1. Barbosa MR, Fernandes FD. {{Remote follow-up to speech-language intervention for children with Autism Spectrum Disorders (ASD): parents’ feedback regarding structured activities}}. {Codas};2017 (Feb 06);29(2):e20160119.
Purpose: This paper aims to present the first descriptions of experiences of parents and caretakers of children with Autism Spectrum Disorders (ASD) enrolled as mediators in a structured program of speech-language intervention with remote follow-up. Methods: Research with focus on speech-language intervention for children with ASD was carried out with remote follow-up. Forty parents were instructed to perform daily activities focused on communication and interaction with their children, at home, for a period of six weeks. Parents and caretakers were questioned about the experience and by means of a structured questionnaire. Results: Only 40% of the parents/caretakers conducted the activities proposed every day. Difficulties were reported by 60% of the parents/caretakers. Behavioral problems were also reported as reasons for the difficulties to conduct the activities proposed. Conclusion: the importance of parents who provide detailed information about the child’s development, discuss doubts and exchange experiences for the development of intervention programs that include families.
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2. Barney CC, Merbler AM, Quest K, Byiers BJ, Wilcox GL, Schwantes S, Roiko SA, Feyma T, Beisang A, Symons FJ. {{A case-controlled comparison of postoperative analgesic dosing between girls with Rett syndrome and girls with and without developmental disability undergoing spinal fusion surgery}}. {Paediatr Anaesth};2017 (Feb 08)
BACKGROUND: Rett syndrome is associated with severe motor and communicative impairment making optimal postoperative pain management a challenge. There are case reports documenting reduced postoperative analgesic requirement in Rett syndrome. AIM: The goal of this preliminary investigation was to compare postoperative analgesic management among a sample of girls with Rett syndrome compared to girls with and without developmental disability undergoing spinal fusion surgery. METHOD: The medical records of eight girls with Rett syndrome (mean age = 13.2 years, sd = 1.9), eight girls with developmental disability (cerebral palsy; mean age = 13.1 years, sd = 2.0), and eight girls without developmental disability (adolescent idiopathic scoliosis; mean age = 13.4, sd = 1.8) were reviewed. Data related to demographics, medications, and route of drug administration were recorded. RESULTS: Girls with Rett syndrome received significantly fewer morphine equivalent opioids postoperatively (M = 0.26 mg.kg-1 .day-1 , sd = 0.10) compared to girls with adolescent idiopathic scoliosis (M = 0.47mg.kg-1 .day-1 , sd = 0.13; 95% CI -0.34 to -0.08; P = 0.001) and girls with CP (M = 0.40 mg.kg-1 per day, sd = 0.14; 95% CI -0.27 to -0.02; P = 0.01). Girls with Rett syndrome received significantly fewer opioid patient-controlled analgesic (PCA) bolus doses (given by proxy; M = 42.63, sd = 17.84) compared to girls with adolescent idiopathic scoliosis (M = 98.25, sd = 52.77; 95% CI -96.42 to -14.83; P = 0.01). There was also some evidence indicating girls with Rett syndrome received fewer bolus doses compared to girls with CP (M = 80.88, sd = 38.93; 95% CI -79.05 to 2.55; P = 0.06). On average, girls with Rett syndrome also received smaller total doses of acetaminophen, diazepam, and hydroxyzine. CONCLUSION: This study highlights possible discrepancies in postoperative pain management specific to girls with Rett syndrome and suggests further investigation is warranted to determine best practice for postoperative analgesic management for this vulnerable patient population.
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3. Borghi E, Borgo F, Severgnini M, Savini MN, Casiraghi MC, Vignoli A. {{Rett Syndrome: A Focus on Gut Microbiota}}. {Int J Mol Sci};2017 (Feb 07);18(2)
Rett syndrome (RTT) is an X-linked neurodevelopmental disorder affecting 1 in 10,000 live female births. Changes in microbiota composition, as observed in other neurological disorders such as autism spectrum disorders, may account for several symptoms typically associated with RTT. We studied the relationship between disease phenotypes and microbiome by analyzing diet, gut microbiota, and short-chain fatty acid (SCFA) production. We enrolled eight RTT patients and 10 age- and sex-matched healthy women, all without dietary restrictions. The microbiota was characterized by 16S rRNA gene sequencing, and SCFAs concentration was determined by gas chromatographic analysis. The RTT microbiota showed a lower alpha diversity, an enrichment in Bacteroidaceae, Clostridium spp., and Sutterella spp., and a slight depletion in Ruminococcaceae. Fecal SCFA concentrations were similar, but RTT samples showed slightly higher concentrations of butyrate and propionate, and significant higher levels in branched-chain fatty acids. Daily caloric intake was similar in the two groups, but macronutrient analysis showed a higher protein content in RTT diets. Microbial function prediction suggested in RTT subjects an increased number of microbial genes encoding for propionate and butyrate, and amino acid metabolism. A full understanding of these critical features could offer new, specific strategies for managing RTT-associated symptoms, such as dietary intervention or pre/probiotic supplementation.
