1. Abu-Akel A, Apperly IA, Wood SJ, Hansen PC, Mevorach C. {{Autism Tendencies and Psychosis Proneness Interactively Modulate Saliency Cost}}. {Schizophrenia bulletin}. 2016 May 23.
Atypical responses to salient information are a candidate endophenotype for both autism and psychosis spectrum disorders. The present study investigated the costs and benefits of such atypicalities for saliency-based selection in a large cohort of neurotypical adults in whom both autism and psychosis expressions were assessed. Two experiments found that autism tendencies and psychosis proneness interactively modulated the cost incurred in the presence of a task-irrelevant salient distractor. Specifically, expressions of autism and psychosis had opposing effects on responses to salient information such that the benefits associated with high expressions for autism offset costs associated with high expressions for psychosis. The opposing influences observed on saliency cost may be driven by distinct attentional mechanisms that are differentially affected by expressions for autism and psychosis.
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2. Allard MJ, Bergeron JD, Baharnoori M, Srivastava LK, Fortier LC, Poyart C, Sebire G. {{A sexually dichotomous, autistic-like phenotype is induced by Group B Streptococcus maternofetal immune activation}}. {Autism research : official journal of the International Society for Autism Research}. 2016 May 25.
Group B Streptococcus (GBS) is a commensal bacterium present in the lower genital tract of 15-30% of healthy pregnant women. GBS is the leading cause of chorioamnionitis and cerebral injuries in newborns, occurring most often in the absence of maternofetal pathogen translocation. Despite GBS being the most frequent bacterium colonizing pregnant women, no preclinical studies have investigated the impact of end-gestational maternal GBS exposure on the offspring’s brain development and its behavioral correlates. Our hypothesis is that GBS-induced gestational infection/inflammation has a deleterious neurodevelopmental impact on uninfected offspring. Our goal was to study the impact of maternal GBS infection on the placental and neurodevelopmental features in the offspring using a new preclinical rat model. GBS-exposed placentas exhibited chorioamnionitis characterized by the presence of Gram-positive cocci and polymorphonuclear cells, with the latter being significantly more prominent in the labyrinth of male offspring. GBS-exposed male offspring had reduced thickness of periventricular white matter. In addition, they exhibited autistic-like behaviors, such as abnormal social interaction and communication, impaired processing of sensory information and hyperactivity. Overall, these data show for the first time that gestational exposure to GBS plays an important role in the generation of neurodevelopmental abnormalities reminiscent of human autism spectrum disorders (ASD). These results provide new evidence in favor of the role of a common and modifiable infectious/inflammatory environmental factor in human ASD pathophysiology. Autism Res 2016,. (c) 2016 International Society for Autism Research, Wiley Periodicals, Inc.
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3. Carson TB, Wilkes BJ, Patel K, Pineda JL, Ko JH, Newell KM, Bodfish JW, Schubert MC, Radonovich K, White KD, Lewis MH. {{Vestibulo-ocular reflex function in children with high-functioning autism spectrum disorders}}. {Autism research : official journal of the International Society for Autism Research}. 2016 May 25.
Sensorimotor processing alterations are a growing focus in the assessment and treatment of Autism Spectrum Disorders (ASD). The rotational vestibulo-ocular reflex (rVOR), which functions to maintain stable vision during head movements, is a sensorimotor system that may be useful in understanding such alterations and their underlying neurobiology. In this study, we assessed post-rotary nystagmus elicited by continuous whole body rotation among children with high-functioning ASD and typically developing children. Children with ASD exhibited increased rVOR gain, the ratio of eye velocity to head velocity, indicating a possible lack of cerebellar inhibitory input to brainstem vestibular nuclei in this population. The ASD group also showed less regular or periodic horizontal eye movements as indexed by greater variance accounted for by multiple higher frequency bandwidths as well as greater entropy scores compared to typically developing children. The decreased regularity or dysrhythmia in the temporal structure of nystagmus beats in children with ASD may be due to alterations in cerebellum and brainstem circuitry. These findings could potentially serve as a model to better understand the functional effects of differences in these brain structures in ASD. Autism Res 2016. (c) 2016 International Society for Autism Research, Wiley Periodicals, Inc.
