Autistic Scores Research Articles

Mapping associations of polygenic scores with autistic and ADHD traits in a single city region.

The genetic and environmental aetiology of autistic and Attention Deficit Hyperactivity Disorder (ADHD) traits is known to vary spatially, but does this translate into variation in the association of specific common genetic variants? We mapped associations between polygenic scores for autism and ADHD and their respective traits in the Avon Longitudinal Study of Parents and Children (N = 4,255-6,165) across the area surrounding Bristol, UK, and compared them to maps of environments associated with the prevalence of autism and ADHD. Our results suggest genetic associations vary spatially, with consistent patterns for autistic traits across polygenic scores constructed at different p-value thresholds. Patterns for ADHD traits were more variable across thresholds. We found that the spatial distributions often correlated with known environmental influences. These findings shed light on the factors that contribute to the complex interplay between the environment and genetic influences in autistic and ADHD traits.

Association of polygenic scores for autism with volumetric MRI phenotypes in cerebellum and brainstem in adults

Previous research on autism spectrum disorders (ASD) have showed important volumetric alterations in the cerebellum and brainstem. Most of these studies are however limited to case-control studies with small clinical samples and including mainly children or adolescents. Herein, we aimed to explore the association between the cumulative genetic load (polygenic risk score, PRS) for ASD and volumetric alterations in the cerebellum and brainstem, as well as global brain tissue volumes of the brain among adults at the population level. We utilized the latest genome-wide association study of ASD by the Psychiatric Genetics Consortium (18,381 cases, 27,969 controls) and constructed the ASD PRS in an independent cohort, the UK Biobank. Regression analyses controlled for multiple comparisons with the false-discovery rate (FDR) at 5% were performed to investigate the association between ASD PRS and forty-four brain magnetic resonance imaging (MRI) phenotypes among ~ 31,000 participants. Primary analyses included sixteen MRI phenotypes: total volumes of the brain, cerebrospinal fluid (CSF), grey matter (GM), white matter (WM), GM of whole cerebellum, brainstem, and ten regions of the cerebellum (I_IV, V, VI, VIIb, VIIIa, VIIIb, IX, X, CrusI and CrusII). Secondary analyses included twenty-eight MRI phenotypes: the sub-regional volumes of cerebellum including the GM of the vermis and both left and right lobules of each cerebellar region. ASD PRS were significantly associated with the volumes of seven brain areas, whereby higher PRS were associated to reduced volumes of the whole brain, WM, brainstem, and cerebellar regions I-IV, IX, and X, and an increased volume of the CSF. Three sub-regional volumes including the left cerebellar lobule I-IV, cerebellar vermes VIIIb, and X were significantly and negatively associated with ASD PRS. The study highlights a substantial connection between susceptibility to ASD, its underlying genetic etiology, and neuroanatomical alterations of the adult brain.

Visuo-motor updating in individuals with heightened autistic traits

Autism spectrum disorder (ASD) presents a range of challenges, including heightened sensory sensitivities. Here, we examine the idea that sensory overload in ASD may be linked to issues with efference copy mechanisms, which predict the sensory outcomes of self-generated actions, such as eye movements. Efference copies play a vital role in maintaining visual and motor stability. Disrupted efference copies hinder precise predictions, leading to increased reliance on actual feedback and potential distortions in perceptions across eye movements. In our first experiment, we tested how well healthy individuals with varying levels of autistic traits updated their mental map after making eye movements. We found that those with more autistic traits had difficulty using information from their eye movements to update the spatial representation of their mental map, resulting in significant errors in object localization. In the second experiment, we looked at how participants perceived an object displacement after making eye movements. Using a trans-saccadic spatial updating task, we found that those with higher autism scores exhibited a greater bias, indicating under-compensation of eye movements and a failure to maintain spatial stability during saccades. Overall, our study underscores efference copy’s vital role in visuo-motor stability, aligning with Bayesian theories of autism, potentially informing interventions for improved action–perception integration in autism.

Visuo-motor updating in individuals with heightened autistic traits.

