1. {{Committee Opinion No. 668: Menstrual Manipulation for Adolescents With Physical and Developmental Disabilities}}. {Obstet Gynecol};2016 (Aug);128(2):e20-25.
For an adolescent with physical disabilities, intellectual disabilities, or both, and for her caregivers, menstruation can present significant challenges. If, after an evaluation, the adolescent, her family, and the obstetrician-gynecologist have decided that menstrual intervention is warranted, advantages and disadvantages of hormonal methods should be reviewed and individualized to each patient’s specific needs. Complete amenorrhea may be difficult to achieve, and realistic expectations should be addressed with the patient and her caregivers. The goal in menstrual manipulation should be optimal suppression, which means a reduction in the amount and total days of menstrual flow. Menstrual suppression before menarche and endometrial ablation are not recommended as treatments. Optimal gynecologic health care for adolescents with disabilities is comprehensive; maintains confidentiality; is an act of dignity and respect toward the patient; maximizes the patient’s autonomy; avoids harm; and assesses and addresses the patient’s knowledge of puberty, menstruation, sexuality, safety, and consent.
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2. {{Committee Opinion No. 668 Summary: Menstrual Manipulation for Adolescents With Physical and Developmental Disabilities}}. {Obstet Gynecol};2016 (Aug);128(2):418-419.
For an adolescent with physical disabilities, intellectual disabilities, or both, and for her caregivers, menstruation can present significant challenges. If, after an evaluation, the adolescent, her family, and the obstetrician-gynecologist have decided that menstrual intervention is warranted, advantages and disadvantages of hormonal methods should be reviewed and individualized to each patient’s specific needs. Complete amenorrhea may be difficult to achieve, and realistic expectations should be addressed with the patient and her caregivers. The goal in menstrual manipulation should be optimal suppression, which means a reduction in the amount and total days of menstrual flow. Menstrual suppression before menarche and endometrial ablation are not recommended as treatments. Optimal gynecologic health care for adolescents with disabilities is comprehensive; maintains confidentiality; is an act of dignity and respect toward the patient; maximizes the patient’s autonomy; avoids harm; and assesses and addresses the patient’s knowledge of puberty, menstruation, sexuality, safety, and consent.
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3. Anderson S, Meints K. {{Brief Report: The Effects of Equine-Assisted Activities on the Social Functioning in Children and Adolescents with Autism Spectrum Disorder}}. {J Autism Dev Disord};2016 (Jul 25)
Equine-assisted activities and therapies are increasing in popularity for treatment of ASD symptoms. This research evaluated effects of a 5-week programme of therapeutic riding on social functioning of children/adolescents (N = 15) with ASD. The effectiveness of the programme was evaluated using the autism spectrum quotient, the Vineland Adaptive Behaviour Scale and the empathising and systemising quotient. Results established that the TR intervention increased empathising and reduced maladaptive behaviours. The findings also indicated that specific adaptive behaviours like socialization and communication were not affected by the intervention. Thus, a complex picture of the effects of this intervention emerges: while TR does not change all of the child’s behaviour, it can improve specific aspects of social functioning and also reduce maladaptive ASD traits.
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4. Barbaro J, Dissanayake C. {{Diagnostic stability of autism spectrum disorder in toddlers prospectively identified in a community-based setting: Behavioural characteristics and predictors of change over time}}. {Autism};2016 (Jul 28)
Autism spectrum disorder diagnoses in toddlers have been established as accurate and stable across time in high-risk siblings and clinic-referred samples. Few studies have investigated diagnostic stability in children prospective identified in community-based settings. Furthermore, there is a dearth of evidence on the individual behaviours that predict diagnostic change over time. The stability and change of autism spectrum disorder diagnoses were investigated from 24 to 48 months in 77 children drawn from the Social Attention and Communication Study. Diagnostic stability was high, with 88.3% overall stability and 85.5% autism spectrum disorder stability. The behavioural markers at 24 months that contributed to diagnostic shift off the autism spectrum by 48 months included better eye contact, more directed vocalisations, the integration of gaze and directed vocalisations/gestures and higher non-verbal developmental quotient. These four variables correctly predicted 88.7% of children into the autism spectrum disorder-stable and autism spectrum disorder-crossover groups overall, with excellent prediction for the stable group (96.2%) and modest prediction for the crossover group (44.4%). Furthermore, non-verbal developmental quotient at 24 months accounted for the significant improvement across time in ‘Social Affect’ scores on the Autism Diagnostic Observation Schedule for both groups and was the only unique predictor of diagnostic crossover. These findings contribute to the body of evidence on the feasibility of diagnoses at earlier ages to facilitate children’s access to interventions to promote positive developmental outcomes.
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5. Bargiela S, Steward R, Mandy W. {{The Experiences of Late-diagnosed Women with Autism Spectrum Conditions: An Investigation of the Female Autism Phenotype}}. {J Autism Dev Disord};2016 (Jul 25)
We used Framework Analysis to investigate the female autism phenotype and its impact upon the under-recognition of autism spectrum conditions (ASC) in girls and women. Fourteen women with ASC (aged 22-30 years) diagnosed in late adolescence or adulthood gave in-depth accounts of: ‘pretending to be normal’; of how their gender led various professionals to miss their ASC; and of conflicts between ASC and a traditional feminine identity. Experiences of sexual abuse were widespread in this sample, partially reflecting specific vulnerabilities from being a female with undiagnosed ASC. Training would improve teachers’ and clinicians’ recognition of ASC in females, so that timely identification can mitigate risks and promote wellbeing of girls and women on the autism spectrum.
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6. Berzhanskaya J, Phillips MA, Shen J, Colonnese MT. {{Sensory hypo-excitability in a rat model of fetal development in Fragile X Syndrome}}. {Sci Rep};2016;6:30769.
Fragile X syndrome (FXS) is characterized by sensory hyper-sensitivity, and animal models suggest that neuronal hyper-excitability contributes to this phenotype. To understand how sensory dysfunction develops in FXS, we used the rat model (FMR-KO) to quantify the maturation of cortical visual responses from the onset of responsiveness prior to eye-opening, through age equivalents of human juveniles. Rather than hyper-excitability, visual responses before eye-opening had reduced spike rates and an absence of early gamma oscillations, a marker for normal thalamic function at this age. Despite early hypo-excitability, the developmental trajectory of visual responses in FMR-KO rats was normal, and showed the expected loss of visually evoked bursting at the same age as wild-type, two days before eye-opening. At later ages, during the third and fourth post-natal weeks, signs of mild hyper-excitability emerged. These included an increase in the visually-evoked firing of regular spiking, presumptive excitatory, neurons, and a reduced firing of fast-spiking, presumptive inhibitory, neurons. Our results show that early network changes in the FMR-KO rat arise at ages equivalent to fetal humans and have consequences for excitability that are opposite those found in adults. This suggests identification and treatment should begin early, and be tailored in an age-appropriate manner.
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7. Coury DL. {{What Are the Facts About Autism Spectrum Disorders, Selective Serotonin Reuptake Inhibitors, and Assisted Reproductive Technology?}}. {JAMA Pediatr};2016 (Jul 25):e161444.
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8. Cowley B, Kirjanen S, Partanen J, Castren ML. {{Epileptic Electroencephalography Profile Associates with Attention Problems in Children with Fragile X Syndrome: Review and Case Series}}. {Front Hum Neurosci};2016;10:353.
