1. Barber C. {{Autism spectrum network}}. {Nurs Stand}. 2017; 31(44): 30.
I was unable to attend this year’s RCN congress, but as a nurse with Asperger’s syndrome I followed the congress autism resolution debate with interest (‘More research for autism,’ say nurses across disciplines, online news, 16 May).
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2. Barkocy M, Dexter J, Petranovich C. {{Kinematic Gait Changes Following Serial Casting and Bracing to Treat Toe Walking in a Child With Autism}}. {Pediatr Phys Ther}. 2017; 29(3): 270-4.
PURPOSE: To evaluate the effectiveness of serial casting in a child with autism spectrum disorder (ASD) exhibiting a toe-walking gait pattern with equinus contractures. SUMMARY OF KEY POINTS: Although many children with ASD toe walk, little research on physical therapy interventions exists for this population. Serial casting has been validated for use in idiopathic toe walking to increase passive dorsiflexion and improve gait, but not for toe walking in children with ASD. Serial casting followed by ankle-foot orthosis use was implemented to treat a child with ASD who had an obligatory equinus gait pattern. Gait analysis supported improvements in kinematic, spatial, and temporal parameters of gait, and the child maintained a consistent heel-toe gait at 2-year follow-up. STATEMENT OF CONCLUSION AND RECOMMENDATIONS FOR CLINICAL PRACTICE:: Serial casting followed by ankle-foot orthosis use is a viable treatment option for toe walking in children with ASD.
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3. Colebourn JA, Golub-Victor AC, Paez A. {{Developing Overhand Throwing Skills for a Child With Autism With a Collaborative Approach in School-Based Therapy}}. {Pediatr Phys Ther}. 2017; 29(3): 262-9.
PURPOSE: This case report presents an interdisciplinary approach in school-based therapy, combining physical therapy and applied behavior analysis to improve the motor skills and the participation in recreational activities of a child with autism spectrum disorder. METHODS: A 9-year-old child with autism spectrum disorder participated in a 20-week gross motor intervention designed to improve the child’s overhand throwing ability, which included weekly physical therapy instruction and daily throwing trials using applied behavior analysis approaches. RESULTS: The child demonstrated gains in throwing accuracy, significant gains on measures of the Bruininks-Oseretsky Test of Motor Proficiency-2, the Test of Gross Motor Development-2, and the School Function Assessment. CONCLUSION: This unique approach in school-based therapy demonstrates effective strategies for a multidisciplinary intervention to improve motor learning skills and participation in recreational activities in the school setting.
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4. de Lacy N, Doherty D, King BH, Rachakonda S, Calhoun VD. {{Disruption to control network function correlates with altered dynamic connectivity in the wider autism spectrum}}. {Neuroimage Clin}. 2017; 15: 513-24.
Autism is a common developmental condition with a wide, variable range of co-occurring neuropsychiatric symptoms. Contrasting with most extant studies, we explored whole-brain functional organization at multiple levels simultaneously in a large subject group reflecting autism’s clinical diversity, and present the first network-based analysis of transient brain states, or dynamic connectivity, in autism. Disruption to inter-network and inter-system connectivity, rather than within individual networks, predominated. We identified coupling disruption in the anterior-posterior default mode axis, and among specific control networks specialized for task start cues and the maintenance of domain-independent task positive status, specifically between the right fronto-parietal and cingulo-opercular networks and default mode network subsystems. These appear to propagate downstream in autism, with significantly dampened subject oscillations between brain states, and dynamic connectivity configuration differences. Our account proposes specific motifs that may provide candidates for neuroimaging biomarkers within heterogeneous clinical populations in this diverse condition.
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5. Fontaine-Sylvestre C, Roy A, Rizkallah J, Dabbagh B, Ferraz Dos Santos B. {{Prevalence of malocclusion in Canadian children with autism spectrum disorder}}. {Am J Orthod Dentofacial Orthop}. 2017; 152(1): 38-41.