Autism spectrum disorder (ASD) presents a range of challenges, including heightened sensory sensitivities. Here, we examine the idea that sensory overload in ASD may be linked to issues with efference copy mechanisms, which predict the sensory outcomes of self-generated actions, such as eye movements. Efference copies play a vital role in maintaining visual and motor stability. Disrupted efference copies hinder precise predictions, leading to increased reliance on actual feedback and potential distortions in perceptions across eye movements. In our first experiment, we tested how well healthy individuals with varying levels of autistic traits updated their mental map after making eye movements. We found that those with more autistic traits had difficulty using information from their eye movements to update the spatial representation of their mental map, resulting in significant errors in object localization. In the second experiment, we looked at how participants perceived an object displacement after making eye movements. Using a trans-saccadic spatial updating task, we found that those with higher autism scores exhibited a greater bias, indicating under-compensation of eye movements and a failure to maintain spatial stability during saccades. Overall, our study underscores efference copy's vital role in visuo-motor stability, aligning with Bayesian theories of autism, potentially informing interventions for improved action-perception integration in autism.

Cerebrospinal fluid metabolomes of treatment-resistant depression subtypes and ketamine response: a pilot study.

Depression is a disorder with variable presentation. Selecting treatments and dose-finding is, therefore, challenging and time-consuming. In addition, novel antidepressants such as ketamine have sparse optimization evidence. Insights obtained from metabolomics may improve the management of patients. The objective of this study was to determine whether compounds in the cerebrospinal fluid (CSF) metabolome correlate with scores on questionnaires and response to medication. We performed a retrospective pilot study to evaluate phenotypic and metabolomic variability in patients with treatment-resistant depression using multivariate data compression algorithms. Twenty-nine patients with treatment-resistant depression provided fasting CSF samples. Over 300 metabolites were analyzed in these samples with liquid chromatography-mass spectrometry. Chart review provided basic demographic information, clinical status with self-reported questionnaires, and response to medication. Of the 300 metabolites analyzed, 151 were present in all CSF samples and used in the analyses. Hypothesis-free multivariate analysis compressed the resultant data set into two dimensions using Principal Component (PC) analysis, accounting for ~ 32% of the variance. PC1 accounted for 16.9% of the variance and strongly correlated with age in one direction and 5-methyltetrahydrofolate, homocarnosine, and depression and anxiety scores in the opposite direction. PC2 accounted for 15.4% of the variance, with one end strongly correlated with autism scores, male gender, and cognitive fatigue scores, and the other end with bipolar diagnosis, lithium use, and ethylmalonate disturbance. This small pilot study suggests that complex treatment-resistant depression can be mapped onto a 2-dimensional pathophysiological domain. The results may have implications for treatment selection for depression subtypes.

Pattern glare sensitivity distinguishes subclinical autism and schizotypy

ABSTRACT Introduction Schizophrenia and autism spectrum disorder are distinct neurodevelopmental disorders sharing clinically relevant behaviours. However, early sensory responses show divergent responses. Individuals with schizophrenia typically exhibit cortical hypo-excitability whereas individuals with autism show cortical hyperexcitability. Identifying reliable neurobiological differences between the disorders can diminish misdiagnosis and optimise treatments. Methods The pattern glare test (PGT) is a simple measure of behavioural hyperexcitability. It measures the number of illusions seen in a static horizontal grating. We collected PGT data from non-clinical adults varying in traits of autism and schizophrenia (schizotypy). 576 undergraduate students completed an online survey consisting of the Schizotypal Personality Questionnaire – Brief Revised, the Autism Spectrum Quotient, and the PGT. Results Subclinical autism and schizotypy traits were highly positively correlated. However, only schizotypy scores were significantly predictive of reporting more pattern glare (PG) illusions. When assessing the subcomponents of the schizotypy and autism scores, positive and disorganised schizotypy traits were predictive of reporting more PG illusions. Whereas, subclinical autism factors were not predictive of PG illusions. Conclusions High schizotypy performed the PGT in a manner consistent with behavioural hyperexcitability. The PGT distinguished subclinical autistic traits from schizotypy, suggesting potential clinical application.

