Abstract | BACKGROUND: METHODS: We enrolled 56 adults (38 men, 18 women) diagnosed with 22q11.2DS. All subjects were evaluated by a multidisciplinary team. The neuropsychiatric features were investigated by means of clinical and neurophysiological evaluation (video-EEG). RESULTS: Thirty per cent of our patients were left-handed. Fifty-eight per cent had a low IQ, and 22 of 56 subjects had psychotic disorders (13 of 22 with schizophrenia). Eighteen patients reported at least one seizure in their lifetime, and ten were diagnosed with epilepsy; among them, seven had genetic generalised epilepsy (GGE), and five of seven showed features suggestive of juvenile myoclonic epilepsy (JME). Video-EEG recordings revealed generalised epileptiform abnormalities in 24 of 56 cases. Besides, only one patient with epilepsy had a cardiac malformation. Lastly, 31 of 56 subjects presented with parkinsonism, 16 of whom were taking neuroleptics. None of the 15 patients with parkinsonism not related to neuroleptic therapy was diagnosed with epilepsy, compared with 6 of those taking antipsychotics. CONCLUSIONS:
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Authors | Martina Fanella, Marianna Frascarelli, Caterina Lambiase, Alessandra Morano, Marta Unolt, Natascia Liberati, Jinane Fattouch, Antonino Buzzanca, Tommaso Accinni, Marco Ceccanti, Alessandro Viganò, Massimo Biondi, Claudio Colonnese, Anna Teresa Giallonardo, Fabio Di Fabio, Antonio Pizzuti, Carlo Di Bonaventura, Alfredo Berardelli |
Journal | Journal of medical genetics
(J Med Genet)
Vol. 57
Issue 3
Pg. 151-159
(03 2020)
ISSN: 1468-6244 [Electronic] England |
PMID | 31506323
(Publication Type: Journal Article)
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Copyright | © Author(s) (or their employer(s)) 2020. No commercial re-use. See rights and permissions. Published by BMJ. |
Topics |
- Adolescent
- Adult
- DiGeorge Syndrome
(genetics, physiopathology)
- Epilepsies, Myoclonic
(genetics, physiopathology)
- Female
- Functional Laterality
(physiology)
- Genetic Predisposition to Disease
- Humans
- Male
- Middle Aged
- Parkinsonian Disorders
(genetics, physiopathology)
- Phenotype
- Schizophrenia
(genetics, physiopathology)
- Young Adult
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