1. {{Taking antidepressants during pregnancy linked to autism}}. {Nurs Stand};2017 (Aug 16);31(51):17.
Children exposed to antidepressants in utero are at a slightly higher risk of autism than children of mothers with psychiatric disorders who were not treated with antidepressants, a study has found.
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2. Ahmad SF, Ansari MA, Nadeem A, Bakheet SA, Almutairi MM, Attia SM. {{Adenosine A2A receptor signaling affects IL-21/IL-22 cytokines and GATA3/T-bet transcription factor expression in CD4+ T cells from a BTBR T+ Itpr3tf/J mouse model of autism}}. {J Neuroimmunol};2017 (Aug 09)
Autism is a complex heterogeneous neurodevelopmental disorder; previous studies have identified altered immune responses among individuals diagnosed with autism. An imbalance in the production of pro- and anti-inflammatory cytokines and transcription factors plays a role in neurodevelopmental behavioral and autism disorders. BTBR T+ Itpr3tf/J (BTBR) mice are used as a model for autism, as they exhibit social deficits, communication deficits, and repetitive behaviors compared with C57BL/6J (B6) mice. The adenosine A2A receptor (A2AR) appears to be a potential target for the improvement of behavioral, inflammatory, immune, and neurological disorders. We investigated the effects of the A2AR antagonist SCH 5826 (SCH) and agonist CGS 21680 (CGS) on IL-21, IL-22, T-bet, T-box transcription factor (T-bet), GATA3 (GATA Binding Protein 3), and CD152 (CTLA-4) expression in BTBR mice. Our results showed that BTBR mice treated with SCH had increased CD4+IL-21+, CD4+IL-22+, CD4+GATA3+, and CD4+T-bet+ and decreased CD4+CTLA-4+ expression in spleen cells compared with BTBR control mice. Moreover, CGS efficiently decreased CD4+IL-21+, CD4+IL-22+, CD4+GATA3+, and CD4+T-bet+ and increased CD4+CTLA-4 production in spleen cells compared with SCH-treated and BTBR control mice. Additionally, SCH treatment significantly increased the mRNA and protein expression levels of IL-21, IL-22, GATA3, and T-bet in brain tissue compared with CGS-treated and BTBR control mice. The augmented levels of IL-21/IL-22 and GATA3/T-bet could be due to altered A2AR signaling. Our results indicate that A2AR agonists may represent a new class of compounds that can be developed for use in the treatment of autistic and neuroimmune dysfunctions.
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3. Bonanni P, Casellato S, Fabbro F, Negrin S. {{Epilepsy in fragile-X-syndrome mimicking panayiotopoulos syndrome: Description of three patients}}. {Am J Med Genet A};2017 (Aug 16)
Fragile-X-syndrome is the most common cause of inherited intellectual disability. Epilepsy is reported to occur in 10-20% of individuals with Fragile-X-syndrome. A frequent seizure/electroencephalogram (EEG) pattern resembles that of benign rolandic epilepsy. We describe the clinical features, EEG findings and evolution in three patients affected by Fragile-X-syndrome and epilepsy mimicking Panayiotopoulos syndrome. Age at seizure onset was between 4 and about 7 years. Seizures pattern comprised a constellation of autonomic symptoms with unilateral deviation of the eyes and ictal syncope. Duration of the seizures could be brief or lengthy. Interictal EEGs revealed functional multifocal abnormalities. The evolution was benign in all patients with seizures remission before the age of 14. This observation expands the spectrum of benign epileptic phenotypes present in Fragile-X-syndrome and may be quite helpful in guiding anticonvulsant management and counseling families as to expectations regarding seizure remission.
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4. Colombi C, Ghaziuddin M. {{Neuropsychological Characteristics of Children with Mixed Autism and ADHD}}. {Autism Res Treat};2017;2017:5781781.