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4. Dang T, Duan WY, Yu B, Tong DL, Cheng C, Zhang YF, Wu W, Ye K, Zhang WX, Wu M, Wu BB, An Y, Qiu ZL, Wu BL. {{Autism-associated Dyrk1a truncation mutants impair neuronal dendritic and spine growth and interfere with postnatal cortical development}}. {Mol Psychiatry};2017 (Feb 07)
Autism is a prevailing neurodevelopmental disorder with a large genetic/genomic component. Recently, the dual-specificity tyrosine-(Y)-phosphorylation-regulated kinase 1 A (DYRK1A) gene was implicated as a risk factor for autism spectrum disorder (ASD). We identified five DYRK1A variants in ASD patients and found that the dose of DYRK1A protein has a crucial role in various aspects of postnatal neural development. Dyrk1a loss of function and gain of function led to defects in dendritic growth, dendritic spine development and radial migration during cortical development. Importantly, two autism-associated truncations, R205X and E239X, were shown to be Dyrk1a loss-of-function mutants. Studies of the truncated Dyrk1a mutants may provide new insights into the role of Dyrk1a in brain development, as well as the role of Dyrk1a loss of function in the pathophysiology of autism.Molecular Psychiatry advance online publication, 7 February 2017; doi:10.1038/mp.2016.253.
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5. Decoteau CL. {{The « Western disease »: Autism and Somali parents’ embodied health movements}}. {Soc Sci Med};2017 (Feb 01);177:169-176.
There is some statistical evidence indicating that Somali refugees and immigrants have high rates of autism spectrum disorder (ASD). Somalis in North America call autism the « Western disease » because there is no word for autism in the Somali language and because many believe it does not exist in Somalia. In Toronto, Somali parents have forged an « epistemic community, » united around a coherent theory of the development of autism, its defining features, and most successful therapies. They work together with researchers to support the theory that gut bacteria is a causal factor for the development of autism. They argue that it is the diet and medical environment in North America (including the use of preservatives, genetically-modified processing, and antibiotics in both health care and food production) that explains the high rates of autism within the Somali diaspora. The paper argues that race and nationality have been underexplored in theories of embodied health movements. I argue that Somali parents’ organizing pushes theories of health social movements in new directions, by suggesting that experiences of forced migration and racial exclusion, as well as non-Western cultural ontologies of health, are important for understanding embodied experiences of illness and the forging of « politicized collective illness identities » that challenge mainstream scientific understandings of autism. As such, Somalis’ race and nationality play key roles in their pathways to group construction, in their embodied experiences of illness, and in their resources for mobilization.
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6. Esanov R, Andrade NS, Bennison S, Wahlestedt C, Zeier Z. {{The FMR1 promoter is selectively hydroxymethylated in primary neurons of fragile X syndrome patients}}. {Hum Mol Genet};2016 (Nov 15);25(22):4870-4880.
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7. Fields C, Glazebrook JF. {{Disrupted development and imbalanced function in the global neuronal workspace: a positive-feedback mechanism for the emergence of ASD in early infancy}}. {Cogn Neurodyn};2017 (Feb);11(1):1-21.
Autism spectrum disorder (ASD) is increasingly being conceptualized as a spectrum disorder of connectome development. We review evidence suggesting that ASD is characterized by a positive feedback loop that amplifies small functional variations in early-developing sensory-processing pathways into structural and functional imbalances in the global neuronal workspace. Using vision as an example, we discuss how early functional variants in visual processing may be feedback-amplified to produce variant object categories and disrupted top-down expectations, atypically large expectation-to-perception mismatches, problems re-identifying individual people and objects, socially inappropriate, generally aversive emotional responses and disrupted sensory-motor coordination. Viewing ASD in terms of feedback amplification of small functional variants allows a number of recent models of ASD to be integrated with neuroanatomical, neurofunctional and genetic data.
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8. Finch KH, Seery AM, Talbott MR, Nelson CA, Tager-Flusberg H. {{Lateralization of ERPs to speech and handedness in the early development of Autism Spectrum Disorder}}. {J Neurodev Disord};2017;9:4.
BACKGROUND: Language is a highly lateralized function, with typically developing individuals showing left hemispheric specialization. Individuals with autism spectrum disorder (ASD) often show reduced or reversed hemispheric lateralization in response to language. However, it is unclear when this difference emerges and whether or not it can serve as an early ASD biomarker. Additionally, atypical language lateralization is not specific to ASD as it is also seen more frequently in individuals with mixed- and left-handedness. Here, we examined early asymmetry patterns measured through neural responses to speech sounds at 12 months and behavioral observations of handedness at 36 months in children with and without ASD. METHODS: Three different groups of children participated in the study: low-risk controls (LRC), high risk for ASD (HRA; infants with older sibling with ASD) without ASD, and HRA infants who later receive a diagnosis of ASD (ASD). Event-related potentials (ERPs) to speech sounds were recorded at 12 months. Utilizing a novel observational approach, handedness was measured by hand preference on a variety of behaviors at 36 months. RESULTS: At 12 months, lateralization patterns of ERPs to speech stimuli differed across the groups with the ASD group showing reversed lateralization compared to the LRC group. At 36 months, factor analysis of behavioral observations of hand preferences indicated a one-factor model with medium to high factor loadings. A composite handedness score was derived; no group differences were observed. There was no association between lateralization to speech at 12 months and handedness at 36 months in the LRC and HRA groups. However, children with ASD did show an association such that infants with lateralization patterns more similar to the LRC group at 12 months were stronger right-handers at 36 months. CONCLUSIONS: These results highlight early developmental patterns that might be specific to ASD, including a potential early biomarker of reversed lateralization to speech stimuli at 12 months, and a relation between behavioral and neural asymmetries. Future investigations of early asymmetry patterns, especially atypical hemispheric specialization, may be informative in the early identification of ASD.
