1. Bartlomiej G, Zygmunt G, Magdalena G, Malgorzata A, Beata K, Piotr K, Halina RK, Jerzy C, Gayane M. {{Toxin profile of fecal Clostridium perfringens strains isolated from children with autism spectrum disorders}}. {Anaerobe}. 2018.
Infectious factors are taken into consideration in pathophysiology of autism spectrum disorders (ASD). ASD patients often suffer from gastrointestinal disorders. The intestinal microbiota of autistic patients significantly differs from that in healthy individuals. The aim of the study was to compare the profile of toxins produced by C. perfringens strains isolated from feces of children with ASD, with healthy individuals and obese subjects. This study included 111 strains of C. perfringens: 49 isolates from 29 children with ASD, 30 – from 17 healthy individuals and 32 – from 24 young obese subjects. Alpha, beta, beta2, epsilon, iota and enterotoxin genes were detected using appropriate PCRs. The alpha toxin gene (cpa) was present in all 111 examined strains (100%). The beta2 gene (cpb2) was detected in 45/49 strains (91.8%) isolated from children with ASD, 17/30 (56.7%) isolates from healthy subjects, and 12 of 32 (37.5%) isolates from obese subjects. C. perfringens strains with cpb2 gene were detected in 27/29 ASD patients (93.1%), 10/17 healthy subjects (58.8%) and 11/24 (45.8%) obese subjects. Beta2 toxin encoding cpb2 gene was significantly more common in strains isolated from ASD patients, with no significant difference between control subjects regardless of diet. Further research to explain observed phenomena and pathomechanism of beta2 toxin is required.
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2. Bell L, Oliver C, Wittkowski A, Moss J, Hare D. {{Attenuated behaviour in Cornelia de Lange and fragile X syndromes}}. {J Intellect Disabil Res}. 2018.
BACKGROUND: Catatonia-like presentations in people with autism have been increasingly recognised within research and diagnostic guidelines. The recently developed Attenuated Behaviour Questionnaire has identified that attenuated behaviour [autistic catatonia] is very prevalent in people with autism spectrum disorders (ASDs) and associated with repetitive behaviour. In the current study, we investigated attenuated behaviour within two genetic syndromes associated with ASD and examined ASD and repetitive behaviour as longitudinal predictors of attenuated behaviour. METHOD: The Attenuated Behaviour Questionnaire was completed by parents/carers of 33 individuals with Cornelia de Lange syndrome (CdLS) and 69 with fragile X syndrome (FXS). Information collected from the same informants 4 years previously was utilised to examine ASD and repetitive behaviour as predictors of later attenuated behaviour, controlling for age, gender and ability. RESULTS: Catatonia-like attenuated behaviour was reported for individuals with CdLS (30.3%) and FXS (11.6%). Slowed movement was more prevalent in people with CdLS. No other phenotypic differences were observed. Across the two groups, repetitive behaviour predicted the presence of attenuated behaviour 4 years later, after controlling for age, gender and ability. CONCLUSIONS: Attenuated behaviour can be identified in individuals with CdLS and FXS and may have an effect on both adaptive behaviour and quality of life. Repetitive behaviours predicted subsequent risk within both groups and should be assessed by services as part of a pro-active strategy of support.
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3. Chandradasa M, Williams S. {{High-functioning autism in a Sri Lankan youth with Langer-Giedion syndrome}}. {Psychiatric genetics}. 2018.
The trichorhinophalangeal syndrome is a rare genetic disorder with a classical clinical triad of sparse hair, bulbous nose, and short digits. There are three known phenotypes, and the type II with exostoses in long bones is known as Langer-Giedion syndrome. Here, we describe a 28-year-old Sri Lankan male with Langer-Giedion syndrome and high-functioning autism. The karyotype found a microdeletion of the long arm of chromosome 8 with mosaicism [46,XY/46,XY,del(8)(q24.1q24.3)]. This is probably the first report of Langer-Giedion Syndrome with autism and the first report of the genetic syndrome from Sri Lanka. Furthermore, we could only access one previous report of the same microdeletion, which was from an autopsy of a 36-week-old infant.
