1. {{Early signs of autism may be detectable in six-month-old babies}}. {Nurs Stand};2012 (Feb 29);26(26):14.
There are no reliable predictors of autism in infancy, but characteristic behaviours begin to be noticeable from the age of two, the earliest age at which a firm diagnosis is made.
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2. {{About Me (autism passport)}}. {Nurs Stand};2017 (Jan 18);31(21):32.
This app can improve information sharing for children and young people with a diagnosis of autism, or those undergoing an autism assessment.
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3. Al-Jawahiri R, Milne E. {{Resources available for autism research in the big data era: a systematic review}}. {PeerJ};2017;5:e2880.
Recently, there has been a move encouraged by many stakeholders towards generating big, open data in many areas of research. One area where big, open data is particularly valuable is in research relating to complex heterogeneous disorders such as Autism Spectrum Disorder (ASD). The inconsistencies of findings and the great heterogeneity of ASD necessitate the use of big and open data to tackle important challenges such as understanding and defining the heterogeneity and potential subtypes of ASD. To this end, a number of initiatives have been established that aim to develop big and/or open data resources for autism research. In order to provide a useful data reference for autism researchers, a systematic search for ASD data resources was conducted using the Scopus database, the Google search engine, and the pages on ‘recommended repositories’ by key journals, and the findings were translated into a comprehensive list focused on ASD data. The aim of this review is to systematically search for all available ASD data resources providing the following data types: phenotypic, neuroimaging, human brain connectivity matrices, human brain statistical maps, biospecimens, and ASD participant recruitment. A total of 33 resources were found containing different types of data from varying numbers of participants. Description of the data available from each data resource, and links to each resource is provided. Moreover, key implications are addressed and underrepresented areas of data are identified.
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4. Bjorklund G, Saad K, Chirumbolo S, Kern JK, Geier DA, Geier MR, Urbina MA. {{Immune dysfunction and neuroinflammation in autism spectrum disorder}}. {Acta Neurobiol Exp (Wars)};2016;76(4):257-268.
Autism spectrum disorder (ASD) is a complex heterogeneous neurodevelopmental disorder with a complex pathogenesis. Many studies over the last four decades have recognized altered immune responses among individuals diagnosed with ASD. The purpose of this critical and comprehensive review is to examine the hypothesis that immune dysfunction is present more frequently, and it is related to ASD in humans. It was found that that often individuals diagnosed with ASD have alterations in immune cells such as T cells, B cells, monocytes, natural killer cells, and dendritic cells. Also, many individuals diagnosed with ASD have alterations in immunoglobulins and increased autoantibodies. Finally, an important portion of individuals diagnosed with ASD has elevated peripheral cytokines and chemokines and associated neuroinflammation. In conclusion, immune dysregulation and inflammation are important components of ASD diagnosis and are key components of the diagnosis and treatment of ASD.
5. Chan W, Smith LE, Greenberg JS, Hong J, Mailick MR. {{Executive Functioning Mediates the Effect of Behavioral Problems on Depression in Mothers of Children With Developmental Disabilities}}. {Am J Intellect Dev Disabil};2017 (Jan);122(1):11-24.
The present investigation explored long-term relationships of behavioral symptoms of adolescents and adults with developmental disabilities with the mental health of their mothers. Fragile X premutation carrier mothers of an adolescent or adult child with fragile X syndrome (n = 95), and mothers of a grown child with autism (n = 213) were included. Behavioral symptoms at Time 1 were hypothesized to predict maternal depressive symptoms at Time 3 via maternal executive dysfunction at Time 2. Results provided support for the mediating pathway of executive dysfunction. Additionally, the association of behavioral symptoms with executive dysfunction differed across the two groups, suggesting that premutation carriers may be more susceptible to caregiving stress due to their genotype.
