1. Cai Q, Feng L, Yap KZ. {{Systematic Review and Meta-Analysis of Reported Adverse Events of Long-term Intranasal Oxytocin Treatment for Autism Spectrum Disorder}}. {Psychiatry Clin Neurosci};2017 (Dec 12)
Recent studies suggested oxytocin as a possible drug to treat social deficits caused by Autism Spectrum Disorder (ASD), but the safety of intranasal oxytocin in autistic patients is not established. The aim of this review was to characterise the side effect profile of long-term intranasal oxytocin in treatment of ASD compared to placebo. All randomised controlled trials of intranasal oxytocin in the treatment of ASD published before 1 January 2017 that reported safety data were identified from databases including Pubmed, Embase, Cochrane Library, and International Pharmaceutical Abstract. Relevant data from the selected studies were then extracted for meta-analysis to estimate the pooled risk ratio for the most common adverse events. Descriptive analysis of severe adverse events was also conducted. Of the 223 participants in the five included studies, 123 were given oxytocin and 100 given placebos. Nasal discomfort (14.3%), tiredness (7.2%), irritability (9.0%), diarrhoea (4.5%), and skin irritation (4.5%) were the most common adverse events. None of these common adverse events was statistically associated with treatment allocation according to meta-analysis using pooled data (all p-values > 0.1). Five severe adverse events were reported, namely aggression (one in placebo, two in oxytocin) and seizures (one in placebo, one in oxytocin). Results from this systematic review supports intranasal oxytocin to be well tolerated and safe for use in ASD population. Larger clinical trials should be conducted to establish the efficacy of intranasal oxytocin as a treatment of ASD.
Lien vers le texte intégral (Open Access ou abonnement)
2. Dieleman LM, De Pauw SSW, Soenens B, Mabbe E, Campbell R, Prinzie P. {{Relations between problem behaviors, perceived symptom severity and parenting in adolescents and emerging adults with ASD: The mediating role of parental psychological need frustration}}. {Res Dev Disabil};2017 (Dec 12);73:21-30.
Research in parents of youngsters with Autism Spectrum Disorder (ASD) increasingly documents associations between children’s problem behaviors and symptom severity and more dysfunctional and less adaptive parenting behaviors. However, the mechanisms underlying these associations have not been examined thoroughly. This study examines the mediating role of parental need frustration in the relation between child maladjustment (i.e., problem behavior and autism severity) and parenting behavior (i.e., controlling and autonomy-supportive parenting). The sample included 95 parents of adolescents/emerging adults with ASD (Mage=18.8years, SD=2.3). Parents completed questionnaires assessing their parenting strategies and psychological need frustration as well as the internalizing and externalizing problem behaviors and autism severity of their child. Results indicate that the association between externalizing problems and controlling parenting was partially mediated by need frustration. This suggests that externalizing problems go together with lower feelings of parent-child closeness, lower parental competence, and a decreased sense of volitional functioning, feelings that, in turn, relate to more controlling strategies. Symptom severity has a direct negative association with autonomy support, suggesting that parents lower their autonomy support when their child has high levels of autism symptoms, without experiencing these symptoms as a threat to their own psychological needs.
Lien vers le texte intégral (Open Access ou abonnement)
3. Elliott AB, Holley AL, Ross AC, Soleta AO, Koh JL. {{A prospective study comparing perioperative anxiety and posthospital behavior in children with autism spectrum disorder vs typically developing children undergoing outpatient surgery}}. {Paediatr Anaesth};2017 (Dec 10)
BACKGROUND: Research describing the experience of youth with autism spectrum disorders in the perioperative setting is limited. This study compared youth with autism spectrum disorder to typically developing children in the perioperative setting and examined group differences in: child anxiety, parent anxiety, premedication patterns, induction compliance, and changes in behavior postprocedure. METHODS: Participants were 60 youth (32 with autism spectrum disorder, 28 typically developing) of ages 2-19 years undergoing outpatient surgery and their parents. Parents and research assistants rated children’s anxiety at 3 time points (waiting room, preoperative holding, separation), and parents rated their own anxiety in the waiting room and at separation. The anesthesiologist rated induction compliance. Postprocedure behavior change was assessed via phone survey 1 and 7 days postprocedure. Analyses examined group differences in anxiety, medication patterns, and behavior. RESULTS: Children with autism spectrum disorder had higher research assistant reported anxiety than typically developing youth in the holding room only. There were no group differences in parent report of their own anxiety or their child’s anxiety across time points. Compared to typically developing youth, children with autism spectrum disorder were more likely to receive a premedication (including nonstandard premedication), and had poorer induction compliance. Groups did not differ on posthospital behavior change 1 or 7 days postsurgery. CONCLUSION: Findings revealed ratings of anxiety in youth with and without autism spectrum disorder facing surgery varied by reporter and setting, highlighting the importance of using multiple reporters in research of youth with autism spectrum disorder in the perioperative period. Furthermore, while results showed group differences in premedication patterns and induction compliance, groups did not differ in level of negative behavior change after surgery. Future research can examine how individual differences in youth with autism impact anxiety in the perioperative setting and degree of behavior change postprocedure.
