1. {{Neurodevelopmental disorders: Metabolic conditions during pregnancy could be a risk factor for autism}}. {Nat Rev Neurol};2012 (May 22)
Lien vers le texte intégral (Open Access ou abonnement)
2. Ameis SH, Szatmari P. {{Imaging-genetics in autism spectrum disorder: advances, translational impact, and future directions}}. {Front Psychiatry};2012;3:46.
Autism Spectrum Disorder (ASD) refers to a group of heterogeneous neurodevelopmental disorders that are unified by impairments in reciprocal social communication and a pattern of inflexible behaviors. Recent genetic advances have resolved some of the complexity of the genetic architecture underlying ASD by identifying several genetic variants that contribute to the disorder. Different etiological pathways associated with ASD may converge through effects on common molecular mechanisms, such as synaptogenesis, neuronal motility, and axonal guidance. Recently, with more sophisticated techniques, neuroimaging, and neuropathological studies have provided some consistency of evidence that altered structure, activity, and connectivity within complex neural networks is present in ASD, compared to typically developing children. The imaging-genetics approach promises to help bridge the gap between genetic variation, resultant biological effects on the brain, and production of complex neuropsychiatric symptoms. Here, we review recent findings from the developing field of imaging-genetics applied to ASD. Studies to date have indicated that relevant risk genes are associated with alterations in circuits that mediate socio-emotional, visuo-spatial, and language processing. Longitudinal studies ideally focused on early development, in conjunction with investigation for gene-gene, and gene-environment interactions may move the promise of imaging-genetics in ASD closer to the clinical domain.
Lien vers le texte intégral (Open Access ou abonnement)
3. Anderson GM. {{Twin Studies in Autism: What Might They Say About Genetic and Environmental Influences}}. {J Autism Dev Disord};2012 (May 18)
Genetic and epigenetic differences exist within monozygote twin-pairs and might be especially important in the expression of autism. Assuming phenotypic differences between monozygotic twins are due to environmental influences may lead to mistaken conclusions regarding the relative genetic and environmental contribution to autism risk.
Lien vers le texte intégral (Open Access ou abonnement)
4. Betalli P, Carretto E, Cananzi M, Zanatta L, Salvador R, Galeazzi F, Guariso G, Gamba P, Costantini M. {{Autism and esophageal achalasia in childhood: a possible correlation? Report on three cases}}. {Dis Esophagus};2012 (May 18)
Chronic gastrointestinal symptoms are commonly reported in autistic patients. Dysphagia is often present, and it is generally related to behavioral eating disorders. The association between autism and esophageal achalasia has not been described in literature yet. We report our experience with three cases of autistic children we recently treated for esophageal achalasia. In the first case (a 14-year-old male), achalasia was diagnosed with barium swallow and esophageal manometry and was successfully treated with three pneumatic endoscopic dilatations (follow-up: 3 years). In the second case (a 12-year-old female), achalasia was diagnosed with barium swallow and esophageal manometry and was treated with Heller myotomy after two unsuccessful pneumatic endoscopic attempts (follow-up: 3 months). In the last case, a 15-year-old male underwent barium swallow and endoscopy that confirmed achalasia. He was treated with Heller myotomy, and he is asymptomatic at a 6-month follow-up. To our knowledge, this is the first report of a possible association between autism and esophageal achalasia. Because of the rarity of both diseases, their association in the same patient is unlikely to be casual even if speculation on their common etiology is impossible at present. This finding needs further confirmation, but it is sufficient, in our opinion, to indicate proper evaluation with barium swallow and/or manometry in any autistic children with eating difficulty.
Lien vers le texte intégral (Open Access ou abonnement)
5. Cihak DF, Kildare LK, Smith CC, McMahon DD, Quinn-Brown L. {{Using Video Social Stories to Increase Task Engagement for Middle School Students With Autism Spectrum Disorders}}. {Behav Modif};2012 (May 17)
Four middle school students with autism spectrum disorders participated in a brief functional analysis and a video Social Stories() intervention to remediate attention-seeking and task-avoidance behaviors. Results indicated that matching video Social Stories() to specific functions of behaviors increased task-engagement behaviors in the general education classroom for all students. In addition, special and general education teachers, as well as participating students, reported favorable social acceptability of the intervention.
Lien vers le texte intégral (Open Access ou abonnement)
6. Fogleman CD. {{Therapies for children with autism spectrum disorders}}. {Am Fam Physician};2012 (May 1);85(9):878-880.
