1. Belagodu AP, Johnson AM, Galvez R. {{Characterization of Ultrasonic Vocalizations of Fragile X Mice}}. {Behav Brain Res}. 2016.
Fragile X Syndrome (FXS) is the leading form of inherited intellectual disability. It is caused by the transcriptional silencing of FMR1, the gene which codes for the Fragile X Mental Retardation Protein (FMRP). Patients that have FXS exhibit numerous behavioral and cognitive impairments, such as attention-deficit/hyperactivity disorder, obsessive compulsive disorder, and autistic-like behaviors. In addition to these behavioral abnormalities, FXS patients have also been shown to exhibit various deficits in communication such as abnormal sentence structures, increased utterances, repetition of sounds and words, and reduced articulation. These deficits can dramatically hinder communication for FXS patients, exacerbating learning and cognition impairments while decreasing their quality of life. To examine the biological underpinnings of these communication abnormalities, studies have used a mouse model of the Fragile X Syndrome; however, these vocalization studies have resulted in inconsistent findings that often do not correlate with abnormalities observed in FXS patients. Interestingly, a detailed examination of frequency modulated vocalizations that are believed to be a better assessment of rodent communication has never been conducted. The following study used courtship separation to conduct a detailed examination of frequency modulated ultrasonic vocalizations (USV) in FXS mice. Our analyses of frequency modulated USVs demonstrated that adult FXS mice exhibited longer phrases and more motifs. Phrases are vocalizations consisting of multiple frequency modulated ultrasonic vocalizations, while motifs are repeated frequency modulated USV patterns. Fragile X mice had a higher proportion of « u » syllables in all USVs and phrases while their wildtype counterparts preferred isolated « h » syllables. Although the specific importance of these syllables towards communication deficits still needs to be evaluated, these findings in production of USVs are consistent with the repetitive and perseverative speech patterns observed in FXS patients. This study demonstrates that FXS mice can be used to study the underlying biological mechanism(s) mediating FXS vocalization abnormalities.
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2. Biscaldi M, Bednorz N, Weissbrodt K, Saville CW, Feige B, Bender S, Klein C. {{Cognitive Endophenotypes of AttentionDeficit/Hyperactivity Disorder and Intra-Subject Variability in Patients with Autism Spectrum Disorder}}. {Biol Psychol}. 2016.
Autism spectrum disorder (ASD) and attention-deficit/hyperactivity disorder (ADHD) have previously been studied mainly in isolation from each other. However the two conditions may be aetiologically related and thus show overlap in aetiologically relevant functions. In order to address this question of potential aetiological overlap between ADHD and ASD, the present study set out to investigate putative endophenotypes of ADHD in N=33 typically developing (TD) children and N=28 patients with ASD that were (ASD+) or were not (ASD-) co-morbid for ADHD. With regard to both the cognitive endophenotype candidates (working memory, inhibition, temporal processing) and intra-subject variability (ISV) the pattern of abnormalities was inconsistent. Furthermore, the overall profile of ASD-TD differences was extremely similar to the pattern of differences between the ASD+ and ASD- sub-groups, suggesting that any abnormalities found were due to the comorbid ASD subgroup. This held in particular for ISV, which did not show in patients with ASD the task-general increase that is common in ADHD samples. Altogether, the present results do not support the hypothesis of aetiological overlap between ASD and ADHD.
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3. Bohnert A, Lieb R, Arola N. {{More than Leisure: Organized Activity Participation and Socio-Emotional Adjustment Among Adolescents with Autism Spectrum Disorder}}. {J Autism Dev Disord}. 2016.
Adolescents with high-functioning Autism Spectrum Disorder (HFASD) experience difficulties with socio-emotional adjustment, including compromised friendships, feelings of loneliness, and depression. Using a sample of 127 adolescents with HFASD and their parents, this study is first to examine: (1) relations between organized activity (OA) involvement and adjustment and (2) whether these relations were moderated by social impairment and executive functions. Results indicated that greater intensity, breadth, and academic OA involvement were associated with fewer depressive symptoms. OA intensity was also associated with less loneliness. For adolescents with better emotional control, greater intensity was associated with better friendship quality. Results suggest that for adolescents with HFASD, more involvement in OA is associated with better socio-emotional adjustment even after accounting for risk factors.
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4. Cook J. {{From movement kinematics to social cognition: the case of autism}}. {Philos Trans R Soc Lond B Biol Sci}. 2016; 371(1693).
The way in which we move influences our ability to perceive, interpret and predict the actions of others. Thus movements play an important role in social cognition. This review article will appraise the literature concerning movement kinematics and motor control in individuals with autism, and will argue that movement differences between typical and autistic individuals may contribute to bilateral difficulties in reciprocal social cognition.
