Pub Date : 2018-03-14eCollection Date: 2018-01-01DOI: 10.1155/2018/6873412
Shota Mitsuhashi, Shogo Hirata, Hideyuki Okuzumi
This study was conducted to investigate the relation between the effect of articulatory suppression on the serial recall and severity of social impairments among children with autism spectrum disorders (ASD). The Luria hand test (LHT) was administered to evaluate the capacity for serial recall in 13 children with ASD. The LHT was administered under three conditions: control, under articulatory suppression, and under spatial suppression. Performance on the LHT of children with ASD was significantly lower in terms of both articulatory suppression and the spatial suppression condition. Moreover, the severity of social impairment in children with ASD was related to individual differences of effects of articulatory suppression on the LHT, but not with effects of spatial suppression. These results support the notion that dialogic inner speech which mediates complex cognitive abilities has inherently social origins.
{"title":"Role of Inner Speech on Serial Recall in Children with ASD: A Pilot Study Using the Luria Hand Test.","authors":"Shota Mitsuhashi, Shogo Hirata, Hideyuki Okuzumi","doi":"10.1155/2018/6873412","DOIUrl":"10.1155/2018/6873412","url":null,"abstract":"<p><p>This study was conducted to investigate the relation between the effect of articulatory suppression on the serial recall and severity of social impairments among children with autism spectrum disorders (ASD). The Luria hand test (LHT) was administered to evaluate the capacity for serial recall in 13 children with ASD. The LHT was administered under three conditions: control, under articulatory suppression, and under spatial suppression. Performance on the LHT of children with ASD was significantly lower in terms of both articulatory suppression and the spatial suppression condition. Moreover, the severity of social impairment in children with ASD was related to individual differences of effects of articulatory suppression on the LHT, but not with effects of spatial suppression. These results support the notion that dialogic inner speech which mediates complex cognitive abilities has inherently social origins.</p>","PeriodicalId":8659,"journal":{"name":"Autism Research and Treatment","volume":"2018 ","pages":"6873412"},"PeriodicalIF":0.0,"publicationDate":"2018-03-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5872676/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"36075207","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Visual evoked potential (VEP) is a technique used to assess the brain's electrical response to visual stimuli. The aims of this study were to examine neural transmission within the visual pathway through VEP testing in preschool children with autism spectrum disorder (ASD) and compare it to age-matched controls, as well as search for a correlation between the VEP parameters and the symptoms of ASD. Participants were composed of ASD children (9 males) and typically developing children (8 males and 4 females), aged between 3 and 5 years. Checkerboards were chosen as the pattern-reversal VEP. The clinical severity of ASD was assessed using the Autism Treatment Evaluation Checklist (ATEC) and the Vineland Adaptive Behavior Scales 2nd edition (VABS-II). Our findings demonstrated that children with ASD had significantly longer N145 latency compared to the controls. A longer N145 latency correlated with a higher score of ATEC within the sensory/cognitive awareness subdomain. In addition, a slower N145 response was also associated with a lower VABS-II score within the socialization domain. The correlation between longer VEP latency and abnormal behaviors in children with ASD suggests a delayed neural communication within other neural circuits, apart from the visual pathway. These lines of evidence support the possibility of using VEP, along with clinical parameters, for the assessment of ASD severity.
