1. Castro K, Faccioli LS, Baronio D, Gottfried C, Perry IS, Riesgo R. {{Feeding behavior and dietary intake of male children and adolescents with Autism Spectrum Disorder: a case-control study}}. {Int J Dev Neurosci};2016 (Jul 15)
Autism spectrum disorder (ASD) is a neurodevelopmental disorder associated with restrictive or repetitive behaviors and difficulties with verbal and interpersonal communication, in which some problems involving nutrition may be present. This study aims to evaluate dietary intake and identify feeding behavioral problems in male children and adolescents with ASD when compared to matched controls, as well as parents or caregivers’ feelings about strategies for dealing with eating problems. A 3-day food record was performed and nutrient intake was compared to the Dietary Reference Intake according to age. To evaluate children feeding behavior and parents or caregivers’ feelings, the Behavior Pediatrics Feeding Assessment Scale (BPFA) was used. ASD patients consumed in average more calories than controls (though with a high patient’s frequency above and below calorie range references), had a limited food repertoire, high prevalence of children with inadequate calcium, sodium, iron vitamin B5, folate, and vitamin C intake. BPFA scores were also higher in the ASD group when compared to controls for all frequencies (child behavior, parents and total). These findings lead us to endorse the importance of evaluating feeding problems in the clinical routine, considering also the singular features of the patients.
Lien vers le texte intégral (Open Access ou abonnement)
2. Duringer J, Fombonne E, Craig M. {{No Association between Mycotoxin Exposure and Autism: A Pilot Case-Control Study in School-Aged Children}}. {Toxins (Basel)};2016;8(7)
Evaluation of environmental risk factors in the development of autism spectrum disorder (ASD) is needed for a more complete understanding of disease etiology and best approaches for prevention, diagnosis, and treatment. A pilot experiment in 54 children (n = 25 ASD, n = 29 controls; aged 12.4 +/- 3.9 years) screened for 87 urinary mycotoxins via liquid chromatography-tandem mass spectrometry to assess current exposure. Zearalenone, zearalenone-4-glucoside, 3-acetyldeoxynivalenol, and altenuene were detected in 9/54 (20%) samples, most near the limit of detection. No mycotoxin/group of mycotoxins was associated with ASD-diagnosed children. To identify potential correlates of mycotoxin presence in urine, we further compared the nine subjects where a urinary mycotoxin was confirmed to the remaining 45 participants and found no difference based on the presence or absence of mycotoxin for age (t-test; p = 0.322), gender (Fisher’s exact test; p = 0.456), exposure or not to selective serotonin reuptake inhibitors (Fisher’s exact test; p = 0.367), or to other medications (Fisher’s exact test; p = 1.00). While no positive association was found, more sophisticated sample preparation techniques and instrumentation, coupled with selectivity for a smaller group of mycotoxins, could improve sensitivity and detection. Further, broadening sampling to in utero (mothers) and newborn-toddler years would cover additional exposure windows.
Lien vers le texte intégral (Open Access ou abonnement)
3. Fasano A, Sammartino F, Llinas M, Lozano AM. {{MRI-guided focused ultrasound thalamotomy in fragile X-associated tremor/ataxia syndrome}}. {Neurology};2016 (Jul 20)
Lien vers le texte intégral (Open Access ou abonnement)
4. Floris DL, Barber AD, Nebel MB, Martinelli M, Lai MC, Crocetti D, Baron-Cohen S, Suckling J, Pekar JJ, Mostofsky SH. {{Atypical lateralization of motor circuit functional connectivity in children with autism is associated with motor deficits}}. {Mol Autism};2016;7:35.
BACKGROUND: Atypical lateralization of language-related functions has been repeatedly found in individuals with autism spectrum conditions (ASC). Few studies have, however, investigated deviations from typically occurring asymmetry of other lateralized cognitive and behavioural domains. Motor deficits are among the earliest and most prominent symptoms in individuals with ASC and precede core social and communicative symptoms. METHODS: Here, we investigate whether motor circuit connectivity is (1) atypically lateralized in children with ASC and (2) whether this relates to core autistic symptoms and motor performance. Participants comprised 44 right-handed high-functioning children with autism (36 males, 8 females) and 80 typically developing control children (58 males, 22 females) matched on age, sex and performance IQ. We examined lateralization of functional motor circuit connectivity based on homotopic seeds derived from peak activations during a finger tapping paradigm. Motor performance was assessed using the Physical and Neurological Examination for Subtle Signs (PANESS). RESULTS: Children with ASC showed rightward lateralization in mean motor circuit connectivity compared to typically developing children, and this was associated with poorer performance on all three PANESS measures. CONCLUSIONS: Our findings reveal that atypical lateralization in ASC is not restricted to language functions but is also present in circuits subserving motor functions and may underlie motor deficits in children with ASC. Future studies should investigate whether this is an age-invariant finding extending to adolescents and adults and whether these asymmetries relate to atypical lateralization in the language domain.
