1. Bangash MA, Park JM, Melnikova T, Wang D, Jeon SK, Lee D, Syeda S, Kim J, Kouser M, Schwartz J, Cui Y, Zhao X, Speed HE, Kee SE, Tu JC, Hu JH, Petralia RS, Linden DJ, Powell CM, Savonenko A, Xiao B, Worley PF. {{Retraction Notice to: Enhanced Polyubiquitination of Shank3 and NMDA Receptor in a Mouse Model of Autism}}. {Cell};2013 (Jan 17);152(1-2):367.
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2. Bowen CN, Shillingsburg MA, Carr JE. {{The effects of the question « what do you want? « on mand training outcomes of children with autism}}. {J Appl Behav Anal};2012 (Winter);45(4):833-838.
Mands sometimes are taught using the question « What do you want? » as a supplement to the required features of the mand relation: an establishing operation and a related consequence. Although verbal prompts have been used during mand training, they also may result in undesirable stimulus control. However, no direct empirical evidence exists to support this concern. The purpose of the present study was to compare mand training with and without supplemental questions on acquisition rate and maintenance when those questions were no longer presented. The 2 training conditions did not differ substantially in their outcomes for 2 children with autism.
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3. Di Benedetto D, Di Vita G, Romano C, Lo Giudice M, Vitello GA, Zingale M, Grillo L, Castiglia L, Musumeci SA, Fichera M. {{6p22.3 deletion: report of a patient with autism, severe intellectual disability and electroencephalographic anomalies}}. {Mol Cytogenet};2013 (Jan 17);6(1):4.
ABSTRACT: BACKGROUND: The interstitial 6p deletions, involving the 6p22-p24 chromosomal region, are rare events characterized by variable phenotypes and no clear genotype-phenotype correlation has been established so far. RESULTS: High resolution array-CGH identified 1 Mb de novo interstitial deletion in 6p22.3 chromosomal region in a patient affected by severe Intellectual Disability (ID), Autism Spectrum Disorders (ASDs), and electroencephalographic anomalies. This deletion includes ATXN1, DTNBP1, JARID2 and MYLIP genes, known to play an important role in the brain, and the GMPR gene whose function in the nervous system is unknown. CONCLUSIONS: We support the suggestion that ATXN1, DTNBP1, JARID2 and MYLIP are candidate genes for the pathophysiology of ASDs and ID, and we propose that deletion of DTNBP1 and/or JARID2 contributes to the hypotonia phenotype.
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4. Ebert DH, Greenberg ME. {{Activity-dependent neuronal signalling and autism spectrum disorder}}. {Nature};2013 (Jan 17);493(7432):327-337.
Neuronal activity induces the post-translational modification of synaptic molecules, promotes localized protein synthesis within dendrites and activates gene transcription, thereby regulating synaptic function and allowing neuronal circuits to respond dynamically to experience. Evidence indicates that many of the genes that are mutated in autism spectrum disorder are crucial components of the activity-dependent signalling networks that regulate synapse development and plasticity. Dysregulation of activity-dependent signalling pathways in neurons may, therefore, have a key role in the aetiology of autism spectrum disorder.
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5. Falkmer T, Anderson K, Falkmer M, Horlin C. {{Diagnostic procedures in autism spectrum disorders: a systematic literature review}}. {Eur Child Adolesc Psychiatry};2013 (Jan 16)
At present, ‘gold standard’ diagnosis of autism spectrum disorders (ASD) is a lengthy and time consuming process that requires suitably qualified multi-disciplinary team (MDT) personnel to assess behavioural, historical, and parent-report information to determine a diagnosis. A number of different tools have been developed to assist in determination. To optimise the diagnostic procedures, the best diagnostic instruments need to be identified. This study is a systematic review addressing the accuracy, reliability, validity and utility of reported diagnostic tools and assessments. To be included in this review, studies must have (1) identified an ASD diagnostic tool; (2) investigated either diagnostic procedure or the tools or personnel required; (3) be presented in English; (4) be conducted in the Western world; (5) be one of three types of studies [adapted from Samtani et al. in Cochrane Database Syst Rev 3:1-13, 2011], viz. (a) cohort studies or cross-sectional studies, (b) randomised studies of test accuracy, (c) case-control studies. MEDLINE, PsychINFO, Scopus, EMBASE, and Cochrane Library databases were scrutinised for relevant literature published from 2000 inclusive on 20th January 2012. In total, 68 articles were included. 17 tools were assessed. However, many lacked an evidence base of high quality-independent studies. The Autism Diagnostic Interview-Revised (ADI-R) and Autism Diagnostic Observation Schedule (ADOS) stood out with the largest evidence base and highest sensitivity and specificity. When the ADI-R and ADOS were used in combination they revealed levels of accuracy very similar to the correct classification rates for the current ‘gold standard’ diagnostic procedure viz. 80.8 % for ASD. There is scope for future studies on the use of the ADI-R and ADOS in combination.
