Neuropsychological phenotype and psychopathology in seven adult patients with Phelan‐McDermid syndrome: implications for treatment strategy
Open accessAbstract
Phelan‐McDermid syndrome presents with specific deficits in neurocognition, cerebellar regulatory functioning and enhanced vulnerability for the development of atypical bipolar disorder.
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Other monogenic syndromes like Kleefstra, KBG, WitKoS, Angelman, Coffin-Sirris, Rubinstein-Taybi, Phelan-McDermid, Smith-Magenis Syndrome and Kabuki syndrome also have a clear prefrontal component in their behavioral and cognitive phenotype.
“Other monogenic syndromes like Kleefstra, KBG, WitKoS, Angelman, Coffin-Sirris, Rubinstein-Taybi, Phelan-McDermid, Smith–Magenis Syndrome and Kabuki syndrome also have a clear prefrontal component in their behavioral and cognitive phenotype [272–280].”
From Development of prefrontal cortex (2022) · cites this paper as [276]
The Discussion (page unavailable) identifies executive and social-cognitive deficits in Phelan–McDermid syndrome, supporting a cognitive and behavioral component of the claim. The Methods mention the (orbito)prefrontal cortex in a general explanation of alexithymia, but the paper does not establish a clear prefrontal component specifically for Phelan–McDermid syndrome. This source does not address the other syndromes in the list. (LLM, conf=0.82)
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- Lezak, M.D., Howieson, D.B. & Loring, D.W. (2004) Neuropsycholog- ical Assessment, 4th edn. Oxford University Press, New York, NY.
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Development of prefrontal cortex
Kolk, S. M., & Rakic, P. (2022) · Neuropsychopharmacology · doi:10.1038/s41386-021-01137-9 · Cited by 378 · see citing works
- Authors
- Egger, J. I. M., Zwanenburg, R. J., van Ravenswaaij‐Arts, C. M. A., Kleefstra, T., & Verhoeven, W. M. A.
- Affiliations
- Radboud University Nijmegen (NL)
- University Medical Center Groningen (NL)
- Department of Genetics University of Groningen, University Medical Center Groningen Groningen
- Erasmus MC (NL)
- Corresponding author
- Egger, J. I. M.
- Venue
- Genes, Brain and Behavior
- Publisher
- Wiley
- Published
- 2016-02-17
- Volume
- 15
- Issue
- 4
- Pages
- 395-404
- ISSN
- 1601-183X (ISSN-L)
- 1601-1848
- OpenAlex
- W2252951986
- Cited by
- 45
- References
- 49
- Citations by year
- 2026: 2 · 2025: 4 · 2024: 4 · 2023: 5 · 2022: 3 · 2021: 6 · 2020: 5 · 2019: 6 · 2018: 5 · 2017: 4 · 2016: 1
- FWCI
- 4.31
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Locations
- Genes Brain & Behavior (publishedVersion)
- PubMed (publishedVersion)
- University of Groningen research database (University of Groningen / Centre for Information Technology) (publishedVersion)
- EUR Research Repository (Erasmus University Rotterdam) (submittedVersion)
- Radboud Repository (Radboud University) (submittedVersion)
- University of Groningen research database (University of Groningen / Centre for Information Technology) (submittedVersion)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomic variations and chromosomal abnormalities
- Life Sciences › Neuroscience › Cognitive Neuroscience › Autism Spectrum Disorder Research
- Keywords
- Phelan-McDermid syndrome, SHANK3, neuropsychological phenotype, psychopathology, bipolar spectrum disorders, mood stabilization, cerebellar vermis hypoplasia, corpus callosum thinning, intellectual disability, communication difficulties, executive dysfunction, adult patients
- MeSH terms
- Adult, Chromosome Deletion, Chromosomes, Human, Pair 22, Female, Humans, Male, Nerve Tissue Proteins, Phenotype, Psychopathology, Chromosome Disorders
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