1. {{Children with autism spectrum disorders in emergency care}}. {Emerg Nurse};2016 (Jun 10);24(3):17.
In the US, an estimated one in 88 children aged eight has an autistic spectrum disorder. The increased psychiatric comorbidity of 72% of these children also leads to admissions for psychiatric or behavioural problems.
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2. Akers JS, Higbee TS, Pollard JS, Pellegrino AJ, Gerencser KR. {{An evaluation of photographic activity schedules to increase independent playground skills in young children with autism}}. {J Appl Behav Anal};2016 (Jun 10)
We used photographic activity schedules to increase the number of play activities completed by children with autism during unstructured time on the playground. All 3 participants engaged in more playground activities during and after training, and they continued to complete activities when novel photographs were introduced.
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3. Belisle J, Dixon MR, Stanley CR, Munoz B, Daar JH. {{Teaching foundational perspective-taking skills to children with autism using the PEAK-T curriculum: single-reversal « I-You » deictic frames}}. {J Appl Behav Anal};2016 (Jun 9)
We taught basic perspective-taking tasks to 3 children with autism and evaluated their ability to derive mutually entailed single-reversal deictic relations of those newly established perspective-taking skills. Furthermore, we examined the possibility of transfers of perspective-taking function to novel untrained stimuli. The methods were taken from the PEAK-T training curriculum, and results yielded positive gains for all 3 children to learn basic perspective taking as well as for 2 of the 3 to derive untrained single-reversal I relations following direct training of single-reversal You relations. All participants demonstrated a transfer of stimulus function to untrained stimuli after the single-reversal deictic relations had been mastered.
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4. Bishop SL, Huerta M, Gotham K, Alexandra Havdahl K, Pickles A, Duncan A, Hus Bal V, Croen L, Lord C. {{The autism symptom interview, school-age: A brief telephone interview to identify autism spectrum disorders in 5-to-12-year-old children}}. {Autism Res};2016 (Jun 10)
This study reports on the initial validation of the Autism Symptom Interview (ASI), School-Age, a brief (15-20 min) phone interview derived from questions from the Autism Diagnostic Interview-Revised (ADI-R). The ASI, School-Age was administered by interviewers with minimal training to parents of children ages 5 to 12 who had all been previously identified with (or referred for assessment of) ASD or another neurodevelopmental disorder. Children then underwent a comprehensive assessment to determine a best-estimate clinical diagnosis of ASD (n = 159) or non-ASD (e.g. language disorder, intellectual disability, ADHD; n = 130). Clinicians who conducted the assessments were blind to ASI results. ROC analyses compared ASI scores to clinical diagnosis. Due to the small number of participants with non-ASD diagnoses who were classified as nonverbal (i.e. not yet using phrases on a daily basis), it was not possible to assess sensitivity and specificity of the nonverbal algorithm in this sample. The verbal algorithm yielded a sensitivity of 0.87 (95% CI = 0.81-0.92) and a specificity of 0.62 (95% CI = 0.53-0.70). When used in conjunction with the Autism Diagnostic Observation Schedule (ADOS), sensitivity and specificity were 0.82 (95% CI = 0.74-0.88) and 0.92 (95% CI = 0.86-0.96), respectively. Internal consistency and test-retest reliability were both excellent. Particularly for verbal school age children, the ASI may serve as a useful tool to more quickly ascertain or classify children with ASD for research or clinical triaging purposes. Additional data collection is underway to determine the utility of the ASI in children who are younger and/or nonverbal. Autism Res 2016. (c) 2016 International Society for Autism Research, Wiley Periodicals, Inc.
