1. Baker-Ericzen MJ, Fitch MA, Kinnear M, Jenkins MM, Twamley EW, Smith L, Montano G, Feder J, Crooke PJ, Winner MG, Leon J. {{Development of the Supported Employment, Comprehensive Cognitive Enhancement, and Social Skills program for adults on the autism spectrum: Results of initial study}}. {Autism}. 2017: 1362361317724294.
The population of adults on the autism spectrum continues to increase, and vocational outcomes are particularly poor. Longitudinal studies of adults with autism spectrum and without intellectual disability have shown consistent and persistent deficits across cognitive, social, and vocational domains, indicating a need for effective treatments of functional disabilities as each impact employment. This initial pilot study is an open trial investigation of the feasibility, acceptability, and initial estimates of outcomes for the newly developed Supported Employment, Comprehensive Cognitive Enhancement, and Social Skills intervention, a manualized « soft skills » curriculum, to enhance both cognitive and social development in adults with autism spectrum. A total of eight adults with autism spectrum, without intellectual disability (78% males), participated in the study. Results support the original hypothesis that adults with autism spectrum can improve both cognitive (i.e. executive functioning) and social cognitive (i.e. social thinking and social communication) abilities. Further Supported Employment, Comprehensive Cognitive Enhancement, and Social Skills was found to be feasible, acceptable, and highly satisfactory for participants and parents. Employment rates more than doubled post-intervention, with an increase from 22% to 56% of participants employed. Conclusion is that Supported Employment, Comprehensive Cognitive Enhancement, and Social Skills has promise as an intervention that can be easily embedded into exiting supported employment vocational training programs to improve cognitive, social, and vocational outcomes.
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2. Cetin I, Tezdig I, Tarakcioglu MC, Kadak MT, Demirel OF, Ozer OF, Erdogan F, Dogangun B. {{Do Low Serum UCH-L1 and TDP-43 Levels Indicate Disturbed Ubiquitin-Proteosome System in Autism Spectrum Disorder?}}. {Noro Psikiyatr Ars}. 2017; 54(3): 267-71.
INTRODUCTION: The mechanism of ubiquitination-related abnormalities causing neural development problems is still unclear. We examined the association between autism and serum transactive response DNA-binding protein-43 (TDP-43) and ubiquitin c-terminal hydrolase-L1 (UCH-L1) levels, both of which are members of the ubiquitin-proteosome system. METHODS: We measured serum levels of TDP-43 and UCH-L1 in 24 children with autism and 24 healthy children. Childhood Autism Rating Scale (CARS) was used to assess symptom severity at admission. RESULTS: The mean serum TDP-43 and UCH-L1 levels in children with autism spectrum disorder (ASD) were found to decrease compared to healthy controls (p<0.001, 506.21+/-780.97 ng/L and 1245.80+/-996.76 ng/L, respectively; 3.08+/-5.44 ng/mL and 8.64+/-6.67 ng/mL, respectively). A positive correlation between serum TDP-43 levels and UCH-L1 levels was found in the ASD group (r=0.947, n=24, p<0.001). The CARS score of children with ASD was 48.91 points (standard deviation [SD]: 5.82). CONCLUSION: Low serum levels of UCH-L1 and TDP-43 may reflect disturbed ubiquitination in autism. Lien vers le texte intégral (Open Access ou abonnement)
3. Dimitrova N, Ozcaliskan S, Adamson LB. {{Correction to: Parents’ Translations of Child Gesture Facilitate Word Learning in Children with Autism, Down Syndrome and Typical Development}}. {J Autism Dev Disord}. 2017.
The original version of the article unfortunately contained mistake in the « Methods/Participants » section (p. 224) as « [M TD = 168.26 (SD = 125.18) vs. M AU = 172.91 (SD = 195.88) vs. M DS = 145.43 (SD = 88.78); Kruskal-Wallis, chi 2(2) = 2.42, p = .30], and for word types [M TD = 28.43 (SD = 26.89) vs. M AU = 39.65 (SD = 49.07) vs. M DS = 18.35 (SD = 22.78); chi 2(2) = 3.15, p = .21] ». The correct text is given below: « [M TD = 51.91 (SD = 59.68) vs. M AU = 74.43 (SD = 116.01) vs. M DS = 25.26 (SD = 39.39); Kruskal-Wallis, chi 2(2) = 3.39, p = .18], and for word types [M TD = 18.48 (SD = 20.51) vs. M AU = 24.74 (SD = 32.98) vs. M DS = 11.22 (SD = 18.87); chi 2(2) = 3.58, p = .17] »..
