scholarly journals A common variant of CNTNAP2 is associated with sub-threshold autistic traits and intellectual disability

PLoS ONE ◽  
2021 ◽  
Vol 16 (12) ◽  
pp. e0260548
Author(s):  
Yuka Shiota ◽  
Tetsu Hirosawa ◽  
Yuko Yoshimura ◽  
Sanae Tanaka ◽  
Chiaki Hasegawa ◽  
...  

Sub-threshold autistic traits are common in the general population. Children with sub-threshold autistic traits have difficulties with social adaptation. Contactin-associated protein-like 2 (CNTNAP2) is associated with the development of Autism spectrum disorder (ASD) and the single-nucleotide polymorphism rs2710102 (G/A) of CNTNAP2 is suggested to contribute to sub-threshold social impairments and intellectual disabilities. We recruited 67 children with Autistic disorder (AD) (49 boys, 18 girls, aged 38–98 months) and 57 typically developing (TD) children (34 boys, 23 girls, aged 53–90 months). We assessed the participants’ intelligence and social reciprocity using the Kaufman Assessment Battery for Children (K-ABC) and the Social Responsiveness Scale (SRS), respectively. Genomic DNA was extracted from the buccal mucosa and genotyped for rs2710102. A chi-square test revealed a significant association between genotype and group [χ2(2) = 6.56, p = 0.038]. When a co-dominant model was assumed, the results from linear regression models demonstrated that TD children with A-carriers (AA + AG) presented higher SRS T-scores [t(55) = 2.11, p = 0.039] and lower simultaneous processing scale scores of K-ABC [t(55) = -2.19, p = 0.032] than those with GG homozygotes. These associations were not significant in children with ASD. TD children with the rs2710102 A-allele may have more sub-threshold autistic traits than those with GG homozygotes, reflected in higher SRS scores and lower simultaneous processing scale scores. These results support the use of genetic evidence to detect sub-threshold autistic traits.

2014 ◽  
Vol 56 (6) ◽  
pp. 487-492 ◽  
Author(s):  
Lucas Gaíva E Silva ◽  
Alice Mamede Costa Marques Borges ◽  
Eliana Monteforte Cassaro Villalobos ◽  
Maria do Carmo Custodio Souza Hunold Lara ◽  
Elenice Maria Siquetin Cunha ◽  
...  

The prevalence of antibodies against Equine Influenza Virus (EIV) was determined in 529 equines living on ranches in the municipality of Poconé, Pantanal area of Brazil, by means of the hemagglutination inhibition test, using subtype H3N8 as antigen. The distribution and possible association among positive animal and ranches were evaluated by the chi-square test, spatial autoregressive and multiple linear regression models. The prevalence of antibodies against EIV was estimated at 45.2% (95% CI 30.2 - 61.1%) with titers ranging from 20 to 1,280 HAU. Seropositive equines were found on 92.0% of the surveyed ranches. Equine from non-flooded ranches (66.5%) and negativity in equine infectious anemia virus (EIAV) (61.7%) were associated with antibodies against EIV. No spatial correlation was found among the ranches, but the ones located in non-flooded areas were associated with antibodies against EIV. A negative correlation was found between the prevalence of antibodies against EIV and the presence of EIAV positive animals on the ranches. The high prevalence of antibodies against EIV detected in this study suggests that the virus is circulating among the animals, and this statistical analysis indicates that the movement and aggregation of animals are factors associated to the transmission of the virus in the region.


2019 ◽  
Vol 50 (4) ◽  
pp. 233-246 ◽  
Author(s):  
Pei-Yin Pan ◽  
Kristiina Tammimies ◽  
Sven Bölte

AbstractThis study used a twin cohort to investigate the association of autism spectrum disorder (ASD) and autistic traits with somatic health. A total of 344 twins (172 pairs; mean age 15.56 ± 5.62 years) enriched for ASD and other neurodevelopmental conditions were examined. Medical history and current physical problems were collected with a validated questionnaire to determine twin’s somatic health. The Social Responsiveness Scale (SRS-2) was used to measure the participant’s severity of autistic traits. Identified somatic health issues with significant within-twin pair differences were tested in relation to both ASD diagnosis and autistic traits in a co-twin control model. Twins with ASD exhibited more neurological and immunological health problems compared to those without ASD (p = 0.005 and p = 0.004, respectively). The intra-pair differences of neurological conditions and SRS-2 score were significantly correlated in monozygotic twins differing for autism traits (r = 0.40, p = 0.001), while the correlation was not found for immunological problems. In addition, a conditional model for analysis of within-twin pair effects revealed an association between neurological problems and clinical ASD diagnosis (Odds ratio per neurological problem 3.15, p = 0.02), as well as autistic traits (β = 10.44, p = 0.006), after adjusting for possible effects of co-existing attention deficit hyperactivity disorder and general intellectual abilities. Our findings suggest that neurological problems are associated with autism, and that non-shared environmental factors contribute to the overlap for both clinical ASD and autistic traits. Further population-based twin studies are warranted to validate our results and examine in detailed the shared genetic and environmental contributions of neurological problems and ASD.


