1. {{Neurodevelopmental disorders: Epilepsy and autism spectrum disorders may have a shared aetiology}}. {Nat Rev Neurol};2016 (Jul 1)
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2. Ameis SH, Lerch JP, Taylor MJ, Lee W, Viviano JD, Pipitone J, Nazeri A, Croarkin PE, Voineskos AN, Lai MC, Crosbie J, Brian J, Soreni N, Schachar R, Szatmari P, Arnold PD, Anagnostou E. {{A Diffusion Tensor Imaging Study in Children With ADHD, Autism Spectrum Disorder, OCD, and Matched Controls: Distinct and Non-Distinct White Matter Disruption and Dimensional Brain-Behavior Relationships}}. {Am J Psychiatry};2016 (Jul 1):appiajp201615111435.
OBJECTIVE: Neurodevelopmental disorders (NDDs) (attention deficit hyperactivity disorder [ADHD], autism spectrum disorder [ASD], and obsessive-compulsive disorder [OCD]) share genetic vulnerability and symptom domains. The authors present direct comparison of structural brain circuitry in children and adolescents with NDDs and control subjects and examine brain circuit-behavior relationships across NDDs using dimensional measures related to each disorder. METHOD: Diffusion imaging and behavioral measures were acquired in 200 children and adolescents (ADHD: N=31; OCD: N=36; ASD: N=71; controls: N=62; mean age range: 10.3-12.6 years). Following Tract-Based Spatial Statistics, multigroup comparison of white matter indices was conducted, followed by pairwise comparisons. Relationships of fractional anisotropy with dimensional measures of inattention, social deficits, obsessive-compulsive symptoms, and general adaptive functioning were conducted across the NDD sample. RESULTS: Lower fractional anisotropy within the splenium of the corpus callosum was found in each NDD group, compared with the control group. Lower fractional anisotropy in additional white matter tracts was found in the ASD and ADHD groups, compared with the control group, but not in the OCD group. Fractional anisotropy was lower in the ASD and ADHD groups compared with the OCD group but was not different in ADHD participants compared with ASD participants. A positive relation between fractional anisotropy (across much of the brain) and general adaptive functioning across NDDs was shown. CONCLUSIONS: This study identified disruption in interhemispheric circuitry (i.e., fractional anisotropy alterations in the corpus callosum) as a shared feature of ASD, ADHD, and OCD. However, fractional anisotropy alterations may be more widespread and severe in ASD and ADHD than in OCD. Higher fractional anisotropy throughout the brain appears to be related to better adaptive function across NDDs.
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3. Barbaresi WJ. {{The Meaning of « Regression » in Children with Autism Spectrum Disorder: Why Does It Matter?}}. {J Dev Behav Pediatr};2016 (Jul-Aug);37(6):506-507.
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4. Boilson AM, Staines A, Ramirez A, Posada M, Sweeney MR. {{Operationalisation of the European Protocol for Autism Prevalence (EPAP) for Autism Spectrum Disorder Prevalence Measurement in Ireland}}. {J Autism Dev Disord};2016 (Jun 30)
The European Autism Information System project highlighted the lack of systematic and reliable data relating to the prevalence of autism spectrum disorders in Europe. A protocol for the study of ASD prevalence at European level was developed to facilitate a common format for screening and diagnosing children across the EU. This is the first study to operationalise and screen national school children for ASDs using this protocol. National school children 6-11 years (N = 7951) were screened males 54 % (N = 4268) females 46 % (N = 3683). Screening children for ASD implementing the EAIS protocol using the Social Communication Questionnaire (Rutter et al. in Social Communication Questionnaire (SCQ). Western Psychological Services, Los Angeles, ) as a first level screening instrument in a non-clinical setting of Irish national schools was demonstrated.
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5. Bradley CC, Boan AD, Cohen AP, Charles JM, Carpenter LA. {{Reported History of Developmental Regression and Restricted, Repetitive Behaviors in Children with Autism Spectrum Disorders}}. {J Dev Behav Pediatr};2016 (Jul-Aug);37(6):451-456.