Clinical heterogeneity is a well-established characteristic of autism spectrum disorder (ASD). While the comorbidity of ASD and ADHD is well known in clinical practice, relatively little research has examined the neuropsychological profile of children with ASD + ADHD. Our study showed significant differences in the neuropsychological characteristics of children with ASD + ADHD compared to those with ASD only. Children with ASD + ADHD showed higher symptoms of anxiety, worse working memory, and less empathy, as measured by the « Reading the Mind in the Eyes. » This suggests that having ADHD brings further challenges to individuals with ASD and may negatively impact their management and outcome. Our findings may have implications for clinical assessment as well as for intervention.
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5. Dyer C. {{Private GP who ran autism clinic is banned from seeing patients pending investigation}}. {Bmj};2017 (Aug 15);358:j3899.
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6. El-Rashidy O, El-Baz F, El-Gendy Y, Khalaf R, Reda D, Saad K. {{Ketogenic diet versus gluten free casein free diet in autistic children: a case-control study}}. {Metab Brain Dis};2017 (Aug 14)
Many diet regimens were studied for patients with autism spectrum disorder (ASD) over the past few years. Ketogenic diet is gaining attention due to its proven effect on neurological conditions like epilepsy in children. Forty-five children aged 3-8 years diagnosed with ASD based on DSM-5 criteria were enrolled in this study. Patients were equally divided into 3 groups, first group received ketogenic diet as modified Atkins diet (MAD), second group received gluten free casein free (GFCF) diet and the third group received balanced nutrition and served as a control group. All patients were assessed in terms of neurological examination, anthropometric measures, as well as Childhood Autism Rating Scale (CARS), Autism Treatment Evaluation Test (ATEC) scales before and 6 months after starting diet. Both diet groups showed significant improvement in ATEC and CARS scores in comparison to control group, yet ketogenic scored better results in cognition and sociability compared to GFCF diet group. Depending on the parameters measured in our study, modified Atkins diet and gluten free casein free diet regimens may safely improve autistic manifestations and could be recommended for children with ASD. At this stage, this study is a single center study with a small number of patients and a great deal of additional wide-scale prospective studies are however needed to confirm these results. TRIAL REGISTRATION NUMBER: UMIN-CTR Study Design: trial Number UMIN000021433.
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7. Fujino J, Tei S, Hashimoto RI, Itahashi T, Ohta H, Kanai C, Okada R, Kubota M, Nakamura M, Kato N, Takahashi H. {{Attitudes toward risk and ambiguity in patients with autism spectrum disorder}}. {Mol Autism};2017;8:45.
Although the ability to make optimal decisions under uncertainty is an integral part of everyday life, individuals with autism spectrum disorder (ASD) frequently report that they experience difficulties with this skill. In behavioral economics, researchers distinguish two types of uncertainty to understand decision-making in this setting: risk (known probabilities) and ambiguity (unknown probabilities). However, it remains unclear how individuals with ASD behave under risk and ambiguity, despite growing evidence of their altered decision-making under uncertainty. We therefore extended previous research by studying the attitudes of those with ASD toward risk and ambiguity in both positive and negative contexts (i.e., gain and loss). In gain contexts, no significant difference was observed between the groups in risk attitudes, but ambiguity aversion was attenuated in ASD. In loss contexts, ambiguity attitudes did not significantly differ between the groups, but the ASD participants were less risk-seeking compared with the controls. In addition, insensitivity to the context change under risk and ambiguity in ASD was both significantly associated with poor social skills. These results improve our understanding of altered decision-making under uncertainty by disentangling the attitudes toward risk and ambiguity in ASD individuals. Applying behavioral economic tools may provide insights into the mechanisms underlying behavioral disturbances in ASD.
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8. Fukuyama H, Kumagaya SI, Asada K, Ayaya S, Kato M. {{Autonomic versus perceptual accounts for tactile hypersensitivity in autism spectrum disorder}}. {Sci Rep};2017 (Aug 15);7(1):8259.
