scholarly journals Neuropsychiatric Phenotypes and a Distinct Constellation of ASD Features in 3q29 Deletion Syndrome: Results from the 3q29 Registry

2018 ◽  
Author(s):  
Rebecca M Pollak ◽  
Melissa M Murphy ◽  
Michael P Epstein ◽  
Michael E Zwick ◽  
Cheryl Klaiman ◽  
...  
Keyword(s):  
General Population ◽  
Social Motivation ◽  
Autism Spectrum ◽  
Repetitive Behaviors ◽  
Self Report ◽  
Deletion Syndrome ◽  
Social Responsiveness ◽  
Research Perspective ◽  
T Score ◽  
Increased Risk

ABSTRACTBackgroundThe 1.6 Mb 3q29 deletion is associated with neurodevelopmental and psychiatric phenotypes, including increased risk for autism spectrum disorder (ASD) and a 20-40-fold increased risk for schizophrenia. However, the phenotypic spectrum of the deletion, particularly with respect to ASD, remains poorly described.MethodsWe ascertained individuals with 3q29 deletion syndrome (3q29Del, “cases”, n=93, 58.1% male) and typically developing controls (n=64, 51.6% male) through the 3q29 registry (https://3q29deletion.patientcrossroads.org). Self-report of neuropsychiatric illness was evaluated for 93 cases. Subsets of participants were evaluated with the Social Responsiveness Scale (SRS, n=48 cases, 56 controls), Social Communication Questionnaire (SCQ, n=33 cases, 46 controls), Autism Spectrum Screening Questionnaire (ASSQ, n=24 cases, 35 controls), and Achenbach Behavior Checklists (n=48 cases, 57 controls).Results3q29Del cases report a higher prevalence of autism diagnoses versus the general population (29.0% vs. 1.47%, p<2.2E-16). Notably, 3q29 deletion confers a greater influence on risk for ASD in females (OR=41.8, p=4.78E-05) than in males (OR=24.6, p=6.06E-09); this is aligned with the reduced male:female bias from 4:1 in the general population to 2:1 in our study sample. Although 71% of cases do not report a diagnosis of ASD, there is evidence of significant social disability (3q29Del SRS T-score=71.8, control SRS T-score=45.9, p=2.16E-13). Cases also report increased frequency of generalized anxiety disorder compared to controls (28.0% vs. 6.2%, p=0.001), which is mirrored by elevated mean scores on the Achenbach DSM-oriented sub-scales (p<0.001). Finally, cases show a distinct constellation of ASD features on the SRS as compared to idiopathic ASD, with substantially elevated Restricted Interests and Repetitive Behaviors, but only mild impairment in Social Motivation.ConclusionsOur sample of 3q29Del is significantly enriched for ASD diagnosis, especially among females, and features of autism may be present even when an ASD diagnosis is not reported. Further, the constellation of ASD features in this population is distinct from idiopathic ASD, with substantially less impaired social motivation. Our study implies that ASD evaluation should be the standard of care for individuals with 3q29Del. From a research perspective, the distinct ASD subtype present in 3q29Del is an ideal entry point for expanding understanding of ASD.

Individual Differences in Autism Traits, Personality, and Emotional Responsiveness to Music in the General Population

2021 ◽  
pp. 102986492098816
Author(s):  
Shalini Sivathasan ◽  
Gwenaëlle Philibert-Lignières ◽  
Eve-Marie Quintin
Keyword(s):  
General Population ◽  
Autistic Traits ◽  
Broader Autism Phenotype ◽  
Autism Spectrum ◽  
Self Report ◽  
Autism Spectrum Quotient ◽  
Social Responsiveness ◽  
Emotional Experiences ◽  
Emotional Responsiveness ◽  
The Relationship

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.

scholarly journals The Effect of Maternal Immune Activation on Social Play-Induced Ultrasonic Vocalization in Rats