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4. Chen F. {{Risperidone-Induced Acute Respiratory Distress in an Adolescent with Autism}}. {Journal of child and adolescent psychopharmacology}. 2016 May 24.
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5. Clipperton-Allen AE, Chen Y, Page DT. {{Autism-relevant behaviors are minimally impacted by conditional deletion of Pten in oxytocinergic neurons}}. {Autism research : official journal of the International Society for Autism Research}. 2016 May 25.
Germline heterozygous mutations in Pten (phosphatase and tensin homolog) are associated with macrocephaly and autism spectrum disorders (ASD). Pten germline heterozygous (Pten+/- ) mice approximate these mutations, and both sexes show widespread brain overgrowth and impaired social behavior. Strikingly similar behavior phenotypes have been reported in oxytocin (Oxt) and/or oxytocin receptor (OxtR) knockout mice. Thus, we hypothesized that the behavioral phenotypes of germline Pten+/- mice may be caused by reduced Pten function in Oxt-expressing cells. To investigate this, we tested mice in which Pten was conditionally deleted using oxytocin-Cre (Oxt-Cre+ ; PtenloxP/+ , Oxt-Cre+ ; PtenloxP/loxP ) on a battery including assays of social, repetitive, depression-like, and anxiety-like behaviors. Minimal behavioral abnormalities were found; decreased anxiety-like behavior in the open field test in Oxt-Cre+ ; PtenloxP/loxP males was the only result that phenocopied germline Pten+/- mice. However, Oxt cell size was dramatically increased in Oxt-Cre+ ; PtenloxP/loxP mice in adulthood. Thus, conditional deletion of Pten using Oxt-Cre has a profound effect on Oxt cell structure, but not on ASD-relevant behavior. We interpret these results as inconsistent with our starting hypothesis that reduced Pten function in Oxt-expressing cells causes the behavioral deficits observed in germline Pten+/- mice. Autism Res 2016. (c) 2016 International Society for Autism Research, Wiley Periodicals, Inc.
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6. Ellis SE, Panitch R, West AB, Arking DE. {{Transcriptome analysis of cortical tissue reveals shared sets of downregulated genes in autism and schizophrenia}}. {Translational psychiatry}. 2016;6:e817.
Autism (AUT), schizophrenia (SCZ) and bipolar disorder (BPD) are three highly heritable neuropsychiatric conditions. Clinical similarities and genetic overlap between the three disorders have been reported; however, the causes and the downstream effects of this overlap remain elusive. By analyzing transcriptomic RNA-sequencing data generated from post-mortem cortical brain tissues from AUT, SCZ, BPD and control subjects, we have begun to characterize the extent of gene expression overlap between these disorders. We report that the AUT and SCZ transcriptomes are significantly correlated (P<0.001), whereas the other two cross-disorder comparisons (AUT-BPD and SCZ-BPD) are not. Among AUT and SCZ, we find that the genes differentially expressed across disorders are involved in neurotransmission and synapse regulation. Despite the lack of global transcriptomic overlap across all three disorders, we highlight two genes, IQSEC3 and COPS7A, which are significantly downregulated compared with controls across all three disorders, suggesting either shared etiology or compensatory changes across these neuropsychiatric conditions. Finally, we tested for enrichment of genes differentially expressed across disorders in genetic association signals in AUT, SCZ or BPD, reporting lack of signal in any of the previously published genome-wide association study (GWAS). Together, these studies highlight the importance of examining gene expression from the primary tissue involved in neuropsychiatric conditions-the cortical brain. We identify a shared role for altered neurotransmission and synapse regulation in AUT and SCZ, in addition to two genes that may more generally contribute to neurodevelopmental and neuropsychiatric conditions. Lien vers le texte intégral (Open Access ou abonnement)
7. Hartley SL, Papp LM, Bolt D. {{Spillover of Marital Interactions and Parenting Stress in Families of Children With Autism Spectrum Disorder}}. {Journal of clinical child and adolescent psychology : the official journal for the Society of Clinical Child and Adolescent Psychology, American Psychological Association, Division 53}. 2016 May 24:1-12.
