scholarly journals Prevalence of Returnable Genetic Results Based on Recognizable Phenotypes among Children with Autism Spectrum Disorder

2021 ◽  
Author(s):  
Somer Bishop ◽  
Audrey Thurm ◽  
Elise Robinson ◽  
Stephan Sanders
Keyword(s):  
Autism Spectrum Disorder ◽  
Genetic Testing ◽  
Autism Spectrum ◽  
Return Rate ◽  
Spectrum Disorder ◽  
Clinical Settings ◽  
Clinical Genetic ◽  
Genetic Evaluations ◽  
Large Research ◽  
Genetic Result

The importance of extensive genetic testing of autism spectrum disorder (ASD) cases has been demonstrated repeatedly in research settings but such testing in clinical settings remains sporadic. Determining which individuals should be prioritized for expensive tests remains a challenge. Several guidelines have been released relating to clinical genetic evaluations and testing in the context of ASD and these guidelines may be informed by the results of genetic testing in large research cohorts. The current study summarizes findings from over 2,000 individuals with ASD who received genetic testing, including microarray and exome testing, through the Simons Simplex Consortium. A returnable genetic result is identified in 10% of cases, however, this yield increases based on four readily accessible phenotypes: female sex and the presence of intellectual disability, seizures or delayed walking. Combinations of these factors increase return rate further, with some combinations yielding a return rate over 50%. In conclusion, these four phenotypes provide a simple approach to prioritize genetic testing in a clinical setting and inform future clinical guidelines. Providing a systematic approach to decisions about who to test removes barriers for, and therefore decrease disparities in, reimbursable genetic testing for individuals diagnosed with ASD.

scholarly journals Parents’ Attitudes toward Clinical Genetic Testing for Autism Spectrum Disorder—Data from a Norwegian Sample

2017 ◽  
Vol 18 (5) ◽  
pp. 1078 ◽  
Author(s):  
Jarle Johannessen ◽  
Terje Nærland ◽  
Sigrun Hope ◽  
Tonje Torske ◽  
Anne Høyland ◽  
...  
Keyword(s):  
Autism Spectrum Disorder ◽  
Genetic Testing ◽  
Autism Spectrum ◽  
Spectrum Disorder ◽  
Clinical Genetic ◽  
Clinical Genetic Testing

scholarly journals Clinical Genetic Testing in Autism Spectrum Disorder in a Large Community-Based Population Sample

2020 ◽  
Vol 77 (9) ◽  
pp. 979
Author(s):  
Daniel Moreno-De-Luca ◽  
Brian C. Kavanaugh ◽  
Carrie R. Best ◽  
Stephen J. Sheinkopf ◽  
Chanika Phornphutkul ◽  
...  
Keyword(s):  
Autism Spectrum Disorder ◽  
Genetic Testing ◽  
Population Sample ◽  
Autism Spectrum ◽  
Spectrum Disorder ◽  
Clinical Genetic ◽  
Community Based ◽  
Clinical Genetic Testing ◽  
Large Community

Access, utilization, and awareness for clinical genetic testing in autism spectrum disorder in Sweden: A survey study

Autism ◽  
2021 ◽  
pp. 136236132110661
Author(s):  
Anna Hellquist ◽  
Kristiina Tammimies
Keyword(s):  
Autism Spectrum Disorder ◽  
Intellectual Disability ◽  
Genetic Testing ◽  
Language Disorder ◽  
Autism Spectrum ◽  
Spectrum Disorder ◽  
Autistic Children ◽  
Clinical Genetic ◽  
Clinical Genetic Testing ◽  
Autism Spectrum Disorder Diagnosis

Clinical genetic testing is recommended for individuals diagnosed with autism spectrum disorder. There are only a few reports of how these recommendations are followed and especially missing for European countries. We aimed to analyze the rate of access, utilization, and awareness of clinical genetic testing among autistic individuals in Sweden through online surveys targeting parents with at least one autistic child and autistic adolescents (from 15 years) and adults. In total, 868 parents of autistic children and 213 autistic adolescents or adults completed the survey. Only 9.1% ( n = 79) of parents and 2.8% ( n = 6) of autistic adolescents/adults reported having received a referral for clinical genetic testing after autism spectrum disorder diagnosis. The autistic children offered a referral were younger at diagnosis ( p < 0.001) and more likely to have an additional neurodevelopmental diagnosis ( p < 0.01), including intellectual disability ( p < 0.001) or a language disorder ( p < 0.001). Genetic counseling was provided to less than half of the families that were referred for clinical genetic testing. Finally, we report that both respondent groups preferred to be informed by written text and an expert in genetics about clinical genetic testing. This study highlights a lack of awareness and access to clinical genetic testing after autism spectrum disorder diagnosis in Sweden and demonstrates the need for additional studies on how clinical guidelines for genetic testing are followed in different countries. Lay abstract Several medical professional societies recommend clinical genetic testing for autistic individuals as many genetic conditions are linked to autism. However, it is unclear to what extent autistic individuals and parents of autistic children are offered clinical genetic testing. We conducted a community-based survey to estimate the access, utilization, and awareness for clinical genetic testing in Sweden. In total, 868 parents of autistic children and 213 autistic adolescents or adults participated as respondents. The referral rate for clinical genetic testing after autism spectrum disorder diagnosis was low, with only 9.1% for the autistic children as reported by their parents and 2.8% for autistic adolescents/adults. The autistic children who got referrals were more likely to have intellectual disability and language disorder. We also report that awareness of the clinical genetic testing possibility was low in both respondent groups. We also highlight preferred communication means and needs for information before clinical genetic testing. Our results show that utilization and access are low in Sweden, and more studies should be conducted to report these rates in different countries to analyze the effects of clinical genetic testing on healthcare for autistic individuals. Our results highlight the most important information for the families and how the information should be communicated prior to clinical genetic testing.

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 Zika Virus Infection Associated with Autism Spectrum Disorder: A Case Report

2021 ◽  
pp. 1-4
Author(s):  
Lucélia Santi ◽  
Rudimar S. Riesgo ◽  
André Quincozes-Santos ◽  
Lavínia Schuler-Faccini ◽  
Emanuela F. Tureta ◽  
...  
Keyword(s):  
Autism Spectrum Disorder ◽  
Virus Infection ◽  
Zika Virus ◽  
Snp Array ◽  
Autism Spectrum ◽  
Spectrum Disorder ◽  
Pathogenic Variants ◽  
Zika Virus Infection ◽  
Second Year ◽  
Genetic Evaluations

<b><i>Introduction:</i></b> The aim of this case was to investigate the association of the Zika virus infection in utero with the autism spectrum disorder (ASD) as clinical outcome that presented no congenital anomalies. <b><i>Methods:</i></b> ASD was diagnosed in the second year of life by different child neurologists and confirmed by DSM-5 and ASQ. After that, an extensive clinical, epidemiological, and genetic evaluations were performed, with main known ASD causes ruled out. <b><i>Results:</i></b> An extensive laboratorial search was done, with normal findings. SNP array identified no pathogenic variants. Normal neuroimaging and EEG findings were also obtained. ZIKV (Zika virus) IgG was positive, while IgM was negative. Other congenital infections were negative. The exome sequencing did not reveal any pathogenic variant in genes related to ASD. <b><i>Conclusion:</i></b> Accordingly, this report firstly associates ZIKV exposure to ASD.

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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