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4. Elias R, Muskett AE, White SW. {{Educator perspectives on the postsecondary transition difficulties of students with autism}}. {Autism}. 2017: 1362361317726246.
Addressing the challenges of adolescents and emerging adults with autism spectrum disorder is crucial to improving the outcomes of these students in the postsecondary setting. Although secondary and postsecondary educators and staff are critical to helping these students access services, there has been little investigation into the perspectives of this stakeholder group, with respect to the needs of postsecondary students with autism spectrum disorder. A series of focus groups was conducted with secondary and postsecondary educators to understand educator perspectives related to the challenges faced by postsecondary students with autism spectrum disorder. Competence, autonomy and independence, and the development and sustainment of interpersonal relationships emerged as primary areas of difficulty and corresponding need. Results suggest that targeted interventions addressing these areas should be implemented, prior to and during enrollment in a postsecondary setting, to facilitate transition in a comprehensive manner.
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5. Gangi DN, Usher LV, Messinger DS. {{An exploration of common dopaminergic variants and behavior problems in siblings at high risk for autism spectrum disorder}}. {Infant Behav Dev}. 2017; 49: 267-71.
Younger siblings of children with ASD often exhibit elevated internalizing and externalizing problems. We investigated common dopaminergic variants (DRD4 and DRD2) in relation to behavior problems at 36 months. Genotypes linked to less efficient dopaminergic functioning were associated with higher internalizing problems in high-risk siblings.
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6. Heinsfeld AS, Franco AR, Craddock RC, Buchweitz A, Meneguzzi F. {{Identification of autism spectrum disorder using deep learning and the ABIDE dataset}}. {Neuroimage Clin}. 2018; 17: 16-23.
The goal of the present study was to apply deep learning algorithms to identify autism spectrum disorder (ASD) patients from large brain imaging dataset, based solely on the patients brain activation patterns. We investigated ASD patients brain imaging data from a world-wide multi-site database known as ABIDE (Autism Brain Imaging Data Exchange). ASD is a brain-based disorder characterized by social deficits and repetitive behaviors. According to recent Centers for Disease Control data, ASD affects one in 68 children in the United States. We investigated patterns of functional connectivity that objectively identify ASD participants from functional brain imaging data, and attempted to unveil the neural patterns that emerged from the classification. The results improved the state-of-the-art by achieving 70% accuracy in identification of ASD versus control patients in the dataset. The patterns that emerged from the classification show an anticorrelation of brain function between anterior and posterior areas of the brain; the anticorrelation corroborates current empirical evidence of anterior-posterior disruption in brain connectivity in ASD. We present the results and identify the areas of the brain that contributed most to differentiating ASD from typically developing controls as per our deep learning model.
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7. Kaale A, Smith L, Nordahl-Hansen A, Fagerland MW, Kasari C. {{Early interaction in autism spectrum disorder: Mothers’ and children’s behaviours during joint engagement}}. {Child Care Health Dev}. 2017.
BACKGROUND: More knowledge about the interaction between young children with autism spectrum disorder and their parents is one way to improve intervention. This study aims to investigate the behaviours of mothers and children with autism spectrum disorder during joint engagement, with a focus on pacing or rate (i.e., incidences per minute) of their behaviours when being in this state. METHOD: Video recordings of 10 min of free-play between 58 children (2-4 years) diagnosed with childhood autism and their mothers were used to examine rate of mothers’ and children’s behaviours (i.e., toy introduction, toy expansion, positive affect, and language) during joint engagement, the association between rate of mothers and children’s behaviours, the relation between rate of mothers’ behaviours and time in joint engagement, and how child factors might be associated with the latter. RESULTS: Mothers(m) and children(c) showed similar rate of positive affect (Mm = 0.6/Mc = 0.5) and toy expansion (Mm = 0.7/Mc = 0.7) per minute, whereas mothers talked almost three times more than their children (Mm = 10.2/Mc = 3.8). In contrast, mothers introduced fewer toys compared to the children (Mm = 0.7/Mc = 1.2). Rate of mothers’ toy introduction, toy expansion, and positive affect was inversely related to time in joint engagement (Regression coefficient = -70.7 to -48.5, p = .006 to .024). Rates of mothers’ and children’s behaviours were associated (Spearman rank order coefficient = .53 to .29, p < .001 to .03), but neither rate of children's behaviours nor mental age was associated with the observed relation between rate of these maternal behaviours and time in joint engagement. CONCLUSION: Time in joint engagement was related to rate of mothers' behaviours and children's mental age but not to rate of children's behaviours in this study. Thus, intervention teaching parents of young children with autism strategies designed to increase time in joint engagement may be vital. The complex nature of the interaction between mother and child behaviours in promoting joint engagement warrants further elucidation. Key messages Increased understanding of parent and child behaviours during joint engagement is important for identification of targets for parent-mediated early interventions in autism spectrum disorder. Time in joint engagement was related to rate of mothers' behaviours and children's mental age but not to rate of children's behaviours in this study. Higher rate of some maternal behaviours was inversely related to time in joint engagement, but it is not clear yet if higher rate may facilitate or disrupt joint engagement. The complex nature of the interaction between mother and child behaviours in promoting joint engagement warrants further elucidation. Lien vers le texte intégral (Open Access ou abonnement)
8. Kirkendall N, Palokas M. {{Behavioral and/or pharmacological interventions for managing sleep disturbances in children with autism spectrum disorder: an umbrella review protocol}}. {JBI Database System Rev Implement Rep}. 2017; 15(10): 2495-501.