7. Guiraud JA, Tomalski P, Kushnerenko E, Ribeiro H, Davies K, Charman T, Elsabbagh M, Johnson MH. {{Atypical Audiovisual Speech Integration in Infants at Risk for Autism}}. {PLoS One};2012;7(5):e36428.
The language difficulties often seen in individuals with autism might stem from an inability to integrate audiovisual information, a skill important for language development. We investigated whether 9-month-old siblings of older children with autism, who are at an increased risk of developing autism, are able to integrate audiovisual speech cues. We used an eye-tracker to record where infants looked when shown a screen displaying two faces of the same model, where one face is articulating/ba/and the other/ga/, with one face congruent with the syllable sound being presented simultaneously, the other face incongruent. This method was successful in showing that infants at low risk can integrate audiovisual speech: they looked for the same amount of time at the mouths in both the fusible visual/ga/- audio/ba/and the congruent visual/ba/- audio/ba/displays, indicating that the auditory and visual streams fuse into a McGurk-type of syllabic percept in the incongruent condition. It also showed that low-risk infants could perceive a mismatch between auditory and visual cues: they looked longer at the mouth in the mismatched, non-fusible visual/ba/- audio/ga/display compared with the congruent visual/ga/- audio/ga/display, demonstrating that they perceive an uncommon, and therefore interesting, speech-like percept when looking at the incongruent mouth (repeated ANOVA: displays x fusion/mismatch conditions interaction: F(1,16) = 17.153, p = 0.001). The looking behaviour of high-risk infants did not differ according to the type of display, suggesting difficulties in matching auditory and visual information (repeated ANOVA, displays x conditions interaction: F(1,25) = 0.09, p = 0.767), in contrast to low-risk infants (repeated ANOVA: displays x conditions x low/high-risk groups interaction: F(1,41) = 4.466, p = 0.041). In some cases this reduced ability might lead to the poor communication skills characteristic of autism.
Lien vers le texte intégral (Open Access ou abonnement)
8. Hartley SL, Seltzer MM, Head L, Abbeduto L. {{Psychological Well-being in Fathers of Adolescents and Young Adults with Down Syndrome, Fragile X Syndrome, and Autism}}. {Fam Relat};2012 (Apr 1);61(2):327-342.
The psychological well-being of fathers of children with developmental disabilities remains poorly understood. The present study examined depressive symptoms, pessimism, and coping in fathers of adolescents and young adults with Down syndrome (DS; n = 59), autism spectrum disorders (ASDs; n = 135), and fragile X syndrome (FXS; n = 46) Fathers of sons/daughters with ASDs reported a higher level of depressive symptoms than the other groups of fathers. Fathers of sons/daughters with DS reported a lower level of pessimism than the other groups of fathers. There were no group differences in paternal coping style. Group differences in paternal depressive symptoms and pessimism were, in part, related to differences in paternal age, the child’s behavior problems, risk of having additional children with a disability, and maternal depressive symptoms. Findings from this study can be used to educate providers and design services for fathers during the later parenting years.
Lien vers le texte intégral (Open Access ou abonnement)
9. Johnson CR, Turner KS, Foldes EL, Malow BA, Wiggs L. {{Comparison of sleep questionnaires in the assessment of sleep disturbances in children with autism spectrum disorders}}. {Sleep Med};2012 (May 18)
BACKGROUND AND PURPOSE: The purpose of this study was to compare two parent completed questionnaires, the Modified Simonds & Parraga Sleep Questionnaire (MSPSQ) and the Children’s Sleep Habits Questionnaire (CSHQ), used to characterize sleep disturbances in young children with autism spectrum disorders (ASD). Both questionnaires have been used in previous work in the assessment and treatment of children with ASD and sleep disturbance. PARTICIPANTS AND METHODS: Parents/caregivers of a sample of 124 children diagnosed with ASD with an average age of six years completed both sleep questionnaires regarding children’s sleep behaviors. Internal consistency of the items for both measures was evaluated as well as the correlation between the two sleep measures. A Receiver Operating Characteristics (ROC) curve analysis was also conducted to examine the predictive power of the MSPSQ. RESULTS: More than three quarters of the sample (78%) were identified as poor sleepers on the CSHQ. Cronbach’s alpha for the items on the CSHQ was 0.68 and Cronbach’s alpha for items on the MSPSQ was 0.67. The total scores for MSPSQ and CSHQ were significantly correlated (r=.70, p<.01). After first identifying the poor sleepers based on the CSHQ, an area under the curve was 0.89 for the MSPSQ. Using a cut off score of 56 on the MSPSQ, sensitivity was .86 and specificity was .70. CONCLUSIONS: In this sample of children with ASD, sleep disturbances were common across all cognitive levels. Preliminary findings suggest that, similar to the CSHQ, the MSPSQ has adequate internal consistency. The two measures were also highly correlated. A preliminary cut off of 56 on the MSPSQ offers high sensitivity and specificity commensurate with the widely used CSHQ.
