1. Absah I. {{The Rates of 61.5% and 38.5% for Vitamin D Deficiency and Insufficiency in Autism, A Guide for Screening in Celiac}}. {Journal of pediatric gastroenterology and nutrition}. 2014 Sep 2.
Lien vers le texte intégral (Open Access ou abonnement)
2. Almeida RA, Edwin Dickinson J, Maybery MT, Badcock JC, Badcock DR. {{Enhanced global integration of closed contours in individuals with high levels of autistic-like traits}}. {Vision research}. 2014 Aug 28.
Individuals with autistic traits (measured with Autism-spectrum Quotient, AQ) often excel in detecting shapes hidden within complex structures (e.g. on the Embedded Figures Test, EFT). This facility has been attributed to either weaker global integration of scene elements or enhanced local processing, but ‘local’ and ‘global’ have various meanings in the literature. The function of specific global visual mechanisms involved in integrating contours, similar to EFT targets was examined. High AQ scorers produced enhanced performance on the EFT and an alternative radial frequency search task. Contrary to ‘generic’ interpretations of weaker global pooling, this group displayed stronger pooling of contour components that was correlated with search ability. This study therefore shows a global contour integration advantage in high AQ observers.
Lien vers le texte intégral (Open Access ou abonnement)
3. Bey AL, Jiang YH. {{Overview of mouse models of autism spectrum disorders}}. {Current protocols in pharmacology / editorial board, SJ Enna (editor-in-chief) [et al]}. 2014;66:5 66 1-5 26.
This overview describes many well characterized mouse models of autism spectrum disorders (ASDs). Mouse models considered here were selected because they are examples of genetically engineered models where human genetic evidence supports a causative relationship between the targeted mutation and the behavioral phenotype. As the ASD diagnosis is based primarily on behavioral evaluations in humans in the domains of social interaction, communication, and restricted interests, the murine phenotypes analogous to human autistic behaviors are highlighted for the different models and behaviors. Although genetically engineered mouse models with good construct and face validity are valuable for identifying and defining underlying pathophysiological mechanisms and for developing potential therapeutic interventions for the human condition, the translational value of various rodent behavioral assays remains a subject of debate. Significant challenges associated with modeling ASDs in rodents because of the clinical and molecular heterogeneity that characterize this disorder are also considered. Curr. Protoc. Pharmacol. 66:5.66.1-5.66.26. (c) 2014 by John Wiley & Sons, Inc.
Lien vers le texte intégral (Open Access ou abonnement)
4. Coben R, Ricca R. {{EEG Biofeedback for Autism Spectrum Disorder: A Commentary on Kouijzer et al. (2013)}}. {Applied psychophysiology and biofeedback}. 2014 Sep 2.
Research conducted by Kouijzer et al. (Appl Psychophysiol Biofeedback 38(1):17-28, 2013) compared the effects of skin conductance biofeedback and EEG-biofeedback on patients with autistic spectrum disorders to determine their relative efficacy. While they found a difference between treatment and control groups, there was no significant difference on many variables between the two treatment groups. From this, the increase in symptom alleviation from autistic spectrum disorder was attributed to non-specific factors surrounding the study. We now offer alternative explanations for their findings and propose different options for future studies. We hypothesize that the location and type of neurofeedback used adversely impacted the findings. We speculate that had they used a form of EEG-biofeedback that can combat deficiencies in connectivity and also trained the areas of the brain most affected by autism, there may have then been a significant difference between the effectiveness of EEG-biofeedback versus skin conductance biofeedback.
Lien vers le texte intégral (Open Access ou abonnement)
5. Danov R. {{B-43Diagnostic Challenges and Educational Planning in Autism}}. {Archives of clinical neuropsychology : the official journal of the National Academy of Neuropsychologists}. 2014 Sep;29(6):552.