REVIEW QUESTION: What are effective behavioral interventions and/or pharmacological methods for managing sleep disturbances in children with autism spectrum disorder?
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9. Laxman DJ, Greenberg JS, DaWalt LS, Hong J, Aman MG, Mailick M. {{Medication use by adolescents and adults with fragile X syndrome}}. {J Intellect Disabil Res}. 2017.
BACKGROUND: The behavioural challenges and medical conditions associated with fragile X syndrome (FXS) can lead to increased need for medications. METHOD: This longitudinal study examined the use of prescription medications for psychotropic and non-psychotropic purposes by adolescents and adults with FXS drawn from a North American community sample (N = 105). Odds and probabilities of continuing or discontinuing medication were calculated. Predictors of medication use were calculated. RESULTS: More than two-thirds took psychotropic medication, and about one-quarter took non-psychotropic medication. Over a 3-year period, those who initially took prescription medications were considerably more likely to remain on medications than to stop. Individuals with more autism symptoms, more behavioural problems, a mental health diagnosis, and greater family income were significantly more likely to use psychotropic medication 3 years later. Individuals who had more health problems, a mental health diagnosis, and were female were more likely to use non-psychotropic medication over this time period. CONCLUSIONS: Findings highlight the elevated and ongoing use of medication by individuals with FXS. Implications for social and behavioural research on FXS are discussed.
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10. Lefevre A, Mottolese R, Redoute J, Costes N, Le Bars D, Geoffray MM, Leboyer M, Sirigu A. {{Oxytocin Fails to Recruit Serotonergic Neurotransmission in the Autistic Brain}}. {Cereb Cortex}. 2017: 1-10.
Oxytocin (OT), a neuropeptide involved in affiliation has been shown to enhance social skills in patients with autism spectrum disorders (ASD). Nevertheless, OT improvements seem ephemeral. Animal research has demonstrated OT action on serotonin (5-HT), an interaction that we also found in the healthy human brain. Whether such synaptic interplay also occurs in ASD patients is unknown. To address this issue, we mapped the effects of intranasal OT on 5-HT in 18 patients with ASD and 24 healthy controls (HC) in a double blind, placebo controlled, within subject PET-scan experiment. Each participant underwent two scans: baseline and spray (OT or placebo). Using the radiotracer [18 F]MPPF, marking the 5-HT 1A receptor (5-HT1AR), we measured MPPF-Binding Potential (BP) as an index of OT-induced serotonin functional modulation. At baseline ASD patients did not differ from controls for 5-HT1AR concentration and distribution. However, while OT significantly increased MPPF BP in several brain regions of HC, no changes were observed in the ASD group. Serotonin serum concentration analysis corroborated these results. Our findings suggest a disturbed OT-serotonin interaction in autism. This may limit the potential benefits of OT in these patients and open the ways to investigate combined OT-serotonin treatments.
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11. Lesage C, Coupier I, Guillot B. {{A family with two cases of melanocytic tumors and fragile X syndrome}}. {Melanoma Res}. 2017; 27(6): 645-8.