COMPARATIVE EVALUATION OF PARENTAL PERCEPTIONS OF THE ORAL HEALTH-RELATED QUALITY OF LIFE OF AUTISTIC AND NON-AUTISTIC CHILDREN AFTER FULL MOUTH REHABILITATION UNDER GENERAL ANESTHESIA

Objectives: To compare the parental perceptions of the oral health-related quality of life (OHRQOL) of autistic and non-autistic children after full mouth rehabilitation under general anesthesia (GA). Methods and Materials: The study included 114 autistic children and 116 children without autism. Two years after receiving therapy under GA, participating parents completed a condensed version of the Perceptions Questionnaire (P-CPQ) and Family Impact Scale (FIS). Demographic data was collected. Oral symptoms, social health, psychology, functional limitation, and family affect ratings. Mean, standard deviation and statistical differences between groups were analyzed using SPSS. Results: Children with autism received higher overall P-CPQ scores than children without autism, according to the frequency distribution of the P-CPQ for parental perception when children with and without autism were compared. In all four domains, when scores were compared according to the domain, there was no statistically significant difference in the scores. According to the FIS frequency distribution, children with autism had higher total FIS scores than children without the condition. The change was not statistically significant, though. Only parental emotions showed a statistically significant difference when scores were examined by domain. Conclusion: Children with autism and children without autism score the same on the P-CPQ, indicating that the impact of comprehensive rehabilitation under GA is positive for both types of children. Parent emotions may not change immediately following the complete rehabilitation under GA which may be required to be handled separately to boost the confidence of the patient. Keywords: Autistic, children, general anesthesia, parents, perception

Psychotic and autistic traits among magicians and their relationship with creative beliefs.

There is a common perception that creativity is associated with psychopathology. Previous studies have shown that members of creative groups such as comedians, artists and scientists scores higher than the norm on psychotic traits, and scientists in STEM (science, technology, engineering and mathematics) fields score highly on autistic traits. To test whether magicians, a creative group that has not been studied before, also score highly on psychopathological traits and autism, and to test the associations of creative self-efficacy and creative identity with schizotypal and autistic traits among magicians. A sample of 195 magicians and 233 people from the general population completed measures of schizotypal traits (Oxford-Liverpool Inventory of Feelings and Experiences) and autism (Abridged Version of the Autism-Spectrum Quotient), as well as the Short Scale of Creative Self. Magicians were also compared with other creative groups with respect to schizotypal traits, based on previously published data. Magicians scored lower than the general population sample on three of the four schizophrenia measures (cognitive disorganisation, introvertive anhedonia and impulsive nonconformity) but did not differ with respect to unusual experiences or autism scores. Magicians scored higher on creative self-efficacy and creative personal identity than the general sample. Magicians' scores on schizotypal traits were largely lower than those of other creative groups. Originality of magic was positively correlated with unusual experiences (r = 0.208), creative self-efficacy (r = 0.251) and creative identity (r = 0.362). This is the first study to show a creative group with lower scores than norms on psychotic traits. The results highlight the unique characteristics of magicians and the possible myriad associations between creativity and mental disorders among creative groups.

Innovative ideological and political education for intervention in autism

BackgroundCollege students are among the high-risk population for autism, making it crucial to explore effective intervention methods for their development. This study aims to provide effective intervention strategies and support through innovative ideological and political education for college students with autism.Participants and MethodsThe study included 100 college students with autism who received innovative ideological and political education as the experimental group, and another 100 college students with autism as the control group. The Autism Diagnostic Observation Schedule (ADOS) was used to evaluate both groups, and the innovative ideological and political education intervention was conducted. The intervention consisted of 4 cycles as one treatment course with 5 days in one cycle. Autism scores were tested for both groups at each cycle until three treatment courses were completed.ResultsAfter one treatment course, the average scores for the experimental and control groups were 74 and 73, respectively. After three treatment courses, the average scores were 58 and 72 for the experimental and control groups, respectively. The experimental group showed significant improvement in autism symptoms and enhanced social and communication abilities after receiving the innovative ideological and political education intervention. There were no significant changes in autism symptoms and social abilities in the control group.ConclusionsInnovative ideological and political education has a positive intervention effect on autism among college students. These research findings provide evidence-based intervention methods and support for college students with autism, helping them better integrate into social environments and develop their potential.