OBJECTIVE: New diagnostic criteria of Autism and the prevalence of Autism are raising a lot of questions. Parents, educators and medical professionals are searching for answers to determine which child should be diagnosed with Autism Spectrum Disorder (ASD) and qualify for related services. Neuropsychologists are in a unique position to help differentiate ASD from other developmental disorders using objective neuropsychological (NP) tools to elicit and accurately measure deficits and strengths. METHOD: Case A: A 4 year-old boy with developed language and academic skills and absence of repetitive movements experiences behavioral difficulties in school. Pediatrician diagnosed ADHD. NP testing revealed mild deficits in social communication and interaction and rigid thinking, which contribute to his behavioral problems. Case B: A 4 year-old girl with language delay, hyperactivity and diminishing repetitive behaviors experienced difficulty completing classwork. Neurologist diagnosed ADHD with language delay. NP assessment revealed deficits in language, motor, and social interaction, but normal academic skills. Both children met criteria for ASD. RESULTS: Case A: Testing revealed superior intellect, above-average academic skills, and mild but wide-spread social deficits. Child was placed in a mainstream class with Autism-related services. Case B: She scored well on early-reading and math tasks but IQ score was low due to hyperactivity and poor social interaction. She qualified for Autism-related services to support her development. CONCLUSION(S): NP assessment is critical for ASD diagnosis and selection of services. Neuropsychologists can elicit some symptoms and developmental strengths, which otherwise are not readily observed by teachers or pediatricians, to diagnose ASD and aide in educational planning.
Lien vers le texte intégral (Open Access ou abonnement)
6. DiCowden M, Miller S, Brumer C, Fernandez V. {{C-62Using the International Classification of Functioning to Track Functional Improvement: A 9-Year Longitudinal Study of an Adolescent with Severe Autism}}. {Archives of clinical neuropsychology : the official journal of the National Academy of Neuropsychologists}. 2014 Sep;29(6):596-7.
OBJECTIVE: This 9 year longitudinal case study describes the successful application of a behavior modification program in a combined educational/therapeutic setting with a low functioning adolescent diagnosed with autism. The patient had no history of behavioral modification prior to entering the outpatient setting. METHOD: Goals were specifically set for the patient every 3 months over the 9 year period. His functional response to treatment and accomplishment of goals was assessed with the appropriate Functional Independent Measures (FIM) then classified using the International Classification of Functioning (ICF). Goals addressed receptive/expressive language, attending to social stimuli, imitation, rote counting calculations, perception, and sense of self through self-help care. Immediate and token reward systems were used to shape behavior. Domains were assessed monthly using the FIM and number of goals achieved versus those not achieved. Assessments were then classified using the ICF and analyzed using a trend analysis. RESULTS: Data demonstrated that the patient accomplished a high percentage of goals, even reaching 85% of behavioral goals set. Improvement was also revealed by an increase from total/maximum assistance to moderate assistance in various domains over the 9 year period. CONCLUSION(S): Behavioral modification, in a combined special education and therapeutic outpatient program, can improve the functioning of an adolescent with severe autism. As classified by the ICF, this higher functioning covers a variety of necessary skills/domains and can be effectively tracked over time. The ICF to chart these functional improvements provides an important step in demonstrating the efficacy of long term interdisciplinary treatment especially with severe cases.
Lien vers le texte intégral (Open Access ou abonnement)
7. El-Ansary A, Al-Ayadhi L. {{Relative abundance of short chain and polyunsaturated fatty acids in propionic acid-induced autistic features in rat pups as potential markers in autism}}. {Lipids in health and disease}. 2014 Aug 31;13(1):140.