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5. Dean DC, 3rd, Travers BG, Adluru N, Tromp DP, Destiche DJ, Samsin D, Prigge MB, Zielinski BA, Fletcher PT, Anderson JS, Froehlich AL, Bigler ED, Lange N, Lainhart JE, Alexander AL. {{Investigating the Microstructural Correlation of White Matter in Autism Spectrum Disorder}}. {Brain Connect}. 2016.
White matter microstructure forms a complex and dynamical system that is critical for efficient and synchronized brain function. Neuroimaging findings in children with autism spectrum disorder (ASD) suggest this condition is associated with altered white matter microstructure, which may lead to atypical macroscale brain connectivity. In this study, we used diffusion tensor imaging measures to examine the extent that white matter tracts are interrelated within ASD and typical development. We assessed the strength of inter-regional white matter correlations between typically developing and ASD diagnosed individuals. Using hierarchical clustering analysis, clustering patterns of the pairwise white matter correlations were constructed and revealed to be different between the two groups. Additionally, we explored the use of graph theory analysis to examine the characteristics of the patterns formed by inter-regional white matter correlations and compared these properties between ASD and typical development. We demonstrate that the ASD sample has significantly less coherence in white matter microstructure across the brain compared to that in the typical development sample. The ASD group also presented altered topological characteristics, which may implicate less efficient brain networking in ASD. These findings highlight the potential of graph theory based network characteristics to describe the underlying networks as measured by diffusion magnetic resonance imaging and furthermore indicates that ASD may be associated with altered brain network characteristics. Our findings are consistent with those of a growing number of studies and hypotheses that have suggested disrupted brain connectivity in ASD.
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6. Ergaz Z, Fudim-Weinstein L, Ornoy A. {{Genetic and non-genetic animal models for Autism Spectrum Disorders (ASD)}}. {Reprod Toxicol}. 2016.
Autism spectrum disorder (ASD) is associated, in addition to complex genetic factors, with a variety of prenatal, perinatal and postnatal etiologies. We discuss the known animal models, mostly in mice and rats, of ASD that help us to understand the etiology, pathogenesis and treatment of human ASD. We describe only models where behavioral testing has shown autistic like behaviors. Some genetic models mimic known human syndromes like fragile X where ASD is part of the clinical picture, and others are without defined human syndromes. Among the environmentally induced ASD models in rodents, the most common model is the one induced by valproic acid (VPA) either prenatally or early postnatally. VPA induces autism-like behaviors following single exposure during different phases of brain development, implying that the mechanism of action is via a general biological mechanism like epigenetic changes. Maternal infection and inflammation are also associated with ASD in man and animal models.
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7. Fisher AG, Griswold LA, Munkholm M, Kottorp A. {{Evaluating domains of everyday functioning in people with developmental disabilities}}. {Scand J Occup Ther}. 2016: 1-9.
OBJECTIVE: To examine the relationship among (a) quality of activities of daily living (ADL) task performance, (b) quality of social interaction, and (c) the extent of discrepancy between the person’s and the occupational therapist’s perspectives; and explore patterns of strengths and challenges among people with developmental disabilities (DD). METHODS: Fifty-eight adults with different types of DD, living in northern Sweden, were evaluated using the Assessment of Motor and Process Skills (AMPS), the Evaluation of Social Interaction (ESI) and the Assessment of Compared Qualities – Occupational Performance (ACQ-OP) and Assessment of Compared Qualities – Social Interaction (ACQ-SI). The relationships among assessments were analysed using Pearson correlation analyses. Cluster analysis was used to group participants based on their evaluation results. Results The quality of ADL task performance and the quality of social interaction demonstrated weak to moderate positive relationships while the ACQ-OP and ACQ-SI demonstrated a strong positive relationship. The cluster analysis resulted in identifying three distinct groups that differed significantly from one another. CONCLUSION: The findings support the clinical use of multiple assessment tools, including observation and self-report, to evaluate different aspects of occupational performance. Comprehensive and relevant evaluation supports collaborative goal setting and intervention planning.
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8. Hennel S, Coates C, Symeonides C, Gulenc A, Smith L, Price AM, Hiscock H. {{Diagnosing autism: Contemporaneous surveys of parent needs and paediatric practice}}. {J Paediatr Child Health}. 2016.