Well-being spectrum traits are associated with polygenic scores for autism.

Individuals with autism spectrum disorder (ASD) tend to experience lower well-being as demonstrated mostly for children and adolescents in epidemiological studies. A further investigation of inclusive well-being, in terms of five well-being spectrum (5-WBS) traits including neuroticism, depression, loneliness, life satisfaction, and positive affect, among adults with ASD may deepen our understanding of their well-being, and lead to the possibility to further modify societal supportive mechanisms for individuals with ASD. This study aims to investigate if a genetic predisposition for ASD is associated with 5-WBS traits using polygenic risk score (PRS) analysis. PRS for ASD were calculated based on the latest genome-wide association study of ASD by the Psychiatric Genetics Consortium (18,381 cases, 27,969 controls) and were created in the independent cohort UK Biobank. Regression analyses were performed to investigate the association between ASD PRS and 5-WBS traits in the UK Biobank population including 337,423 individuals. ASD PRS were significantly associated with all 5-WBS traits, showing a positive association with the negative WBS traits, neuroticism (max R2 = 0.04%, p < 1 × 10-4 ), depression (max R2 = 0.06%, p < 1 × 10-4 ), loneliness (max R2 = 0.04%, p < 1 × 10-4 ), and a negative association with the positive WBS traits, life satisfaction (max R2 = 0.08%, p < 1 × 10-4 ), positive affect (max R2 = 0.10%, p < 1 × 10-4 ). The findings suggest that adults carrying a high load of risk single nucleotide peptides (SNPs) for ASD are more likely to report decreased well-being. The study demonstrates a considerable connection between susceptibility to ASD, its underlying genetic etiology and well-being.

The Covid-19 pandemic had polarizing effects on trait scores depending on a person's resilience and predispositions: A longitudinal prospective study

While Covid-19 is, first and foremost, a pernicious physical illness, its highly contagious nature has led to significant disruption in social life and psychological stress, occasionally resulting in dire mental health consequences that are still not fully understood. To address this issue, a prospective longitudinal design study was conducted by administering standard self-reporting questionnaires covering the NEO-five factor inventory (NEO-FFI), shyness, alexithymia, autism quotient, anxiety, depression, and sensory processing sensitivity (SPS). A total of 114 participants (of which 71.93% were females) with an average age of 30.29 (standard deviation = 11.04) completed the survey before and a few months after the pandemic. Results revealed the distribution of population scores to become more extreme in either positive or negative trait directions despite the stability of average trait scores across the population. Higher resilience was found to be positively correlated with improved trait scores post-pandemic but corona anxiety score was not correlated with trait score changes. In addition, in the subjects with moderate negative trait scores, agreeableness and autism scores and in subjects with high negative trait scores, openness, SPS and shyness scores were significantly correlated with trait scores changes post-pandemic. These results reveal the nuanced effects of the pandemic on the people's psychological well-being and highlight vulnerabilities for certain groups despite the overall stability of population that needs to be taken into account for mental health policies going forward.

The physical and psychiatric health conditions related to autism genetic scores, across genetic ancestries, sexes and age-groups in electronic health records