INTRODUCTION: The purposes of this study were to determine the prevalence of malocclusion among children with autism spectrum disorder (ASD) and to describe the most common malocclusion traits in this population. METHODS: This cross-sectional study included patients diagnosed with ASD aged between 5 and 18 years. Randomly selected healthy children with the same demographic characteristics comprised the control group. Dental charts were reviewed to obtain the children’s sociodemographic characteristics and type of occlusion. Information on each child’s molar occlusion classification (Angle classification), midline deviation, crossbite, open bite, overbite, overjet, and crowding were recorded. The statistical analysis used descriptive analysis, the Pearson chi-square test, and multivariate logistic regression. RESULTS: Ninety-nine children comprised the ASD group, and 101 children were in the control group. Our results demonstrated a significantly higher prevalence of malocclusion in children with ASD compared with the control group (P <0.001). Patients with ASD were significantly more likely to have posterior crossbite (P = 0.03), increased overjet (P <0.0001), and severe maxillary crowding (P <0.01). Furthermore, children with ASD were more likely to have malocclusion than non-ASD children, independently of their demographic characteristics (odds ratio, 2.6; 95% confidence interval, 1.46, -4.65). CONCLUSIONS: The prevalence of malocclusion was higher among children with ASD. Posterior crossbite, increased overjet, and severe maxillary crowding were the most common malocclusion traits in these children. Lien vers le texte intégral (Open Access ou abonnement)
6. Harris SR. {{Early motor delays as diagnostic clues in autism spectrum disorder}}. {Eur J Pediatr}. 2017.
Early identification of autism facilitates referral for early intervention services, shown to be effective in enhancing parent-child interaction as well as adaptive behavior, communication, and socialization. Traditional hallmarks for the diagnosis of autism spectrum disorder (ASD) include deficits in social communication and social interaction as well as stereotypic or repetitive behavioral patterns. Research during the past decade suggests that developmental motor delays during early childhood may also be important predictors of this difficult-to-make diagnosis. The purpose of this short communication is to describe specific research findings about developmental motor delays and other neuromotor concerns that may contribute to the early diagnosis of ASD and thus hasten referral for early therapeutic intervention. CONCLUSION: In that there is reasonable consensus that motor delays during the first year of life may represent a prodrome of ASD, pediatricians should not rule out the possibility of ASD in infants with concerning motor behaviors. What is Known: * Early identification of autism facilitates referral for early intervention services. * Traditional hallmarks for diagnosis of autism spectrum disorder (ASD) include deficits in social communication and social interaction as well as repetitive patterns of behavior. What is New: * Recent research suggests that developmental motor delays during early childhood may also be important predictors of ASD. * Pediatricians should consider the possibility of ASD in infants with motor delays or other concerning motor behaviors.
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7. Jung Y, Lee AM, McKee SA, Picciotto MR. {{Maternal smoking and autism spectrum disorder: meta-analysis with population smoking metrics as moderators}}. {Sci Rep}. 2017; 7(1): 4315.
While exposure to nicotine during developmental periods can significantly affect brain development, studies examining the association between maternal smoking and autism spectrum disorder (ASD) in offspring have produced conflicting findings, and prior meta-analyses have found no significant association. Our meta-analysis used a novel approach of investigating population-level smoking metrics as moderators. The main meta-analysis, with 22 observational studies comprising 795,632 cases and 1,829,256 control participants, used a random-effects model to find no significant association between maternal smoking during pregnancy and ASD in offspring (pooled odds ratio (OR) = 1.16, 95% CI: 0.97-1.40). However, meta-regression analyses with moderators were significant when we matched pooled ORs with adult male smoking prevalence (z = 2.55, p = 0.01) in each country, using World Health Organization data. Our study shows that using population-level smoking metrics uncovers significant relationships between maternal smoking and ASD risk. Correlational analyses show that male smoking prevalence approximates secondhand smoke exposure. While we cannot exclude the possibility that our findings reflect the role of paternal or postnatal nicotine exposure, as opposed to maternal or in utero nicotine exposure, this study underlines the importance of investigating paternal and secondhand smoking in addition to maternal smoking in ASD.
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8. Matton S, Romeo GP. {{Behavioral regression in 2 patients with autism spectrum disorder and attention-deficit/hyperactivity disorder after oral surgery performed with a general anesthetic}}. {J Am Dent Assoc}. 2017; 148(7): 519-24.
BACKGROUND AND OVERVIEW: Routine dental care for people with autism spectrum disorders can be complex. There is little published on postoperative behavioral changes associated with use of general anesthetics in this population. CASE DESCRIPTION: The authors describe postoperative behavioral changes in 2 patients with autism spectrum disorder and attention deficit hyperactivity disorder that the patients’ caretakers described as regression. In both cases, behaviors representative of autism spectrum disorder and attention deficit hyperactivity disorder worsened after uncomplicated oral surgery after receipt of a general anesthetic in the operating room. In both cases, behavioral changes caused great difficulties for the patients and caretakers and were difficult to address. CONCLUSIONS AND PRACTICAL IMPLICATIONS: With little in the scientific literature, these 2 cases have a great importance for the dental care practitioner. Awareness must be raised so that further investigation can occur regarding this phenomenon.
