1. {{Autism Spectrum Disorder}}. {Am Fam Physician}. 2016; 94(12): Online.
2. Akins MR, Berk-Rauch HE, Kwan KY, Mitchell ME, Shepard KA, Korsak LI, Stackpole EE, Warner-Schmidt JL, Sestan N, Cameron HA, Fallon JR. {{Axonal ribosomes and mRNAs associate with fragile X granules in adult rodent and human brains}}. {Hum Mol Genet}. 2017.
Local mRNA translation in growing axons allows for rapid and precise regulation of protein expression in response to extrinsic stimuli. However, the role of local translation in mature CNS axons is unknown. Such a mechanism requires the presence of translational machinery and associated mRNAs in circuit-integrated brain axons. Here we use a combination of genetic, quantitative imaging and super-resolution microscopy approaches to show that mature axons in the mammalian brain contain ribosomes, the translational regulator FMRP and a subset of FMRP mRNA targets. This axonal translational machinery is associated with Fragile X granules (FXGs), which are restricted to axons in a stereotyped subset of brain circuits. FXGs and associated axonal translational machinery are present in hippocampus in humans as old as 57 years. This FXG-associated axonal translational machinery is present in adult rats, even when adult neurogenesis is blocked. In contrast, in mouse this machinery is only observed in juvenile hippocampal axons. This differential developmental expression was specific to the hippocampus, as both mice and rats exhibit FXGs in mature axons in the adult olfactory system. Experiments in Fmr1 null mice show that FMRP regulates axonal protein expression but is not required for axonal transport of ribosomes or its target mRNAs. Axonal translational machinery is thus a feature of adult CNS neurons. Regulation of this machinery by FMRP could support complex behaviours in humans throughout life.
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3. Coderre EL, Chernenok M, Gordon B, Ledoux K. {{Linguistic and Non-Linguistic Semantic Processing in Individuals with Autism Spectrum Disorders: An ERP Study}}. {J Autism Dev Disord}. 2017.
Individuals with autism spectrum disorders (ASD) experience difficulties with language, particularly higher-level functions like semantic integration. Yet some studies indicate that semantic processing of non-linguistic stimuli is not impaired, suggesting a language-specific deficit in semantic processing. Using a semantic priming task, we compared event-related potentials (ERPs) in response to lexico-semantic processing (written words) and visuo-semantic processing (pictures) in adults with ASD and adults with typical development (TD). The ASD group showed successful lexico-semantic and visuo-semantic processing, indicated by similar N400 effects between groups for word and picture stimuli. However, differences in N400 latency and topography in word conditions suggested different lexico-semantic processing mechanisms: an expectancy-based strategy for the TD group but a controlled post-lexical integration strategy for the ASD group.
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4. Gadow KD, Perlman G, Weber RJ. {{Parent-Reported Developmental Regression in Autism: Epilepsy, IQ, Schizophrenia Spectrum Symptoms, and Special Education}}. {J Autism Dev Disord}. 2017.
Examined the psychiatric and clinical correlates of loss of previously acquired skills (regression) as reported by parents of youth with autism spectrum disorder (ASD). Study sample comprised 6- to 18-year old (N = 213) children and adolescents with ASD. Parents reported regression in 77 (36%) youth. A more homogeneous subgroup with regression between 18 and 36 months (n = 48) had higher rates of intellectual disability, epilepsy, and special education, more socially restrictive educational settings, and more severe ASD communication deficits and schizophrenia spectrum symptoms than non-regressed youth (n = 136). Similar results were obtained for a more inclusive definition of regression (n = 77). A brief parent report of developmental regression may be a useful clinical indicator of later general functioning.
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5. Huri M, Sahin S, Kayihan H. {{Investigation of hand function among children diagnosed with autism spectrum disorder with upper extremity trauma history}}. {Ulus Travma Acil Cerrahi Derg}. 2016; 22(6): 559-65.