Lien vers le texte intégral (Open Access ou abonnement)
4. Forrest MP, Hill MJ, Kavanagh DH, Tansey KE, Waite AJ, Blake DJ. {{The Psychiatric Risk Gene Transcription Factor 4 (TCF4) Regulates Neurodevelopmental Pathways Associated With Schizophrenia, Autism, and Intellectual Disability}}. {Schizophr Bull};2017 (Dec 8)
Background: Common genetic variants in and around the gene encoding transcription factor 4 (TCF4) are associated with an increased risk of schizophrenia. Conversely, rare damaging TCF4 mutations cause Pitt-Hopkins syndrome and have also been found in individuals with intellectual disability (ID) and autism spectrum disorder (ASD). Methods: Chromatin immunoprecipitation and next generation sequencing were used to identify the genomic targets of TCF4. These data were integrated with expression, epigenetic and disease gene sets using a range of computational tools. Results: We identify 10604 TCF4 binding sites in the genome that were assigned to 5437 genes. De novo motif enrichment found that most TCF4 binding sites contained at least one E-box (5′-CAtcTG). Approximately 77% of TCF4 binding sites overlapped with the H3K27ac histone modification for active enhancers. Enrichment analysis on the set of TCF4 targets identified numerous, highly significant functional clusters for pathways including nervous system development, ion transport and signal transduction, and co-expression modules for genes associated with synaptic function and brain development. Importantly, we found that genes harboring de novo mutations in schizophrenia (P = 5.3 x 10-7), ASD (P = 2.5 x 10-4), and ID (P = 7.6 x 10-3) were also enriched among TCF4 targets. TCF4 binding sites were also found at other schizophrenia risk loci including the nicotinic acetylcholine receptor cluster, CHRNA5/CHRNA3/CHRNB4 and SETD1A. Conclusions: These data demonstrate that TCF4 binding sites are found in a large number of neuronal genes that include many genetic risk factors for common neurodevelopmental disorders.
Lien vers le texte intégral (Open Access ou abonnement)
5. Hwang BJ, Mohamed MA, Brasic JR. {{Molecular imaging of autism spectrum disorder}}. {Int Rev Psychiatry};2017 (Dec);29(6):530-554.
Autism spectrum disorder (ASD) is a condition with onset in early childhood characterized by marked deficits in interpersonal interactions and communication and by a restricted and repetitive range of interests and activities. This review points out key recent findings utilizing molecular imaging including magnetic resonance spectroscopy (MRS) and nuclear neuroimaging techniques such as positron emission tomography (PET) and single-photon emission computed tomography (SPECT). MRS indicates an excitatory/inhibitory imbalance in high-functioning autism. Dysfunction of neurotransmitter and glucose metabolism has been demonstrated by PET and SPECT. Levels of serotonin synthesis in typically developing children are approximately twice those of adults; after the age of 5 years, levels decrease to those of adults. In contrast, levels of serotonin synthesis of children with ASD increase between ages 2 and 15 to 1.5-times adult values. The dopamine transporter is increased in the orbitofrontal cortex of men with ASD. The serotonin transporter is reduced in the brains of children, adolescents, and adults with ASD. Reduced serotonin receptors in the thalamus of adults with ASD are associated with communication difficulties. Glucose metabolism is reduced in the brains of people with ASD. Molecular imaging will provide the preliminary data for promising therapeutic interventions.
