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

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.

Needs assessment in genetic testing education: A survey of parents of children with autism spectrum disorder in the united states

2019 ◽  
Vol 12 (8) ◽  
pp. 1162-1170 ◽  
Author(s):  
Shixi Zhao ◽  
Wei‐Ju Chen ◽  
Shweta U. Dhar ◽  
Tanya N. Eble ◽  
Oi‐Man Kwok ◽  
...  
Keyword(s):  
United States ◽  
Autism Spectrum Disorder ◽  
Genetic Testing ◽  
Needs Assessment ◽  
Children With Autism ◽  
The United States ◽  
Autism Spectrum ◽  
Spectrum Disorder

Genetic Testing Experiences Among Parents of Children with Autism Spectrum Disorder in the United States

2019 ◽  
Vol 49 (12) ◽  
pp. 4821-4833 ◽  
Author(s):  
Shixi Zhao ◽  
Wei-Ju Chen ◽  
Shweta U. Dhar ◽  
Tanya N. Eble ◽  
Oi-Man Kwok ◽  
...  
Keyword(s):  
United States ◽  
Autism Spectrum Disorder ◽  
Genetic Testing ◽  
Children With Autism ◽  
The United States ◽  
Autism Spectrum ◽  
Spectrum Disorder

scholarly journals Genetic testing including targeted gene panel in a diverse clinical population of children with autism spectrum disorder: Findings and implications

2017 ◽  
Vol 6 (2) ◽  
pp. 171-185 ◽  
Author(s):  
Louisa Kalsner ◽  
Jennifer Twachtman-Bassett ◽  
Kristin Tokarski ◽  
Christine Stanley ◽  
Thyde Dumont-Mathieu ◽  
...  
Keyword(s):  
Autism Spectrum Disorder ◽  
Genetic Testing ◽  
Children With Autism ◽  
Autism Spectrum ◽  
Gene Panel ◽  
Spectrum Disorder ◽  
Clinical Population

Instruction Using Augmentative and Alternative Communication Supports: Description of Current Practices by Speech-Language Pathologists Who Work With Children With Autism Spectrum Disorder

2020 ◽  
Vol 29 (2) ◽  
pp. 586-596 ◽  
Author(s):  
Kaitlyn A. Clarke ◽  
Diane L. Williams
Keyword(s):  
Autism Spectrum Disorder ◽  
Augmentative And Alternative Communication ◽  
Communication Systems ◽  
Diagnostic Category ◽  
Children With Autism ◽  
Autism Spectrum ◽  
Spectrum Disorder ◽  
Alternative Communication ◽  
Speech Language Pathologists ◽  
Processing Differences

Purpose The aim of this research study was to examine common practices of speech-language pathologists (SLPs) who work with children with autism spectrum disorder (ASD) with respect to whether or not SLPs consider processing differences in ASD or the effects of input during their instruction. Method Following a qualitative research method, how SLPs instruct and present augmentative and alternative communication systems to individuals with ASD, their rationale for method selection, and their perception of the efficacy of selected interventions were probed. Semistructured interviews were conducted as part of an in-depth case report with content analysis. Results Based on completed interviews, 4 primary themes were identified: (a) instructional method , (b) input provided , (c) decision-making process , and (d) perceived efficacy of treatment . Additionally, one secondary theme, training and education received , was identified . Conclusions Clinicians reported making decisions based on the needs of the child; however, they also reported making decisions based on the diagnostic category that characterized the child (i.e., ASD). The use of modeling when teaching augmentative and alternative communication to individuals with ASD emerged as a theme, but variations in the method of modeling were noted. SLPs did not report regularly considering processing differences in ASD, nor did they consider the effects of input during instruction.

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