Few disorders appear to be more challenging for parents than autism spectrum disorder (ASD). Little is known about the extent to which parenting stress experienced by parents of children with ASD affects or is affected by marital quality. We examined daily spillover between level of parenting stress and marital interactions in a sample of 176 married couples (89.4% Caucasian, non-Hispanic) who have a child with ASD (5-12 years of age, 85% male) via a 14-day daily diary approach. On each day of the daily diary, parents individually reported on 8 positive and 8 negative marital interactions and their level of parenting stress. Dyadic multilevel modeling analyses using hierarchical linear modeling were conducted to examine same-day and lagged-effect associations between number of positive and negative marital interactions and level of parenting stress. Having a day with a higher number of negative marital interactions was associated with a higher level of parenting stress for both mothers and fathers of children with ASD. Having a day with fewer positive marital interactions was associated with having a more stressful parenting day for mothers of children with ASD. Same-day spillover was moderated by parent gender and the functioning of the child with ASD. Spillover flowed bidirectionally for mothers of children with ASD. Helping parents of children with ASD find ways to engage in positive marital interactions on stressful parenting days and avoid having negative affect, tension, and behaviors stemming from negative marital interactions spill into parenting experiences are important intervention targets.
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8. Jones KL, Croen LA, Yoshida CK, Heuer L, Hansen R, Zerbo O, DeLorenze GN, Kharrazi M, Yolken R, Ashwood P, Van de Water J. {{Autism with intellectual disability is associated with increased levels of maternal cytokines and chemokines during gestation}}. {Molecular psychiatry}. 2016 May 24.
Immune abnormalities have been described in some individuals with autism spectrum disorders (ASDs) as well as their family members. However, few studies have directly investigated the role of prenatal cytokine and chemokine profiles on neurodevelopmental outcomes in humans. In the current study, we characterized mid-gestational serum profiles of 22 cytokines and chemokines in mothers of children with ASD (N=415), developmental delay (DD) without ASD (N=188), and general population (GP) controls (N=428) using a bead-based multiplex technology. The ASD group was further divided into those with intellectual disabilities (developmental/cognitive and adaptive composite score<70) (ASD+ID, N=184) and those without (composite score70) (ASD-noID, N=201). Levels of cytokines and chemokines were compared between groups using multivariate logistic regression analyses, adjusting for maternal age, ethnicity, birth country and weight, as well as infant gender, birth year and birth month. Mothers of children with ASD+ID had significantly elevated mid-gestational levels of numerous cytokines and chemokines, such as granulocyte macrophage colony-stimulating factor, interferon-gamma, interleukin-1alpha (IL-1alpha) and IL-6, compared with mothers of children with either ASD-noID, those with DD, or GP controls. Conversely, mothers of children with either ASD-noID or with DD had significantly lower levels of the chemokines IL-8 and monocyte chemotactic protein-1 compared with mothers of GP controls. This observed immunologic distinction between mothers of children with ASD+ID from mothers of children with ASD-noID or DD suggests that the intellectual disability associated with ASD might be etiologically distinct from DD without ASD. These findings contribute to the ongoing efforts toward identification of early biological markers specific to subphenotypes of ASD.Molecular Psychiatry advance online publication, 24 May 2016; doi:10.1038/mp.2016.77. Lien vers le texte intégral (Open Access ou abonnement)
9. Joseph RM, O’Shea TM, Allred EN, Heeren T, Hirtz D, Paneth N, Leviton A, Kuban KC. {{Prevalence and associated features of autism spectrum disorder in extremely low gestational age newborns at age 10 years}}. {Autism research : official journal of the International Society for Autism Research}. 2016 May 25.