{"title":"A Study of the Correlation between VEP and Clinical Severity in Children with Autism Spectrum Disorder.","authors":"Winai Sayorwan, Nutthida Phianchana, Kannika Permpoonputtana, Vorasith Siripornpanich","doi":"10.1155/2018/5093016","DOIUrl":"10.1155/2018/5093016","url":null,"abstract":"<p><p>Visual evoked potential (VEP) is a technique used to assess the brain's electrical response to visual stimuli. The aims of this study were to examine neural transmission within the visual pathway through VEP testing in preschool children with autism spectrum disorder (ASD) and compare it to age-matched controls, as well as search for a correlation between the VEP parameters and the symptoms of ASD. Participants were composed of ASD children (9 males) and typically developing children (8 males and 4 females), aged between 3 and 5 years. Checkerboards were chosen as the pattern-reversal VEP. The clinical severity of ASD was assessed using the Autism Treatment Evaluation Checklist (ATEC) and the Vineland Adaptive Behavior Scales 2nd edition (VABS-II). Our findings demonstrated that children with ASD had significantly longer N145 latency compared to the controls. A longer N145 latency correlated with a higher score of ATEC within the sensory/cognitive awareness subdomain. In addition, a slower N145 response was also associated with a lower VABS-II score within the socialization domain. The correlation between longer VEP latency and abnormal behaviors in children with ASD suggests a delayed neural communication within other neural circuits, apart from the visual pathway. These lines of evidence support the possibility of using VEP, along with clinical parameters, for the assessment of ASD severity.</p>","PeriodicalId":8659,"journal":{"name":"Autism Research and Treatment","volume":"2018 ","pages":"5093016"},"PeriodicalIF":0.0,"publicationDate":"2018-01-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1155/2018/5093016","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"35940664","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2017-01-01Epub Date: 2017-05-31DOI: 10.1155/2017/9512180
Aaron Blocher-Rubin, Paige Krabill
Early Intensive Behavioral Intervention (EIBI) is an effective treatment for children with autism. However, it is known that some parents struggle to fully implement the program, and providers are not always able to identify the specifics of each family's individualized challenges. The purpose of this pilot study was to begin the process of developing a new instrument, the EIBI Parental Self-Efficacy (EPSE) Scale, to help providers better assess and assist parents in regard to EIBI implementation. The methodology included four phases: scale construction, expert review, pretest administration, and a large sample pilot study (N = 192). The final 29-item EPSE Scale contained strong reliability properties (Cronbach's alpha = .900). Factor analysis established five subscales: Family Well-Being, Preparing for Successful Sessions, Team Participation, Not Giving Up, and Working with your Child. Following this pilot study, future research is recommended to refine and validate the EPSE Scale as a useful clinical tool for EIBI providers.
{"title":"Initial Development of the Early Intensive Behavioral Intervention Parental Self-Efficacy Scale: A Pilot Study.","authors":"Aaron Blocher-Rubin, Paige Krabill","doi":"10.1155/2017/9512180","DOIUrl":"https://doi.org/10.1155/2017/9512180","url":null,"abstract":"<p><p>Early Intensive Behavioral Intervention (EIBI) is an effective treatment for children with autism. However, it is known that some parents struggle to fully implement the program, and providers are not always able to identify the specifics of each family's individualized challenges. The purpose of this pilot study was to begin the process of developing a new instrument, the EIBI Parental Self-Efficacy (EPSE) Scale, to help providers better assess and assist parents in regard to EIBI implementation. The methodology included four phases: scale construction, expert review, pretest administration, and a large sample pilot study (<i>N</i> = 192). The final 29-item EPSE Scale contained strong reliability properties (Cronbach's alpha = .900). Factor analysis established five subscales: <i>Family Well-Being</i>, <i>Preparing for Successful Sessions</i>, <i>Team Participation</i>, <i>Not Giving Up</i>, and <i>Working with your Child</i>. Following this pilot study, future research is recommended to refine and validate the EPSE Scale as a useful clinical tool for EIBI providers.</p>","PeriodicalId":8659,"journal":{"name":"Autism Research and Treatment","volume":"2017 ","pages":"9512180"},"PeriodicalIF":0.0,"publicationDate":"2017-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1155/2017/9512180","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"35114798","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Background: Between 45 and 95% of children with Autism Spectrum Disorder (ASD) present sensory features that affect their daily functioning. However, the data in the scientific literature are not conclusive regarding the evolution of sensory features in children with ASD. The main objective of this study was to analyze the sensory features of children within the age of 3-4 (T1) when they received their ASD diagnosis and two years later (T2) when they started school.
Methods: We conducted a prospective cohort study to assess sensory features in 34 children with ASD over time. The data were collected using a standardized assessment tool, the Sensory Profile.
