| Title |
An atypical autistic phenotype associated with a 2q13 microdeletion: a case report
|
|---|---|
| Published in |
Journal of Medical Case Reports, March 2018
|
| DOI | 10.1186/s13256-018-1620-4 |
| Pubmed ID | |
| Authors |
Jokthan Guivarch, Clarisse Chatel, Jeremie Mortreux, Chantal Missirian, Nicole Philip, François Poinso |
| Abstract |
Autism spectrum disorders are serious neurodevelopmental disorders that affect approximately 1% of the population. These disorders are substantially influenced by genetics. Several recent linkage analyses have examined copy number variations associated with autism risk. Microdeletion of the 2q13 region is considered a pathogenic copy number variation. This microdeletion is involved in developmental delays, congenital heart defects, dysmorphism, and various psychiatric disorders, including autism spectrum disorders. There are only 34 reported cases with this chromosomal deletion, and five cases of autism spectrum disorders have been identified among them. The autistic phenotype associated with this microdeletion has never been described. We describe the case of a 44-month-old Caucasian girl with the 2q13 microdeletion and autism spectrum disorders with global development delay but no associated organ anomalies. We examined the autistic phenotype using different workups and observed an atypical phenotype defined by relatively preserved relational competency and imitation abilities. The main contribution of this case report is the precise description of the autistic phenotype in the case of this deletion. We observed some atypical clinical features that could be markers of this genetic anomaly. We have discussed the pathophysiology of autism associated with this microdeletion and its incomplete penetrance and variable expressivity. |
X Demographics
The data shown below were collected from the profiles of 7 X users who shared this research output. Click here to find out more about how the information was compiled.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| United States | 2 | 29% |
| United Kingdom | 2 | 29% |
| Canada | 1 | 14% |
| Unknown | 2 | 29% |
Demographic breakdown
| Type | Count | As % |
|---|---|---|
| Members of the public | 4 | 57% |
| Scientists | 2 | 29% |
| Practitioners (doctors, other healthcare professionals) | 1 | 14% |
Mendeley readers
The data shown below were compiled from readership statistics for 51 Mendeley readers of this research output. Click here to see the associated Mendeley record.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Unknown | 51 | 100% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Student > Master | 9 | 18% |
| Unspecified | 6 | 12% |
| Student > Postgraduate | 6 | 12% |
| Researcher | 5 | 10% |
| Student > Ph. D. Student | 5 | 10% |
| Other | 9 | 18% |
| Unknown | 11 | 22% |
| Readers by discipline | Count | As % |
|---|---|---|
| Medicine and Dentistry | 9 | 18% |
| Psychology | 8 | 16% |
| Unspecified | 6 | 12% |
| Biochemistry, Genetics and Molecular Biology | 5 | 10% |
| Agricultural and Biological Sciences | 3 | 6% |
| Other | 7 | 14% |
| Unknown | 13 | 25% |
Attention Score in Context
This research output has an Altmetric Attention Score of 4. 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 20 March 2018.
All research outputs
#6,814,253
of 23,028,364 outputs
Outputs from Journal of Medical Case Reports
#536
of 3,948 outputs
Outputs of similar age
#128,757
of 359,252 outputs
Outputs of similar age from Journal of Medical Case Reports
#9
of 82 outputs
Altmetric has tracked 23,028,364 research outputs across all sources so far. This one has received more attention than most of these and is in the 70th percentile.
So far Altmetric has tracked 3,948 research outputs from this source. They receive a mean Attention Score of 4.0. This one has done well, scoring higher than 86% of its peers.
Older research outputs will score higher simply because they've had more time to accumulate mentions. To account for age we can compare this Altmetric Attention Score to the 359,252 tracked outputs that were published within six weeks on either side of this one in any source. This one has gotten more attention than average, scoring higher than 63% of its contemporaries.
We're also able to compare this research output to 82 others from the same source and published within six weeks on either side of this one. This one has done well, scoring higher than 89% of its contemporaries.