Fragile X syndrome (FXS) is the most common cause of inherited intellectual disability and a variant of autism spectrum disorder (ASD). The FXS population is quite heterogeneous with respect to comorbidities, which implies the need for a personalized medicine approach, relying on biomarkers or endophenotypes to guide treatment. There is evidence that quantitative electroencephalography (EEG) endophenotype-guided treatments can support increased clinical benefit by considering the patient’s neurophysiological profile. We describe a case series of 11 children diagnosed with FXS, aged one to 14 years, mean 4.6 years. Case data are based on longitudinal clinically-observed reports by attending physicians for comorbid symptoms including awake and asleep EEG profiles. We tabulate the comorbid EEG symptoms in this case series, and relate them to the literature on EEG endophenotypes and associated treatment options. The two most common endophenotypes in the data were diffuse slow oscillations and epileptiform EEG, which have been associated with attention and epilepsy respectively. This observation agrees with reported prevalence of comorbid behavioral symptoms for FXS. In this sample of FXS children, attention problems were found in 37% (4 of 11), and epileptic seizures in 45% (5 of 11). Attention problems were found to associate with the epilepsy endophenotype. From the synthesis of this case series and literature review, we argue that the evidence-based personalized treatment approach, exemplified by neurofeedback, could benefit FXS children by focusing on observable, specific characteristics of comorbid disease symptoms.
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9. Dell’Osso L, Abelli M, Carpita B, Pini S, Castellini G, Carmassi C, Ricca V. {{Historical evolution of the concept of anorexia nervosa and relationships with orthorexia nervosa, autism, and obsessive-compulsive spectrum}}. {Neuropsychiatr Dis Treat};2016;12:1651-1660.
Eating disorders have been defined as « characterized by persistence disturbance of eating or eating-related behavior that results in the altered consumption or absorption of food and that significantly impairs health or psychosocial functioning ». The psychopathology of eating disorders changed across time under the influence of environmental factors, determining the emergence of new phenotypes. Some of these conditions are still under investigation and are not clearly identified as independent diagnostic entities. In this review, the historic evolution of the eating disorder concept up to the recent Diagnostic and Statistical Manual of Mental Disorders, Fifth Edition, has been evaluated. We also examined literature supporting the inclusion of new emergent eating behaviors within the eating disorder spectrum, and their relationship with anorexia, autism, and obsessive-compulsive disorder. In particular, we focused on what is known about the symptoms, epidemiology, assessment, and diagnostic boundaries of a new problematic eating pattern called orthorexia nervosa that could be accepted as a new psychological syndrome, as emphasized by an increasing number of scientific articles in the last few years.
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10. Doshi P, Tilford JM, Ounpraseuth S, Kuo DZ, Payakachat N. {{Do Insurance Mandates Affect Racial Disparities in Outcomes for Children with Autism?}}. {Matern Child Health J};2016 (Jul 23)
Objective The study investigated whether state mandates for private insurers to provide services for children with autism influence racial disparities in outcomes. Methods The study used 2005/2006 and 2009/2010 waves of the National Survey of Children with Special Health Care Needs. Children with a current diagnosis of autism were included in the sample. Children residing in 14 states and the District of Columbia that were not covered by the mandate in the 2005/2006 survey, but were covered in the 2009/2010 survey, served as the mandate group. Children residing in 32 states that were not covered by a mandate in either wave served as the comparison group. Outcome measures assessed included care quality, family economics, and child health. A difference-in-difference-in-differences (DDD) approach was used to assess the impact of the mandates on racial disparities in outcomes. Results Non-white children had less access to family-centered care compared to white children in both waves of data, but this difference was not apparent across mandate and comparison states as only the comparison states had significant differences. Parents of non-white children reported paying less in annual out-of-pocket expenses compared to parents of white children across waves and groups. DDD estimates did not provide evidence that the mandates had statistically significant effects on improving or worsening racial disparities for any outcome measure. Conclusions This study did not find evidence that state mandates on private insurers affected racial disparities in outcomes for children with autism.
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11. El Fatimy R, Davidovic L, Tremblay S, Jaglin X, Dury A, Robert C, De Koninck P, Khandjian EW. {{Tracking the Fragile X Mental Retardation Protein in a Highly Ordered Neuronal RiboNucleoParticles Population: A Link between Stalled Polyribosomes and RNA Granules}}. {PLoS Genet};2016 (Jul);12(7):e1006192.
Local translation at the synapse plays key roles in neuron development and activity-dependent synaptic plasticity. mRNAs are translocated from the neuronal soma to the distant synapses as compacted ribonucleoparticles referred to as RNA granules. These contain many RNA-binding proteins, including the Fragile X Mental Retardation Protein (FMRP), the absence of which results in Fragile X Syndrome, the most common inherited form of intellectual disability and the leading genetic cause of autism. Using FMRP as a tracer, we purified a specific population of RNA granules from mouse brain homogenates. Protein composition analyses revealed a strong relationship between polyribosomes and RNA granules. However, the latter have distinct architectural and structural properties, since they are detected as close compact structures as observed by electron microscopy, and converging evidence point to the possibility that these structures emerge from stalled polyribosomes. Time-lapse video microscopy indicated that single granules merge to form cargoes that are transported from the soma to distal locations. Transcriptomic analyses showed that a subset of mRNAs involved in cytoskeleton remodelling and neural development is selectively enriched in RNA granules. One third of the putative mRNA targets described for FMRP appear to be transported in granules and FMRP is more abundant in granules than in polyribosomes. This observation supports a primary role for FMRP in granules biology. Our findings open new avenues for the study of RNA granule dysfunctions in animal models of nervous system disorders, such as Fragile X syndrome.
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12. Emberti Gialloreti L, Benvenuto A, Battan B, Benassi F, Curatolo P. {{Can biological components predict short-term evolution in Autism Spectrum Disorders? A proof-of-concept study}}. {Ital J Pediatr};2016;42(1):70.
BACKGROUND: The clinical and pathogenetic heterogeneity of Autism Spectrum Disorders (ASD) limits our ability to predict its short- and long-term evolution. Aim of this naturalistic study was to observe the clinical evolution of very young children with ASD for 12 months after first diagnosis, in order to identify those children who might develop a more positive trajectory and understand how a wide range of biological, clinical and familial factors can influence prognosis. METHODS: Ninety-two children were characterized in terms of family history, prenatal and perinatal variables, and clinical conditions. The sample was divided into four subgroups based on the association of 22 biological, clinical and family history variables. Developmental Quotient (DQ), determined using the Psychoeducational Profile Revised (PEP-R), and symptoms severity, measured by means of the Autism Diagnostic Observation Schedule (ADOS), were evaluated at baseline (T0) and after one year (T1), while receiving treatment as usual. Changes in DQ and ADOS between baseline and follow-up and differences in the short-term evolution of the four subgroups were analyzed. RESULTS: At T1, 55.4 % of the children demonstrated some gains either of autistic symptomatology or of developmental skills. Mean ADOS score was 13.63 +/- 3.67 at T0 and 10.85 +/- 4.10 at T1 and mean DQ was 0.64 +/- 0.14 at T0 and 0.66 +/- 0.15 at T1. At follow-up, 33.7 % of the children showed an improvement in DQ and 37 % presented a less severe symptomatology, measured by means of ADOS. Overall, 15.2 % of the sample displayed major improvements both on developmental quotient and ADOS severity score; these children presented less EEG abnormalities and familial psychiatric disorders. The four subgroups, based on biological, clinical and familial variables, showed differing trends in terms of evolution. CONCLUSIONS: Categorizing very young children with ASD in terms of biological, clinical and familial variables can be instrumental in predicting short-term evolution. This exploratory study highlights the importance of a precise characterization and thorough analysis of interactions among biological and clinical variables, in order to predict the developmental evolution in children with ASD.