Lien vers le texte intégral (Open Access ou abonnement)
5. Jeste SS, Varcin KJ, Hellemann GS, Gulsrud AC, Bhatt R, Kasari C, Wu JY, Sahin M, Nelson CA, 3rd. {{Symptom profiles of autism spectrum disorder in tuberous sclerosis complex}}. {Neurology};2016 (Jul 20)
OBJECTIVE: To determine the extent to which deficits associated with autism spectrum disorder (ASD) in toddlers with tuberous sclerosis complex (TSC) overlap with those in toddlers with nonsyndromic ASD (nsASD) and to examine cognitive function and epilepsy severity in toddlers with TSC and comorbid ASD. This is the endpoint analysis from a longitudinal investigation of ASD risk factors in children with TSC. METHODS: Measures included the Autism Diagnostic Observation Schedule (ADOS), the Mullen Scales of Early Learning, and clinical epilepsy variables. A repeated-measures analysis of variance was performed with between-subjects factor of group (typically developing, TSC/no ASD, TSC/ASD, nsASD) and within-subjects factors of individual ADOS item scores in the social communication and repetitive behavior/restricted interest domains. Within the TSC group, comparisons of epilepsy characteristics and cognitive domains were performed using independent-samples t tests. RESULTS: Children with TSC/ASD demonstrated a profile of social communication impairment that had complete convergence with nsASD. Measured social communication impairments included gestures, pointing, eye contact, responsive social smile, and shared enjoyment. This convergence was observed despite the high comorbidity between ASD and cognitive impairment in TSC. CONCLUSIONS: This study supports the clinical diagnosis of ASD in young children with TSC and demonstrates remarkable convergence of autism symptoms between TSC/ASD and nsASD. Our results strongly suggest the need for early intervention in toddlers with TSC, with treatment strategies targeting social communication function as well as broader developmental domains, before the onset of autism symptoms.
Lien vers le texte intégral (Open Access ou abonnement)
6. Li H, Zhao P, Xu Q, Shan S, Hu C, Qiu Z, Xu X. {{The autism-related gene SNRPN regulates cortical and spine development via controlling nuclear receptor Nr4a1}}. {Sci Rep};2016;6:29878.
The small nuclear ribonucleoprotein polypeptide N (SNRPN) gene, encoding the RNA-associated SmN protein, duplications or deletions of which are strongly associated with neurodevelopmental disabilities. SNRPN-coding protein is highly expressed in the brain. However, the role of SNRPN protein in neural development remains largely unknown. Here we showed that the expression of SNRPN increased markedly during postnatal brain development. Overexpression or knockdown of SNRPN in cortical neurons impaired neurite outgrowth, neuron migration, and the distribution of dendritic spines. We found that SNRPN regulated the expression level of Nr4a1, a critical nuclear receptor during neural development, in cultured primary cortical neurons. The abnormal spine development caused by SNRPN overexpression could be fully rescued by Nr4a1 co-expression. Importantly, we found that either knockdown of Nr4a1 or 3, 3′- Diindolylmethane (DIM), an Nr4a1 antagonist, were able to rescue the effects of SNRPN knockdown on neurite outgrowth of embryonic cortical neurons, providing the potential therapeutic methods for SNRPN deletion disorders. We thus concluded that maintaining the proper level of SNRPN is critical in cortical neurodevelopment. Finally, Nr4a1 may serve as a potential drug target for SNRPN-related neurodevelopmental disabilities, including Prader-Willi syndrome (PWS) and autism spectrum disorders (ASDs).