Lien vers le texte intégral (Open Access ou abonnement)
6. Kaymakcalan H, Yarman Y, Goc N, Toy F, Meral C, Ercan-Sencicek AG, Gunel M. {{Novel compound heterozygous mutations in GPT2 linked to microcephaly, and intellectual developmental disability with or without spastic paraplegia}}. {Am J Med Genet A};2017 (Dec 11)
We here describe novel compound heterozygous missense variants, NM_133443:c.[400C>T] and NM_133443:[1435G>A], in the glutamic-pyruvic transaminase 2 (GPT2) gene in a large consanguineous family with two affected siblings diagnosed with microcephaly intellectual disability and developmental delay (IDD). In addition to these clinical phenotypes, the male sibling has spastic paraplegia, and the female sibling has epilepsy. Their four extended family members have IDD and microcephaly. Both of these variants, c.400C>T (p.R134C) and c.1435G>A (p.V479M), reside in the pyridoxal phosphate-dependent aminotransferase domain. The missense variants affect highly conserved amino acids and are classified to be disease-causing by meta-SVM. The candidate variants were not found in the Exome Aggregation Consortium (ExAC) dataset or in dbSNP. Both GPT2 variants have an allele frequency of 0% (0/ approximately 600) in the whole-exome sequenced Turkish cohort. Upon Sanger sequencing, we confirmed these mutations in all affected family members and showed that the index patient and his affected sister inherited one mutant allele from each unaffected parent. To the best of our knowledge, this is the first family in which a novel compound heterozygous variant in the GPT2 gene was identified.
Lien vers le texte intégral (Open Access ou abonnement)
7. Lami F, Egberts K, Ure A, Conroy R, Williams K. {{Measurement properties of instruments that assess participation in young people with autism spectrum disorder: a systematic review}}. {Dev Med Child Neurol};2017 (Dec 12)
AIM: To systematically review the measurement properties of instruments assessing participation in young people with autism spectrum disorder (ASD). METHOD: A search was performed in MEDLINE, PsycINFO, and PubMed combining three constructs (‘ASD’, ‘test of participation’, ‘measurement properties’). Results were restricted to articles including people aged 6 to 29 years. The 2539 identified articles were independently screened by two reviewers. For the included articles, data were extracted using standard forms and their risk of bias was assessed. RESULTS: Nine studies (8 cross-sectional) met the inclusion criteria, providing information on seven different instruments. The total sample included 634 participants, with sex available for 600 (males=494; females=106) and age available for 570, with mean age for these participants 140.58 months (SD=9.11; range=36-624). Included instruments were the school function assessment, vocational index, children’s assessment of participation and enjoyment/preferences for activities of children, experience sampling method, Pediatric Evaluation of Disability Inventory, Computer Adaptive Test, adolescent and young adult activity card sort, and Patient-Reported Outcomes Measurement Information System parent-proxy peer relationships. Seven studies assessed reliability and validity; good properties were reported for half of the instruments considered. Most studies (n=6) had high risk of bias. Overall the quality of the evidence for each tool was limited. INTERPRETATION: Validation of these instruments, or others that comprehensively assess participation, is needed. Future studies should follow recommended methodological standards. WHAT THIS PAPER ADDS: Seven instruments have been used to assess participation in young people with autism. One instrument, with excellent measurement properties in one study, does not comprehensively assess participation. Studies of three instruments that incorporate a more comprehensive assessment of participation have methodological limitations. Overall, limited evidence exists regarding measurement properties of participation assessments for young people with autism.
Lien vers le texte intégral (Open Access ou abonnement)
8. Larson FV, Arrand JR, Tantam D, Jones PB, Holland AJ. {{Copy number variants in people with autism spectrum disorders and co-morbid psychosis}}. {Eur J Med Genet};2017 (Dec 7)
The genetic association between autism spectrum disorder (ASD) and psychotic disorders such as schizophrenia is complicated and mirrors the clinical overlap between these conditions to some degree. However, no studies to date have examined the genetics of individuals dually diagnosed with both ASD and psychosis. In this study, we present findings of copy number variants (CNVs) from a study of 116 well-characterised individuals with this dual diagnosis. DNA was extracted and arrayed using the Affymetrix CytoScan HD 2.8M array or the Affymetrix Cytogenetics arrays and compared with existing samples from the Database of Genomic Variants and the Simons Simplex Collection of CNVs from individuals with ASD and their families. Twenty-seven novel CNVs >/=20k base pairs were identified in the sample, most occurring in only a single individual, although two were found in two female participants. Forty-nine rare CNVs (<1.5% rate in general population) were also found at significantly higher frequencies than expected. The findings may provide evidence for areas of further study in the understanding of the development of both ASD and psychosis due to the number of affected genetic regions that have not previously been linked to these conditions. Lien vers le texte intégral (Open Access ou abonnement)