BACKGROUND: The present study was designed to compare hand function in autistic children with history of upper extremity trauma with that of autistic children those who do not have history of trauma. METHODS: The study group included total of 65 children diagnosed with autism spectrum disorder (ASD) and was divided into 2 groups: children with trauma history (Group I) and control group (Group II) (Group I: n=28; Group II: n=37). Hand function was evaluated with 9-Hole Peg Test and Jebsen Hand Function Test. Somatosensory function was evaluated using somatosensory subtests of Sensory Integration and Praxis Test. Results were analyzed with Student’s t-test and Mann-Whitney U test using SPSS version 20 software. RESULTS: Hand function and somatosensory perception test scores were statistically significantly better in children without upper extremity trauma history (p<0.05). When association between hand function tests and upper extremity somatosensory perception tests was taken into account, statistically significant correlations were found between all parameters of hand function tests and Manual Form Perception and Localization of Tactile Stimuli Test results (p<0.05). CONCLUSION: Autistic children with upper extremity trauma history had poor somatosensory perception and hand function. It is important to raise awareness among emergency service staff and inform them about strong relationship between somatosensory perception, hand function, and upper extremity trauma in children with ASD in order to develop appropriate rehabilitation process and prevent further trauma. Lien vers Pubmed
6. Malhi P, Venkatesh L, Bharti B, Singhi P. {{Feeding Problems and Nutrient Intake in Children with and without Autism: A Comparative Study}}. {Indian J Pediatr}. 2017.
OBJECTIVE: To compare parent reported feeding difficulties and nutritional adequacy of children with Autism Spectrum Disorders (ASD) to an age and socio-economically matched group of typically developing children. METHODS: The scores on Children’s Eating Behavior Inventory (CEBI), three-day food records, anthropometric measures and adequacy of micro- and macro- nutrients were compared for 63 children diagnosed with ASD and 50 typically developing children enrolled from the department of pediatrics of a tertiary care teaching hospital from North India. RESULTS: The majority (79%) of the parents of ASD children reported some concern regarding their feeding behavior as compared to 64% of the parents of typically developing children. As compared to controls, ASD children had significantly higher CEBI scores (97.28 vs. 89.48, t = 3.15, P = 0.002) and more feeding problems (6.42 vs. 2.70, t = 3.74, P = 0.001). Relative to controls, ASD children consumed fewer number of food items (P = 0.022), particularly fruits (P = 0.004), vegetables (P = 0.011), and proteins (P = 0.015); had significantly lower daily intake of potassium (P = 0.001), copper (P = 0.007), and folate (P = 0.001). Although children with autism did not differ significantly from controls on intake of calories, height, weight, or body mass index, significantly greater proportion of ASD children failed to meet the estimated average requirement of thiamine (P = 0.039), vitamin C (P = 0.013), and copper (P = 0.005). CONCLUSIONS: The findings underscore the need for comprehensive assessment and empirically-supported interventions for eating problems and dietary deficiencies found in ASD children.
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7. Meguid NA, Anwar M, Bjorklund G, Hashish A, Chirumbolo S, Hemimi M, Sultan E. {{Dietary adequacy of Egyptian children with autism spectrum disorder compared to healthy developing children}}. {Metab Brain Dis}. 2017.
Although the etiology and pathology of autism spectrum disorder (ASD) is still poorly understood, a number of environmental, anthropological, neurobiological and genetic factors have been related to the pathophysiology of ASD, even the impact of oxidative stress response related to the environment and nutrition intake. Usual recommended dietary habits are based on the combination of behavioral and dietary or nutraceutical interventions together with pharmacotherapy. Investigations about a reliable relationship between diet and ASD are still lacking. The present study aimed at comparing dietary regimens and habits of normally developing apparently healthy children, without diagnosed ASD, with a pediatric population of individuals affected by autistic disorder. Assessments of nutritional and anthropometric data, in addition to biochemical evaluation for nutrient deficiencies, were performed. A total of 80 children with autistic disorder and 80 healthy, normally developing pediatric individuals were enrolled in the study. Parents were asked to complete the standardized questionnaire regarding the different types of food and the proportion of a serving for their children. Biochemical analysis of micro- and macronutrients were also done. Plotting on the Egyptian sex-specific anthropometric growth (auximetric) chart, absolute weights as well as weight-related for age classes, were significantly higher in cases than healthy controls. No differences between groups were observed in regard to total kilocalories (kcal), carbohydrates, and fat intake. A total of 23.8% of children with autistic disorder vs. 11.3% in the healthy control group had a nutrient intake with features below the Recommended Dietary Allowance (RDA) of protein. Children with autistic disorder showed low dietary intake of some micronutrients; calcium (Ca), magnesium (Mg), iron (Fe), selenium (Se) and sodium (Na), also they had significantly high intake of potassium (K) and vitamin C compared to healthy controls. Serum Mg, Fe, Ca, folate and vitamin B12 in children with autistic disorder were significantly low compared with healthy children. Significant positive correlations between serum Mg, Fe, Ca, vitamin B12 and folate and their levels in food were present. These results confirmed that different nutritional inadequacy was observed in Egyptian children with autistic disorder. The evidence reported in the present study should recommend screening of the nutritional status of ASD children for nutrient adequacy to reduce these deficiencies by dietary means or by administering appropriate vitamin and mineral supplements. Nutritional intervention plan should be tailored to address specific needs.
