Correction to: Attitudes among parents of persons with autism spectrum disorder towards information about genetic risk and future health

AbstractClinical relevance of genetic testing is increasing in autism spectrum disorder (ASD). Information about genetic risk may contribute to improved diagnostics, treatment and family planning, but may also be perceived as a burden. Knowledge about the families’ preferences with regard to genetic risk information is important for both health care professionals and policy makers. We investigated attitudes towards sharing information about genetic risk of ASD and knowledge about future health among parent members of the Norwegian Autism Association (N = 1455) using a questionnaire, and the relationships with parent and child characteristics, such as age, gender and ASD severity. Most preferred autonomy in deciding whom to inform about genetic risk of ASD (74.4%) and a minority supported extensive intra-familial disclosure of the genetic risk (41.1%). The majority agreed that it is an obligation to know as much as possible relevant for future health (58.0%) and only 51.7% agreed to a principle of a ‘right not to know’. In regression models, the attitudes were associated with opinions about benefits and harms of genetic testing (e.g., treatment, family planning, understanding of ASD pathology, insurance discrimination and family conflict). In sum, the findings show that most parents want to know as much as possible relevant for their children’s future health and keep their autonomy and intra-familial confidentiality about genetic risk information. Nearly half of the parents were not concerned with a “right not to know”. These attitudes can inform development of guidelines and bioethics in the age of genomic precision medicine.

Download Full-text

Identification of common genetic risk variants for autism spectrum disorder

Nature Genetics ◽

10.1038/s41588-019-0344-8 ◽

2019 ◽

Vol 51 (3) ◽

pp. 431-444 ◽

Cited By ~ 383

Author(s):

Jakob Grove ◽

◽

Stephan Ripke ◽

Thomas D. Als ◽

Manuel Mattheisen ◽

...

Keyword(s):

Autism Spectrum Disorder ◽

Genetic Risk ◽

Autism Spectrum ◽

Spectrum Disorder ◽

Risk Variants ◽

Genetic Risk Variants

Download Full-text

Concern for Another’s Distress in Toddlers at High and Low Genetic Risk for Autism Spectrum Disorder

Journal of Autism and Developmental Disorders ◽

10.1007/s10803-015-2505-7 ◽

2015 ◽

Vol 45 (11) ◽

pp. 3594-3605 ◽

Cited By ~ 15

Author(s):

Susan B. Campbell ◽

Nina B. Leezenbaum ◽

Emily N. Schmidt ◽

Taylor N. Day ◽

Celia A. Brownell

Keyword(s):

Autism Spectrum Disorder ◽

Genetic Risk ◽

Autism Spectrum ◽

Spectrum Disorder

Download Full-text

Developmental Changes in Empathic Concern and Self-Understanding in Toddlers at Genetic Risk for Autism Spectrum Disorder

Journal of Autism and Developmental Disorders ◽

10.1007/s10803-017-3192-3 ◽

2017 ◽

Vol 47 (9) ◽

pp. 2690-2702 ◽

Cited By ~ 10

Author(s):

Susan B. Campbell ◽

Elizabeth L. Moore ◽

Jessie Northrup ◽

Celia A. Brownell

Keyword(s):

Autism Spectrum Disorder ◽

Genetic Risk ◽

Autism Spectrum ◽

Empathic Concern ◽

Spectrum Disorder ◽

Developmental Changes

Download Full-text

Pharmacogenomics Factors Influencing the Effect of Risperidone on Prolactin Levels in Thai Pediatric Patients With Autism Spectrum Disorder

Frontiers in Pharmacology ◽

10.3389/fphar.2021.743494 ◽

2021 ◽

Vol 12 ◽

Author(s):

Yaowaluck Hongkaew ◽

Andrea Gaedigk ◽

Bob Wilffert ◽

Roger Gaedigk ◽

Wiranpat Kittitharaphan ◽

...

Keyword(s):

Autism Spectrum Disorder ◽

Risk Score ◽

Genetic Risk ◽

Dopamine D2 Receptor ◽

Genetic Risk Score ◽

D2 Receptor ◽

Kinase Domain ◽

Autism Spectrum ◽

Spectrum Disorder ◽

Risk Scores

We investigated the association between genetic variations in pharmacodynamic genes and risperidone-induced increased prolactin levels in children and adolescents with autism spectrum disorder (ASD). In a retrospective study, variants of pharmacodynamic genes were analyzed in 124 ASD patients treated with a risperidone regimen for at least 3 months. To simplify genotype interpretation, we created an algorithm to calculate the dopamine D2 receptor (DRD2) gene genetic risk score. There was no relationship between prolactin levels and single SNPs. However, the H1/H3 diplotype (A2/A2-Cin/Cin-A/G) of DRD2/ankyrin repeat and kinase domain containing 1 (ANKK1) Taq1A, DRD2 -141C indel, and DRD2 -141A>G, which had a genetic risk score of 5.5, was associated with the highest median prolactin levels (23 ng/ml). As the dose-corrected plasma levels of risperidone, 9-OH-risperidone, and the active moiety increased, prolactin levels in patients carrying the H1/H3 diplotype were significantly higher than those of the other diplotypes. DRD2 diplotypes showed significantly high prolactin levels as plasma risperidone levels increased. Lower levels of prolactin were detected in patients who responded to risperidone. This is the first system for describing DRD2 haplotypes using genetic risk scores based on their protein expression. Clinicians should consider using pharmacogenetic-based decision-making in clinical practice to prevent prolactin increase.

Download Full-text

Chronic Disease Risks in Young Adults With Autism Spectrum Disorder: Forewarned Is Forearmed

American Journal on Intellectual and Developmental Disabilities ◽

10.1352/1944-7558-116.5.371 ◽

2011 ◽

Vol 116 (5) ◽

pp. 371-380 ◽

Cited By ~ 71

Author(s):

Carl V Tyler ◽

Sarah C Schramm ◽

Matthew Karafa ◽

Anne S Tang ◽

Anil K Jain

Keyword(s):

Autism Spectrum Disorder ◽

Chronic Disease ◽

Cleveland Clinic ◽

Significant Risk ◽

Cost Effective ◽

Autism Spectrum ◽

Spectrum Disorder ◽

Future Health ◽

Adults With Autism ◽

Persons With Disabilities

Abstract An emerging, cost-effective method to examine prevalent and future health risks of persons with disabilities is electronic health record (EHR) analysis. As an example, a case-control EHR analysis of adults with autism spectrum disorder receiving primary care through the Cleveland Clinic from 2005 to 2008 identified 108 adults with autism spectrum disorder. In this cohort, rates of chronic disease included 34.9% for obesity, 31.5% for hyperlipidemia, and 19.4% for hypertension. Compared with a control cohort of patients from the same health system matched for age, sex, race, and health insurance status, adults with autism spectrum disorder were more likely to be diagnosed with hyperlipidemia (odds ratio = 2.0, confidence interval = 1.2–3.4, p = .012). Without intervention, adults with autism spectrum disorder appear to be at significant risk for developing diabetes, coronary heart disease, and cancer by midlife.

Download Full-text