1. Anderson GR, Galfin T, Xu W, Aoto J, Malenka RC, Sudhof TC. {{Candidate autism gene screen identifies critical role for cell-adhesion molecule CASPR2 in dendritic arborization and spine development}}. {Proc Natl Acad Sci U S A};2012 (Oct 16)
Mutations in the contactin-associated protein 2 (CNTNAP2) gene encoding CASPR2, a neurexin-related cell-adhesion molecule, predispose to autism, but the function of CASPR2 in neural circuit assembly remains largely unknown. In a knockdown survey of autism candidate genes, we found that CASPR2 is required for normal development of neural networks. RNAi-mediated knockdown of CASPR2 produced a cell-autonomous decrease in dendritic arborization and spine development in pyramidal neurons, leading to a global decline in excitatory and inhibitory synapse numbers and a decrease in synaptic transmission without a detectable change in the properties of these synapses. Our data suggest that in addition to the previously described role of CASPR2 in mature neurons, where CASPR2 organizes nodal microdomains of myelinated axons, CASPR2 performs an earlier organizational function in developing neurons that is essential for neural circuit assembly and operates coincident with the time of autism spectrum disorder (ASD) pathogenesis.
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2. Baruffi MR, de Souza DH, Bicudo da Silva RA, Ramos ES, Moretti-Ferreira D. {{Autism spectrum disorder in a girl with a de novo x;19 balanced translocation}}. {Case Rep Genet};2012;2012:578018.
Balanced X-autosome translocations are rare, and female carriers are a clinically heterogeneous group of patients, with phenotypically normal women, history of recurrent miscarriage, gonadal dysfunction, X-linked disorders or congenital abnormalities, and/or developmental delay. We investigated a patient with a de novo X;19 translocation. The six-year-old girl has been evaluated due to hyperactivity, social interaction impairment, stereotypic and repetitive use of language with echolalia, failure to follow parents/caretakers orders, inconsolable outbursts, and persistent preoccupation with parts of objects. The girl has normal cognitive function. Her measurements are within normal range, and no other abnormalities were found during physical, neurological, or dysmorphological examinations. Conventional cytogenetic analysis showed a de novo balanced translocation, with the karyotype 46,X,t(X;19)(p21.2;q13.4). Replication banding showed a clear preference for inactivation of the normal X chromosome. The translocation was confirmed by FISH and Spectral Karyotyping (SKY). Although abnormal phenotypes associated with de novo balanced chromosomal rearrangements may be the result of disruption of a gene at one of the breakpoints, submicroscopic deletion or duplication, or a position effect, X; autosomal translocations are associated with additional unique risk factors including X-linked disorders, functional autosomal monosomy, or functional X chromosome disomy resulting from the complex X-inactivation process.
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3. Chang CL, Lung FW, Yen CF, Yang P. {{Adaptive Behaviors in High-Functioning Taiwanese Children with Autism Spectrum Disorders: an Investigation of the Mediating Roles of Symptom Severity and Cognitive Ability}}. {J Autism Dev Disord};2012 (Oct 17)
We investigated the relationship among cognitive level, autistic severity and adaptive function in a Taiwanese sample of 94 high-functioning children with autism spectrum disorders (ASD) (mean full scale intelligent quotients FSIQ = 84.8). Parents and teachers both completed the Adaptive Behavior Assessment System-II and the Social Responsiveness Scale. Correlational and regression analyses were used to explore the relationships among the constructs of cognitive, symptomatic and adaptive domains. Results revealed that average General Adaptive Composites of these children (home: 74.0; school: 74.6) was below average FSIQ. Profile analysis revealed that Social domain was the weakness among the adaptive abilities assessed at school and home. Cognitive abilities had positive relationship with adaptive function, while autistic severity had a weak negative relationship with adaptive function. Also, the younger the age the child got diagnosed, the less severe the current symptoms of autism were. The implication for emphasizing adaptive skills intervention was discussed.
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4. Joshi G, Wozniak J, Petty C, Martelon MK, Fried R, Bolfek A, Kotte A, Stevens J, Furtak SL, Bourgeois M, Caruso J, Caron A, Biederman J. {{Psychiatric Comorbidity and Functioning in a Clinically Referred Population of Adults with Autism Spectrum Disorders: A Comparative Study}}. {J Autism Dev Disord};2012 (Oct 18)
To systematically examine the patterns of psychiatric comorbidity and functioning in clinically referred adults with autism spectrum disorders (ASD). Psychiatrically referred adults with and without ASD were compared on measures assessing for psychiatric comorbidity and psychosocial functioning. Sixty-three adults with ASD participated in the study (mean age: 29 +/- 11 years). Adults with ASD in their lifetime suffered from a higher burden of psychiatric disorders (6 +/- 3.4 vs. 3.5 +/- 2.7; p < 0.001) including major depressive disorder and multiple anxiety disorders, and were functionally more impaired with a significant proportion having received both counseling and pharmacotherapy. Adults with ASD have high levels of psychiatric comorbidity and dysfunction comparable to a clinically referred population of adults without ASD.
