide evidence for a possible neurobiological subtype of mitochondrial dysfunction in ASD.
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12. Halepoto DM, Bashir S, Al-Ayadhi L. {{Possible role of brain-derived neurotrophic factor (BDNF) in autism spectrum disorder: current status}}. {J Coll Physicians Surg Pak};2014 (Apr);24(4):274-278.
Brain-derived neurotrophic factor (BDNF), a member of the neurotrophin family of survival-promoting molecules, plays a vital role in the growth, development, maintenance, and function of several neuronal systems. The purpose of this review is to document the support for the involvement of this molecule in the maintenance of normal cognitive, emotional functioning, and to outline recent developments in the content of Autism spectrum disorder (ASD). Current and future treatment development can be guided by developing understanding of this molecule’s actions in the brain and the ways the expression of BDNF can be planned. Over the years, research findings suggested a critical role played by BDNF in the development of autism including increased serum concentrations of BDNF in children with autism and identification of different forms of BDNF in families of autistic individuals.
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13. Hanaie R, Mohri I, Kagitani-Shimono K, Tachibana M, Matsuzaki J, Watanabe Y, Fujita N, Taniike M. {{Abnormal Corpus Callosum Connectivity, Socio-communicative Deficits, and Motor Deficits in Children with Autism Spectrum Disorder: A Diffusion Tensor Imaging Study}}. {J Autism Dev Disord};2014 (Mar 25)
In addition to social and communicative deficits, many studies have reported motor deficits in autism spectrum disorder (ASD). This study investigated the macro and microstructural properties of the corpus callosum (CC) of 18 children with ASD and 12 typically developing controls using diffusion tensor imaging tractography. We aimed to explore whether abnormalities of the CC were related to motor deficits, as well as social and communication deficits in children with ASD. The ASD group displayed abnormal macro and microstructure of the total CC and its subdivisions and its structural properties were related to socio-communicative deficits, but not to motor deficits in ASD. These findings advance our understanding of the contributions of the CC to ASD symptoms.
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14. Jones B. {{Human genetics: Autism – clues from brains and protein domains}}. {Nat Rev Genet};2014 (Apr 8)
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15. Keri S. {{Social influence on associative learning: Double dissociation in high-functioning autism, early-stage behavioural variant frontotemporal dementia and Alzheimer’s disease}}. {Cortex};2014 (Mar 3);54C:200-209.
INTRODUCTION: Most of our learning activity takes place in a social context. I examined how social interactions influence associative learning in neurodegenerative diseases and atypical neurodevelopmental conditions primarily characterised by social cognitive and memory dysfunctions. METHODS: Participants were individuals with high-functioning autism (HFA, n = 18), early-stage behavioural variant frontotemporal dementia (bvFTD, n = 16) and Alzheimer’s disease (AD, n = 20). The leading symptoms in HFA and bvFTD were social and behavioural dysfunctions, whereas AD was characterised by memory deficits. Participants received three versions of a paired associates learning task. In the game with boxes test, objects were hidden in six candy boxes placed in different locations on the computer screen. In the game with faces, each box was labelled by a photo of a person. In the real-life version of the game, participants played with real persons. RESULTS: Individuals with HFA and bvFTD performed well in the computer games, but failed on the task including real persons. In contrast, in patients with early-stage AD, social interactions boosted paired associates learning up to the level of healthy control volunteers. Worse performance in the real life game was associated with less successful recognition of complex emotions and mental states in the Reading the Mind in the Eyes Test. Spatial span did not affect the results. CONCLUSIONS: When social cognition is impaired, but memory systems are less compromised (HFA and bvFTD), real-life interactions disrupt associative learning; when disease process impairs memory systems but social cognition is relatively intact (early-stage AD), social interactions have a beneficial effect on learning and memory.