2021 ◽  
Vol 11 (3) ◽  
pp. 344
Author(s):  
Kinga Gzielo ◽  
Agnieszka Potasiewicz ◽  
Ewa Litwa ◽  
Diana Piotrowska ◽  
Piotr Popik ◽  
...  
Keyword(s):  
Immune Activation ◽  
Social Play ◽  
Autism Spectrum ◽  
Repetitive Behaviors ◽  
Male Rats ◽  
Poly I:C ◽  
Maternal Immune Activation ◽  
Increased Risk ◽  
Adolescent Rats ◽  
The Impact

Prenatal maternal infection is associated with an increased risk of various neurodevelopmental disorders, including autism spectrum disorders (ASD). Maternal immune activation (MIA) can be experimentally induced by prenatal administration of polyinosinic:polycytidylic acid (poly I:C), a synthetic viral-like double-stranded RNA. Although this MIA model is adopted in many studies, social and communicative deficits, included in the first diagnostic criterion of ASD, are poorly described in the offspring of poly(I:C)-exposed dams. This study aimed to characterize the impact of prenatal poly(I:C) exposure on socio-communicative behaviors in adolescent rats. For this purpose, social play behavior was assessed in both males and females. We also analyzed quantitative and structural changes in ultrasonic vocalizations (USVs) emitted by rats during the play test. Deficits of social play behaviors were evident only in male rats. Males also emitted a significantly decreased number of USVs during social encounters. Prenatal poly(I:C) exposure also affected acoustic call parameters, as reflected by the increased peak frequencies. Additionally, repetitive behaviors were demonstrated in autistic-like animals regardless of sex. This study demonstrates that prenatal poly(I:C) exposure impairs socio-communicative functioning in adolescent rats. USVs may be a useful tool for identifying early autistic-like abnormalities.

scholarly journals Sex differences in brain structure: An autism twin study on restricted and repetitive behaviors

2018 ◽  
Author(s):  
Annelies van’t Westeinde ◽  
Élodie Cauvet ◽  
Roberto Toro ◽  
Ralf Kuja-Halkola ◽  
Janina Neufeld ◽  
...  
Keyword(s):  
Autism Spectrum Disorder ◽  
Sex Differences ◽  
Autism Spectrum ◽  
Repetitive Behaviors ◽  
Spectrum Disorder ◽  
Brain Anatomy ◽  
Social Responsiveness ◽  
Autism Symptoms ◽  
Twin Design ◽  
Restricted And Repetitive Behaviors

AbstractFemales with autism spectrum disorder have been reported to exhibit fewer and less severe restricted and repetitive behaviors and interests compared to males. This difference might indicate sex specific alterations of brain networks involved in autism symptom domains, especially within cortico-striatal and sensory integration networks. This study used a well-controlled twin design to examine sex differences in brain anatomy in relation to repetitive behaviors. In 75 twin pairs (n=150, 62 females, 88 males) enriched for autism spectrum disorder (n=32), and other neurodevelopmental disorders (n =32), we explored the association of restricted and repetitive behaviors and interests – operationalized by the Autism Diagnostic Interview-Revised (C domain) and the Social Responsiveness Scale-2 (Restricted Interests and Repetitive Behavior subscale), with cortical volume, surface area and thickness of neocortical, sub-cortical and cerebellar networks. Cotwin control analyses revealed within-pair associations between RRBI symptoms and the right intraparietal sulcus and right orbital gyrus in females only. These findings endorse the importance of investigating sex differences in the neurobiology of autism symptoms, and indicate different etiological pathways underlying restricted and repetitive behaviors and interests in females and males.