Lien vers le texte intégral (Open Access ou abonnement)
10. Kuehn BM. {{Data on autism prevalence, trajectories illuminate socioeconomic disparities}}. {JAMA};2012 (May 23);307(20):2137-2138.
Lien vers le texte intégral (Open Access ou abonnement)
11. McPartland J, Volkmar FR. {{Autism and related disorders}}. {Handb Clin Neurol};2012;106:407-418.
The pervasive developmental disorders are a group of neurodevelopmental disorders that include autistic disorder, Asperger’s disorder, pervasive developmental disorder – not otherwise specified (PDD-NOS), childhood disintegrative disorder (CDD), and Rett’s disorder. All feature childhood onset with a constellation of symptoms spanning social interaction and communication and including atypical behavior patterns. The first three disorders (autistic disorder, Asperger’s disorder, and PDD-NOS) are currently referred to as autism spectrum disorders, reflecting divergent phenotypic and etiological characteristics compared to Rett’s disorder and CDD. This chapter reviews research and clinical information to appropriate medical diagnosis and treatment.
Lien vers le texte intégral (Open Access ou abonnement)
12. Riera DC, Phalen JA. {{Superior Mesenteric Artery Syndrome in a Patient with Autism Spectrum Disorder: Case Report and Review of the Literature}}. {J Autism Dev Disord};2012 (May 19)
Lien vers le texte intégral (Open Access ou abonnement)
13. Russo N, Mottron L, Burack JA, Jemel B. {{Parameters of semantic multisensory integration depend on timing and modality order among people on the autism spectrum: Evidence from Event-Related Potentials}}. {Neuropsychologia};2012 (May 18)
Individuals with autism spectrum disorders (ASD) report difficulty integrating simultaneously presented visual and auditory stimuli (Iarocci & McDonald, 2006), albeit showing enhanced perceptual processing of unisensory stimuli, as well as an enhanced role of perception in higher-order cognitive tasks (Enhanced Perceptual Functioning (EPF) model; Mottron, Dawson, Soulieres, Hubert, & Burack, 2006). Individuals with an ASD also integrate auditory-visual inputs over longer periods of time than matched typically developing (TD) peers (Kwayke et al., 2011). To tease apart the dichotomy of both extended multisensory processing and enhanced perceptual processing, we used behavioral and electrophysiological measurements of audio-visual integration among persons with ASD. 13 TD and 14 autistics matched on IQ completed a forced choice multisensory semantic congruence task requiring speeded responses regarding the congruence or incongruence of animal sounds and pictures. Stimuli were presented simultaneously or sequentially at various stimulus onset asynchronies in both auditory first and visual first presentations. No group differences were noted in reaction time (RT) or accuracy. The latency at which congruent and incongruent waveforms diverged was the component of interest. In simultaneous presentations, congruent and incongruent waveforms diverged earlier (circa 150ms) among persons with ASD than among TD individuals (around 350ms). In sequential presentations, asymmetries in the timing of neuronal processing were noted in ASD which depended on stimulus order, but these were consistent with the nature of specific perceptual strengths in this group. These findings extend the Enhanced Perceptual Functioning Model to the multisensory domain, and provide a more nuanced context for interpreting ERP findings of impaired semantic processing in ASD.
Lien vers le texte intégral (Open Access ou abonnement)
14. Strang JF, Kenworthy L, Daniolos P, Case L, Wills MC, Martin A, Wallace GL. {{Depression and Anxiety Symptoms in Children and Adolescents with Autism Spectrum Disorders without Intellectual Disability}}. {Res Autism Spectr Disord};2012 (Jan);6(1):406-412.