9. Mahdi S, Viljoen M, Yee T, Selb M, Singhal N, Almodayfer O, Granlund M, de Vries PJ, Zwaigenbaum L, Bolte S. {{An international qualitative study of functioning in autism spectrum disorder using the World Health Organization international classification of functioning, disability and health framework}}. {Autism Res};2017 (Dec 11)
This is the third in a series of four empirical studies designed to develop International Classification of Functioning, Disability and Health (ICF) Core Sets for Autism Spectrum Disorder (ASD). The present study aimed to describe functioning in ASD (as operationalized by the ICF) derived from the perspectives of diagnosed individuals, family members, and professionals. A qualitative study using focus groups and semi-structured interviews were conducted with 19 stakeholder groups (N = 90) from Canada, India, Saudi Arabia, South Africa, and Sweden. Meaningful concepts from the focus groups and individual interviews were linked to ICF categories using a deductive qualitative approach with standardized linking procedures. The deductive qualitative content analysis yielded meaningful functioning concepts that were linked to 110 ICF categories across all four ICF components. Broad variation of environmental factors and activities and participation categories were identified in this study, while body functions consisted mainly of mental functions. Body structures were sparsely mentioned by the participants. Positive aspects of ASD included honesty, attention to detail, and memory. The experiences provided by international stakeholders support the need to understand individuals with ASD in a broader perspective, extending beyond diagnostic criteria into many areas of functioning and environmental domains. This study is part of a larger systematic effort that will provide the basis to define ICF Core Sets for ASD, from which assessment tools can be generated for use in clinical practice, research, and health care policy making. Autism Res 2017. (c) 2017 The Authors Autism Research published by International Society for Autism Research and Wiley Periodicals, Inc. LAY SUMMARY: The study findings support the need to understand the living experiences of individuals with Autism Spectrum Disorder (ASD) from a broader perspective, taking into account many areas of an individual’s functioning and environment. The ICF can serve as foundation for exploring these living experiences more extensively by offering tools that enable wide variety of individual difficulties and strengths to be captured along with important environmental influences. As such, these tools can facilitate interventions that meet the needs and goals of the individual.
Lien vers le texte intégral (Open Access ou abonnement)
10. Oswald TM, Winder-Patel B, Ruder S, Xing G, Stahmer A, Solomon M. {{A Pilot Randomized Controlled Trial of the ACCESS Program: A Group Intervention to Improve Social, Adaptive Functioning, Stress Coping, and Self-Determination Outcomes in Young Adults with Autism Spectrum Disorder}}. {J Autism Dev Disord};2017 (Dec 12)
The purpose of this pilot randomized controlled trial was to investigate the acceptability and efficacy of the Acquiring Career, Coping, Executive control, Social Skills (ACCESS) Program, a group intervention tailored for young adults with autism spectrum disorder (ASD) to enhance critical skills and beliefs that promote adult functioning, including social and adaptive skills, self-determination skills, and coping self-efficacy. Forty-four adults with ASD (ages 18-38; 13 females) and their caregivers were randomly assigned to treatment or waitlist control. Compared to controls, adults in treatment significantly improved in adaptive and self-determination skills, per caregiver report, and self-reported greater belief in their ability to access social support to cope with stressors. Results provide evidence for the acceptability and efficacy of the ACCESS Program.
Lien vers le texte intégral (Open Access ou abonnement)
11. Ozturk Y, Bizzego A, Esposito G, Furlanello C, Venuti P. {{Physiological and self-report responses of parents of children with autism spectrum disorder to children crying}}. {Res Dev Disabil};2017 (Dec 12);73:31-39.
Little is known about the physiological response of parents of children with Autism Spectrum Disorder (ASD) to crying of children who have already received the diagnosis of ASD. This study aimed to compare cardiac dynamics via Inter-Beat Interval (IBI) and self-reported emotional states of parents of children with ASD and of parents with typically developing (TD) children while listening to crying of children with ASD (ASD cry) and of typically developing children (TD cry). Analyses revealed higher IBI in parents of children with ASD than IBI in parents of TD children while listening to both cry groups; however no differences on self-reported emotional states were observed. Parents of children with ASD were calmer (higher IBI) than parents of TD children while listening to crying. However, ASD cry did not elicit different IBI compared to TD cry. ASD cry and TD cry were differentiated based on parents’ self-responses about what they felt during the listening of crying, their physiological responses showed no differences. These results highlight the similarities and differences between self-reported emotional states and physiological responses of parents of children with ASD, and also point to the importance of monitoring parents’ physiological responses in addition to their subjective responses.
Lien vers le texte intégral (Open Access ou abonnement)
12. Toscano CVA, Carvalho HM, Ferreira JP. {{Exercise Effects for Children With Autism Spectrum Disorder: Metabolic Health, Autistic Traits, and Quality of Life}}. {Percept Mot Skills};2017 (Jan 1):31512517743823.