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6. Fein D, Barton M, Eigsti IM, Kelley E, Naigles L, Schultz RT, Stevens M, Helt M, Orinstein A, Rosenthal M, Troyb E, Tyson K. {{Optimal outcome in individuals with a history of autism}}. {J Child Psychol Psychiatry};2013 (Feb);54(2):195-205.
Background: Although autism spectrum disorders (ASDs) are generally considered lifelong disabilities, literature suggests that a minority of individuals with an ASD will lose the diagnosis. However, the existence of this phenomenon, as well as its frequency and interpretation, is still controversial: were they misdiagnosed initially, is this a rare event, did they lose the full diagnosis, but still suffer significant social and communication impairments or did they lose all symptoms of ASD and function socially within the normal range? Methods: The present study documents a group of these optimal outcome individuals (OO group, n = 34) by comparing their functioning on standardized measures to age, sex, and nonverbal IQ matched individuals with high-functioning autism (HFA group, n = 44) or typical development (TD group, n = 34). For this study, ‘optimal outcome’ requires losing all symptoms of ASD in addition to the diagnosis, and functioning within the nonautistic range of social interaction and communication. Domains explored include language, face recognition, socialization, communication, and autism symptoms. Results: Optimal outcome and TD groups’ mean scores did not differ on socialization, communication, face recognition, or most language subscales, although three OO individuals showed below-average scores on face recognition. Early in their development, the OO group displayed milder symptoms than the HFA group in the social domain, but had equally severe difficulties with communication and repetitive behaviors. Conclusions: Although possible deficits in more subtle aspects of social interaction or cognition are not ruled out, the results substantiate the possibility of OO from autism spectrum disorders and demonstrate an overall level of functioning within normal limits for this group.
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7. Fischetti AT, Wilder DA, Myers K, Leon-Enriquez Y, Sinn S, Rodriguez R. {{An evaluation of evidence-based interventions to increase compliance among children with autism}}. {J Appl Behav Anal};2012 (Winter);45(4):859-863.
We evaluated 4 evidence-based interventions to increase compliance. Three children with autism who exhibited noncompliance when asked to relinquish a preferred toy were exposed sequentially to interventions that included a reduction in response effort, differential reinforcement, and guided compliance. Results indicated that effort reduction alone was ineffective and that each participant’s compliance improved after exposure to a different intervention; these results highlight the need to individualize treatments for compliance.
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8. Froehlich W, Cleveland S, Torres A, Phillips J, Cohen B, Torigoe T, Miller J, Fedele A, Collins J, Smith K, Lotspeich L, Croen LA, Ozonoff S, Lajonchere C, Grether JK, Hallmayer J. {{Head Circumferences in Twins With and Without Autism Spectrum Disorders}}. {J Autism Dev Disord};2013 (Jan 16)
To determine the genetic relationship between head circumference (HC) and Autism Spectrum Disorders (ASDs). Twin pairs with at least one twin with an ASD were assessed. HCs in affected and unaffected individuals were compared, as were HC correlations in monozygotic and dizygotic pairs. 404 subjects, ages 4-18, were included. 20 % of males and 27 % of females with an ASD had macrocephaly. Unaffected co-twins showed similar rates (16 % of males and 22 % of females). Statistical analysis revealed no significant difference in HCs between affected and unaffected twins. Twins with ASDs and unaffected co-twins have similar HCs and increased rates of macrocephaly. Correlations demonstrated partial inheritance of HCs. Thus, macrocephaly may represent an endophenotype in ASDs.