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13. Fluegge K. {{Does the Clinical Benefit of Ketamine Treatment Offer Any Clues to Autism Spectrum Disorder Etiology?}}. {J Clin Psychiatry};2016 (Jul);77(7):e903.
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14. Forsingdal A, Fejgin K, Nielsen V, Werge T, Nielsen J. {{15q13.3 homozygous knockout mouse model display epilepsy-, autism- and schizophrenia-related phenotypes}}. {Transl Psychiatry};2016;6(7):e860.
The 15q13.3 microdeletion syndrome is caused by a 1.5-MB hemizygous microdeletion located on 15q13.3 affecting seven genes: FAN1; MTMR10; TRPM1; miR-211; KLF13; OTUD7A; and CHRNA7. The 15q13.3 microdeletion increases the risk of intellectual disability, epilepsy, autism spectrum disorder and schizophrenia, though the clinical profile varies considerably. Two mouse models of this syndrome, with hemizygous deletion of the orthologous region in the murine genome, have recently been shown to recapitulate a number of the behavioral and physiological deficits that characterize the human condition. Still, little is known of the underlying biological mechanisms. Eleven human cases with homozygous deletion of the 15q13.3 region have been reported, all with severe functional and physiological impairments. We therefore hypothesized that a 15q13.3 homozygous knockout would confer more pronounced behavioral and physiological deficits in mice than the 15q13.3 hemizygous deletion. Here we report the characterization of a 15q13.3 knockout mouse. We observed marked deficits including altered seizure susceptibility, autistic behavior-related phenotypes, and auditory sensory processing. Several of these deficits, albeit less pronounced, were also found in the 15q13.3 hemizygous littermates indicating a gene-dosage dependency. Our findings strongly indicate that studies of the hemi- and homozygous 15q13.3 mouse strains will facilitate understanding of the biological mechanisms of severe mental disorders.
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15. Freilinger M, Marschik PB. {{50 years of Rett syndrome, 1966-2016 : From parents to clinicians to scientists, and for parents, clinicians, and scientist}}. {Wien Med Wochenschr};2016 (Jul 26)
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16. Garcia-Villamisar D, Dattilo J, Muela C. {{Effects of therapeutic recreation on adults with ASD and ID: a preliminary randomized control trial}}. {J Intellect Disabil Res};2016 (Jul 28)
BACKGROUND: The purpose of this research was to examine effects of a therapeutic recreation (TR) program designed to increase executive function (EF), social skills, adaptive behaviours and well-being of adults with autism spectrum disorder (ASD) and intellectual disability (ID). METHOD: A preliminary pre-test, post-test randomized control group experimental design was used to measure effects of a 40-week TR program designed to increase EF (TR-EF). The TR-EF used instructional electronically based games delivered during 200 1-h sessions (5/week). RESULTS: Participants (experimental group, n = 19; wait-list group, n = 18) were evaluated at baseline and 10 months later. There was a positive and direct impact of the program on several EF and indirect effect on social skills, adaptive behaviour and personal well-being. CONCLUSIONS: Findings provide support for inclusion of EF enrichment as a way to enhance effects of TR interventions for adults with ASD and ID. Preliminary results of this study can be considered in planning TR services in the future. In addition to TR-EF program primary effects on EF, there were indirect benefits on adaptive behaviours, personal well-being and social skills.
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17. Gevarter C, O’Reilly MF, Kuhn M, Watkins L, Ferguson R, Sammarco N, Rojeski L, Sigafoos J. {{Assessing the Acquisition of Requesting a Variety of Preferred Items Using Different SGD Formats for Children with Autism Spectrum Disorder}}. {Assist Technol};2016 (Jul 22)
Five children with autism spectrum disorder were taught to request preferred items using four different augmentative and alternative communication (AAC) displays on an iPad(R)-based speech-generating device. Acquisition was compared using multielement designs. Displays included a symbol-based grid, a photo image with embedded hotspots, a hybrid (photo image with embedded hotspots and symbols), and a pop-up symbol grid. Three participants mastered requesting items from a field of four with at least three displays, and one mastered requesting items in a field-of-two. The fifth participant did not acquire requests in a field of preferred items. Individualized display effects were present, and the photo image appeared to have provided the most consistent advantages for three participants. Some errors were more or less common with specific displays and/or participants. The results have important implications for AAC assessment and implementation protocols.
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18. Gonzalez-Gadea ML, Sigman M, Rattazzi A, Lavin C, Rivera-Rei A, Marino J, Manes F, Ibanez A. {{Neural markers of social and monetary rewards in children with Attention-Deficit/Hyperactivity Disorder and Autism Spectrum Disorder}}. {Sci Rep};2016;6:30588.
Recent theories of decision making propose a shared value-related brain mechanism for encoding monetary and social rewards. We tested this model in children with Attention-Deficit/Hyperactivity Disorder (ADHD), children with Autism Spectrum Disorder (ASD) and control children. We monitored participants’ brain dynamics using high density-electroencephalography while they played a monetary and social reward tasks. Control children exhibited a feedback Error-Related Negativity (fERN) modulation and Anterior Cingulate Cortex (ACC) source activation during both tasks. Remarkably, although cooperation resulted in greater losses for the participants, the betrayal options generated greater fERN responses. ADHD subjects exhibited an absence of fERN modulation and reduced ACC activation during both tasks. ASD subjects exhibited normal fERN modulation during monetary choices and inverted fERN/ACC responses in social options than did controls. These results suggest that in neurotypicals, monetary losses and observed disloyal social decisions induced similar activity in the brain value system. In ADHD children, difficulties in reward processing affected early brain signatures of monetary and social decisions. Conversely, ASD children showed intact neural markers of value-related monetary mechanisms, but no brain modulation by prosociality in the social task. These results offer insight into the typical and atypical developments of neural correlates of monetary and social reward processing.
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19. Hrdlicka M, Vacova M, Oslejskova H, Gondzova V, Vadlejchova I, Kocourkova J, Koutek J, Dudova I. {{Age at diagnosis of autism spectrum disorders: is there an association with socioeconomic status and family self-education about autism?}}. {Neuropsychiatr Dis Treat};2016;12:1639-1644.