Tactile atypicality in individuals with autism spectrum disorder (ASD) has harmful effects on their everyday lives including social interactions. However, whether tactile atypicality in ASD reflects perceptual and/or autonomic processes is unknown. Here, we show that adults with ASD have hypersensitivity to tactile stimuli in the autonomic but not perceptual domain. In particular, adults with ASD showed a greater skin conductance response (SCR) to tactile stimuli compared to typically developing (TD) adults, despite an absence of differences in subjective responses. Furthermore, the level of the SCR was correlated with sensory sensitivity in daily living. By contrast, in perceptual discriminative tasks that psychophysically measured thresholds to tactile stimuli, no differences were found between the ASD and TD groups. These results favor the hypothesis that atypical autonomic processing underlies tactile hypersensitivity in ASD.
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9. Gogliotti RG, Senter RK, Fisher NM, Adams J, Zamorano R, Walker AG, Blobaum AL, Engers DW, Hopkins CR, Daniels JS, Jones CK, Lindsley CW, Xiang Z, Conn PJ, Niswender CM. {{mGlu7 potentiation rescues cognitive, social, and respiratory phenotypes in a mouse model of Rett syndrome}}. {Sci Transl Med};2017 (Aug 16);9(403)
Rett syndrome (RTT) is a neurodevelopmental disorder caused by mutations in the methyl-CpG binding protein 2 (MECP2) gene. The cognitive impairments seen in mouse models of RTT correlate with deficits in long-term potentiation (LTP) at Schaffer collateral (SC)-CA1 synapses in the hippocampus. Metabotropic glutamate receptor 7 (mGlu7) is the predominant mGlu receptor expressed presynaptically at SC-CA1 synapses in adult mice, and its activation on GABAergic interneurons is necessary for induction of LTP. We demonstrate that pathogenic mutations in MECP2 reduce mGlu7 protein expression in brain tissue from RTT patients and in MECP2-deficient mouse models. In rodents, this reduction impairs mGlu7-mediated control of synaptic transmission. We show that positive allosteric modulation of mGlu7 activity restores LTP and improves contextual fear learning, novel object recognition, and social memory. Furthermore, mGlu7 positive allosteric modulation decreases apneas in Mecp2+/- mice, suggesting that mGlu7 may be a potential therapeutic target for multiple aspects of the RTT phenotype.
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10. Kana RK, Sartin EB, Stevens C, Jr., Deshpande HD, Klein C, Klinger MR, Klinger LG. {{Corrigendum to: Neural networks underlying language and social cognition during self-other processing in autism spectrum disorders [Neuropsychologia 102 (2017) 116-123]}}. {Neuropsychologia};2017 (Aug 11)
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11. Li B, Sharma A, Meng J, Purushwalkam S, Gowen E. {{Applying machine learning to identify autistic adults using imitation: An exploratory study}}. {PLoS One};2017;12(8):e0182652.
Autism spectrum condition (ASC) is primarily diagnosed by behavioural symptoms including social, sensory and motor aspects. Although stereotyped, repetitive motor movements are considered during diagnosis, quantitative measures that identify kinematic characteristics in the movement patterns of autistic individuals are poorly studied, preventing advances in understanding the aetiology of motor impairment, or whether a wider range of motor characteristics could be used for diagnosis. The aim of this study was to investigate whether data-driven machine learning based methods could be used to address some fundamental problems with regard to identifying discriminative test conditions and kinematic parameters to classify between ASC and neurotypical controls. Data was based on a previous task where 16 ASC participants and 14 age, IQ matched controls observed then imitated a series of hand movements. 40 kinematic parameters extracted from eight imitation conditions were analysed using machine learning based methods. Two optimal imitation conditions and nine most significant kinematic parameters were identified and compared with some standard attribute evaluators. To our knowledge, this is the first attempt to apply machine learning to kinematic movement parameters measured during imitation of hand movements to investigate the identification of ASC. Although based on a small sample, the work demonstrates the feasibility of applying machine learning methods to analyse high-dimensional data and suggest the potential of machine learning for identifying kinematic biomarkers that could contribute to the diagnostic classification of autism.
