| Title |
Diagnostic Yield of Chromosomal Microarray Analysis in an Autism Primary Care Practice: Which Guidelines to Implement?
|
|---|---|
| Published in |
Journal of Autism and Developmental Disorders, November 2011
|
| DOI | 10.1007/s10803-011-1398-3 |
| Pubmed ID | |
| Authors |
Susan G. McGrew, Brittany R. Peters, Julie A. Crittendon, Jeremy Veenstra-VanderWeele |
| Abstract |
Genetic testing is recommended for patients with ASD; however specific recommendations vary by specialty. American Academy of Pediatrics and American Academy of Neurology guidelines recommend G-banded karyotype and Fragile X DNA. The American College of Medical Genetics recommends Chromosomal Microarray Analysis (CMA). We determined the yield of CMA (N = 85), karyotype (N = 119), and fragile X (N = 174) testing in a primary pediatrics autism practice. We found twenty (24%) patients with abnormal CMA results (eight were clinically significant), three abnormal karyotypes and one Fragile X syndrome. There was no relationship between CMA result and cognitive level, seizures, dysmorphology, congenital malformations or behavior. We conclude that CMA should be the clinical standard in all specialties for first tier genetic testing in ASD. |
X Demographics
The data shown below were collected from the profile of 1 X user who shared this research output. Click here to find out more about how the information was compiled.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Unknown | 1 | 100% |
Demographic breakdown
| Type | Count | As % |
|---|---|---|
| Members of the public | 1 | 100% |
Mendeley readers
The data shown below were compiled from readership statistics for 121 Mendeley readers of this research output. Click here to see the associated Mendeley record.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| United States | 2 | 2% |
| Brazil | 1 | <1% |
| Unknown | 118 | 98% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Researcher | 17 | 14% |
| Student > Doctoral Student | 13 | 11% |
| Student > Bachelor | 13 | 11% |
| Student > Master | 12 | 10% |
| Student > Ph. D. Student | 10 | 8% |
| Other | 24 | 20% |
| Unknown | 32 | 26% |
| Readers by discipline | Count | As % |
|---|---|---|
| Medicine and Dentistry | 33 | 27% |
| Psychology | 16 | 13% |
| Agricultural and Biological Sciences | 9 | 7% |
| Social Sciences | 8 | 7% |
| Nursing and Health Professions | 7 | 6% |
| Other | 13 | 11% |
| Unknown | 35 | 29% |
Attention Score in Context
This research output has an Altmetric Attention Score of 32. This is our high-level measure of the quality and quantity of online attention that it has received. This Attention Score, as well as the ranking and number of research outputs shown below, was calculated when the research output was last mentioned on 13 November 2019.
All research outputs
#1,139,662
of 23,867,274 outputs
Outputs from Journal of Autism and Developmental Disorders
#425
of 5,240 outputs
Outputs of similar age
#7,117
of 244,920 outputs
Outputs of similar age from Journal of Autism and Developmental Disorders
#3
of 45 outputs
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So far Altmetric has tracked 5,240 research outputs from this source. They typically receive a lot more attention than average, with a mean Attention Score of 13.2. This one has done particularly well, scoring higher than 92% of its peers.
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We're also able to compare this research output to 45 others from the same source and published within six weeks on either side of this one. This one has done particularly well, scoring higher than 93% of its contemporaries.