Fragile X syndrome (FXS), a leading cause of inherited intellectual disability, most commonly results from an expansion of the CGG trinucleotide repeat in the fragile X mental retardation 1 (FMR1) gene to more than 200 copies (full mutation). The FXS phenotype differs by sex and is associated with intellectual and cognitive impairment, characteristic physical features, epilepsy, and/or behavioral challenges including autism spectrum disorder. In this patient population, tumors involving blood cells, digestive organs, the central nervous system, and testes have been described, but melanocytic tumors have not been reported. Here, we describe two maternal cousins with FXS, one of whom has melanoma and the other has atypical nevus syndrome. We discuss possible mechanisms leading to this unusual or possibly coincidental association and the difficulties in the optimal treatment of FXS patients.
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12. Madipakkam AR, Rothkirch M, Dziobek I, Sterzer P. {{Unconscious avoidance of eye contact in autism spectrum disorder}}. {Sci Rep}. 2017; 7(1): 13378.
Atypical responses to direct gaze are one of the most characteristic hallmarks of autism spectrum disorder (ASD). The cause and mechanism underlying this phenomenon, however, have remained unknown. Here we investigated whether the atypical responses to eye gaze in autism spectrum disorder is dependent on the conscious perception of others’ faces. Face stimuli with direct and averted gaze were rendered invisible by interocular suppression and eye movements were recorded from participants with ASD and an age and sex matched control group. Despite complete unawareness of the stimuli, the two groups differed significantly in their eye movements to the face stimuli. In contrast to the significant positive saccadic index observed in the TD group, indicating an unconscious preference to the face with direct gaze, the ASD group had no such preference towards direct gaze and instead showed a tendency to prefer the face with averted gaze, suggesting an unconscious avoidance of eye contact. These results provide the first evidence that the atypical response to eye contact in ASD is an unconscious and involuntary response. They provide a better understanding of the mechanism of gaze avoidance in autism and might lead to new diagnostic and therapeutic interventions.
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13. Muscatello RA, Corbett BA. {{Comparing the effects of age, pubertal development, and symptom profile on cortisol rhythm in children and adolescents with autism spectrum disorder}}. {Autism Res}. 2017.
Previous studies in children with autism spectrum disorder (ASD) have shown elevated evening cortisol; however, few studies have examined diurnal rhythm in adolescents with ASD. Adolescence is a time of significant physical and psychological change, and dysregulation of the hypothalamic-pituitary-adrenal axis may put adolescents with ASD at increased risk for internalizing disorders, such as anxiety and depression. The extent to which cortisol levels are associated with age, puberty and symptom profile was examined in 113 youth (ages 7-17) with ASD and typical development. Salivary samples were collected over 3 days in the home, 4 times per day (waking, 30-min post-waking, afternoon, evening). Results showed youth with ASD had higher evening cortisol and a blunted diurnal slope relative to TD youth. Pubertal development and age were significant predictors of evening cortisol, and adolescents with ASD had higher evening cortisol levels compared to children with ASD. The study extends previous reports of elevated evening cortisol in children with ASD to reveal high levels in adolescence as well. Adolescents with ASD also show a significantly blunted diurnal slope, which may be associated with risk of internalizing symptoms. Findings suggest elevated evening cortisol persists across development in youth with ASD, thus emphasizing a need to identify potential negative effects of excess cortisol exposure on health in ASD individuals. LAY SUMMARY: Elevations in stress hormone, cortisol, during the evening may indicate increased stress from changes throughout the day in youth with autism spectrum disorder (ASD). The current study shows that age and pubertal development are also related to increases in evening cortisol, and this maladaptive elevation in cortisol in ASD is not going away with age. These cortisol elevations may also be associated with other psychological symptoms and warrant further investigation in adolescents with ASD. Autism Res 2017, 0: 000-000. (c) 2017 International Society for Autism Research, Wiley Periodicals, Inc.
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14. Noel JP, Lytle M, Cascio C, Wallace MT. {{Disrupted integration of exteroceptive and interoceptive signaling in autism spectrum disorder}}. {Autism Res}. 2017.