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9. Gkogkas CG, Khoutorsky A, Ran I, Rampakakis E, Nevarko T, Weatherill DB, Vasuta C, Yee S, Truitt M, Dallaire P, Major F, Lasko P, Ruggero D, Nader K, Lacaille JC, Sonenberg N. {{Autism-related deficits via dysregulated eIF4E-dependent translational control}}. {Nature};2013 (Jan 17);493(7432):371-377.
Hyperconnectivity of neuronal circuits due to increased synaptic protein synthesis is thought to cause autism spectrum disorders (ASDs). The mammalian target of rapamycin (mTOR) is strongly implicated in ASDs by means of upstream signalling; however, downstream regulatory mechanisms are ill-defined. Here we show that knockout of the eukaryotic translation initiation factor 4E-binding protein 2 (4E-BP2)-an eIF4E repressor downstream of mTOR-or eIF4E overexpression leads to increased translation of neuroligins, which are postsynaptic proteins that are causally linked to ASDs. Mice that have the gene encoding 4E-BP2 (Eif4ebp2) knocked out exhibit an increased ratio of excitatory to inhibitory synaptic inputs and autistic-like behaviours (that is, social interaction deficits, altered communication and repetitive/stereotyped behaviours). Pharmacological inhibition of eIF4E activity or normalization of neuroligin 1, but not neuroligin 2, protein levels restores the normal excitation/inhibition ratio and rectifies the social behaviour deficits. Thus, translational control by eIF4E regulates the synthesis of neuroligins, maintaining the excitation-to-inhibition balance, and its dysregulation engenders ASD-like phenotypes.
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10. Hagerman RJ. {{Epilepsy drives autism in neurodevelopmental disorders}}. {Dev Med Child Neurol};2013 (Feb);55(2):101-102.
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11. Kovacs T, Kelemen O, Keri S. {{Decreased fragile X mental retardation protein (FMRP) is associated with lower IQ and earlier illness onset in patients with schizophrenia}}. {Psychiatry Res};2013 (Jan 17)
The purpose of this study was to investigate Fragile X Syndrome (FXS)-related mechanisms in schizophrenia, including CGG triplet expansion, FMR1 mRNA, and fragile X mental retardation protein (FMRP) levels in lymphocytes. We investigated 36 patients with schizophrenia and 30 healthy controls using Southern blot analysis, mRNA assay, and enzyme-linked immunosorbent assay (ELISA). General intellectual functions were assessed with the Wechsler Adult Intelligence Scale-III, and the clinical symptoms were evaluated with the Positive and Negative Syndrome Scale. Results revealed that, relative to healthy controls, CGG triplet size and FMR1 mRNA were unaltered in patients with schizophrenia. However, the FMRP level was significantly reduced in patients compared with controls. We found an association between lower FMRP levels, reduced IQ, and earlier illness onset in schizophrenia. Chlorpromazine-equivalent antipsychotic dose did not correlate with FMRP levels. These results raise the possibility of impaired translation of FMR1 mRNA, altered epigenetic regulation, or increased degradation of FMRP in schizophrenia, which may play a role in dysfunctional neurodevelopmental processes and impaired neuroplasticity.