BACKGROUND: The marked increase in autism spectrum disorders (ASD) prevalence has stimulated worldwide interest in exploring broader circumstances of care of autistic children, including the role of socioeconomic status (SES) and family information on autism. METHODS: Our sample comprised of 160 children who participated in a diagnostic examination focused on autism, and their parents who completed a simple descriptive questionnaire focusing on the family situation as well as family self-education about autism. The diagnosis of ASD was confirmed in 120 children (75% of the sample; 94 boys, 26 girls) with mean age 6.2+/-2.7 years (median 5.3, range 2.2-17.2 years). In 71 autistic patients (59.2%), a diagnosis of mental retardation was also established. RESULTS: The age at diagnosis of ASD correlated negatively with maternal (P=0.014) and paternal (P=0.002) ages at the time of birth of the ASD child as well as with paternal (P=0.002) and maternal (P=0.050) education. The age at diagnosis of ASD did not correlate with family SES. Mothers were significantly more active in seeking information on autism than fathers or both parents equally (80 vs 9 vs 28 cases, respectively; P<0.001). The mean number of information sources on autism was 3.5+/-1.8 with a range 0-9. The mean number of resources did not differ among the three SES groups (3.50 vs 3.49 vs 4.25, respectively; P=0.704). The mean number of sources did not correlate with the age at diagnosis of ASD. The most often used sources were the Internet (81.7%), followed by psychologists (48.3%), books (46.7%), and child and adolescent psychiatrists (43.3%). CONCLUSION: An earlier diagnosis of ASD is associated with higher parental age at birth and higher parental education but not with family SES or number of family information sources. Lien vers le texte intégral (Open Access ou abonnement)
20. Jiang H, Liu L, Sun DL, Yin XN, Chen ZD, Wu CA, Chen WQ. {{[Interaction between passive smoking and folic acid supplement during pregnancy on autism spectrum disorder behaviors in children aged 3 years]}}. {Zhonghua Liu Xing Bing Xue Za Zhi};2016 (Jul);37(7):940-944.
OBJECTIVE: To explore the interaction between passive smoking and folic acid supplement during pregnancy on children autism spectrum disorder(ASD)behaviors. METHODS: Children aged about 3 years were enrolled at kindergarten entrance in Longhua district of Shenzhen in 2014. Self-administered questionnaires were completed by their primary caregivers and the information about children’ s age, gender, history of preterm birth and low birth weight, parents’ education level, parents’ reproductive age and family income were collected. The children ASD behaviors were assessed with Autism Behavior Checklist(ABC). According to the cut point of ABC, the children were divided into normal group with score less than 31, sub-clinical group with score ranging from 31 to 61 and suspect clinical group with score no less than 62. After controlling for potential confounders, multivariate logistic regression analysis was performed to evaluate the main effects and the interaction between passive smoking and folic acid supplement during pregnancy on children ASD behaviors. RESULTS: Maternal passive smoking during pregnancy was significantly associated with children ASD behaviors(sub-clinical group: OR=1.48; suspect clinical group: OR= 2.85), and maternal folic acid supplement during pregnancy was not related to children ASD behaviors(sub-clinical group: OR=1.04; suspect clinical group: OR=0.75). Stratified analysis showed that folic acid supplement during pregnancy was negatively associated with children ASD behaviors(suspect clinical group: OR=0.30)among children without mothers’ passive smoking during pregnancy, and that mothers’ passive smoking during pregnancy was positively associated with children ASD behaviors(sub-clinical group: OR=1.52; suspect clinical group: OR=4.45)among the children whose mothers had folic acid supplement during pregnancy. Furthermore, an interaction effect on children ASD behaviors was found between passive smoking and folic acid supplement during pregnancy(suspect clinical group: OR=5.30). CONCLUSION: Passive smoking and folic acid supplement during pregnancy were related to children ASD behaviors and had an interaction on children ASD behaviors.
21. Kinay D, Kaya I, Soyata AZ, Kilincaslan A. {{Beneficial Effects of Lithium on Severe Irritability in a Patient with Rett Syndrome}}. {J Child Adolesc Psychopharmacol};2016 (Jul 27)
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22. Kirchner J, Ruch W, Dziobek I. {{Brief Report: Character Strengths in Adults with Autism Spectrum Disorder Without Intellectual Impairment}}. {J Autism Dev Disord};2016 (Jul 25)
In the current study, we assessed character strengths in individuals with autism spectrum disorder (ASD, n = 32) and neurotypical controls (n = 32) using the Values in Action Inventory (VIA-IS, Peterson and Seligman 2004) and explored associations with levels of satisfaction with life (SWL). The most frequently endorsed signature strengths (i.e., five top-ranked strengths within an individual’s strength ranking) were emotional (humour, love) and interpersonal strengths (kindness, fairness) in the control group, the most frequently endorsed signature strengths in the ASD group were intellectual strengths (open-mindedness, creativity, love of learning). Interpersonal and emotional strengths had, however, the highest positive associations with SWL in the ASD group.
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23. Kleberg JL, Thorup E, Falck-Ytter T. {{Visual orienting in children with autism: Hyper-responsiveness to human eyes presented after a brief alerting audio-signal, but hyporesponsiveness to eyes presented without sound}}. {Autism Res};2016 (Jul 25)
Autism Spectrum Disorder (ASD) has been associated with reduced orienting to social stimuli such as eyes, but the results are inconsistent. It is not known whether atypicalities in phasic alerting could play a role in putative altered social orienting in ASD. Here, we show that in unisensory (visual) trials, children with ASD are slower to orient to eyes (among distractors) than controls matched for age, sex, and nonverbal IQ. However, in another condition where a brief spatially nonpredictive sound was presented just before the visual targets, this group effect was reversed. Our results indicate that orienting to social versus nonsocial stimuli is differently modulated by phasic alerting mechanisms in young children with ASD. Autism Res 2016. (c) 2016 The Authors Autism Research published by Wiley Periodicals, Inc. on behalf of International Society for Autism Research.
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24. Kung KT, Spencer D, Pasterski V, Neufeld S, Glover V, O’Connor TG, Hindmarsh PC, Hughes IA, Acerini CL, Hines M. {{No relationship between prenatal androgen exposure and autistic traits: convergent evidence from studies of children with congenital adrenal hyperplasia and of amniotic testosterone concentrations in typically developing children}}. {J Child Psychol Psychiatry};2016 (Jul 27)
BACKGROUND: There is a marked male preponderance in autism spectrum conditions. The extreme male brain theory and the fetal androgen theory of autism suggest that elevated prenatal testosterone exposure is a key contributor to autistic traits. The current paper reports findings from two separate studies that test this hypothesis. METHODS: A parent-report questionnaire, the Childhood Autism Spectrum Test (CAST), was employed to measure autistic traits in both studies. The first study examined autistic traits in young children with congenital adrenal hyperplasia (CAH), a condition causing unusually high concentrations of testosterone prenatally in girls. Eighty one children with CAH (43 girls) and 72 unaffected relatives (41 girls), aged 4-11 years, were assessed. The second study examined autistic traits in relation to amniotic testosterone in 92 typically developing children (48 girls), aged 3-5 years. RESULTS: Findings from neither study supported the association between prenatal androgen (testosterone) exposure and autistic traits. Specifically, young girls with and without CAH did not differ significantly in CAST scores and amniotic testosterone concentrations were not significantly associated with CAST scores in boys, girls, or the whole sample. CONCLUSIONS: These studies do not support a relationship between prenatal testosterone exposure and autistic traits. These findings augment prior research suggesting no consistent relationship between early androgen exposure and autistic traits.