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5. Botta-Orfila T, Tartaglia GG, Michalon A. {{Molecular Pathophysiology of Fragile X-Associated Tremor/Ataxia Syndrome and Perspectives for Drug Development}}. {Cerebellum};2016 (Jun 8)
Fragile X-associated tremor/ataxia syndrome (FXTAS) is an inherited neurodegenerative disorder manifesting in carriers of 55 to 200 CGG repeats in the 5′ untranslated region (UTR) of the fragile X mental retardation gene (FMR1). FXTAS is characterized by enhanced FMR1 transcription and the accumulation of CGG repeat-containing FMR1 messenger RNA in nuclear foci, while the FMRP protein expression levels remain normal or moderately low. The neuropathological hallmark in FXTAS is the presence of intranuclear, ubiquitin-positive inclusions that also contain FMR1 transcript. Yet, the complete protein complement of FXTAS inclusions and the molecular events that trigger neuronal death in FXTAS remain unclear. In this review, we present the two most accepted toxicity mechanisms described so far, namely RNA gain-of-function and protein gain-of-function by means of repeat-associated non-AUG translation, and discuss current experimental and computational strategies to better understand FXTAS pathogenesis. Finally, we review the current perspectives for drug development with disease-modifying potential for FXTAS.
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6. Bulut MO, Yucel IK, Kucuk M, Balli S, Basar EZ, Celebi A. {{Initial Experience with the Nit-Occlud ASD-R: Short-Term Results}}. {Pediatr Cardiol};2016 (Jun 9)
We aim to assess the safety, feasibility and efficacy of the new Nit-Occlud ASD-R (NOASD-R) device. From 2014 to 2015, transcatheter closure of atrial septal defect (ASD) using the NOASD-R was performed in 30 consecutive patients. The standard deployment technique as the left upper pulmonary vein approach was used in 25 patients. Right upper pulmonary vein approach was required in five. The median age was 6 years (range 3.5-60 years), and median weight was 21.5 kg (14-79 kg). Implantation was successful in all patients. The median size of devices was 16 mm (12.0-26.0 mm). The mean device size/2D defect diameter ratio was 1.26 +/- 0.09 (1.12-1.40). The mean device size/color flow diameter ratio was 1.07 +/- 0.06 (range 1.0-1.22). Releasing problem was encountered in three patients. A device-related erosion on the day after the closure was observed in one patient. No further device-related complication (erosion, embolization or dislodgement of the device) was encountered in a median follow-up period of 10 months (range 2-14 months). Complete occlusion has occurred in all at follow-up. NOASD-R is a feasible and effective device for use in the transcatheter occlusion of moderate to large secundum ASDs in selected patients. The occurrence of the erosion on the right atrial roof may be due to the high localization of the device and the larger size of the right disk.
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7. Canfield AR, Eigsti IM, de Marchena A, Fein D. {{Story Goodness in Adolescents With Autism Spectrum Disorder (ASD) and in Optimal Outcomes From ASD}}. {J Speech Lang Hear Res};2016 (Jun 9):1-13.
Purpose: This study examined narrative quality of adolescents with autism spectrum disorder (ASD) using a well-studied « story goodness » coding system. Method: Narrative samples were analyzed for distinct aspects of story goodness and rated by naive readers on dimensions of story goodness, accuracy, cohesiveness, and oddness. Adolescents with high-functioning ASD were compared with adolescents with typical development (TD; n = 15 per group). A second study compared narratives from adolescents across three groups: ASD, TD, and youths with « optimal outcomes, » who were diagnosed with ASD early in development but no longer meet criteria for ASD and have typical behavioral functioning. Results: In both studies, the ASD group’s narratives had lower composite quality scores compared with peers with typical development. In Study 2, narratives from the optimal outcomes group were intermediate in scores and did not differ significantly from those of either other group. However, naive raters were able to detect qualitative narrative differences across groups. Conclusions: Findings indicate that pragmatic deficits in ASD are salient and could have clinical relevance. Furthermore, results indicate subtle differences in pragmatic language skills for individuals with optimal outcomes despite otherwise typical language skills in other domains. These results highlight the need for clinical interventions tailored to the specific deficits of these populations.
