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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 MA Verhoeven, Jos IM Egger, Marjolein H Willemsen, Gert JM de Leijer, Tjitske 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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Geographical breakdown

Country Count As %
Netherlands 1 1%
Italy 1 1%
Unknown 93 98%

Demographic breakdown

Readers by professional status Count As %
Researcher 20 21%
Student > Ph. D. Student 13 14%
Student > Bachelor 13 14%
Student > Master 7 7%
Student > Doctoral Student 7 7%
Other 15 16%
Unknown 20 21%
Readers by discipline Count As %
Medicine and Dentistry 24 25%
Psychology 18 19%
Agricultural and Biological Sciences 10 11%
Neuroscience 7 7%
Biochemistry, Genetics and Molecular Biology 3 3%
Other 12 13%
Unknown 21 22%
Attention Score in Context

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
#20,823,121
of 25,584,565 outputs
Outputs from Neuropsychiatric Disease and Treatment
#2,293
of 3,120 outputs
Outputs of similar age
#135,504
of 173,277 outputs
Outputs of similar age from Neuropsychiatric Disease and Treatment
#9
of 9 outputs
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