2017 ◽  
Vol 41 (S1) ◽  
pp. S136-S136 ◽  
Author(s):  
A. Gaman ◽  
O. Godin ◽  
I. Scheid ◽  
D. Monnet ◽  
E. Murzi ◽  
...  

Background and rationalePsychiatric comorbidities are shown to be very prevalent in patients diagnosed with Autism Spectrum Disorder (ASD), up high to 53% for mood, 50% anxiety and 43% for ADHD disorders in an European cohort of adults with HFA. Using a new approach, our study proposes to explore aspects of comorbidities in the largest French cohort of HFA adults (C0733/InfoR) by implying qualitative and quantitative clinical tools.AimsTo explore: (1) the prevalence rates of psychiatric comorbidities; (2) the interplay between comorbidities and the ASD symptoms.MethodsDiagnosis was made according to DSM 5 criteria. Dimensional evaluation used Social Responsiveness Scale (SRS), Systemizing Quotient (SQ) and Empathy Quotient (EQ). We used T-test, Mann–Whitney test and linear regression models.ResultsWe included 103 patients (mean age 29.3, sex ratio M/F: 3.4:1). Lifetime prevalence rates of 53.5% for depressive disorder 73.5% for anxiety disorders and 37.5% for ADHD were found. Subjects with psychotic co-morbid symptoms had a more severe social deficit (SRS score 66.2 vs 77.9 P < 0.05); patients with ADHD, lower cognition (mean IQ total 107.7 vs 99.0 P < 0.05). SQs (P < 0.05) were significantly higher in patients with co-morbid psychosis, dysthymia, suicide attempts, and depressive disorders and directly correlated with age (β = 0.35, P < 0.05). SQ and EQ were inversely correlated.DiscussionThe results reproduce the high prevalence of comorbidities in other studies and explore its association with social functioning and cognition. Identification of associated psychiatric conditions in subjects with HFA is therefore a crucial clinical issue potentially guiding the treatment.Disclosure of interestThe authors have not supplied their declaration of competing interest.


2021 ◽  
Vol 14 (1) ◽  
pp. 14-21
Author(s):  
Amir Sobhani Eraghi ◽  
Iman Azizpour ◽  
Mikaiel Hajializade

Background: Celecoxib is widely used in post-operative cases because of its ability to reduce postoperative opioid drug use. Currently, the use of this drug is common in post-operative cases. In various studies, pregabalin was used for the management of pain after spinal surgery to reduce the need for opioids. Objectives: Since the treatment of tibia fractures and surgery is painful and has a long-term recovery, this study aimed to compare the effect of two drugs (pregabalin and celecoxib) on pain severity at 24 h postoperatively in patients having tibia fracture surgery. This would mark significant progress in taking the proper drug. Methods: In this probability clinical experiment, the sample consisted of 50 patients scheduled for tibia fractures, who were selected from the table of random numbers. Then, the patients were assigned into two groups: celecoxib (Group C) and pregabalin (Group P). In the first group, celecoxib was administered to patients at 1 h pre-operatively at a dose of 200 mg and 1 h post-operatively at a dose of 200 mg. In the second treatment group, patients received pregabalin at 1 h pre-operatively at a dose of 200 mg and 1 h post-operatively at a dose of 200 mg orally. Then VAS (visual analog scale) scores were recorded at 6, 12, and 24 h after surgery. Finally, using SPSS software, qualitative variables were compared according to their percentage by the Chi-square test. For quantitative analysis of variables, the mean value of each group was calculated. The comparison of means was made by t-test. Results: The VAS score was considerably lower at 24 hours after surgery in the pregabalin group than in the celecoxib-treated group. However, after 6 and 12 h of surgery, no statistically meaningful difference was observed. A less analgesic effect was observed in the group treated with celecoxib than pregabalin, which was statistically significant. Conclusion: Pregabalin improves postoperative pain, and it has more analgesic effects than celecoxib.