Lien vers le texte intégral (Open Access ou abonnement)
7. Luxford S, Hadwin JA, Kovshoff H. {{Evaluating the Effectiveness of a School-Based Cognitive Behavioural Therapy Intervention for Anxiety in Adolescents Diagnosed with Autism Spectrum Disorder}}. {J Autism Dev Disord};2016 (Jul 20)
This study evaluated the effectiveness of a school-based Cognitive Behavioural Therapy (CBT) on symptoms of anxiety, social worry and social responsiveness, and indices of attentional control and attentional biases to threat in adolescents diagnosed with Autism Spectrum Disorder. Thirty-five young people (11-14 years; IQ > 70) with ASD and elevated teacher or parent reported anxiety were randomly assigned to 6 sessions of the Exploring Feelings CBT intervention (Attwood in Exploring feelings (anxiety). Future Horizons, Arlington, 2004) (n = 18) or a wait-list control group (n = 17). The intervention (compared to the wait-list control) group showed positive change for parent, teacher and self-reported anxiety symptoms, and more marginal effects of increased teacher-reported social responsiveness. The discussion highlights the potential value and limitations of school-based CBT for young people with ASD.
Lien vers le texte intégral (Open Access ou abonnement)
8. Niort J, Hernandez Vazquez FJ. {{Comparative study of laterality in people with fragile X syndrome, people with intellectual disabilities, and people with typical development}}. {Laterality};2016 (Jul 19):1-13.
Following on from the studies by McManus and Cornish [(1997). Fractionating handedness in mental retardation: What is the role of the cerebellum? Laterality, 2(2), 81-89] and Cornish, Pigram, and Shaw [(1997). Do anomalies of handedness exist in children with fragile-X syndrome? Laterality, 2(2), 91-101], the aim of this paper was to determine laterality in people with fragile X syndrome (FXS). The sample comprised three study groups: the first with 30 people with FXS (mean age 17.9 years), the second 34 people with various intellectual disabilities (ID, mean age 20.9 years), and the third 160 people with typical development (mean age 14.7 years). Laterality was assessed with a test adapted for this study. The results confirm the preponderance of right-handedness (93.3%) in people with FXS and present new data regarding footedness and sensory dominance (eyedness and earedness), indicating inconsistent footedness and ocular cross-dominance. Almost three-quarters (73.5%) of people with other ID were right-handed. The results corroborate those of McManus and Cornish (1997). People with FXS tend to be right-handed but have ocular cross-dominance.
Lien vers le texte intégral (Open Access ou abonnement)
9. Peralta F, Fuentealba C, Fiedler J, Aliaga E. {{Prenatal valproate treatment produces autistic-like behavior and increases metabotropic glutamate receptor 1A-immunoreactivity in the hippocampus of juvenile rats}}. {Mol Med Rep};2016 (Jul 18)
Autism spectrum disorder (ASD) is a heterogeneous neurodevelopmental disorder characterized by deficits in social communication and social interaction, and repetitive and stereotypical patterns of behavior. Previously, a common physiopathological pathway, involving the control of synaptic protein synthesis, was proposed as a convergence point in ASD. In particular, a role for local mRNA translation activated by class I metabotropic glutamate receptor type 5 (mGluR5) was suggested in genetic syndromes with autistic signs and in the prenatal exposition to the valproate model of autism. However, the role of the other members of class I metabotropic glutamate receptors, including mGluR1, has been poorly studied. The present study analyzed the immunoreactivity for mGluR1a in the hippocampus of rats prenatally treated with valproate. Pregnant dams (embryonic day 12.5) were injected with valproate (450 mg/kg) and subsequently, the behavior and mGluR1a were evaluated at postnatal day 30. Experimental rats exhibited social deficit, repetitive conduct and anxious behaviors compared with that of the control animals. Additionally, the present study observed an increased level of mGluR1a-immunoreactivity in the hilus of dentate gyrus and in the CA1 alveus region of the hippocampus. These results suggested an overfunctioning of mGluR1a signaling in the hippocampus, induced in the valproate model of autism, which may serve a role in cognitive and behavioral signs of ASD.