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12. Li J, Liu J, Zhao L, Ma Y, Jia M, Lu T, Ruan Y, Li Q, Yue W, Zhang D, Wang L. {{Association study between genes in Reelin signaling pathway and autism identifies DAB1 as a susceptibility gene in a Chinese Han population}}. {Prog Neuropsychopharmacol Biol Psychiatry};2013 (Jan 17)
Autism is a pervasive neurodevelopmental disorder diagnosed in early childhood. The genetic factors might play an important role in its pathogenesis. Previous studies revealed that Reelin (RELN) polymorphisms were associated with autism. However, the roles of genes in Reelin signaling pathway for autism are largely unknown. As several knockout mice models in which the Reelin pathway genes (i.e. DAB1, VLDLR/APOER2, FYN/SRC and CRK/CRKL) are deficient have the similar phenotype as the reeler mice (Reelin(-/-)), we hypothesized that the Reelin signaling pathway genes might play roles in the etiology of autism. Therefore, we conducted a family-based association study. Sixty-two tagged single nucleotide polymorphisms (SNPs) covering 15 genes in Reelin pathway were genotyped in 239 trios, and 14 significant SNPs were further investigated in the additional 188 trios. In total 427 trios, we found significant genetic association between autism and four SNPs in DAB1 (rs12035887 G: p=0.0006; rs3738556 G: p=0.0044; rs1202773 A: p=0.0048; rs12740765 T: p=0.0196). After the Bonferroni correction, SNP rs12035887 remained significant. Furthermore, the haplotype constructed with rs1202773 and rs12023109 in DAB1 showed significant excess transmission in both individual and global haplotype analyses (p=0.0052 and 0.0279, respectively). Our findings suggested that variations in DAB1 involved in the Reelin signaling pathway might contribute to genetic susceptibility to autism with Chinese Han decent, supporting the defect in the Reelin signaling pathway as a predisposition factor for autism.
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13. Marion C, Martin GL, Yu CT, Buhler C, Kerr D, Claeys A. {{Teaching children with autism spectrum disorder to mand for information using « which? »}}. {J Appl Behav Anal};2012 (Winter);45(4):865-870.
We examined a procedure consisting of a preference assessment, prompting, contrived conditioned establishing operations, and consequences for correct and incorrect responses for teaching children with autism to mand « which? » We used a modified multiple baseline design across 3 participants. All the children learned to mand « which? » Generalization occurred to the natural environment, to a novel activity, and to a novel container; the results were maintained over time.
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14. Mathersul D, McDonald S, Rushby JA. {{Automatic facial responses to affective stimuli in high-functioning adults with autism spectrum disorder}}. {Physiol Behav};2013 (Jan 17);109:14-22.
Individuals with autism spectrum disorder (ASD) demonstrate atypical behavioural responses to affective stimuli, although the underlying mechanisms remain unclear. Investigating automatic responses to these stimuli may help elucidate these mechanisms. 18 high-functioning adults with ASDs and 18 typically developing controls viewed 54 extreme pleasant (erotica), extreme unpleasant (mutilations), and non-social neutral images from the International Affective Picture System (IAPS). Two-thirds of images received an acoustic startle probe 3s post-picture onset. Facial electromyography (EMG) activity (orbicularis, zygomaticus, corrugator), skin conductance (SCR) and cardiac responses were recorded. The adults with ASDs demonstrated typical affective startle modulation and automatic facial EMG responses but atypical autonomic (SCRs and cardiac) responses, suggesting a failure to orient to, or a deliberate effort to disconnect from, socially relevant stimuli (erotica, mutilations). These results have implications for neural systems known to underlie affective processes, including the orbitofrontal cortex and amygdala.
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15. Morhardt DR, Barrow W, Jaworski M, Accardo PJ. {{Head Circumference in Young Children With Autism: The Impact of Different Head Circumference Charts}}. {J Child Neurol};2013 (Jan 17)
The hypothesis that the presence of macrocephaly might vary with the specific growth chart used was tested by using the Nellahus, CDC, and recent Rollins et al revision head circumference charts to plot the head circumferences of 253 children with neurodevelopmental disorders and with ages between 12 to 36 months; of these children, 59 had a diagnosis of autism spectrum disorder. The CDC and Rollins et al head circumference charts identified more cases of macrocephaly and fewer cases of microcephaly than did the older Nellhaus chart but did not significantly differ in their identification of macrocephaly in children with autism.