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25. Lee E, Lee J, Kim E. {{Excitation/Inhibition Imbalance in Animal Models of Autism Spectrum Disorders}}. {Biol Psychiatry};2016 (May 20)
Imbalances between excitation and inhibition in synaptic transmission and neural circuits have been implicated in autism spectrum disorders. Excitation and inhibition imbalances are frequently observed in animal models of autism spectrum disorders, and their correction normalizes key autistic-like phenotypes in these animals. These results suggest that excitation and inhibition imbalances may contribute to the development and maintenance of autism spectrum disorders and represent an important therapeutic target.
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26. Levin IP, Gaeth GJ, Foley-Nicpon M, Yegorova V, Cederberg C, Yan H. {{Corrigendum: Extending decision making competence to special populations: a pilot study of persons on the autism spectrum}}. {Front Psychol};2016;7:971.
[This corrects the article on p. 539 in vol. 6, PMID: 25972831.].
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27. Marini A, Ferretti F, Chiera A, Magni R, Adornetti I, Nicchiarelli S, Vicari S, Valeri G. {{Brief Report: Self-Based and Mechanical-Based Future Thinking in Children with Autism Spectrum Disorder}}. {J Autism Dev Disord};2016 (Jul 26)
This brief report is a partial replication of the study by Jackson and Atance (J Dev Disabil 14:40-45, 2008) assessing nonverbal Self-based and Mechanical-based future thinking (FT) in children with Autism Spectrum Disorder (ASD). In a first step, these tasks were administered to 30 children with ASD. The two Self-based tasks were then modified as a verbal component could not be completely ruled out. Consequently, 77 children with ASD and 77 children with typical development received the modified Self-based FT tasks and the Mechanical-based FT tasks. We partially replicated the previous findings. Participants with ASD had impaired FT in both kinds of tasks and both groups performed better on tasks assessing Mechanical-based FT than Self-based FT. These results suggest that impairments of FT in ASD are not limited to Self-Projection.
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28. Martin A. {{Leo Kanner and Hans Asperger: Setting the Historical Record Straight}}. {J Am Acad Child Adolesc Psychiatry};2016 (Aug);55(8):728.
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29. Murphy CM, Wilson CE, Robertson DM, Ecker C, Daly EM, Hammond N, Galanopoulos A, Dud I, Murphy DG, McAlonan GM. {{Autism spectrum disorder in adults: diagnosis, management, and health services development}}. {Neuropsychiatr Dis Treat};2016;12:1669-1686.
Autism spectrum disorder (ASD) is a common neurodevelopmental disorder characterized by pervasive difficulties since early childhood across reciprocal social communication and restricted, repetitive interests and behaviors. Although early ASD research focused primarily on children, there is increasing recognition that ASD is a lifelong neurodevelopmental disorder. However, although health and education services for children with ASD are relatively well established, service provision for adults with ASD is in its infancy. There is a lack of health services research for adults with ASD, including identification of comorbid health difficulties, rigorous treatment trials (pharmacological and psychological), development of new pharmacotherapies, investigation of transition and aging across the lifespan, and consideration of sex differences and the views of people with ASD. This article reviews available evidence regarding the etiology, legislation, diagnosis, management, and service provision for adults with ASD and considers what is needed to support adults with ASD as they age. We conclude that health services research for adults with ASD is urgently warranted. In particular, research is required to better understand the needs of adults with ASD, including health, aging, service development, transition, treatment options across the lifespan, sex, and the views of people with ASD. Additionally, the outcomes of recent international legislative efforts to raise awareness of ASD and service provision for adults with ASD are to be determined. Future research is required to identify high-quality, evidence-based, and cost-effective models of care. Furthermore, future health services research is also required at the beginning and end of adulthood, including improved transition from youth to adult health care and increased understanding of aging and health in older adults with ASD.
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30. Nardone S, Elliott E. {{The Interaction between the Immune System and Epigenetics in the Etiology of Autism Spectrum Disorders}}. {Front Neurosci};2016;10:329.
Recent studies have firmly established that the etiology of autism includes both genetic and environmental components. However, we are only just beginning to elucidate the environmental factors that might be involved in the development of autism, as well as the molecular mechanisms through which they function. Mounting epidemiological and biological evidence suggest that prenatal factors that induce a more activated immune state in the mother are involved in the development of autism. In parallel, molecular studies have highlighted the role of epigenetics in brain development as a process susceptible to environmental influences and potentially causative of autism spectrum disorders (ASD). In this review, we will discuss converging evidence for a multidirectional interaction between immune system activation in the mother during pregnancy and epigenetic regulation in the brain of the fetus that may cooperate to produce an autistic phenotype. This interaction includes immune factor-induced changes in epigenetic signatures in the brain, dysregulation of epigenetic modifications specifically in genomic regions that encode immune functions, and aberrant epigenetic regulation of microglia. Overall, the interaction between immune system activation in the mother and the subsequent epigenetic dysregulation in the developing fetal brain may be a main consideration for the environmental factors that cause autism.
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31. Oberg AS, D’Onofrio BM, Rickert ME, Hernandez-Diaz S, Ecker JL, Almqvist C, Larsson H, Lichtenstein P, Bateman BT. {{Association of Labor Induction With Offspring Risk of Autism Spectrum Disorders}}. {JAMA Pediatr};2016 (Jul 25):e160965.
Importance: Induction of labor is a frequently performed obstetrical intervention. It would thus be of great concern if reported associations between labor induction and offspring risk of autism spectrum disorders (ASD) reflected causal influence. Objective: To assess the associations of labor induction with ASD, comparing differentially exposed relatives (siblings and cousins discordant for induction). Design, Setting, and Participants: Follow-up of all live births in Sweden between 1992 and 2005, defined in the Medical Birth Register. The register was linked to population registers of familial relations, inpatient and outpatient visits, and education records. Diagnoses of ASD were from 2001 through 2013, and data were analyzed in the 2015-2016 year. Exposures: Induction of labor. Main Outcomes and Measures: Autism spectrum disorders identified by diagnoses from inpatient and outpatient records between 2001 and 2013. Hazard ratios (HRs) quantified the association between labor induction and offspring ASD. In addition to considering a wide range of measured confounders, comparison of exposure-discordant births to the same woman allowed additional control for all unmeasured factors shared by siblings. Results: The full cohort included 1362950 births, of which 22077 offspring (1.6%) were diagnosed with ASD by ages 8 years through 21 years. In conventional models of the full cohort, associations between labor induction and offspring ASD were attenuated but remained statistically significant after adjustment for measured potential confounders (HR, 1.19; 95% CI, 1.13-1.24). When comparison was made within siblings whose births were discordant with respect to induction, thus accounting for all environmental and genetic factors shared by siblings, labor induction was no longer associated with offspring ASD (HR, 0.99; 95% CI, 0.88-1.10). Conclusions and Relevance: In this nationwide sample of live births we observed no association between induction of labor and offspring ASD within sibling comparison. Our findings suggest that concern for ASD should not factor into the clinical decision about whether to induce labor.
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32. Ornoy A, Weinstein-Fudim L, Ergaz Z. {{Genetic Syndromes, Maternal Diseases and Antenatal Factors Associated with Autism Spectrum Disorders (ASD)}}. {Front Neurosci};2016;10:316.
