1. Barendse EM, Hendriks MPH, Thoonen G, Aldenkamp AP, Kessels RPC. {{Social behaviour and social cognition in high-functioning adolescents with autism spectrum disorder (ASD): two sides of the same coin?}}. {Cognitive processing}. 2018.
Of the triad of symptoms found in autism spectrum disorder (ASD), that is, social impairments, communication difficulties and repetitive interests and behaviour, the social impairments are the most stable and common throughout the lifespan. They typically manifest themselves in abnormalities as reciprocal interactions and difficulties in the expression and recognition of emotions. Although peer interactions become especially important during adolescence, little is known about the mentalizing abilities of high-functioning adolescents with ASD. Here, we compared the mentalizing skills and emotion recognition abilities of 21 high-functioning adolescents with ASD and 21 matched controls. All adolescents had estimated above-average verbal intelligence levels. Spontaneous social abilities and task-related social abilities were measured using questionnaires, tasks and the Autism Diagnostic Observation Schedule. Results confirm social impairment in daily life situations in adolescents with ASD, but were not found on experimental tasks of social cognition. The use of more explicit cognitive or verbally mediating reasoning techniques and a lesser tendency of high-functioning adolescents with ASD to search for and use social information in natural environments are further discussed.
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2. Benger M, Kinali M, Mazarakis ND. {{Autism spectrum disorder: prospects for treatment using gene therapy}}. {Mol Autism}. 2018; 9: 39.
Autism spectrum disorder (ASD) is characterised by the concomitant occurrence of impaired social interaction; restricted, perseverative and stereotypical behaviour; and abnormal communication skills. Recent epidemiological studies have reported a dramatic increase in the prevalence of ASD with as many as 1 in every 59 children being diagnosed with ASD. The fact that ASD appears to be principally genetically driven, and may be reversible postnatally, has raised the exciting possibility of using gene therapy as a disease-modifying treatment. Such therapies have already started to seriously impact on human disease and particularly monogenic disorders (e.g. metachromatic leukodystrophy, SMA type 1). In regard to ASD, technical advances in both our capacity to model the disorder in animals and also our ability to deliver genes to the central nervous system (CNS) have led to the first preclinical studies in monogenic ASD, involving both gene replacement and silencing. Furthermore, our increasing awareness and understanding of common dysregulated pathways in ASD have broadened gene therapy’s potential scope to include various polygenic ASDs. As this review highlights, despite a number of outstanding challenges, gene therapy has excellent potential to address cognitive dysfunction in ASD.
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3. Benich S, Thakur S, Schubart JR, Carr MM. {{Parental Perception of the Perioperative Experience for Children With Autism}}. {AORN journal}. 2018; 108(1): 34-43.
Children with autism spectrum disorders (ASDs) face unique challenges when preparing for and undergoing surgery in the perioperative setting. Our goal was to describe this experience via the qualitative evaluation of interviews with parents whose children with ASD had recently undergone surgery in a tertiary medical center. Twelve parents or guardians participated in these interviews. Two independent researchers recorded interviews and analyzed transcripts. The researchers analyzed the interview transcripts using qualitative software to determine the categories of frequent answers to interview questions. Important categories that emerged included behavioral triggers (ie, response to sounds, expression of anxiety and pain), objects used for comfort, communication issues, important people, and advice. We found that children with ASD have specific and unique needs for reassurance and comfort during a perioperative visit. We created a tool, included in this article, to provide a patient-centered framework for interactions with children with ASD in the perioperative environment.
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4. Chien YL, Chou MC, Chou WJ, Wu YY, Tsai WC, Chiu YN, Gau SS. {{Prenatal and perinatal risk factors and the clinical implications on autism spectrum disorder}}. {Autism}. 2018: 1362361318772813.
