scholarly journals Attitudes among parents of persons with autism spectrum disorder towards information about genetic risk and future health

2021 ◽  
Author(s):  
Jarle Johannessen ◽  
Terje Nærland ◽  
Sigrun Hope ◽  
Tonje Torske ◽  
Anett Kaale ◽  
...  
Keyword(s):  
Autism Spectrum Disorder ◽  
Genetic Testing ◽  
Family Planning ◽  
Genetic Risk ◽  
Autism Spectrum ◽  
Risk Information ◽  
Spectrum Disorder ◽  
Future Health ◽  
Genetic Risk Information ◽  
Right Not To Know

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.

Autism Spectrum Disorder and Genetic Testing: Parents’ Attitudes-Data from Turkish Sample

2020 ◽  
Author(s):  
Aynur Bütün Ayhan ◽  
Utku Beyazıt ◽  
Şenay Topuz ◽  
Çağla Zeynep Tunay ◽  
Maryam Nazhad Abbas ◽  
...  
Keyword(s):  
Autism Spectrum Disorder ◽  
Genetic Testing ◽  
Autism Spectrum ◽  
Spectrum Disorder

scholarly journals Identification of common genetic risk variants for autism spectrum disorder

2019 ◽  
Vol 51 (3) ◽  
pp. 431-444 ◽  
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

scholarly journals Family planning and family vision in mothers after diagnosis of a child with autism spectrum disorder

Autism ◽  
2015 ◽  
Vol 20 (5) ◽  
pp. 605-615 ◽  
Author(s):  
Noa Navot ◽  
Alicia Grattan Jorgenson ◽  
Ann Vander Stoep ◽  
Karen Toth ◽  
Sara Jane Webb
Keyword(s):  
Autism Spectrum Disorder ◽  
Family Planning ◽  
Autism Spectrum ◽  
Spectrum Disorder

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

2015 ◽  
Vol 45 (11) ◽  
pp. 3594-3605 ◽  
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

scholarly journals Cost-Effectiveness of Autism Diagnostic Based on Genetic Testing

2021 ◽  
Author(s):  
Wolfgang Rudolph-Rothfeld ◽  
Reinhard Vonthein
Keyword(s):  
Autism Spectrum Disorder ◽  
Early Intervention ◽  
Genetic Testing ◽  
Cost Effectiveness ◽  
Cost Effective ◽  
Autism Spectrum ◽  
Status Quo ◽  
Spectrum Disorder ◽  
Genetic Diagnostics ◽  
Genetic Tests

Abstract Background: Autism Spectrum Disorder (ASD) is a highly heritable polygenetic disorder with several degrees of handicap.Novel genetic diagnostics for Autism Spectrum Disorder promise an earlier diagnosis than psychometric diagnostics, but their cost-effectiveness is unproven.Objective: To model the clinical pathway from diagnosis to early intervention (EI) and outcome in scenarios with genetic diagnostics compared to just psychometric diagnosis that follows a current guideline (Status Quo). Methods: Early diagnosis based on genetic testing leads to more intensive and effective early intervention. Future scenarios assume genetic screening(Screening), genetic testing on request(GenADD), or genetic testing in cases with a family history of ASD(Predisposition). Simulations on Markov models using software TreeAge v. 2018 and parameters found in the literature. The time horizon reached from birth to the 15th year of life with cycle length 1 year. The models were stratified by autism severity, i.e. IQ initially below 70 or above. Effectiveness was both, dependency free life years (DFLY) gained by correct diagnosis and successful treatment, and the number of diagnosed patients that became independent after treatment. We choose the insurance view. Just direct costs for diagnostics and treatment were considered. Probabilistic sensitivity analyses (PSA) explore assumptions of different parameters, like the sensitivity of the genetic test, using the precisions stated in the literature or possible future developments. Results: Status Quo is the most cost-effective scenario with the current parameter values. The other scenarios follow in the order of Predisposition, GenADD, and Screening. All scenarios with genetic tests have a higher number of detection than Status Quo. Intensified early intervention may be cost effective with horizon 67 years. The currently high false positive rate of genetic testing might be detrimental to that. Discussion: Low precision of published parameter estimates led to wide confidence intervals for our estimates of cost-effectiveness. Our model shows that Screening and GenADD should not be an option for inaccurate genetic tests. Once they are more accurate, the potential of early intervention may unfold.Conclusion: Further evaluations with better data need to underpin the current results.

scholarly journals What are the Informational Preferences about Genetic Testing of Parents with Children with Autism Spectrum Disorder?