BACKGROUND: Fatty acids are essential dietary nutrients, and one of their important roles is providing polyunsaturated fatty acids (PUFAs) for the growth and function of nervous tissue. Short chain fatty acids (SCFAs) are a group of compounds derived from the host microbiome that were recently linked to effects on the gut, the brain, and behavior. They are therefore linked to neurodevelopmental disorders such as autism. Reduced levels of PUFAs are associated with impairments in cognitive and behavioral performance, which are particularly important during brain development. Recent studies suggest that omega -3 fatty acids such as eicosapentaenoic acid (EPA) and docosahexaenoic acid (DHA) are involved in neurogenesis, neurotransmission, and protection from oxidative stress. Omega-3 PUFAs mediate some of these effects by antagonizing Omega-6 PUFA (arachidonic acid, AA)-induced proinflammatory prostaglandin E2 (PGE2) formation. METHODS: In this work, the absolute and relative concentrations of propionic (PPA), butyric and acetic acids, as well as PUFAs and their precursors (alpha-Linolenic and linoleic), were measured in the brain tissue of PPA-neurointoxicated rat pups (receiving 250 mg PPA/Kg body weight for 3 consecutive days) as a rodent model with persistent autistic features compared with healthy controls. RESULTS: The data revealed remarkably lower levels of omega6/omega3, alpha-Linolenic/Linoleic, alpha-Linolenic/EPA, alpha-Linolenic/DHA, EPA / DHA, and AA/Linoleic acid ratios in PPA-intoxicated rats. The role of these impaired ratios is discussed in relation to the activity of desaturases and elongases, which are the two enzymatic groups involved in the synthesis of PUFAs from their precursors. The relationship between the abnormal relative concentrations of the studied fatty acids and oxidative stress, neurotransmission, and neuroinflammation is also discussed in detail. CONCLUSIONS: This study demonstrates that fatty acid ratios are useful for understanding the mechanism of PPA neurotoxicity in a rodent model of autism. Therefore, it is possible to use these ratios for predictions in patients with this disorder.
Lien vers le texte intégral (Open Access ou abonnement)
8. Etzel RA. {{Foreword: Environmental Chemical Exposures and Autism Spectrum Disorders: A Review of the Epidemiological Evidence}}. {Current problems in pediatric and adolescent health care}. 2014 Aug 28.
Lien vers le texte intégral (Open Access ou abonnement)
9. Garg P, Lillystone D, Dossetor D, Kefford C, Chong S. {{An Exploratory Survey for Understanding Perceptions, Knowledge and Educational Needs of General Practitioners (GSs) Regarding Autistic Disorders in New South Wales (NSW), Australia}}. {Journal of clinical and diagnostic research : JCDR}. 2014 Jul;8(7):PC01-9.
AIM: A survey was conducted to ascertain General Practitioners (GPs’) perceptions, knowledge and educational needs regarding autistic disorders in childhood. METHODS: A concurrent mixed method approach was used for data collection and analysis. Exploratory factor analysis (EFA) of the data was done and groups were compared using appropriate statistical tests. RESULTS: There was more response from female GPs, Australian medical graduates and those with an interest in mental and /or child health. Variability was noted in how GPs perceived their competence and knowledge of autistic disorders. About 60% correctly believed that an early-individualised treatment programme was evidence based. Knowledge was inversely related to the number of years in practice and enhanced by personal involvement with children of these disorders and awareness of community resources. Parallel analysis of knowledge scale revealed a « general knowledge » dimension loading items helpful for early identification and referral and a « surveillance » dimension helpful for ongoing involvement of GPs for management of children with ASDs. CONCLUSIONS: Although further development and refinement of knowledge questionnaire using these dimensions for primary care physicians are needed these are relevant target areas for education.
Lien vers le texte intégral (Open Access ou abonnement)
10. Ghanizadeh A. {{The rates of 61.5% and 38.5% for vitamin D deficiency and insufficiency in autism, a guide for screening in celiac}}. {Journal of pediatric gastroenterology and nutrition}. 2014 Sep 2.
Lien vers le texte intégral (Open Access ou abonnement)
11. Hogan-Brown AL, Hoedemaker RS, Gordon PC, Losh M. {{Eye-voice span during rapid automatized naming: evidence of reduced automaticity in individuals with autism spectrum disorder and their siblings}}. {Journal of neurodevelopmental disorders}. 2014;6(1):33.