Prenatal and perinatal factors may increase the risk of autism spectrum disorder. However, little is known about whether unaffected siblings of probands with autism spectrum disorder also share the phenomenon and whether the prenatal/perinatal factors are related to the clinical severity of autistic symptoms. We compared the frequency of prenatal and perinatal factors among 323 probands with autism spectrum disorder (mean age +/- standard deviation, 10.7 +/- 3.5 years; males, 91.0%), 257 unaffected siblings (11.7 +/- 4.5; 42.8%), and 1504 typically developing controls (8.9 +/- 1.6 years; 53.1%); and investigated their effects on the severity of autistic symptoms. We found that probands with autism spectrum disorder and their unaffected siblings had more prenatal/perinatal events than typically developing controls with higher numbers of prenatal/perinatal factors in probands than in unaffected siblings. The prenatal/perinatal events were associated with greater stereotyped behaviors, social-emotional problems, socio-communication deficits, and overall severity. We also found that six prenatal/perinatal factors (i.e. preeclampsia, polyhydramnios, oligoamnios, placenta previa, umbilical cord knot, and gestational diabetes) were associated with the severity of autistic symptoms, particularly stereotyped behaviors and socio-communication deficits. Our findings suggest that prenatal and perinatal factors may potentially moderate the clinical expression of autism spectrum disorder. The underlying mechanism warrants further research.
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5. Delion P, Labreuche J, Deplanque D, Cohen D, Duhamel A, Lallie C, Ravary M, Goeb JL, Medjkane F, Xavier J. {{Therapeutic body wraps (TBW) for treatment of severe injurious behaviour in children with autism spectrum disorder (ASD): A 3-month randomized controlled feasibility study}}. {PLoS One}. 2018; 13(6): e0198726.
INTRODUCTION: The use of therapeutic body wraps (TBW) has been reported in small series or case reports, but has become controversial. OBJECTIVES: This is a feasibility, multicentre, randomized, controlled, open-label trial with blinded outcome assessment (PROBE design). SETTING: Children with autism and severe-injurious behaviours (SIB) were enrolled from 13 specialized clinics. INTERVENTIONS: Dry-sheet TBW (DRY group) vs. wet-sheet TBW (WET group). PRIMARY OUTCOME MEASURES: 3-month change in the Aberrant Behaviour Checklist irritability score (ABC-irritability) within per-protocol (PP) sample. RESULTS: From January 2008 to January 2015, we recruited 48 children (age range: 5.9 to 9.9 years, 78.1% male). Seven patients (4 in the DRY group, 3 in the WET group) were dropped from the study early and were excluded from PP analysis. At endpoint, ABC-irritability significantly improved in both groups (means (standard deviation) = -11.15 (8.05) in the DRY group and -10.57 (9.29) in the WET group), as did the other ABC scores and the Children Autism Rating scale score. However, there was no significant difference between groups. All but 5 patients were rated as much or very much improved. A repeated-measures analysis confirmed the significant improvement in ABC-irritability scores according to time (p < .0001), with no significant difference between the two groups (group effect: p = .55; interaction time x group: p = .27). Pooling both groups together, the mean 3-month change from baseline in ABC-irritability score was -10.90 (effect size = 1.59, p < .0001). CONCLUSIONS: We found that feasibility was overall satisfactory with a slow recruitment rate and a rather good attrition rate. TBW was a safe complementary therapy in this population. There was no difference between wet and dry TBW at 3 months, and ABC-irritability significantly decreased with both wet and dry sheet TBW. To assess whether TBW may constitute an alternative to medication or behavioural intervention for treating SIB in ASD patients, a larger randomized comparative trial (e.g. TBW vs. antipsychotics) is warranted. TRIAL REGISTRATION: ClinicalTrials.gov NCT03164746. Lien vers le texte intégral (Open Access ou abonnement)
6. Germain E, Foster NEV, Sharda M, Chowdhury R, Tryfon A, Doyle-Thomas KAR, Anagnostou E, Hyde KL. {{Pitch direction ability predicts melodic perception in autism}}. {Child Neuropsychol}. 2018: 1-21.
Individuals with autism spectrum disorders (ASDs) often present atypical auditory perception. Previous work has reported both enhanced low-level pitch discrimination and superior abilities to detect local pitch structure on higher-level melodic tasks in ASD. However, it is unclear how low and high levels of auditory perception are related in ASD or typical development (TD), or how this relationship might change across development and stimulus presentation rates. To these aims, in the present study, children with ASD and TD were tested on a low-level pitch direction discrimination task and a high-level melodic global-local task. Groups performed similarly on both of these auditory tasks. Moreover, individual differences in low-level pitch direction ability predicted performance on the higher-level global-local task, with a stronger relationship in ASD. Age did not affect the relationship between low-level and high-level pitch performance in either ASD or TD. However, there was a more positive effect of age on the high-level global-local task performance in TD than ASD. Finally, there was no effect of stimulus rate on the relationship between low-level and high-level pitch performance in either group. These findings provide a better understanding of how perception is associated across levels of processing in ASD versus TD. This work helps to better understand individual differences in auditory perception and to refine ASD phenotypes.