BackgroundAlthough polygenic scores (PGS) for autism have been related to various psychiatric and medical conditions, most studies to date have been conducted in research ascertained populations. We aimed to identify the psychiatric and physical conditions associated with autism PGS in a health care setting.MethodsWe computed PGS for 12,383 unrelated participants of African genetic ancestry (AF) and 65,363 unrelated participants of European genetic ancestry (EU) from Vanderbilt’s de-identified biobank. Next, we performed phenome wide association studies of the autism PGS within these two genetic ancestries.ResultsSeven associations surpassed the Bonferroni adjusted threshold for statistical significance (p = 0.05/1374 = 3.6 × 10−5) in the EU participants, including mood disorders (OR (95%CI) = 1.08(1.05 to 1.10), p = 1.0 × 10−10), autism (OR (95%CI) = 1.34(1.24 to 1.43), p = 1.2 × 10–9), and breast cancer (OR (95%CI) = 1.09(1.05 to 1.14), 2.6 × 10−5). There was no statistical evidence for PGS-phenotype associations in the AF participants. Conditioning on the diagnosis of autism or on median body mass index (BMI) did not impact the strength of the reported associations. Although we observed some sex differences in the pattern of associations, there was no significant interaction between sex and autism PGS. Finally, the associations between autism PGS and autism diagnosis were stronger in childhood and adolescence, while the associations with mood disorders and breast cancer were stronger in adulthood.DiscussionOur findings indicate that autism PGS is not only related to autism diagnosis but may also be related to adult-onset conditions, including mood disorders and some cancers.ConclusionsOur study raises the hypothesis that genes associated with autism may also increase the risk for cancers later in life. Future studies are necessary to replicate and extend our findings.

25-hydroxyvitamin D Level in Autism Spectrum Disorders and the Efficacy of Vitamin D Supplementation in Saudi Autistic Children

Background: Autism spectrum disorder (ASD) is a frequent developmental disease characterized by defects in nonverbal and verbal communication, pervasive deficits in social interaction, and stereotyped patterns of activities and interests. Previous researches reported vitamin D deficiency in autistic children; however, there is a deficiency of vitamin D supplementation trials in ASD children. This study aimed to assess vitamin D levels in ASD children and the effects of vitamin D supplementation on behavior and ASD score severity.&#x0D; Methods: Eleven Saudi autistic children (9 males and 2 females) with ages ranged from 4 to 12 years were included in this prospective study during the period from January to July 2022. Children with ASD obtained from Will Be center for Special Needs and The Leading Academy for Autism. The study was carried out in two stages. In the first stage, 25-hydroxyvitamin D serum levels and autism severity via Gilliam Autism Rating Scale (GARS) were estimated. Then participants who fulfilled the inclusion criteria (9 out of 11) were included and given vitamin D supplements for three months. During treatment, ASD child behavior was observed. For the second stage, after treatment, changes in vitamin D level and autism score severity were evaluated.&#x0D; Results: A total of 11 autistic children participated; two of them had vitamin D levels that were &gt; 80 nmol/L excluded. Out of 9 ASD included 5 cases had deficiency and 4 cases had severe deficiency of vitamin D (55.56% and 44.44%). Before treatment, ASD severities were above average (n=1, 11.11%), average (n=6, 66.67%), and low severity (n=3, 33.33%). After 3 months of vitamin D treatment, vitamin D serum levels were sufficient in 2 patients (22.22%) and insufficient in 7 cases (77.78%). Meanwhile, ASD severity had no clear improvement following vitamin D supplementation with 7 (77.78%) cases showed average severity and 2 (22.22%) cases with low severity. Nevertheless, the specialist clarified that there was an enhancement in some behaviors and responses for most patients. After treatment, there was a significance increased in 25-hydroxyvitamin D serum levels and a decrease in ASD severity compared to its level before treatment.&#x0D; Conclusions: Vitamin D levels are insufficient in 82% of ASD children (9 out of 11). Of 9 ASD patients; vitamin D levels were deficiency and severe deficiency and ASD severities were average and low severity. After treatment, vitamin D level was sufficient only in 2 patients (22.22%) and only one ASD case had improved in ASD score (Average to low). Nevertheless, specialist reported enhancement in some behaviors and responses for most patients. Nutritional interventions with vitamin D make a little difference in autistic children's life by reducing their symptoms.