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9. Han YM, Cheung WK, Wong CK, Sze SL, Cheng TW, Yeung MK, Chan AS. {{Distinct Cytokine and Chemokine Profiles in Autism Spectrum Disorders}}. {Front Immunol};2017;8:11.
Previous studies have shown that immunological factors are involved in the pathogenesis of autism spectrum disorders (ASDs). However, this research has been conducted almost exclusively in Western contexts, and only a handful of studies on immune measures have been conducted in Asian populations, such as Chinese populations. The present study examined whether immunological abnormalities are associated with cognitive deficits and problem behaviors in Chinese children with ASD and whether these children show different immunological profiles. Thirteen typically developing (TD) children and 22 children with ASD, aged 6-17 years, participated voluntarily in the study. Executive functions and short-term memory were measured using neuropsychological tests, and behavioral measures were assessed using parent ratings. The children were also assessed on immunological measures, specifically, the levels of cytokines and chemokines in the blood serum. Children with ASD showed greater deficits in cognitive functions, as well as altered levels of immunological measures, including CCL2, CCL5, and CXCL9 levels, compared to TD children, and the cognitive functions and associated behavioral deficits of children with ASD were significantly associated with different immunological measures. The children were further sub-classified into ASD with only autistic features (ASD-only) or ASD comorbid with attention deficit hyperactivity disorder (ASD + ADHD). The comorbidity results showed that there were no differences between the two groups of ASD children in any of the cognitive or behavioral measures. However, the results pertaining to immunological measures showed that the children with ASD-only and ASD + ADHD exhibited distinct cytokine and chemokine profiles and that abnormal immunologic function was associated with cognitive functions and inattention/hyperactivity symptoms. These results support the notion that altered immune functions may play a role in the selective cognitive and behavioral symptoms of ASD.
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10. Hellings JA, Boehm D, Yeh HW, Butler MG, Schroeder SR. {{Long-Term Aripiprazole in Youth With Developmental Disabilities Including Autism}}. {J Ment Health Res Intellect Disabil};2011;4(1):40-52.
We retrospectively reviewed clinic charts of 21 children and adolescents with developmental disabilities including autism spectrum disorders (ASD) treated consecutively with aripiprazole (ARI) for irritability and severe challenging behaviors. Data extracted include age, sex, and race; level of intellectual disability (ID); Diagnostic and Statistical Manual-IV diagnoses including comorbidity, ARI dosage, and treatment duration; other psychoactive medications and Clinical Global Impressions-Improvement (CGI-I) at baseline and end point; weight; height; and side effects. Body mass index (BMI) z scores are compared with Centers for Disease Control norms. Eleven boys and 10 girls with ID and/or ASD ages 8 to 18 years (mean age 13.4 years) received ARI; mean dose was 8.4 mg/day (range 2.5 to 15); average duration was 60.6 weeks (7 to 132). Eleven of 21 patients (52%) met CGI-I response of Lien vers le texte intégral (Open Access ou abonnement)
11. Jamison JM, Fourie E, Siper PM, Trelles MP, George-Jones J, Buxbaum Grice A, Krata J, Holl E, Shaoul J, Hernandez B, Mitchell L, McKay MM, Buxbaum JD, Kolevzon A. {{Examining the Efficacy of a Family Peer Advocate Model for Black and Hispanic Caregivers of Children with Autism Spectrum Disorder}}. {J Autism Dev Disord};2017 (Feb 06)
Autism spectrum disorder (ASD) affects individuals across all racial and ethnic groups, yet rates of diagnosis are disproportionately higher for Black and Hispanic children. Caregivers of children with ASD experience significant stressors, which have been associated with parental strain, inadequate utilization of mental health services and lower quality of life. The family peer advocate (FPA) model has been utilized across service delivery systems to provide family-to-family support, facilitate engagement, and increase access to care. This study used a randomized controlled design to examine the efficacy of FPAs in a racially and ethnically diverse sample. Results demonstrate significantly increased knowledge of ASD and reduced levels of stress for caregivers who received the FPA intervention as compared to treatment as usual.
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12. Kaluzna-Czaplinska J, Jozwik-Pruska J, Axt A. {{Chromatographic determination of harmalans in the urine of autistic children}}. {Biomed Chromatogr};2017 (Feb 09)
This paper presents a new approach to autism- a complex and still enigmatic condition. We present the results of our preliminary research which was based on the detection of the hallucinogenic substance 6- (or 10-) methoxyharmalan in the urine samples of autistic children with the use of chromatographic methods. Additionally, we aim to describe the relationship between the level of tryptophan and harmalan, and the influence of supplementation on the level of this compound. We applied HPLC-UV/Vis, HPLC-DAD and LC-MS in order to determine McIsaac’s compound in the urine samples obtained from autistic children (n = 132) and healthy individuals (n = 10). The level of tryptophan was quantified with the use of GC-MS. Our research shows the presence of the McIsaac’s compound in 110 samples of ASD children contrary to healthy children, where it was not found. No relationship between the level of tryptophan and 6-methoxyharmalan was noticed. The study shows a strong influence of melatonin supplementation on the presence of the McIsaac’s compound. We believe that the results of our research can contribute to a better understanding of autism spectrum disorders. Moreover, our findings can form the basis for other studies focused on autism, eventually making it possible to understand its etiology.
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13. Kratz SV, Kerr J, Porter L. {{The use of CranioSacral therapy for Autism Spectrum Disorders: Benefits from the viewpoints of parents, clients, and therapists}}. {J Bodyw Mov Ther};2017 (Jan);21(1):19-29.