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8. Carter CJ. {{The barrier, airway particle clearance, placental and detoxification functions of autism susceptibility genes}}. {Neurochem Int};2016 (Jun 10)
Even taking problems of diagnosis into account, a five-fold increase in the incidence of autism in recent decades, in the absence of any known changes in the human gene pool suggests a strong environmental influence. Numerous pollutants have been implicated in epidemiological studies, including pesticides, heavy metals, industrial solvents, air pollutants, particulate matter, bisphenol A, phthalates and flame retardants. Many genes have been implicated in autism, some of which are directly related to detoxification processes. Many are also expressed prenatally in the frontal cortex when the effects of such toxins on neurodevelopment are most relevant. To gain access to the foetal brain, toxins must pass placental and blood/brain barriers and access to maternal or children’s blood necessitates passage across skin, airway and intestinal barriers. Literature survey of a subset of 206 genes, defined as prime autism susceptibility candidates from an Autworks/Genotator analysis, revealed that most could be related to barrier function at blood/brain, skin, intestinal, placental or other interfaces. These genes were highly enriched in proteome datasets from blood/brain and placental trophoblast barriers and many localised to skin, intestinal, lung, umbilical and placental compartments. Many were also components of the exosomal/transcytosis pathway that is involved in the transfer of compounds across cells themselves, rather than between them. Several are involved in the control of respiratory cilia that sweep mucus and noxious particles from the airways. A key role of autism susceptibility genes may thus relate to their ability to modulate the access of numerous toxins to children, and adults and, during gestation, to the developing foetal brain.
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9. Davids RC, Groen Y, Berg IJ, Tucha OM, van Balkom ID. {{Executive Functions in Older Adults With Autism Spectrum Disorder: Objective Performance and Subjective Complaints}}. {J Autism Dev Disord};2016 (Jun 8)
Although deficits in Executive Functioning (EF) are reported frequently in young individuals with Autism Spectrum Disorders (ASD), they remain relatively unexplored later in life (>50 years). We studied objective performance on EF measures (Tower of London, Zoo map, phonetic/semantic fluency) as well as subjective complaints (self- and proxy reported BRIEF) in 36 ASD and 36 typically developed individuals (n = 72). High functioning older adults with ASD reported EF-impairments in metacognition, but did not deviate in EF task performance, except for a longer execution time of the Tower of London. The need for additional time to complete daily tasks may contribute to impairments in daily life and may be correlated to a higher level of experienced EF-difficulties in ASD.
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10. Earle JF. {{An Introduction to the Psychopharmacology of Children and Adolescents With Autism Spectrum Disorder}}. {J Child Adolesc Psychiatr Nurs};2016 (Jun 9)
TOPIC: Autism spectrum disorder (ASD) is a complex neurodevelopmental disorder that requires a multidisciplinary approach to treatment. Psychopharmacology can play an important role within an array of services to help children and adolescents with ASD. PURPOSE: This article reviews the current evidence supporting the use of various psychiatric medications to treat common symptoms that often compromise functioning: severe irritability, interfering repetitive behaviors, ADHD, anxiety, depression, and sleep dysregulation. Based on the accumulating research, the article also offers practice recommendations. SOURCES: The article primarily draws on the science generated by investigators from the Research Units on Pediatric Psychopharmacology Autism Network. This body of work consists of randomized controlled trials, meta-analyses, open trials, and review articles. CONCLUSIONS: There are currently no FDA-approved medications to treat the core symptoms of ASD. Consequently, all medications, besides risperidone and aripiprazole for severe irritability, are considered off-label. Additionally, due to reduced levels of effectiveness and higher rates of side effects, more typical medications such as antidepressants and stimulants should be used with caution. However, the evidence indicates that the thoughtful use of psychiatric medication in conjunction with other interventions may be beneficial in helping children and adolescents with ASD thrive at school and home.