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8. Mertens J, Zane ER, Neumeyer K, Grossman RB. {{How Anxious Do You Think I Am? Relationship Between State and Trait Anxiety in Children With and Without ASD During Social Tasks}}. {J Autism Dev Disord}. 2017.
Individuals with autism spectrum disorder (ASD) often exhibit increased anxiety, even in non-stressful situations. We investigate general anxiousness (anxiety trait) and responses to stressful situations (anxiety state) in 22 adolescents with ASD and 32 typically developing controls. We measured trait anxiety with standardized self- and parent-reported questionnaires. We used a Biopac system to capture state anxiety via skin conductance responses, mean heart rate and heart rate variability during high- and low-anxiety tasks. Results reveal higher trait anxiety in adolescents with ASD (p < 0.05) and no group difference in state anxiety. Increased parent-reported trait anxiety may predict decreased state anxiety during high-stress conditions. Together, these findings suggest that higher trait anxiety may result in dampened physical responses to stress. Lien vers le texte intégral (Open Access ou abonnement)
9. Mitra I, Lavillaureix A, Yeh E, Traglia M, Tsang K, Bearden CE, Rauen KA, Weiss LA. {{Reverse Pathway Genetic Approach Identifies Epistasis in Autism Spectrum Disorders}}. {PLoS Genet}. 2017; 13(1): e1006516.
Although gene-gene interaction, or epistasis, plays a large role in complex traits in model organisms, genome-wide by genome-wide searches for two-way interaction have limited power in human studies. We thus used knowledge of a biological pathway in order to identify a contribution of epistasis to autism spectrum disorders (ASDs) in humans, a reverse-pathway genetic approach. Based on previous observation of increased ASD symptoms in Mendelian disorders of the Ras/MAPK pathway (RASopathies), we showed that common SNPs in RASopathy genes show enrichment for association signal in GWAS (P = 0.02). We then screened genome-wide for interactors with RASopathy gene SNPs and showed strong enrichment in ASD-affected individuals (P < 2.2 x 10-16), with a number of pairwise interactions meeting genome-wide criteria for significance. Finally, we utilized quantitative measures of ASD symptoms in RASopathy-affected individuals to perform modifier mapping via GWAS. One top region overlapped between these independent approaches, and we showed dysregulation of a gene in this region, GPR141, in a RASopathy neural cell line. We thus used orthogonal approaches to provide strong evidence for a contribution of epistasis to ASDs, confirm a role for the Ras/MAPK pathway in idiopathic ASDs, and to identify a convergent candidate gene that may interact with the Ras/MAPK pathway. Lien vers le texte intégral (Open Access ou abonnement)
10. Nilchian F, Shakibaei F, Jarah ZT. {{Evaluation of Visual Pedagogy in Dental Check-ups and Preventive Practices Among 6-12-Year-Old Children with Autism}}. {J Autism Dev Disord}. 2017.
This study was aimed to evaluate the impact of visual pedagogy in dental check-ups and preventive practices among children with autism aged 6-12. In this randomized double-blind clinical trial, the cooperation of 40 children with autism age 6-12. The selected children were equally divided into two groups of case and control (n = 20). The obtained data were analyzed by statistical tests, including Chi square and independent t test. The results of Cochran showed a significant increase in children’s cooperation with regard to fluoride therapy in the case group by repeating the visit and training sessions (p Lien vers le texte intégral (Open Access ou abonnement)
11. Rotholz DA, Kinsman AM, Lacy KK, Charles J. {{Improving Early Identification and Intervention for Children at Risk for Autism Spectrum Disorder}}. {Pediatrics}. 2017.