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16. Kikuchi M, Yoshimura Y, Hiraishi H, Munesue T, Hashimoto T, Tsubokawa T, Takahashi T, Suzuki M, Higashida H, Minabe Y. {{Reduced long-range functional connectivity in young children with autism spectrum disorder}}. {Soc Cogn Affect Neurosci};2014 (Apr 9)
Autism spectrum disorder (ASD) is often described as a disorder of aberrant neural connectivity. Although it is important to study the pathophysiology of ASD in the developing cortex, the functional connectivity in the brains of young children with ASD has not been well studied. In this study, brain activity was measured non-invasively during consciousness in 50 young human children with ASD and 50 age- and gender-matched typically developing human (TD) children. We employed a custom child-sized magnetoencephalography (MEG) system in which sensors were located as close to the brain as possible for optimal recording in young children. We focused on theta band oscillations because they are thought to be involved in long-range networks associated with higher cognitive processes. The ASD group showed significantly reduced connectivity between the left-anterior and the right-posterior areas, exhibiting a decrease in the coherence of theta band (6 Hz) oscillations compared with the TD group. This reduction in coherence was significantly correlated with clinical severity in right-handed children with ASD. This is the first study to demonstrate reduced long-range functional connectivity in conscious young children with ASD using a novel MEG approach.
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17. Koch L. {{Rett syndrome scientist honoured}}. {Nat Rev Genet};2014 (Apr 8)
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18. Laugeson EA, Ellingsen R, Sanderson J, Tucci L, Bates S. {{The ABC’s of Teaching Social Skills to Adolescents with Autism Spectrum Disorder in the Classroom: The UCLA PEERS Program}}. {J Autism Dev Disord};2014 (Apr 9)
Social skills training is a common treatment method for adolescents with autism spectrum disorder (ASD), yet very few evidence-based interventions exist to improve social skills for high-functioning adolescents on the spectrum, and even fewer studies have examined the effectiveness of teaching social skills in the classroom. This study examines change in social functioning for adolescents with high-functioning ASD following the implementation of a school-based, teacher-facilitated social skills intervention known as Program for the Education and Enrichment of Relational Skills (PEERS (R) ). Seventy-three middle school students with ASD along with their parents and teachers participated in the study. Participants were assigned to the PEERS (R) treatment condition or an alternative social skills curriculum. Instruction was provided daily by classroom teachers and teacher aides for 14-weeks. Results reveal that in comparison to an active treatment control group, participants in the PEERS (R) treatment group significantly improved in social functioning in the areas of teacher-reported social responsiveness, social communication, social motivation, social awareness, and decreased autistic mannerisms, with a trend toward improved social cognition on the Social Responsiveness Scale. Adolescent self-reports indicate significant improvement in social skills knowledge and frequency of hosted and invited get-togethers with friends, and parent-reports suggest a decrease in teen social anxiety on the Social Anxiety Scale at a trend level. This research represents one of the few teacher-facilitated treatment intervention studies demonstrating effectiveness in improving the social skills of adolescents with ASD in the classroom: arguably the most natural social setting of all.
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19. Pohl A, Cassidy S, Auyeung B, Baron-Cohen S. {{Uncovering steroidopathy in women with autism: a latent class analysis}}. {Mol Autism};2014 (Apr 9);5(1):27.
BACKGROUND: Prenatal exposure to increased androgens has been implicated in both polycystic ovary syndrome (PCOS) and autism spectrum conditions (ASC), suggesting that PCOS may be increased among women with ASC. One study suggested elevated steroidopathic symptoms (‘steroidopathy’) in women with ASC. As the symptoms are not independent, we conducted a latent class analysis (LCA). The objectives of the current study are: (1) to test if these findings replicate in a larger sample; and (2) to use LCA to uncover affected clusters of women with ASC. METHODS: We tested two groups of women, screened using the Autism Spectrum Quotient – Group 1: n = 415 women with ASC (mean age 36.39 +/- 11.98 years); and Group 2: n = 415 controls (mean age 39.96 +/- 11.92 years). All participants completed the Testosterone-related Medical Questionnaire online. A multiple-group LCA was used to identify differences in latent class structure between women with ASC and controls. RESULTS: There were significant differences in frequency of steroid-related conditions and symptoms between women with ASC and controls. A two-class semi-constrained model best fit the data. Based on response patterns, we identified the classes as ‘Typical’ and ‘Steroidopathic’. The prevalence of the ‘Steroidopathic’ class was significantly increased within the ASC group (DeltaG2 = 15, df =1, P = 0.0001). In particular, we confirmed higher frequencies of epilepsy, amenorrhea, dysmenorrhea, severe acne, gender dysphoria, and transsexualism, and differences in sexual preference in women with ASC. CONCLUSIONS: Women with ASC are at increased risk for symptoms and conditions linked to steroids. LCA revealed this steroidopathy despite the apparent underdiagnosis of PCOS.