In addition to deficits in social communication, individuals diagnosed with Autism Spectrum Disorder (ASD) frequently exhibit changes in sensory and multisensory function. Recent evidence has focused on changes in audiovisual temporal processing, and has sought to relate these sensory-based changes to weaknesses in social communication. These changes in audiovisual temporal function manifest as differences in the temporal epoch or « window » within which paired auditory and visual stimuli are integrated or bound, with those with ASD exhibiting expanded audiovisual temporal binding windows (TBWs). However, it is unknown whether this impairment is unique to audiovisual pairings, perhaps because of their relevance for speech processing, or whether it generalizes across pairings in different sensory modalities. In addition to the exteroceptive senses, there has been growing interest in ASD research in interoception (e.g., the monitoring of respiration, heartbeat, hunger, etc.), as these internally directed sensory processes appear to be altered as well in autism. In the current study, we sought to examine both exteroception and interoception in individuals with ASD and a group of typically developing (TD) matched controls, with an emphasis on temporal perception of audiovisual (exteroceptive) and cardiovisual (interoceptive to exteroceptive) cues. Results replicate prior findings showing expanded audiovisual TBWs in ASD in comparison to TD. In addition, strikingly, cardiovisual TBWs were fourfold larger in ASD than in TD, suggesting a putative complete lack of cardiovisual temporal acuity in ASD individuals. Results are discussed in light of recent evidence indicating a reduced tendency to rely on sensory priors in ASD. Autism Res 2017, 0: 000-000. (c) 2017 International Society for Autism Research, Wiley Periodicals, Inc. LAY SUMMARY: Studies have shown that individuals with autism have difficulty in separating auditory and visual events in time. People with autism also weight sensory evidence originating from the external world and from their body differently. We measured simultaneity judgments regarding visual and auditory events and between visual and heartbeat events. Results suggest that while individuals with autism show unusual temporal function across the senses in a general manner, this deficit is greater when pairings bridged between the external world and the internal body.
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15. Padmanabhan A, Lynch CJ, Schaer M, Menon V. {{The Default Mode Network in Autism}}. {Biol Psychiatry Cogn Neurosci Neuroimaging}. 2017; 2(6): 476-86.
Autism spectrum disorder (ASD) is characterized by deficits in social communication and interaction. Since its discovery as a major functional brain system, the default mode network (DMN) has been implicated in a number of psychiatric disorders, including ASD. Here we review converging multimodal evidence for DMN dysfunction in the context of specific components of social cognitive dysfunction in ASD: ‘self-referential processing’ – the ability to process social information relative to oneself and ‘theory of mind’ or ‘mentalizing’ – the ability to infer the mental states such as beliefs, intentions, and emotions of others. We show that altered functional and structural organization of the DMN, and its atypical developmental trajectory, are prominent neurobiological features of ASD. We integrate findings on atypical cytoarchitectonic organization and imbalance in excitatory-inhibitory circuits, which alter local and global brain signaling, to scrutinize putative mechanisms underlying DMN dysfunction in ASD. Our synthesis of the extant literature suggests that aberrancies in key nodes of the DMN and their dynamic functional interactions contribute to atypical integration of information about the self in relation to ‘other’, as well as impairments in the ability to flexibly attend to socially relevant stimuli. We conclude by highlighting open questions for future research.
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16. Payakachat N, Tilford JM, Kuhlthau KA. {{Parent-Reported Use of Interventions by Toddlers and Preschoolers With Autism Spectrum Disorder}}. {Psychiatr Serv}. 2017: appips201600524.
OBJECTIVE: This study examined services used by young children with autism spectrum disorder (ASD) and factors associated with use. METHODS: A retrospective observational study was conducted with baseline data for toddlers (under age three) and preschoolers (three to less than six years) with ASD enrolled in the Autism Speaks Autism Treatment Network registry from 2008 to 2013 (N=2,804). Parents’ reports at enrollment of services received by children were documented. Factors associated with service use and with hours per week of services used were identified by multiple regression analyses. RESULTS: At baseline, 79% of children had received at least one service; 28% had received behavioral services. In the sample, less than 30% of children who received at least one service spent more than ten hours per week in any service use. Children who received services were more likely to be of white race and to have had an ASD diagnosis prior to registry enrollment. Age, previous ASD diagnosis, maternal education, and child’s IQ were significantly associated with the use of behavioral services; IQ was negatively associated with use. A consistent trend toward greater use of behavioral services was found over the study period. Factors associated with hours of any services used per week included age, gender, race, maternal education, and clinical characteristics. The predicted average weekly service hours for children with ASD across registry sites ranged from 3.1+/-1.0 to 9.5+/-2.1. CONCLUSIONS: Service use varied according to child, family, and system characteristics. More efforts should be focused on early intervention and on children with ASD who have low socioeconomic status and cognitive disability.
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17. Pisula E, Porebowicz-Dorsmann A. {{Family functioning, parenting stress and quality of life in mothers and fathers of Polish children with high functioning autism or Asperger syndrome}}. {PLoS One}. 2017; 12(10): e0186536.
