1. Araba B, Marraffa C. {{Short-term aripiprazole therapy for autism spectrum disorder}}. {Journal of paediatrics and child health}. 2018; 54(12): 1389-91.
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2. Barnette DJ, Hanks C, Li W, Porter K. {{Patient-level medication regimen complexity in an adolescent and adult population with autism spectrum disorders}}. {Pharmacotherapy}. 2018.
BACKGROUND: Adults with autism spectrum disorder (ASD) frequently experience polypharmacy. However, there is limited understanding of how to quantify medication complexity in this vulnerable population. OBJECTIVE: This study examined medication administration difficulty using the Medication Regimen Complexity Index (MRCI) tool in adolescents and adults with ASD. The outcomes compared the mean total MRCI score with the medication count, described MRCI contributions for over-the-counter medication (OTC), and compared MRCI scores by patient characteristics. METHODS: This was a retrospective chart review of patients aged 7-45 years (mean=20.1) enrolled in a primary care ASD transitions program. Each patient’s listed medications were counted and then scored using the validated MRCI tool. RESULTS: For the 142 patients studied, mean total MRCI was 14.6 +/- 14.6 (range 0-89) and mean medication count was 6.3 +/- 5.4 (range 0-38). For patients on 0-4 medications (66 of 142; 46.5%) the mean MRCI was 5.5 +/- 4.2, 5-9 medications (50 of 142; 35.2%) the mean MRCI was 15.2 +/- 6.8, and 10-38 medications (26 of 142; 18.3%) the mean MRCI was 36.5 +/-18.9 (p < 0.001). Sixty percent (85 of 142) reported OTC use, which contributed 26.6% to the mean total MRCI. Reported benzodiazepine (mean MRCI 25.8 +/- 17.2), antiepileptic (mean MRCI 23.7 +/- 16.9), antipsychotic (mean MRCI 19.7 +/- 15.9), or antidepressant (mean MRCI 17.0 + /- 14.8) use received higher MRCI scores compared to non-use (p < 0.001 for all except antidepressants [p = 0.004]). Total MRCI did not differ significantly by age group, sex, or attention deficit/ hyperactivity disorder (ADHD) medication use (stimulant or non-stimulant). CONCLUSIONS: Medication regimen complexity in adolescents and adults with ASD, was increased significantly for individuals taking 5 or more medications. Central nervous system agent use, other than ADHD therapy, identified patients with higher regimen complexity. The related clinical effects of these findings warrant further investigation. This article is protected by copyright. All rights reserved. Lien vers le texte intégral (Open Access ou abonnement)
3. Barrett SL, Uljarevic M, Jones CRG, Leekam SR. {{Assessing subtypes of restricted and repetitive behaviour using the Adult Repetitive Behaviour Questionnaire-2 in autistic adults}}. {Molecular autism}. 2018; 9: 58.
Background: The majority of previous research into restricted and repetitive behaviours (RRBs) has focussed on children, partly due to a lack of suitable measures for RRBs in adults. This study aimed to explore the psychometric properties of the Adult Repetitive Behaviour Questionnaire-2 (RBQ-2A) in a large sample of autistic adults using a self-report questionnaire method. Methods: The RBQ-2A and Autism-Spectrum Quotient (AQ) were administered online. Data from 275 autistic adults aged 18-66 (M = 36.56, SD = 12.24; 100 men and 171 women) were analysed using polychoric principal components analysis (PCA). Reliability and validity were assessed using Cronbach’s alpha and correlation analyses. Results: PCA resulted in two components of the RBQ-2A, interpretable as repetitive sensory and motor behaviours (RSMB) and insistence on sameness (IS). Both components showed acceptable internal consistency (alpha = .70 and .81 respectively) and were significantly moderately correlated with scores on the AQ (r s = .25 and .42). Participants’ scores on IS were higher than their scores on RSMB. RSMB, but not IS, was negatively associated with age, particularly in older adults (>/= 50 years). There were no gender differences. Conclusions: The RBQ-2A is a reliable and valid self-report measure of RRBs in the present sample of autistic adults. As one of the few measures of RRBs aimed at adults, it is suitable for adults with the ability to read and complete a self-report questionnaire. Results build on previous work with children using the Repetitive Behaviour Questionnaire-2 (RBQ-2).
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4. Brendt PD, Mathews AD, Greenberg RD, Arnold MP. {{Autistic Man Falling Through The Cracks. Advanced patient transport and the « pop-up » recovery ward}}. {Prehospital emergency care : official journal of the National Association of EMS Physicians and the National Association of State EMS Directors}. 2018: 1-4.
The Royal Flying Doctor Service was tasked to relocate a 19 year-old autistic patient with severe social anxiety, agoraphobia and morbid obesity from one residential location to another. The retrieval team was confronted with two main challenges: 1. Continuous risk elevation in an elective patient transportation as distinct from other urgent prehospital transfers of mental health patients. 2. Pre-hospital ketamine/propofol sedation of an aggressive/combative patient with recovery from sedation in a private property. The transfer accomplished the successful relocation of the patient.
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5. Brumback AC. {{The 2017 Dodge Young Investigator Award Lecture: Toward Novel Circuit Therapies for Autism}}. {Pediatric neurology}. 2018; 87: 11-9.
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6. Clarke CS. {{Telepsychiatry in Asperger’s syndrome}}. {Irish journal of psychological medicine}. 2018; 35(4): 325-8.
BACKGROUND: Internet technology offers psychiatrists new opportunities for remote interaction with patients. It also raises issues regarding therapeutic effectiveness, safety, technical problems and possibilities for overcoming them, and matters related to specific mental health problems such as autism. The case presented concerns an adolescent male with severe social impairment and isolation as manifestations of Aspergers syndrome. METHODS: The patient was accepted contact with psychiatric services through telepsychiatry, which enabled initial assessment and the development of a therapeutic relationship. RESULTS: In due course the patient was able to attend the clinic in person. He became somewhat reconciled to his family. With appropriate adaptations he was able to resume his education and career. CONCLUSIONS: Telepsychiatry shows promise in engaging with patients with autism spectrum disorders. As experience accrues, there is some evidence that it is safe and effective. Adaptations to traditional clinical psychotherapy may be required.