BACKGROUND: Individuals with autism spectrum disorder (ASD) and their parents demonstrate impaired performance in rapid automatized naming (RAN), a task that recruits a variety of linguistic and executive processes. Though the basic processes that contribute to RAN differences remain unclear, eye-voice relationships, as measured through eye tracking, can provide insight into cognitive and perceptual processes contributing to RAN performance. For example, in RAN, eye-voice span (EVS), the distance ahead the eyes are when articulation of a target item’s label begins, is an indirect measure of automaticity of the processes underlying RAN. The primary objective of this study was to investigate automaticity in naming processes, as indexed by EVS during RAN. The secondary objective was to characterize RAN difficulties in individuals with ASD and their siblings. METHODS: Participants (aged 15-33 years) included 21 individuals with ASD, 23 siblings of individuals with ASD, and 24 control subjects, group-matched on chronological age. Naming time, frequency of errors, and EVS were measured during a RAN task and compared across groups. RESULTS: A stepwise pattern of RAN performance was observed, with individuals with ASD demonstrating the slowest naming across all RAN conditions, controls demonstrating the fastest naming, and siblings demonstrating intermediate performance. Individuals with ASD exhibited smaller EVSs than controls on all RAN conditions, and siblings exhibited smaller EVSs during number naming (the most highly automatized type of naming). EVSs were correlated with naming times in controls only, and only in the more automatized conditions. CONCLUSIONS: These results suggest that reduced automaticity in the component processes of RAN may underpin differences in individuals with ASD and their siblings. These findings also provide further support that RAN abilities are impacted by genetic liability to ASD. This study has important implications for understanding the underlying skills contributing to language-related deficits in ASD.
Lien vers le texte intégral (Open Access ou abonnement)
12. Kargas N, Lopez B, Reddy V, Morris P. {{The Relationship Between Auditory Processing and Restricted, Repetitive Behaviors in Adults with Autism Spectrum Disorders}}. {J Autism Dev Disord}. 2014 Sep 2.
Current views suggest that autism spectrum disorders (ASDs) are characterised by enhanced low-level auditory discrimination abilities. Little is known, however, about whether enhanced abilities are universal in ASD and how they relate to symptomatology. We tested auditory discrimination for intensity, frequency and duration in 21 adults with ASD and 21 IQ and age-matched controls. Contrary to predictions, there were significant deficits in ASD on all acoustic parameters. The findings suggest that low-level auditory discrimination ability varies widely within ASD and this variability relates to IQ level, and influences the severity of restricted and repetitive behaviours (RRBs). We suggest that it is essential to further our understanding of the potential contributing role of sensory perception ability on the emergence of RRBs.
Lien vers le texte intégral (Open Access ou abonnement)
13. Lamport D, Turner LA. {{Romantic Attachment, Empathy, and the Broader Autism Phenotype among College Students}}. {The Journal of genetic psychology}. 2014 May-Jun;175(3):202-13.
ABSTRACT Recent research suggests that mild autistic-like characteristics can be measured among relatives of individuals with autism and in the general population. These characteristics have been referred to as the broader autism phenotype (BAP), and include pragmatic language difficulties, aloofness, and rigidity. Evidence is growing to suggest that individuals with BAP encounter difficulties in their social interactions. Recent work demonstrates that college students scoring high on the BAP report more loneliness (Jobe & Williams White, 2007) and more interpersonal problems (Wainer, Ingersoll, & Hopwood, 2012). Because intimate relationships are important in development and are very salient in emerging adulthood, the authors examined the relation of the BAP to romantic attachment and empathy among young adults. Higher BAP scores were associated with lower empathy and higher attachment anxiety and avoidance. Specifically, pragmatic language difficulties were related to higher rates of avoidant attachment and this relationship was mediated by empathy. In contrast, pragmatic language deficits were directly related to anxious attachment.
Lien vers le texte intégral (Open Access ou abonnement)
14. Margari L, Colonna A, Craig F, Gentile M, Giannella G, Lamanna AL, Legrottaglie AR. {{Microphthalmia with Linear Skin Defects (MLS) associated with Autism Spectrum Disorder (ASD) in a patient with Familial 12.9Mb Terminal Xp deletion}}. {BMC pediatrics}. 2014 Sep 2;14(1):220.