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5. Scheeren AM, de Rosnay M, Koot HM, Begeer S. {{Rethinking theory of mind in high-functioning autism spectrum disorder}}. {J Child Psychol Psychiatry};2012 (Oct 16)
Background: The sociocommunicative problems in autism spectrum disorder (ASD) are traditionally linked to impairments in Theory of Mind (ToM), the ability to ascribe mental states to others. Although ToM impairments are consistently reported in young children with ASD, findings on more advanced ToM understanding in older individuals with high-functioning ASD (HFASD) are less straightforward. Therefore, we assessed the advanced ToM abilities of a large sample of school-aged children and adolescents with HFASD (n = 194; 6-20 years) and compared them to a typically developing (TD) comparison group (n = 60). Methods: Participants’ advanced ToM was assessed with five social stories containing second-order false beliefs, display rules, double bluff, faux pas, and sarcasm. Results: Participants with HFASD performed equally well on each of the ToM stories as their TD peers. Consistent age effects were noticed with adolescents outperforming the children. Furthermore, advanced ToM was positively associated with participants’ age, verbal abilities, and general reasoning abilities. Conclusions: Counter to what the ToM theory of ASD would predict, school-aged children and adolescents with HFASD seem to be able to master the theoretical principles of advanced mental state reasoning. However, they may still fail to apply these theoretical principles during everyday social interactions.
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6. Shivers CM, Deisenroth LK, Taylor JL. {{Patterns and Predictors of Anxiety Among Siblings of Children with Autism Spectrum Disorders}}. {J Autism Dev Disord};2012 (Oct 18)
The purpose of this study was to examine patterns of anxiety among siblings of children with autism spectrum disorders (ASD), and determine the characteristics of the child with ASD and their parents that predicted anxiety. Data was collected from 1,755 siblings of children with ASD whose families participated in the Simons Simplex Collection; siblings ranged in age from 3 to 18 years (M = 9 years). Male siblings were at increased risk for sub-clinical anxiety problems during middle childhood. Parental history of anxiety disorders, higher maternal pragmatic language, and more proband behavior problems predicted higher anxiety. While siblings overall did not show elevated anxiety symptoms, higher rates of sub-clinical anxiety problems among males and siblings in middle childhood are cause for concern.
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7. Singh SK, Hellemans H, Dom G. {{[Autism spectrum disorder and substance use disorder: an unknown comorbidity?]}}. {Tijdschr Psychiatr};2012;54(10):893-897.
We describe the diagnosis and treatment of a patient with autism spectrum disorder (<span class= »abbreviation »>asd</span>) and substance use disorder (<span class= »abbreviation »>sud</span>). The patient had been given the dual diagnosis of Asperger’s disorder and <span class= »abbreviation »>sud</span>. On that basis the approach adopted and the treatment provided seemed appropriate. Little is known about the comorbidity of <span class= »abbreviation »>asd</span> and <span class= »abbreviation »>sud</span> and it has hardly been reported in the scientific literature or in clinical practice. Epidemiological research shows that this dual diagnosis occurs in clinical populations. A careful psychiatric diagnosis is important in order to ensure that the comorbidity is recognised at an early stage and treated in an appropriate manner.
8. Tager-Flusberg H. {{International society for autism research news}}. {Autism Res};2012 (Oct);5(5):383.
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9. Visser JC, Rommelse N, Vink L, Schrieken M, Oosterling IJ, van der Gaag RJ, Buitelaar JK. {{Narrowly Versus Broadly Defined Autism Spectrum Disorders: Differences in Pre- and Perinatal Risk Factors}}. {J Autism Dev Disord};2012 (Oct 18)
This study examined the differential contribution of pre- and perinatal risks in narrowly versus broadly defined autism spectrum disorder (ASD) and across core symptom domains, IQ and co-morbid problems. Children with a DSM-IV diagnosis of autistic disorder (AD) (n = 121) or pervasive developmental disorder not otherwise specified (PDD-NOS) (n = 75) were compared to a typical control sample (n = 311). Diagnoses were based on extensive assessments between 12 and 49 months of age (M = 33.3, SD = 6.4) and re-evaluated at 43-98 months (M = 68.1, SD = 10.7) in 70 % of the cases. Compared with controls, cases with ASD were more likely to be firstborn and show a suboptimal condition after birth. Case mothers reported more infections and more stress during pregnancy. Although the ASD subgroups showed mostly overlapping risks, cases with PDD-NOS differed from those with AD by higher exposure to smoking during pregnancy (SDP) and by a negative association of smoking with IQ, regardless of confounders. SDP appears to contribute more to broadly defined (PDD-NOS) than to narrowly defined ASD (AD). Findings suggest differences in etiological contributors between ASD phenotypes.