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7. Danesi C, Achuta VS, Corcoran P, Peteri UK, Turconi G, Matsui N, Albayrak I, Rezov V, Isaksson A, Castren ML. {{Increased Calcium Influx through L-type Calcium Channels in Human and Mouse Neural Progenitors Lacking Fragile X Mental Retardation Protein}}. {Stem cell reports}. 2018.
The absence of FMR1 protein (FMRP) causes fragile X syndrome (FXS) and disturbed FMRP function is implicated in several forms of human psychopathology. We show that intracellular calcium responses to depolarization are augmented in neural progenitors derived from human induced pluripotent stem cells and mouse brain with FXS. Increased calcium influx via nifedipine-sensitive voltage-gated calcium (Cav) channels contributes to the exaggerated responses to depolarization and type 1 metabotropic glutamate receptor activation. The ratio of L-type/T-type Cav channel expression is increased in FXS progenitors and correlates with enhanced progenitor differentiation to glutamate-responsive cells. Genetic reduction of brain-derived neurotrophic factor in FXS mouse progenitors diminishes the expression of Cav channels and activity-dependent responses, which are associated with increased phosphorylation of the phospholipase C-gamma1 site within TrkB receptors and changes of differentiating progenitor subpopulations. Our results show developmental effects of increased calcium influx via L-type Cav channels in FXS neural progenitors.
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8. Day M. {{Three Belgian doctors are investigated over euthanasia of woman with Asperger’s}}. {BMJ (Clinical research ed)}. 2018; 363: k5106.
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9. Glynn K, Lyne J. {{Hidden addictions, improving eating disorder services and overcoming challenges in autism spectrum disorders}}. {Irish journal of psychological medicine}. 2018; 35(4): 267.
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10. Guo H, Duyzend MH, Coe BP, Baker C, Hoekzema K, Gerdts J, Turner TN, Zody MC, Beighley JS, Murali SC, Nelson BJ, Bamshad MJ, Nickerson DA, Bernier RA, Eichler EE. {{Genome sequencing identifies multiple deleterious variants in autism patients with more severe phenotypes}}. {Genetics in medicine : official journal of the American College of Medical Genetics}. 2018.
PURPOSE: To maximize the discovery of potentially pathogenic variants to better understand the diagnostic utility of genome sequencing (GS) and to assess how the presence of multiple risk events might affect the phenotypic severity in autism spectrum disorders (ASD). METHODS: GS was applied to 180 simplex and multiplex ASD families (578 individuals, 213 patients) with exome sequencing and array comparative genomic hybridization further applied to a subset for validation and cross-platform comparisons. RESULTS: We found that 40.8% of patients carried variants with evidence of disease risk, including a de novo frameshift variant in NR4A2 and two de novo missense variants in SYNCRIP, while 21.1% carried clinically relevant pathogenic or likely pathogenic variants. Patients with more than one risk variant (9.9%) were more severely affected with respect to cognitive ability compared with patients with a single or no-risk variant. We observed no instance among the 27 multiplex families where a pathogenic or likely pathogenic variant was transmitted to all affected members in the family. CONCLUSION: The study demonstrates the diagnostic utility of GS, especially for multiple risk variants that contribute to the phenotypic severity, shows the genetic heterogeneity in multiplex families, and provides evidence for new genes for follow up.
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11. Hocking DR, Farhat H, Gavrila R, Caeyenberghs K, Shields N. {{Do active video games improve motor function in people with developmental disabilities? A meta-analysis of randomized-controlled trials}}. {Archives of physical medicine and rehabilitation}. 2018.
OBJECTIVE: To conduct a meta-analysis to examine the effectiveness of active video games (AVGs) interventions on motor function in people with developmental disabilities. DATA SOURCES: An electronic search of seven databases (Pubmed, EbscoHost, Informit, Scopus, ScienceDirect, Proquest, and PsychInfo) was conducted for randomized controlled trials (RCTs) evaluating active video games to improve motor function in people with developmental disability, published through to May 2018. STUDY SELECTION: Only articles in a peer-reviewed journal in English were selected, and screened by two independent reviewers for RCTs that compared AVGs to conventional therapy. Twelve RCTs involving 370 people with developmental disabilities met the inclusion criteria for quantitative analysis. DATA EXTRACTION: Two independent reviewers assessed risk of bias and study quality using the Egger’s R, GRADE and TiDier checklists. DATA SYNTHESIS: Three meta-analyses revealed a large effect size for AVGs to improve gross motor skills (Hedge’s g = 0.833, CI = 0.247 to 1.420), small to medium effects for balance (g = 0.458, CI = 0.023, 0.948), and a small, non-significant effect for functional mobility (g = 0.425, CI = -0.03, 0.881). Training frequency (i.e. number of sessions per week) moderated the effect of AVGs on motor function in people with developmental disabilities. CONCLUSION: We conclude that AVGs show task-specific effectiveness for gross motor skills but the effects are moderated by training intensity. However, due to the low number of trials, diverse diagnoses, variable dosage and multiple outcome measures of the included trials, these results need to be interpreted with caution.
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12. James BJ, Gales MA, Gales BJ. {{Bumetanide for Autism Spectrum Disorder in Children: A Review of Randomized Controlled Trials}}. {The Annals of pharmacotherapy}. 2018: 1060028018817304.