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7. Hall DA, Hagerman RJ. {{Fragile X-Associated Tremor/Ataxia Syndrome: Unmet Needs and a Path for the Future}}. {Front Genet}. 2018; 9: 100.
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8. Hoekstra RA, Girma F, Tekola B, Yenus Z. {{Nothing about us without us: the importance of local collaboration and engagement in the global study of autism}}. {BJPsych international}. 2018; 15(2): 40-3.
Our current understanding of autism and other developmental disorders is primarily based on research conducted in high-income countries, predominantly in North America and Europe. Even within high-income countries, White participants are overrepresented in autism research. There is now increased recognition that a more global and diverse research representation is warranted. This paper argues that in order for global and diverse research efforts to be effective, it is essential to collaborate and engage with local experts and stakeholders, including local researchers, clinicians and representatives from governmental and non-governmental organisations. Such collaborations ensure that studies use culturally appropriate methods and materials, and that research findings are interpreted taking local context into account. Ultimately, these collaborations build local capacity and foster the development of culturally and contextually appropriate interventions that address locally perceived needs. The adage ‘nothing about us without us’ is vital to global autism research.
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9. Hongkaew Y, Medhasi S, Pasomsub E, Ngamsamut N, Puangpetch A, Vanwong N, Chamnanphon M, Limsila P, Suthisisang C, Wilffert B, Sukasem C. {{UGT1A1 polymorphisms associated with prolactin response in risperidone-treated children and adolescents with autism spectrum disorder}}. {The pharmacogenomics journal}. 2018.
The aim of this study was to investigate the association of drug-metabolizing enzyme and transporter (DMET) polymorphisms with the risperidone-induced prolactin response using an overlapping gene model between serum prolactin level and hyperprolactinemia in autism spectrum disorder (ASD) patients. Eighty-four ASD patients who were receiving risperidone for at least 1 month were recruited and then assigned to either the normal prolactin group or the hyperprolactinemia group based on their serum prolactin level. The genotype profile of 1936 (1931 single nucleotide polymorphisms (SNPs) and 5 copy number variation (CNVs) drug metabolism markers was obtained using the Affymetrix DMET Plus GeneChip microarray platform. Genotypes of SNPs used to test the accuracy of DMET genotype profiling were determined using TaqMan SNP Genotyping Assay kits. Eighty-four patients were selected for the allelic association study after microarray analyses (51 in the normal prolactin group, and 33 in the hyperprolactinemia group). An overlapping allelic association analysis of both analyses discovered five DMET SNPs with a suggestive association (P < 0.05) with risperidone-induced prolactin response. Three UGT1A1 SNPs (UGT1A1*80c.-364C > T, UGT1A1*93 c.-3156G > A, and UGT1A1 c.-2950A > G, showed a suggestive association with the risperidone-induced prolactin response and found to be in complete linkage disequilibrium (D’ value of 1). In this DMET microarray platform, we found three UGT1A1 variants with suggestive evidences of association with the risperidone-induced prolactin response both measured by hyperprolactinemia and by prolactin level. However, due to the lack of validation studies confirmation and further exploration are needed in future pharmacogenomic studies.
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10. Iyer J, Singh MD, Jensen M, Patel P, Pizzo L, Huber E, Koerselman H, Weiner AT, Lepanto P, Vadodaria K, Kubina A, Wang Q, Talbert A, Yennawar S, Badano J, Manak JR, Rolls MM, Krishnan A, Girirajan S. {{Pervasive genetic interactions modulate neurodevelopmental defects of the autism-associated 16p11.2 deletion in Drosophila melanogaster}}. {Nat Commun}. 2018; 9(1): 2548.