OBJECTIVES: The objectives of this preliminary study were to explore: the use of CranioSacral Therapy for persons with Autism Spectrum Disorder, the demographics of participants, and the retrospective interpretation of reported changes related to the intervention. Participants included therapists, parents, and clients. METHODS: Recruitment of participants was conducted through electronic social and professional networks. Online questionnaire surveys were provided. Demographic questions were posed to understand both the extent of clinical use and the rationales for such treatment, and surveys were unique to each subject groups. All participants were given a 20-item functional behavior checklist as a means to measure their perception of change attributed to this intervention. Open-ended comments were also encouraged to explore perspectives from their experiential treatments. The Qualitative data collected was analyzed via Inductive Content Analysis. The data was stored on excel and analyzed manually and independently by all 3 authors. RESULTS: A total of 405 people responded to the recruitments and of the participants who completed surveys, 264 were therapists and 124 parents. Only a small sampling of clients responded. The demographics of professionals using CST for ASD, their level of CST training, and their qualifications to work with ASD were reflected. Demographics and referral sources of parents, and other details of their experiences, were surveyed. Perceived changes to the use of CST were explored through analysis of responses to both the Likert scale as well as the open comments. CONCLUSIONS: This preliminary study introduces the concept of CranioSacral Therapy as a treatment option for symptoms associated with ASD. Its clinical use has been available for three decades but few empirical studies exist. The results of the survey suggest that CST is already being professionally recommended as a treatment. This study found that there were positive responses observed by all 3 targeted groups leading to the authors concluding that there is worthy cause to further investigate how CST benefits Autism Spectrum Disorders (ASD).
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14. Lafage R, Bess S, Glassman S, Ames C, Burton D, Hart R, Kim HJ, Klineberg E, Henry J, Line B, Scheer J, Protopsaltis T, Schwab F, Lafage V. {{Virtual Modeling of Postoperative Alignment Following Adult Spinal Deformity (ASD) Surgery Helps Predict associations between Compensatory Spinopelvic Alignment Changes, Overcorrection and Proximal Junctional Kyphosis (PJK)}}. {Spine (Phila Pa 1976)};2017 (Feb 09)
STUDY DESIGN: Retrospective review of a prospective multicenter database. OBJECTIVE: To develop a method to analyze sagittal alignment, free of PJK’s influence, and then compare PJK to non-PJK patients using this method. SUMMARY OF BACKGROUND DATA: Proximal Junctional Kyphosis (PJK) following Adult Spinal Deformity (ASD) surgery remains problematic as it alters sagittal alignment. This study proposes a novel virtual modeling technique that attempts to eliminate the confounding effects of PJK on postoperative spinal alignment. METHODS: A virtual spinal modeling technique was developed on a retrospective ASD cohort of patients with multilevel spinal fusions to the pelvis with at least 2 year post-operative follow-up. The virtual post-op alignment (VIRTUAL) was created from the post-op alignment of the instrumented segments and the pre-op alignment of the unfused segments. VIRTUAL was validated by comparisons to actual 2-year post-op alignment (REAL) in NOPJK patients. Patients were then divided into two groups: PJK and NOPJK based on the presence/absence of PJK at 2 years post-op. PJK and NOPJK patients were compared using VIRTUAL and REAL. RESULTS: 458 patients (78F, mean 57.9y) were analyzed. The validation of VIRTUAL versus REAL demonstrated correlation coefficients above 0.7 for all measures except SVA (r = 0.604). At 2-years, REAL alignment in PJK patients demonstrated a smaller PI-LL and a larger thoracic kyphosis than NOPJK patients, but similar SVA, TPA, and PT. An analysis of VIRTUAL demonstrated that PJK patients had a smaller PI-LL, PT, SVA, and TPA than NOPJK patients (p < 0.05). CONCLUSION: This technique demonstrated strong correlations with actual postoperative alignment. Comparisons between REAL and VIRTUAL alignments revealed that postoperative PJK may develop partially as a compensatory mechanism to the over-correction of sagittal deformities. Future research will evaluate the appropriate thresholds for deformity correction according to age and ASD severity. LEVEL OF EVIDENCE: 3. Lien vers le texte intégral (Open Access ou abonnement)
15. Leslie DL, Iskandarani K, Velott DL, Stein BD, Mandell DS, Agbese E, Dick AW. {{Medicaid Waivers Targeting Children With Autism Spectrum Disorder Reduce The Need For Parents To Stop Working}}. {Health Aff (Millwood)};2017 (Feb 01);36(2):282-288.
Several states have passed Medicaid home and community-based services waivers that expand eligibility criteria and available services for children with autism spectrum disorder. Although previous research has shown considerable variation in these waivers, little is known about the programs’ impact on parents’ workforce participation. We used nationally representative survey data combined with detailed information on state Medicaid waiver programs to determine the effects of waivers on whether parents of children with autism spectrum disorder had to stop working because of the child’s condition. Increases in the Medicaid home and community-based services waiver cost limit and enrollment limit significantly reduced the likelihood that a parent had to stop working, although the results varied considerably by household income level. These findings suggest that the Medicaid waivers are effective policies to address the care-related needs of children with autism spectrum disorder.