OBJECTIVE: To evaluate clinical trials using bumetanide in autism spectrum disorder (ASD) treatment. DATA SOURCES: PubMed and Ovid MEDLINE (1946 to October 2018) were searched using terms bumetanide and autism. Bibliographies were reviewed for other relevant trials. STUDY SELECTION AND DATA EXTRACTION: English language, randomized, controlled, clinical trials in humans were evaluated. Three trials met all inclusion criteria. DATA SYNTHESIS: Oral bumetanide was studied in 208 patients, 2 to 18 years old, with ASD. Trials evaluated bumetanide’s impact on core behavioral features using several different autism assessment scales. All trials used the Childhood Autism Rating Scale to assess improvement at 90 days, with one trial finding statistical significance. The Clinical Global Impressions Scale identified statistically significant improvements in 2 of the 3 trials. The Autism Behavioral Checklist and Social Responsiveness Scales identified statistical benefit in the 2 trials utilizing those outcomes. Behaviors most improved by bumetanide included social communication, interactions, and restricted interest. No dose-effect correlation was identified in the dose-ranging trial. Adverse effects, including hypokalemia and polyuria, occurred more often with higher doses and resulted in withdrawal rates of 17% to 43%. Bumetanide 0.5 mg twice daily was the most studied and best tolerated dose. Limitations included unclear clinical success definitions and evaluation methodology variability. Relevance to Patient Care and Clinical Practice: No effective treatment options for core ASD symptoms have been approved. This review presents preliminary safety and efficacy data for bumetanide in ASD. CONCLUSIONS: Low-dose oral bumetanide may be useful in patients with moderate to severe ASD when behavioral therapies are not available.
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13. Kang J, Chen H, Li X, Li X. {{EEG entropy analysis in autistic children}}. {Journal of clinical neuroscience : official journal of the Neurosurgical Society of Australasia}. 2018.
Autism spectrum disorder (ASD) is a complex and heterogeneous neurodevelopmental disorder, which is characterized by impairments of social interaction and communication, and by stereotyped and repetitive behaviors. Extensive evidences demonstrated that the core neurobiological mechanism of autism spectrum disorder is aberrant neural connectivity, so the entropy of EEG can be applied to quantify this aberrant neural connectivity. In this study, we investigated four entropy methods to analyse the resting-state EEG of the autistic children and the typical development (TD) children. Through 43 children diagnosed with autism aged from 4 to 8years old as compared to 43 normal children matched for age and gender, we found region-specifically and entropy-specifically which were more sensitive with the increase of age. In detail, for 4years old group, there is significant difference in central by Renyi permutation entropy method; the significant differences are in frontal and central by sample entropy for 5years old group; the significant difference is in frontal by fuzzy entropy for 6years old group; the significant difference is in central by Renyi wavelet entropy for 7years old group and the difference is in occipital by Renyi wavelet entropy for 8years old group. The results might guide us to make an accurate distinction between ASD and TD children.
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14. Lecavalier L, McCracken CE, Aman MG, McDougle CJ, McCracken JT, Tierney E, Smith T, Johnson C, King B, Handen B, Swiezy NB, Eugene Arnold L, Bearss K, Vitiello B, Scahill L. {{An exploration of concomitant psychiatric disorders in children with autism spectrum disorder}}. {Comprehensive psychiatry}. 2018; 88: 57-64.
OBJECTIVE: We explored patterns of concomitant psychiatric disorders in a large sample of treatment-seeking children and adolescents with autism spectrum disorder (ASD). METHODS: Participants were 658 children with ASD (age 3-17years; mean=7.2years) in one of six federally-funded multisite randomized clinical trials (RCT) between 1999 and 2014. All children were referred for hyperactivity or irritability. Study designs varied, but all used the Child and Adolescent Symptom Inventory or Early Childhood Inventory to assess Attention Deficit Hyperactivity Disorder (ADHD), Oppositional-Defiant Disorder (ODD), Conduct Disorder (CD), Anxiety Disorders, and Mood Disorders. In addition, several measures in common were used to assess demographic and clinical characteristics. RESULTS: Of the 658 children, 73% were Caucasian and 59% had an IQ >70. The rates of concomitant disorders across studies were: ADHD 81%, ODD 46%, CD 12%, any anxiety disorder 42%, and any mood disorder 8%. Two or more psychiatric disorders were identified in 66% of the sample. Of those who met criteria for ADHD, 50% also met criteria for ODD and 46% for any anxiety disorder. Associations between types of concomitant disorders and a number of demographic and clinical characteristics are presented. CONCLUSION: In this well-characterized sample of treatment-seeking children with ASD, rates of concomitant psychiatric disorders were high and the presence of two or more co-occurring disorders was common. Findings highlight the importance of improving diagnostic practice in ASD and understanding possible mechanisms of comorbidity.
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15. Lee SC, Quinn TP, Lai J, Kong SW, Hertz-Picciotto I, Glatt SJ, Crowley TM, Venkatesh S, Nguyen T. {{Solving for X: Evidence for sex-specific autism biomarkers across multiple transcriptomic studies}}. {American journal of medical genetics Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics}. 2018.
Autism spectrum disorder (ASD) is a markedly heterogeneous condition with a varied phenotypic presentation. Its high concordance among siblings, as well as its clear association with specific genetic disorders, both point to a strong genetic etiology. However, the molecular basis of ASD is still poorly understood, although recent studies point to the existence of sex-specific ASD pathophysiologies and biomarkers. Despite this, little is known about how exactly sex influences the gene expression signatures of ASD probands. In an effort to identify sex-dependent biomarkers and characterize their function, we present an analysis of a single paired-end postmortem brain RNA-Seq data set and a meta-analysis of six blood-based microarray data sets. Here, we identify several genes with sex-dependent dysregulation, and many more with sex-independent dysregulation. Moreover, through pathway analysis, we find that these sex-independent biomarkers have substantially different biological roles than the sex-dependent biomarkers, and that some of these pathways are ubiquitously dysregulated in both postmortem brain and blood. We conclude by synthesizing the discovered biomarker profiles with the extant literature, by highlighting the advantage of studying sex-specific dysregulation directly, and by making a call for new transcriptomic data that comprise large female cohorts.
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16. Li D, Larsen L, Yang Y, Wang L, Zhai Y, Sullivan WC. {{Exposure to nature for children with autism spectrum disorder: Benefits, caveats, and barriers}}. {Health & place}. 2018.