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6. Conti E, Mitra J, Calderoni S, Pannek K, Shen KK, Pagnozzi A, Rose S, Mazzotti S, Scelfo D, Tosetti M, Muratori F, Cioni G, Guzzetta A. {{Network over-connectivity differentiates autism spectrum disorder from other developmental disorders in toddlers: A diffusion MRI study}}. {Hum Brain Mapp};2017 (Jan 17)
Advanced connectivity studies in toddlers with Autism Spectrum Disorder (ASD) are increasing and consistently reporting a disruption of brain connectivity. However, most of these studies compare ASD and typically developing subjects, thus providing little information on the specificity of the abnormalities detected in comparison with other developmental disorders (other-DD). We recruited subjects aged below 36 months who received a clinical diagnosis of Neurodevelopmental Disorder (32 ASD and 16 other-DD including intellectual disability and language disorder) according to DSM-IV TR. Structural and diffusion MRI were acquired to perform whole brain probabilistic and anatomically constrained tractography. Network connectivity matrices were built encoding the number of streamlines (DNUM ) and the tract-averaged fractional anisotropy (DFA ) values connecting each pair of cortical and subcortical regions. Network Based Statistics (NBS) was finally applied on the connectivity matrices to evaluate the network differences between the ASD and other-DD groups. The network differences resulted in an over-connectivity pattern (i.e., higher DNUM and DFA values) in the ASD group with a significance of P < 0.05. No contra-comparison results were found. The over-connectivity pattern in ASD occurred in networks primarily involving the fronto-temporal nodes, known to be crucial for social-skill development and basal ganglia, related to restricted and repetitive behaviours in ASD. To our knowledge, this is the first network-based diffusion study comparing toddlers with ASD and those with other-DD. Results indicate the detection of different connectivity patterns in ASD and other-DD at an age when clinical differential diagnosis is often challenging. Hum Brain Mapp, 2017. (c) 2017 Wiley Periodicals, Inc. Lien vers le texte intégral (Open Access ou abonnement)
7. Drmic IE, Aljunied M, Reaven J. {{Feasibility, Acceptability and Preliminary Treatment Outcomes in a School-Based CBT Intervention Program for Adolescents with ASD and Anxiety in Singapore}}. {J Autism Dev Disord};2017 (Jan 18)
Adolescents with autism spectrum disorder (ASD) are at high risk for anxiety difficulties and disorders. Clinic-based cognitive behavioral therapy (CBT) is effective; however, few published school-based CBT programs for youth with ASD exist. In this study, the Facing Your Fears CBT protocol was adapted for delivery and piloted within a school setting by non-clinicians, with culturally appropriate adaptations. 44 13-15 aged youth with ASD from 22 mainstream schools in Singapore participated. Feasibility, acceptability and preliminary treatment outcomes were examined. Decreases in youth and parent reported anxiety symptoms were reported. Staff and parents found the program useful. Stakeholder support was important for implementation. Initial findings reflect the importance of carefully bridging research-to-practice for youth with ASD and anxiety.
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8. Frost KM, Hong N, Lord C. {{Correlates of Adaptive Functioning in Minimally Verbal Children With Autism Spectrum Disorder}}. {Am J Intellect Dev Disabil};2017 (Jan);122(1):1-10.
Individuals with autism spectrum disorder (ASD) tend to have significant delays in adaptive functioning. In this study, the relationship between adaptive behavior and ASD symptomatology was investigated in minimally verbal, school-aged children with ASD (n = 333). Both the social affect (SA) and restricted and repetitive behavior (RRB) domains from the Autism Diagnostic Observation Schedule (ADOS) were analyzed in relation to adaptive skills. ADOS SA scores contributed unique variance to scores in each Vineland domain, though cognitive ability and age accounted for considerably more variance across domains. Results indicate that there is a significant, but small, association between social affect deficits and adaptive skills, challenging clinicians, educators, and caregivers to target adaptive skills in addition to more specific features of ASD.
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9. Getahun D, Fassett MJ, Peltier MR, Wing DA, Xiang AH, Chiu V, Jacobsen SJ. {{Association of Perinatal Risk Factors with Autism Spectrum Disorder}}. {Am J Perinatol};2017 (Jan 18)
Objective To examine the association between exposures to perinatal factors and autism spectrum disorders (ASD). Study Design A retrospective cohort study of ASD among children born in Kaiser Permanente Southern California hospitals between 1991 and 2009 (n = 594,638). Medical records were used to determine exposure to perinatal (antepartum and intrapartum) complications. ASD was diagnosed using DSM-IV criteria. Multivariable Cox regression was used to estimate hazard ratios (HRs). Result Children with ASD were more likely to be exposed to perinatal complications (HR = 1.15, 95% confidence interval [CI]: 1.09-1.21) than neurotypical children. Children exposed to antepartum (HR = 1.22, 95% CI: 1.10-1.36) and intrapartum (HR = 1.10, 95% CI: 1.04-1.17) complications were at increased risk of ASD. The risk was even greater when both antepartum and intrapartum conditions were present (HR = 1.44, 95% CI: 1.26-1.63). Conclusion Exposure to antepartum or intrapartum complications increases the risk of ASD in the offspring. Therefore, pregnancy complications may help identify children who could benefit from early screening and intervention for this common neurodevelopmental condition.