Author(s):  
Meri Nolcheva ◽  
Vladimir Trajkovski

Abstract: Each year more families are confronted with unique challenges related to raising a child with ASD. Parenting stress is a significant aspect of fulfilling the role as a parent, and having a child with ASD greatly influences the experienced stress. The literature review indicates that parenting stress is inversely proportional to family support and coping mechanisms.Appraising the stress level among parents of children with ASD, the coping mechanisms and the level of family support, in comparison with parents of children diagnosed with ID.: A group of parents of children with ASD (N=35) and a second group of children with ID (N=35) completed four question-nnaires: PSI-SF, Brief COPE, FSS and demographic questionnaire. The data was analyzed using t-test for comparison, Chi-square test for comparing frequency distributions and Pearson coefficient for correlation, with: Parenting stress did not differ between the two groups. The coping mechanisms used by the parents of children with ASD showed that increased usage of distraction (: There are no differences in the level of stress, coping mechanisms and the level of support comparing parents of children with ASD and ID.


2018 ◽  
Vol 7 (2) ◽  
pp. 104-112
Author(s):  
Andri Dwi Hernawan ◽  
Aisyah Diningrum ◽  
Sri Nugroho Jati ◽  
M. Nasip

Abstract There were 112,000 ASD sufferers in Indonesia in 2012 and in 2015 it was estimated that there were 1 per 250 children or 134,000 sufferers. The proportion of ASD was 62.8% and in 2016 it was 1.28 out of 1000 children in 2015. This study aimed to determine the risk factors for the incidence of ASD in Pontianak City. The research method was analytic observational with a control case study design. The sample was 70 people (35 cases and 35 controls) taken by purposive sampling technique. Data analysis used Chi-Square test (α = 0,05). The results showed that the factors associated with the incidence of ASD were father's age (p = 0.03; OR = 4.00; CI = 1.250-12.804), stress history during pregnancy (p = 0.04; OR = 3.18; CI = 1.13-8.93) and insufficient months of birth (p = 0.036; OR = 4.88; CI = 1.22-19.4), while age of mother during pregnancy, passive smoker, antenatal hemorrhage and pregnancy interval were not associated with the incidence of ASD (p> 0.05). The conclusion of this study is father's age, the presence of a history of stress during pregnancy and insufficient months of birth associated with the incidence of ASD. Keywords: Father’s age, Stress History, Autism Spectrum Disorder   Abstrak Autism Spectrum Disorder (ASD) dikenal sebagai triad of impairments yaitu adanya gangguan perkembangan pada aspek komunikasi, adanya perilaku yang diulang-ulang dan gangguan dalam berinteraksi dengan lingkungan. Pada tahun 2012 dilaporkan sebanyak 112.000 penderita ASD di Indonesia, tahun 2015 diperkirakan terdapat 1 per 250 anak atau 134.000 penderita. Data dari UPTD Autis Center Kota Pontianak tahun 2015 proporsi ASD sebesar 62,8% dan pada tahun 2016 sebesar 1,28 dari 1000 anak. Penelitian ini bertujuan untuk mengetahui faktor risiko kejadian ASD di Kota Pontianak. Metode penelitian adalah observasional analitik dengan desain studi kasus kontrol.Sampel penelitian berjumlah 70 orang (35 kasus dan 35 kontrol) yang diambil dengan teknik purposive sampling. Analisis data menggunakan uji Chi-Square (α=0,05). Hasil penelitian menunjukkan faktor yang berhubungan dengan kejadian ASD adalah usia ayah (p=0,03; OR=4,00; CI=1,250-12,804), riwayat stres saat hamil (p=0,04; OR=3,18; CI=1,13-8,93) dan lahir belum cukup bulan (p=0,036; OR=4,88; CI=1,22-19,4), sedangkan usia ibu saat hamil, perokok pasif, perdarahan antenatal dan jarak kehamilan tidak berhubungan dengan kejadian ASD (p>0,05). Simpulan penelitian ini adalah faktor usia ayah, adanya riwayat stres saat hamil dan kelahiran belum cukup bulan berhubungan dengan kejadian ASD. Keyword : Usia ayah, riwayat stress, Autism Spectrum Disorder


Revista CEFAC ◽  
2021 ◽  
Vol 23 (4) ◽  
Author(s):  
Fernanda Aparecida Ferreira de Freitas ◽  
Ana Cristina de Albuquerque Montenegro ◽  
Fernanda Dreux Miranda Fernandes ◽  
Isabelle Cahino Delgado ◽  
Larissa Nadjara Alves Almeida ◽  
...  