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4. Chang YC, Chen CH, Huang PC, Lin LY. {{Understanding the characteristics of friendship quality, activity participation, and emotional well-being in Taiwanese adolescents with autism spectrum disorder}}. {Scandinavian journal of occupational therapy}. 2018: 1-11.
BACKGROUND: Autism spectrum disorder (ASD) is a lifelong developmental disability characterized by deficits in social communication and social interaction across multiple contexts. Existing literature on social relationships and well-being among adolescents with ASD in Asian countries is scant. AIMS: This study compared the perceptions of adolescents with ASD with those of their neurotypical peers toward their friendship quality, activity participation, and emotional well-being, and examined the relationships between friendship quality, activity participation, and emotional well-being. METHODS: The study participants-101 adolescents with ASD and 101 neurotypical peers, aged 10-19 years-completed the following self-administered questionnaires: the Friendship Quality Questionnaire, the Child and Adolescent Scale of Participation, the Beck Anxiety Inventory, and the short-form UCLA loneliness scale. RESULTS: Adolescents with ASD reported lower friendship quality, lower school participation, and higher levels of anxiety and loneliness compared to their neurotypical peers. Loneliness correlated negatively with friendship quality and school participation and positively with anxiety. Adolescents with ASD experienced increased levels of anxiety when low friendship quality was accompanied by greater loneliness. CONCLUSIONS AND SIGNIFICANCE: These findings reveal that friendship quality, school participation, and loneliness have a considerable effect on the emotional well-being of adolescents with ASD, thus indicating the need for therapeutic interventions that address interpersonal relationships and emotional well-being.
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5. Doi H, Fujisawa TX, Iwanaga R, Matsuzaki J, Kawasaki C, Tochigi M, Sasaki T, Kato N, Shinohara K. {{Association between single nucleotide polymorphisms in estrogen receptor 1/2 genes and symptomatic severity of autism spectrum disorder}}. {Res Dev Disabil}. 2018.
BACKGROUND: Previous studies on etiology of autism spectrum disorders (ASD) have shown strong contribution of hereditary factors. On the basis the heterogeneity in ASD symptoms, it is highly possible that each independent domain of ASD symptom is linked to a different set of genetic risk factors. However, few empirical investigations have been carried out to examine this hypothesis. AIMS: The aim of the present study was to investigate the association between single-nucleotide polymorphisms (SNPs) in estrogen receptor genes, which several previous studies have identified as potential risk factors of ASD, and the severity of each independent aspect of ASD symptom within an Asian clinical sample. METHOD AND PROCEDURES: We investigated the association between severities of four ASD symptoms (Social Communication, Social Interaction, Stereotypies and Sensory Abnormalities, and Emotional Regulation) measured by childhood autism rating scale and SNPs in genes of estrogen receptor 1 and 2, ESR1 rs11155819 and ESR2 rs1152582, in 96 Japanese individuals with ASD. OUTCOMES AND RESULTS: The analysis revealed that severities in the impairment of social interaction and emotional regulation were linked to SNPs in ESR1 rs11155819 and ESR2 rs1152582, respectively. The effect of genotype was not observed for the other aspects of ASD symptoms. CONCLUSIONS AND IMPLICATIONS: These findings support our contention that the severity of each ASD symptom domain is determined by a distinct set of genetic risk factors.
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6. Francis K, Dougali A, Sideri K, Kroupis C, Vasdekis V, Dima K, Douzenis A. {{Brain-derived neurotrophic factor (BDNF) in children with ASD and their parents: a 3-year follow-up}}. {Acta Psychiatr Scand}. 2018.