BACKGROUND: Microphthalmia with linear skin defects (MLS) syndrome is a rare X-linked dominant male-lethal developmental disorder characterized by unilateral or bilateral microphthalmia and linear skin defects of the face and neck. Additional features affecting the eyes, heart, brain or genitourinary system can occur, corroborating the intra- and interfamilial phenotypic variability. The majority of patients display monosomy of the Xp22.2 region, where the holocytochrome c-type synthase (HCCS) gene is located. CASE PRESENTATION: We describe a 15-year-old-female affected by MLS syndrome and autism spectrum disorder (ASD). ASD has not previously been reported as a component of MLS. Our patient shows a large deletion of 12.9 Mb, involving Xp22.32-p22.2, which encompasses both the HCCS gene and autism X-linked genes. CONCLUSION: Thus, patients with a large deletion at Xp22 might display MLS with ASD, due to the deletion of contiguous genes, although the highly variable phenotype of these patients could be influenced by several genetic mechanisms, including different tissue-specific X-inactivation and somatic mosaicism.
Lien vers le texte intégral (Open Access ou abonnement)
15. Nardone S, Sharan Sams D, Reuveni E, Getselter D, Oron O, Karpuj M, Elliott E. {{DNA methylation analysis of the autistic brain reveals multiple dysregulated biological pathways}}. {Translational psychiatry}. 2014;4:e433.
Autism spectrum disorders (ASD) are a group of neurodevelopmental conditions characterized by dysfunction in social interaction, communication and stereotypic behavior. Genetic and environmental factors have been implicated in the development of ASD, but the molecular mechanisms underlying their interaction are not clear. Epigenetic modifications have been suggested as molecular mechanism that can mediate the interaction between the environment and the genome to produce adaptive or maladaptive behaviors. Here, using the Illumina 450 K methylation array we have determined the existence of many dysregulated CpGs in two cortical regions, Brodmann area 10 (BA10) and Brodmann area 24 (BA24), of individuals who had ASD. In BA10 we found a very significant enrichment for genomic areas responsible for immune functions among the hypomethylated CpGs, whereas genes related to synaptic membrane were enriched among hypermethylated CpGs. By comparing our methylome data with previously published transcriptome data, and by performing real-time PCR on selected genes that were dysregulated in our study, we show that hypomethylated genes are often overexpressed, and that there is an inverse correlation between gene expression and DNA methylation within the individuals. Among these genes there were C1Q, C3, ITGB2 (C3R), TNF-alpha, IRF8 and SPI1, which have recently been implicated in synaptic pruning and microglial cell specification. Finally, we determined the epigenetic dysregulation of the gene HDAC4, and we confirm that the locus encompassing C11orf21/TSPAN32 has multiple hypomethylated CpGs in the autistic brain, as previously demonstrated. Our data suggest a possible role for epigenetic processes in the etiology of ASD.
Lien vers le texte intégral (Open Access ou abonnement)
16. Noggle C, Thompson J, Davis J. {{B-21Everyday Executive Functioning Influences Adaptive Skills in Autistic Spectrum Disorders}}. {Archives of clinical neuropsychology : the official journal of the National Academy of Neuropsychologists}. 2014 Sep;29(6):543-4.
OBJECTIVE: Studies have established a link between intelligence and adaptive functioning skills in Autism Spectrum Disorders. Additional studies have demonstrated links between executive dysfunction and ASDs. The current study investigated to what extent everyday executive functioning in a sample of children and adolescents with ASDs corresponds with aspects of daily life functioning, as measured by the Adaptive Behavior Assessment System (ABAS). METHOD: An archival data set was utilized for the current study. Participants (N = 52) included children and adolescents diagnosed with an Autism Spectrum Disorder (i.e., Autism, Asperger’s or PDD-NOS) previously evaluated at an outpatient Neuropsychology clinic. All participants parents or caregivers completed the BRIEF and the ABAS as part of their clinical evaluation. RESULTS: RESULTS demonstrated that the vast majority of outcomes on the BRIEF were significantly correlated with outcomes on the ABAS. Specifically, Behavioral Regulation, Initiation, Monitoring, Metacognition, and Global Executive Control were significantly correlated with all ABAS outcomes which included Communication, Community use, Functional Academics, Home Living, Health and Safety, Leisure Activity, Self-Care, Self-Direction, Social, Conceptualization, Social functioning, and Practical functioning. Inhibition, Shifting, Working memory, and Planning and Organization were all related to the majority of ABAS outcomes. CONCLUSION(S): Findings suggest daily functioning in individuals with ASDs may be influenced, to some extent, by executive functioning. Identification of these relationships may prove important when it comes to developing targeted interventions.