As opposed to syndromic CNVs caused by single genes, extensive phenotypic heterogeneity in variably-expressive CNVs complicates disease gene discovery and functional evaluation. Here, we propose a complex interaction model for pathogenicity of the autism-associated 16p11.2 deletion, where CNV genes interact with each other in conserved pathways to modulate expression of the phenotype. Using multiple quantitative methods in Drosophila RNAi lines, we identify a range of neurodevelopmental phenotypes for knockdown of individual 16p11.2 homologs in different tissues. We test 565 pairwise knockdowns in the developing eye, and identify 24 interactions between pairs of 16p11.2 homologs and 46 interactions between 16p11.2 homologs and neurodevelopmental genes that suppress or enhance cell proliferation phenotypes compared to one-hit knockdowns. These interactions within cell proliferation pathways are also enriched in a human brain-specific network, providing translational relevance in humans. Our study indicates a role for pervasive genetic interactions within CNVs towards cellular and developmental phenotypes.
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11. Kay RB, Gabreski NA, Triplett JW. {{Visual subcircuit-specific dysfunction and input-specific mispatterning in the superior colliculus of fragile X mice}}. {J Neurodev Disord}. 2018; 10(1): 23.
BACKGROUND: Sensory processing deficits are frequently co-morbid with neurodevelopmental disorders. For example, patients with fragile X syndrome (FXS), caused by a silencing of the FMR1 gene, exhibit impairments in visual function specific to the dorsal system, which processes motion information. However, the developmental and circuit mechanisms underlying this deficit remain unclear. Recently, the superior colliculus (SC), a midbrain structure regulating head and eye movements, has emerged as a model for dissecting visual circuit development and function. Previous studies have demonstrated a critical role for activity-dependent processes in the development of visual circuitry in the SC. Based on the known role of the FMR1 gene product in activity-dependent synaptic plasticity, we explored the function and organization of visual circuits in the SC of a mouse model of FXS (Fmr1(-/y)). METHODS: We utilized in vivo extracellular electrophysiology in combination with computer-controlled visual stimuli to determine the receptive field properties of visual neurons in the SC of control and Fmr1(-/y) mice. In addition, we utilized anatomical tracing methods to assess the organization of visual inputs to the SC and along the retinogeniculocortical pathway. RESULTS: Receptive fields of visual neurons in the SC of Fmr1(-/y) mice were significantly larger than those found in control animals, though their shape and structure were unaffected. Further, selectivity for direction of movement was decreased, while selectivity to axis of movement was unchanged. Interestingly, axis-selective (AS) neurons exhibited a specific hyperexcitability in comparison to AS neurons in control SC and to direction-selective (DS) neurons in both control and Fmr1(-/y) SC. Anatomical tracings revealed that retinocollicular, retinogeniculate, and geniculocortical projections were normally organized in the absence of Fmr1. However, projections from primary visual cortex (V1) to the SC were poorly refined. CONCLUSIONS: Fmr1 is required for the proper development of visual circuit organization and function in the SC. We find that visual dysfunction is heterogeneously manifested in a subcircuit-specific manner in Fmr1(-/y) mice, consistent with previous studies in human FXS patients. Further, we show a specific alteration of inputs to the SC from V1, but not the retina. Together, these data suggest that Fmr1 may function in distinct ways during the development of different visual subcircuits.
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12. Leisman G, Machado C, Machado Y, Chinchilla-Acosta M. {{Effects of Low-Level Laser Therapy in Autism Spectrum Disorder}}. {Advances in experimental medicine and biology}. 2018.
The study examined the efficacy of low-level laser therapy, a form of photobiomodulation, for the treatment of irritability associated with autistic spectrum disorder in children and adolescents aged 5-17 years. Twenty-one of the 40 participants received eight 5-min procedures administered to the base of the skull and temporal areas across a 4-week period (test, i.e., active treatment participants). All the participants were evaluated with the Aberrant Behavior Checklist (ABC), with the global scale and five subscales (irritability/agitation, lethargy/social withdrawal, stereotypic behavior, hyperactivity/noncompliance, and inappropriate speech), and the Clinical Global Impressions (CGI) Scale including a severity-of-illness scale (CGI-S) and a global improvement/change scale (CGI-C). The evaluation took place at baseline, week 2 (interim), week 4 (endpoint), and week 8 (post-procedure) of the study. The adjusted mean difference in the baseline to study endpoint change in the ABC irritability subscale score between test and placebo participants was -15.17 in favor of the test procedure group. ANCOVA analysis found this difference to be statistically significant (F = 99.34, p < 0.0001) compared to the baseline ABC irritability subscale score. The study found that low-level laser therapy could be an effective tool for reducing irritability and other symptoms and behaviors associated with the autistic spectrum disorder in children and adolescents, with positive changes maintained and augmented over time. Lien vers le texte intégral (Open Access ou abonnement)
13. Li Y, Stockton ME, Eisinger BE, Zhao Y, Miller JL, Bhuiyan I, Gao Y, Wu Z, Peng J, Zhao X. {{Reducing histone acetylation rescues cognitive deficits in a mouse model of Fragile X syndrome}}. {Nat Commun}. 2018; 9(1): 2494.