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16. Nagai M, Bennett PJ, Rutherford MD, Gaspar CM, Kumada T, Sekuler AB. {{Comparing face processing strategies between typically-developed observers and observers with autism using sub-sampled-pixels presentation in response classification technique}}. {Vision Res};2013 (Jan 12)
In the present study we modified the standard classification image method by subsampling visual stimuli to provide us with a technique capable of examining an individual’s face-processing strategy in detail with fewer trials. Experiment 1 confirmed that one testing session (1450 trials) was sufficient to produce classification images that were qualitatively similar to those obtained previously with 10,000 trials (Sekuler et al., 2004). Experiment 2 used this method to compare classification images obtained from observers with autism spectrum disorders (ASD) and typically-developing (TD) observers. As was found in Experiment 1, classification images obtained from TD observers suggested that they all discriminated faces based on information conveyed by pixels in the eyes/brow region. In contrast, classification images obtained from ASD observers suggested that they used different perceptual strategies: three out of five ASD observers used a typical strategy of making use of information in the eye/brow region, but two used an atypical strategy that relied on information in the forehead region. The advantage of using the response classification technique is that there is no restriction to specific theoretical perspectives or a priori hypotheses, which enabled us to see unexpected strategies, like ASD’s forehead strategy, and thus showed this technique is particularly useful in the examination of special populations.
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17. Naigles LR, Kelley E, Troyb E, Fein D. {{Residual Difficulties with Categorical Induction in Children with a History of Autism}}. {J Autism Dev Disord};2013 (Jan 16)
In two experiments, typically developing (TD) children, high-functioning children with autism (HFA) and children with a history of autism who have achieved optimal outcomes (OOs), matched on age (M = 13 years) and nonverbal IQ, were asked to extend properties of categories to new items (categorical induction). All groups demonstrated some knowledge of category structure by extending at above-chance levels; however, the TD group extended more consistently than the OO and HFA groups. More consistent extenders had higher lexical and nonverbal IQ scores (Experiment 1) or higher pragmatics scores (Experiment 2). Thus, even very high functioning individuals with autism, or with an OO, still exhibit residual difficulties with category knowledge and extension; moreover, category tasks relate to a variety of verbal and nonverbal abilities. The difficulty these groups had with categorical induction may be related to their difficulty with generalization more widely; future research should investigate this possibility.
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18. Ozonoff S. {{Editorial: Recovery from autism spectrum disorder (ASD) and the science of hope}}. {J Child Psychol Psychiatry};2013 (Feb);54(2):113-114.
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19. Payne JM. {{Autism spectrum disorder symptomatology in children with neurofibromatosis type 1}}. {Dev Med Child Neurol};2013 (Feb);55(2):100-101.
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20. Richey JA, Rittenberg A, Hughes L, Damiano CR, Sabatino A, Miller S, Hanna E, Bodfish JW, Dichter GS. {{Common and distinct neural features of social and non-social reward processing in autism and social anxiety disorder}}. {Soc Cogn Affect Neurosci};2013 (Jan 17)
Autism spectrum disorders (ASDs) and social anxiety disorder (SAD) are both characterized by social dysfunction, but no study to date has compared neural responses to social rewards in ASDs and SAD. Neural responses during social and non-social reward anticipation and outcomes were examined in individuals with ASD (n = 16), SAD (n = 15) and a control group (n = 19) via functional magnetic resonance imaging. Analyses modeling all three groups revealed increased nucleus accumbens (NAc) activation in SAD relative to ASD during monetary reward anticipation, whereas both the SAD and ASD group demonstrated decreased bilateral NAc activation relative to the control group during social reward anticipation. During reward outcomes, the SAD group did not differ significantly from the other two groups in ventromedial prefrontal cortex activation to either reward type. Analyses comparing only the ASD and SAD groups revealed greater bilateral amygdala activation to social rewards in SAD relative to ASD during both anticipation and outcome phases, and the magnitude of left amygdala hyperactivation in the SAD group during social reward anticipation was significantly correlated with the severity of trait anxiety symptoms. Results suggest reward network dysfunction to both monetary and social rewards in SAD and ASD during reward anticipation and outcomes, but that NAc hypoactivation during monetary reward anticipation differentiates ASD from SAD.
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21. Santini E, Huynh TN, MacAskill AF, Carter AG, Pierre P, Ruggero D, Kaphzan H, Klann E. {{Exaggerated translation causes synaptic and behavioural aberrations associated with autism}}. {Nature};2013 (Jan 17);493(7432):411-415.