OBJECTIVE: Several lines of evidence point to a probable relationship between brain-derived neurotrophic factor (BDNF) and autism spectrum disorder (ASD), but studies have yielded inconsistent findings on the BDNF serum level in ASD. The study aimed to assess those levels in children with ASD and their families. METHOD: BDNF serum levels were measured in 45 ASD children without intellectual disability (ID) and allergies, age 30-42 months and age-matched normal controls. BDNF serum levels in the parents of the ASD subjects were compared to normal controls. BDNF serum levels in the ASD subjects were followed up for 3 years and correlated with adaptive functioning changes. RESULTS: BDNF serum levels were measured to be lower in children with ASD and independent of all the major baseline characteristics of the subjects. Having a child with ASD raises the BDNF levels in parents comparing to controls. Prospectively, no correlation between the change of BDNF variables in time and the change of the Vineland scores was found. CONCLUSIONS: Our results contradict those from recent published meta-analyses with the age, the presence of ID and allergies being possible contributing factors. The parents’ data indeed point to a role of BDNF in the pathophysiology of ASD.
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7. Ghuman AS, van den Honert RN, Huppert TJ, Wallace GL, Martin A. {{Aberrant Oscillatory Synchrony Is Biased Toward Specific Frequencies and Processing Domains in the Autistic Brain}}. {Biol Psychiatry Cogn Neurosci Neuroimaging}. 2017; 2(3): 245-52.
BACKGROUND: Prevailing theories suggest that autism spectrum disorder (ASD) results from impaired brain communication, causing aberrant synchrony among neuronal populations. However, it remains debated whether synchrony abnormalities are among local or long-range circuits, are circuit specific or are generalized, reflect hypersynchrony or reflect hyposynchrony, and are frequency band-specific or are distributed across the frequency spectrum. METHODS: To help clarify these unresolved questions, we recorded spontaneous magnetoencephalography data and used a data-driven, whole-brain analysis of frequency-specific interregional synchrony in higher-functioning adolescents and adults, with 17 ASD and 18 control subjects matched on age, IQ, and sex, and equal for motion. RESULTS: Individuals with ASD showed local hypersynchrony in the theta band (4-7 Hz) in the lateral occipitotemporal cortex. Long-range hyposynchrony was seen in the alpha band (10-13 Hz), which was most prominent in neural circuitry underpinning social processing. The magnitude of this alpha band hyposynchrony was correlated with social symptom severity. CONCLUSIONS: These results suggest that although ASD is associated with both decreased long-range synchrony and increased posterior local synchrony, with each effect limited to a specific frequency band, impairments in social functioning may be most related to decreased alpha band synchronization between critical nodes of the social processing network.
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8. Juarez AP, Weitlauf AS, Nicholson A, Pasternak A, Broderick N, Hine J, Stainbrook JA, Warren Z. {{Early Identification of ASD Through Telemedicine: Potential Value for Underserved Populations}}. {J Autism Dev Disord}. 2018.
Increasing access to diagnostic services is crucial for identifying ASD in young children. We therefore evaluated a telemedicine assessment procedure. First, we compared telediagnostic accuracy to blinded gold-standard evaluations (n = 20). ASD cases identified via telemedicine were confirmed by in-person evaluation. However, 20% of children diagnosed with ASD in-person were not diagnosed via telemedicine. Second, we evaluated telediagnostic feasibility and acceptability in a rural catchment. Children (n = 45) and caregivers completed the telemedicine procedure and provided feedback. Families indicated high levels of satisfaction. Remote diagnostic clinicians diagnosed 62% of children with ASD, but did not feel capable of ruling-in or out ASD in 13% of cases. Findings support preliminary feasibility, accuracy, and clinical utility of telemedicine-based assessment of ASD for young children.
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9. Kent C, Cordier R, Joosten A, Wilkes-Gillan S, Bundy A. {{Peer-mediated intervention to improve play skills in children with autism spectrum disorder: A feasibility study}}. {Australian occupational therapy journal}. 2018.