OBJECTIVE: Previous research on developmental regression in youth with autism spectrum disorders (ASD) has often been limited by the definition, assessment, and methodology used to evaluate and describe regression. This study sought to overcome these limitations by examining the prevalence, timing, and correlates of documented cases of developmental regression in a large, epidemiological sample of youth with ASD. METHOD: Utilizing a population-based surveillance methodology, this study includes 862 youth with ASD identified through abstraction and clinician record review. RESULTS: Approximately 21% of the sample had developmental regression documented in their medical or educational records with the mean age of regression being 24.2 +/- 14.3 months. Youth with ASD and a history of regression were more likely to have comorbid intellectual disability, a prior community diagnosis of ASD, and be eligible for educational services as a student with autism. Youth with a documented history of regression also had higher rates of restricted, repetitive behaviors, such as stereotyped speech, nonfunctional routines/rituals, and sensory interests. CONCLUSION: Results suggest that youth with a history of regression are not only more likely to have comorbid intellectual disability but are also are more likely to have been previously diagnosed with ASD in the community, suggesting that development regression may play an important role in identifying children who are at the risk for ASD and need evaluation. Higher rates of restricted, repetitive behaviors in youth with a documented history of regression may also provide important insights into the relationship between ASD and developmental regression.
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6. Chakrabotri B, Verma D, Karmakar A, Jaiswal P, Sanyal A, Paul D, Sinha S, Singh AS, Guhathakurta S, Roychowdhury A, Panda CK, Ghosh S, Mohanakumar KP, Mukhophadhyay K, Rajamma U. {{Genetic variants of MAOB affect serotonin level and specific behavioral attributes to increase autism spectrum disorder (ASD) susceptibility in males}}. {Prog Neuropsychopharmacol Biol Psychiatry};2016 (Jul 2)
Serotonergic system participates in various developmental processes and modulation of behaviour. Autism Spectrum Disorder (ASD) is characterized by a range of behavioral symptoms scaling from mild to severe. Abnormal 5-HT synthesis and signalling, platelet hyperserotonemia and amelioration of repetitive behaviours by SSRI are some of the key findings, which reinforced the hypothesis that serotonergic genes might act as ASD susceptible genes. Therefore, genes encoding monoamine oxidases A/B (MAOA/MAOB) received special attention as these genes are located on the X-chromosome and the gene products are responsible for 5-HT degradation. In the present study, we conducted population-based association analysis of eight markers of MAOB with ASD in a study cohort of 203 cases and 236 controls form India and examined its effect on platelet 5-HT content and behaviour. Gender-specific changes were observed for the contrasting LD between pair of markers among cases and controls. Case-control analysis demonstrated over-distribution of major C allele of rs2283728 and rs2283727 in male and female ASD cases respectively. Haplotypic distribution and interaction among markers showed more robust effect in male cases. Interestingly, male ASD cases displayed higher platelet 5-HT content in comparison to the respective controls. Quantitative trait analysis revealed significant correlation of genetic variants and haplotypes of MAOB markers, rs1799836 and rs6324 with increased platelet 5-HT level and CARS scores for specific behavioral symptoms respectively in males. This study suggests that MAOB increases ASD risk in males, possibly through its sex-specific regulatory effect on 5-HT metabolism and behavior.
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7. Debrey SM, Leehey MA, Klepitskaya O, Filley CM, Shah RC, Kluger B, Berry-Kravis E, Spector E, Tassone F, Hall DA. {{Clinical Phenotype of Adult Fragile X Gray Zone Allele Carriers: a Case Series}}. {Cerebellum};2016 (Jul 2)
Considerable research has focused on patients with trinucleotide (CGG) repeat expansions in the fragile X mental retardation 1 (FMR1) gene that fall within either the full mutation (>200 repeats) or premutation range (55-200 repeats). Recent interest in individuals with gray zone expansions (41-54 CGG repeats) has grown due to reported phenotypes that are similar to those observed in premutation carriers, including neurological, molecular, and cognitive signs. The purpose of this manuscript is to describe a series of adults with FMR1 alleles in the gray zone presenting with movement disorders or memory loss. Gray zone carriers ascertained in large FMR1 screening studies were identified and their clinical phenotypes studied. Thirty-one gray zone allele carriers were included, with mean age of symptom onset of 53 years in patients with movement disorders and 57 years in those with memory loss. Four patients were chosen for illustrative case reports and had the following diagnoses: early-onset Parkinson disease (PD), atypical parkinsonism, dementia, and atypical essential tremor. Some gray zone carriers presenting with parkinsonism had typical features, including bradykinesia, rigidity, and a positive response to dopaminergic medication. These patients had a higher prevalence of peripheral neuropathy and psychiatric complaints than would be expected. The patients seen in memory clinics had standard presentations of cognitive impairment with no apparent differences. Further studies are necessary to determine the associations between FMR1 expansions in the gray zone and various phenotypes of neurological dysfunction.
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8. Devescovi R, Monasta L, Mancini A, Bin M, Vellante V, Carrozzi M, Colombi C. {{Early diagnosis and Early Start Denver Model intervention in autism spectrum disorders delivered in an Italian Public Health System service}}. {Neuropsychiatr Dis Treat};2016;12:1379-1384.