Autism spectrum disorder (ASD) is the fastest growing developmental disorder in countries across the world. Although recent studies have demonstrated the health benefits of nature for typically developing children and children with attention deficit hyperactivity disorder, it is unclear whether these benefits extend to children with ASD. In this study, we investigated whether benefits associated with exposure to nature could be observed by parents of children diagnosed with ASD. We conducted semi-structured interviews with 22 parents and caregivers of children on the spectrum from two cities in China. Results showed that exposure to nature provided motor-sensory, emotional and social benefits to children with ASD, although some of the identified benefits also come with concerns. Participants identified a wide range of barriers that make exposing their children to nature difficult. Among them, inappropriate behaviors, safety concerns, phobias and issues with the public realm emerged as critical hurdles. These findings suggest that practitioners should consider nature exposure as an intervention strategy, and planners and designers should create places that better accommodate the needs of children with ASD.
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17. Lipsker CW, Bolte S, Hirvikoski T, Lekander M, Holmstrom L, Wicksell RK. {{Prevalence of autism traits and attention-deficit hyperactivity disorder symptoms in a clinical sample of children and adolescents with chronic pain}}. {Journal of pain research}. 2018; 11: 2827-36.
Purpose: Recent research has suggested that autism spectrum disorder (ASD) and attention-deficit hyperactivity disorder (ADHD) may be comorbid to pediatric chronic pain, but the empirical support is yet scarce. Therefore, the current study aimed to investigate the occurrence of traits and symptoms consistent with clinically significant ASD and ADHD in a group of children and adolescents with chronic debilitating pain and examine potential differences in pain and demographic variables between children with and without clinically significant traits and symptoms of ASD and ADHD. Patients and methods: This cross-sectional study included 146 parent-child dyads (102 girls, 111 mothers, children 8-17 years) consecutively referred to a tertiary pain clinic. Parents completed the Social Responsiveness Scale to assess autistic traits, and Conners-3 to measure symptoms of ADHD in their children. Children completed the Lubeck Pain Questionnaire to evaluate experienced pain. Results: Among children, 20 (13.7%) received scores consistent with clinically significant ASD and 29 (19.9%) received scores consistent with clinically significant ADHD, with a combined prevalence of clinically significant ASD/ADHD traits and symptoms of 26% of the total sample. Only 4.8% of children were previously diagnosed with either disorder. Among children with clinically significant ASD traits, girls were more prevalent, parents reported lower health, and the pain was more likely triggered by being in school. Among children with clinically significant ADHD symptoms, there were no gender differences and pain was more likely triggered by the family situation and new situations. No differences regarding pain intensity, duration, or frequency were found between children with and without clinically significant ASD traits or ADHD symptoms. Conclusion: Children with debilitating chronic pain, particularly girls, may present with an elevated risk of having a comorbid, possibly high-functioning, neurodevelopmental disorder. Results suggest that clinical assessment of pediatric chronic pain should include screening for neurodevelopmental disorders.
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18. Maneeton N, Maneeton B, Putthisri S, Suttajit S, Likhitsathian S, Srisurapanont M. {{Aripiprazole in acute treatment of children and adolescents with autism spectrum disorder: a systematic review and meta-analysis}}. {Neuropsychiatric disease and treatment}. 2018; 14: 3063-72.
Background: Recent randomized controlled trials indicated that aripiprazole was the effective treatment for children and adolescents with autism spectrum disorder (ASD). Objective: This study systematically reviewed the efficacy, acceptability and tolerability of aripiprazole in treatment of ASD children and adolescents. Data sources: Electronic search of databases including, Scopus, PubMed, CINAHL and Cochrane Controlled Trials Register was performed in July 2017. Methods: The full-text versions of included trials were meticulously evaluated and extracted. The main efficacious outcomes consisted of pooled mean change scores of the standardized rating scales for ASD and the pooled response rate. Results: A total of 408 randomized patients from eligible trials were included for synthesizing in this meta-analysis. The pooled mean change scores in aripiprazole-treated group for the Aberrant Behavior Checklist (ABC)-Irritability, ABC-Hyperactivity/noncompliance, ABC-Inappropriate speech and ABC-Stereotypic behavior were significantly greater than those of the placebo-treated group. Unfortunately, the significant difference between two groups was not found for ABC-Lethargy/social withdrawal. The overall pooled response rate of the aripiprazole-treated group was significantly higher than that of the placebo-treated group. The pooled overall discontinuation rate in aripiprazole-treated group was significantly better than that of placebo-treated group. The pooled discontinuation rates due to adverse events in aripiprazole-treated group significantly differed from the placebo-treated group (RR [95% CI] of 1.43 [0.65, 3.18], I (2)=0%). Limitation: A small number of studies were gathered in this review. Conclusion: Aripiprazole has efficacy in the treatment of behavioral disturbances, including irritability, hyperactivity/noncompliance, inappropriate speech and stereotypic behavior found in ASD children and adolescents; however, it could not improve the lethargy/social withdrawal in such patients. The present evidence also indicates that it is safe, acceptable and tolerable in such treatment. As a small sample size, further well-defined and large sample size studies should be conducted to warrant those findings.
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19. Miller M, Iosif AM, Young GS, Bell LJ, Schwichtenberg AJ, Hutman T, Ozonoff S. {{The dysregulation profile in preschoolers with and without a family history of autism spectrum disorder}}. {Journal of child psychology and psychiatry, and allied disciplines}. 2018.
BACKGROUND: The ‘dysregulation profile’ (DP) is a measure of emotional and behavioral dysregulation that may cut across diagnostic boundaries. Siblings of children with autism spectrum disorder (ASD) who do not develop ASD themselves are at risk for atypical outcomes including behavioral challenges and therefore may be a useful population in which to investigate the structure of the DP in preschoolers. METHODS: We sought to examine the factor structure and predictors of the DP in a sample enriched for a wide range of phenotypic variation-36-month-olds with and without family histories of ASD-and to determine whether children with genetic liability for ASD are at risk for a phenotype characterized by elevated dysregulation. Data were collected from 415 children with (n = 253) and without (n = 162) an older sibling with ASD, all without ASD themselves, at 18, 24, and 36 months of age. RESULTS: Our findings replicate prior reports, conducted in predominantly clinically referred and older samples, supporting the superiority of a bifactor model of the DP in the preschool period compared to the second-order and one-factor models. Examiner ratings were longitudinally and concurrently associated with the DP at 36 months of age. Family history of ASD was associated with higher dysregulation in the Anxious/Depressed dimension. CONCLUSIONS: These findings support the relevance of examining the structure of psychopathology in preschoolers and suggest that examiner observations as early as 18 months of age, particularly of overactivity, may help identify risk for later DP-related concerns. Non-ASD preschoolers with family histories of ASD may be at risk for a phenotype characterized by elevated dysregulation particularly in the Anxious/Depressed dimension by age 3.