BACKGROUND/AIM: Children with autism spectrum disorder (ASD) frequently demonstrate impaired play skills and poor quality social interactions compared to typically developing peers. Complex interventions to improve play skills should be investigated with randomised control trials (RCT) where possible to support evidence-based practice for occupational therapists. Prior to a RCT, multiple feasibility studies are recommended to identify barriers to the trial. The aim of this study is to adapt a complex intervention to improve play skills in children with ASD and investigate the feasibility of conducting a RCT. METHODS: Participants were 10 children with ASD paired with typically developing playmates chosen by their families. Pairs attended 10 intervention sessions involving video modelling, therapist- and peer-mediation and free play. Participant numbers needed for future investigation of effectiveness were calculated and time and cost considerations were reviewed. The Test of Playfulness (ToP) was the primary outcome measure; both parent- and child-report outcome measures were evaluated for appropriateness. RESULTS: To determine effectiveness of the intervention 34 pairs in both control and intervention groups will be needed to conduct a RCT over an 18-month timeframe. ToP scores showed a positive, but not statistically significant trend from pre- to post-intervention. These improvements were maintained at follow-up in both clinic and home environments. The Piers-Harris 2 and the Parent Relationship Questionnaire were identified as appropriate secondary outcome measures; additional parent- and teacher-report outcome measures are recommended for the RCT. CONCLUSION: A RCT to investigate effectiveness of this intervention for improving play skills of children with ASD and their playmates are feasible.
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10. Kramer JM, Helfrich C, Levin M, Hwang IT, Samuel PS, Carrellas A, Schwartz AE, Goeva A, Kolaczyk ED. {{Initial evaluation of the effects of an environmental-focused problem-solving intervention for transition-age young people with developmental disabilities: Project TEAM}}. {Dev Med Child Neurol}. 2018.
AIM: Project TEAM (Teens making Environment and Activity Modifications) teaches transition-age young people with developmental disabilities, including those with co-occurring intellectual or cognitive disabilities, to identify and resolve environmental barriers to participation. We examined its effects on young people’s attainment of participation goals, knowledge, problem-solving, self-determination, and self-efficacy. METHOD: We used a quasi-experimental, repeated measures design (initial, outcome, 6-week follow-up) with two groups: (1) Project TEAM (28 males, 19 females; mean age 17y 6mo); and (2) goal-setting comparison (21 males, 14 females; mean age 17y 6mo). A matched convenience sample was recruited in two US states. Attainment of participation goals and goal attainment scaling (GAS) T scores were compared at outcome. Differences between groups for all other outcomes were analyzed using linear mixed effects models. RESULTS: At outcome, Project TEAM participants demonstrated greater knowledge (estimated mean difference: 1.82; confidence interval [CI]: 0.90, 2.74) and ability to apply knowledge during participation (GAS: t[75]=4.21; CI: 5.21, 14.57) compared to goal-setting. While both groups achieved significant improvements in knowledge, problem-solving, and self-determination, increases in parent reported self-determination remained at 6-week follow-up only for Project TEAM (estimated mean difference: 4.65; CI: 1.32, 7.98). Significantly more Project TEAM participants attained their participation goals by follow-up (Project TEAM=97.6%, goal-setting=77.1%, p=0.009). INTERPRETATION: Both approaches support attainment of participation goals. Although inconclusive, Project TEAM may uniquely support young people with developmental disabilities to act in a self-determined manner and apply an environmental problem-solving approach over time. WHAT THIS PAPER ADDS: Individualized goal-setting, alone or during Project TEAM (Teens making Environment and Activity Modifications) appears to support attainment of participation goals. Project TEAM appears to support young people with developmental disabilities to apply an environmental problem-solving approach to participation barriers. Parents of young people with developmental disabilities report sustained changes in self-determination 6 weeks after Project TEAM.
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11. Lee J, Lee SH, Lee B, Yang IJ, Chang GT. {{A survey of Korean medicine doctors’ clinical practice patterns for autism spectrum disorder: preliminary research for clinical practice guidelines}}. {BMC complementary and alternative medicine}. 2018; 18(1): 90.