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16. Luo C, Burns E, Xu H. {{Association between autistic traits and emotion adaptation to partially occluded faces}}. {Vision Res};2017 (Feb 03)
Prolonged exposure to an emotional face (e.g., a happy face) leads to a repulsive bias in the emotion perception of subsequently presented faces (e.g., they are perceived as sadder). These shifts in perception are known as facial emotion aftereffects (FEA). People with autism spectrum disorders and their relatives have diminished holistic perception of complex objects. Levels of autism can be measured continuously in the general population in the form of autistic traits. Prior work has failed to find any association between levels of autism and FEA in adults, possibly due to non-holistic processing strategies employed by those at the higher end of the spectrum. In the present study, we set out to test whether autistic traits, as measured using the autism-quotient, were associated with FEA to partially occluded faces. We hypothesized that inferring the emotion from such faces would require participants to process their viewable parts as a gestalt percept, thus we expected this ability to diminish as autistic traits increased. In the first experiment, we partially occluded the adapting faces with aligned or misaligned opaque bars. Both conditions produced significant FEA, with aftereffect magnitudes and autistic traits negatively correlated. In the second experiment, we adapted participants to obscured faces that flickered in luminance, and manipulated the facilitation of holistic perception by varying the synchronization of this flickering between the viewable facial parts. We found significant FEA in all conditions, but abolished its association with autistic traits. In a final experiment, we showed that the association between AQ and FEA in the aligned occluded condition in Experiment 1 was not due to the recognizability or perceived emotional intensity of our adaptors; although the general FEA to adaptors across all conditions did seem to be linked to their perceived emotional intensity. These findings support the suggestion that increasing levels of autism are associated with diminishing abilities to perceive emotional faces as a gestalt percept.
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17. McLaren J, Lichtenstein JD, Lynch D, Becker D, Drake R. {{Individual Placement and Support for People with Autism Spectrum Disorders: A Pilot Program}}. {Adm Policy Ment Health};2017 (Feb 07)
Young adults with autism spectrum disorder (ASD) experience significant rates of unemployment and underemployment, and the field needs an inexpensive, evidence-based vocational intervention. We examined an approach developed for people with serious mental illness, IPS supported employment, for young adults with ASD. We described a pilot IPS program for young adults with ASD and evaluated the first five participants over 1 year. The first five IPS participants succeeded in competitive employment, expanded independence, and achieved broad psychosocial gains. IPS could help young adults with ASD succeed in competitive employment at a relatively low cost.
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18. Meyza KZ, Blanchard DC. {{The BTBR mouse model of idiopathic autism – current view on mechanisms}}. {Neurosci Biobehav Rev};2017 (Feb 03)
Autism spectrum disorder (ASD) is the most commonly diagnosed neurodevelopmental disorder, with current estimates of more than 1% of affected children across nations. The patients form a highly heterogeneous group with only the behavioral phenotype in common. The genetic heterogeneity is reflected in a plethora of animal models representing multiple mutations found in families of affected children. Despite many years of scientific effort, for the majority of cases the genetic cause remains elusive. It is therefore crucial to include well-validated models of idiopathic autism in studies searching for potential therapeutic agents. One of these models is the BTBR T+Itpr3tf/J mouse. The current review summarizes data gathered in recent research on potential molecular mechanisms responsible for the autism-like behavioral phenotype of this strain.
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19. Monteiro P, Feng G. {{SHANK proteins: roles at the synapse and in autism spectrum disorder}}. {Nat Rev Neurosci};2017 (Feb 09)
Several large-scale genomic studies have supported an association between cases of autism spectrum disorder and mutations in the genes SH3 and multiple ankyrin repeat domains protein 1 (SHANK1), SHANK2 and SHANK3, which encode a family of postsynaptic scaffolding proteins that are present at glutamatergic synapses in the CNS. An evaluation of human genetic data, as well as of in vitro and in vivo animal model data, may allow us to understand how disruption of SHANK scaffolding proteins affects the structure and function of neural circuits and alters behaviour.
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20. Pandey S, Pruitt K. {{Functional assessment of MeCP2 in Rett syndrome and cancers of breast, colon and prostate}}. {Biochem Cell Biol};2016 (Nov 10)
Ever since the first report that mutations in methyl-CpG-binding protein 2 (MeCP2) causes Rett syndrome (RTT), a severe neurological disorder in females world-wide, there has been a keen interest to gain a comprehensive understanding of this protein. While the classical model associated with MeCP2 function suggests its role in gene suppression via recruitment of co-repressor complexes and histone deacetylases to methylated CpG-sites, recent discoveries have brought to light its role in transcription activation, modulation of RNA splicing and chromatin compaction. Various post-translational modifications (PTMs) of MeCP2 further increase its functional versatility. Involvement of MeCP2 in pathologies other than RTT, such as tumorigenesis however, remains poorly explored and understood. This review provides a survey of the literature implicating MeCP2 in breast, colon and prostate cancer.
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21. Peixoto S, Melo JB, Ferrao J, Pires LM, Lavoura N, Pinto M, Oliveira G, Carreira IM. {{MLPA analysis in a cohort of patients with autism}}. {Mol Cytogenet};2017;10:2.
BACKGROUND: Autism is a global neurodevelopmental disorder which generally manifests during the first 2 years and continues throughout life, with a range of symptomatic variations. Epidemiological studies show an important role of genetic factors in autism and several susceptible regions and genes have been identified. The aim of our study was to validate a cost-effective set of commercial Multiplex Ligation dependent Probe Amplification (MLPA) and methylation specific multiplex ligation dependent probe amplification (MS-MLPA) test in autistic children refered by the neurodevelopmental center and autism unit of a Paediatric Hospital. RESULTS: In this study 150 unrelated children with autism spectrum disorders were analysed for copy number variation in specific regions of chromosomes 15, 16 and 22, using MLPA. All the patients had been previously studied by conventional karyotype and fluorescence in situ hybridization (FISH) analysis for 15(q11.2q13) and, with these techniques, four alterations were identified. The MLPA technique confirmed these four and identified further six alterations by the combined application of the two different panels. CONCLUSIONS: Our data show that MLPA is a cost effective straightforward and rapid method for detection of imbalances in a clinically characterized population with autism. It contributes to strengthen the relationship between genotype and phenotype of children with autism, showing the clinical difference between deletions and duplications.