Examining the correlation between misophonia symptoms and autistic traits in general population

Introduction: The purpose of the present study was to investigation the relationship between misophonia symptoms and autistic traits in adults. In accordance with this investigation, the purpose of the present study was to determine whether misophonia is a symptom of autism. Method: The study included 445 participants without psychiatric disorders or hearing impairments. Self-report questionnaires were utilized to evaluate the severity of misophonia symptoms and autistic traits. On the basis of the results of the self-report questionnaires, statistical analyses were conducted. Results: Misophonia scores were found to be higher in females than in males but did not correlate with age, smoking, or alcohol consumption. Examining the autistic characteristics reveals that gender, age, and smoking have no effect on the total autism scores. Examining the association between the degree of misophonia and autistic traits reveals that they have a considerable impact on one another. Discussion: Our findings indicate that there is a correlation between the severity of misophonia and autistic traits. However, our limitations and the fact that some of our results differ from those of previous research indicate that additional research is necessary in this area.

Early manifestations of genetic liability for ADHD, autism and schizophrenia at ages 18 and 24 months.

ADHD and autism are neurodevelopmental conditions, for which non-specific precursors or early signs include difficulties with language and motor skills, and differences in temperament in the first and second year of life. These early features have also been linked to later diagnosis of schizophrenia which is widely considered to have neurodevelopmental origins. Given that ADHD, autism and schizophrenia are all highly heritable, we tested the hypothesis that in the general population, measures of toddler language development, motor development and temperament are associated with genetic liability to ADHD, autism and/or schizophrenia. Data were analysed from the Avon Longitudinal Study of Parents and Children (ALSPAC) which included motor development scores at age 18 months and language development and temperament scores at age 24 months (N=7498). Genetic liability was indexed by polygenic risk scores (PGS) for ADHD, autism and schizophrenia. ADHD PGS were associated with specific temperament scales (higher activity β=0.07, 95% CI=0.04, 0.09 and lower withdrawal β=-0.05, 95% CI=-0.07, -0.02) as well as better gross motor scores (β=0.04, 95% CI=0.01, 0.06). Schizophrenia PGS were associated with one specific temperament scale (negative mood β=0.04, 95% CI=0.02, 0.07). We did not find strong evidence of association of autism PGS with any of the toddler measures; there was also not strong evidence of association with motor or language delays for any of the PGS. This study suggests that some specific aspects of early temperament and gross motor differences in the general population could represent part of the early manifestation of genetic liability to neurodevelopmental conditions.

Associations Between Pregnancy-Related Predisposing Factors for Offspring Neurodevelopmental Conditions and Parental Genetic Liability to Attention-Deficit/Hyperactivity Disorder, Autism, and Schizophrenia

Several maternal exposures during pregnancy are considered predisposing factors for offspring neurodevelopmental conditions. However, many of these exposures may be noncausal and biased by maternal genetic liability. To assess whether pregnancy-related predisposing factors for offspring neurodevelopmental conditions are associated with maternal genetic liability for attention-deficit/hyperactivity disorder (ADHD), autism, and schizophrenia and to compare associations for maternal genetic liability with those for paternal genetic liability, which could indicate that paternal exposures are not suitable negative controls for maternal exposures. The Norwegian Mother, Father and Child Cohort Study (MoBa) is a population-based pregnancy cohort that recruited parents from June 1999 to December 2008. Polygenic scores (PGS) for ADHD, autism, and schizophrenia were derived in mothers and fathers. The associations between maternal PGS and 37 pregnancy-related measures were estimated, and these results were compared with those from paternal PGS predicting paternal measures during the mother's pregnancy. Analysis took place between March 2021 and March 2022. PGS for ADHD, autism, and schizophrenia, calculated (using discovery effect size estimates and threshold of P < .05) from the largest available genome-wide association studies. Self-reported pregnancy-related measures capturing lifestyle behaviors, metabolism, infectious and autoimmune diseases, other physical health conditions, and medication use. Data were available for up to 14 539 mothers (mean [SD] age, 30.00 [4.45] years) and 14 897 fathers (mean [SD] age, 32.46 [5.13] years) of European ancestry. Modest but robust associations were observed between specific pregnancy-related measures and maternal PGS, including ADHD PGS with asthma (odds ratio [OR], 1.15 [95% CI, 1.06-1.25]), smoking (OR, 1.26 [95% CI, 1.19-1.33]), prepregnancy body mass index (β, 0.25 [95% CI, 0.18-0.31]), pregnancy weight gain (β, 0.20 [95% CI, 0.10-0.30]), taking folate (OR, 0.92 [95% CI, 0.88-0.96]), and not taking supplements (OR, 1.09 [95% CI, 1.04-1.14]). Schizophrenia PGS was associated with coffee consumption (OR, 1.09 [95% CI, 1.05-1.12]), smoking (OR, 1.12 [95% CI, 1.06-1.19]), prepregnancy body mass index (β, -0.18 [95% CI, -0.25 to -0.11]), and pregnancy weight gain (β, 0.17 [95% CI, 0.07-0.27]). All 3 PGSs associated with symptoms of depression/anxiety (ADHD: OR, 1.15 [95% CI, 1.09-1.22]; autism: OR, 1.13 [95% CI, 1.06-1.19]; schizophrenia: OR, 1.13 [95% CI, 1.07-1.20]). Associations were largely consistent for maternal and paternal PGS, except ADHD PGS and smoking (fathers: OR, 1.13 [95% CI, 1.09-1.17]). In this study, genetic liability to neurodevelopmental conditions that is passed from mothers to children was associated with several pregnancy-related factors and may therefore confound associations between these pregnancy-related factors and offspring neurodevelopment that have previously been thought to be causal. It is crucial that future study designs account for genetic confounding to obtain valid causal inferences so that accurate advice can be given to pregnant individuals.