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11. Ghalichi F, Ghaemmaghami J, Malek A, Ostadrahimi A. {{Effect of gluten free diet on gastrointestinal and behavioral indices for children with autism spectrum disorders: a randomized clinical trial}}. {World J Pediatr};2016 (Jun 10)
BACKGROUND: Genetic and environmental factors are both responsible for the etiology of autism spectrum disorders (ASD). Although epidemiological studies have been conducted to clarify the association between restriction diets and ASD, the conclusion remains unclear. This study was undertaken to investigate the effect of gluten free diet (GFD) on gastrointestinal symptoms and behavioral indices in children with ASD. METHODS: In this randomized clinical trial, 80 children diagnosed with ASD by the Autism Diagnostic Interview-Revised (ADI-R) were assigned into GFD (n=40) and regular diet (RD) (n=40) groups for 6 weeks. At the beginning and end of the intervention, the ROME capital SHA, Cyrillic questionnaire for evaluating gastrointestinal symptoms and Gilliam Autism Rating Scale 2 questionnaire (GARS-2) for assessing psychometric properties were completed. RESULTS: Of the 80 children, 53.9% had gastrointestinal abnormalities. In the GFD group, the prevalence of gastrointestinal symptoms decreased significantly (P<0.05) after intake of GFD (40.57% vs. 17.10%) but increased insignificantly in the RD group (42.45% vs. 44.05%). GFD intervention resulted in a significant decrease in behavioral disorders (80.03+/-14.07 vs. 75.82+/-15.37, P<0.05) but an insignificant increase in the RD group (79.92+/-15.49 vs. 80.92+/-16.24). CONCLUSION: This study suggested that GFD may be effective in controlling gastrointestinal symptoms and ASD behaviors. Lien vers le texte intégral (Open Access ou abonnement)
12. Kirkovski M, Rogasch NC, Saeki T, Fitzgibbon BM, Enticott PG, Fitzgerald PB. {{Single Pulse Transcranial Magnetic Stimulation-Electroencephalogram Reveals No Electrophysiological Abnormality in Adults with High-Functioning Autism Spectrum Disorder}}. {J Child Adolesc Psychopharmacol};2016 (Jun 10)
OBJECTIVE: Neuroimaging and electrophysiological research have revealed a range of neural abnormalities in autism spectrum disorder (ASD), but a comprehensive understanding remains elusive. We utilized a novel methodology among individuals with ASD and matched controls, combining transcranial magnetic stimulation (TMS) with concurrent electroencephalogram (EEG) recording (TMS-EEG) to explore cortical function and connectivity in three sites implicated in the neuropathophysiology of ASD (dorsolateral prefrontal cortex, primary motor cortex, and temporoparietal junction). As there is evidence for neurobiological gender differences in ASD, we also examined the influence of biological sex. METHODS: TMS pulses were applied to each of the three sites (right lateralized) during 20-channel EEG recording. RESULTS: We did not identify any differences in the EEG response to TMS between ASD and control groups. This finding remained when data were stratified by sex. Nevertheless, traits and characteristics associated with ASD were correlated with the neurophysiological response to TMS. CONCLUSION: While TMS-EEG did not appear to clarify the neuropathophysiology of ASD, the relationships identified between the neurophysiological response to TMS and clinical characteristics warrant further investigation.
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13. Konac OT, Baldemir E, Inanc BB, Kara B, Topal Y, Topal H. {{The Place of Complementary Medicine in the Treatment of Autistic Children}}. {J Pharmacopuncture};2016 (Mar);19(1):28-36.
