scholarly journals The Temple Grandin Genome: Comprehensive Analysis in a Scientist with High-Functioning Autism

2020 ◽  
Vol 11 (1) ◽  
pp. 21
Author(s):  
Rena J. Vanzo ◽  
Aparna Prasad ◽  
Lauren Staunch ◽  
Charles H. Hensel ◽  
Moises A. Serrano ◽  
...  
Keyword(s):  
Genetic Testing ◽  
Clinical Features ◽  
High Functioning Autism ◽  
Genetic Diagnosis ◽  
Autism Spectrum ◽  
Clinical Diagnostics ◽  
Chromosomal Microarray ◽  
Chromosomal Microarray Analysis ◽  
Clinical Genetic ◽  
High Functioning

Autism spectrum disorder (ASD) is a heterogeneous condition with a complex genetic etiology. The objective of this study is to identify the complex genetic factors that underlie the ASD phenotype and other clinical features of Professor Temple Grandin, an animal scientist and woman with high-functioning ASD. Identifying the underlying genetic cause for ASD can impact medical management, personalize services and treatment, and uncover other medical risks that are associated with the genetic diagnosis. Prof. Grandin underwent chromosomal microarray analysis, whole exome sequencing, and whole genome sequencing, as well as a comprehensive clinical and family history intake. The raw data were analyzed in order to identify possible genotype-phenotype correlations. Genetic testing identified variants in three genes (SHANK2, ALX1, and RELN) that are candidate risk factors for ASD. We identified variants in MEFV and WNT10A, reported to be disease-associated in previous studies, which are likely to contribute to some of her additional clinical features. Moreover, candidate variants in genes encoding metabolic enzymes and transporters were identified, some of which suggest potential therapies. This case report describes the genomic findings in Prof. Grandin and it serves as an example to discuss state-of-the-art clinical diagnostics for individuals with ASD, as well as the medical, logistical, and economic hurdles that are involved in clinical genetic testing for an individual on the autism spectrum.

The Clinical Dilemma of Autism Spectrum Disorder Diagnosis in a Child with 9p Deletion

2020 ◽  
Author(s):  
Brendan E. Karba ◽  
Jean-Francois Lemay ◽  
Scott A. McLeod
Keyword(s):  
Autism Spectrum Disorder ◽  
Genetic Diagnosis ◽  
Receptive Language ◽  
Autism Spectrum ◽  
Spectrum Disorder ◽  
Chromosomal Microarray ◽  
Chromosomal Microarray Analysis ◽  
Genetic Syndromes ◽  
Nasal Bridge ◽  
Clinical Dilemma

AbstractWe report on a 3-year-old girl with the presence of trigonocephaly, broad nasal bridge, flattened occiput, and midface hypoplasia. Formal assessment of her development profile demonstrated expressive and receptive language delays, fine and gross motor delays, and no imaginative or symbolic representative play. Investigation of the etiology of her developmental delays revealed a genetic diagnosis of a 9p24 deletion by chromosomal microarray analysis. The possibility of an additional co-occurring disorder of autism spectrum disorder (ASD) was also raised by a referring clinician. This case highlights the clinical dilemma of diagnosing ASD in those with existing genetic syndromes.

scholarly journals Low Rates of Genetic Testing in Children With Developmental Delays, Intellectual Disability, and Autism Spectrum Disorders

2015 ◽  
Vol 2 ◽  
pp. 2333794X1562371 ◽  
Author(s):  
John Peabody ◽  
Lisa DeMaria ◽  
Diana Tamandong-LaChica ◽  
Jhiedon Florentino ◽  
Maria Czarina Acelajado ◽  
...  
Keyword(s):  
Intellectual Disability ◽  
Genetic Testing ◽  
Autism Spectrum ◽  
Primary Diagnosis ◽  
Simulated Patients ◽  
Chromosomal Microarray ◽  
Specific Gene ◽  
Chromosomal Microarray Analysis ◽  
Spectrum Disorders ◽  
Effective Use

To explore the routine and effective use of genetic testing for patients with intellectual disability and developmental delay (ID/DD), we conducted a prospective, randomized observational study of 231 general pediatricians (40%) and specialists (60%), using simulated patients with 9 rare pediatric genetic illnesses. Participants cared for 3 randomly assigned simulated patients, and care responses were scored against explicit evidence-based criteria. Scores were calculated as a percentage of criteria completed. Care varied widely, with a median overall score of 44.7% and interquartile range of 36.6% to 53.7%. Diagnostic accuracy was low: 27.4% of physicians identified the correct primary diagnosis. Physicians ordered chromosomal microarray analysis in 55.7% of cases. Specific gene sequence testing was used in 1.4% to 30.3% of cases. This study demonstrates that genetic testing is underutilized, even for widely available tests. Further efforts to educate physicians on the clinical utility of genetic testing may improve diagnosis and care in these patients.