Autism spectrum disorder (ASD) affecting about 1% of all children is associated, in addition to complex genetic factors, with a variety of prenatal, perinatal, and postnatal etiologies. In addition, ASD is often an important clinical presentation of some well-known genetic syndromes in human. We discuss these syndromes as well as the role of the more important prenatal factors affecting the fetus throughout pregnancy which may also be associated with ASD. Among the genetic disorders we find Fragile X, Rett syndrome, tuberous sclerosis, Timothy syndrome, Phelan-McDermid syndrome, Hamartoma tumor syndrome, Prader-Willi and Angelman syndromes, and a few others. Among the maternal diseases in pregnancy associated with ASD are diabetes mellitus (PGDM and/or GDM), some maternal autoimmune diseases like antiphospholipid syndrome (APLS) with anti-beta2GP1 IgG antibodies and thyroid disease with anti-thyroid peroxidase (TPO) antibodies, preeclampsia and some other autoimmune diseases with IgG antibodies that might affect fetal brain development. Other related factors are maternal infections (rubella and CMV with fetal brain injuries, and possibly Influenza with fever), prolonged fever and maternal inflammation, especially with changes in a variety of inflammatory cytokines and antibodies that cross the placenta and affect the fetal brain. Among the drugs are valproic acid, thalidomide, misoprostol, and possibly SSRIs. beta2-adrenergic receptor agonists and paracetamol have also lately been associated with increased rate of ASD but the data is too preliminary and inconclusive. Associations were also described with ethanol, cocaine, and possibly heavy metals, heavy smoking, and folic acid deficiency. Recent studies show that heavy exposure to pesticides and air pollution, especially particulate matter < 2.5 and 10 mum in diameter (PM2.5 and PM10) during pregnancy is also associated with ASD. Finally, we have to remember that many of the associations mentioned in this review are only partially proven, and not all are "clean" of different confounding factors. The associations described in this review emphasize again how little we know about the etiology and pathogenesis of ASD. It is obvious that we need more epidemiologic data to establish many of these associations, but if proven, they might be promising avenues for prevention. Lien vers le texte intégral (Open Access ou abonnement)
33. Peterson KM, Piazza CC, Volkert VM. {{A comparison of a modified sequential oral sensory approach to an applied behavior-analytic approach in the treatment of food selectivity in children with autism spectrum disorders}}. {J Appl Behav Anal};2016 (Jul 23)
Treatments of pediatric feeding disorders based on applied behavior analysis (ABA) have the most empirical support in the research literature (Volkert & Piazza, 2012); however, professionals often recommend, and caregivers often use, treatments that have limited empirical support. In the current investigation, we compared a modified sequential oral sensory approach (M-SOS; Benson, Parke, Gannon, & Munoz, 2013) to an ABA approach for the treatment of the food selectivity of 6 children with autism. We randomly assigned 3 children to ABA and 3 children to M-SOS and compared the effects of treatment in a multiple baseline design across novel, healthy target foods. We used a multielement design to assess treatment generalization. Consumption of target foods increased for children who received ABA, but not for children who received M-SOS. We subsequently implemented ABA with the children for whom M-SOS was not effective and observed a potential treatment generalization effect during ABA when M-SOS preceded ABA.
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34. Reed P, Howse J, Ho B, Osborne LA. {{Relationship between perceived limit-setting abilities, autism spectrum disorder severity, behaviour problems and parenting stress in mothers of children with autism spectrum disorder}}. {Autism};2016 (Jul 28)
Parenting stress in mothers of children with autism spectrum disorder (ASD) is high and impacts perceptions about parenting. This study examined the relationship between parenting stress and observer-perceived limit-setting ability. Participants’ perceptions of other parents’ limit-setting ability were assessed by showing participants video clips of parenting behaviours. Mothers of 93 children with autism spectrum disorder completed an online survey regarding the severity of their own child’s autism spectrum disorder (Social Communication Questionnaire), their child’s behaviour problems (Strengths and Difficulties Questionnaire) and their own levels of parenting stress (Questionnaire on Resources and Stress). They were shown five videos of other parents interacting with children with autism spectrum disorder and were asked to rate the limit-setting abilities observed in each video using the Parent-Child Relationship Inventory. Higher parenting stress negatively related to judgements about others’ limit-setting skills. This mirrors the literature regarding the relationship between self-reported parenting stress and rating child behaviour more negatively. It suggests that stress negatively impacts a wide range of judgements and implies that caution may be required when interpreting the results of studies in which parenting skills are assessed by self-report.
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35. Saldarriaga W, Ruiz FA, Tassone F, Hagerman R. {{Down Syndrome and Fragile X Syndrome in a Colombian Woman: Case Report}}. {J Appl Res Intellect Disabil};2016 (Jul 26)
BACKGROUND: Down syndrome (DS) and Fragile X syndrome (FXS) are the major genetic causes of intellectual disabilities. Here, we present a case of a 32-year-old woman with the diagnosis of both FXS and DS. She is the daughter of a 47-year-old pre-mutation woman who also has three sons with FXS. METHODS: Cytogenetic testing detected the presence of a complete trisomy 21. A combination of PCR and Southern blot analysis was utilized to document the presence of the FMR1 full mutation. RESULTS: The patient has physical characteristics and behavioural disturbances typical of both FXS and DS, which were confirmed by molecular testing. Her treatment plan included a trial of sertraline because of the severity of her shyness and lack of language. She had an excellent response to sertraline with improvement in shyness and social interactions, particularly with family members. CONCLUSIONS: In this study, we report the case of a woman with both FXS and DS, which is the fifth case of FXS and DS in the world’s literature. The patient is from Ricaurte, a small town in Colombia, South America, where there is the world’s highest prevalence for FXS.
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36. Schertz HH, Odom SL, Baggett KM, Sideris JH. {{Parent-Reported Repetitive Behavior in Toddlers on the Autism Spectrum}}. {J Autism Dev Disord};2016 (Jul 26)
Toddlers with autism spectrum disorder (ASD) were assessed on the Repetitive Behavior Scale-Revised (RBS-R), which we found to have acceptable internal consistency. Stereotypical subscale scores showed a negligible association with cognitive level, but correlated more strongly with adaptive and social indicators. Relative to earlier reported RBS-R scores for older age groups, toddlers’ scores trended toward higher stereotyped behavior and lower ritualistic/sameness behavior. Our findings on associations with developmental indicators align with those of researchers who used more resource-intensive repetitive behavior measures. The convergence of these findings with those derived from other measurement methods suggests that the RBS-R, a cost effective parent-report measure, is a viable means of assessing repetitive behavior in toddlers with autism.
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37. Simon DM, Wallace MT. {{Dysfunction of sensory oscillations in Autism Spectrum Disorder}}. {Neurosci Biobehav Rev};2016 (Jul 19);68:848-861.
Autism Spectrum Disorder (ASD) is a highly prevalent developmental disability characterized by deficits in social communication and interaction, restricted interests, and repetitive behaviors. Recently, anomalous sensory and perceptual function has gained an increased level of recognition as an important feature of ASD. A specific impairment in the ability to integrate information across brain networks has been proposed to contribute to these disruptions. A crucial mechanism for these integrative processes is the rhythmic synchronization of neuronal excitability across neural populations; collectively known as oscillations. In ASD there is believed to be a deficit in the ability to efficiently couple functional neural networks using these oscillations. This review discusses evidence for disruptions in oscillatory synchronization in ASD, and how disturbance of this neural mechanism contributes to alterations in sensory and perceptual function. The review also frames oscillatory data from the perspective of prevailing neurobiologically-inspired theories of ASD.