Fragile X syndrome (FXS) is the most prevalent inherited intellectual disability, resulting from a loss of fragile X mental retardation protein (FMRP). Patients with FXS suffer lifelong cognitive disabilities, but the function of FMRP in the adult brain and the mechanism underlying age-related cognitive decline in FXS is not fully understood. Here, we report that a loss of FMRP results in increased protein synthesis of histone acetyltransferase EP300 and ubiquitination-mediated degradation of histone deacetylase HDAC1 in adult hippocampal neural stem cells (NSCs). Consequently, FMRP-deficient NSCs exhibit elevated histone acetylation and age-related NSC depletion, leading to cognitive impairment in mature adult mice. Reducing histone acetylation rescues both neurogenesis and cognitive deficits in mature adult FMRP-deficient mice. Our work reveals a role for FMRP and histone acetylation in cognition and presents a potential novel therapeutic strategy for treating adult FXS patients.
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14. Malhi P, Kaur A, Singhi P, Sankhyan N. {{Sleep Dysfunction and Behavioral Daytime Problems in Children with Autism Spectrum Disorders: A Comparative Study}}. {Indian journal of pediatrics}. 2018.
OBJECTIVES: To compare parent reported sleep behaviors of children with Autism Spectrum Disorders (ASD) and normal healthy controls and to examine the association of sleep disturbances with daytime behavioral difficulties in children with ASD. METHODS: Sixty ASD children (85% boys) (Mean age=6.1 y, SD=2.4) were recruited from the Psychology unit of the Department of Pediatrics of a tertiary care hospital. An age and socio-economic status matched group of typically developing (TD) children (N=60) were also recruited. The Children’s Sleep Habits Questionnaire (CSHQ) was used to measure sleep problems. The Childhood Psychopathology Measurement Schedule was used to measure day time behavioral difficulties. RESULTS: Sleep problems were nearly two times more prevalent among children with ASD (88.3%) as compared to the TD group (46.7%) (chi(2)=23.74, P=0.0001). The total CSHQ and 6 out of the 8 subscales scores of the ASD group were also significantly higher than the TD group. Overall, children with ASD displayed significant more bedtime resistance than controls (t= 3.95, P=0.001). The sleep duration subscale showed that children with ASD, relative to the TD group, slept too little (chi(2)=23.08, P=0.0001), did not sleep the right amount of time (chi(2)= 11.86, P=0.003), and displayed significant variation in the duration of time slept (chi(2)=11.96, P=0.003). In addition, parent reported sleep dysfunction had a significant relationship with daytime reported behavior difficulties (r=0.53, P=0.01) in children with ASD. Stepwise multiple regression analysis revealed that 30% of the variance in number of daytime behavioral problems was explained by only two variables: total CSHQ scores and duration of night awake time (F=11.18, P=0.001). CONCLUSIONS: Children with ASD are at a high risk for sleep problems and this is associated with daytime behavior disturbances. Pediatricians should routinely screen ASD children for sleep problems and initiate timely and appropriate interventions.
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15. Mastrominico A, Fuchs T, Manders E, Steffinger L, Hirjak D, Sieber M, Thomas E, Holzinger A, Konrad A, Bopp N, Koch SC. {{Effects of Dance Movement Therapy on Adult Patients with Autism Spectrum Disorder: A Randomized Controlled Trial}}. {Behav Sci (Basel)}. 2018; 8(7).
