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Phelan-McDermid syndrome in two adult brothers: atypical bipolar disorder as its psychopathological phenotype?

Overview of attention for article published in Neuropsychiatric Disease and Treatment, April 2012
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Title
Phelan-McDermid syndrome in two adult brothers: atypical bipolar disorder as its psychopathological phenotype?
Published in
Neuropsychiatric Disease and Treatment, April 2012
DOI 10.2147/ndt.s30506
Pubmed ID
Authors

Willem M.A. Verhoeven, J Egger, Willemsen, De Leijer, Kleefstra

Abstract

The 22q13.3 deletion, or Phelan-McDermid syndrome, is characterized by global intellectual disability, generalized hypotonia, severely delayed or absent speech associated with features of autism spectrum disorder, and minor dysmorphisms. Its behavioral phenotype comprises sleep disturbances, communication deficits, and motor perseverations. Data on psychological dysfunctions are so far not available. Previous studies have suggested that the loss of one copy of the gene SH3 and multiple ankyrin repeat domains 3 (SHANK3) is related to the neurobehavioral phenotype. Additional genes proximal to SHANK3 are also likely to play a role in the phenotype of patients with larger deletions. The present paper describes two adult brothers with an identical 2.15 Mb 22qter (22q13.32q13.33) deletion, of whom the youngest was referred for evaluation of recurrent mood changes. In both patients, magnetic resonance imaging of the brain showed hypoplasia of the vermis cerebelli. Extensive clinical examinations led to a final diagnosis of atypical bipolar disorder, of which symptoms fully remitted during treatment with a mood stabilizer. In the older brother, a similar psychopathological picture appeared to be present, although less severe and with a later onset. It is concluded that the behavioral phenotype of the 22q13.3 deletion syndrome comprises absent or delayed speech and perseverations with associated autistic-like features, whereas its psychopathological phenotype comprises an atypical bipolar disorder. The latter may have implications for the treatment regime of the syndrome-related behavioral disturbances.

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Mendeley readers

The data shown below were compiled from readership statistics for 70 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Netherlands 2 3%
Italy 1 1%
Unknown 67 96%

Demographic breakdown

Readers by professional status Count As %
Researcher 17 24%
Student > Bachelor 13 19%
Student > Ph. D. Student 10 14%
Student > Doctoral Student 6 9%
Student > Master 6 9%
Other 11 16%
Unknown 7 10%
Readers by discipline Count As %
Medicine and Dentistry 21 30%
Psychology 17 24%
Agricultural and Biological Sciences 9 13%
Neuroscience 6 9%
Social Sciences 2 3%
Other 7 10%
Unknown 8 11%

Attention Score in Context

This research output has an Altmetric Attention Score of 1. 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 19 April 2012.
All research outputs
#10,791,599
of 13,559,312 outputs
Outputs from Neuropsychiatric Disease and Treatment
#1,763
of 2,333 outputs
Outputs of similar age
#87,214
of 122,430 outputs
Outputs of similar age from Neuropsychiatric Disease and Treatment
#24
of 33 outputs
Altmetric has tracked 13,559,312 research outputs across all sources so far. This one is in the 11th percentile – i.e., 11% of other outputs scored the same or lower than it.
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We're also able to compare this research output to 33 others from the same source and published within six weeks on either side of this one. This one is in the 12th percentile – i.e., 12% of its contemporaries scored the same or lower than it.