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10. Haghiri R, Mashayekhi F, Bidabadi E, Salehi Z. {{Analysis of methionine synthase (rs1805087) gene polymorphism in autism patients in Northern Iran}}. {Acta Neurobiol Exp (Wars)};2016;76(4):318-323.
Autism is characterized by impairment in reciprocal communication and speech, repetitive behaviors, and social communication. The genetic and environmental factors play roles in the pathogenesis of autism. It was recently shown that the genes involved in the folate/homocysteine pathway may be risk factors for autistic children. One of the genes that may be the risk factor for autism is Methionine synthase (MTR). MTR is responsible for the regeneration of methionine from homocysteine. The aim of this study was to analyze the association of MTR A2756G gene polymorphism (rs1805087) and the risk of autism in a population in northern Iran. The prevalence of MTR A2756G polymorphism was determined in 108 children with autism and 130 controls in northern Iran. Genotypes and allele frequencies were determined in patients and controls by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP). The prevalence of genotype frequencies of AA, AG and GG in autistic children were 57.41%, 22.22% and 20.37%, respectively, while in controls were 61.54%, 32.31% and 6.15%, respectively. There was significant difference between the MTR polymorphism distribution in control and patient groups. The prevalence of allele frequencies of A and G in autistic children were 0.69 and 0.31, respectively and in controls were 0.78 and 0.22, respectively (P=0.03). The MTR G allele conferred a 1.6-fold increased risk to autism relative to the A allele (95% CI=1.06-2.41, P=0.02). The present study suggests that the G allele of MTR A2756G polymorphism is associated with an increased risk of autism.
11. Lee M, Martin GE, Hogan A, Hano D, Gordon PC, Losh M. {{What’s the story? A computational analysis of narrative competence in autism}}. {Autism};2017 (Jan 01):1362361316677957.
Individuals with autism spectrum disorder demonstrate narrative (i.e. storytelling) difficulties which can significantly impact their ability to form and maintain social relationships. However, existing research has not comprehensively documented these impairments in more open-ended, emotionally evocative situations common to daily interactions. Computational linguistic measures offer a promising complement to traditional hand-coding methods of narrative analysis and in this study were applied together with hand coding of narratives elicited with emotionally salient scenes from the Thematic Apperception Test. In total, 19 individuals with autism spectrum disorder and 14 typically developing controls were asked to tell stories about six images from the Thematic Apperception Test. Both structural and qualitative aspects of narrative were assessed using a hand-coding system and Latent Semantic Analysis, an automated computational measure of semantic similarity. Individuals with autism spectrum disorder demonstrated significant difficulties with the use of complex syntax to integrate their narratives and problems explaining characters’ intentions. These and other key narrative skills were strongly related to narrative competence scores derived from Latent Semantic Analysis, which also distinguished the autism spectrum disorder group from controls. Together, results underscore key narrative impairments in autism spectrum disorder and support the promise of Latent Semantic Analysis as a valuable tool for the quantitative assessment of complex language abilities.
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12. Sellier C, Buijsen RA, He F, Natla S, Jung L, Tropel P, Gaucherot A, Jacobs H, Meziane H, Vincent A, Champy MF, Sorg T, Pavlovic G, Wattenhofer-Donze M, Birling MC, Oulad-Abdelghani M, Eberling P, Ruffenach F, Joint M, Anheim M, Martinez-Cerdeno V, Tassone F, Willemsen R, Hukema RK, Viville S, Martinat C, Todd PK, Charlet-Berguerand N. {{Translation of Expanded CGG Repeats into FMRpolyG Is Pathogenic and May Contribute to Fragile X Tremor Ataxia Syndrome}}. {Neuron};2017 (Jan 18);93(2):331-347.
Fragile X-associated tremor/ataxia syndrome (FXTAS) is a neurodegenerative disorder caused by a limited expansion of CGG repeats in the 5′ UTR of FMR1. Two mechanisms are proposed to cause FXTAS: RNA gain-of-function, where CGG RNA sequesters specific proteins, and translation of CGG repeats into a polyglycine-containing protein, FMRpolyG. Here we developed transgenic mice expressing CGG repeat RNA with or without FMRpolyG. Expression of FMRpolyG is pathogenic, while the sole expression of CGG RNA is not. FMRpolyG interacts with the nuclear lamina protein LAP2beta and disorganizes the nuclear lamina architecture in neurons differentiated from FXTAS iPS cells. Finally, expression of LAP2beta rescues neuronal death induced by FMRpolyG. Overall, these results suggest that translation of expanded CGG repeats into FMRpolyG alters nuclear lamina architecture and drives pathogenesis in FXTAS.