scholarly journals What Do Parents Think about Chromosomal Microarray Testing? A Qualitative Report from Parents of Children with Autism Spectrum Disorders

2016 ◽  
Vol 2016 ◽  
pp. 1-9 ◽  
Author(s):  
Lei Xu ◽  
Linda Crane Mitchell ◽  
Alice R. Richman ◽  
Kaitlyn Clawson
Keyword(s):  
Autism Spectrum Disorders ◽  
Genetic Testing ◽  
Copy Number Variants ◽  
Cultural Influences ◽  
Autism Spectrum ◽  
Chromosomal Microarray ◽  
Chromosomal Microarray Analysis ◽  
Eastern Region ◽  
Children With Asd ◽  
Spectrum Disorders

Background. Chromosomal Microarray Analysis (CMA) is increasingly utilized to detect copy number variants among children and families affected with autism spectrum disorders (ASD). However, CMA is controversial due to possible ambiguous test findings, uncertain clinical implications, and other social and legal issues related to the test.Methods. Participants were parents of children with ASD residing in the North Eastern region of North Carolina, USA. We conducted individual, face-to-face interviews with 45 parents and inquired about their perceptions of CMA.Results. Three major themes dominated parents’ perceptions of CMA. None of the parents had ever heard of the test before and the majority of the parents postulated positive attitudes toward the test. Parents’ motivations in undergoing the test were attributed to finding a potential cause of ASD, to being better prepared for having another affected child, and to helping with future reproductive decisions. Perceived barriers included the cost of testing, risk/pain of CMA testing, and fear of test results.Conclusion. This study contributes to the understanding of psychosocial aspects and cultural influences towards adoption of genetic testing for ASD in clinical practice. Genetic education can aid informed decision-making related to CMA genetic testing among parents of children with ASD.

Social Communication and Structural Language of Girls With High-Functioning Autism Spectrum Disorder

2020 ◽  
Vol 51 (4) ◽  
pp. 1139-1155
Author(s):  
Jenny M. Burton ◽  
Nancy A. Creaghead ◽  
Noah Silbert ◽  
Allison Breit-Smith ◽  
Amie W. Duncan ◽  
...  
Keyword(s):  
Autism Spectrum Disorder ◽  
Adaptive Behavior ◽  
Social Communication ◽  
High Functioning Autism ◽  
Autism Spectrum ◽  
Vineland Adaptive Behavior Scales ◽  
High Functioning ◽  
Expressive Communication ◽  
Vineland Adaptive Behavior ◽  
Structural Language

Purpose The purpose of this study was to characterize social communication and structural language of school-age girls with high-functioning autism spectrum disorder (HF-ASD) compared to a matched group of girls who are typically developing (TD). Method Participants were 37 girls between 7;5 and 15;2 (years;months)—18 HF-ASD and 19 TD. Children completed the Test of Pragmatic Language–Second Edition (TOPL-2) and Clinical Evaluation of Language Fundamentals–Fifth Edition. Parents completed the Children's Communication Checklist–2 United States Edition (CCC-2) and Receptive and Expressive Communication subdomains of the Vineland Adaptive Behavior Scales–Second Edition. Results In the area of social communication, girls with HF-ASD earned significantly lower scores and were more often classified as having an impairment on the TOPL-2 and the CCC-2. However, 28% and 33% earned average scores on the TOPL-2 and the CCC-2, respectively. In the area of structural language, no significant differences were found between groups on Clinical Evaluation of Language Fundamentals–Fifth Edition indexes. In contrast, girls with HF-ASD earned significantly lower scores and were more often classified as having an impairment on the Vineland Adaptive Behavior Scales–Second Edition. Sixty-one percent and 83% scored below average on the Receptive and Expressive Communication subdomains, respectively. Conclusions It has been argued that girls with HF-ASD, when compared to boys with HF-ASD, may have advantages for social communication and structural language that mask their impairments. However, when compared to girls who are TD, girls with HF-ASD demonstrated impaired social communication and structural language. Clinicians should include and carefully examine multiple sources of information when assessing girls with HF-ASD.

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