2018 ◽  
Vol 23 (suppl_1) ◽  
pp. e37-e37
Author(s):  
Fanny Lacelle-Webster ◽  
Rinita Mazumder ◽  
Sandy Hodgetts ◽  
Lonnie Zwaigenbaum
Keyword(s):  
Autism Spectrum Disorder ◽  
Genetic Testing ◽  
Online Survey ◽  
Demographic Data ◽  
Insurance Coverage ◽  
Structured Interview ◽  
Autism Spectrum ◽  
Spectrum Disorder ◽  
Children With Asd ◽  
Almost All

Abstract BACKGROUND Autism Spectrum Disorder (ASD) affects more than 1% of the population. In 2009, the Canadian College of Medical geneticists recommended genome-wide microarray analysis as a first-line investigation for children with a diagnosis of ASD. OBJECTIVES The purpose of this study is to explore experiences and preferences of parents with children with ASD regarding information about genetic testing. DESIGN/METHODS In this mixed method study, parents of children with a diagnosis of ASD (age 2 to 17 years) were recruited through advertisements on websites and Facebook pages of community partners. The first step was an on-line survey housed on a secure web-based platform. In addition to demographic data, the survey collected information about the experiences and informational preferences of the parents about genetic testing. A subset of participants, based on expressed interest, participated in an in-person semi-structured interview. All interviews were recorded, transcribed and coded for major themes and sub-themes. RESULTS A total of 31 participants responded to the survey and 5 interviews were completed. Their children had received their diagnosis between 2004 and 2017. The online survey revealed that 69% of participants were aware of genetic testing and 38% had genetic testing completed. Overall, 94% wanted to have more information about genetic testing; notably, only 25% had heard about microarray. Receiving information about genetic testing was preferred in a follow up appointment by 56% of participants, but 28% preferred to receive information on the date of ASD diagnosis. Most participants (81%) identified their community paediatrician as the preferred physician to discuss genetic testing with them. Almost all interview participants were concerned that the information from genetic testing could be detrimental to their child, noting, for example, potential difficulties obtaining insurance coverage. Some shared their concerns regarding their paediatrician’s knowledge about genetic testing and ASD; in fact, two families decided to change to a new paediatrician to fulfill their needs of information about ASD and genetic testing. CONCLUSION This study showed that parents of children with ASD are globally interested to learn more about genetic testing, with their paediatrician being their preferred resource. For that reason, it appears important that paediatricians be aware of the recommended investigations for children with ASD and have a good understanding of the implications of genetic testing.

Genetic evaluation of children with autism spectrum disorders in developing and low-resource areas

Autism ◽  
2021 ◽  
pp. 136236132110555
Author(s):  
Amira T Masri ◽  
Arwa Nasir ◽  
Fatima Irshaid ◽  
Farah Alomari ◽  
Aya Irshaid ◽  
...  
Keyword(s):  
Autism Spectrum Disorder ◽  
Genetic Testing ◽  
Clinical Guidelines ◽  
Genetic Factors ◽  
Neurodevelopmental Disorder ◽  
Children With Autism ◽  
Autism Spectrum ◽  
Spectrum Disorder ◽  
Convenience Sample ◽  
Low Resource

Autism spectrum disorder is a neurodevelopmental disorder in which genetic factors play key roles. Limited research has been conducted on genetic testing of children with autism spectrum disorder in low middle-income countries. This prospective cross-sectional study was conducted at the pediatric neurology clinics of three university hospitals in Jordan. Data were obtained from a convenience sample of parents of children with autism spectrum disorder who received care at these hospitals. Research personnel interviewed the parents and completed a questionnaire. A total of 274 parents were interviewed. A minority of children received chromosomal microarray (14.6%) or fragile X syndrome (4.4%) testing, as recommended by clinical guidelines. Karyotyping was performed in 103 (37.6%) patients, and whole-exome sequencing was performed in 9 (3.3%). The most common reason for not performing the recommended diagnostic investigations was that they were not ordered by the physician (185; 67.5%). The majority of children underwent non-genetic evaluations, including brain magnetic resonance imaging (222; 81.0%), electroencephalogram (221; 80.7%), and brain computed tomography scans (136; 49.6%). Only a minority of children with autism spectrum disorder in Jordan receive genetic workup, which may reflect a gap in physicians’ knowledge of clinical guidelines, as well as the availability and affordability of these tests. Lay abstract Autism is the most common neurodevelopmental disorder in children worldwide. Genetic factors play an important role in the risk of developing autism. Determining the genetic cause of autism is key to understanding the biological processes that lead to the clinical manifestations of autism, and can inform the management and even prevention of this condition. Establishing genetic causes of autism requires collection of genetic data on a global scale. Limited research on genetic testing for individuals with autism is available from developing countries in low-resource regions. In this study, we explored the types of investigations ordered for Jordanian children with autism by their physicians. A representative sample of parents of children with autism in Jordan was questioned about the studies that their children received. We found that the recommended genetic testing was only performed in a small number of children with autism. In contrast, most children in the sample received non-genetic testing, which is not routinely recommended. We also explored the sociocultural factors that may influence the decision to perform genetic testing in this population. We discuss our findings in light of the data available from other developing and developed countries.

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