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22. Quartier A, Poquet H, Gilbert-Dussardier B, Rossi M, Casteleyn AS, Portes VD, Feger C, Nourisson E, Kuentz P, Redin C, Thevenon J, Mosca-Boidron AL, Callier P, Muller J, Lesca G, Huet F, Geoffroy V, El Chehadeh S, Jung M, Trojak B, Le Gras S, Lehalle D, Jost B, Maury S, Masurel A, Edery P, Thauvin-Robinet C, Gerard B, Mandel JL, Faivre L, Piton A. {{Intragenic FMR1 disease-causing variants: a significant mutational mechanism leading to Fragile-X syndrome}}. {Eur J Hum Genet};2017 (Feb 08)
Fragile-X syndrome (FXS) is a frequent genetic form of intellectual disability (ID). The main recurrent mutagenic mechanism causing FXS is the expansion of a CGG repeat sequence in the 5′-UTR of the FMR1 gene, therefore, routinely tested in ID patients. We report here three FMR1 intragenic pathogenic variants not affecting this sequence, identified using high-throughput sequencing (HTS): a previously reported hemizygous deletion encompassing the last exon of FMR1, too small to be detected by array-CGH and inducing decreased expression of a truncated form of FMRP protein, in three brothers with ID (family 1) and two splice variants in boys with sporadic ID: a de novo variant c.990+1G>A (family 2) and a maternally inherited c.420-8A>G variant (family 3). After clinical reevaluation, the five patients presented features consistent with FXS (mean Hagerman’s scores=15). We conducted a systematic review of all rare non-synonymous variants previously reported in FMR1 in ID patients and showed that six of them are convincing pathogenic variants. This study suggests that intragenic FMR1 variants, although much less frequent than CGG expansions, are a significant mutational mechanism leading to FXS and demonstrates the interest of HTS approaches to detect them in ID patients with a negative standard work-up.European Journal of Human Genetics advance online publication, 8 February 2017; doi:10.1038/ejhg.2016.204.
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23. Ross PD, Guy J, Selfridge J, Kamal B, Bahey N, Tanner KE, Gillingwater TH, Jones RA, Loughrey CM, McCarroll CS, Bailey ME, Bird A, Cobb S. {{Exclusive expression of MeCP2 in the nervous system distinguishes between brain and peripheral Rett syndrome-like phenotypes}}. {Hum Mol Genet};2016 (Oct 15);25(20):4389-4404.
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24. Serdarevic F, Ghassabian A, van Batenburg-Eddes T, White T, Blanken LM, Jaddoe VW, Verhulst FC, Tiemeier H. {{Infant muscle tone and childhood autistic traits: A longitudinal study in the general population}}. {Autism Res};2017 (Feb 09)
In a longitudinal population-based study of 2,905 children, we investigated if infants’ neuromotor development was associated with autistic traits in childhood. Overall motor development and muscle tone were examined by trained research assistants with an adapted version of Touwen’s Neurodevelopmental Examination between ages 2 and 5 months. Tone was assessed in several positions and items were scored as normal, low, or high tone. Parents rated their children’s autistic traits with the Social Responsiveness Scale (SRS) and the Pervasive Developmental Problems (PDP) subscale of the Child Behavior Checklist at 6 years. We defined clinical PDP if scores were >98th percentile of the norm population. Diagnosis of autism spectrum disorder (ASD) was clinically confirmed in 30 children. We observed a modest association between overall neuromotor development in infants and autistic traits. Low muscle tone in infancy predicted autistic traits measured by SRS (adjusted beta = 0.05, 95% CI for B: 0.00-0.02, P = 0.01), and PDP (adjusted beta = 0.08, 95% CI for B: 0.04-0.10, P < 0.001). Similar results emerged for the association of low muscle tone and clinical PDP (adjusted OR = 1.36, 95% CI: 1.08-1.72, P = 0.01) at age 6 years. Results remained unchanged if adjusted for child intelligence. There was no association between high muscle tone and SRS or PDP. Exclusion of children with ASD diagnosis did not change the association. This large study showed a prospective association of infant muscle tone with autistic traits in childhood. Our findings suggest that early detection of low muscle tone might be a gateway to improve early diagnosis of ASD. Autism Res 2017. (c) 2017 International Society for Autism Research, Wiley Periodicals, Inc. Lien vers le texte intégral (Open Access ou abonnement)
25. Sicherman N, Loewenstein G, Tavassoli T, Buxbaum JD. {{Grandma knows best: Family structure and age of diagnosis of autism spectrum disorder}}. {Autism};2016 (Dec 01):1362361316679632.