Results: Our analyses show that sensory features in children with ASD are stable from the age of three to six years. The stability of sensory scores is independent of correction by covariates, such as cognitive level and autism severity scores.
Conclusions: Children with ASD have sensory features that persist from the time of diagnosis at the age of 3 to 4 years to school age. This persistence of sensory features from an early age underscores the need to support these children and their parents. Sensory features should be detected early and managed to improve functional and psychosocial outcomes.
{"title":"Longitudinal Study of Sensory Features in Children with Autism Spectrum Disorder.","authors":"Lucia Perez Repetto, Emmanuelle Jasmin, Eric Fombonne, Erika Gisel, Mélanie Couture","doi":"10.1155/2017/1934701","DOIUrl":"https://doi.org/10.1155/2017/1934701","url":null,"abstract":"<p><strong>Background: </strong>Between 45 and 95% of children with Autism Spectrum Disorder (ASD) present sensory features that affect their daily functioning. However, the data in the scientific literature are not conclusive regarding the evolution of sensory features in children with ASD. The main objective of this study was to analyze the sensory features of children within the age of 3-4 (T1) when they received their ASD diagnosis and two years later (T2) when they started school.</p><p><strong>Methods: </strong>We conducted a prospective cohort study to assess sensory features in 34 children with ASD over time. The data were collected using a standardized assessment tool, the Sensory Profile.</p><p><strong>Results: </strong>Our analyses show that sensory features in children with ASD are stable from the age of three to six years. The stability of sensory scores is independent of correction by covariates, such as cognitive level and autism severity scores.</p><p><strong>Conclusions: </strong>Children with ASD have sensory features that persist from the time of diagnosis at the age of 3 to 4 years to school age. This persistence of sensory features from an early age underscores the need to support these children and their parents. Sensory features should be detected early and managed to improve functional and psychosocial outcomes.</p>","PeriodicalId":8659,"journal":{"name":"Autism Research and Treatment","volume":"2017 ","pages":"1934701"},"PeriodicalIF":0.0,"publicationDate":"2017-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1155/2017/1934701","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"35429323","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2017-01-01Epub Date: 2017-09-17DOI: 10.1155/2017/5843851
Shawn E Christ, Janine P Stichter, Karen V O'Connor, Kimberly Bodner, Amanda J Moffitt, Melissa J Herzog
Autism spectrum disorder (ASD) is a neurodevelopmental disorder characterized by impairments in social communication. It has been postulated that such difficulties are related to disruptions in underlying cognitive processes such as executive function. The present study examined potential changes in executive function performance associated with participation in the Social Competence Intervention (SCI) program, a short-term intervention designed to improve social competence in adolescents with ASD. Laboratory behavioral performance measures were used to separately evaluate potential intervention-related changes in individual executive function component processes (i.e., working memory, inhibitory control, and cognitive flexibility) in a sample of 22 adolescents with ASD both before and after intervention. For comparison purposes, a demographically matched sample of 14 individuals without ASD was assessed at identical time intervals. Intervention-related improvements were observed on the working memory task, with gains evident in spatial working memory and, to a slightly lesser degree, verbal working memory. Significant improvements were also found for a working memory-related aspect of the task switching test (i.e., mixing costs). Taken together, these findings provide preliminary support for the hypothesis that participation in the SCI program is accompanied by changes in underlying neurocognitive processes such as working memory.