OBJECTIVES: To provide an example of a successful, novel statewide effort to increase early identification of young children at risk for autism spectrum disorder (ASD) using a 2-tiered screening process with enhanced quality assessment, interagency policy collaboration and coordination. METHODS: The South Carolina Act Early Team (SCAET) provided focused collaboration among leaders representing state agencies, universities, health care systems, private organizations, and families to improve quality of life for children with ASD. Specific focus was on implementing policy changes and training to result in earlier identification and home-based behavioral intervention for young children at risk for ASD. RESULTS: Policy changes, training, and modified state agency practices were accomplished. Presumptive eligibility, on the basis of a 2-tiered screening process was implemented by BabyNet (South Carolina’s Early Intervention Program) in collaboration with the lead agency for developmental disability services. There was a fivefold increase in children eligible for early intensive behavioral intervention without waiting for a diagnosis of ASD, avoiding long waits for diagnostic evaluations. Only 16 children (2.5%) were later found not to have ASD from a comprehensive evaluation. CONCLUSIONS: Improvements in early identification and intervention are feasible through collaborative policy change. The South Carolina Act Early Team and its key stakeholders committed to improving outcomes for this population used existing tools and methods in new ways to improve early identification of children with ASD and to make available evidence-based intervention services. This example should be replicable in other states with key stakeholders working collaboratively for the benefit of young children with ASD.
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12. Sanchack KE, Thomas CA. {{Autism Spectrum Disorder: Primary Care Principles}}. {Am Fam Physician}. 2016; 94(12): 972-9.
Autism spectrum disorder is characterized by difficulty with social communication and restricted, repetitive patterns of behavior, interest, or activities. The Diagnostic and Statistical Manual of Mental Disorders, 5th ed., created an umbrella diagnosis that includes several previously separate conditions: autistic disorder, Asperger syndrome, childhood disintegrative disorder, and pervasive developmental disorder not otherwise specified. There is insufficient evidence to recommend screening for autism spectrum disorder in children 18 to 30 months of age in whom the disorder is not suspected; however, there is a growing body of evidence that early intensive behavioral intervention based on applied behavior analysis improves cognitive ability, language, and adaptive skills. Therefore, early identification of autism spectrum disorder is important, and experts recommend the use of a validated screening tool at 18- and 24-month well-child visits. Medications can be used as adjunctive treatment for maladaptive behaviors and comorbid psychiatric conditions, but there is no single medical therapy that is effective for all symptoms of autism spectrum disorder. Prognosis is heavily affected by the severity of diagnosis and the presence of intellectual disability. Children with optimal outcomes receive earlier, more intensive behavioral interventions and less pharmacologic treatment.
13. Singh R, Turner RC, Nguyen L, Motwani K, Swatek M, Lucke-Wold BP. {{Pediatric Traumatic Brain Injury and Autism: Elucidating Shared Mechanisms}}. {Behav Neurol}. 2016; 2016: 8781725.
Pediatric traumatic brain injury (TBI) and autism spectrum disorder (ASD) are two serious conditions that affect youth. Recent data, both preclinical and clinical, show that pediatric TBI and ASD share not only similar symptoms but also some of the same biologic mechanisms that cause these symptoms. Prominent symptoms for both disorders include gastrointestinal problems, learning difficulties, seizures, and sensory processing disruption. In this review, we highlight some of these shared mechanisms in order to discuss potential treatment options that might be applied for each condition. We discuss potential therapeutic and pharmacologic options as well as potential novel drug targets. Furthermore, we highlight advances in understanding of brain circuitry that is being propelled by improved imaging modalities. Going forward, advanced imaging will help in diagnosis and treatment planning strategies for pediatric patients. Lessons from each field can be applied to design better and more rigorous trials that can be used to improve guidelines for pediatric patients suffering from TBI or ASD.
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14. Spear MA, Karsten A, White EA. {{Restricted Interests and Autism}}. {Behav Modif}. 2017: 145445516686301.