OBJECTIVES: The purpose of this study is to achieve a vision for autistic children and their parents aimed at generating interest in ideas such as « Sanitas Per Aquam » (SPA), massage and music therapy, which has begun to have widespread use and to attract attention. METHODS: This cross-sectional, descriptive study was carried out with autistic children and their parents from February to April 2015 in Mugla, Turkey. The study was began by interviewing experts in the field and by developing a suitable assessment questionnaire. In order to direct the flow of conversation between the researchers and the autisitc children and their parents, the researchers conducted semi-structured face to face interviews in a form that had been determined by using reports in the literature and the opinions of experts in the field. RESULTS: Forty two boys (84%) and eight girls (16%) with autism participated in our study. Children in the 0 horizontal line 7 age group spent long time in the bathroom (P = 0.001). Boys liked to be hugged more than girls (P = 0.01). Children ages 0 horizontal line 7 years liked bright lighting while those 15 years of age and older liked gloomy lighting (P = 0.009). Except for these statistically significant sex- and age-related differences, no other statistically significant differences were noted in the parameters of this study. Although the result was not statistically significant, more children with mild autism disorder obeyed commands like inhale or exhale (P = 0.051). CONCLUSION: Treatment for autism spectrum disorders is not yet fully possible, so many studies are being done to alleviate some symptoms and to improve the quality of life for individuals with autism and their families. As a result of our study, whether touching the areas the children want touched and listening to their favorite music are required to stimulate the brain remain as questions in our minds.
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14. Lamberti M, Siracusano R, Italiano D, Alosi N, Cucinotta F, Di Rosa G, Germano E, Spina E, Gagliano A. {{Head-to-Head Comparison of Aripiprazole and Risperidone in the Treatment of ADHD Symptoms in Children with Autistic Spectrum Disorder and ADHD: A Pilot, Open-Label, Randomized Controlled Study}}. {Paediatr Drugs};2016 (Jun 8)
BACKGROUND: Autism spectrum disorder (ASD) and attention-deficit/hyperactivity disorder (ADHD) are frequently overlapping neurodevelopmental disorders. Individuals in whom the disorders are comorbid show more severe impairment because of deficits in the processing of social situations, adaptive functioning, and executive control than individuals with either disorder alone. OBJECTIVE: This open-label pilot study aimed to evaluate and compare the efficacy and tolerability of risperidone and aripiprazole for treating ADHD symptoms in patients with both ASD and ADHD over the course of 24 weeks of treatment. METHODS: Patients (n = 44) were randomly assigned to start treatment with risperidone (22 patients) or aripiprazole (22 patients). Children were evaluated before starting treatment (T0), and after 12 weeks (T1) and 24 weeks (T2) of treatment. At each visit, specific psychiatric clinical scales were administered to assess the efficacy of the two drugs. RESULTS: The mean age was 8.4 +/- 2.9 years in the aripiprazole group and 7.8 +/- 2.3 years in the risperidone group. A total of 37 children (29 boys and 8 girls) completed the study (18 in the aripiprazole group and 19 in the risperidone group). Aripiprazole and risperidone appeared to have similar benefits in terms of efficacy and tolerability, although there were slight differences between the two drugs. Both groups showed a significant improvement in ADHD symptoms after 24 weeks of treatment (ADHD Rating Scale, Conners Parent Rating Scale-Hyperactivity, and Clinical Global Improvement-Severity Scale). No significant difference between the two drugs on any parameters at 24 weeks were found. Prolactin levels were decreased in the aripiprazole group. Both drugs were well tolerated, with no serious adverse events detected. CONCLUSIONS: Our study confirms the efficacy of both aripiprazole and risperidone in ameliorating ADHD symptoms of children also presenting with ASD.
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15. Marko D, Boege F. {{A possible link between nutritional uptake of ubiquitous topoisomerase inhibitors and autism?}}. {Int J Dev Neurosci};2016 (Jun 10)
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16. McKenzie K, Ouellette-Kuntz H, Blinkhorn A, Demore A. {{Out of School and Into Distress: Families of Young Adults with Intellectual and Developmental Disabilities in Transition}}. {J Appl Res Intellect Disabil};2016 (Jun 9)
BACKGROUND: The transition period out of the educational system can be a source of stress for parents of young adults with intellectual and developmental disabilities, as families lose the support and respite offered by schools. MATERIALS AND METHODS: Using a before and after design nested within a 24-month follow-up study of parents seeking adult developmental services for their children, parents’ perception of distress was measured using the Brief Family Distress Scale (Journal of Child and Family Studies, 20, 2011, 521) and their perception of helpfulness of formal supports was assessed using the Family Support Scale (Journal of Individual, Family, and Community Wellness, 1, 1984, 45). RESULTS: Parents reported significantly higher levels of distress after their child transitioned out of school. Employed parents and parents of a child with an autism spectrum disorder are at increased risk for distress. CONCLUSIONS: Families fare worse once their adult children are no longer in school, although this is not associated with a reduction in the perception of the helpfulness of formal supports.