BACKGROUND: Early diagnosis combined with an early intervention program, such as the Early Start Denver Model (ESDM), can positively influence the early natural history of autism spectrum disorders. This study evaluated the effectiveness of an early ESDM-inspired intervention, in a small group of toddlers, delivered at low intensity by the Italian Public Health System. METHODS: Twenty-one toddlers at risk for autism spectrum disorders, aged 20-36 months, received 3 hours/wk of one-to-one ESDM-inspired intervention by trained therapists, combined with parents’ and teachers’ active engagement in ecological implementation of treatment. The mean duration of treatment was 15 months. Cognitive and communication skills, as well as severity of autism symptoms, were assessed by using standardized measures at pre-intervention (Time 0 [T0]; mean age =27 months) and post-intervention (Time 1 [T1]; mean age =42 months). RESULTS: Children made statistically significant improvements in the language and cognitive domains, as demonstrated by a series of nonparametric Wilcoxon tests for paired data. Regarding severity of autism symptoms, younger age at diagnosis was positively associated with greater improvement at post-assessment. CONCLUSION: Our results are consistent with the literature that underlines the importance of early diagnosis and early intervention, since prompt diagnosis can reduce the severity of autism symptoms and improve cognitive and language skills in younger children. Particularly in toddlers, it seems that an intervention model based on the ESDM principles, involving the active engagement of parents and nursery school teachers, may be effective even when the individual treatment is delivered at low intensity. Furthermore, our study supports the adaptation and the positive impact of the ESDM entirely sustained by the Italian Public Health System.
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9. Djukic A, Holtzer R, Shinnar S, Muzumdar H, Rose SA, Mowrey W, Galanopoulou AS, Shinnar R, Jankowski JJ, Feldman JF, Pillai S, Moshe SL. {{Pharmacologic Treatment of Rett Syndrome With Glatiramer Acetate}}. {Pediatr Neurol};2016 (May 27)
BACKGROUND: Rett syndrome (RTT) is a severe neurological disease that primarily affects females. The level of brain derived neurotropic factor (BDNF) expression directly correlates with the severity of RTT related symptoms. Because Glatiramer acetate (GA) stimulates secretion of BDNF in the brain, we conducted the study with the objective to assess its efficacy in improving gait velocity cognition, respiratory function, electroencephalographic findings, and quality of life in patients with RTT. METHODS: Phase two, open label, single center trial. INCLUSION CRITERIA: ambulatory girls with genetically confirmed RTT, 10 years or older. Pre- and post-treatment measures were compared using the non-parametric Wilcoxon signed rank sum test and paired t-tests. RESULTS: Ten patients were enrolled and completed the trial. Gait velocity improved significantly (improvement range 13%-95%, p=0.03 for both tests) and emerged as an especially valuable outcome measure with excellent test- retest reliability of the 2 trials within sessions (intraclass correlation coefficient=0.94). Memory, and the breath holding index also improved significantly (pLien vers le texte intégral (Open Access ou abonnement)
10. Doernberg E, Hollander E. {{Neurodevelopmental Disorders (ASD and ADHD): DSM-5, ICD-10, and ICD-11}}. {CNS Spectr};2016 (Jul 1):1-5.
Neurodevelopmental disorders, specifically autism spectrum disorder (ASD) and attention-deficit/hyperactivity disorder (ADHD) have undergone considerable diagnostic evolution in the past decade. In the United States, the current system in place is the Diagnostic and Statistical Manual of Mental Disorders, Fifth Edition (DSM-5), whereas worldwide, the International Statistical Classification of Diseases and Related Health Problems, Tenth Revision (ICD-10) serves as a general medical system. This review will examine the differences in neurodevelopmental disorders between these two systems. First, we will review the important revisions made from the Diagnostic and Statistical Manual of Mental Disorders, Fourth Edition, Text Revision (DSM-IV-TR) to the DSM-5, with respect to ASD and ADHD. Next, we will cover the similarities and differences between ASD and ADHD classification in the DSM-5 and the ICD-10, and how these differences may have an effect on neurodevelopmental disorder diagnostics and classification. By examining the changes made for the DSM-5 in 2013, and critiquing the current ICD-10 system, we can help to anticipate and advise on the upcoming ICD-11, due to come online in 2017. Overall, this review serves to highlight the importance of progress towards complementary diagnostic classification systems, keeping in mind the difference in tradition and purpose of the DSM and the ICD, and that these systems are dynamic and changing as more is learned about neurodevelopmental disorders and their underlying etiology. Finally this review will discuss alternative diagnostic approaches, such as the Research Domain Criteria (RDoC) initiative, which links symptom domains to underlying biological and neurological mechanisms. The incorporation of new diagnostic directions could have a great effect on treatment development and insurance coverage for neurodevelopmental disorders worldwide.