This pilot study estimates the effects of family structure on age of diagnosis, with the goal of identifying factors that may accelerate or delay diagnosis. We conducted an online survey with 477 parents of children with autism. In addition, we carried out novel, follow-up surveys of 196 « friends and family, » who were referred by parents. Family structure and frequency of interactions with family members have significant effects on age of diagnosis (p < 0.05). In all, 25% of parents report that other individuals indicated that their child might have a serious condition before they themselves suspected it. Moreover, around 50% of friends and family report that they suspected that the child had a serious condition before they were aware that either parent was concerned, suggesting that the clues were there to see, especially for experienced viewers. While half of those individuals shared their concerns with the parents, the other half either did not raise any concern (23%) or just "hinted" at their concern (27%). Among children with siblings, children with an older sibling are diagnosed approximately 10 months earlier (p < 0.01) than those without, and children with no siblings were diagnosed 6-8 months earlier than children with siblings (p < 0.01). Interestingly, frequent interactions with grandparents, especially grandmothers, significantly lowered the age of diagnosis by as much as 5 months (p < 0.05). While this pilot study requires replication, the results identify potential causes for accelerated or delayed diagnosis, which if better understood, could ultimately improve age of diagnosis and treatment, and hence outcomes. Lien vers le texte intégral (Open Access ou abonnement)
26. Skorich DP, Gash TB, Stalker KL, Zheng L, Haslam SA. {{Exploring the Cognitive Foundations of the Shared Attention Mechanism: Evidence for a Relationship Between Self-Categorization and Shared Attention Across the Autism Spectrum}}. {J Autism Dev Disord};2017 (Feb 09)
The social difficulties of autism spectrum disorder (ASD) are typically explained as a disruption in the Shared Attention Mechanism (SAM) sub-component of the theory of mind (ToM) system. In the current paper, we explore the hypothesis that SAM’s capacity to construct the self-other-object relations necessary for shared-attention arises from a self-categorization process, which is weaker among those with more autistic-like traits. We present participants with self-categorization and shared-attention tasks, and measure their autism-spectrum quotient (AQ). Results reveal a negative relationship between AQ and shared-attention, via self-categorization, suggesting a role for self-categorization in the disruption in SAM seen in ASD. Implications for intervention, and for a ToM model in which weak central coherence plays a role are discussed.
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27. South M, Rodgers J. {{Sensory, Emotional and Cognitive Contributions to Anxiety in Autism Spectrum Disorders}}. {Front Hum Neurosci};2017;11:20.
Severe symptoms of anxiety add substantial additional burden to many individuals diagnosed with Autism Spectrum Disorder (ASD). Improved understanding of specific factors that contribute to anxiety in ASD can aid research regarding the causes of autism and also provide targets for more effective intervention. This mini-review article focuses on emerging evidence for three concepts that appear to be related to each other and which also strongly predict anxiety in ASD samples. Atypical sensory function is included in the diagnostic criteria for ASD and is likely an important contributor to anxiety. Difficulties in understanding and labeling emotions (alexithymia), although a co-morbidity, may arise in part from atypical sensory function and can lead to confusion and uncertainty about how to respond to social and emotional situations. Intolerance of uncertainty(IU) describes people who have a particularly hard time with ambiguity and is known to be a key mechanism underlying some anxiety disorders. While evidence for linking these ideas is to date incomplete, we put forward a model including each concept as a framework for future studies. Specifically, we propose that IU is a critical mediator for anxiety in ASD, and explore the relationships between sensory function, alexithymia and IU. We further explore the role of the medial prefrontal cortex (mPFC) in regulating emotional response, in connection with limbic and insula-based networks, and suggest that disrupted integration in these networks underlies difficulties with habituation to strong emotional stimuli, which results in an enhanced perception of threat in many people with ASD. Behavioral and biologically-based treatments for anxiety in ASD will benefit from attending to these specific mechanisms as adjunct to traditional interventions.
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28. Srisawasdi P, Vanwong N, Hongkaew Y, Puangpetch A, Vanavanan S, Intachak B, Ngamsamut N, Limsila P, Sukasem C, Kroll MH. {{Impact of risperidone on leptin and insulin in children and adolescents with autistic spectrum disorders}}. {Clin Biochem};2017 (Feb 03)
OBJECTIVE: To evaluate the influence of dose and duration of risperidone treatment on cardiovascular and diabetes risk biomarkers in children and adolescents with autistic spectrum disorders (ASDs). DESIGN AND METHODS: In this cross-sectional analysis, a total of 168 ASDs patients (89% male) treated with a risperidone-based regimen for >/=12months were included. Blood samples were analyzed for glucose and lipid metabolic markers, adiponectin, leptin, prolactin, cortisol and high sensitive C-reactive protein. RESULTS: The mean concentrations of glucose, insulin, prolactin and leptin and HOMA-IR significantly rose with risperidone dosage (all P<0.025), but those of adiponectin and cortisol did not. Using regression analysis, insulin, leptin, prolactin and glucose concentrations and HOMA-IR show significant association with dosage. None of the markers except adiponectin showed dependence on duration of treatment. However, insulin and leptin concentrations and HOMA-IR clearly increased with increasing both dosage and duration. Dosage and duration of treatment had minimal effect on standard lipid profile and lipoprotein subclasses. CONCLUSIONS: Risperidone treatment disturbed glucose homeostasis and endocrine regulation (particularly leptin) in children and adolescents with ASDs, in a dose- and duration-dependent manner, being suggestive of leptin and insulin resistance mechanisms. Metabolic adverse effects, especially development of type 2 diabetes mellitus should be closely monitored, particularly in individuals receiving high doses and/or long-term risperidone treatment. Lien vers le texte intégral (Open Access ou abonnement)
29. Stuart EA, McGinty EE, Kalb L, Huskamp HA, Busch SH, Gibson TB, Goldman H, Barry CL. {{Increased Service Use Among Children With Autism Spectrum Disorder Associated With Mental Health Parity Law}}. {Health Aff (Millwood)};2017 (Feb 01);36(2):337-345.