This study examines the effects of dance movement therapy (DMT) on empathy for adults with autism spectrum disorder (ASD). DMT based on the embodiment approach offers body-centered interventions, such as mirroring techniques, to address the needs of ASD patients. Accordingly, findings of a feasibility study suggest that DMT may be an effective approach for clients on the ASD spectrum. The present study is a randomized controlled trial that was conducted as a multicenter study within the framework of the EU-funded research project TESIS (Toward an Embodied Science of Intersubjectivity), and employed a two-factorial between-subject design. The treatment group (n = 35) participated in a 10-week manualized DMT intervention, whereas the control group (n = 22) received treatment only after a waiting period. Empathy, measured with the Cognitive and Emotional Empathy Questionnaire (CEEQ), was the main variable of interest, analyzed by a repeated measures analysis of variance. In order to also include incomplete data cases, we used the expectation-maximization algorithm for missing data estimation. Results suggest no significant changes in overall empathy between groups. We discuss the results and limitations, as well as future research options.
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16. Noonan H, I OD, Wilson C. {{Engaging with and navigating limbo: Lived experiences of siblings of adults with autism spectrum disorders}}. {J Appl Res Intellect Disabil}. 2018.
BACKGROUND: Supporting an adult with autism spectrum disorder (ASD) can be associated with family stress but also with personal growth and resilience. Research providing insight into how typically developing siblings make sense of their unique sibling relationships in adulthood remains limited. METHOD: Using interpretative phenomenological analysis, this study explored subjective experiences of eight siblings of adults with ASD and co-occurring intellectual disability. RESULTS: Analysis of interview transcripts revealed a complex lived experience explained by the overarching theme « engaging with and navigating limbo », which was characterized by commitment to the sibling relationship, power tensions in the family, uncertainty about the future and negotiating the tension between relational closeness and distance. CONCLUSION: Using family systems theory, overregulation and closed communication emerged as processes relevant to families living with ASD. Clinical opportunities to support family communication, change tolerance and belonging are discussed.
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17. Ocak E, Eshraghi RS, Danesh A, Mittal R, Eshraghi AA. {{Central Auditory Processing Disorders in Individuals with Autism Spectrum Disorders}}. {Balkan medical journal}. 2018.
The etiology and underlying pathogenetic mechanisms in autism spectrum disorder (ASD) are still largely unknown. In this manuscript, a comprehensive review of the studies which are relevant to ASD and CAPD is conducted and the relationship of ASD and central auditory processing disorders (CAPD) is discussed in the light of recent studies on this subject that may provide new paths in the therapeutical perspective. Many studies confirm that most of the individuals with ASD have some degree of sensory dysfunction related to disorders of processing auditory, visual, vestibular and/or tactile stimuli. Among these, some recent studies addressed CAPD. There is an increasing amount of effort for researches about the link between ASD and CAPD. Most of the studies investigating CAPD in patients with ASD use electrophysiological measurements such as mismatch negativity or P300 event related potentials. Besides these, many publications reported deterioration in speech perception and expression in ASD patients which may also be related with CAPD in this unique group of individuals.
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18. Schwichtenberg AJ, Kellerman AM, Young GS, Miller M, Ozonoff S. {{Mothers of children with autism spectrum disorders: Play behaviors with infant siblings and social responsiveness}}. {Autism}. 2018: 1362361318782220.
Mother-infant interactions are a proximal process in early development and may be especially salient for children who are at risk for social difficulties (i.e. infant siblings of children with autism spectrum disorder). To inform how indices of maternal behaviors may improve parent-mediated interventions designed to mitigate autism spectrum disorder risk, the present study explored maternal social responsiveness ratings and social behaviors during dyadic play interactions. Dyads were recruited from families with at least one older child with autism spectrum disorder (high-risk group, n = 90) or families with no history of autism spectrum disorder (low-risk group, n = 62). As part of a prospective study, interactions were coded when infant siblings were 6, 9, and 12 months of age, for gaze, affect, vocalizations, and multimodal bids or responses (i.e. social smiles). Maternal social responsiveness was indexed via the Social Responsiveness Scale. Mothers in both risk groups had comparable Social Responsiveness Scale scores and social behaviors during play. Two maternal behaviors emerged as positive correlates of infant social behaviors and are thus of high relevance to parent-mediated interventions. Specifically, more maternal positive affect and the use of multimodal bids or responses were associated with more infant positive affect, vocalizations, gaze to face, and multimodal bids or responses.
