scholarly journals Mini-Review: Genetic Literacy and Engagement With Genetic Testing for Autism Spectrum Disorder

2021 ◽  
Vol 12 ◽  
Author(s):  
India D. Little ◽  
Chris Gunter
Keyword(s):  
Autism Spectrum Disorder ◽  
Genetic Testing ◽  
Genetic Information ◽  
Genetic Disorders ◽  
Autism Spectrum ◽  
Spectrum Disorder ◽  
Restricted Interests ◽  
Genetic Literacy ◽  
Apply Genetic ◽  
Gene Panels

As genomic and personalized medicine is integrated into healthcare, the need for patients to understand and make decisions about their own genetic makeup increases. Genetic literacy, or one’s knowledge of genetic principles and their applications, measures an individual’s ability to apply genetic information to their own treatment. Increased genetic literacy can improve comprehension of genetic tests and therefore increase participation in testing to detect and treat genetic disorders. It can also help providers understand and explain genetic information to their patients. However, current research indicates that the population’s genetic literacy is generally low. Because many medical students, providers, and patients cannot adequately apply genetic information to their health, new and beneficial genetic technologies can be underused. More specifically, though genetic testing is recommended at the time of diagnosis for those affected by autism spectrum disorder (ASD), as few as 22% of families undergo genetic testing after diagnosis. While ASD, a neurodevelopmental condition characterized by impaired social communication and restricted interests, has both genetic and environmental risk, genetic testing can give clinicians useful information and help families avoid potentially painful and costly tests, even when many families do not receive a “positive” genetic result through microarrays or gene panels. Improving genetic literacy in populations affected by ASD can also improve attitudes toward genetic testing, thereby ensuring access to genetic health risk information. In this mini review, we discuss the current literature describing genetic literacy and genetic testing rates for ASD.

Specialized Diet Therapies: Exploration for Improving Behavior in Autism Spectrum Disorder (ASD)

2020 ◽  
Vol 27 (40) ◽  
pp. 6771-6786
Author(s):  
Geir Bjørklund ◽  
Nagwa Abdel Meguid ◽  
Maryam Dadar ◽  
Lyudmila Pivina ◽  
Joanna Kałużna-Czaplińska ◽  
...  
Keyword(s):  
Autism Spectrum Disorder ◽  
Neurodevelopmental Disorder ◽  
Caloric Intake ◽  
Autism Spectrum ◽  
Spectrum Disorder ◽  
Nutritional Deficiencies ◽  
Childhood And Adolescence ◽  
Restricted Interests ◽  
Balanced Diet ◽  
The Individual

As a major neurodevelopmental disorder, Autism Spectrum Disorder (ASD) encompasses deficits in communication and repetitive and restricted interests or behaviors in childhood and adolescence. Its etiology may come from either a genetic, epigenetic, neurological, hormonal, or an environmental cause, generating pathways that often altogether play a synergistic role in the development of ASD pathogenesis. Furthermore, the metabolic origin of ASD should be important as well. A balanced diet consisting of the essential and special nutrients, alongside the recommended caloric intake, is highly recommended to promote growth and development that withstand the physiologic and behavioral challenges experienced by ASD children. In this review paper, we evaluated many studies that show a relationship between ASD and diet to develop a better understanding of the specific effects of the overall diet and the individual nutrients required for this population. This review will add a comprehensive update of knowledge in the field and shed light on the possible nutritional deficiencies, metabolic impairments (particularly in the gut microbiome), and malnutrition in individuals with ASD, which should be recognized in order to maintain the improved socio-behavioral habit and physical health.

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

A Meta-Analysis of Single-Case Research on Embedding Interests of Individuals With Autism Spectrum Disorder

2019 ◽  
Vol 41 (5) ◽  
pp. 296-308
Author(s):  
Jennifer Ninci ◽  
Leslie C. Neely ◽  
Mack D. Burke ◽  
Mandy Rispoli ◽  
Kimberly J. Vannest ◽  
...  
Keyword(s):  
Autism Spectrum Disorder ◽  
Visual Analysis ◽  
Single Case ◽  
Meta Analysis ◽  
Autism Spectrum ◽  
Spectrum Disorder ◽  
Restricted Interests ◽  
Moderating Variables ◽  
Ritualistic Behaviors ◽  
Motivation To Participate

Restricted interests of individuals with autism spectrum disorder (ASD) can act as a barrier to learning important life skills. Embedding the interests of individuals into their learning environment can act to establish motivation to participate. A meta-analysis of 20 single-case studies on embedding interests of individuals with ASD was conducted to determine overall effects and potential moderating variables. Data were aggregated across domains of variables including dependent variables, participant characteristics, and learning contexts. The correlation between self-stimulatory or ritualistic behaviors and primary outcomes was evaluated. Publication bias and consistency of the Tau/Tau- U nonoverlap effect size with visual analysis were tested via moderator analyses. The literature suggests that embedding interest for learners with ASD can either be beneficial or distractible. Effects ranged from negative to strong, with several moderators identified. Practitioners should take caution when using this intervention with students who display self-stimulatory or ritualistic behaviors when their interests are present.