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12. Muscatelli F, Desarmenien MG, Matarazzo V, Grinevich V. {{Oxytocin Signaling in the Early Life of Mammals: Link to Neurodevelopmental Disorders Associated with ASD}}. {Curr Top Behav Neurosci};2017 (Aug 16)
Oxytocin plays a role in various functions including endocrine and immune functions but also parent-infant bonding and social interactions. It might be considered as a main neuropeptide involved in mediating the regulation of adaptive interactions between an individual and his/her environment. Recently, a critical role of oxytocin in early life has been revealed in sensory processing and multi-modal integration that are essential for normal postnatal neurodevelopment. An early alteration in the oxytocin-system may disturb its maturation and may have short-term and long-term pathological consequences such as autism spectrum disorders. Here, we will synthesize the existing literature on the development of the oxytocin system and its role in the early postnatal life of mammals (from birth to weaning) in a normal or pathological context. Oxytocin is required in critical windows of time that play a pivotal role and that should be considered for therapeutical interventions.
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13. Na ES, De Jesus-Cortes H, Martinez-Rivera A, Kabir ZD, Wang J, Ramesh V, Onder Y, Rajadhyaksha AM, Monteggia LM, Pieper AA. {{D-cycloserine improves synaptic transmission in an animal mode of Rett syndrome}}. {PLoS One};2017;12(8):e0183026.
Rett syndrome (RTT), a leading cause of intellectual disability in girls, is predominantly caused by mutations in the X-linked gene MECP2. Disruption of Mecp2 in mice recapitulates major features of RTT, including neurobehavioral abnormalities, which can be reversed by re-expression of normal Mecp2. Thus, there is reason to believe that RTT could be amenable to therapeutic intervention throughout the lifespan of patients after the onset of symptoms. A common feature underlying neuropsychiatric disorders, including RTT, is altered synaptic function in the brain. Here, we show that Mecp2tm1.1Jae/y mice display lower presynaptic function as assessed by paired pulse ratio, as well as decreased long term potentiation (LTP) at hippocampal Schaffer-collateral-CA1 synapses. Treatment of Mecp2tm1.1Jae/y mice with D-cycloserine (DCS), an FDA-approved analog of the amino acid D-alanine with antibiotic and glycinergic activity, corrected the presynaptic but not LTP deficit without affecting deficient hippocampal BDNF levels. DCS treatment did, however, partially restore lower BDNF levels in the brain stem and striatum. Thus, treatment with DCS may mitigate the severity of some of the neurobehavioral symptoms experienced by patients with Rett syndrome.
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14. Parsons D, Cordier R, Vaz S, Lee HC. {{Parent-Mediated Intervention Training Delivered Remotely for Children With Autism Spectrum Disorder Living Outside of Urban Areas: Systematic Review}}. {J Med Internet Res};2017 (Aug 14);19(8):e198.