ABSTRACT Objective: to describe the communication skills of children with autistic spectrum disorder (ASD), considering the clinical and family perspective. Methods: from the point of view of parents and therapists, the language of ten children with ASD was analyzed. All children underwent speech therapy at the outpatient clinic of a Speech Therapy School. Two protocols were used for data collection. Autism Treatment Evaluation Checklist (ATEC), which was applied to the children's parents, and Protocol for Assessment of Pragmatic Skills of Children with Autism Spectrum Disorders - called Pragmatic Protocol (PP), which was answered by therapists. The data were examined through a descriptive statistical analysis, considering absolute and relative frequency, and inferential statistics, through the Chi-square test, with a 5% of significance for all analyses. Results: an expressive presence of communicative deficits, in the answers presented by the therapists, was seen. In the protocol answered by the parents, it was also possible to observe the same trend, since the children failed to score in several items of Subscale I. Conclusion: parents and therapists evidenced changes in the communicative skills of the children surveyed, and emphasized that therapists, who have technical linguistic knowledge, like parents, can also be good informants about their children's communicative development process.


Author(s):  
S. Savickaite ◽  
C. Morrison ◽  
E. Lux ◽  
J. Delafield-Butt ◽  
D. R. Simmons

AbstractThis paper describes a smart tablet-based drawing app to digitally record participants’ engagement with the Rey-Osterrieth complex figure (ROCF) task, a well-characterised perceptual memory task that assesses local and global memory. Digitisation of the tasks allows for improved ecological validity, especially in children attracted to tablet devices. Further, digital translation of the tasks affords new measures, including accuracy and computation of the fine motor control kinematics employed to carry out the drawing Here, we report a feasibility study to test the relationship between two neurodevelopmental conditions: autism spectrum disorder (ASD) and attention-deficit/hyperactivity disorder (ADHD). The smart tablet app was employed with 39 adult participants (18-35) characterised for autistic and ADHD traits, and scored using the ROCF perceptual and organisational scoring systems. Trait scores and conditions were predictor variables in linear regression models. Positive correlations were found between the attention-to-detail, attention-switching and communication subscales of the autistic trait questionnaire and organisational scores on the ROCF task. These findings suggest that autistic traits might be linked to differential performance on the ROCF task. Novelty and future applications of the app are discussed.


2021 ◽  
pp. 102986492098816
Author(s):  
Shalini Sivathasan ◽  
Gwenaëlle Philibert-Lignières ◽  
Eve-Marie Quintin

Little is known about the relationship between the personality and the emotional experiences of people with broader autism phenotype (BAP) or autistic traits. Given that music is a powerful vehicle for conveying emotions and that several studies show that people with and without autism spectrum disorder (ASD) typically respond to music in similar ways, the present study examines the relationship between personality, autistic traits, and emotional experiences evoked by music. A total of 110 participants ( n = 74 females) aged 18 to 35 years ( M = 21.25, SD = 3.36) completed the NEO-Five Factor Inventory-3-S, Social Responsiveness Scale-2, Autism-Spectrum Quotient, and Goldsmiths Musical Sophistication Index self-report questionnaires. Path analyses revealed that the relationship between autistic traits and emotional responsiveness to music was fully mediated by extraversion, and to a lesser extent openness to experience. These results suggest that people in the general population who have fewer autistic traits and who tend to be extraverted and open to experience report greater emotional responsiveness to music than those who are less extraverted and less open to experience. These findings suggest that it is important to consider personality characteristics when considering the relationship between autistic traits and emotional experiences.


2021 ◽  
Vol 9 (4) ◽  
pp. 925-934
Author(s):  
Okan Gültekin ◽  

The desire to admire has varied with the introduction of social media networks into our lives. This diversity is among the subjects worth researching, especially among women who do sports. The study aims to examine the desire to be liked and the level of use of social media networks in terms of various variables. For this purpose, the "personal information form" developed by the researchers and the "desire to like" scale developed by Kaşıkara and Doğan (2017) were applied to 120 women with an average age of 30.65. The Chi-square test was applied for the statistical solutions of the study. As a result of the analysis, a difference was found between demographic characteristics, but no similarity was found in terms of scale scores.


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