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20. Myers SM, Voigt RG, Colligan RC, Weaver AL, Storlie CB, Stoeckel RE, Port JD, Katusic SK. {{Autism Spectrum Disorder: Incidence and Time Trends Over Two Decades in a Population-Based Birth Cohort}}. {Journal of autism and developmental disorders}. 2018.
We retrospectively identified autism spectrum disorder (ASD) incident cases among 31,220 individuals in a population-based birth cohort based on signs and symptoms uniformly abstracted from medical and educational records. Inclusive and narrow research definitions of ASD (ASD-RI and ASD-RN, respectively) were explored, along with clinical diagnoses of ASD (ASD-C) obtained from the records. The incidence of ASD-RI, ASD-RN, and ASD-C increased significantly from 1985 to 1998, then ASD-RI and ASD-RN plateaued while the rate of ASD-C continued to increase during 1998-2004. The rising incidence of research-defined ASD may reflect improved recognition and documentation of ASD signs and symptoms. Although the frequency of threshold ASD symptoms stabilized, the rate of ASD-C continued to increase, narrowing the gap between clinical ascertainment and symptom documentation.
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21. Ning J, Xu L, Shen CQ, Zhang YY, Zhao Q. {{Increased serum levels of macrophage migration inhibitory factor in autism spectrum disorders}}. {Neurotoxicology}. 2018; 71: 1-5.
OBJECTIVE: Macrophage migration inhibitory factor (MIF) has been suggested as a pivotal regulator of innate immunity and inflammatory. The aim of this study was to measure serum circulating levels of MIF in relation to the degree of the severity of autism spectrum disorders (ASD). METHODS: One hundred and two Chinese children with ASD and same their age-sex matched typical development children were included. Concentrations of MIF were tested by Quantikine Human MIF Immunoassay. Serum levels of homocysteine (HCY), C-reactive protein (CRP) and serum Interleukin 6 (IL-6) were also tested. The influence of serum levels of MIF on ASD risk and ASD severity were performed by binary logistic regression analysis. RESULTS: The serum levels of MIF in the children with ASD (24.7 +/- 08.9 ng/ml) were significantly higher than those of control subjects (18.3 +/- 5.5 ng/ml) (t = 6.134, P < 0.001). Levels of MIF increased with increasing severity of ASD as defined by the CARS score (P < 0.001). In multivariate model, MIF was associated with an increased risk of ASD (OR 1.11, 95% CI: 1.05-1.17; P < 0.001). MIF improved the combined model (HCY/CRP/IL-6) to predict ASD (P < 0.001). At admission, 68 children (66.7%) had a severe autism. In these children, the mean serum level of MIF was higher than in those children with mild to moderate autism (28.1 +/- 8.5 ng/ml VS. 17.9 +/- 4.7 ng/ml; t = 6.482, P < 0.001). In multivariate model, MIF was still associated with an increased risk of severe ASD (OR: 1.15, 95% CI: 1.04-1.19; P < 0.001). MIF improved the combined model (HCY/CRP/IL-6) to predict severe ASD (P < 0.001). CONCLUSIONS: These results identify high serum MIF levels are associated with severity of ASD. Further study is warranted on the precise involvement of MIF in ASD, and the mechanism by which MIF contributes to ASD pathogenesis. Lien vers le texte intégral (Open Access ou abonnement)
22. O’Neill M, Shear T. {{EEG for Diagnosis of Autism Spectrum Disorder}}. {Pediatric neurology briefs}. 2018; 32: 13.
Investigators from Boston University and the University of San Francisco studied whether EEG could be reliably used as an early biomarker for diagnosis of autism spectrum disorder (ASD).
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23. Roberts CA, Smith KC, Sherman AK. {{Comparison of Online and Face-to-Face Parent Education for Children with Autism and Sleep Problems}}. {Journal of autism and developmental disorders}. 2018.
Many children with autism spectrum disorder (ASD) have sleep disorders. Face-to-face (F2F) sessions have empowered parents to help their child sleep. Our goal was whether online technologies could provide similar improvements in children’s sleep while also improving parents’ quality of life. Identical programs were taught in two sessions to F2F and online parents. Measurements were compared from baseline to 4 and 8 weeks post teaching sessions. Twenty-three participants completed the program. Parent quality of life improved for both groups. Parent fatigue scores were improved and sustained for the online group. The total sleep score improved for both groups, while the online group had sustained decreases in night wakings. Online methods can conveniently help improve sleep for children with ASD.
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24. Sahin B, Karabekiroglu K, Bozkurt A, Usta MB, Aydin M, Cobanoglu C. {{The Relationship of Clinical Symptoms with Social Cognition in Children Diagnosed with Attention Deficit Hyperactivity Disorder, Specific Learning Disorder or Autism Spectrum Disorder}}. {Psychiatry investigation}. 2018: 0.
OBJECTIVE: One of the areas of social cognition is Theory of Mind (ToM) is defined as the capacity to interpret, infer and explain mental states underlying the behavior of others. When social cognition studies on neurodevelopmental disorders are examined, it can be seen that this skill has not been studied sufficiently in children with Specific Learning Disorder (SLD). METHODS: In this study, social cognition skills in children diagnosed with attention deficit hyperactivity disorder (ADHD), SLD or Autism Spectrum Disorder (ASD) evaluated before puberty and compared with controls. To evaluate the ToM skills, the first and secondorder false belief tasks, the Hinting Task, the Faux Pas Test and the Reading the Mind in the Eyes Task were used. RESULTS: We found that children with neurodevelopmental disorders as ADHD, ASD, and SLD had ToM deficits independent of intelligence and language development. There was a significant correlation between social cognition deficits and problems experienced in many areas such as social communication and interaction, attention, behavior, and learning. CONCLUSION: Social cognition is an important area of impairment in SLD and there is a strong relationship between clinical symptoms and impaired functionality.
