1. Arai S, Hoshino K. {{[Low dose L-dopa therapy and SST improved communication skill in a female autistic child]}}. {No To Hattatsu};2015 (Jan);47(1):55-56.
2. Bresnahan M, Hornig M, Schultz AF, Gunnes N, Hirtz D, Lie KK, Magnus P, Reichborn-Kjennerud T, Roth C, Schjolberg S, Stoltenberg C, Suren P, Susser E, Lipkin WI. {{Association of Maternal Report of Infant and Toddler Gastrointestinal Symptoms With Autism: Evidence From a Prospective Birth Cohort}}. {JAMA Psychiatry};2015 (Mar 25)
Importance: Gastrointestinal (GI) comorbidities are frequently described in association with autism spectrum disorder (ASD). However, the prevalence of GI disturbances and the age at which such problems first appear are unclear, and their specificity for ASD compared with other neurodevelopmental disorders is uncertain. Objective: To compare maternal report of GI symptoms during the first 3 years of life in children with ASD, developmental delay (DD), and typical development (TD). Design, Setting, and Participants: This large prospective cohort study consists of participants in the Norwegian Mother and Child Cohort Study. During a 10-year period (January 1, 1999, through December 31, 2008), women throughout Norway were recruited at the first prenatal ultrasonographic visit (approximately 18 weeks’ gestation). The study enrolled 95 278 mothers, 75 248 fathers, and 114 516 children. Our analyses are based on MoBa data released through October 1, 2013, and NPR diagnoses registered through December 31, 2012, and include children born from January 1, 2002, through December 31, 2008, with completed age 18- and 36-month questionnaires. Exposures: We defined 3 groups of children: children with ASD (n = 195), children with DD and delayed language and/or motor development (n = 4636), and children with TD (n = 40 295). Main Outcomes and Measures: The GI symptoms were based on maternal report of constipation, diarrhea, and food allergy/intolerance. Results: Children with ASD were at significantly increased odds of maternally reported constipation (adjusted odds ratio [aOR], 2.7; 95% CI, 1.9-3.8; P < .001) and food allergy/intolerance (aOR, 1.7; 95% CI, 1.1-2.6; P = .01) in the 6- to 18-month-old age period and diarrhea (aOR, 2.3; 95% CI, 1.5-3.6; P < .001), constipation (aOR, 1.6; 95% CI, 1.2-2.3; P < .01), and food allergy/intolerance (aOR, 2.0; 95% CI, 1.3-3.1; P < .01) in the 18- to 36-month-old age period compared with children with TD. Similar results for these symptom categories were observed in comparisons with children with DD, but ORs were slightly lower. Mothers of children with ASD were significantly more likely to report 1 or more GI symptom in either the 6- to 18-month or the 18- to 36-month-old age period and more than twice as likely to report at least 1 GI symptom in both age periods compared with mothers of children with TD or DD. Conclusions and Relevance: In this large prospective cohort, maternally reported GI symptoms are more common and more often persistent during the first 3 years of life in children with ASD than in children with TD or DD.
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3. De Giacomo A, De Giambattista C, Balducci R, Craig F. {{[SCQ as a tool for screening ASD comorbidities with ADHD]}}. {Riv Psichiatr};2015 (Jan-Feb);50(1):34-37.
The aim of the study is to evaluate the effectiveness of the Social Communication Questionnaire (SCQ) to early recognize autistic spectrum disorder (ASD) patients with a comorbidity of attention deficit hyperactivity disorder (ADHD). The SCQ is a 40 items questionnaire developed as a screening tool for ASD in children, with yes/no questions (presence of symptoms with a score of 1/ absence of symptoms with a score of 0) and a risk cutoff. We have analyzed 75 questionnaires completed by both parents of the 75 children referred to the Child Neuropsychiatry Unit of the « Aldo Moro » University of Bari for a psychopathological assessment. These patients received a diagnosis of ASD with a comorbidity of ADHD (24) or without a comorbidity with ADHD (51). Results indicate a higher score of SCQ in patients with overlap diagnosis rather than patients with pure ASD. In particular, the items with a higher frequency are deficit in sociability, empathy and impulse control. Furthermore, patients with intellectual disabilities have a higher score. Findings highlight the use of the SCQ in the assessment of ASD population to early detect potential comorbidity with ADHD.
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4. Egawa J, Watanabe Y, Wang C, Inoue E, Sugimoto A, Sugiyama T, Igeta H, Nunokawa A, Shibuya M, Kushima I, Orime N, Hayashi T, Okada T, Uno Y, Ozaki N, Someya T. {{Novel rare missense variations and risk of autism spectrum disorder: whole-exome sequencing in two families with affected siblings and a two-stage follow-up study in a Japanese population}}. {PLoS One};2015;10(3):e0119413.