The aim of the study was to investigate the perception of the family functioning in parents of children with autism spectrum disorders (ASD) with normal-range intelligence and the relationships between family functioning, parenting stress and quality of life. Dyads of parents of children with ASD without intellectual disability and parents of typically developing children (controls) completed a set of self-report questionnaires. Parents of children with ASD reported lower functioning of the family as a whole and their own functioning as family members; they exhibited higher levels of parenting stress and lower quality of life. Mothers of children with ASD experienced more stress in personal domain than fathers. Relationships between family functioning, parenting stress and quality of life have been established. There were also moderate to strong correlations in mother-father dyads between their assessments of family functioning, parenting stress and QoL in social relationships and environmental domains.
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18. Quezada A, Juarez-Ramirez R, Jimenez S, Noriega AR, Inzunza S, Garza AA. {{Usability Operations on Touch Mobile Devices for Users with Autism}}. {J Med Syst}. 2017; 41(11): 184.
The Autistic Spectrum Disorder is a cognitive disorder that affects the cognitive and motor skills; due that, users cannot perform digital and fine motor tasks. It is necessary to create software applications that adapt to the abilities of these users. In recent years has been an increase in the research of the use of technology to support autistic users to develop their communication skills and to improve learning. However, the applications’ usability for disable users is not assessed objectively as the existing models do not consider interaction operators for disable users. This article focuses on identifying the operations that can easily be performed by autistic users following the metrics of KML-GOMS, TLM and FLM. In addition, users of typical development were included in order to do a comparison between both types of users. The experiment was carried out using four applications designed for autistic users. Participants were subjects divided in two groups: level 1 and level 2 autistic users, and a group of users of typical development. During the experimentation, users performed a use case for each application; the time needed to perform each task was measured. Results show that the easiest operations for autistic users are K (Keystroke), D (Drag), Initial Act (I) and Tapping (T).
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19. Ruhela RK, Sarma P, Soni S, Prakash A, Medhi B. {{Congenital malformation and autism spectrum disorder: Insight from a rat model of autism spectrum disorder}}. {Indian J Pharmacol}. 2017; 49(3): 243-9.
AIMS AND OBJECTIVES: The primary aim was an evaluation of the pattern of gross congenital malformations in a rat model of autism spectrum disorder (ASD) and the secondary aim was characterization of the most common gross malformation observed. MATERIALS AND METHODS: In females, the late pro-oestrous phase was identified by vaginal smear cytology, and then, they were allowed to mate at 1:3 ratio (male: female). Pregnancy was confirmed by the presence of sperm plug in the vagina and presence of sperm in the vaginal smear. In the ASD group, ASD was induced by injecting valproic acid 600 mg/kg (i.p.) to pregnant female rats (n = 18) on day 12.5 (single injection). Only vehicle (normal saline) was given in the control group (n = 12). After delivery, pups were grossly observed for congenital malformations until the time of sacrifice (3 months) and different types of malformations and their frequency were noted and characterized. RESULTS: In the ASD group, congenital malformation was present in 69.9% of the pups, whereas in the control group, it was 0%. Male pups were most commonly affected (90% in males vs. only 39.72% in female pups). The tail deformity was the most common malformation found affecting 61.2% pups in the ASD group. Other malformations observed were dental malformation (3.82%), genital malformation (3.28%) and paw malformation (1.1%). Hind limb paralysis was observed in one pup. The tail anomalies were characterized as per gross appearance and location of the malformation. CONCLUSION: In this well-validated rat model of ASD, congenital malformation was quite common. It seems screening of congenital malformations should be an integral part of the management of ASD, or the case may be vice versa, i.e., in the case of a baby born with a congenital deformity, they should be screened for ASD.
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20. Sato W, Sawada R, Uono S, Yoshimura S, Kochiyama T, Kubota Y, Sakihama M, Toichi M. {{Impaired detection of happy facial expressions in autism}}. {Sci Rep}. 2017; 7(1): 13340.