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25. Sener EF, Taheri S, Sahin MC, Bayramov KK, Marasli MK, Zararsiz G, Mehmetbeyoglu E, Oztop DB, Canpolat M, Canatan H, Ozkul Y. {{Altered Global mRNA Expressions of Pain and Aggression Related Genes in the Blood of Children with Autism Spectrum Disorders}}. {Journal of molecular neuroscience : MN}. 2018.
Autism spectrum disorder (ASD) is characterized by repetitive stereotypic behaviors, restricted interests, social withdrawal, and communication deficits. Aggression and insensitivity to pain are largely unexplained in these cases. We analyzed nine mRNA expressions of the candidate genes related to aggression and insensitivity to pain in the peripheral blood of patients with ASD. Whole blood samples were obtained from 40 autistic patients (33 boys, 7 girls) and 50 age- and sex-matched controls (37 boys and 13 girls) to isolate RNA. Gene expression was assessed by quantitative Real-Time PCR (qRT-PCR) in the Erciyes University Genome and Stem Cell Center (GENKOK). All of the gene expressions except CRHR1 and SLC6A4 were found to be statistically different between the ASD patients and controls. Gene expression also differed according to gender. Alterations in the mRNA expression patterns of the HTR1E, OPRL1, OPRM1, TACR1, PRKG1, SCN9A and DRD4 genes provide further evidence for a relevant effect of the respective candidate genes on the pathophysiology of ASD. Future studies may determine the sensitivity of these candidate markers in larger samples including further neuropsychiatric diagnosis.
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26. Shin HM, Schmidt RJ, Tancredi D, Barkoski J, Ozonoff S, Bennett DH, Hertz-Picciotto I. {{Prenatal exposure to phthalates and autism spectrum disorder in the MARBLES study}}. {Environmental health : a global access science source}. 2018; 17(1): 85.
BACKGROUND: Evidence from experimental and observational studies suggests that prenatal phthalate exposures may be associated with autism spectrum disorder (ASD). We examined whether prenatal phthalate exposures were associated with an increased risk of ASD. METHODS: We quantified 14 metabolites of eight phthalates in 636 multiple maternal urine samples collected during 2nd and 3rd trimesters of pregnancy from 201 mother-child pairs in MARBLES (Markers of Autism Risk in Babies – Learning Early Signs), a high-risk ASD longitudinal cohort. At 3 years old, children were clinically assessed for ASD and classified into three diagnostic categories: ASD (n = 46), non-typical development (Non-TD, n = 55), and typical development (TD, n = 100). We used multinomial logistic regression to evaluate the association of phthalate metabolite concentrations with ASD and Non-TD. RESULTS: Most associations of phthalate biomarkers with both ASD and Non-TD were null, with the exception that monoethyl phthalate (MEP) was significantly associated with an increased risk of Non-TD (per 2.72-fold relative increase in concentration: Relative risk ratio (RRR) = 1.38; 95% confidence interval (CI): 1.01, 1.90). When stratified by prenatal vitamin use during the first month of pregnancy, among mothers who took vitamins, ASD risk was inversely associated with mono-isobutyl phthalate (MiBP, RRR = 0.44; 95% CI: 0.21, 0.88), mono(3-carboxypropyl) phthalate (MCPP, RRR = 0.41; 95% CI: 0.20, 0.83) and mono-carboxyisooctyl phthalate (MCOP, RRR = 0.49; 95% CI: 0.27, 0.88), but among mothers who did not take prenatal vitamins, Non-TD risk was positively associated with MCPP (RRR = 5.09; 95% CI: 2.05, 12.6), MCOP (RRR = 1.86; 95% CI: 1.01, 3.39), and mono-carboxyisononyl phthalate (MCNP, RRR = 3.67; 95% CI: 1.80, 7.48). When stratified by sex, among boys, MEP, monobenzyl phthalate, MCPP, MCNP, and sum of di(2-ethylhexyl) phthalate metabolites (SigmaDEHP) were positively associated with Non-TD risk, but associations with ASD were null. Among girls, associations with both ASD and Non-TD were null. CONCLUSIONS: Our study showed that phthalate exposures in mid- to late pregnancy were not associated with ASD in children from this high-risk ASD cohort. Further studies should be conducted in the general population without high-risk genes to confirm our findings.
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27. Singh D, Davis T. {{Fragile X-associated tremor ataxia syndrome and cognitive impairment}}. {The Australian and New Zealand journal of psychiatry}. 2018: 4867418814942.
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28. Smith ES, Smith DR, Eyring C, Braileanu M, Smith-Connor KS, Ei Tan Y, Fowler AY, Hoffman GE, Johnston MV, Kannan S, Blue ME. {{Altered trajectories of neurodevelopment and behavior in mouse models of Rett Syndrome}}. {Neurobiology of learning and memory}. 2018.
Rett Syndrome (RTT) is a genetic disorder that is caused by mutations in the x-linked gene coding for methyl-CpG-biding-protein 2 (MECP2) and that mainly affects females. Male and female transgenic mouse models of RTT have been studied extensively, and we have learned a great deal regarding RTT neuropathology and how MeCP2 deficiency may be influencing brain function and maturation. In this manuscript we review what is known concerning structural and coinciding functional and behavioral deficits in RTT and in mouse models of MeCP2 deficiency. We also introduce our own corroborating data regarding behavioral phenotype and morphological alterations in volume of the cortex and striatum and the density of neurons, aberrations in experience-dependent plasticity within the barrel cortex and the impact of MeCP2 loss on glial structure. We conclude that regional structural changes in genetic models of RTT show great similarity to the alterations in brain structure of patients with RTT. These region-specific modifications often coincide with phenotype onset and contribute to larger issues of circuit connectivity, progression, and severity. Although the alterations seen in mouse models of RTT appear to be primarily due to cell-autonomous effects, there are also non-cell autonomous mechanisms including those caused by MeCP2-deficient glia that negatively impact healthy neuronal function. Collectively, this body of work has provided a solid foundation on which to continue to build our understanding of the role of MeCP2 on neuronal and glial structure and function, its greater impact on neural development, and potential new therapeutic avenues.