{"title":"Social Skills Intervention Participation and Associated Improvements in Executive Function Performance.","authors":"Shawn E Christ, Janine P Stichter, Karen V O'Connor, Kimberly Bodner, Amanda J Moffitt, Melissa J Herzog","doi":"10.1155/2017/5843851","DOIUrl":"https://doi.org/10.1155/2017/5843851","url":null,"abstract":"<p><p>Autism spectrum disorder (ASD) is a neurodevelopmental disorder characterized by impairments in social communication. It has been postulated that such difficulties are related to disruptions in underlying cognitive processes such as executive function. The present study examined potential changes in executive function performance associated with participation in the Social Competence Intervention (SCI) program, a short-term intervention designed to improve social competence in adolescents with ASD. Laboratory behavioral performance measures were used to separately evaluate potential intervention-related changes in individual executive function component processes (i.e., working memory, inhibitory control, and cognitive flexibility) in a sample of 22 adolescents with ASD both before and after intervention. For comparison purposes, a demographically matched sample of 14 individuals without ASD was assessed at identical time intervals. Intervention-related improvements were observed on the working memory task, with gains evident in spatial working memory and, to a slightly lesser degree, verbal working memory. Significant improvements were also found for a working memory-related aspect of the task switching test (i.e., mixing costs). Taken together, these findings provide preliminary support for the hypothesis that participation in the SCI program is accompanied by changes in underlying neurocognitive processes such as working memory.</p>","PeriodicalId":8659,"journal":{"name":"Autism Research and Treatment","volume":"2017 ","pages":"5843851"},"PeriodicalIF":0.0,"publicationDate":"2017-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1155/2017/5843851","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"35551157","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2017-01-01Epub Date: 2017-07-25DOI: 10.1155/2017/5781781
Costanza Colombi, Mohammad Ghaziuddin
Clinical heterogeneity is a well-established characteristic of autism spectrum disorder (ASD). While the comorbidity of ASD and ADHD is well known in clinical practice, relatively little research has examined the neuropsychological profile of children with ASD + ADHD. Our study showed significant differences in the neuropsychological characteristics of children with ASD + ADHD compared to those with ASD only. Children with ASD + ADHD showed higher symptoms of anxiety, worse working memory, and less empathy, as measured by the "Reading the Mind in the Eyes." This suggests that having ADHD brings further challenges to individuals with ASD and may negatively impact their management and outcome. Our findings may have implications for clinical assessment as well as for intervention.
{"title":"Neuropsychological Characteristics of Children with Mixed Autism and ADHD.","authors":"Costanza Colombi, Mohammad Ghaziuddin","doi":"10.1155/2017/5781781","DOIUrl":"10.1155/2017/5781781","url":null,"abstract":"<p><p>Clinical heterogeneity is a well-established characteristic of autism spectrum disorder (ASD). While the comorbidity of ASD and ADHD is well known in clinical practice, relatively little research has examined the neuropsychological profile of children with ASD + ADHD. Our study showed significant differences in the neuropsychological characteristics of children with ASD + ADHD compared to those with ASD only. Children with ASD + ADHD showed higher symptoms of anxiety, worse working memory, and less empathy, as measured by the \"Reading the Mind in the Eyes.\" This suggests that having ADHD brings further challenges to individuals with ASD and may negatively impact their management and outcome. Our findings may have implications for clinical assessment as well as for intervention.</p>","PeriodicalId":8659,"journal":{"name":"Autism Research and Treatment","volume":"2017 ","pages":"5781781"},"PeriodicalIF":0.0,"publicationDate":"2017-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5547727/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"35322387","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2017-01-01Epub Date: 2017-06-04DOI: 10.1155/2017/8195129
Mitsuhiko Ishikawa, Shoji Itakura, Hiroki C Tanabe
Limited use of contextual information has been suggested as a way of understanding cognition in people with autism spectrum disorder (ASD). However, it has also been argued that individuals with ASD may have difficulties inferring others' mental states. Here, we examined how individuals with different levels of autistic traits respond to contextual deviations by measuring event-related potentials that reflect context usage. The Autism Spectrum Quotient (AQ) was used to quantify autistic-like traits in 28 university students, and 19 participants were defined as Low or High AQ groups. To additionally examine inferences about mental state, two belief conditions (with or without false belief) were included. Participants read short stories in which the final sentence included either an expected or an unexpected word and rated the word's degree of deviation from expectation. P300 waveform analysis revealed that unexpected words were associated with larger P300 waveforms for the Low AQ group, but smaller P300 responses in the High AQ group. Additionally, AQ social skill subscores were positively correlated with evaluation times in the Unexpected condition, whether a character's belief was false or not. This suggests that autistic traits can affect responses to unexpected events, possibly because of decreased availability of context information.