BACKGROUND: Parent training programs for families living outside of urban areas can be used to improve the social behavior and communication skills in children with autism spectrum disorder (ASD). However, no review has been conducted to investigate these programs. OBJECTIVE: The aim of this study was to (1) systematically review the existing evidence presented by studies on parent-mediated intervention training, delivered remotely for parents having children with ASD and living outside of urban areas; (2) provide an overview of current parent training interventions used with this population; (3) and provide an overview of the method of delivery of the parent training interventions used with this population. METHODS: Guided by the preferred reporting items for systematic reviews and meta-analyses (PRISMA) statement, we conducted a comprehensive review across 5 electronic databases (CINAHL, Embase, ERIC, PsycINFO, and Pubmed) on July 4, 2016, searching for studies investigating parent-mediated intervention training for families living outside of urban centers who have a child diagnosed with ASD. Two independent researchers reviewed the articles for inclusion, and assessment of methodological quality was based on the Kmet appraisal checklist. RESULTS: Seven studies met the eligibility criteria, including 2 prepost cohort studies, 3 multiple baseline studies, and 2 randomized controlled trials (RCTs). Interventions included mostly self-guided websites: with and without therapist assistance (n=6), with training videos, written training manuals, and videoconferencing. Post intervention, studies reported significant improvements (P<.05) in parent knowledge (n=4), parent intervention fidelity (n=6), and improvements in children's social behavior and communication skills (n=3). A high risk of bias existed within all of the studies because of a range of factors including small sample sizes, limited use of standardized outcome measures, and a lack of control groups to negate confounding factors. CONCLUSIONS: There is preliminary evidence that parent-mediated intervention training delivered remotely may improve parent knowledge, increase parent intervention fidelity, and improve the social behavior and communication skills for children with ASD. A low number of RCTs, difficulty in defining the locality of the population, and a paucity of standardized measures limit the generalization of the findings to the target population. Future studies should investigate the appropriateness and feasibility of the interventions, include RCTs to control for bias, and utilize standard outcome measures. Lien vers le texte intégral (Open Access ou abonnement)
15. Pop B, Niculae AS, Pop TL, Rachisan AL. {{Individuals with autism have higher 8-Iso-PGF2alpha levels than controls, but no correlation with quantitative assay of Paraoxonase 1 serum levels}}. {Metab Brain Dis};2017 (Aug 14)
Autism spectrum disorder (ASD) represents a very large set of neurodevelopmental issues with diverse clinical outcomes. Various hypotheses have been put forth for the etiology of autism spectrum disorder, including issues pertaining to oxidative stress. In this study, we conducted measurements of serum 8-Iso-Prostaglanding F2 alpha (8-iso-PGF2alpha, which is the results of non-enzimatically mediated polyunsaturated fatty acid oxidation) in a population of individuals with autism and a control group of age and sex matched controls. A quantitative assay of Paraoxonase 1 (PON1) was conducted. Data regarding comorbidities, structural MRI scans, medication, intelligence quotient (IQ) and Childhood Autism Rating Scale scores (CARS) were also included in our study. Our results show that patients diagnosed with autism have higher levels of 8-iso-PGF2alpha than their neurotypical counterparts. Levels of this particular metabolite, however, do not correlate with quantitative serum levels of Paraoxonase 1, which has been shown to be altered in individuals with autism. Neither 8-iso-PGF2alpha nor quantitative levels of PON1 provide any meaningful correlation with clinical or neuroimaging data in this study group. Future research should focus on providing data regarding PON 1 phenotype, in addition to standard quantitative measurements, in relation to 8-iso-PGF2alpha as well as other clinical and structural brain findings.
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16. Reinvall O, Kujala T, Voutilainen A, Moisio AL, Lahti-Nuuttila P, Laasonen M. {{Sluggish cognitive tempo in children and adolescents with higher functioning autism spectrum disorders: Social impairments and internalizing symptoms}}. {Scand J Psychol};2017 (Aug 16)
Sluggish cognitive tempo (SCT) was introduced in 1980s in the field of attention deficit hyperactivity disorder (ADHD). Studies indicate that symptoms of SCT are separate from symptoms of ADHD and independently associated with multiple domains of functioning in clinical groups and in typical development. We assessed whether similar pattern would apply to higher functioning autism spectrum disorders (ASD). Children with higher functioning ASD (N = 55; 5-15 years) were divided into the ASD+High SCT (n = 17), the ASD+Medium SCT (n = 18) and the ASD+Low SCT (n = 20) groups based on parent-rated daydreaming and slowness on the Five to Fifteen questionnaire (FTF). The groups were compared on SCT-related impairments found in previous studies: social skills, academic functioning, psychiatric symptoms, and processing speed. Assessment methods were the FTF, the Development and Well-Being Assessment, and the Coding subtest of the WISC-III. The ADHD symptoms were statistically controlled due to the overlap between SCT and ADHD. The ASD+High SCT and ASD+Medium SCT groups were significantly more likely to have the most pronounced social impairments, and the ASD+High SCT group had significantly higher rate of internalizing disorders compared to the ASD+Low SCT group. Our results suggest that children with higher functioning ASD and high or medium levels of SCT symptoms could be at higher risk for psychosocial impairments than children with higher functioning ASD with low levels of SCT symptoms. Co-occurring ADHD symptoms do not explain the finding. Recognizing SCT symptoms in higher functioning ASD would be important to targeting preventive support.