We sought to estimate the prevalence of autism spectrum disorder (ASD) in children born extremely preterm relative to the U.S. population risk of 1.5% [CDC, 2014] using the best-available diagnostic procedures and minimizing confounding with other neurodevelopmental impairments. Eight hundred and eighty nine of 966 (92%) 10-year-old children from the Extremely Low Gestational Age Newborn birth cohort, delivered at 23-27 weeks gestation in 2002-2004, participated. Children meeting ASD screening criteria on the Social Communication Questionnaire were evaluated with the Autism Diagnostic Interview-Revised (ADI-R). Those meeting ADI-R criteria were assessed with the Autism Diagnostic Observation Schedule-2 (ADOS-2). A positive ADOS-2 score was the criterion for ASD. Twenty-six participants were not assessed for ASD because of severe sensory or motor impairment. In the remaining sample, 61 children met criteria for ASD, resulting in a prevalence of 7.1% (95% CI = 5.5-9.0). ASD risk decreased with increasing gestational age, from 15.0% (95% CI = 10.0-21.2) for 23-24 weeks, 6.5% (95% CI = 4.2-9.4) for 25-26 weeks, to 3.4% (95% CI = 1.6-6.1) for 27 weeks gestational age, and this association was independent of IQ. Among children with ASD, 40% had intellectual disability. The male-to-female ratio of children with ASD was 2.1:1 (95% CI = 1.2:1-3.5:1), lower than in the general population (4:1). ASD prevalence in the ELGAN cohort was four times higher than in the general population, and was strongly associated with gestational age, underscoring the need for enhanced ASD screening of children born preterm, and suggesting that some risk factors associated with preterm birth may also play a role in the etiology of autism. Autism Res 2016. (c) 2016 International Society for Autism Research, Wiley Periodicals, Inc.
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10. Korhonen V, Werner S. {{Autistic traits and attention to speech: Evidence from typically developing individuals}}. {Logopedics, phoniatrics, vocology}. 2016 May 23:1-7.
Individuals with autism spectrum disorder have a preference for attending to non-speech stimuli over speech stimuli. We are interested in whether non-speech preference is only a feature of diagnosed individuals, and whether we can we test implicit preference experimentally. In typically developed individuals, serial recall is disrupted more by speech stimuli than by non-speech stimuli. Since behaviour of individuals with autistic traits resembles that of individuals with autism, we have used serial recall to test whether autistic traits influence task performance during irrelevant speech sounds. The errors made on the serial recall task during speech or non-speech sounds were counted as a measure of speech or non-speech preference in relation to no sound condition. We replicated the serial order effect and found the speech to be more disruptive than the non-speech sounds, but were unable to find any associations between the autism quotient scores and the non-speech sounds. Our results may indicate a learnt behavioural response to speech sounds.
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11. Limberg K, Gruber K, Noterdaeme M. {{The German version of the Child Behavior Checklist 1.5-5 to identify children with a risk of autism spectrum disorder}}. {Autism : the international journal of research and practice}. 2016 May 22.
A long delay between the first registered symptoms of autism spectrum disorder and a final diagnosis has been reported. The reasons for this are the spare use of specialized autism instruments, missing clinical expertise, and the late referral to specialized centers in primary care. Previous studies recommending the Child Behavior Checklist 1.5-5 for screening have requested additional research. A total of 183 children aged 25-71 months participated in this study. The Child Behavior Checklist scales of 80 children with autism spectrum disorder were compared with 103 children diagnosed with other psychiatric disorders. In the logistic regression analysis, the Withdrawn and Pervasive Developmental Problems Child Behavior Checklist scales with a significant predictive value of risk for an autism spectrum disorder diagnosis were identified. The optimal cutoff points T = 64.5 on the Pervasive Developmental Problems scale (area under the curve = 0.781, sensitivity = 0.83, specificity = 0.60, positive predictive value = 0.62, negative predictive value = 0.82, odds ratio = 7) and T = 60.5 on the Withdrawn scale (area under the curve = 0.809, sensitivity = 0.88, specificity = 0.63, positive predictive value = 0.65, negative predictive value = 0.87, odds ratio = 12) were evaluated in the receiver operating characteristics analysis. The present study confirms the utility of the German version of the Child Behavior Checklist 1.5-5 as a level 1 screening tool to identify children with a risk of autism spectrum disorder; however, a risk of over-identifying should be considered. The Child Behavior Checklist 1.5-5 can complement the pediatric examination as a quick and cost-effective questionnaire.