Outcomes of an emotion regulation intervention group in young adults with autism spectrum disorder

2019 ◽  
Vol 83 (3) ◽  
pp. 259-277 ◽  
Author(s):  
Kathrin Hartmann ◽  
Maria R. Urbano ◽  
C. Teal Raffaele ◽  
Nicole L. Kreiser ◽  
Takeshia V. Williams ◽  
...  
Keyword(s):  
Young Adults ◽  
Emotion Regulation ◽  
Social Communication ◽  
Group Treatment ◽  
Intervention Group ◽  
Autism Spectrum ◽  
Self Report ◽  
Social Responsiveness ◽  
Exploratory Research ◽  
The Social

Individuals on the autism spectrum experience difficulties in social relationships and emotion regulation. The aim of the present exploratory research study was to develop and explore the effectiveness of a manualized emotion regulation group intervention for autistic adults to improve emotion regulation and social communication. The group participants included seven young adults (age > 18 years) on the autism spectrum. Primary outcome measures were the Social Responsiveness Scale (SRS-2) and the Emotion Regulation Questionnaire (ERQ). Group participants reported significant improvements on the Social Communication and Interaction subscale (SCI; t = 2.601, p = .041), the Social Awareness (AWR; t = 3.163, p = .019), and the Social Cognition (COG; t = 4.861, p = .003) subscales of the SRS-2: Self Report. Overall, this study provides preliminary evidence of the effectiveness of a group treatment approach that focuses on emotion regulation to improve social interactions for young adults on the autism spectrum.

scholarly journals Prevalence of ADHD in Accident Victims: Results of the PRADA Study

2019 ◽  
Vol 8 (10) ◽  
pp. 1643 ◽  
Author(s):  
Kittel-Schneider ◽  
Wolff ◽  
Queiser ◽  
Wessendorf ◽  
Meier ◽  
...  
Keyword(s):  
General Population ◽  
Incidence Rate ◽  
Adult Adhd ◽  
Demographic Data ◽  
Trauma Surgery ◽  
Self Report ◽  
Stimulant Treatment ◽  
Surgery Patient ◽  
Increased Risk ◽  
History Of

Background: Recent research has shown an increased risk of accidents and injuries in ADHD patients, which could potentially be reduced by stimulant treatment. Therefore, the first aim of our study was to evaluate the prevalence of adult ADHD in a trauma surgery population. The second aim was to investigate accident mechanisms and circumstances which could be specific to ADHD patients, in comparison to the general population. Methods: We screened 905 accident victims for ADHD using the ASRS 18-item self-report questionnaire. The basic demographic data and circumstances of the accidents were also assessed. Results: Prevalence of adult ADHD was found to be 6.18% in our trauma surgery patient sample. ADHD accident victims reported significantly higher rates of distraction, stress and overconfidence in comparison to non-ADHD accident victims. Overconfidence and being in thoughts as causal mechanisms for the accidents remained significantly higher in ADHD patients after correction for multiple comparison. ADHD patients additionally reported a history of multiple accidents. Conclusion: The majority of ADHD patients in our sample had not previously been diagnosed and were therefore not receiving treatment. The results subsequently suggest that general ADHD screening in trauma surgery patients may be useful in preventing further accidents in ADHD patients. Furthermore, psychoeducation regarding specific causal accident mechanisms could be implemented in ADHD therapy to decrease accident incidence rate.

scholarly journals Intranasal oxytocin treatment for social deficits and biomarkers of response in children with autism

2017 ◽  
Vol 114 (30) ◽  
pp. 8119-8124 ◽  
Author(s):  
Karen J. Parker ◽  
Ozge Oztan ◽  
Robin A. Libove ◽  
Raena D. Sumiyoshi ◽  
Lisa P. Jackson ◽  
...  
Keyword(s):  
Social Functioning ◽  
Placebo Treatment ◽  
Primary Outcome Measure ◽  
Autism Spectrum ◽  
Repetitive Behaviors ◽  
Social Responsiveness ◽  
Social Deficits ◽  
Double Blind ◽  
Children With Asd ◽  
Social Abilities