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19. Whitehouse AJO, Alvares GA, Cleary D, Harun A, Stojanoska A, Taylor LJ, Varcin KJ, Maybery M. {{Symptom severity in autism spectrum disorder is related to the frequency and severity of nausea and vomiting during pregnancy: a retrospective case-control study}}. {Mol Autism}. 2018; 9: 37.
Background: Nausea and vomiting during pregnancy (NVP) is thought to be caused by changes in maternal hormones during pregnancy. Differences in hormone exposure during prenatal life have been implicated in the causal pathways for some cases of autism spectrum disorder (ASD). However, no study has investigated whether the presence and severity of NVP may be related to symptom severity in offspring with ASD. Methods: A large sample of children with ASD (227 males and 60 females, aged 2 to 18 years) received a clinical assessment, during which parents completed questionnaires regarding their child’s social (Social Responsiveness Scale, SRS) and communication (Children’s Communication Checklist-2nd edition, CCC-2) symptoms. Parents also reported on a 5-point scale the frequency and severity of NVPs during the pregnancy of the child being assessed: (1) no NVP during the pregnancy, (2) occasional nausea, but no vomiting, (3) daily nausea, but no vomiting, (4) occasional vomiting, with or without nausea, and (5) daily nausea and vomiting. Results: Impairments in social responsiveness in offspring, as indexed by SRS total score, significantly increased as a function of the frequency and severity of their mothers’ NVP, as did the level of language difficulties as indexed by the Global Communication Composite of the CCC-2. Conclusions: The strong, positive association between increasing frequency and severity of NVP and ASD severity in offspring provides further evidence that exposure to an atypical hormonal environment during prenatal life may affect neurodevelopment and contribute to the ASD phenotype. Given that the measure of NVP symptoms in the current study was based on retrospective recall, replication of this finding is required before strong conclusions can be drawn.
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20. Yamasue H, Okada T, Munesue T, Kuroda M, Fujioka T, Uno Y, Matsumoto K, Kuwabara H, Mori D, Okamoto Y, Yoshimura Y, Kawakubo Y, Arioka Y, Kojima M, Yuhi T, Owada K, Yassin W, Kushima I, Benner S, Ogawa N, Eriguchi Y, Kawano N, Uemura Y, Yamamoto M, Kano Y, Kasai K, Higashida H, Ozaki N, Kosaka H. {{Effect of intranasal oxytocin on the core social symptoms of autism spectrum disorder: a randomized clinical trial}}. {Mol Psychiatry}. 2018.
Although small-scale studies have described the effects of oxytocin on social deficits in autism spectrum disorder (ASD), no large-scale study has been conducted. In this randomized, parallel-group, multicenter, placebo-controlled, double-blind trial in Japan, 106 ASD individuals (18-48 y.o.) were enrolled between Jan 2015 and March 2016. Participants were randomly assigned to a 6-week intranasal oxytocin (48IU/day, n = 53) or placebo (n = 53) group. One-hundred-three participants were analyzed. Since oxytocin reduced the primary endpoint, Autism Diagnostic Observation Schedule (ADOS) reciprocity, (from 8.5 to 7.7; P < .001) but placebo also reduced the score (8.3 to 7.2; P < .001), no between-group difference was found (effect size -0.08; 95% CI, -0.46 to 0.31; P = .69); however, plasma oxytocin was only elevated from baseline to endpoint in the oxytocin-group compared with the placebo-group (effect size -1.12; -1.53 to -0.70; P < .0001). Among the secondary endpoints, oxytocin reduced ADOS repetitive behavior (2.0 to 1.5; P < .0001) compared with placebo (2.0 to 1.8; P = .43) (effect size 0.44; 0.05 to 0.83; P = .026). In addition, the duration of gaze fixation on socially relevant regions, another secondary endpoint, was increased by oxytocin (41.2 to 52.3; P = .03) compared with placebo (45.7 to 40.4; P = .25) (effect size 0.55; 0.10 to 1.0; P = .018). No significant effects were observed for the other secondary endpoints. No significant difference in the prevalence of adverse events was observed between groups, although one participant experienced temporary gynecomastia during oxytocin administration. Based on the present findings, we cannot recommend continuous intranasal oxytocin treatment alone at the current dose and duration for treatment of the core social symptoms of high-functioning ASD in adult men, although this large-scale trial suggests oxytocin's possibility to treat ASD repetitive behavior. Lien vers le texte intégral (Open Access ou abonnement)
