Phelan-McDermid syndrome in two adult brothers: atypical bipolar disorder as its psychopathological phenotype?
Open accessAbstract
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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SHANK3 mutations have been identified in individuals developing adult-onset SHANK3-related disorders, such as schizophrenia and bipolar disorders.
“SHANK3 mutations have also been identified in individuals developing adult-onset SHANK3 related-disorders, such as schizophrenia and bipolar disorders 96,97”
From Progress toward treatments for synaptic defects in autism (2013) · cites this paper as [96]
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- Authors
- Verhoeven, W. M. A., Egger, J., Willemsen, Leijer, D., & Kleefstra
- Affiliations
- Erasmus MC (NL)
- Radboud University Nijmegen (NL)
- Radboud University Medical Center (NL)
- Corresponding author
- Verhoeven, Willem M.A.
- Venue
- Neuropsychiatric Disease and Treatment
- Publisher
- Informa UK Limited
- Published
- 2012-04
- Volume
- 8
- Pages
- 175
- ISSN
- 1176-6328 (ISSN-L)
- PMC
- PMC3346055
- OpenAlex
- W2141893437
- Cited by
- 57
- References
- 31
- Citations by year
- 2025: 1 · 2024: 1 · 2023: 3 · 2022: 4 · 2021: 4 · 2020: 6 · 2019: 3 · 2018: 9 · 2017: 5 · 2016: 5 · 2015: 6 · 2014: 1 · 2013: 7 · 2012: 2
- FWCI
- 3.08
- Type
- journal article
- Language
- en
- Open access
- gold
- doi.org
- Licence
- Locations
- Neuropsychiatric Disease and Treatment (publishedVersion, cc-by-nc)
- Europe PMC (PubMed Central) (publishedVersion)
- PubMed Central (publishedVersion)
- PubMed (publishedVersion)
- EUR Research Repository (Erasmus University Rotterdam) (publishedVersion, other-oa)
- EUR Research Repository (Erasmus University Rotterdam) (submittedVersion, other-oa)
- RePub (Erasmus University Rotterdam) (submittedVersion, other-oa)
- DOAJ (DOAJ: Directory of Open Access Journals) (submittedVersion, cc-by-sa)
- Dove Medical Press (Taylor and Francis Group) (submittedVersion, cc-by-nc)
- Radboud Repository (Radboud University) (submittedVersion)
- Radboud Repository (Radboud University) (submittedVersion, other-oa)
- Funders
- Radboud Universiteit
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomic variations and chromosomal abnormalities
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
- Health Sciences › Medicine › Psychiatry and Mental health › Bipolar Disorder and Treatment
- Keywords
- Phelan-McDermid syndrome, 22q13.3 deletion, SHANK3, cerebellar vermis hypoplasia, behavioral phenotypes, mood stabilizers, intellectual disability, perseveration, speech delay
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
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