Autism spectrum disorder (ASD) is characterized by core social deficits. Prognosis is poor, in part, because existing medications target only associated ASD features. Emerging evidence suggests that the neuropeptide oxytocin (OXT) may be a blood-based biomarker of social functioning and a possible treatment for ASD. However, prior OXT treatment trials have produced equivocal results, perhaps because of variability in patients’ underlying neuropeptide biology, but this hypothesis has not been tested. Using a double-blind, randomized, placebo-controlled, parallel design, we tested the efficacy and tolerability of 4-wk intranasal OXT treatment (24 International Units, twice daily) in 32 children with ASD, aged 6–12 y. When pretreatment neuropeptide measures were included in the statistical model, OXT compared with placebo treatment significantly enhanced social abilities in children with ASD [as measured by the trial’s primary outcome measure, the Social Responsiveness Scale (SRS)]. Importantly, pretreatment blood OXT concentrations also predicted treatment response, such that individuals with the lowest pretreatment OXT concentrations showed the greatest social improvement. OXT was well tolerated, and its effects were specific to social functioning, with no observed decrease in repetitive behaviors or anxiety. Finally, as with many trials, some placebo-treated participants showed improvement on the SRS. This enhanced social functioning was mirrored by a posttreatment increase in their blood OXT concentrations, suggesting that increased endogenous OXT secretion may underlie this improvement. These findings indicate that OXT treatment enhances social abilities in children with ASD and that individuals with pretreatment OXT signaling deficits may stand to benefit the most from OXT treatment.

scholarly journals Validating Three Common Self-Report Measures of Social Functioning: Implications for Autism Research

2021 ◽  
Author(s):  
Elizabeth A. Kaplan-Kahn ◽  
Natalie Russo ◽  
Grace Iarocci
Keyword(s):  
Social Functioning ◽  
Convergent Validity ◽  
Autism Spectrum ◽  
Self Report ◽  
Diagnostic Feature ◽  
Social Responsiveness ◽  
Latent Constructs ◽  
Diagnostic Labels ◽  
The Social ◽  
Spectrum Condition

Social functioning difficulties are a core diagnostic feature of autism spectrum condition (ASC) and are commonly assessed in ASC research. Many measures have been created to assess the various dimensions of social functioning; thus, it is important to evaluate how each scale captures these latent constructs in order to integrate results from studies using different measures. The current brief report assessed the convergent validity (at the subscale level) of three commonly used social functioning scales in ASC research: The Autism Quotient, the Multidimensional Social Competence Scale, and the Social Responsiveness Scale. Amongst a sample of nonclinical adults, the scales showed robust convergent validity between theoretically related subscales, indicating sensitivity to variation in social functioning abilities across diagnostic labels.

scholarly journals A randomized placebo-controlled pilot trial shows that intranasal vasopressin improves social deficits in children with autism

2019 ◽  
Vol 11 (491) ◽  
pp. eaau7356 ◽  
Author(s):  
Karen J. Parker ◽  
Ozge Oztan ◽  
Robin A. Libove ◽  
Noreen Mohsin ◽  
Debra S. Karhson ◽  
...  
Keyword(s):  
Clinical Chemistry ◽  
Pilot Trial ◽  
Autism Spectrum ◽  
Repetitive Behaviors ◽  
Social Responsiveness ◽  
Target Dose ◽  
Preclinical Research ◽  
Social Impairments ◽  
Children With Asd ◽  
The Social