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12. Nagaoka A, Takehara H, Hayashi-Takagi A, Noguchi J, Ishii K, Shirai F, Yagishita S, Akagi T, Ichiki T, Kasai H. {{Abnormal intrinsic dynamics of dendritic spines in a fragile X syndrome mouse model in vivo}}. {Scientific reports}. 2016;6:26651.
Dendritic spine generation and elimination play an important role in learning and memory, the dynamics of which have been examined within the neocortex in vivo. Spine turnover has also been detected in the absence of specific learning tasks, and is frequently exaggerated in animal models of autistic spectrum disorder (ASD). The present study aimed to examine whether the baseline rate of spine turnover was activity-dependent. This was achieved using a microfluidic brain interface and open-dura surgery, with the goal of abolishing neuronal Ca(2+) signaling in the visual cortex of wild-type mice and rodent models of fragile X syndrome (Fmr1 knockout [KO]). In wild-type and Fmr1 KO mice, the majority of baseline turnover was found to be activity-independent. Accordingly, the application of matrix metalloproteinase-9 inhibitors selectively restored the abnormal spine dynamics observed in Fmr1 KO mice, without affecting the intrinsic dynamics of spine turnover in wild-type mice. Such findings indicate that the baseline turnover of dendritic spines is mediated by activity-independent intrinsic dynamics. Furthermore, these results suggest that the targeting of abnormal intrinsic dynamics might pose a novel therapy for ASD.
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13. Oberman LM, Ifert-Miller F, Najib U, Bashir S, Heydrich JG, Picker J, Rotenberg A, Pascual-Leone A. {{Abnormal Mechanisms of Plasticity and Metaplasticity in Autism Spectrum Disorders and Fragile X Syndrome}}. {Journal of child and adolescent psychopharmacology}. 2016 May 24.
OBJECTIVES: Multiple lines of evidence from genetic linkage studies to animal models implicate aberrant cortical plasticity and metaplasticity in the pathophysiology of autism spectrum disorder (ASD) and fragile X syndrome (FXS). However, direct experimental evidence of these alterations in humans with these disorders is scarce. Transcranial magnetic stimulation (TMS) is a noninvasive tool for probing mechanisms of plasticity and metaplasticity in vivo, in humans. The aim of the current study was to examine mechanisms of plasticity and metaplasticity in humans with ASD and FXS. We employed a repetitive TMS protocol developed specifically to probe cortical plasticity, namely continuous theta burst stimulation (cTBS). METHODS: We applied a 40-second train of cTBS to primary motor cortex (M1) to healthy control participants and individuals with ASD or FXS, and we measured the cTBS-induced modulation in motor-evoked potentials (MEPs) in a contralateral intrinsic hand muscle. Each participant completed two sessions of the same protocol on two consecutive days. The degree of modulation in MEPs after cTBS on the first day was evaluated as a putative index of cortical plasticity. Examination of the changes in the effects of cTBS on the second day, as conditioned by the effects on the first day, provided an index of metaplasticity, or the propensity of a given cortical region to undergo plastic change based on its recent history. RESULTS: After a 40-second cTBS train, individuals with ASD show a significantly longer duration of suppression in MEP amplitude as compared with healthy controls, whereas individuals with FXS show a significantly shorter duration. After a second train of cTBS, 24 hours later, the ASD group was indistinguishable from the control group, and while in the FXS group MEPs were paradoxically facilitated by cTBS. CONCLUSION: These findings offer insights into the pathophysiology of ASD and FXS, specifically providing direct experimental evidence that humans with these disorders show distinct alterations in plasticity and metaplasticity, consistent with the findings in animal models. If confirmed in larger test-retest studies, repeated TMS measures of plasticity and metaplasticity may provide a valuable physiologic phenotype for ASD and FXS.