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17. Sheppard JJ, Malandraki GA, Pifer P, Cuff J, Troche M, Hemsley B, Balandin S, Mishra A, Hochman R. {{Validation of the Choking Risk Assessment and Pneumonia Risk Assessment for adults with Intellectual and Developmental Disability (IDD)}}. {Res Dev Disabil};2017 (Aug 16);69:61-76.
BACKGROUND: Risk assessments are needed to identify adults with intellectual and developmental disability (IDD) at high risk of choking and pneumonia. AIM: To describe the development and validation of the Choking Risk Assessment (CRA) and the Pneumonia Risk Assessment (PRA) for adults with IDD. METHODS: Test items were identified through literature review and focus groups. Five-year retrospective chart reviews identified a positive choking group (PCG), a negative choking group (NCG), a positive pneumonia group (PPG), and a negative pneumonia group (NPG). Participants were tested with the CRA and PRA by clinicians blind to these testing conditions. RESULTS: The CRA and PRA differentiated the PCG (n=93) from the NCG (n=526) and the PPG (n=63) from the NPG (n=209) with high specificity (0.91 and 0.92 respectively) and moderate to average sensitivity (0.53 and 0.62 respectively). Further analyses revealed associations between clinical diagnoses of dysphagia and choking (p=0.043), and pneumonia (p<0.001). CONCLUSIONS: The CRA and PRA are reliable, valid risk indicators for choking and pneumonia in adults with IDD. Precautions for mitigating choking and pneumonia risks can be applied selectively thus avoiding undue impacts on quality of life and unnecessary interventions for low risk individuals. Lien vers le texte intégral (Open Access ou abonnement)
18. Singal D, Chateau D, Brownell M. {{Prenatal Antidepressant Use and Autism Spectrum Disorder}}. {Jama};2017 (Aug 15);318(7):664-665.
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19. Soltani A, Lebrun S, Carpentier G, Zunino G, Chantepie S, Maiza A, Bozzi Y, Desnos C, Darchen F, Stettler O. {{Increased signaling by the autism-related Engrailed-2 protein enhances dendritic branching and spine density, alters synaptic structural matching, and exaggerates protein synthesis}}. {PLoS One};2017;12(8):e0181350.
Engrailed 1 (En1) and 2 (En2) code for closely related homeoproteins acting as transcription factors and as signaling molecules that contribute to midbrain and hindbrain patterning, to development and maintenance of monoaminergic pathways, and to retinotectal wiring. En2 has been suggested to be an autism susceptibility gene and individuals with autism display an overexpression of this homeogene but the mechanisms remain unclear. We addressed in the present study the effect of exogenously added En2 on the morphology of hippocampal cells that normally express only low levels of Engrailed proteins. By means of RT-qPCR, we confirmed that En1 and En2 were expressed at low levels in hippocampus and hippocampal neurons, and observed a pronounced decrease in En2 expression at birth and during the first postnatal week, a period characterized by intense synaptogenesis. To address a putative effect of Engrailed in dendritogenesis or synaptogenesis, we added recombinant En1 or En2 proteins to hippocampal cell cultures. Both En1 and En2 treatment increased the complexity of the dendritic tree of glutamatergic neurons, but only En2 increased that of GABAergic cells. En1 increased the density of dendritic spines both in vitro and in vivo. En2 had similar but less pronounced effect on spine density. The number of mature synapses remained unchanged upon En1 treatment but was reduced by En2 treatment, as well as the area of post-synaptic densities. Finally, both En1 and En2 elevated mTORC1 activity and protein synthesis in hippocampal cells, suggesting that some effects of Engrailed proteins may require mRNA translation. Our results indicate that Engrailed proteins can play, even at low concentrations, an active role in the morphogenesis of hippocampal cells. Further, they emphasize the over-regulation of GABA cell morphology and the vulnerability of excitatory synapses in a pathological context of En2 overexpression.