The detection of emotional facial expressions plays an indispensable role in social interaction. Psychological studies have shown that typically developing (TD) individuals more rapidly detect emotional expressions than neutral expressions. However, it remains unclear whether individuals with autistic phenotypes, such as autism spectrum disorder (ASD) and high levels of autistic traits (ATs), are impaired in this ability. We examined this by comparing TD and ASD individuals in Experiment 1 and individuals with low and high ATs in Experiment 2 using the visual search paradigm. Participants detected normal facial expressions of anger and happiness and their anti-expressions within crowds of neutral expressions. In Experiment 1, reaction times were shorter for normal angry expressions than for anti-expressions in both TD and ASD groups. This was also the case for normal happy expressions vs. anti-expressions in the TD group but not in the ASD group. Similarly, in Experiment 2, the detection of normal vs. anti-expressions was faster for angry expressions in both groups and for happy expressions in the low, but not high, ATs group. These results suggest that the detection of happy facial expressions is impaired in individuals with ASD and high ATs, which may contribute to their difficulty in creating and maintaining affiliative social relationships.
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21. Smith-Hicks CL, Gupta S, Ewen JB, Hong M, Kratz L, Kelley R, Tierney E, Vaurio R, Bibat G, Sanyal A, Yenokyan G, Brereton N, Johnston MV, Naidu S. {{Randomized open-label trial of dextromethorphan in Rett syndrome}}. {Neurology}. 2017; 89(16): 1684-90.
OBJECTIVE: To determine safety and perform a preliminary assessment of dose-dependent efficacy of dextromethorphan in normalizing electrographic spikes, clinical seizures, and behavioral and cognitive functions in girls with Rett syndrome. METHODS: We used a prospective randomized, open-label trial in fast metabolizers of dextromethorphan to examine the effect of dextromethorphan on core clinical features of Rett syndrome. Interictal spike activity and clinical seizures were determined using EEG and parent reporting. Cognitive data were obtained using the Mullen Scales of Early Learning and Vineland Adaptive Behavior Scales, while behavioral data were obtained from parent-completed checklists, the Aberrant Behavior Checklist-Community Version, and the Screen for Social Interaction. Anthropometric data were obtained according to the National Health and Nutrition Examination Survey. The Rett Syndrome Severity Scale provided a clinical global impression of the effect of dextromethorphan on clinical severity. RESULTS: Dextromethorphan is safe for use in 3- to 15-year-old girls with Rett syndrome. Thirty-five girls were treated with 1 of 3 doses of dextromethorphan over a period of 6 months. Statistically significant dose-dependent improvements were seen in clinical seizures, receptive language, and behavioral hyperactivity. There was no significant improvement in global clinical severity as measured by the Rett Syndrome Severity Scale. CONCLUSIONS: Dextromethorphan is a potent noncompetitive antagonist of the NMDA receptor channel that is safe for use in young girls with Rett syndrome. Preliminary evidence suggests that dextromethorphan may improve some core features of Rett syndrome. CLASSIFICATION OF EVIDENCE: This study provides Class IV evidence that dextromethorphan at various doses does not change EEG spike counts over 6 months, though precision was limited to exclude an important effect.
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22. Stone WL, Los E. {{Fragile X Syndrome}}. 2017.
Fragile X syndrome (FXS), also called Martin-Bell syndrome, is a non-Mendelian trinucleotide repeat disorder. FXS is the most prevalent inherited cause of mild to severe intellectual disability and the most common monogenic cause of autism spectrum disorder (ASD). It accounts for about one-half of cases of X-linked mental retardation and is the most common cause of mental impairment after trisomy 21 physical features include a long and narrow face with a prominent jaw, flexible fingers, large ears, and enlarged testicles in males. These features usually become more apparent in older children. About a third of these children have features of autism and delayed speech that are present from an early age. Hyperactivity and seizures are common. FXS is indirectly caused by expansion of the cysteine-guanine-guanine (CGG) triplet repeat within the Fragile X mental retardation one gene (FMR1) located on the X chromosome. This CGG expansion silences FMR1 expression resulting in an abolished, or greatly diminished, expression of the fragile X mental retardation protein (FMRP). FMRP is needed for the development of neuronal connections (synapses) and some ovarian functions. The lack of FMRP is the direct cause of FXS. Diagnosis is by molecular genetic testing which determines the number of CGG repeats in the FMR1 gene. Normally, it is between five and 40 repeats. Individuals with 55 to 200 repeats have an FMR1 gene premutation (PM) and usually (but not always) have a normal intellect. Individuals with greater than 200 CGG repeats have a full mutation (FM) for FXS. Testing for PM carriers (by an FMR1 DNA test) allows for genetic counseling. Prenatal testing for FXS is an option often provided to women with a premutation or a full mutation.