Health care services for children with autism spectrum disorder are often expensive and frequently not covered under private health insurance. The 2008 Paul Wellstone and Pete Domenici Mental Health Parity and Addiction Equity Act was viewed as a possible means of improving access by eliminating differences between behavioral health and medical/surgical benefits. We examined whether the legislation was associated with increased use of and spending on mental health care and functional services for children with autism spectrum disorder compared to the period prior to implementation of the law. We used nationwide health insurance commercial group claims data to examine trends in service use and spending among children with autism spectrum disorder before and after implementation of the law. For such children, implementation was associated with increased use of both mental health and non-mental health services. These increases in use were not associated with higher out-of-pocket spending, which suggests that the law improved financial protection for families.
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30. Telman LG, van Steensel FJ, Maric M, Bogels SM. {{Are Anxiety Disorders in Children and Adolescents Less Impairing Than ADHD and Autism Spectrum Disorders? Associations with Child Quality of Life and Parental Stress and Psychopathology}}. {Child Psychiatry Hum Dev};2017 (Feb 07)
We compared clinically referred children with anxiety disorders (AD; n = 63) to children with autism spectrum disorder (ASD; n = 39), ADHD Combined (ADHD-C; n = 62), ADHD Predominantly Inattentive (ADHD-I; n = 64), and typically developing children (n = 42) on child quality of life (QOL), paternal and maternal psychopathology and parental stress. Diagnoses were based on DSM-IV-TR criteria. Multilevel analyses showed that QOL in AD was higher on school and social functioning, compared to respectively ADHD and ASD, and lower compared to normal controls on all five domains. Fathers reported their AD children higher QOL than mothers. Also, AD appeared to be associated with less parental stress and parental psychopathology than other child psychopathology. Therefore, parental factors may need to be considered more in treatment of children with ADHD/ASD than AD.
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31. Vidal MC, Sato JR, Balardin JB, Takahashi DY, Fujita A. {{ANOCVA in R: A Software to Compare Clusters between Groups and Its Application to the Study of Autism Spectrum Disorder}}. {Front Neurosci};2017;11:16.
Understanding how brain activities cluster can help in the diagnosis of neuropsychological disorders. Thus, it is important to be able to identify alterations in the clustering structure of functional brain networks. Here, we provide an R implementation of Analysis of Cluster Variability (ANOCVA), which statistically tests (1) whether a set of brain regions of interest (ROI) are equally clustered between two or more populations and (2) whether the contribution of each ROI to the differences in clustering is significant. To illustrate the usefulness of our method and software, we apply the R package in a large functional magnetic resonance imaging (fMRI) dataset composed of 896 individuals (529 controls and 285 diagnosed with ASD-autism spectrum disorder) collected by the ABIDE (The Autism Brain Imaging Data Exchange) Consortium. Our analysis show that the clustering structure of controls and ASD subjects are different (p < 0.001) and that specific brain regions distributed in the frontotemporal, sensorimotor, visual, cerebellar, and brainstem systems significantly contributed (p < 0.05) to this differential clustering. These findings suggest an atypical organization of domain-specific function brain modules in ASD. Lien vers le texte intégral (Open Access ou abonnement)
32. Ward A, Arola N, Bohnert A, Lieb R. {{Social-emotional adjustment and pet ownership among adolescents with autism spectrum disorder}}. {J Commun Disord};2017 (Jan 25);65:35-42.
Adolescents with Autism Spectrum Disorder (ASD) often experience poor social-emotional adjustment and interactions with peers, but taking care of a family pet may serve as a buffer. This study utilized 81 parent-adolescent dyads to examine how dimensions of pet ownership (responsibility, comfort, companionship) may be associated with social-emotional adjustment (depression, loneliness, friendship quality) among adolescents with ASD, as well as how social impairments may influence these relations. Results revealed that adolescents who took more responsibility for their pet exhibited fewer depressive symptoms. Additionally, parents of more socially impaired adolescents reported better friendship quality than less socially impaired adolescents. Findings suggest taking care of a pet may facilitate better social-emotional adjustment among adolescents with ASD.
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33. Weber CL. {{Understanding fragile X syndrome from a mother’s perspective: Challenges and resilience}}. {Int J Qual Stud Health Well-being};2016 (Jan);11(1):29512.
The purpose of this study is to communicate findings from a case study on a South African mother with three children diagnosed with full mutation fragile X syndrome (FXS). The participant is an unaffected carrier of FXS. Research has shown that mothers of children with FXS often experience high levels of parenting stress and low levels of psychological well-being. However, observations made have piqued curiosity about their positivity and determination to carry on each day raising children diagnosed with FXS. The aim is to develop a better understanding of the manner in which a mother of children with FXS make sense of her situation, to gain further insight into the specific resilience processes she acquired. A qualitative case study approach was followed, gathering data through semi-structured interviews based on open-ended questions. The findings offer new insights into a South African mother’s life raising children with FXS. Even though there is very limited support and little awareness of FXS in South Africa, she still found ways to seek help, and find solutions to every day challenges. The study conclusions discourage blind stereotyping of mothers of children with FXS as vulnerable only. Future research should concentrate on promoting awareness, education, advocacy, and support for individuals with FXS in South Africa.
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34. Xiang AH. {{Association of Maternal Diabetes With Autism in Offspring}}. {Jama};2017 (Feb 07);317(5):537-538.