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20. Srivastava AK, Schwartz CE. {{Intellectual Disability and Autism Spectrum Disorders: Causal Genes and Molecular Mechanisms}}. {Neurosci Biobehav Rev};2014 (Apr 4)
Intellectual disability (ID) and Autism Spectrum disorder (ASD) are the most common developmental disorders present in humans. Combined, they affect between 3-5% of the population. Additionally, they can be found together in the same individual thereby complicating treatment. The causative factors (genes, epigenetic and environmental) are quite varied and likely interact so as to further complicate the assessment of an individual patient. Nonetheless, much valuable information has been gained by identifying candidate genes for ID or ASD. Understanding the etiology of either ID or ASD is of utmost importance for families. It allows a determination of the risk of recurrence, the possibility of other comorbidity medical problems, the molecular and cellular nature of the pathobiology and hopefully potential therapeutic approaches.
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21. Srivastava S, Landy-Schmitt C, Clark B, Kline AD, Specht M, Grados MA. {{Autism traits in children and adolescents with Cornelia de Lange syndrome}}. {Am J Med Genet A};2014 (Apr 9)
Cornelia de Lange syndrome (CdLS) is a cohesinopathy causing delayed growth and limb deficits. Individuals with CdLS have mild to profound intellectual disability and autistic features. This study characterizes the behavioral phenotype of children with CdLS, focusing on autistic features, maladaptive behaviors, and impact of age. Children with CdLS (5-18 years) were administered normed instruments to characterize autism features (Childhood Autism Rating Scale, CARS), maladaptive behaviors (Aberrant Behavior Checklist), and adaptive skills (Vineland Adaptive Behaviors Scales). CdLS features and severity were rated with Diagnostic Criteria for CdLS. Forty-one children with CdLS (23 females, 18 males) were classified as having « no autism » (n = 7; 17.1%), « mild autism » (n = 17; 41.4%), and « severe autism » (n = 17; 41.4%), using CARS scores. Characteristic items were abnormal emotional response, stereotypies, odd object use, rigidity, lack of verbal communication, and low intellectual functioning. Verbal communication deficits and repetitive behaviors were higher compared to sensory, social cognition, and behavior abnormalities (P </= 0.0001). Maladaptive behaviors associated with autism traits were stereotypies (P = 0.003), hyperactivity (P = 0.01), and lethargy (P = 0.03). Activities of daily living were significantly affected; socialization adaptive skills were a relative strength. However, with advancing age, both socialization (P < 0.0001) and communication (P = 0.001) domains declined significantly. CdLS is characterized by autistic features, notably excessive repetitive behaviors and expressive language deficits. While other adaptive skills are impacted, socialization adaptive skills are less affected. Advancing age can worsen communication and socialization deficits relative to neurotypical peers. (c) 2014 Wiley Periodicals, Inc.