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17. McKnight LM, O’Malley-Keighran MP, Carroll C. {{‘Just wait then and see what he does’: a speech act analysis of healthcare professionals’ interaction coaching with parents of children with autism spectrum disorders}}. {Int J Lang Commun Disord};2016 (Jun 9)
BACKGROUND: There is evidence indicating that parent training programmes including interaction coaching of parents of children with autism spectrum disorders (ASD) can increase parental responsiveness, promote language development and social interaction skills in children with ASD. However, there is a lack of research exploring precisely how healthcare professionals use language in interaction coaching. AIMS: To identify the speech acts of healthcare professionals during individual video-recorded interaction coaching sessions of a Hanen-influenced parent training programme with parents of children with ASD. METHODS & PROCEDURES: This retrospective study used speech act analysis. Healthcare professional participants included two speech-language therapists and one occupational therapist. Sixteen videos were transcribed and a speech act analysis was conducted to identify the form and functions of the language used by the healthcare professionals. Descriptive statistics provided frequencies and percentages for the different speech acts used across the 16 videos. OUTCOMES & RESULTS: Six types of speech acts used by the healthcare professionals during coaching sessions were identified. These speech acts were, in order of frequency: Instructing, Modelling, Suggesting, Commanding, Commending and Affirming. The healthcare professionals were found to tailor their interaction coaching to the learning needs of the parents. A pattern was observed in which more direct speech acts were used in instances where indirect speech acts did not achieve the intended response. CONCLUSIONS & IMPLICATIONS: The study provides an insight into the nature of interaction coaching provided by healthcare professionals during a parent training programme. It identifies the types of language used during interaction coaching. It also highlights additional important aspects of interaction coaching such as the ability of healthcare professionals to adjust the directness of the coaching in order to achieve the intended parental response to the child’s interaction. The findings may be used to increase the awareness of healthcare professionals about the types of speech acts used during interaction coaching as well as the manner in which coaching sessions are conducted.
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18. Prince EB, Kim ES, Wall CA, Gisin E, Goodwin MS, Simmons ES, Chawarska K, Shic F. {{The relationship between autism symptoms and arousal level in toddlers with autism spectrum disorder, as measured by electrodermal activity}}. {Autism};2016 (Jun 10)
Electrodermal activity was examined as a measure of physiological arousal within a naturalistic play context in 2-year-old toddlers (N = 27) with and without autism spectrum disorder. Toddlers with autism spectrum disorder were found to have greater increases in skin conductance level than their typical peers in response to administered play activities. In the autism spectrum disorder group, a positive relationship was observed between restrictive and repetitive behaviors and skin conductance level increases in response to mechanical toys, whereas the opposite pattern was observed for passive toys. This preliminary study is the first to examine electrodermal activity levels in toddlers with autism spectrum disorder during play-based, naturalistic settings, and it highlights the potential for electrodermal activity as a measure of individual variability within autism spectrum disorder and early development.