23. Strang JF, Jarin J, Call D, Clark B, Wallace GL, Anthony LG, Kenworthy L, Gomez-Lobo V. {{Transgender Youth Fertility Attitudes Questionnaire: Measure Development in Nonautistic and Autistic Transgender Youth and Their Parents}}. {J Adolesc Health}. 2017.
PURPOSE: The objective of this study was to assess transgender youth and parent attitudes regarding (1) the potential impact of gender-affirming hormone therapy on fertility and (2) fertility preservation (FP) options. METHODS: The Transgender Youth Fertility Attitudes Questionnaire was developed through a multistage participatory process with gender specialists and key stakeholders (transgender youth and their parents, N = 35). As up to 25% of youth gender referrals have co-occurring autism, measure development included a well-characterized supplementary sample of autistic transgender youth to maximize the applicability of the questionnaire. Following its development and refinement, the Transgender Youth Fertility Attitudes Questionnaire was pilot tested with transgender youth (nonautistic and autistic) and their parents (N = 51). RESULTS: The participatory process produced parallel child and parent questionnaires addressing fertility and FP knowledge and attitudes. In the pilot trial, youth and parents expressed generally similar attitudes about fertility and FP. Most youth (92%) reported learning about gender-affirming hormone therapy-related fertility issues online. Although many transgender youth endorsed a wish to parent children at some point, few (24%) expressed desire to have their own biological child. However, many youth wondered, or did not know, if their feelings about having a biological child might change in the future. CONCLUSIONS: This study presents a novel procedure for developing instruments for use with transgender youth. Although a majority of transgender youth in this study were uninterested in using FP, extending exploration of this topic with young people may be useful given findings of their openness to the idea that fertility attitudes may change in adulthood.
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24. Visser L, Vlaskamp C, Emde C, Ruiter SAJ, Timmerman ME. {{Difference or delay? A comparison of Bayley-III Cognition item scores of young children with and without developmental disabilities}}. {Res Dev Disabil}. 2017; 71: 109-19.
The « difference or delay paradigm » focuses on the question of whether children with developmental disabilities (DD) develop in a way that is only delayed, compared to typically developing children, or also qualitatively different. The current study aimed to examine whether qualitative differences exist in cognitive development of young children with and without DD on the basis of item scores on the Dutch Bayley-III Cognition scale. Differential item functioning was identified for 15 of the 91 items. The presence of DD was related to a higher number of Guttman errors, hinting at more deviation in the order of skill development. An interaction between group (i.e., with or without DD) and developmental quotient appeared to predict the number of Guttman errors. DD was related to a higher number of Guttman errors for the whole range of developmental quotients; children with DD with a small developmental quotient had the highest number. Combined, the results mean that qualitative differences in development are not to be excluded, especially in cases of severe developmental disabilities. When using the Bayley-III in daily practice, the possibility needs to be taken into account that the instruments’ assumption of a fixed order in skill development does not hold.
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25. Weckstein SM, Weckstein EJ, Parker CD, Westerman MW. {{A Retrospective Chart Analysis with Follow-Up of Cogmed Working Memory Training in Children and Adolescents with Autism Spectrum Disorder}}. {Med Sci Monit Basic Res}. 2017; 23: 336-43.
BACKGROUND This case study was undertaken in an effort to assess whether children/adolescents with Autism Spectrum Disorder (ASD) experience improvement in comorbid ADHD following Cogmed Working Memory Training (CWMT). This treatment intervention has been shown to improve ADHD symptoms in children and adolescents; however, there have been no studies on its use with individuals with ASD. MATERIAL AND METHODS CWMT is a computer-based program that consists of 13 auditory, visual, visual spatial, and combined exercises that are practiced for 45 minutes a day, 5 days a week, for 5 weeks. Fifteen children/adolescents between the ages of 9 and 19 years with ASD and comorbid ADHD undertook a trial of CWMT. A 1-month follow-up and 2 longitudinal follow-ups were implemented. RESULTS The retrospective chart analysis and follow-up demonstrated improvement in attention and focus, impulsivity, emotional reactivity, and academic achievement in individuals with ASD and comorbid ADHD. Those benefits remained the same or increased over time. A number of participants also had benefits in their social interaction/social awareness. CONCLUSIONS CWMT has the potential to be an effective treatment intervention for children and adolescents with ASD because of its benign computer-based nature that seems to engage the unique learning style of this population. The authors hope that this paper will encourage others to study the ability of CWMT to be utilized in improving ADHD symptoms as well as social interaction/social awareness in individuals with ASD.