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20. Travers H. {{Embracing a Deep Peace in My Soul: The Father of Autism and Treatment of the Insane in South Dakota}}. {S D Med};2016 (Nov);69(11):499-509.
21. Ueda K, Sood S, Asano E, Kumar A, Luat AF. {{Elimination of medically intractable epileptic drop attacks following endoscopic total corpus callosotomy in Rett syndrome}}. {Childs Nerv Syst};2017 (Aug 16)
INTRODUCTION: Rett syndrome is a neurodevelopmental genetic disorder, characterized by developmental delay, hand stereotypies, abnormal gait, and acquired microcephaly. Epilepsy is very common in Rett syndrome and can be medically intractable. It remains uncertain if a patient with epileptic drop attacks associated with this genetic disease can benefit from corpus callosotomy. CASE REPORT: We report an 8-year-old girl with Rett syndrome and medically intractable epileptic drop attacks who underwent endoscopic total corpus callosotomy without any complications that led to the successful elimination of her seizures. CONCLUSION: Total corpus callosotomy is a feasible treatment option for medically intractable epileptic drop attacks in Rett syndrome and should not be considered as a contraindication in this condition. This is the first reported case of corpus callosotomy in Rett syndrome.
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22. Vigod SN, Gomes T, Ray JG. {{Prenatal Antidepressant Use and Autism Spectrum Disorder-Reply}}. {Jama};2017 (Aug 15);318(7):665.
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23. Volden J, Dodd E, Engel K, Smith IM, Szatmari P, Fombonne E, Zwaigenbaum L, Mirenda P, Bryson S, Roberts W, Vaillancourt T, Waddell C, Elsabbagh M, Bennett T, Georgiades S, Duku E. {{Beyond Sentences: Using the Expression, Reception, and Recall of Narratives Instrument to Assess Communication in School-Aged Children With Autism Spectrum Disorder}}. {J Speech Lang Hear Res};2017 (Aug 16);60(8):2228-2240.
Purpose: Impairments in the social use of language are universal in autism spectrum disorder (ASD), but few standardized measures evaluate communication skills above the level of individual words or sentences. This study evaluated the Expression, Reception, and Recall of Narrative Instrument (ERRNI; Bishop, 2004) to determine its contribution to assessing language and communicative impairment beyond the sentence level in children with ASD. Method: A battery of assessments, including measures of cognition, language, pragmatics, severity of autism symptoms, and adaptive functioning, was administered to 74 8- to 9-year-old intellectually able children with ASD. Results: Average performance on the ERRNI was significantly poorer than on the Clinical Evaluation of Language Fundamentals-Fourth Edition (CELF-4). In addition, ERRNI scores reflecting the number and quality of relevant story components included in the participants’ narratives were significantly positively related to scores on measures of nonverbal cognitive skill, language, and everyday adaptive communication, and significantly negatively correlated with the severity of affective autism symptoms. Conclusion: Results suggest that the ERRNI reveals discourse impairments that may not be identified by measures that focus on individual words and sentences. Overall, the ERRNI provides a useful measure of communicative skill beyond the sentence level in school-aged children with ASD.
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24. Yang SY, Kim SA, Hur GM, Park M, Park JE, Yoo HJ. {{Replicative genetic association study between functional polymorphisms in AVPR1A and social behavior scales of autism spectrum disorder in the Korean population}}. {Mol Autism};2017;8:44.