Diagnosing autism in low-income countries: Clinical record-based analysis in Sri Lanka.

Use of autism diagnosing standards in low-income countries (LICs) are restricted due to the high price and unavailability of trained health professionals. Furthermore, these standards are heavily skewed towards developed countries and LICs are underrepresented. Due to such constraints, many LICs use their own ways of assessing autism. This is the first retrospective study to analyze such local practices in Sri Lanka. The study was conducted at Ward 19B of Lady Ridgeway Hospital (LRH) using the clinical forms filled for diagnosing ASD. In this study, 356 records were analyzed, from which 79.5% were boys and the median age was 33 months. For each child, the clinical form together with the Childhood Autism Rating Scale (CARS) value were recorded. In this study, a Clinically Derived Autism Score (CDAS) is obtained from the clinical forms. Scatter plot and Pearson product moment correlation coefficient were used to benchmark CDAS with CARS, and it was found CDAS to be positively and moderately correlated with CARS. In identifying the significant variables, a logistic regression model was built based on clinically observed data and it evidenced that "Eye Contact," "Interaction with Others," "Pointing," "Flapping of Hands," "Request for Needs," "Rotate Wheels," and "Line up Things" variables as the most significant variables in diagnosing autism. Based on these significant predictors, the classification tree was built. The pruned tree depicts a set of rules, which could be used in similar clinical environments to screen for autism. LAY SUMMARY: Screening and diagnosing autism in low-income countries such as Sri Lanka has always been a challenge due to limited resources and not being able to afford global standards. Due to these challenges, locally developed clinical forms have been used. This study is the first to analyze a clinical record set for autism in Sri Lanka to benchmark the local clinic form with a global standard. Furthermore, this study identifies the most significant diagnostic symptoms for children and based on these significant features, a simple set of IF-THEN rules are derived which could be used for screening autism in a similar clinical environment by health officials in the absence of consultants.

Investigating Direct and Indirect Genetic Effects in Attention-Deficit/Hyperactivity Disorder Using Parent-Offspring Trios