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29. Suzuki K, Takagai S, Tsujii M, Ito H, Nishimura T, Tsuchiya KJ. {{Sensory processing in children with autism spectrum disorder and the mental health of primary caregivers}}. {Brain & development}. 2018.
BACKGROUND: Sensory processing difficulties, which commonly occur in autism spectrum disorder (ASD), are expected to have negative effects on the primary caregiver’s mental health. The aim of this study was to examine the association between sensory processing difficulties in children with ASD and the mental health of primary caregivers. METHODS: A total of 707 primary caregivers (mothers in the present study) and their children with ASD (4-18years of age) participated in this study. Sensory processing difficulties were indexed using the Short Sensory Profile (SSP). The mental health of primary caregivers was indexed using the General Health Questionnaire (GHQ12). RESULTS: Higher scores on Auditory Filtering as measured with the SSP were associated with poorer mental health of primary caregivers, even after an adjustment for ASD symptom severity. Analyses of two age sub-groups, a young (4-10years) and an old age group (11-18years), revealed that higher scores on Tactile Sensitivity and Auditory Filtering were associated with poorer mental health of primary caregivers in younger children, whereas only higher scores on Auditory Filtering were associated with poorer mental health of primary caregivers in older children. CONCLUSIONS: Our findings suggest that practitioners who support primary caregivers of children with ASD need to focus not only on the social and communication-related symptoms of the child but also on their specific sensory processing difficulties.
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30. Taj-Eldin M, Ryan C, O’Flynn B, Galvin P. {{A Review of Wearable Solutions for Physiological and Emotional Monitoring for Use by People with Autism Spectrum Disorder and Their Caregivers}}. {Sensors (Basel, Switzerland)}. 2018; 18(12).
The goal of real-time feedback on physiological changes, stress monitoring and even emotion detection is becoming a technological reality. People in their daily life experience varying emotional states, some of which are negative and which can lead to decreased attention, decreased productivity and ultimately, reduced quality of life. Therefore, having a solution that continuously monitors the physiological signals of the person and assesses his or her emotional well-being could be a very valuable tool. This paper aims to review existing physiological and motional monitoring devices, highlight their features and compare their sensing capabilities. Such technology would be particularly useful for certain populations who experience rapidly changing emotional states such as people with autism spectrum disorder and people with intellectual disabilities. Wearable sensing devices present a potential solution that can support and complement existing behavioral interventions. This paper presents a review of existing and emerging products in the market. It reviews the literature on state-of-the-art prototypes and analyzes their usefulness, clinical validity, and discusses clinical perspectives. A small number of products offer reliable physiological internal state monitoring and may be suitable for people with Autism Spectrum Disorder (ASD). It is likely that more promising solutions will be available in the near future. Therefore, caregivers should be careful in their selection of devices that meet the care-receiver’s personal needs and have strong research support for reliability and validity.
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31. Thiemann-Bourque KS, Brady N, Hoffman L. {{Application of the Communication Complexity Scale in Peer and Adult Assessment Contexts for Preschoolers With Autism Spectrum Disorders}}. {American journal of speech-language pathology}. 2018: 1-14.
Purpose: The purpose of this study was to measure changes in communication of preschoolers with autism using the Communication Complexity Scale (CCS; Brady et al., 2012) and to examine the utility of the CCS in measuring pretreatment and posttreatment changes within peer and adult assessment contexts. Method: The CCS was used to code preassessment and postassessment for 23 children with autism randomly assigned to a treatment that incorporated a peer-mediated approach and a speech-generating device and 22 assigned to a business-as-usual condition with untrained peers. Children were assessed in 2 structured 30-min contexts-1 with an adult examiner and 1 with a peer partner coached by an adult. Results: Children in both groups showed significant changes in communication complexity CCS scores from pretreatment to posttreatment in the adult and peer contexts. At both occasions, CCS scores were higher with adult partners yet showed greater improvements over time with peer partners. Conclusions: Results showed that the CCS was sensitive to change over time but did not discriminate changes in communication complexity associated with maturation versus treatment. It did show some differences based on interactions with peer versus adult partners. Outcomes provide preliminary support for using this scale to measure communication changes in different contexts. Supplemental Material: https://doi.org/10.23641/asha.7408856.
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32. Wachtel LE. {{Treatment of catatonia in autism spectrum disorders}}. {Acta psychiatrica Scandinavica}. 2018.
OBJECTIVE: To review the treatment courses of 22 autistic patients diagnosed with catatonia over a 12-year period, including treatment with benzodiazepines and electroconvulsive therapy. METHOD: Retrospective review of inpatient and outpatient records of 22 autistic youth presenting to a neurobehavioral service who were treated for catatonia. RESULTS: Six girls and 16 boys ranging from ages 8 to 26 years old presenting for neurobehavioral assessment were found to meet criteria for catatonia according to the DSM5 and were treated for such. All but one patient was initially unsuccessfully treated with benzodiazepines in dosages ranging from 1 to 27 mg daily, and all patients underwent electroconvulsive therapy. Mean age of ECT start was 15.6 years old, and the total number of ECT received ranged from 16 to 688, with 13 patients still receiving maintenance ECT at the end of the study period. ECT conferred prominent patient benefit in terms of catatonic symptom reduction, including alleviation of incapacitating, treatment-resistant self-injury. CONCLUSION: Myriad symptoms of catatonia were seen in this sample of 22 autistic youth. Implementation of anti-catatonic paradigms, particularly electroconvulsive therapy, conferred vast patient benefit.
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33. Xavier J, Guedjou H, Anzalone SM, Boucenna S, Guigon E, Chetouani M, Cohen D. {{Toward a motor signature in autism: Studies from human-machine interaction}}. {L’Encephale}. 2018.