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9. Pasha SB, Qadir TF, Fatima H, Hussain SA. {{Sesame Street’s recognition of autism}}. {Lancet Psychiatry}. 2017; 4(7): 520-1.
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10. Ryu J, Ha EH, Kim BN, Ha M, Kim Y, Park H, Hong YC, Kim KN. {{Associations of prenatal and early childhood mercury exposure with autistic behaviors at 5years of age: The Mothers and Children’s Environmental Health (MOCEH) study}}. {Sci Total Environ}. 2017; 605-606: 251-7.
BACKGROUND: Although mercury is an established neurotoxin, only few longitudinal studies have investigated the association between prenatal and early childhood mercury exposure and autistic behaviors. METHODS: We conducted a longitudinal cohort study using an ongoing prospective birth cohort initiated in 2006, wherein blood mercury levels were measured at early and late pregnancy; in cord blood; and at 2 and 3years of age. We analyzed 458 mother-child pairs. Autistic behaviors were assessed using the Social Responsiveness Scale (SRS) at 5years of age. Both continuous SRS T-scores and T-scores dichotomized by a score of >/=60 or <60 were used as outcomes. RESULTS: The geometric mean of mercury concentrations in cord blood was 5.52mug/L. In adjusted models, a doubling of blood mercury levels at late pregnancy (beta=1.84, 95% confidence interval [CI]: 0.39, 3.29), in cord blood (beta=2.24, 95% CI: 0.22, 4.27), and at 2years (beta=2.12, 95% CI: 0.54, 3.70) and 3years (beta=2.80, 95% CI: 0.89, 4.72) of age was positively associated with the SRS T-scores. When the SRS T-scores were dichotomized, we observed positive associations with mercury levels at late pregnancy (relative risk [RR]=1.31, 95% CI: 1.08, 1.60) and in cord blood (RR=1.28, 95% CI: 1.01, 1.63). CONCLUSION: We found that blood mercury levels at late pregnancy and early childhood were associated with more autistic behaviors in children at 5years of age. Further study on the long-term effects of mercury exposure is recommended. Lien vers le texte intégral (Open Access ou abonnement)
11. Siegel JJ, Chitwood RA, Ding JM, Payne C, Taylor W, Gray R, Zemelman BV, Johnston D. {{Prefrontal cortex dysfunction in Fragile X mice depends on the continued absence of Fragile X Mental Retardation Protein in the adult brain}}. {J Neurosci}. 2017.
Fragile X Syndrome (FX) is generally considered a developmental disorder, arising from a mutation that disrupts the transcription of Fragile X Mental Retardation Protein (FMRP). However, FMRP regulates the transcription of other proteins and participates in an unknown number of protein-protein interactions throughout life. In addition to known developmental issues, it is thus likely that some dysfunction is also due to the ongoing absence of FMRP. Dissociating dysfunction due to developmental dysregulation from dysfunction due to the continued absence of FMRP is necessary to understand the different roles of FMRP and to treat patients effectively throughout life. We show here that FX model mice display substantial deficits in a prefrontal cortex (PFC) dependent task. We then use conditional knockout (cKO) mice to eliminate FMRP only in the PFC alone of adult mice. We observe an increase in the proportion of non-learners and a delay in the onset of learning in both FX and cKO mice. The results suggest that these deficits 1) are due to the absence of FMRP in the PFC alone, and 2) are not the result of developmental dysregulation. Furthermore, PFC-associated deficits are rescued by initiating production of FMRP in adult conditional restoration (cON) mice, suggesting that PFC dysfunction may persist as long as FMRP is absent and therefore can be rescued post-development. The data suggest that it is possible to dissociate the roles of FMRP in neural function from developmental dysregulation, and that PFC function can be restored in the adult FX brain.SIGNIFICANCE STATEMENTThe absence of Fragile X Mental Retardation Protein (FMRP) from birth results in developmental disabilities and lifelong impairments. We show here that in mouse models prefrontal cortex (PFC) dysfunction in FX can be attributed to the continued absence of FMRP from the PFC, independent of FMRP status during development. Furthermore, initiation of FMRP production in the PFC of adult FX animals rescues PFC function. The results suggest that at least some FX-specific neurological defects can be rescued in the adult FX brain post development.