Autism spectrum disorders (ASDs) are an early onset, heterogeneous group of heritable neuropsychiatric disorders with symptoms that include deficits in social interaction skills, impaired communication abilities, and ritualistic-like repetitive behaviours. One of the hypotheses for a common molecular mechanism underlying ASDs is altered translational control resulting in exaggerated protein synthesis. Genetic variants in chromosome 4q, which contains the EIF4E locus, have been described in patients with autism. Importantly, a rare single nucleotide polymorphism has been identified in autism that is associated with increased promoter activity in the EIF4E gene. Here we show that genetically increasing the levels of eukaryotic translation initiation factor 4E (eIF4E) in mice results in exaggerated cap-dependent translation and aberrant behaviours reminiscent of autism, including repetitive and perseverative behaviours and social interaction deficits. Moreover, these autistic-like behaviours are accompanied by synaptic pathophysiology in the medial prefrontal cortex, striatum and hippocampus. The autistic-like behaviours displayed by the eIF4E-transgenic mice are corrected by intracerebroventricular infusions of the cap-dependent translation inhibitor 4EGI-1. Our findings demonstrate a causal relationship between exaggerated cap-dependent translation, synaptic dysfunction and aberrant behaviours associated with autism.
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22. Sy JR, Vollmer TR. {{Discrimination acquisition in children with developmental disabilities under immediate and delayed reinforcement}}. {J Appl Behav Anal};2012 (Winter);45(4):667-684.
We evaluated the discrimination acquisition of individuals with developmental disabilities under immediate and delayed reinforcement. In Experiment 1, discrimination between two alternatives was examined when reinforcement was immediate or delayed by 20 s, 30 s, or 40 s. In Experiment 2, discrimination between 2 alternatives was compared across an immediate reinforcement condition and a delayed reinforcement condition in which subjects could respond during the delay. In Experiment 3, discrimination among 4 alternatives was compared across immediate and delayed reinforcement. In Experiment 4, discrimination between 2 alternatives was examined when reinforcement was immediate and 0-s or 30-s intertrial intervals (ITI) were programmed. For most subjects, discrimination acquisition occurred under immediate reinforcement. However, for some subjects, introducing delays slowed or prevented discrimination acquisition under some conditions. Results from Experiment 4 suggest that longer ITIs cannot account for the lack of discrimination under delayed reinforcement.
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23. Taylor BA, Dequinzio JA, Stine J. {{Increasing observational learning of children with autism: a preliminary analysis}}. {J Appl Behav Anal};2012 (Winter);45(4):815-820.
We evaluated the effects of monitoring responses on the acquisition of sight words with 3 children with autism. In the training condition, we taught participants a vocal imitation and matching response related to a peer’s reading response. In another condition, participants were exposed only to a peer’s reading responses. Participants read the words more accurately during test sessions when the monitoring response was required. Results and discussion highlight the importance of identifying component responses of observational learning and the need for additional research in this area.
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24. Winarni TI, Utari A, Mundhofir FE, Hagerman RJ, Faradz SM. {{Fragile X Syndrome: Clinical, Cytogenetics and Molecular Screening among Autism Spectrum Disorder Children in Indonesia}}. {Clin Genet};2013 (Jan 16)
BACKGROUND: Fragile X testing is a priority in the evaluation of autism spectrum disorders (ASD) cases because identification of the FMR1 mutation leads to new treatment options. This study is focused on determining the prevalence of the FMR1 gene mutation among ASD cases in Indonesia. METHOD: DSM-IV-TR criteria were administered to diagnose ASD; symptom severity was classified using the Childhood Autism Rating Scale (CARS). Cytogenetic analysis, PCR, and Southern blot for FMR1 gene analysis were carried out to confirm the diagnosis of fragile X syndrome. RESULTS: The fragile X site and FMR1 full mutation allele were identified in 3 out of 65 (4.6%) and 4 out of 65 (6.15 %) children aged 3 to 17 years (57 boys, 8 girls) respectively. CONCLUSION: The Fragile X laboratory workup is essential in the evaluation of patients with ASD. Molecular analysis is most accurate, while cytogenetic documentation of the fragile X site can also be useful if molecular testing is not available.
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25. Yates D. {{Neurodevelopmental disorders: Overproducing autism}}. {Nat Rev Neurosci};2013 (Feb);14(2):79.