BackgroundAttention-deficit/hyperactivity disorder (ADHD) is highly heritable, but little is known about the relative effects of transmitted (i.e., direct) and nontransmitted (i.e., indirect) common variant risks. Using parent-offspring trios, we tested whether polygenic liability for neurodevelopmental and psychiatric disorders and lower cognitive ability is overtransmitted to ADHD probands. We also tested for indirect or genetic nurture effects by examining whether nontransmitted ADHD polygenic liability is elevated. Finally, we examined whether complete trios are representative of the clinical ADHD population. MethodsPolygenic risk scores (PRSs) for ADHD, anxiety, autism, bipolar disorder, depression, obsessive-compulsive disorder, schizophrenia, Tourette syndrome, and cognitive ability were calculated in UK control subjects (n = 5081), UK probands with ADHD (n = 857), their biological parents (n = 328 trios), and also a replication sample of 844 ADHD trios. ResultsADHD PRSs were overtransmitted and cognitive ability and obsessive-compulsive disorder PRSs were undertransmitted. These results were independently replicated. Overtransmission of polygenic liability was not observed for other disorders. Nontransmitted alleles were not enriched for ADHD liability compared with control subjects. Probands from incomplete trios had more hyperactive-impulsive and conduct disorder symptoms, lower IQ, and lower socioeconomic status than complete trios. PRS did not vary by trio status. ConclusionsThe results support direct transmission of polygenic liability for ADHD and cognitive ability from parents to offspring, but not for other neurodevelopmental/psychiatric disorders. They also suggest that nontransmitted neurodevelopmental/psychiatric parental alleles do not contribute indirectly to ADHD via genetic nurture. Furthermore, ascertainment of complete ADHD trios may be nonrandom, in terms of demographic and clinical factors.

Autistic traits in trichotillomania.

IntroductionAlthough many variables have been examined as potentially contributing to the manifestation of trichotillomania (TTM), little research has focused on problems in social interactions. Hair pulling has many similarities to the stereotypies seen in autism spectrum disorders (ASD), and thus the present study examined autistic traits in adults with trichotillomania.MethodsFifty nontreatment‐seeking adults with DSM‐5 TTM were recruited. Participants completed standard diagnostic interviews, basic demographic information, and symptom inventories about TTM. Autistic traits were quantified using the Brief Autism‐ Spectrum Quotient (AQ‐10) which screens for autistic traits.ResultsThe sample comprised 50 participants, mean (standard deviation) age of 30.2 (5.6) years, 10% being male, 86% female, and 4% nonbinary. Eight of the participants had a history of major depressive disorder and six had a history of an anxiety disorder. No one had current or lifetime obsessive‐compulsive disorder. The mean AQ10 score was 3.5 (2.0), with 14.6% scoring 6 or greater. Autism scores correlated significantly only with family dysfunction and not with symptom severity or impulsivity.ConclusionsThis study examined autistic traits in a community‐based sample of adults with TTM and found elevated rates of probable ASD (based on a self‐report screening tool) among those with TTM. These results highlight the need to carefully screen for autistic traits in those with TTM. To what extent these traits may influence response to treatment, however, remains unclear.

Why iPlay: The Relationships of Autistic and Schizotypal Traits With Patterns of Video Game Use.

Video games are popular and ubiquitous aspects of human culture, but their relationships to psychological and neurophysiological traits have yet to be analyzed in social-evolutionary frameworks. We examined the relationships of video game usage, motivations, and preferences with autistic and schizotypal traits and two aspects of neurophysiology, reaction time and targeting time. Participants completed the Autism Quotient, Schizotypal Personality Questionnaire, a Video Game Usage Questionnaire, and two neurophysiological tasks. We tested in particular the hypotheses, motivated by theory and previous work, that: (1) participants with higher autism scores would play video games more, and participants with higher schizotypy scores would play video games less; and (2) autism and positive schizotypy would be associated with opposite patterns of video game use, preferences and motivations. Females, but not males, with higher autism scores played more video games, and exhibited evidence of relatively male-typical video game genre preferences and motivations. By contrast, positive schizotypy was associated with reduced video game use in both genders, for several measures of game use frequency. In line with previous findings, males played video game more than females did overall, preferred action video games, and exhibited faster reaction and targeting times. Females preferred Puzzle and Social Simulation games. Faster reaction and targeting times were associated with gaming motives related to skill development and building behavior. These findings show that gaming use and patterns reflect aspects of psychology, and gender, related to social cognition and imagination, as well as aspects of neurophysiology. More generally, the results suggest that video game use is notably affected by levels of autistic and schizotypal traits, and that video games may provide an evolutionarily novel medium for imaginative play in which immersive play experiences can be decoupled from social interaction.