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14. Pickard KE, Kilgore AN, Ingersoll BR. {{Using Community Partnerships to Better Understand the Barriers to Using an Evidence-Based, Parent-Mediated Intervention for Autism Spectrum Disorder in a Medicaid System}}. {American journal of community psychology}. 2016 May 19.
Service use disparities have been noted to impede under-resourced families’ ability to access high-quality services for their child with autism spectrum disorder (ASD). These disparities are particularly relevant for parent-mediated interventions and may suggest a lack of fit between these interventions and the needs of under-resourced community settings. This study used Roger’s Diffusion of Innovations theory to guide community partnerships aimed at understanding the perceived compatibility, complexity, and relative advantage of using an evidence-based, parent-mediated intervention (Project ImPACT) within a Medicaid system. Three focus groups were conducted with 16 Medicaid-eligible parents, and three focus groups were conducted with 16 ASD providers operating within a Medicaid system. Across all groups, parents and providers reported general interest in using Project ImPACT. However, primary themes emerged regarding the need to (a) reduce the complexity of written materials; (b) allow for a more flexible program delivery; (c) ensure a strong parent-therapist alliance; (d) involve the extended family; and (e) help families practice the intervention within their preexisting routines. Results are discussed as they relate to the design and fit of evidence-based, parent-mediated interventions for under-resourced community settings.
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15. Potvin LA, Brown HK, Cobigo V. {{Social support received by women with intellectual and developmental disabilities during pregnancy and childbirth: An exploratory qualitative study}}. {Midwifery}. 2016 Jun;37:57-64.
OBJECTIVE: this study aims to contribute to the development of a conceptual framework that will inform maternity care improvements for expectant mothers with intellectual and developmental disabilities (IDD) by exploring the structure, functions, and perceived quality of social support received by women with IDD during pregnancy and childbirth. DESIGN/SETTING: using a grounded theory approach, we conducted an exploratory study set in Ontario, Canada in 2015. PARTICIPANTS: the sample included four adult women with IDD who had given birth in the last five years. MEASUREMENTS: data were collected using semi-structured interviews. FINDINGS: the structure of social support received by women with IDD consisted of both formal and informal sources, but few or no friendships. Women with IDD reported high levels of informational and instrumental support and low levels of emotional support and social companionship. However, a high level of available support was not always perceived as beneficial. Emergent core categories suggest that social support is perceived as most effective when three conditions are met: (1) support is accessible, (2) support is provided by individuals expressing positive attitudes towards the pregnancy, and (3) autonomy is valued. KEY CONCLUSIONS AND IMPLICATIONS FOR PRACTICE: our study confirms and identifies important gaps in the social support received by expectant mothers with IDD. Women with IDD currently lack accessible informational support, emotional support, and social companionship during pregnancy and childbirth. Additional findings regarding the structure and functions of social support are presented, and a preliminary conceptual framework of effective social support during pregnancy and childbirth, as perceived by women with IDD is also proposed. Findings suggest that increasing support accessibility should be a social and clinical priority; however, maternity care providers should be aware of stigmatizing attitudes and respect the autonomy of pregnant women with IDD as they prepare for motherhood.
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16. Tavares PP, Mouga SS, Oliveira GG, Castelo-Branco M. {{Preserved face inversion effects in adults with autism spectrum disorder: an event-related potential study}}. {Neuroreport}. 2016 May 25;27(8):587-92.
Individuals with autism spectrum disorder (ASD) are impaired in face recognition and emotional expression identification. According to current models, there are at least three levels of face processing: first order (two eyes, above a nose, which is above a mouth), second order (the relative distance between features), and holistic (ability to recognize as faces images that lack distinctive facial features). Some studies have reported deficits in configural and holistic processing in individuals with ASD. We investigated the neural correlates of these phenomena by measuring event-related potentials in high-functioning adults with ASD and healthy controls, during a face decision task, using a comprehensive set of photographic, schematic and Mooney upright and inverted faces, and scrambled images. Behaviorally, ASD and healthy controls were performance matched. At the electrophysiological level, individuals with ASD showed a bilateral N170 inversion effect in latency and left lateralized in amplitude for photographic faces, with bilaterally longer latencies and left higher amplitudes (more negative) N170 for inverted than upright photographic faces, and a right lateralized N170 inversion effect in latency for schematic faces. We conclude that under performance-matched conditions, adults with ASD show preserved N170 inversion effects and associated sparing of facial configural processing. An oral presentation of this work can be consulted using the following link, Supplemental digital content 1, http://links.lww.com/WNR/A382.