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22. Suren P, Gunnes N, Roth C, Bresnahan M, Hornig M, Hirtz D, Lie KK, Lipkin WI, Magnus P, Reichborn-Kjennerud T, Schjolberg S, Susser E, Oyen AS, Smith GD, Stoltenberg C. {{Parental Obesity and Risk of Autism Spectrum Disorder}}. {Pediatrics};2014 (Apr 7)
OBJECTIVES: The objective of the study was to investigate the associations among maternal prepregnancy BMI, paternal BMI, and the risk of autism spectrum disorders (ASDs) in children. METHODS: The study sample of 92 909 children was derived from the population-based, prospective Norwegian Mother and Child Cohort Study. The age range was 4.0 through 13.1 (mean 7.4) years. Relative risks of ASDs were estimated by odds ratios (ORs) and 95% confidence intervals (CIs) from logistic regression models. RESULTS: At the end of follow-up on December 31, 2012, 419 children in the study sample had been diagnosed with ASDs: 162 with autistic disorder, 103 with Asperger disorder, and 154 with pervasive developmental disorder not otherwise specified. Maternal obesity (BMI >/=30) was only weakly associated with ASD risk, whereas paternal obesity was associated with an increased risk of autistic disorder and Asperger disorder. The risk of autistic disorder was 0.27% (25 of 9267) in children of obese fathers and 0.14% (59 of 41 603) in children of fathers with normal weight (BMI <25), generating an adjusted OR of 1.73 (95% CI: 1.07-2.82). For Asperger disorder, analyses were limited to children aged >/=7 years (n = 50 116). The risk was 0.38% (18 of 4761) in children of obese fathers and 0.18% (42 of 22 736) in children of normal-weight fathers, and the adjusted OR was 2.01 (95% CI: 1.13-3.57). No associations were found for pervasive developmental disorder not otherwise specified. CONCLUSIONS: Paternal obesity is an independent risk factor for ASDs in children. The associations should be investigated further in genetic and epigenetic studies.
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23. Warreyn P, Van der Paelt S, Roeyers H. {{Social-communicative abilities as treatment goals for preschool children with autism spectrum disorder: the importance of imitation, joint attention, and play}}. {Dev Med Child Neurol};2014 (Apr 9)
Autism spectrum disorder (ASD) is a pervasive developmental disorder with a lifelong impact on multiple domains of functioning. Often, a diagnosis is possible by 3 years of age. Given the benefits of early intervention, it is advisable to start treatment as soon as possible after the diagnosis has been made. Among other factors, early intervention should focus on social-communicative abilities such as imitation, joint attention, and play. In this review, the typical developmental course and functions of these social-communicative abilities are described, and the problems young children with ASD experience in this domain. In addition, different approaches to promoting these abilities are explained. The authors recommend the inclusion of imitation, joint attention, and play as treatment goals in community settings for children with ASD.
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24. Wohr M. {{Ultrasonic Vocalizations in Shank Mouse Models for Autism Spectrum Disorders: Detailed Spectrographic Analyses and Developmental Profiles}}. {Neurosci Biobehav Rev};2014 (Apr 9)
Autism spectrum disorders (ASD) are a class of neurodevelopmental disorders characterized by persistent deficits in social behavior and communication across multiple contexts, together with repetitive patterns of behavior, interests, or activities. The high concordance rate between monozygotic twins supports a strong genetic component. Among the most promising candidate genes for ASD is the SHANK gene family, including SHANK1, SHANK2 (ProSAP1), and SHANK3 (ProSAP2). SHANK genes are therefore important candidates for modeling ASD in mice and various genetic models were generated within the last few years. As the diagnostic criteria for ASD are purely behaviorally defined, the validity of mouse models for ASD strongly depends on their behavioral phenotype. Behavioral phenotyping is therefore a key component of the current translational approach and requires sensitive behavioral test paradigms with high relevance to each diagnostic symptom category. While behavioral phenotyping assays for social deficits and repetitive patterns of behavior, interests, or activities are well-established, the development of sensitive behavioral test paradigms to assess communication deficits in mice is a daunting challenge. Measuring ultrasonic vocalizations (USV) appears to be a promising strategy. In the first part of the review, an overview on the different types of mouse USV and their communicative function will be provided. The second part is devoted to studies on the emission of USV in Shank mouse models for ASD. Evidence for communication deficits was obtained in Shank1, Shank2, and Shank3 genetic mouse models for ASD, often paralleled by behavioral phenotypes relevant to social deficits seen in ASD.