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12. Tye C, Bedford R, Asherson P, Ashwood KL, Azadi B, Bolton P, McLoughlin G. {{Callous-unemotional traits moderate executive function in children with ASD and ADHD: A pilot event-related potential study}}. {Dev Cogn Neurosci}. 2017; 26: 84-90.
Attention deficit hyperactivity disorder (ADHD) and autism spectrum disorder (ASD) are associated with varied executive function (EF) difficulties. Callous-unemotional (CU) traits, a proposed antecedent of adult psychopathy, are often associated with intact or enhanced EF. Here we test whether CU traits may therefore modulate EF in ASD and ADHD, in which EF is typically impaired. We collected CU traits and measured event-related potentials (ERPs) that index EF during a cued-continuous performance test (CPT-OX) in boys with ASD, ADHD, comorbid ASD+ADHD and typical controls. We examined attentional orienting at cues (Cue-P3), inhibitory processing at non-targets (NoGo-P3) and conflict monitoring between target and non-target trials (Go-N2 vs. NoGo-N2). In children with ASD, higher CU traits were associated with an enhanced increase in N2 amplitude in NoGo trials compared to Go trials, which suggests relatively superior conflict monitoring and a potential cognitive strength associated with CU traits. The results emphasise the importance of considering the effects of co-occurring traits in the assessment of heterogeneity of EF profiles in neurodevelopmental disorders.
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13. Yang PY, Menga YJ, Li T, Huang Y. {{Associations of endocrine stress-related gene polymorphisms with risk of autism spectrum disorders: Evidence from an integrated meta-analysis}}. {Autism Res}. 2017.
Autism spectrum disorders (ASD) are related to serotonin transporter (5-HTT) and catechol-O-methyl transferase (COMT) as two most monoaminergic polymorphic variations. However, multiple studies assessing rs4680 and 5-HTTLPR variants in ASD have reported inconsistent results. Therefore, we conducted an integrated meta-analysis to combine case-control and transmission/disequilibrium test (TDT) studies to determine whether COMT and 5-HTT are associated with ASD. We searched multiple electronic databases (PubMed, EmBase and Web of Science) to identify studies assessing the rs4680 and 5-HTTLPR variants in ASD from Jan 1997 to Dec 2016. Then allelic data from case-control and TDT studies were analyzed by the Catmap package in the R software. A total of 5 studies were eligible for the meta-analysis of rs4680, including 3 case-control, 1 TDT and 1 TDT & case-control studies. Meanwhile, 22 studies of 5-HTTLPR were available, including 16 TDT, 4 case-control and 2 TDT & case-control studies. The current meta-analysis included 814 ASD cases, 741 controls and 311 families related to rs4680; 749 ASD cases, 1,118 controls and 1,861 families relevant to 5-HTTLPR were also evaluated. For rs4680, the pooled OR was 1.18 (95% CI = 0.87-1.59, P = 0.29, Pheterogeneity < 0.00001). There was no significant association of rs4680 with risk of ASD between the two subgroups. For 5-HTTLPR, the pooled OR was 1.05 (95% CI = 0.92-1.20, P = 0.4652, Pheterogeneity < 0.00001). Meanwhile, we found no significant risk in individual case-control or TDT studies. The above findings indicated that neither COMT rs4680 nor 5-HTT 5-HTTLPR polymorphism significantly affects ASD risk. Autism Res 2017. (c) 2017 International Society for Autism Research, Wiley Periodicals, Inc. Lien vers le texte intégral (Open Access ou abonnement)
14. Zhang J, Gambin T, Yuan B, Szafranski P, Rosenfeld JA, Balwi MA, Alswaid A, Al-Gazali L, Shamsi AMA, Komara M, Ali BR, Roeder E, McAuley L, Roy DS, Manchester DK, Magoulas P, King LE, Hannig V, Bonneau D, Denomme-Pichon AS, Charif M, Besnard T, Bezieau S, Cogne B, Andrieux J, Zhu W, He W, Vetrini F, Ward PA, Cheung SW, Bi W, Eng CM, Lupski JR, Yang Y, Patel A, Lalani SR, Xia F, Stankiewicz P. {{Erratum to: Haploinsufficiency of the E3 ubiquitin-protein ligase gene TRIP12 causes intellectual disability with or without autism spectrum disorders, speech delay, and dysmorphic features}}. {Hum Genet}. 2017.