AIM: Concurrence between parents’ information needs and clinicians’ practice when diagnosing autism is unknown but may influence families’ uptake of management and adjustment. We aimed to compare parents’ experience and preferences with paediatrician report of (i) diagnosis delivery and (ii) information given at diagnosis and identify types and usefulness of resources accessed by families post-diagnosis. METHODS: The design used for the study are parent and paediatrician surveys. Participants are parents of children aged 1.5-18 years, diagnosed with autism between 01 January 2010 and 30 September 2012 and their paediatricians who are members of the Australian Paediatric Research Network. Study-designed quantitative and qualitative questions about diagnosis delivery and information given at diagnosis (written and spoken vs. neither) and parent perceived importance and harms of information accessed post-diagnosis. RESULTS: Paediatricians (53/198 (27%)) identified 1127 eligible families, of whom 404 (36%) participated. Parents were more likely to report receiving adequate time to discuss diagnosis than paediatricians (71 vs. 51%). Parents (98%) rated information about accessing allied health professionals and the meaning of diagnosis as most important, yet paediatricians offered written or spoken information about each infrequently (allied health: 22%; diagnosis: 42%). Post-diagnosis, allied health was the most important source of information (83%). Harmful resources conveyed helplessness or non-evidenced-based therapies, but few parents (14%) reported this. CONCLUSIONS: Parents want more information than can be conveyed in a single diagnostic consultation. Developing a tailored ‘autism action plan’ with written materials could improve parents’ understanding of and satisfaction with children’s autism diagnoses.
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9. Jokiranta-Olkoniemi E, Cheslack-Postava K, Sucksdorff D, Suominen A, Gyllenberg D, Chudal R, Leivonen S, Gissler M, Brown AS, Sourander A. {{Risk of Psychiatric and Neurodevelopmental Disorders Among Siblings of Probands With Autism Spectrum Disorders}}. {JAMA Psychiatry}. 2016.
Importance: Previous research has focused on examining the familial clustering of schizophrenia, bipolar disorder, and autism spectrum disorders (ASD). Little is known about the clustering of other psychiatric and neurodevelopmental disorders among siblings of persons with ASD. Objective: To examine the risk for psychiatric and neurodevelopmental disorders among full siblings of probands with ASD. Design, Setting, and Participants: The Finnish Prenatal Study of Autism and Autism Spectrum Disorders used a population-based cohort that included children born from January 1, 1987, to December 31, 2005, who received a diagnosis of ASD by December 31, 2007. Each case was individually matched to 4 control participants by sex and date and place of birth. The siblings of the cases and controls were born from January 1, 1977, to December 31, 2005, and received a diagnosis from January 1, 1987, to December 31, 2009. This nested case-control study included 3578 cases with ASD with 6022 full siblings and 11775 controls with 22127 siblings from Finnish national registers. Data were analyzed from March 6, 2014, to February 12, 2016. Main Outcomes and Measures: The adjusted risk ratio (RR) for psychiatric and neurodevelopmental disorders among siblings of probands with ASD vs siblings of matched controls. Additional analyses were conducted separately for ASD subgroups, including childhood autism, Asperger syndrome, and pervasive developmental disorders not otherwise specified. Analyses were further stratified by sex and intellectual disability among the probands. Results: Among the 3578 cases with ASD (2841 boys [79.4%]) and 11775 controls (9345 boys [79.4%]), 1319 cases (36.9%) and 2052 controls (17.4%) had at least 1 sibling diagnosed with any psychiatric or neurodevelopmental disorder (adjusted RR, 2.5; 95% CI, 2.3-2.6). The largest associations were observed for childhood-onset disorders (1061 cases [29.7%] vs 1362 controls [11.6%]; adjusted RR, 3.0; 95% CI, 2.8-3.3), including ASD (374 cases [10.5%] vs 125 controls [1.1%]; adjusted RR, 11.8; 95% CI, 9.4-14.7), tic disorders (28 cases [0.8%] vs 24 controls [0.2%]; adjusted RR, 4.3; 95% CI, 2.3-8.2), attention-deficit/hyperactivity disorder (189 cases [5.3%] vs 180 controls [1.5%]; adjusted RR, 3.7; 95% CI, 2.9-4.7), learning and coordination disorders (563 cases [15.7%] vs 697 controls [5.9%]; adjusted RR, 3.2; 95% CI, 2.8-3.6), intellectual disability (104 cases [2.9%] vs 137 controls [1.2%]; adjusted RR, 3.1; 95% CI, 2.3-4.2), conduct and oppositional disorders (180 cases [5.0%] vs 221 controls [1.9%]; adjusted RR, 2.8; 95% CI, 2.2-3.5), and emotional disorders with onset specific to childhood (126 cases [3.5%] vs 157 controls [1.3%]; adjusted RR, 2.6; 95% CI, 1.9-3.4). Autism spectrum disorders were also associated with schizophrenia spectrum disorders, affective disorders, anxiety disorders, and other neurotic and personality disorders among siblings. Conclusions and Relevance: Psychiatric and neurodevelopmental disorders cluster among siblings of probands with ASD. For etiologic research, these findings provide further evidence that several psychiatric and neurodevelopmental disorders have common risk factors.