BACKGROUND: The aim of this study was to investigate autism spectrum disorder (ASD) clinical practice patterns of Korean medicine doctors (KMDs) through questionnaire survey. METHODS: Questionnaires on Korean medicine (KM) treatment for ASD were distributed to 255 KMDs on December 5, 2016. The KMDs were psychiatrists, pediatricians, or general practitioners, who treated patients with ASD. The questionnaire covered items on treatment methods, aims of treatment, KM syndrome differentiation, diagnostic tools, and sociodemographic characteristics. Frequency analysis was conducted to describe the participants and their practices. RESULTS: A total 22.4% KMDs (n = 57/255) completed the questionnaires and 54 KMDs (21.2%) matched the inclusion criteria. The KMDs utilized herbal medicine (27.3%), body acupuncture (17.6%), scalp acupuncture (10.7%), moxibustion (6.4%), and Korean medical psychotherapy (5.9%) to treat ASD. The most commonly prescribed herbal medicine was Yukmijihwang-tang. Forty-eight (88.9%) KMDs responded that they used KM syndrome differentiation. ‘Organ system, Qi, Blood, Yin, Yang, Fluid and Humor diagnosis’ was most frequently used for syndrome differentiation. ASD was mainly diagnosed based on the fourth edition of the Diagnostic and Statistical Manual for Mental Disorders (DSM-IV) and DSM-5. CONCLUSIONS: The present study demonstrated the current status of KMDs’ diagnosis and treatment of ASD. In future clinical trials and clinical practice guidelines, these findings will provide meaningful information on the actual practice patterns of KMDs.
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12. Lewis AS, van Schalkwyk GI, Lopez MO, Volkmar FR, Picciotto MR, Sukhodolsky DG. {{An Exploratory Trial of Transdermal Nicotine for Aggression and Irritability in Adults with Autism Spectrum Disorder}}. {J Autism Dev Disord}. 2018.
Nicotinic acetylcholine receptors (nAChRs), particularly the alpha7 nAChR, are implicated in the pathophysiology of both autism spectrum disorder (ASD) and aggressive behavior. We explored the feasibility, tolerability, and preliminary efficacy of targeting nAChRs using transdermal nicotine to reduce aggressive symptoms in adults with ASD. Eight subjects were randomized in a double-blind crossover trial of 7 mg transdermal nicotine or placebo, each for 1 week. All participants tolerated nicotine treatment well. Five subjects contributed data to the primary outcome, Aberrant Behavior Checklist-Irritability (ABC-I) subscale change from baseline, which was improved by nicotine compared to placebo. Sleep ratings were also improved by nicotine and correlated with ABC-I improvement. These findings support further investigation of nAChR agonists for aggression and sleep in ASD.
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13. Overweg J, Hartman CA, Hendriks P. {{Children with autism spectrum disorder show pronoun reversals in interpretation}}. {Journal of abnormal psychology}. 2018; 127(2): 228-38.
Pronoun reversals, saying you when meaning I, in children with autism spectrum disorder (ASD) are generally viewed as manifesting in early development and speech production only. This study investigates pronoun reversals in later development (age 6-12) in interpretation in 48 Dutch-speaking children with ASD and 43 typically developing (TD) peers. We contrasted children’s interpretation of I and you in indirect and direct speech reports, with the latter type requiring an additional perspective shift. To examine which cognitive processes are involved in pronoun interpretation, additional tasks were administered to measure Theory of Mind (ToM) understanding, cognitive inhibition, cognitive flexibility, and working memory. We found that children with ASD showed more problems than TD children interpreting pronouns in direct speech, resulting in pronoun reversals in interpretation. Children with ASD hardly improved with age. Older children with ASD thus showed more pronoun reversals than did their TD peers. ToM understanding, working memory, IQ, and verbal ability, but not inhibition and flexibility, were associated with pronoun interpretation. ToM understanding in particular was associated with correct pronoun interpretation in older TD children relative to younger TD children, but this improvement was not found in children with ASD. These findings indicate that pronoun reversals most likely result from perspective-shifting difficulties. We conclude that pronoun reversals are more pronounced in individuals with ASD, occur beyond early development, and require sufficient cognitive resources. The relation with ToM understanding, but not inhibition and flexibility, suggests that pronoun reversals are best classified as a social communication problem in the diagnosis of ASD. (PsycINFO Database Record
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14. Shtayermman O. {{Bernard Fleming, Elisabeth Hurley and The Goth: Choosing Autism Interventions: A Research-Based Guide : Pavilion Publishing and Media Ltd., Hove, UK, 2015, 356 pp., ISBN-13: 978-1910366769, $30.33 (paper)}}. {J Autism Dev Disord}. 2018.