Recent studies have shown that rates of depression and anxiety symptoms are elevated among individuals with autism spectrum disorders (ASDs) of various ages and IQs and that depression/anxiety symptoms are associated with higher IQ and fewer ASD symptoms. In this study which examined correlates of depression and anxiety symptoms in the full school-age range of children and adolescents (age 6-18) with ASDs and IQs >/= 70 (n=95), we also observed elevated rates of depression/anxiety symptoms, but we did not find higher IQ or fewer ASD symptoms among individuals with ASDs and depression or anxiety symptoms. These findings indicate an increased risk for depression/anxiety symptoms in children and adolescents with ASDs without intellectual disability, regardless of age, IQ, or ASD symptoms.
Lien vers le texte intégral (Open Access ou abonnement)
15. Tordjman S, Anderson GM, Bellissant E, Botbol M, Charbuy H, Camus F, Graignic R, Kermarrec S, Fougerou C, Cohen D, Touitou Y. {{Day and nighttime excretion of 6-sulphatoxymelatonin in adolescents and young adults with autistic disorder}}. {Psychoneuroendocrinology};2012 (May 19)
BACKGROUND: Several reports indicate that nocturnal production of melatonin is reduced in autism. Our objective was to examine whether melatonin production is decreased during the whole 24-h cycle, whether the melatonin circadian rhythm is inverted, and whether the reduction in melatonin production is related to the severity of autistic behavioral impairments. METHOD: Day and nighttime urinary excretion of 6-sulphatoxymelatonin (6-SM) was examined during a 24-h period in post-pubertal individuals with autism (N=43) and typically developing controls (N=26) matched for age, sex and pubertal stage. RESULTS: Low 6-SM excretion (mean+/-SEM) was observed in autism, both at daytime (0.16+/-0.03 vs. 0.36+/-0.05mug/h, p<0.01), nighttime (0.52+/-0.07 vs. 1.14+/-0.23mug/h, p<0.05), and during 24h (8.26+/-1.27 vs. 18.00+/-3.43mug/24-h collection, p<0.001). Intra-individual nighttime-daytime differences (delta values) in 6-SM excretion were smaller in individuals with autism than in controls (0.36+/-0.07 vs. 0.79+/-0.23mug/h, p<0.05). Nocturnal excretion of 6-SM was negatively correlated with autism severity in the overall level of verbal language (Spearman rho=-0.30, p<0.05), imitative social play (Spearman rho=-0.42, p<0.05), and repetitive use of objects (Spearman rho=-0.36, p<0.05). CONCLUSION: A deficit in melatonin production is present both at daytime and at nighttime in individuals with autism, particularly in the most severely affected individuals. These results highlight interest in potential therapeutic uses of melatonin in autistic disorder, especially in individuals with severe autistic impairment and/or low urinary 6-SM excretion.
Lien vers le texte intégral (Open Access ou abonnement)
16. Wei H, Dobkin C, Sheikh AM, Malik M, Brown WT, Li X. {{The Therapeutic effect of Memantine through the Stimulation of Synapse Formation and Dendritic Spine Maturation in Autism and Fragile X Syndrome}}. {PLoS One};2012;7(5):e36981.
Although the pathogenic mechanisms that underlie autism are not well understood, there is evidence showing that metabotropic and ionotropic glutamate receptors are hyper-stimulated and the GABAergic system is hypo-stimulated in autism. Memantine is an uncompetitive antagonist of NMDA receptors and is widely prescribed for treatment of Alzheimer’s disease treatment. Recently, it has been shown to improve language function, social behavior, and self-stimulatory behaviors of some autistic subjects. However the mechanism by which memantine exerts its effect remains to be elucidated. In this study, we used cultured cerebellar granule cells (CGCs) from Fmr1 knockout (KO) mice, a mouse model for fragile X syndrome (FXS) and syndromic autism, to examine the effects of memantine on dendritic spine development and synapse formation. Our results show that the maturation of dendritic spines is delayed in Fmr1-KO CGCs. We also detected reduced excitatory synapse formation in Fmr1-KO CGCs. Memantine treatment of Fmr1-KO CGCs promoted cell adhesion properties. Memantine also stimulated the development of mushroom-shaped mature dendritic spines and restored dendritic spine to normal levels in Fmr1-KO CGCs. Furthermore, we demonstrated that memantine treatment promoted synapse formation and restored the excitatory synapses to a normal range in Fmr1-KO CGCs. These findings suggest that memantine may exert its therapeutic capacity through a stimulatory effect on dendritic spine maturation and excitatory synapse formation, as well as promoting adhesion of CGCs.