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10. Skalny AV, Skalnaya MG, Bjorklund G, Nikonorov AA, Tinkov AA. {{Mercury as a possible link between maternal obesity and autism spectrum disorder}}. {Med Hypotheses}. 2016; 91: 90-4.
The incidence of both obesity and autism spectrum disorders (ASD) has dramatically increased during the last decades. Moreover, the most recent studies have revealed increased risk of ASD in offspring of overweight and obese women. However, the mechanisms of association between ASD and maternal obesity are unknown. Taking into account the existing data indicating the association between mercury (Hg) exposure and development of obesity and ASD, we hypothesize that Hg may serve as an additional link between maternal obesity and ASD. In particular, it is supposed that obesity is associated with excessive accumulation of Hg in the maternal organism. After conception, the fetus is developing in the conditions of Hg overload within the body of obese women thus predisposing to the development of ASD. The proposed hypothesis may be confirmed by the existing data. In particular, previous studies demonstrated that overweight and obese persons are characterized by a significantly higher level of Hg in hair, blood and urine than the lean ones. Therefore, an obese organism is characterized by elevated Hg burden that may be transferred to the fetus during pregnancy. Moreover, multiple studies have demonstrated a tight association between maternal and children Hg status being indicative of placental transfer of metal from maternal organism to offspring. Finally, a growing body of data indicates the influence of Hg exposure and Hg status on the risk of ASD in children. However, additional experimental and clinical studies are required to prove the hypothesis and provide novel data on the role of Hg in maternal obesity-associated ASD development. In particular, the contribution of Hg to ASD development in children from obese mothers should be determined. If a significant role of Hg in maternal obesity ASD risk will be confirmed, this will open additional perspectives of risk modification. Taking into account the universal mechanisms of Hg toxicity, transport, and accumulation, further preventive actions may be undertaken to reduce the risk of Hg toxicity and Hg-associated ASD development. In particular, it is supposed that the use of Hg chelators (like N,N’bis-(2-mercaptoethyl)isophthalamide, NMBI), antioxidants, and anti-inflammatory compounds prior or during pregnancy may have a beneficial effect. However, the safety of such actions should repeatedly be tested to avoid adverse health effects in a developing fetus.
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11. Theoharides TC, Stewart JM, Panagiotidou S, Melamed I. {{Mast cells, brain inflammation and autism}}. {Eur J Pharmacol}. 2016; 778: 96-102.
Increasing evidence indicates that brain inflammation is involved in the pathogenesis of neuropsychiatric diseases. Mast cells (MCs) are located perivascularly close to neurons and microglia, primarily in the leptomeninges, thalamus, hypothalamus and especially the median eminence. Corticotropin-releasing factor (CRF) is secreted from the hypothalamus under stress and, together with neurotensin (NT), can stimulate brain MCs to release inflammatory and neurotoxic mediators that disrupt the blood-brain barrier (BBB), stimulate microglia and cause focal inflammation. CRF and NT synergistically stimulate MCs and increase vascular permeability; these peptides can also induce each others surface receptors on MCs leading to autocrine and paracrine effects. As a result, brain MCs may be involved in the pathogenesis of « brain fog, » headaches, and autism spectrum disorders (ASDs), which worsen with stress. CRF and NT are significantly increased in serum of ASD children compared to normotypic controls further strengthening their role in the pathogenesis of autism. There are no clinically affective treatments for the core symptoms of ASDs, but pilot clinical trials using natural-antioxidant and anti-inflammatory molecules reported statistically significant benefit.
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12. von der Luhe T, Manera V, Barisic I, Becchio C, Vogeley K, Schilbach L. {{Interpersonal predictive coding, not action perception, is impaired in autism}}. {Philos Trans R Soc Lond B Biol Sci}. 2016; 371(1693).
This study was conducted to examine interpersonal predictive coding in individuals with high-functioning autism (HFA). Healthy and HFA participants observed point-light displays of two agents (A and B) performing separate actions. In the ‘communicative’ condition, the action performed by agent B responded to a communicative gesture performed by agent A. In the ‘individual’ condition, agent A’s communicative action was substituted by a non-communicative action. Using a simultaneous masking-detection task, we demonstrate that observing agent A’s communicative gesture enhanced visual discrimination of agent B for healthy controls, but not for participants with HFA. These results were not explained by differences in attentional factors as measured via eye-tracking, or by differences in the recognition of the point-light actions employed. Our findings, therefore, suggest that individuals with HFA are impaired in the use of social information to predict others’ actions and provide behavioural evidence that such deficits could be closely related to impairments of predictive coding.
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13. Zhang MX, Dai XH, Zhang J. {{[Progress in the relation of autism spectrum disorders and enteric dysbacteriosis]}}. {Zhonghua Er Ke Za Zhi}. 2016; 54(5): 392-5.