{"title":"Autistic Traits Affect P300 Response to Unexpected Events, regardless of Mental State Inferences.","authors":"Mitsuhiko Ishikawa, Shoji Itakura, Hiroki C Tanabe","doi":"10.1155/2017/8195129","DOIUrl":"https://doi.org/10.1155/2017/8195129","url":null,"abstract":"<p><p>Limited use of contextual information has been suggested as a way of understanding cognition in people with autism spectrum disorder (ASD). However, it has also been argued that individuals with ASD may have difficulties inferring others' mental states. Here, we examined how individuals with different levels of autistic traits respond to contextual deviations by measuring event-related potentials that reflect context usage. The Autism Spectrum Quotient (AQ) was used to quantify autistic-like traits in 28 university students, and 19 participants were defined as Low or High AQ groups. To additionally examine inferences about mental state, two belief conditions (with or without false belief) were included. Participants read short stories in which the final sentence included either an expected or an unexpected word and rated the word's degree of deviation from expectation. P300 waveform analysis revealed that unexpected words were associated with larger P300 waveforms for the Low AQ group, but smaller P300 responses in the High AQ group. Additionally, AQ social skill subscores were positively correlated with evaluation times in the Unexpected condition, whether a character's belief was false or not. This suggests that autistic traits can affect responses to unexpected events, possibly because of decreased availability of context information.</p>","PeriodicalId":8659,"journal":{"name":"Autism Research and Treatment","volume":"2017 ","pages":"8195129"},"PeriodicalIF":0.0,"publicationDate":"2017-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1155/2017/8195129","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"35127604","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2017-01-01Epub Date: 2017-12-25DOI: 10.1155/2017/8685950
Sheri R Kiami, Shelley Goodgold
This study examined maternal stress, coping strategies, and support needs among mothers of children with Autism Spectrum Disorder (ASD). A convenience sample of 70 mothers completed the Parent Stress Index Short Form (PSI-SF), Coping Health Inventory for Parents (CHIP), and Modified Family Needs Questionnaire (FNQ). PSI-SF scores reflected clinically significant levels of stress for 77% of mothers, and mothers identified 62.4% of important needs as unmet. The five most frequently reported important unmet needs were (1) financial support; (2) break from responsibilities; (3) understanding of other after-school program children; (4) rest/sleep; (5) help remaining hopeful about the future. Most coping strategies (81%) were identified as helpful. Additionally, both coping strategies and support needs served as predictors for maternal stress. Maternal stress scores decreased by .402 points for each percent increase in helpful coping strategy, and stress scores increased by .529 points with each percent increase in unmet needs. Given large variation in questionnaire responses across participants and studies, utilization of user-friendly questionnaires, such as the PSI-SF, CHIP, and FNQ, is advocated to determine the evolving important needs unique to each family over the child's lifetime as well as guide prioritization of care, compilation of resources, and referrals for additional services.