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15. Thorup E, Nystrom P, Gredeback G, Bolte S, Falck-Ytter T. {{Reduced Alternating Gaze During Social Interaction in Infancy is Associated with Elevated Symptoms of Autism in Toddlerhood}}. {Journal of abnormal child psychology}. 2018.
In typical development, infants often alternate their gaze between their interaction partners and interesting stimuli, increasing the probability of joint attention toward surrounding objects and creating opportunities for communication and learning. Children with Autism Spectrum Disorder (ASD) have been found to engage less in behaviors that can initiate joint attention compared to typically developing children, but the role of such atypicalities in the development of ASD during infancy is not fully understood. Here, using eye tracking technology in a live setting, we show that 10-month-olds at high familial risk for ASD engage less in alternating gaze during interaction with an adult compared to low risk infants. These differences could not be explained by low general social preference or slow visual disengagement, as the groups performed similarly in these respects. We also found that less alternating gaze at 10 months was associated with more social ASD symptoms and less showing and pointing at 18 months. These relations were similar in both the high risk and the low risk groups, and remained when controlling for general social preference and disengagement latencies. This study shows that atypicalities in alternating gaze in infants at high risk for ASD emerge already during the first 10 months of life – a finding with theoretical as well as potential practical implications.
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16. Warrier V, Toro R, Chakrabarti B, Borglum AD, Grove J, Hinds DA, Bourgeron T, Baron-Cohen S. {{Genome-wide analyses of self-reported empathy: correlations with autism, schizophrenia, and anorexia nervosa}}. {Translational psychiatry}. 2018; 8(1): 35.
Empathy is the ability to recognize and respond to the emotional states of other individuals. It is an important psychological process that facilitates navigating social interactions and maintaining relationships, which are important for well-being. Several psychological studies have identified difficulties in both self-report and performance-based measures of empathy in a range of psychiatric conditions. To date, no study has systematically investigated the genetic architecture of empathy using genome-wide association studies (GWAS). Here we report the results of the largest GWAS of empathy to date using a well-validated self-report measure of empathy, the Empathy Quotient (EQ), in 46,861 research participants from 23andMe, Inc. We identify 11 suggestive loci (P < 1 x 10(-6)), though none were significant at P < 2.5 x 10(-8) after correcting for multiple testing. The most significant SNP was identified in the non-stratified analysis (rs4882760; P = 4.29 x 10(-8)), and is an intronic SNP in TMEM132C. The EQ had a modest but significant narrow-sense heritability (0.11 +/- 0.014; P = 1.7 x 10(-14)). As predicted, based on earlier work, we confirmed a significant female advantage on the EQ (P < 2 x 10(-16), Cohen's d = 0.65). We identified similar SNP heritability and high genetic correlation between the sexes. Also, as predicted, we identified a significant negative genetic correlation between autism and the EQ (rg = -0.27 +/- 0.07, P = 1.63 x 10(-4)). We also identified a significant positive genetic correlation between the EQ and risk for schizophrenia (rg = 0.19 +/- 0.04; P = 1.36 x 10(-5)), risk for anorexia nervosa (rg = 0.32 +/- 0.09; P = 6 x 10(-4)), and extraversion (rg = 0.45 +/- 0.08; 5.7 x 10(-8)). This is the first GWAS of self-reported empathy. The results suggest that the genetic variations associated with empathy also play a role in psychiatric conditions and psychological traits. Lien vers le texte intégral (Open Access ou abonnement)