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38. Srinivasan SM, Eigsti IM, Neelly L, Bhat AN. {{The effects of embodied rhythm and robotic interventions on the spontaneous and responsive social attention patterns of children with Autism Spectrum Disorder (ASD): A pilot randomized controlled trial}}. {Res Autism Spectr Disord};2016 (Jul);27:54-72.
We compared the effects of 8-weeks of rhythm and robotic interventions with those of a comparison, standard-of-care intervention, on the spontaneous and responsive social attention patterns of school-age children with Autism Spectrum Disorder. Attention patterns were examined within a standardized pretest/posttest measure of joint attention (JA) and a training-specific social attention measure during early, mid, and late training sessions. The rhythm and comparison groups demonstrated improvements in JA. Social attention was greater in the rhythm followed by the robot and lastly the comparison group. The robot and comparison groups spent maximum time fixating on the robot and objects, respectively. Across sessions, the robot group decreased attention to the robot and increased attention to elsewhere. Overall, rhythmic movement contexts afford sustained social monitoring in children with autism.
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39. Srisinghasongkram P, Pruksananonda C, Chonchaiya W. {{Two-Step Screening of the Modified Checklist for Autism in Toddlers in Thai Children with Language Delay and Typically Developing Children}}. {J Autism Dev Disord};2016 (Jul 26)
This study aimed to validate the use of two-step Modified Checklist for Autism in Toddlers (M-CHAT) screening adapted for a Thai population. Our participants included both high-risk children with language delay (N = 109) and low-risk children with typical development (N = 732). Compared with the critical scoring criteria, the total scoring method (failing >/=3 items) yielded the highest sensitivity of 90.7 %; specificity was 99.7 %, positive predictive value 96.1 %, and negative predictive value 99.4 %. The two-step M-CHAT screening is a promising instrument that can be utilized to detect ASD in Thai children in both primary and clinical settings. Moreover, socio-cultural context should be considered when adopting the use and interpretation of the M-CHAT for each country.
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40. St John T, Estes AM, Dager SR, Kostopoulos P, Wolff JJ, Pandey J, Elison JT, Paterson SJ, Schultz RT, Botteron K, Hazlett H, Piven J. {{Emerging Executive Functioning and Motor Development in Infants at High and Low Risk for Autism Spectrum Disorder}}. {Front Psychol};2016;7:1016.
Existing evidence suggests executive functioning (EF) deficits may be present in children with autism spectrum disorder (ASD) by 3 years of age. It is less clear when, prior to 3 years, EF deficits may emerge and how EF unfold over time. The contribution of motor skill difficulties to poorer EF in children with ASD has not been systematically studied. We investigated the developmental trajectory of EF in infants at high and low familial risk for ASD (HR and LR) and the potential associations between motor skills, diagnostic group, and EF performance. Participants included 186 HR and 76 LR infants. EF (A-not-B), motor skills (Fine and Gross Motor), and cognitive ability were directly assessed at 12 months and 24 months of age. Participants were directly evaluated for ASD at 24 months using DSM-IV-TR criteria and categorized as HR-ASD, HR-Negative, and LR-Negative. HR-ASD and HR-Negative siblings demonstrated less improvement in EF over time compared to the LR-Negative group. Motor skills were associated with group and EF performance at 12 months. No group differences were found at 12 months, but at 24 months, the HR-ASD and HR-Negative groups performed worse than the LR-Negative group overall after controlling for visual reception and maternal education. On reversal trials, the HR-ASD group performed worse than the LR-Negative group. Motor skills were associated with group and EF performance on reversal trials at 24 months. Findings suggest that HR siblings demonstrate altered EF development and that motor skills may play an important role in this process.
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41. Szachta P, Skonieczna-Zydecka K, Adler G, Karakua-Juchnowicz H, Madlani H, Ignys I. {{Immune related factors in pathogenesis of autism spectrum disorders}}. {Eur Rev Med Pharmacol Sci};2016 (Jul);20(14):3060-3072.
OBJECTIVE: Etiology of Autism Spectrum Disorders (ASD) is insufficiently known. It is suggested that genes play a crucial role in ASD but additional environmental factors to exacerbate the syndrome are needed. Recently, the inflammatory factors in ASD that may predispose to the disorder attract a great attention. Therefore, the aim of this article was to review the literature on the possible association of the immune system malfunctions with the risk of developing ASD. MATERIALS AND METHODS: Available articles from PubMed and Google Scholar were analyzed using time descriptors: 1996-2015 and key words: autism spectrum disorder, cytokines and immune system. RESULTS: Individuals with ASD demonstrate aberrant immune response in central nervous system, peripheral blood and gastrointestinal tract. CONCLUSIONS: Immune malfunctions may play a role in developing ASD.
42. Thillay A, Lemaire M, Roux S, Houy-Durand E, Barthelemy C, Knight RT, Bidet-Caulet A, Bonnet-Brilhault F. {{Atypical Brain Mechanisms of Prediction According to Uncertainty in Autism}}. {Front Neurosci};2016;10:317.
Resistance to change is often reported in autism and may arise from an inability to predict events in uncertain contexts. Using EEG recorded in 12 adults with autism and age-matched controls performing a visual target detection task, we characterized the influence of a certain context (targets preceded by a predictive sequence of three distinct stimuli) or an uncertain context (random targets) on behavior and electrophysiological markers of predictive processing. During an uncertain context, adults with autism were faster than controls to detect targets. They also had an enhancement in CNV amplitude preceding all random stimuli-indexing enhanced preparatory mechanisms, and an earlier N2 to targets-reflecting faster information processing-compared to controls. During a certain context, both controls and adults with autism presented an increase in P3 amplitude to predictive stimuli-indexing information encoding of the predictive sequence, an enhancement in CNV amplitude preceding predictable targets-corresponding to the deployment of preparatory mechanisms, and an earlier P3 to predictable targets-reflecting efficient prediction building and implementation. These results suggest an efficient extraction of predictive information to generate predictions in both controls and adults with autism during a certain context. However, adults with autism displayed a failure to decrease mu power during motor preparation accompanied by a reduced benefit in reaction times to predictable targets. The data reveal that patients with autism over-anticipate stimuli occurring in an uncertain context, in accord with their sense of being overwhelmed by incoming information. These results suggest that adults with autism cannot flexibly modulate cortical activity according to changing levels of uncertainty.
