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 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.

scholarly journals Genetic testing and genetic counseling among medicaid-enrolled children with autism spectrum disorder in 2001 and 2007

2013 ◽  
Vol 133 (1) ◽  
pp. 111-116 ◽  
Author(s):  
Lindsay Shea ◽  
Craig J. Newschaffer ◽  
Ming Xie ◽  
Scott M. Myers ◽  
David S. Mandell
Keyword(s):  
Autism Spectrum Disorder ◽  
Genetic Counseling ◽  
Genetic Testing ◽  
Children With Autism ◽  
Autism Spectrum ◽  
Spectrum Disorder

scholarly journals Child and Adolescent Psychiatrists’ Perceptions of Utility and Self-rated Knowledge of Genetic Testing Predict Usage for Autism Spectrum Disorder

2021 ◽  
Author(s):  
Takahiro Soda ◽  
Stacey Pereira ◽  
Brent J. Small ◽  
Laura N. Torgerson ◽  
Katrina A. Muñoz ◽  
...  
Keyword(s):  
Autism Spectrum Disorder ◽  
Genetic Testing ◽  
Child And Adolescent ◽  
Autism Spectrum ◽  
Spectrum Disorder

scholarly journals Pathways from autism spectrum disorder diagnosis to genetic testing

2017 ◽  
Vol 20 (7) ◽  
pp. 737-744 ◽  
Author(s):  
Krysta S Barton ◽  
Holly K Tabor ◽  
Helene Starks ◽  
Nanibaa’ A Garrison ◽  
Mercy Laurino ◽  
...  
Keyword(s):  
Autism Spectrum Disorder ◽  
Genetic Testing ◽  
Autism Spectrum ◽  
Spectrum Disorder ◽  
Autism Spectrum Disorder Diagnosis

scholarly journals Development of an Interactive Patient Education Tool for Genetic Testing in Autism Spectrum Disorder

2019 ◽  
Vol 43 (2) ◽  
Author(s):  
Maurita Hung ◽  
Michael Corrin ◽  
Shelley Wall ◽  
Ny Hoang
Keyword(s):  
Autism Spectrum Disorder ◽  
Genetic Testing ◽  
Next Generation Sequencing ◽  
Patient Education ◽  
Neurodevelopmental Disorder ◽  
Autism Spectrum ◽  
Spectrum Disorder ◽  
Next Generation ◽  
Clinical Practices ◽  
Generation Sequencing

Autism spectrum disorder (ASD) is a neurodevelopmental disorder with a prevalence of 1 in 68 children. The cause of the disorder is unknown, but research suggests that it involves a combination of genetic and environmental factors. Due to recent advances in sequencing technology, next generation sequencing is being incorporated into clinical practices, enabling researchers to obtain genetic data from ASD patients and elucidate the genetic variants that contribute to the disorder. Ultimately, this may lead to earlier diagnoses and interventions for future generations. The integration of next generation sequencing into clinical practices also benefits patients, because it can be used to identify other fatal genetic disorders associated with ASD and to advise parents on recurrence risk. Despite the benefits of genetic testing in the ASD field, there remain two communication gaps between families of patients affected by ASD and genetic counselors. First, there are few patient education resources on why patients with ASD should get genetic testing, resulting in a lack of awareness. The second communication gap is the challenge of explaining complex genomic results to families of patients who choose to undergo genetic testing. This master’s research project aims to bridge both communication gaps through the implementation of an interactive web-based resource. With the use of visual analogies and storytelling techniques, the tool will aid in knowledge translation and improve society’s understanding of genetic testing in the field of ASD.

scholarly journals Autism Spectrum Disorder

2019 ◽  
Vol 8 (2) ◽  
Author(s):  
Brittany A Morris ◽  
Erica Schacht
Keyword(s):  
Autism Spectrum Disorder ◽  
Genetic Testing ◽  
Genetic Factors ◽  
Journal Article ◽  
Gene List ◽  
Autism Spectrum ◽  
Spectrum Disorder ◽  
Socioeconomic Groups ◽  
Different Types ◽  
History Of

About 1 in 59 children has been identified with Autism Spectrum Disorder (ASD). ASD is reported to be 4 times more common among boys than girls. ASD affects all racial, ethical, and socioeconomic groups. The purpose of this journal article is to explain the history of Autism, different types of Autism, the characteristics, sign/symptoms, and medical conditions associated, the diagnosing process, genetic factors, environmental factors and more. The debate about the vaccinations and how some parents still believe that vaccines are making children Autistic are discussed throughout. Genetic testing is emphasized because the topic is of special interest. In the article are included charts from the organization showing gene list and charts that shows evidence of how individuals are placed on the spectrum, including how severe or mild. The goal of the article is to find out if this disorder originate from genetics or from the environment.

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