Lien vers le texte intégral (Open Access ou abonnement)
10. Strauss LV. {{From pilot fish to analyst: Finding a path between symbiotic and autistic defences}}. {Int J Psychoanal};2016 (Jul 20)
This paper presents the clinical case of a patient with autistic features. One of the main difficulties in his treatment was the particular rapid rhythm of his projections, introjections and re-projections that constrained the analyst’s capacity for reverie and hindered the use of effective projective identification processes. These alternating defensive constellations lead either to an expelling autistic barrier or to an engulfing symbiotic fusion. Their combination can be seen as the expression of a defence against an unintegrated and undifferentiated early experience of self that was in this way kept at bay to prevent it from invading his whole personality. Maintaining the symbiotic link, in which I kept included by staying partially fused to what was being projected and using my analytic function in a reduced way, helped to relate to what was in the patient’s inside. Leaving this symbiotic link let my interpretations appear to ‘force’ their way through the autistic barrier. Yet as the process developed they allowed to show the patient how he ejected me and what was happening in his inside, behind his autistic barrier. So I found myself on the one hand accepting the symbiotic immobilization and on the other hand interpreting in a way that seemed forced to the patient, because it implied a breaking of the symbiotic position. The inordinate speed of projections and introjections could thus be interrupted, creating a space for awareness, reflection and transformation, and allowed the emergence of a connection between the patient’s inside and outside. In the course of treatment I realized that this kind of dual defence system has been described by the late Argentinian analyst Jose Bleger. He assumes the existence of an early « agglutinated nucleus » that is held together by a psychic structure he calls the « glischro-caric » position, in which projective identification cannot take place because there is no self/object differentiation. I have considered the rapid and fugitive use of projection and re-introjection I met in my patient to be a manifestation of the dual defence system Bleger describes. Although he does not specifically mention this particular vicissitude of operative defences he does give hints about a rhythm in the patients’ projections and introjections.
Lien vers le texte intégral (Open Access ou abonnement)
11. von dem Hagen EA, Bright N. {{High autistic trait individuals do not modulate gaze behaviour in response to social presence but look away more when actively engaged in an interaction}}. {Autism Res};2016 (Jul 19)
Autism is characterised by difficulties in social functioning, notably in interactions with other people. Yet, most studies addressing social difficulties have used static images or, at best, videos of social stimuli, with no scope for real interaction. Here, we study one crucial aspect of social interactions-gaze behaviour-in an interactive setting. First, typical individuals were shown videos of an experimenter and, by means of a deception procedure, were either led to believe that the experimenter was present via a live video-feed or was pre-recorded. Participants’ eye movements revealed that when passively viewing an experimenter they believed to be « live, » they looked less at that person than when they believed the experimenter video was pre-recorded. Interestingly, this reduction in viewing behaviour in response to the believed « live » presence of the experimenter was absent in individuals high in autistic traits, suggesting a relative insensitivity to social presence alone. When participants were asked to actively engage in a real-time interaction with the experimenter, however, high autistic trait individuals looked significantly less at the experimenter relative to low autistic trait individuals. The results reinforce findings of atypical gaze behaviour in individuals high in autistic traits, but suggest that active engagement in a social interaction may be important in eliciting reduced looking. We propose that difficulties with the spatio-temporal dynamics associated with real social interactions rather than underlying difficulties processing the social stimulus itself may drive these effects. The results underline the importance of developing ecologically valid methods to investigate social cognition. Autism Res 2016. (c) 2016 The Authors Autism Research published by Wiley Periodicals, Inc. on behalf of International Society for Autism Research.
Lien vers le texte intégral (Open Access ou abonnement)
12. Weber AR, Ostendorf A. {{Teaching NeuroImages: A central theta EEG rhythm in Rett syndrome can masquerade as seizure}}. {Neurology};2016 (Jul 19);87(3):e29-30.
Lien vers le texte intégral (Open Access ou abonnement)
13. Zhao XN, Lokanga R, Allette K, Gazy I, Wu D, Usdin K. {{A MutSbeta-Dependent Contribution of MutSalpha to Repeat Expansions in Fragile X Premutation Mice?}}. {PLoS Genet};2016 (Jul);12(7):e1006190.
The fragile X-related disorders result from expansion of a CGG/CCG microsatellite in the 5′ UTR of the FMR1 gene. We have previously demonstrated that the MSH2/MSH3 complex, MutSbeta, that is important for mismatch repair, is essential for almost all expansions in a mouse model of these disorders. Here we show that the MSH2/MSH6 complex, MutSalpha also contributes to the production of both germ line and somatic expansions as evidenced by the reduction in the number of expansions observed in Msh6-/- mice. This effect is not mediated via an indirect effect of the loss of MSH6 on the level of MSH3. However, since MutSbeta is required for 98% of germ line expansions and almost all somatic ones, MutSalpha is apparently not able to efficiently substitute for MutSbeta in the expansion process. Using purified human proteins we demonstrate that MutSalpha, like MutSbeta, binds to substrates with loop-outs of the repeats and increases the thermal stability of the structures that they form. We also show that MutSalpha facilitates binding of MutSbeta to these loop-outs. These data suggest possible models for the contribution of MutSalpha to repeat expansion. In addition, we show that unlike MutSbeta, MutSalpha may also act to protect against repeat contractions in the Fmr1 gene.