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43. Tye C, Johnson KA, Kelly SP, Asherson P, Kuntsi J, Ashwood KL, Azadi B, Bolton P, McLoughlin G. {{Response time variability under slow- and fast-incentive conditions in children with ASD, ADHD and ASD+ADHD}}. {J Child Psychol Psychiatry};2016 (Jul 28)
BACKGROUND: Attention deficit hyperactivity disorder (ADHD) and autism spectrum disorder (ASD) show significant behavioural and genetic overlap. Both ADHD and ASD are characterised by poor performance on a range of cognitive tasks. In particular, increased response time variability (RTV) is a promising indicator of risk for both ADHD and ASD. However, it is not clear whether different indices of RTV and changes to RTV according to task conditions are able to discriminate between the two disorders. METHODS: Children with ASD (n = 19), ADHD (n = 18), ASD + ADHD (n = 29) and typically developing controls (TDC; n = 26) performed a four-choice RT task with slow-baseline and fast-incentive conditions. Performance was characterised by mean RT (MRT), standard deviation of RT (SD-RT), coefficient of variation (CV) and ex-Gaussian distribution measures of Mu, Sigma and Tau. RESULTS: In the slow-baseline condition, categorical diagnoses and trait measures converged to indicate that children with ADHD-only and ASD + ADHD demonstrated increased MRT, SD-RT, CV and Tau compared to TDC and ASD-only. Importantly, greater improvement in MRT, SD-RT and Tau was demonstrated in ADHD and ASD + ADHD from slow-baseline to fast-incentive conditions compared to TDC and ASD-only. CONCLUSIONS: Slower and more variable RTs are markers of ADHD compared to ASD and typically developing controls during slow and less rewarding conditions. Energetic factors and rewards improve task performance to a greater extent in children with ADHD compared to children with ASD. These findings suggest that RTV can be distinguished in ASD, ADHD and ASD + ADHD based on the indices of variability used and the conditions in which they are elicited. Further work identifying neural processes underlying increased RTV is warranted, in order to elucidate disorder-specific and disorder-convergent aetiological pathways.
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44. Uljarevic M, Evans DW. {{Relationship between repetitive behaviour and fear across normative development, autism spectrum disorder, and down syndrome}}. {Autism Res};2016 (Jul 26)
The present study had two aims: first to compare levels of restricted and repetitive behaviours (RRB) across two groups of typically developing (TD) children, and two disorders: Autism Spectrum Disorder (ASD) and Down syndrome (DS), and second to explore the relationship between fear and repetitive behaviours in these four groups. Parents of 41 offspring with ASD (Mage = 123.39 months, SDage = 27.67), 38 offspring with DS (Mage = 125.37 months, SDage = 45.71), 45 typically developing children matched to the mental age (MA) of the DS group (TD MA; Mage = 51.13 months, SDage = 22.1), and 42 chronological age (TD CA; Mage = 117.93 months, SDage = 22.91) matched TD children, completed measures of RRB and fear. ANOVAs revealed differences across the four groups on the RRB subscale scores: « Just Right » F(3,162) = 16.62, P < 0.001; Rigid Routines F(3,162) = 52.76, P < 0.001; Sensory behaviours F(3,162) = 23.26, P < 0.001. Post-hoc comparisons revealed that children with ASD had the highest RRB levels followed by DS, TD MA, and TD CA children. In children with ASD, higher levels of fear were related to higher RRB levels. Similar, albeit less strong, patterns of associations was found among DS and TD MA children but not in older TD CA children. This study provided evidence of a fear-RRB association in children with ASD, DS, and two groups of TD children. Autism Res 2016. (c) 2016 International Society for Autism Research. Lien vers le texte intégral (Open Access ou abonnement)
45. Wei H, Ma Y, Liu J, Ding C, Jin G, Wang Y, Hu F, Yu L. {{Inhibition of IL-6 trans-signaling in the brain increases sociability in the BTBR mouse model of autism}}. {Biochim Biophys Acta};2016 (Jul 25)
Autism is a severe neurodevelopmental disorder with a large population prevalence, characterized by abnormal reciprocal social interactions, communication deficits, and repetitive behaviors with restricted interests. The BTBR T+Itpr3tf (BTBR) mice have emerged as strong candidates to serve as models of a range of autism-relevant behaviors. Increasing evidences suggest that interleukin (IL)-6, one of the most important neuroimmune factors, was involved in the pathophysiology of autism. It is of great importance to further investigate whether therapeutic interventions in autism can be achieved through the manipulation of IL-6. Our previous studies showed that IL-6 elevation in the brain could mediate autistic-like behaviors, possibly through the imbalances of neural circuitry and impairments of synaptic plasticity. In this study, we evaluate whether inhibiting IL-6 signaling in the brain is sufficient to modulate the autism-like behaviors on the BTBR mice. The results showed that chronic infusion of an analog of the endogenous IL-6 trans-signaling blocker sgp130Fc protein increased the sociability in BTBR mice. Furthermore, no change was observed in the number of excitatory synapse, level of synaptic proteins, density of dentitic spine and postsynaptic density in BTBR cortices after inhibiting IL-6 trans-signaling. However, inhibition of IL-6 trans-signaling increased the evoked glutamate release in synaptoneurosomes from the cerebral cortex of BTBR mice. Our findings suggest that inhibition of excessive production of IL-6 may have selective therapeutic efficacy in treating abnormal social behaviors in autism.
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46. Wise J. {{Induced labour is not associated with risk of autism, say researchers}}. {BMJ};2016;354:i4135.
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47. Woynaroski T, Oller DK, Keceli-Kaysili B, Xu D, Richards JA, Gilkerson J, Gray S, Yoder P. {{The stability and validity of automated vocal analysis in preverbal preschoolers with autism spectrum disorder}}. {Autism Res};2016 (Jul 26)
Theory and research suggest that vocal development predicts « useful speech » in preschoolers with autism spectrum disorder (ASD), but conventional methods for measurement of vocal development are costly and time consuming. This longitudinal correlational study examines the reliability and validity of several automated indices of vocalization development relative to an index derived from human coded, conventional communication samples in a sample of preverbal preschoolers with ASD. Automated indices of vocal development were derived using software that is presently « in development » and/or only available for research purposes and using commercially available Language ENvironment Analysis (LENA) software. Indices of vocal development that could be derived using the software available for research purposes: (a) were highly stable with a single day-long audio recording, (b) predicted future spoken vocabulary to a degree that was nonsignificantly different from the index derived from conventional communication samples, and (c) continued to predict future spoken vocabulary even after controlling for concurrent vocabulary in our sample. The score derived from standard LENA software was similarly stable, but was not significantly correlated with future spoken vocabulary. Findings suggest that automated vocal analysis is a valid and reliable alternative to time intensive and expensive conventional communication samples for measurement of vocal development of preverbal preschoolers with ASD in research and clinical practice. Autism Res 2016. (c) 2016 International Society for Autism Research, Wiley Periodicals, Inc.
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48. Xie J, Li H, Zhu H, Huang L, Zhang X, Zhou Y, Zhou Q, Xu W. {{[Analysis of DIAPH3 gene mutation in a boy with autism spectrum disorder]}}. {Zhonghua Yi Xue Yi Chuan Xue Za Zhi};2016 (Aug 10);33(4):481-484.
OBJECTIVE: To analyze the clinical manifestations and gene mutation of a 6 year old boy with autism spectrum disorders (ASD). METHODS: Peripheral blood of the boy and his parents were subjected to genetic testing. RESULTS: The patient was diagnosed with typical autism. Exome sequencing has identified mutations of four candidate genes, namely TUT1, DIAPH3, REELIN and SETD2, which were confirmed with Sanger sequencing. Analysis of family members confirmed that the missense mutations of DIAPH3 and SETD2 genes were of de novo origin. CONCLUSION: Missense mutations of DIAPH3 and SETD2 genes may have contributed to the risk of ASD. Disrupted neurogenesis associated with such mutations may have been the underlying mechanism for ASD.
