You are seeing a free-to-access but limited selection of the activity Altmetric has collected about this research output.
Click here to find out more.
Mendeley readers
Attention Score in Context
| Title |
Behavior of 10 patients with FG syndrome (Opitz–Kaveggia syndrome) and the p.R961W mutation in the MED12 gene
|
|---|---|
| Published in |
American Journal of Medical Genetics. Part A, October 2008
|
| DOI | 10.1002/ajmg.a.32553 |
| Pubmed ID | |
| Authors |
John M. Graham, Jeannie Visootsak, Elisabeth Dykens, Lillie Huddleston, Robin D. Clark, Kenneth L. Jones, John B. Moeschler, John M. Opitz, Jackie Morford, Richard Simensen, R. Curtis Rogers, Charles E. Schwartz, Michael J. Friez, Roger E. Stevenson |
| Abstract |
Opitz and Kaveggia [Opitz and Kaveggia (1974); Z Kinderheilk 117:1-18] reported on a family of five affected males with distinctive facial appearance, mental retardation, macrocephaly, imperforate anus and hypotonia. Risheg et al. [Risheg et al. (2007); Nat Genet 39:451-453] identified an identical mutation (p.R961W) in MED12 in six families with Opitz-Kaveggia syndrome, including a surviving affected man from the family reported in 1974. The previously defined behavior phenotype of hyperactivity, affability, and excessive talkativeness is very frequent in young boys with this mutation, along with socially oriented, attention-seeking behaviors. We present case studies of two older males with FG syndrome and the p.R961W mutation to illustrate how their behavior changes with age. We also characterize the behavior of eight additional individuals with FG syndrome and this recurrent mutation in MED12 using the Vineland Adaptive Behavior Scales 2nd edition, the Reiss Profile of Fundamental Goals and Motivation Sensitivities, and the Achenbach Child Behavior Checklist. Males with this MED12 mutation had deficits in communication skills compared to their socialization and daily living skills. In addition, they were at increased risk for maladaptive behavior, with a propensity towards aggression, anxiety, and inattention. Based on the behavior phenotype in 10 males with this recurrent MED12 mutation, we offer specific recommendations and interventional strategies. Our findings reinforce the importance of testing for the p.R961W MED12 mutation in males who are suspected of having developmental and behavioral problems with a clinical phenotype that is consistent with FG syndrome. |
Mendeley readers
The data shown below were compiled from readership statistics for 42 Mendeley readers of this research output. Click here to see the associated Mendeley record.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Unknown | 42 | 100% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Student > Master | 8 | 19% |
| Researcher | 8 | 19% |
| Student > Ph. D. Student | 4 | 10% |
| Other | 2 | 5% |
| Student > Bachelor | 2 | 5% |
| Other | 4 | 10% |
| Unknown | 14 | 33% |
| Readers by discipline | Count | As % |
|---|---|---|
| Medicine and Dentistry | 7 | 17% |
| Psychology | 7 | 17% |
| Agricultural and Biological Sciences | 4 | 10% |
| Nursing and Health Professions | 2 | 5% |
| Biochemistry, Genetics and Molecular Biology | 2 | 5% |
| Other | 4 | 10% |
| Unknown | 16 | 38% |
Attention Score in Context
This research output has an Altmetric Attention Score of 3. 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 28 December 2022.
All research outputs
#8,544,090
of 25,394,764 outputs
Outputs from American Journal of Medical Genetics. Part A
#1,026
of 4,210 outputs
Outputs of similar age
#37,171
of 104,542 outputs
Outputs of similar age from American Journal of Medical Genetics. Part A
#5
of 26 outputs
Altmetric has tracked 25,394,764 research outputs across all sources so far. This one is in the 43rd percentile – i.e., 43% of other outputs scored the same or lower than it.
So far Altmetric has tracked 4,210 research outputs from this source. They receive a mean Attention Score of 4.3. This one has gotten more attention than average, scoring higher than 57% 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 104,542 tracked outputs that were published within six weeks on either side of this one in any source. This one is in the 17th percentile – i.e., 17% of its contemporaries scored the same or lower than it.
We're also able to compare this research output to 26 others from the same source and published within six weeks on either side of this one. This one is in the 23rd percentile – i.e., 23% of its contemporaries scored the same or lower than it.