Rare inherited variations in multiplex families with autism spectrum disorder (ASD) are suggested to play a major role in the genetic etiology of ASD. To further investigate the role of rare inherited variations, we performed whole-exome sequencing (WES) in two families, each with three affected siblings. We also performed a two-stage follow-up case-control study in a Japanese population. WES of the six affected siblings identified six novel rare missense variations. Among these variations, CLN8 R24H was inherited in one family by three affected siblings from an affected father and thus co-segregated with ASD. In the first stage of the follow-up study, we genotyped the six novel rare missense variations identified by WES in 241 patients and 667 controls (the Niigata sample). Only CLN8 R24H had higher mutant allele frequencies in patients (1/482) compared with controls (1/1334). In the second stage, this variation was further genotyped, yet was not detected in a sample of 309 patients and 350 controls (the Nagoya sample). In the combined Niigata and Nagoya samples, there was no significant association (odds ratio = 1.8, 95% confidence interval = 0.1-29.6). These results suggest that CLN8 R24H plays a role in the genetic etiology of ASD, at least in a subset of ASD patients.
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5. Jachim S, Warren PA, McLoughlin N, Gowen E. {{Collinear facilitation and contour integration in autism: evidence for atypical visual integration}}. {Front Hum Neurosci};2015;9:115.
Autism spectrum disorder (ASD) is a neurodevelopmental disorder characterized by impaired social interaction, atypical communication and a restricted repertoire of interests and activities. Altered sensory and perceptual experiences are also common, and a notable perceptual difference between individuals with ASD and controls is their superior performance in visual tasks where it may be beneficial to ignore global context. This superiority may be the result of atypical integrative processing. To explore this claim we investigated visual integration in adults with ASD (diagnosed with Asperger’s Syndrome) using two psychophysical tasks thought to rely on integrative processing-collinear facilitation and contour integration. We measured collinear facilitation at different flanker orientation offsets and contour integration for both open and closed contours. Our results indicate that compared to matched controls, ASD participants show (i) reduced collinear facilitation, despite equivalent performance without flankers; and (ii) less benefit from closed contours in contour integration. These results indicate weaker visuospatial integration in adults with ASD and suggest that further studies using these types of paradigms would provide knowledge on how contextual processing is altered in ASD.
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6. Kriete T, Noelle DC. {{Dopamine and the development of executive dysfunction in autism spectrum disorders}}. {PLoS One};2015;10(3):e0121605.
Persons with autism regularly exhibit executive dysfunction (ED), including problems with deliberate goal-directed behavior, planning, and flexible responding in changing environments. Indeed, this array of deficits is sufficiently prominent to have prompted a theory that executive dysfunction is at the heart of these disorders. A more detailed examination of these behaviors reveals, however, that some aspects of executive function remain developmentaly appropriate. In particular, while people with autism often have difficulty with tasks requiring cognitive flexibility, their fundamental cognitive control capabilities, such as those involved in inhibiting an inappropriate but relatively automatic response, show no significant impairment on many tasks. In this article, an existing computational model of the prefrontal cortex and its role in executive control is shown to explain this dichotomous pattern of behavior by positing abnormalities in the dopamine-based modulation of frontal systems in individuals with autism. This model offers excellent qualitative and quantitative fits to performance on standard tests of cognitive control and cognitive flexibility in this clinical population. By simulating the development of the prefrontal cortex, the computational model also offers a potential explanation for an observed lack of executive dysfunction early in life.
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7. Ooi YP, Weng SJ, Jang LY, Low L, Seah J, Teo S, Ang RP, Lim CG, Liew A, Fung DS, Sung M. {{Omega-3 fatty acids in the management of autism spectrum disorders: findings from an open-label pilot study in Singapore}}. {Eur J Clin Nutr};2015 (Mar 25)
The goal of this open-label trial was to examine the efficacy and safety of a 12-week omega-3 fatty acids supplementation among children suffering with Autism Spectrum Disorders (ASD). A total of 41 children and adolescents aged 7-18 years (36 boys, 5 girls; mean age=11.66, s.d.=3.05) diagnosed with ASD participated in the study. At post-treatment, participants showed significant improvements on all subscales of the Social Responsiveness Scale (P<0.01) and the Social and Attention Problems syndrome scales of the Child Behavior Checklist (P<0.05). Blood fatty acid levels were significantly correlated with changes in the core symptoms of ASD. Baseline levels of blood fatty acid levels were also predictive of response to the omega-3 treatment. Omega-3 fatty acids supplementation was well-tolerated and did not cause any serious side effects. Our findings lend some preliminary support for the use of omega-3 fatty acids supplementation in addressing ASD. Future randomized controlled trials of omega-3 fatty acids in ASD with blood fatty acid measurements with a larger sample and longer follow-up period is warranted.European Journal of Clinical Nutrition advance online publication, 25 March 2015; doi:10.1038/ejcn.2015.28.