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11. Gaitanis J. {{Deep brain stimulation for autism spectrum disorders}}. {Neurosurg Focus};2016 (Jul);41(1):E12.
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12. Gonthier C, Longuepee L, Bouvard M. {{Sensory Processing in Low-Functioning Adults with Autism Spectrum Disorder: Distinct Sensory Profiles and Their Relationships with Behavioral Dysfunction}}. {J Autism Dev Disord};2016 (Jun 30)
Sensory processing abnormalities are relatively universal in individuals with autism spectrum disorder, and can be very disabling. Surprisingly, very few studies have investigated these abnormalities in low-functioning adults with autism. The goals of the present study were (a) to characterize distinct profiles of sensory dysfunction, and (b) to understand how sensory dysfunction relates to behavioral disorders in this population. Data were collected for a representative sample of inpatients in autism care centers (N = 148) and a non-clinical control group. Results demonstrated that sensory dysfunction (a) is highly prevalent in low-functioning adults with ASD and differentiates at least four sub-profiles of patients, and (b) predicts specific patterns of behavioral disorders. Implications for care are discussed.
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13. Ikejiri K, Hosozawa M, Mitomo S, Tanaka K, Shimizu T. {{Reduced growth during early infancy in very low birth weight children with autism spectrum disorder}}. {Early Hum Dev};2016 (Jun 28);98:23-27.
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14. Louros SR, Osterweil EK. {{Perturbed proteostasis in autism spectrum disorders}}. {J Neurochem};2016 (Jul 1)
Dynamic changes in synaptic strength rely on de novo protein synthesis and protein degradation by the ubiquitin proteasome system (UPS). Disruption of either of these cellular processes will result in significant impairments in synaptic plasticity and memory formation. Mutations in several genes encoding regulators of mRNA translation and members of the UPS have been associated with an increased risk for the development of autism spectrum disorders (ASD). It is possible that these mutations result in a similar imbalance in protein homeostasis (proteostasis) at the synapse. This review will summarize recent work investigating the role of the UPS in synaptic plasticity at glutamatergic synapses, and propose that dysfunctional proteostasis is a common consequence of several genetic mutations linked to ASD. This article is protected by copyright. All rights reserved.
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15. Shrivastava SR, Krishnan S, Shrivastava PS. {{Responding to the challenge of autism spectrum disorder in low-resource settings}}. {J Neurosci Rural Pract};2016 (Jul-Sep);7(3):472-473.
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16. Veeraragavan S, Wan YW, Connolly DR, Hamilton SM, Ward CS, Soriano S, Pitcher MR, McGraw CM, Huang SG, Green JR, Yuva LA, Liang AJ, Neul JL, Yasui DH, LaSalle JM, Liu Z, Paylor R, Samaco RC. {{Loss of MeCP2 in the rat models regression, impaired sociability and transcriptional deficits of Rett syndrome}}. {Hum Mol Genet};2016 (Jun 30)
Mouse models of the transcriptional modulator Methyl-CpG-Binding Protein 2 (MeCP2) have advanced our understanding of Rett syndrome (RTT). RTT is a ‘prototypical’ neurodevelopmental disorder with many clinical features overlapping with other intellectual and developmental disabilities (IDD). Therapeutic interventions for RTT may therefore have broader applications. However, the reliance on the laboratory mouse to identify viable therapies for the human condition may present challenges in translating findings from the bench to the clinic. In addition, the need to identify outcome measures in well-chosen animal models is critical for preclinical trials. Here, we report that a novel Mecp2 rat model displays high face validity for modeling psychomotor regression of a learned skill, a deficit that has not been shown in Mecp2 mice. Juvenile play, a behavioral feature that is uniquely present in rats and not mice, is also impaired in female Mecp2 rats. Finally, we demonstrate that evaluating the molecular consequences of the loss of MeCP2 in both mouse and rat may result in higher predictive validity with respect to transcriptional changes in human RTT brain. These data underscore the similarities and differences caused by the loss of MeCP2 among divergent rodent species which may have important implications for the treatment of individuals with disease-causing MECP2 mutations. Taken together, these findings demonstrate that the Mecp2 rat model is a complementary tool with unique features for the study of RTT and highlight the potential benefit of cross-species analyses in identifying potential disease-relevant preclinical outcome measures.