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19. Satoh M, Obara T, Nishigori H, Ooba N, Morikawa Y, Ishikuro M, Metoki H, Kikuya M, Mano N. {{Prescription trends in children with pervasive developmental disorders (PDD): A claims data-based study in Japan}}. {World J Pediatr};2016 (Jun 10)
BACKGROUND: The only drug approved for pervasive developmental disorders (PDD) in Japan is pimozide. Several psychotropic drugs are also prescribed for offlabel use in Japan, but details regarding their prescription and use are largely unknown. The purpose of this study was to clarify the use of drug treatment in Japanese children with PDD. METHODS: Data were extracted from claims data from the Japan Medical Data Center for children younger than 18 years of age who were newly diagnosed with PDD (International Classification of Diseases version 10 codes: F84) from 2005 to 2010 (total of 3276 patients as of 2010). The prescription rates were presented as the percentage of PDD patients who were prescribed each drug. RESULTS: Prior to 2010, the prescription rates for atypical antipsychotics, other antipsychotics, psychostimulants, all other central nervous system drugs, anticovnvulsants, non-barbiturates, and Parkinson’s disease/syndrome drugs significantly increased among the Anatomical Therapeutic Chemical classifications defined as the « nervous system » (trend PLien vers le texte intégral (Open Access ou abonnement)
20. Snow SL, Smith IM, Bird SJ, Wright AS, Chorney J. {{A call to solve the puzzle together by building an evidence base for perioperative management of children with autism spectrum disorder}}. {Paediatr Anaesth};2016 (Jul);26(7):772-773.
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21. van Amen-Hellebrekers CJ, Jansen S, Pfundt R, Schuurs-Hoeijmakers JH, Koolen DA, Marcelis CL, de Leeuw N, de Vries BB. {{Duplications of SLC1A3: Associated with ADHD and autism}}. {Eur J Med Genet};2016 (Jun 10)
We report four patients with a similar gain in 5p13.2 encompassing a single gene: SLC1A3. Behavioural problems resembling ADHD and/or autism-like features are observed which is in line with the glial glutamate transporter role of SLC1A3. We consider an association between SLC1A3 and the behavioural problems which can also be considered a contributing factor to behavioural problems in larger duplications overlapping the 5p13 microduplication syndrome region.
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22. Watanabe K. {{[Autism and Autism-associated Metabolites]}}. {Brain Nerve};2016 (Jun);68(6):623-631.
Gene-microbiota interactions are now proposed to be a special case of gene-environmental interaction. Preclinical and clinical data summarized in this article reveal that a specific serum metabolite, associated with alterations in gut microbiome composition, might have an emerging role in the onset and pathogenesis of autism. Altered level of this specified metabolite may induce perturbations in the epigenome and modulate the expression of key disease susceptible genes in neurons and their associated cells during critical periods of neurodevelopment. The gut microbiota itself is now regarded as a reservoir for environmental epigenetic factors.
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23. Zhou J, Zhang X, Ren J, Wang P, Zhang J, Wei Z, Tian Y. {{Validation of reference genes for quantitative real-time PCR in valproic acid rat models of autism}}. {Mol Biol Rep};2016 (Jun 10)
Autism is a neurodevelopmental disorder, and embryonic exposure to valproic acid (VPA) in rodents is the most frequently studied environmentally triggered autism models. Valproic acid can affect gene transcription as a histone deacetylase inhibitor, and thus may alter the expression of the most genes including reference genes. The aim of the current study is to validate suitable reference genes for quantitative real-time PCR (qPCR) quantification in prefrontal cortex and hippocampus of VPA rat models of autism. Female rats received a single intraperitoneal injection of 400 mg/kg sodium VPA at day 12.5 post-conception and controls were injected with saline. Male offspring were used to observe the expression of nine commonly used reference genes by qPCR, and the data were analyzed by four commonly used reference selection program including geNorm, BestKeeper, NormFinder and RefFinder. The results showed that VPA affected the expression of these commonly used reference genes in prefrontal cortex and hippocampus on postnatal 3, 5 weeks and 80 days, Gapdh and Actin, two very frequently used reference genes, were identified as the least stable genes in VPA group. Hprt1 was selected as the most stable gene, and Hmbs and Tbp were the optimum gene pair in prefrontal cortex and hippocampus across all VPA and controls. Problematically, the use of unstable reference genes results in calculation of different PGRN mRNA expression levels. The results suggest that selection of suitable references is critical for accurate mRNA quantification, and specifically in VPA induced rat models of autism.
