1. Di Palma S, Tonacci A, Narzisi A, Domenici C, Pioggia G, Muratori F, Billeci L. {{Monitoring of autonomic response to sociocognitive tasks during treatment in children with Autism Spectrum Disorders by wearable technologies: A feasibility study}}. {Comput Biol Med};2016 (Apr 5)
BACKGROUND: Autism Spectrum Disorders (ASD) represent a heterogeneous set of neurodevelopmental disorders characterized by impairments in social domain, where the autonomic nervous system (ANS) plays an important role. Several researchers have studied the ANS in ASD, during specific cognitive or sensory stimuli while few studies have examined response during social interactions. Wearable technologies can be very helpful in monitoring autonomic response in children with ASD in semi-naturalistic setting. The novelty of this study is to use such technologies to acquire physiological signals during therapeutic sessions supported by interactive « serious games » and to correlate the ANS response to the engagement of the child during sociocognitive tasks for an evaluation of the treatment effect and for the personalization of the therapy. METHOD: A wearable chest belt for electrocardiographic (ECG) signal recording was used and specific algorithms for the extraction of clinically relevant features (Heart Rate – HR, Root Mean Square of the Successive Differences – RMSSD and Respiratory Sinus Arrhythmia – RSA) were developed. Sociocognitive tasks were mediated by « serious games » implemented on two tablets, which allowed a precise coding of the behaviors of the children. A longitudinal assessment of the physiological response of the children during six months of treatment was performed. RESULTS: A link between physiological response, i.e. decrease in RMSSD and RSA, and engagement of the children during sociocognitive tasks was found. Longitudinal changes in the children’s autonomic response, including a decrease of RSA during the engagement throughout the therapeutic sessions, were found. CONCLUSIONS: These results foster the feasibility of this methodology to be applied in a clinical setting for the monitoring of the ANS response of children with ASD during treatment. A larger sample of patients is needed to confirm these preliminary findings.
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2. Firouzabadi N, Ghazanfari N, Alavi Shoushtari A, Erfani N, Fathi F, Bazrafkan M, Bahramali E. {{Genetic Variants of Angiotensin-Converting Enzyme Are Linked to Autism: A Case-Control Study}}. {PLoS One};2016;11(4):e0153667.
BACKGROUND: Autism is a disease of complex nature with a significant genetic component. The importance of renin-angiotensin system (RAS) elements in cognition and behavior besides the interaction of angiotensin II (Ang II), the main product of angiotensin-converting enzyme (ACE), with neurotransmitters in CNS, especially dopamine, proposes the involvement of RAS in autism. Since the genetic architecture of autism has remained elusive, here we postulated that genetic variations in RAS are associated with autism. METHODS: Considering the relation between the three polymorphisms of ACE (I/D, rs4343 and rs4291) with the level of ACE activity, we have investigated this association with autism, in a case-control study. Genotype and allele frequencies of polymorphisms were determined in DNAs extracted from venous blood of 120 autistic patients and their age and sex-matched healthy controls, using polymerase chain reaction (PCR) and PCR-restriction fragment length polymorphism (PCR-RFLP) methods. RESULTS: There were strong associations between both DD genotype of ACE I/D and the D allele, with autism (P = 0.006, OR = 2.9, 95% CI = 1.64-5.13 and P = 0.006, OR = 2.18, 95% CI = 1.37-3.48 respectively). Furthermore, a significant association between the G allele of rs4343 and autism was observed (P = 0.006, OR = 1.84, 95%CI = 1.26-2.67). Moreover, haplotype analysis revealed an association between DTG haplotype and autism (P = 0.008). CONCLUSION: Our data suggests the involvement of RAS genetic diversity in increasing the risk of autism.
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3. Foss-Feig JH, McGugin RW, Gauthier I, Mash LE, Ventola P, Cascio CJ. {{A functional neuroimaging study of fusiform response to restricted interests in children and adolescents with autism spectrum disorder}}. {J Neurodev Disord};2016;8:15.
BACKGROUND: While autism spectrum disorder (ASD) is characterized by both social communication deficits and restricted and repetitive patterns of behavior and interest, literature examining possible neural bases of the latter class of symptoms is limited. The fusiform face area (FFA) is a region in the ventral temporal cortex that not only shows preferential responsiveness to faces but also responds to non-face objects of visual expertise. Because restricted interests in ASD are accompanied by high levels of visual expertise, the objective of this study was to determine the extent to which this region responds to images related to restricted interests in individuals with ASD, compared to individuals without ASD who have a strong hobby or interest. METHODS: Children and adolescents with and without ASD with hobbies or interests that consumed a pre-determined minimum amount of time were identified, and the intensity, frequency, and degree of interference of these interests were quantified. Each participant underwent functional magnetic resonance imaging (fMRI) while viewing images related to their personal restricted interests (in the ASD group) or strong interest or hobby (in the comparison group). A generalized linear model was used to compare the intensity and spatial extent of fusiform gyrus response between groups, controlling for the appearance of faces in the stimuli. RESULTS: Images related to interests and expertise elicited response in FFA in both ASD and typically developing individuals, but this response was more robust in ASD. CONCLUSIONS: These findings add neurobiological support to behavioral observations that restricted interests are associated with enhanced visual expertise in ASD, above and beyond what would be expected for simply a strong interest. Further, the results suggest that brain regions associated with social functioning may not be inherently less responsive in ASD, but rather may be recruited by different environmental stimuli. This study contributes to our understanding of the neural basis of restricted interests in ASD and may provide clues toward developing novel interventions.