scholarly journals Prevalence of autism spectrum disorder phenomenology in genetic disorders: a systematic review and meta-analysis

2015 ◽  
Vol 2 (10) ◽  
pp. 909-916 ◽  
Author(s):  
Caroline Richards ◽  
Christopher Jones ◽  
Laura Groves ◽  
Jo Moss ◽  
Chris Oliver
Keyword(s):  
Systematic Review ◽  
Autism Spectrum Disorder ◽  
Meta Analysis ◽  
Genetic Disorders ◽  
Autism Spectrum ◽  
Spectrum Disorder

scholarly journals Spatial and Temporal Gene Function Studies in Rodents: Towards Gene-Based Therapies for Autism Spectrum Disorder

Genes ◽  
2021 ◽  
Vol 13 (1) ◽  
pp. 28
Author(s):  
Iris W. Riemersma ◽  
Robbert Havekes ◽  
Martien J. H. Kas
Keyword(s):  
Autism Spectrum Disorder ◽  
Gene Function ◽  
Current Knowledge ◽  
Developmental Trajectories ◽  
Autism Spectrum ◽  
Synaptic Function ◽  
Repetitive Behaviors ◽  
Spectrum Disorder ◽  
Restricted Interests ◽  
Highly Correlated

Autism spectrum disorder (ASD) is a complex neurodevelopmental condition that is characterized by differences in social interaction, repetitive behaviors, restricted interests, and sensory differences beginning early in life. Especially sensory symptoms are highly correlated with the severity of other behavioral differences. ASD is a highly heterogeneous condition on multiple levels, including clinical presentation, genetics, and developmental trajectories. Over a thousand genes have been implicated in ASD. This has facilitated the generation of more than two hundred genetic mouse models that are contributing to understanding the biological underpinnings of ASD. Since the first symptoms already arise during early life, it is especially important to identify both spatial and temporal gene functions in relation to the ASD phenotype. To further decompose the heterogeneity, ASD-related genes can be divided into different subgroups based on common functions, such as genes involved in synaptic function. Furthermore, finding common biological processes that are modulated by this subgroup of genes is essential for possible patient stratification and the development of personalized early treatments. Here, we review the current knowledge on behavioral rodent models of synaptic dysfunction by focusing on behavioral phenotypes, spatial and temporal gene function, and molecular targets that could lead to new targeted gene-based therapy.

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 Social (Pragmatic) Communication Disorder: Another name for the Broad Autism Phenotype?

Autism ◽  
2019 ◽  
Vol 23 (8) ◽  
pp. 1982-1992 ◽  
Author(s):  
Judy Flax ◽  
Christine Gwin ◽  
Sherri Wilson ◽  
Yuli Fradkin ◽  
Steve Buyske ◽  
...  
Keyword(s):  
Autism Spectrum Disorder ◽  
Social Communication ◽  
Repetitive Behavior ◽  
Family Members ◽  
Autism Spectrum ◽  
Spectrum Disorder ◽  
Communication Disorder ◽  
Restricted Interests ◽  
Communication Impairment ◽  
Pragmatic Communication

The Diagnostic and Statistical Manual of Mental Disorders’ (5th ed.) Social (Pragmatic) Communication Disorder is meant to capture the social elements of communication dysfunction in children who do not meet autism spectrum disorder criteria. It is unclear whether Social (Pragmatic) Communication Disorder captures these elements without overlapping with Autism Spectrum Disorder or the Diagnostic and Statistical Manual of Mental Disorders’ (5th ed.) Language Disorder. Standardized behavioral assessments administered during a family genetics study were used to evaluate the social communication impairment and the restricted interests and repetitive behaviors in persons with autism spectrum disorder, language impairment, or neither. Social communication impairment and restricted interests and repetitive behavior were significantly correlated in all family members regardless of affection status. Rates of social communication impairment and restricted interests and repetitive behavior were highest in individuals with autism spectrum disorder. One-third of family members with language impairment presented with at least mild/moderate levels of social communication impairment (36.6%) and restricted interests and repetitive behavior (43.3%). A subset of unaffected members also presented with mild/moderate levels of social communication impairment (parents = 10.1%, siblings 11.6%) and restricted interests and repetitive behavior (parents = 14.0%, siblings = 22.1%). The majority of child family members with mild/moderate levels of social communication impairment had similar restricted interest and repetitive behavior levels reflecting criteria representing the Broad Autism Phenotype. These data suggest that social pragmatic communication disorder does not capture the profiles of children who have both social communication impairment and restricted interests and repetitive behavior but are in need of clinical services.

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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