This study examined the effects of a 48-week exercise-based intervention on the metabolic profile, autism traits, and perceived quality of life in children with autism spectrum disorder (ASD). We randomly allocated 64 children with ASD (aged 6-12 years) to experimental ( n = 46) and control groups ( n = 18) and used multilevel regression modeling to examine responses to receiving or not receiving the intervention. The experimental group showed beneficial effects on metabolic indicators (high-density lipoprotein cholesterol, low-density lipoprotein cholesterol, and total cholesterol), autism traits, and parent-perceived quality of life. Our results provide support for exercise and physical activity, including basic coordination and strength exercises, as important therapeutic interventions for children with ASD.
Lien vers le texte intégral (Open Access ou abonnement)
13. Valentovich V, Goldberg WA, Garfin DR, Guo Y. {{Emotion Coregulation Processes between Mothers and their Children With and Without Autism Spectrum Disorder: Associations with Children’s Maladaptive Behaviors}}. {J Autism Dev Disord};2017 (Dec 12)
A dyadic microanalysis approach was used to examine emotion coregulation processes in mother-child interactions in relation to children’s maladaptive behaviors. Seventy-two mother-child dyads (46 children with Autism Spectrum Disorder (ASD); 26 neurotypical children) were previously videotaped in a semi-structured play procedure at home and mothers reported on children’s internalizing and externalizing behaviors. Mother-child interactions were reliably coded in 5-second intervals and analyzed using Space State Grid software. Regression analyses supported moderation, whereby greater dyadic flexibility and more mutual-positive engagements were significantly associated with lower levels of maladaptive outcomes for children with ASD. Results have implications for initiating positive interactions and promoting effective parenting that help improve behavior in young children with ASD.
Lien vers le texte intégral (Open Access ou abonnement)
14. Wei L, Zhong S, Nie S, Gong G. {{Aberrant development of the asymmetry between hemispheric brain white matter networks in autism spectrum disorder}}. {Eur Neuropsychopharmacol};2017 (Dec 7)
Atypical brain asymmetry/lateralization has long been hypothesized for autism spectrum disorder (ASD), and this model has been repeatedly supported by various neuroimaging studies. Recently, hemispheric network topologies have been found to be asymmetric, thereby providing a new avenue for investigating brain asymmetries under various conditions. To date, however, how network topological asymmetries are altered in ASD remains largely unexplored. To clarify this, the present study included ASD individuals from the newly released Autism Brain Imaging Data Exchange II database (58 right-handed male ASD individuals aged 5 to 26 years and 70 age- and IQ-matched typically developing (TD) individuals). Diffusion and structural magnetic resonance imaging were used to construct hemispheric white matter networks, and graph-theory approaches were applied to quantify topological efficiencies for hemispheric networks. Statistical analyses revealed a decreased rightward asymmetry of network efficiencies with increasing age in the TD group, but not in the ASD group. More specifically, the TD group did not exhibit an age-related increase in network efficiency in the right hemisphere, but the ASD group did. For the left hemisphere, no difference between the groups was observed for the developmental trajectory of network efficiencies. Intriguingly, within the ASD group, more severe restricted and repetitive behavior in ASD was found to be correlated with less rightward asymmetry of network local efficiency. These findings provide suggestive evidence of atypical network topological asymmetries and offer important insights into the abnormal development of ASD brains.
Lien vers le texte intégral (Open Access ou abonnement)
15. Yan A, Conway M, Beck CE. {{Limp in a Child With Autism Spectrum Disorder}}. {Glob Pediatr Health};2017;4:2333794×17744139.
Lien vers le texte intégral (Open Access ou abonnement)
16. Zhang W, Baranek G, Boyd B. {{Brief Report: Factors Associated with Emergency Department Visits for Epilepsy Among Children with Autism Spectrum Disorder}}. {J Autism Dev Disord};2017 (Dec 12)
We examined how demographic and clinical characteristics differ between emergency department (ED) visits for epilepsy (EP cohort) and ED visits for other reasons (non-EP cohort) in children with ASD. The data were drawn from the 2009 and 2010 Nationwide Emergency Department Sample. We performed both univariate and multivariate analyses to compare and contrast similarities and differences between EP cohort and non-EP cohort among children with ASD. The results showed ED visits in EP cohort were more likely to occur among adolescents aged 13-17 years, less likely to occur among children with co-occurring psychiatric conditions, and were more likely to co-occur with injury. We discussed some unique challenges for managing children with both ASD and epilepsy.