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4. Husarova VM, Lakatosova S, Pivovarciova A, Babinska K, Bakos J, Durdiakova J, Kubranska A, Ondrejka I, Ostatnikova D. {{Plasma Oxytocin in Children with Autism and Its Correlations with Behavioral Parameters in Children and Parents}}. {Psychiatry Investig};2016 (Mar);13(2):174-183.
OBJECTIVE: Oxytocin (OT) has been implicated to play an important role in autism spectrum disorders (ASD) etiology. We aimed to find out the differences in plasma OT levels between children with autism and healthy children, the associations of OT levels with particular autism symptoms and the associations of particular parental autistic traits with their ASD children OT levels. METHODS: We included 19 boys with autism and 44 healthy age-matched boys. OT levels were analyzed by ELISA method. Children with autism were scored by Childhood Autism Rating Scale and Autism Diagnostic Interview (ADI), adjusted research version. Autism Spectrum Quotient (AQ), Systemizing Quotient (SQ) and Empathizing Quotient were completed by parents of children with autism. RESULTS: Children with autism had significantly lower plasma OT levels than controls. OT levels positively correlated with ADI Reciprocal Interaction and Communication scores. AQ and SQ of fathers positively correlated with children plasma OT level. CONCLUSION: Our results support the hypothesis of OT deficiency in autism. The « paradoxical » associations of OT levels and social skills in children with autism indicate disturbances at various levels of OT system. We first reported associations of OT levels in children with autism and behavioral measures in fathers indicating that OT abnormalities stay between parental autistic traits and autism symptoms in their children.
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5. Katz DM, Menniti FS, Mather RJ. {{N-Methyl-D-Aspartate Receptors, Ketamine, and Rett Syndrome: Something Special on the Road to Treatments?}}. {Biol Psychiatry};2016 (May 1);79(9):710-712.
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6. Liu X, Kawashima M, Miyagawa T, Otowa T, Latt KZ, Thiri M, Nishida H, Sugiyama T, Tsurusaki Y, Matsumoto N, Mabuchi A, Kato N, Tokunaga K, Sasaki T. {{Erratum: Novel rare variations of the oxytocin receptor () gene in autism spectrum disorder individuals}}. {Hum Genome Var};2016;3:15046.
[This corrects the article DOI: 10.1038/hgv.2015.24.][This corrects the article DOI: 10.1038/hgv.2015.24.].
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7. Mangatt M, Wong K, Anderson B, Epstein A, Hodgetts S, Leonard H, Downs J. {{Prevalence and onset of comorbidities in the CDKL5 disorder differ from Rett syndrome}}. {Orphanet J Rare Dis};2016;11(1):39.
BACKGROUND: Initially described as an early onset seizure variant of Rett syndrome, the CDKL5 disorder is now considered as an independent entity. However, little is currently known about the full spectrum of comorbidities that affect these patients and available literature is limited to small case series. This study aimed to use a large international sample to examine the prevalence in this disorder of comorbidities of epilepsy, gastrointestinal problems including feeding difficulties, sleep and respiratory problems and scoliosis and their relationships with age and genotype. Prevalence and onset were also compared with those occurring in Rett syndrome. METHODS: Data for the CDKL5 disorder and Rett syndrome were sourced from the International CDKL5 Disorder Database (ICDD), InterRett and the Australian Rett syndrome Database (ARSD). Logistic regression (multivariate and univariate) was used to analyse the relationships between age group, mutation type and the prevalence of various comorbidities. Binary longitudinal data from the ARSD and the equivalent cross-sectional data from ICDD were examined using generalized linear models with generalized estimating equations. The Kaplan-Meier method was used to estimate the failure function for the two disorders and the log-rank test was used to compare the two functions. RESULTS: The likelihood of experiencing epilepsy, GI problems, respiratory problems, and scoliosis in the CDKL5 disorder increased with age and males were more vulnerable to respiratory and sleep problems than females. We did not identify any statistically significant relationships between mutation group and prevalence of comorbidities. Epilepsy, GI problems and sleep abnormalities were more common in the CDKL5 disorder than in Rett syndrome whilst scoliosis and respiratory problems were less prevalent. CONCLUSION: This study captured a much clearer picture of the CDKL5 disorder than previously possible using the largest sample available to date. There were differences in the presentation of clinical features occurring in the CDKL5 disorder and in Rett syndrome, reinforcing the concept that CDKL5 is an independent disorder with its own distinctive characteristics.
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8. Zhang W, Baranek G. {{The Impact of Insurance Coverage Types on Access to and Utilization of Health Services for U.S. Children With Autism}}. {Psychiatr Serv};2016 (Apr 15):appips201500206.
OBJECTIVE: The study examined the association of insurance type with access to and utilization of essential health services among children with autism spectrum disorder (ASD). METHODS: Multivariate logistic regressions were used to illustrate the relationship between the indicators of health services utilization and insurance coverage types among U.S. children with ASD (N=2,041). Analyses used secondary data from the 2011-2012 National Survey of Children’s Health. RESULTS: Privately insured children with ASD were significantly less likely than their publicly insured counterparts to receive therapy (OR=.49). The odds of having any out-of-pocket medical expenses for families with private insurance were 11.0 times greater than for families with public insurance. CONCLUSIONS: The findings reflect current gaps between public and private insurance coverage in the health system for access to and utilization of health services for children with ASD. Special attention should be directed to private insurance plans, where needed health services may be inadequately covered.