Researchers have yet to identify the conditions under which people diagnosed with autism spectrum disorder demonstrate restricted interests; it is possible that the impression of restricted interests is strengthened when a limited variety of items are included in a client’s preference assessments. This study will extend past research on preferences of children with autism by (a) examining participants’ preferences for unreplenished (familiar) play or leisure items versus items that are replenished frequently, (b) assessing if participants who prefer replenished items select items with properties that are matched or unmatched to their most preferred unreplenished item, and (c) assessing if participants who show an exclusive preference for unreplenished items will select replenished items during response-restriction and enhanced-replenished pool manipulations. Participants were four adolescents with autism and a caregiver-reported history of restricted interests. One participant selected both unreplenished (familiar) items and replenished (novel) items without further manipulations. The remaining three participants only selected replenished-matched leisure items after additional manipulations. Results are discussed in terms of the ethical and practical importance of assessing a range of potential reinforcers, particularly with clients who demonstrate restricted interests.
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15. Thurman AJ, McDuffie A, Hagerman RJ, Josol CK, Abbeduto L. {{Language Skills of Males with Fragile X Syndrome or Nonsyndromic Autism Spectrum Disorder}}. {J Autism Dev Disord}. 2017.
Despite the similarities observed between the fragile X syndrome (FXS) and autism spectrum disorder (ASD) phenotypes, few studies have compared their behavioral profiles outside of ASD symptomatology. In the present study, we sought to compare lexical and grammatical abilities in these two conditions. Comparisons of language abilities in both of these conditions are particularly interesting because both conditions are characterized by difficulties navigating social interactions. Results suggest that although both FXS and ASD are associated with language difficulties, there are important differences between the two conditions in terms of the language profiles observed and the factors influencing language when considering children of similar developmental levels. Theoretical implications are discussed.
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16. U MS, Rauh R. {{What Difference Does It Make? Implicit, Explicit and Complex Social Cognition in Autism Spectrum Disorders}}. {J Autism Dev Disord}. 2017.
We tested social cognition abilities of adolescents with autism spectrum disorders (ASD) and neurotypically developed peers (NTD). A multi-faceted test-battery including facial emotion categorization (FEC), classical false belief tasks (FBT), and complex social cognition (SC), yielded significantly lower accuracy rates for FEC and complex SC tasks in ASD, but no significant differences in performance concerning FBT. A significant correlation between age and performance in a FEC task and in a complex task was found only in ASD. We propose that dynamic and/or fragmented FEC tasks can elicit deficits in implicit processing of facial emotion more efficiently. The difficulties of ASD in solving complex SC tasks can be ascribed to deficits in the acquisition and application of social schemata.
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17. Vasconcelos GC, Parlato-Oliveira EM. {{Visual impairment and autism in children: when the ophthalmologist makes the difference}}. {Arq Bras Oftalmol}. 2016; 79(6): V.
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18. Walsh C, Jones B, Schonwald A. {{Health Care Transition Planning Among Adolescents with Autism Spectrum Disorder}}. {J Autism Dev Disord}. 2017.
Improving the health care transition process for youth with autism spectrum disorder (ASD) is critically important. This study was designed to examine the overall national transition core outcome among youth with ASD and each of the component measures of health care transition planning. Fewer than 10% of youth with ASD meet the national transition core outcome. Among youth with ASD, there is greater disparity in health care transition planning for non-Hispanic black youth, youth with family income <400% of the federal poverty line, and youth with more severe activity limitation. Continued advocacy, research, and training efforts are needed to reduce disparities in receipt of health care transition planning services for youth with ASD. Lien vers le texte intégral (Open Access ou abonnement)
19. Warren SF, Brady N, Fleming KK, Hahn LJ. {{The Longitudinal Effects of Parenting on Adaptive Behavior in Children with Fragile X Syndrome}}. {J Autism Dev Disord}. 2017.
Several studies have reported declines in adaptive behavior amongst children with fragile X syndrome (FXS) starting in middle childhood. We examined the effects of maternal responsivity on adaptive behavior in 55 children with FXS visited 5-6 times in their homes from early through middle childhood. Our analyses indicated that sustained maternal responsivity had a significant positive impact on the trajectories of communication and to a lesser extent other adaptive behavior domains through middle childhood with many effects remaining significant after controlling for autism symptoms and developmental level. For children who showed declines in adaptive behavior during middle childhood, sustained high levels of maternal responsivity minimized the amount of decline observed in the communication, socialization, and daily living domains.