{"title":"Support Needs and Coping Strategies as Predictors of Stress Level among Mothers of Children with Autism Spectrum Disorder.","authors":"Sheri R Kiami, Shelley Goodgold","doi":"10.1155/2017/8685950","DOIUrl":"10.1155/2017/8685950","url":null,"abstract":"<p><p>This study examined maternal stress, coping strategies, and support needs among mothers of children with Autism Spectrum Disorder (ASD). A convenience sample of 70 mothers completed the Parent Stress Index Short Form (PSI-SF), Coping Health Inventory for Parents (CHIP), and Modified Family Needs Questionnaire (FNQ). PSI-SF scores reflected clinically significant levels of stress for 77% of mothers, and mothers identified 62.4% of important needs as unmet. The five most frequently reported important unmet needs were (1) financial support; (2) break from responsibilities; (3) understanding of other after-school program children; (4) rest/sleep; (5) help remaining hopeful about the future. Most coping strategies (81%) were identified as helpful. Additionally, both coping strategies and support needs served as predictors for maternal stress. Maternal stress scores decreased by .402 points for each percent increase in helpful coping strategy, and stress scores increased by .529 points with each percent increase in unmet needs. Given large variation in questionnaire responses across participants and studies, utilization of user-friendly questionnaires, such as the PSI-SF, CHIP, and FNQ, is advocated to determine the evolving important needs unique to each family over the child's lifetime as well as guide prioritization of care, compilation of resources, and referrals for additional services.</p>","PeriodicalId":8659,"journal":{"name":"Autism Research and Treatment","volume":"2017 ","pages":"8685950"},"PeriodicalIF":0.0,"publicationDate":"2017-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5757090/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"35825154","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2017-01-01Epub Date: 2017-07-19DOI: 10.1155/2017/1048302
M Mackus, D de Kruijff, L S Otten, A D Kraneveld, J Garssen, J C Verster
It has been suggested that the second (2D, index finger) to fourth (4D, ring finger) digit ratio, 2D : 4D, may be a biomarker for the risk of developing autism. The aim of the current study was to determine the usefulness of the 2D : 4D digit ratio as biomarker for autistic traits. N = 401 healthy young volunteers participated in the study. For both hands, digit lengths were measured using digital Vernier calipers. In addition to demographics, the Autism Spectrum Quotient (AQ) questionnaire was completed, comprised of five subscales, assessing "social insights and behavior," "attention switching," "communication," "imagination," and "attention to detail." Overall, no significant correlations were observed between the AQ total score, its subscales, and the 2D : 4D digit ratio. For women, the left hand 2D : 4D digit ratio correlated significantly with the subscale score "communication" (r = -0.142; p = 0.036). For men, a significant positive correlation was found between the left 2D : 4D digit ratio and the total AQ score (r = 0.157; p = 0.042) and AQ subscale "attention switching" (r = 0.182; p = 0.017). In conclusion, gender specific associations between the 2D : 4D digit ratio and specific autism traits were observed, which were stronger in men than in women. Future studies should be conducted in patients that are formally diagnosed with autism.
{"title":"The 2D : 4D Digit Ratio as a Biomarker for Autism Spectrum Disorder.","authors":"M Mackus, D de Kruijff, L S Otten, A D Kraneveld, J Garssen, J C Verster","doi":"10.1155/2017/1048302","DOIUrl":"https://doi.org/10.1155/2017/1048302","url":null,"abstract":"<p><p>It has been suggested that the second (2D, index finger) to fourth (4D, ring finger) digit ratio, 2D : 4D, may be a biomarker for the risk of developing autism. The aim of the current study was to determine the usefulness of the 2D : 4D digit ratio as biomarker for autistic traits. <i>N</i> = 401 healthy young volunteers participated in the study. For both hands, digit lengths were measured using digital Vernier calipers. In addition to demographics, the Autism Spectrum Quotient (AQ) questionnaire was completed, comprised of five subscales, assessing \"social insights and behavior,\" \"attention switching,\" \"communication,\" \"imagination,\" and \"attention to detail.\" Overall, no significant correlations were observed between the AQ total score, its subscales, and the 2D : 4D digit ratio. For women, the left hand 2D : 4D digit ratio correlated significantly with the subscale score \"communication\" (<i>r</i> = -0.142; <i>p</i> = 0.036). For men, a significant positive correlation was found between the left 2D : 4D digit ratio and the total AQ score (<i>r</i> = 0.157; <i>p</i> = 0.042) and AQ subscale \"attention switching\" (<i>r</i> = 0.182; <i>p</i> = 0.017). In conclusion, gender specific associations between the 2D : 4D digit ratio and specific autism traits were observed, which were stronger in men than in women. Future studies should be conducted in patients that are formally diagnosed with autism.</p>","PeriodicalId":8659,"journal":{"name":"Autism Research and Treatment","volume":"2017 ","pages":"1048302"},"PeriodicalIF":0.0,"publicationDate":"2017-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1155/2017/1048302","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"35265181","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2017-01-01Epub Date: 2017-11-08DOI: 10.1155/2017/9371964
Kyleen Luhrs, Tracey Ward, Caitlin M Hudac, Jennifer Gerdts, Holly A F Stessman, Evan E Eichler, Raphael A Bernier
The purpose of this study was to examine the confluence of genetic and familial risk factors in children with Autism Spectrum Disorder (ASD) with distinct de novo genetic events. We hypothesized that gene-disrupting mutations would be associated with reduced rates of familial psychiatric disorders relative to structural mutations. Participants included families of children with ASD in four groups: de novo duplication copy number variations (DUP, n = 62), de novo deletion copy number variations (DEL, n = 74), de novo likely gene-disrupting mutations (LGDM, n = 267), and children without a known genetic etiology (NON, n = 2111). Familial rates of psychiatric disorders were calculated from semistructured interviews. Results indicated overall increased rates of psychiatric disorders in DUP families compared to DEL and LGDM families, specific to paternal psychiatric histories, and particularly evident for depressive disorders. Higher rates of depressive disorders in maternal psychiatric histories were observed overall compared to paternal histories and higher rates of anxiety disorders were observed in paternal histories for LGDM families compared to DUP families. These findings support the notion of an additive contribution of genetic etiology and familial factors are associated with ASD risk and highlight critical need for continued work targeting these relationships.