Lien vers le texte intégral (Open Access ou abonnement)
17. Polderman TJ, Hoekstra RA, Posthuma D, Larsson H. {{The co-occurrence of autistic and ADHD dimensions in adults: an etiological study in 17 770 twins}}. {Translational psychiatry}. 2014;4:e435.
Autism spectrum disorder (ASD) and attention deficit/hyperactivity disorder (ADHD) often occur together. To obtain more insight in potential causes for the co-occurrence, this study examined the genetic and environmental etiology of the association between specific ASD and ADHD disorder dimensions. Self-reported data on ASD dimensions social and communication difficulties (ASDsc), and repetitive and restricted behavior and interests (ASDr), and ADHD dimensions inattention (IA), and hyperactivity/impulsivity (HI) were assessed in a community sample of 17 770 adult Swedish twins. Phenotypic, genetic and environmental associations between disorder dimensions were examined in a multivariate model, accounting for sex differences. ASDr showed the strongest associations with IA and HI in both sexes (rp 0.33 to 0.40). ASDsc also correlated moderately with IA (females rp 0.29 and males rp 0.35) but only modestly with HI (females rp 0.17 and males rp 0.20). Genetic correlations ranged from 0.22 to 0.64 and were strongest between ASDr and IA and HI. Sex differences were virtually absent. The ASDr dimension (reflecting restricted, repetitive and stereotyped patterns of behavior, interests and activities) showed the strongest association with dimensions of ADHD, on a phenotypic, genetic and environmental level. This study opens new avenues for molecular genetic research. As our findings demonstrated that genetic overlap between disorders is dimension-specific, future gene-finding studies on psychiatric comorbidity should focus on carefully selected genetically related dimensions of disorders.
Lien vers le texte intégral (Open Access ou abonnement)
18. Shivers CM, Plavnick JB. {{Sibling Involvement in Interventions for Individuals with Autism Spectrum Disorders: A Systematic Review}}. {J Autism Dev Disord}. 2014 Sep 2.
Many researchers have studied various interventions for individuals with autism spectrum disorder (ASD). Occasionally, siblings will be included in intervention studies, participating in programs designed to address a number of challenges faced by individuals with ASD. Although sibling involvement in such interventions is not a new phenomenon, there is no consistent method for including siblings in treatment for individuals with ASD. The purpose of this article is to review the existing literature describing sibling involvement in interventions among families of children with ASD, describing patterns of research and targeted outcomes. The authors also identify gaps and areas for future consideration from researchers, clinicians, and families.
Lien vers le texte intégral (Open Access ou abonnement)
19. Yau VM, Lutsky M, Yoshida CK, Lasley B, Kharrazi M, Windham G, Gee N, Croen LA. {{Prenatal and Neonatal Thyroid Stimulating Hormone Levels and Autism Spectrum Disorders}}. {J Autism Dev Disord}. 2014 Sep 2.
Thyroid hormones are critical for normal brain development. This study examined autism spectrum disorders (ASD) and thyroid stimulating hormone (TSH) levels measured in mid-pregnancy maternal serum and infant blood after birth. Three groups of children born in Orange County, CA in 2000-2001were identified: ASD (n = 78), developmental delay (n = 45), and general population controls (GP) (n = 149). Samples were retrieved from prenatal and newborn screening specimen archives. Adjusted logistic regression models showed inverse associations between ASD and log transformed TSH levels in maternal serum samples (ASD vs. GP: OR [95 % CI] 0.33 [0.12-0.91], Early Onset ASD vs. GP: 0.31 [0.10-0.98]). Results for thyroid levels in newborn blood samples were similar though not significant (ASD vs. GP: 0.61 [0.18-2.04]).