BACKGROUND: Autism spectrum disorder (ASD) is a heterogeneous group of neurodevelopmental disorders which core symptoms are impairments in socio-communication and repetitive symptoms and stereotypies. Although not cardinal symptoms per se, motor impairments are fundamental aspects of ASD. These impairments are associated with postural and motor control disabilities that we investigated using computational modeling and developmental robotics through human-machine interaction paradigms. METHOD: First, in a set of studies involving a human-robot posture imitation, we explored the impact of 3 different groups of partners (including a group of children with ASD) on robot learning by imitation. Second, using an ecological task, i.e. a real-time motor imitation with a tightrope walker (TW) avatar, we investigated interpersonal synchronization, motor coordination and motor control during the task in children with ASD (n=29), TD children (n=39) and children with developmental coordination disorder (n=17, DCD). RESULTS: From the human-robot experiments, we evidenced that motor signature at both groups’ and individuals’ levels had a key influence on imitation learning, posture recognition and identity recognition. From the more dynamic motor imitation paradigm with a TW avatar, we found that interpersonal synchronization, motor coordination and motor control were more impaired in children with ASD compared to both TD children and children with DCD. Taken together these results confirm the motor peculiarities of children with ASD despite imitation tasks were adequately performed. DISCUSSION: Studies from human-machine interaction support the idea of a behavioral signature in children with ASD. However, several issues need to be addressed. Is this behavioral signature motoric in essence? Is it possible to ascertain that these peculiarities occur during all motor tasks (e.g. posture, voluntary movement)? Could this motor signature be considered as specific to autism, notably in comparison to DCD that also display poor motor coordination skills? We suggest that more work comparing the two conditions should be implemented, including analysis of kinematics and movement smoothness with sufficient measurement quality to allow spectral analysis.
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34. Xu G, Strathearn L, Liu B, O’Brien M, Kopelman TG, Zhu J, Snetselaar LG, Bao W. {{Prevalence and Treatment Patterns of Autism Spectrum Disorder in the United States, 2016}}. {JAMA pediatrics}. 2018.
Importance: Autism spectrum disorder (ASD) is a complex neurodevelopmental disorder. Previous surveys have reported a steady increase in ASD prevalence in US children over the past decades. Several behavioral therapies and medications have been developed to treat the symptoms of ASD; however, little is known about the current status of treatment usage for children diagnosed as having ASD. Objective: To estimate the prevalence and treatment patterns of ASD among US children using nationally representative data. Design, Setting, and Participants: This study used data from the 2016 National Survey of Children’s Health, a nationwide, population-based, cross-sectional survey. We included 43032 children aged 3 to 17 years. Data were collected through questionnaires completed by a parent or guardian. Data were analyzed from February 2018 to March 2018. Main Outcomes and Measures: Outcome variables included ASD diagnosed by a physician or health professional and the use of behavioral treatment or medication treatment among children with ASD. Results: Of the 43032 included participants, 22072 (51.3%) were male, and the mean (SD) age was 10.7 (4.4) years. The weighted prevalence of ever-diagnosed ASD and current ASD were 2.79% (95% CI, 2.46-3.12) and 2.50% (95% CI, 2.21-2.79), respectively. The state-level prevalence of ever-diagnosed ASD varied from 1.54% (95% CI, 0.60-2.48) in Texas to 4.88% (95% CI, 2.72-7.05) in Florida. Nationally, about 70% of children with current ASD (70.5%; 95% CI, 65.1-75.8) were treated; 43.3% (95% CI, 37.4-49.2) received behavioral treatment only, 6.9% (95% CI, 3.7-10.1) received medication treatment only, and 20.3% (95% CI, 16.5-24.1) received both behavioral and medication treatments. The remaining 29.5% (95% CI, 24.2-34.9) of children with current ASD did not receive either behavioral or medication treatment. Conclusions and Relevance: This study showed that the prevalence of ASD in the United States was relatively high, and it varied substantially across US states. Almost 30% of US children with ASD did not receive behavioral or medication treatment, which calls for a critical need to understand and address the barriers for those children to receive appropriate treatments.
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35. Zieminska E, Toczylowska B, Diamandakis D, Hilgier W, Filipkowski RK, Polowy R, Orzel J, Gorka M, Lazarewicz JW. {{Glutamate, Glutamine and GABA Levels in Rat Brain Measured Using MRS, HPLC and NMR Methods in Study of Two Models of Autism}}. {Frontiers in molecular neuroscience}. 2018; 11: 418.
The disorders of the glutamatergic neurotransmission have been associated with pathogenesis of autism. In this study we evaluated the impact of the in vivo and ex vivo test methodology on measurements of levels of neurotransmitter amino acids in hippocampus of rats for valproic acid- (VPA) and thalidomide- (THAL) induced models of autism. The main goal was to compare the changes in concentrations of glutamate (Glu), glutamine (Gln) and GABA between both autistic groups and the control, measured in vivo and ex vivo in homogenates. The rat pups underwent three in vivo tests: ultrasonic vocalization (USV), magnetic resonance spectroscopy (MRS) and unilateral microdialysis of the hippocampus. Analyses of homogenates of rat hippocampus were performed using high-performance liquid chromatography (HPLC) and nuclear magnetic resonance (NMR) spectroscopy. For the statistical analysis, we performed univariate and multivariate tests. USV test, which is considered in rodents as an indicator of pathology similar to autism, showed decreased USV in VPA and THAL groups. In vivo MRS studies demonstrated increases of Glu content in male rat’s hippocampus in VPA and THAL groups, while the microdialysis, which allows examination of the contents in the extracellular space, detected decreases in the basal level of Gln concentrations in VPA and THAL groups. Ex vivo HPLC studies showed that levels of Glu, Gln and GABA significantly increased in male rat’s hippocampus in the VPA and THAL groups, while NMR studies showed increased levels of Gln and GABA in the VPA group. Collectively, these results are consistent with the hypothesis suggesting the role of the glutamatergic disturbances on the pathogenesis of autism. For all methods used, the values of measured changes were in the same direction. The orthogonal partial least square discriminant analysis confirmed that both animal models of autism tested here can be used to trace neurochemical changes in the brain.