本研究的目的是检查遗传和家族风险因素在自闭症谱系障碍(ASD)儿童中具有不同的新生遗传事件的合流。我们假设,相对于结构突变,基因破坏突变与家族性精神疾病的发生率降低有关。参与者包括四组自闭症儿童家庭:新生的重复拷贝数变异(DUP, n = 62)、新生的缺失拷贝数变异(DEL, n = 74)、新生的可能基因破坏突变(LGDM, n = 267)和没有已知遗传病因的儿童(NON, n = 2111)。精神疾病的家族发病率是通过半结构化访谈计算出来的。结果表明,与DEL和LGDM家族相比,DUP家族的精神疾病总体发生率增加,这与父亲的精神病史有关,尤其是抑郁症。总体而言,与父亲的精神病史相比,LGDM家庭的母亲精神病史中抑郁症的发生率更高,而与DUP家庭相比,LGDM家庭的父亲精神病史中焦虑症的发生率更高。这些发现支持了遗传病因和家族因素与ASD风险相关的概念,并强调了针对这些关系继续开展工作的迫切需要。
{"title":"Associations between Familial Rates of Psychiatric Disorders and De Novo Genetic Mutations in Autism.","authors":"Kyleen Luhrs, Tracey Ward, Caitlin M Hudac, Jennifer Gerdts, Holly A F Stessman, Evan E Eichler, Raphael A Bernier","doi":"10.1155/2017/9371964","DOIUrl":"https://doi.org/10.1155/2017/9371964","url":null,"abstract":"<p><p>The purpose of this study was to examine the confluence of genetic and familial risk factors in children with Autism Spectrum Disorder (ASD) with distinct de novo genetic events. We hypothesized that gene-disrupting mutations would be associated with reduced rates of familial psychiatric disorders relative to structural mutations. Participants included families of children with ASD in four groups: de novo duplication copy number variations (DUP, <i>n</i> = 62), de novo deletion copy number variations (DEL, <i>n</i> = 74), de novo likely gene-disrupting mutations (LGDM, <i>n</i> = 267), and children without a known genetic etiology (NON, <i>n</i> = 2111). Familial rates of psychiatric disorders were calculated from semistructured interviews. Results indicated overall increased rates of psychiatric disorders in DUP families compared to DEL and LGDM families, specific to paternal psychiatric histories, and particularly evident for depressive disorders. Higher rates of depressive disorders in maternal psychiatric histories were observed overall compared to paternal histories and higher rates of anxiety disorders were observed in paternal histories for LGDM families compared to DUP families. These findings support the notion of an additive contribution of genetic etiology and familial factors are associated with ASD risk and highlight critical need for continued work targeting these relationships.</p>","PeriodicalId":8659,"journal":{"name":"Autism Research and Treatment","volume":"2017 ","pages":"9371964"},"PeriodicalIF":0.0,"publicationDate":"2017-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1155/2017/9371964","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"35664807","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}