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17. Tian Y, Wang L, Jia M, Lu T, Ruan Y, Wu Z, Wang L, Liu J, Zhang D. {{Association of oligodendrocytes differentiation regulator gene DUSP15 with autism}}. {The world journal of biological psychiatry : the official journal of the World Federation of Societies of Biological Psychiatry}. 2016 May 25:1-8.
OBJECTIVES: Autism is a pervasive neurodevelopmental disorder with high heritability. Genetic factors play crucial roles in the aetiology of autism. Dual specificity phosphatase 15 (DUSP15) has been recognised as a key regulator gene for oligodendrocytes differentiation. A previous study detected one de novo missense variant (p.Thr107Met) with probable deleterious function in exon 6 of DUSP15 among patients with autism. Therefore, we sequenced this mutation in autistic children and performed an association analysis between DUSP15 polymorphisms and autism. METHODS: We performed a case-control study between 255 children affected with autism and 427 healthy controls. Four tag-single nucleotide polymorphisms (SNPs) were selected. These SNPs and the previously reported mutation in exon 6 of DUSP15 were genotyped via Sanger sequencing. RESULTS: Our results showed that rs3746599 was significantly associated with autism under allelic, additive and dominant models, respectively (chi2 = 9.699, P = 0.0018; chi2 = 16.224, P = 0.001; chi2 = 7.198, P = 0.007). The association remained significant after Bonferroni correction and permutation tests (n = 10,000). We did not detect the missense variant p.Thr107Met reported in previous studies. However, a de novo missense variant of DUSP15 (p.Ala56Thr) with a probable disease-causing effect was detected in one autistic child while absent in healthy controls. CONCLUSIONS: Our findings initially suggest that DUSP15 might be a susceptibility gene for autism in Chinese Han population.
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18. Tsai YP, Tung LC, Lee YC, Wang YL, Yen YS, Chen KL. {{Selecting score types for longitudinal evaluations: the responsiveness of the Comprehensive Developmental Inventory for Infants and Toddlers in children with developmental disabilities}}. {Neuropsychiatric disease and treatment}. 2016;12:1103-9.
OBJECTIVE: The objective of this study was to examine the responsiveness of the Comprehensive Developmental Inventory for Infants and Toddlers (CDIIT) in children with developmental disabilities (DD). METHODS: The responsiveness of a measure is its ability to detect change over time, and it is fundamental to an outcome measure for detecting changes over time. We compared the responsiveness of four types of scores (ie, raw scores, developmental ages [DAs], percentile ranks [PRs], and developmental quotients [DQs]) in the five subtests of the CDIIT. The CDIIT was administrated three times at intervals of 3 months on 32 children with DD aged between 5 months and 64 months (mean =30.6, standard deviation [SD] =17.8). The CDIIT is a pediatric norm-referenced assessment commonly used for clinical diagnosis of developmental delays in five developmental areas: cognition, language, motor, social, and self-care skills. The responsiveness was analyzed using three methods: effect size, standardized response mean, and paired t-test. RESULTS: The effect size results showed that at the 3-month and 6-month follow-ups, responsiveness was small or moderate in the raw scores and DAs of most of the subtest scores of the CDIIT, but the level of responsiveness varied in the PRs and DQs. The standardized response mean results of the 3-month and 6-month follow-ups showed that most of the subtest scores of the CDIIT had respectively moderate and large responsiveness in raw scores and DAs, but the responsiveness varied (from no to large) in PRs and DQs. CONCLUSION: The findings generally support the use of the CDIIT as an outcome measure. We also suggest using the raw scores and DAs when using a norm-referenced pediatric developmental assessment to evaluate developmental changes and program effectiveness in children with DD.