BACKGROUND: Arginine vasopressin has been shown to affect social and emotional behaviors, which is mediated by the arginine vasopressin receptor (AVPR1A). Genetic polymorphisms in the AVPR1A promoter region have been identified to be associated with susceptibility to social deficits in autism spectrum disorder (ASD). We hypothesize that alleles of polymorphisms in the promoter region of AVPR1A may differentially interact with certain transcriptional factors, which in turn affect quantitative traits, such as sociality, in children with autism. METHODS: We performed an association study between ASD and polymorphisms in the AVPR1A promoter region in the Korean population using a family-based association test (FBAT). We evaluated the correlation between genotypes and the quantitative traits that are related to sociality in children with autism. We also performed a promoter assay in T98G cells and evaluated the binding affinities of transcription factors to alleles of rs7294536. RESULTS: The polymorphisms-RS1, RS3, rs7294536, and rs10877969-were analyzed. Under the dominant model, RS1-310, the shorter allele, was preferentially transmitted. The FBAT showed that the rs7294536 A allele was also preferentially transmitted in an additive and dominant model under the bi-allelic mode. When quantitative traits were used in the FBAT, rs7294536 and rs10877969 were statistically significant in all genotype models and modes. Luciferase and electrophoretic mobility-shift assays suggest that the rs7294536 A/G allele results in a Nf-kappaB binding site that exhibits differential binding affinities depending on the allele. CONCLUSION: These results demonstrate that polymorphisms in the AVPR1A promoter region might be involved in pathophysiology of ASD and in functional regulation of the expression of AVPR1A.
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25. Zhang N, Peng Z, Tong X, Lindemeyer AK, Cetina Y, Huang CS, Olsen RW, Otis TS, Houser CR. {{Decreased surface expression of the delta subunit of the GABAA receptor contributes to reduced tonic inhibition in dentate granule cells in a mouse model of fragile X syndrome}}. {Exp Neurol};2017 (Aug 16);297:168-178.
While numerous changes in the GABA system have been identified in models of Fragile X Syndrome (FXS), alterations in subunits of the GABAA receptors (GABAARs) that mediate tonic inhibition are particularly intriguing. Considering the key role of tonic inhibition in controlling neuronal excitability, reduced tonic inhibition could contribute to FXS-associated disorders such as hyperactivity, hypersensitivity, and increased seizure susceptibility. The current study has focused on the expression and function of the delta subunit of the GABAAR, a major subunit involved in tonic inhibition, in granule cells of the dentate gyrus in the Fmr1 knockout (KO) mouse model of FXS. Electrophysiological studies of dentate granule cells revealed a marked, nearly four-fold, decrease in tonic inhibition in the Fmr1 KO mice, as well as reduced effects of two delta subunit-preferring pharmacological agents, THIP and DS2, supporting the suggestion that delta subunit-containing GABAARs are compromised in the Fmr1 KO mice. Immunohistochemistry demonstrated a small but statistically significant decrease in delta subunit labeling in the molecular layer of the dentate gyrus in Fmr1 KO mice compared to wildtype (WT) littermates. The discrepancy between the large deficits in GABA-mediated tonic inhibition in granule cells in the Fmr1 KO mice and only modest reductions in immunolabeling of the delta subunit led to studies of surface expression of the delta subunit. Cross-linking experiments followed by Western blot analysis demonstrated a small, non-significant decrease in total delta subunit protein in the hippocampus of Fmr1 KO mice, but a four-fold decrease in surface expression of the delta subunit in these mice. No significant changes were observed in total or surface expression of the alpha4 subunit protein, a major partner of the delta subunit in the forebrain. Postembedding immunogold labeling for the delta subunit demonstrated a large, three-fold, decrease in the number of symmetric synapses with immunolabeling at perisynaptic locations in Fmr1 KO mice. While alpha4 immunogold particles were also reduced at perisynaptic locations in the Fmr1 KO mice, the labeling was increased at synaptic sites. Together these findings suggest that, in the dentate gyrus, altered surface expression of the delta subunit, rather than a decrease in delta subunit expression alone, could be limiting delta subunit-mediated tonic inhibition in this model of FXS. Finding ways to increase surface expression of the delta subunit of the GABAAR could be a novel approach to treatment of hyperexcitability-related alterations in FXS.