The social impairments of autism spectrum disorder (ASD) have a major impact on quality of life, yet there are no medications that effectively treat these core social behavior deficits. Preclinical research suggests that arginine vasopressin (AVP), a neuropeptide involved in promoting mammalian social behaviors, may be a possible treatment for ASD. Using a double-blind, randomized, placebo-controlled, parallel study design, we tested the efficacy and tolerability of a 4-week intranasal AVP daily treatment in 30 children with ASD. AVP-treated participants aged 6 to 9.5 years received the maximum daily target dose of 24 International Units (IU); participants aged 9.6 to 12.9 years received the maximum daily target dose of 32 IU. Intranasal AVP treatment compared to placebo enhanced social abilities as assessed by change from baseline in this phase 2 trial’s primary outcome measure, the Social Responsiveness Scale, 2nd Edition total score (SRS-2 T score; F1,20 = 9.853; P = 0.0052; ηp2 = 33.0%; Cohen’s d = 1.40). AVP treatment also diminished anxiety symptoms and some repetitive behaviors. Most of these findings were more pronounced when we accounted for pretreatment AVP concentrations in blood. AVP was well tolerated with minimal side effects. No AVP-treated participants dropped out of the trial, and there were no differences in the rate of adverse events reported between treatment conditions. Last, no changes from baseline were observed in vital signs, electrocardiogram tracings, height and body weight, or clinical chemistry measurements after 4 weeks of AVP treatment. These preliminary findings suggest that AVP has potential for treating social impairments in children with ASD.

scholarly journals Psychometric concerns with the 10-item Autism-Spectrum Quotient (AQ10) as a measure of trait autism in the general population

2020 ◽  
Vol 1 ◽  
Author(s):  
Emily C. Taylor ◽  
Lucy A. Livingston ◽  
Rachel A. Clutterbuck ◽  
Punit Shah
Keyword(s):  
General Population ◽  
Screening Tool ◽  
Clinical Sample ◽  
Autism Spectrum ◽  
Self Report ◽  
Clinical Samples ◽  
Future Research ◽  
Autism Spectrum Quotient ◽  
Internal Reliability ◽  
Diagnostic Screening

AbstractThe 10-item Autism-Spectrum Quotient (AQ10) is a self-report questionnaire used in clinical and research settings as a diagnostic screening tool for autism in adults. The AQ10 is also increasingly being used to quantify trait autism along a unitary dimension and correlated against performance on other psychological/medical tasks. However, its psychometric properties have yet to be examined when used in this way. By analysing AQ10 data from a large non-clinical sample of adults (n = 6,595), we found that the AQ10 does not have a unifactorial factor structure, and instead appears to have several factors. The AQ10 also had poor internal reliability. Taken together, whilst the AQ10 has important clinical utility in screening for diagnosable autism, it may not be a psychometrically robust measure when administered in non-clinical samples from the general population. Therefore, we caution against its use as a measure of trait autism in future research.

scholarly journals Co-Occurrence of ASD and ADHD Traits in an Adult Population

2017 ◽  
Vol 23 (12) ◽  
pp. 1407-1415 ◽  
Author(s):  
Maria Panagiotidi ◽  
Paul G. Overton ◽  
Tom Stafford
Keyword(s):  
General Population ◽  
Adult Adhd ◽  
Rating Scale ◽  
Adult Population ◽  
Autistic Traits ◽  
Population Based ◽  
Autism Spectrum ◽  
Self Report ◽  
Autism Spectrum Quotient ◽  
Common Etiology

Objective: ADHD and autism spectrum disorder (ASD) can be viewed as the extreme end of traits found in the general population. Clinical and genetic studies suggest that ADHD and ASD often co-occur and share genetic susceptibility. The aim of this study was to examine co-occurrence of ADHD and ASD traits in the general population. Method: In total, 334 participants were recruited from a population-based sample. Four questionnaires assessing current and retrospective ADHD and ASD traits were administered online: the Adult ADHD Self-Report Scale (ASRS) Symptom Checklist, the Wender Utah Rating Scale (WURS-25), the Broad Autism Phenotype Questionnaire (BAPQ), and the Autism Spectrum Quotient (AQ). Results: A significant correlation was found between ADHD and autistic traits. In particular, higher inattention and overall ADHD scores were associated with self-reported deficits in communication and social skills. Conclusion: Our findings are similar to results from studies on clinical populations, suggesting that ADHD and ASD might share common etiology.

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