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8. Selten JP, Lundberg M, Rai D, Magnusson C. {{Risks for Nonaffective Psychotic Disorder and Bipolar Disorder in Young People With Autism Spectrum Disorder: A Population-Based Study}}. {JAMA Psychiatry};2015 (Mar 25)
Importance: Whether individuals with autism spectrum disorder (ASD) are at increased risk for nonaffective psychotic disorder (NAPD) or bipolar disorder (BD) is unknown. Objective: To test whether the risks for NAPD and BD in individuals with ASD are increased and whether these risks are higher than those of their siblings not diagnosed as having ASD. Design, Setting, and Participants: We performed a nested case-control study of all individuals 17 years or younger who ever resided in Stockholm County, Sweden, from January 1, 2001, through December 31, 2011 (Stockholm Youth Cohort). We included cohort members ever diagnosed as having ASD (n = 9062) and their full siblings never diagnosed as having ASD. Each case was matched with 10 control individuals of the same sex born during the same month and year. Using Swedish registers, cases, siblings, and controls were followed up until December 31, 2011. By then, the oldest individuals had reached the age of 27 years. Exposures: Autism spectrum disorder, registered before age 16 or 28 years. We distinguished between ASD with and without intellectual disability (ID). Main Outcomes and Measures: We calculated odds ratios (ORs) for NAPD and BD adjusted for age, sex, population density of place of birth, personal or parental history of migration, hearing impairment, parental age, parental income, parental educational level, and parental history of psychiatric disorder. Results: The adjusted ORs for NAPD and BD for cases with non-ID ASD registered before age 16 years were 5.6 (95% CI, 3.3-8.5) and 5.8 (95% CI, 3.9-8.7), respectively; the adjusted ORs for cases with ID ASD were 3.5 (95% CI, 2.0-6.0) and 1.8 (95% CI, 0.8-4.1). The adjusted ORs for NAPD and BD in cases with non-ID ASD registered before age 28 years were 12.3 (95% CI, 9.5-15.9) and 8.5 (95% CI, 6.5-11.2), respectively; for cases with ID ASD, these ORs were 6.4 (95% CI, 4.2-9.8) and 2.0 (95% CI, 1.0-3.9), respectively. The ORs for NAPD and BD for the nonautistic full siblings of cases for whom ASD was registered before age 16 years, adjusted for hearing loss, were 1.8 (95% CI, 1.1-2.7) and 1.7 (95% CI, 1.1-2.6), respectively. Conclusions and Relevance: A diagnosis of ASD is associated with a substantially increased risk for NAPD and BD. This finding contributes to our understanding of these disorders and has implications for the management of ASD.
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9. Turner TN, Sharma K, Oh EC, Liu YP, Collins RL, Sosa MX, Auer DR, Brand H, Sanders SJ, Moreno-De-Luca D, Pihur V, Plona T, Pike K, Soppet DR, Smith MW, Cheung SW, Martin CL, State MW, Talkowski ME, Cook E, Huganir R, Katsanis N, Chakravarti A. {{Loss of delta-catenin function in severe autism}}. {Nature};2015 (Mar 25)
Autism is a multifactorial neurodevelopmental disorder affecting more males than females; consequently, under a multifactorial genetic hypothesis, females are affected only when they cross a higher biological threshold. We hypothesize that deleterious variants at conserved residues are enriched in severely affected patients arising from female-enriched multiplex families with severe disease, enhancing the detection of key autism genes in modest numbers of cases. Here we show the use of this strategy by identifying missense and dosage sequence variants in the gene encoding the adhesive junction-associated delta-catenin protein (CTNND2) in female-enriched multiplex families and demonstrating their loss-of-function effect by functional analyses in zebrafish embryos and cultured hippocampal neurons from wild-type and Ctnnd2 null mouse embryos. Finally, through gene expression and network analyses, we highlight a critical role for CTNND2 in neuronal development and an intimate connection to chromatin biology. Our data contribute to the understanding of the genetic architecture of autism and suggest that genetic analyses of phenotypic extremes, such as female-enriched multiplex families, are of innate value in multifactorial disorders.