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13. Shivers CM, Dykens EM. {{Adolescent Siblings of Individuals With and Without Intellectual and Developmental Disabilities: Self-Reported Empathy and Feelings About Their Brothers and Sisters}}. {Am J Intellect Dev Disabil};2017 (Jan);122(1):62-77.
Siblings of brothers or sisters with intellectual and developmental disabilities (IDD) are important but understudied family members. As many previous studies have relied on parent report of sibling outcomes, the use of sibling self-report is an important addition to the research. This study assessed the feelings of adolescent siblings toward their brothers or sisters with and without IDD, as well as broader aspects of sibling empathy. Data were collected via a national, online survey from 97 parent-sibling pairs. Siblings of individuals with IDD reported higher levels of anxiety toward the target child than did siblings of typically developing individuals. Sibling feelings toward the target child were related to both parental and target child factors, but only among families of individuals with IDD.
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14. Webb SJ, Jones EJ. {{Early Identification of Autism: Early Characteristics, Onset of Symptoms, and Diagnostic Stability}}. {Infants Young Child};2009 (Apr-Jun);22(2):100-118.
In the first year of life, infants who later go on to develop autistic spectrum disorders (ASD) may exhibit subtle disruptions in social interest and attention, communication, temperament, and head circumference growth that occur prior to the onset of clinical symptoms. These disruptions may reflect the early course of ASD development and may also contribute to the later development of clinical symptoms through alterations in the child’s experience of his or her environment. By age 2, developmental precursors of autism symptoms can be used to diagnose children reliably, and by age 3, the diagnosis is thought to be relatively stable. The downward extension of the autism diagnosis poses important questions for therapists in designing interventions that are applicable for infants who demonstrate early risk factors. We review current knowledge of the early signs of ASD in the infancy period (0-12 months) and the manifestation of symptoms in toddlerhood (12- 36 months), noting the importance of considering the variability in onset and trajectory of ASD. Finally, we consider the implications of this emerging research for those who work or interact with young children, including the importance of early monitoring and the development and evaluation of age-appropriate interventions.
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15. Zablotsky B, Colpe LJ, Pringle BA, Kogan MD, Rice C, Blumberg SJ. {{Age of Parental Concern, Diagnosis, and Service Initiation Among Children With Autism Spectrum Disorder}}. {Am J Intellect Dev Disabil};2017 (Jan);122(1):49-61.
Children with autism spectrum disorder (ASD) require substantial support to address the core symptoms of ASD and co-occurring behavioral/developmental conditions. This study explores the early diagnostic experiences of school-aged children with ASD using survey data from a large probability-based national sample. Multivariate linear regressions were used to examine age when parent reported developmental concern to doctor, received ASD diagnosis, and first obtained services. Children whose parents had concerns about their child’s verbal communication reported earlier ages for all outcomes when compared to children of parents who did not have verbal communication concerns. Children whose parents had concerns about their child’s nonverbal communication or unusual gestures/movements received an earlier diagnosis than children whose parents did not have these specific concerns.
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16. Zhou H, Wu W, Zhang Y, He H, Yuan Z, Zhu Z, Zhao Z. {{Selective preservation of cholinergic MeCP2 rescues specific Rett-syndrome-like phenotypes in MeCP2stop mice}}. {Behav Brain Res};2017 (Jan 16);322(Pt A):51-59.
RTT is a neurodevelopmental disorder characterized by growth regression, motor dysfunction, stereotypic hand movements, and autism features. Typical Rett syndrome (RTT) is predominantly caused by mutations in X-linked MeCP2 gene which encodes methyl-CpG-binding protein 2 (MeCP2). The brain-abundant MeCP2 protein mainly functions as a transcriptional regulator for neurodevelopment-associated genes. Specific functions of MeCP2 in certain neuron types remain to be known. Although cholinergic system is an important modulating system in brain, how MeCP2 in cholinergic neurons contribute to RTT has not been clearly understood. Here we use a mouse model with selectively activated endogenous MeCP2 in cholinergic neurons in otherwise MeCP2stop mice to determine the cholinergic MeCP2 effects on rescuing the RTT-like phenotypes. We found cholinergic MeCP2 preservation could reverse some aspects of the RTT-like phenotypes in mice including hypolocomotion and increased anxiety level, and delay the onset of underweight, instead of improving the hypersocial abnormality and the poor general conditions such as short lifespan, low brain weight, and increasing severity score. Our findings suggest that selective activation of cholinergic MeCP2 is sufficient to reverse the locomotor impairment and increased anxiety-like behaviors at least in early symptomatic stage, supporting future development of RTT therapies associated with cholinergic system.
