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Genotype-phenotype correlations
Original article
Myoclonic epilepsy, parkinsonism, schizophrenia and left-handedness as common neuropsychiatric features in 22q11.2 deletion syndrome
  1. Martina Fanella1,
  2. Marianna Frascarelli1,
  3. Caterina Lambiase2,
  4. Alessandra Morano1,
  5. Marta Unolt2,
  6. Natascia Liberati2,
  7. Jinane Fattouch1,
  8. Antonino Buzzanca1,
  9. Tommaso Accinni1,
  10. Marco Ceccanti1,
  11. Alessandro Viganò1,
  12. Massimo Biondi1,
  13. Claudio Colonnese1,3,
  14. Anna Teresa Giallonardo1,
  15. Fabio Di Fabio1,
  16. Antonio Pizzuti4,
  17. Carlo Di Bonaventura1,
  18. Alfredo Berardelli1,3
  1. 1Department of Human Neurosciences, Sapienza University of Rome, Rome, Italy
  2. 2Department of Pediatrics, Sapienza University of Rome, Rome, Italy
  3. 3IRCCS "Neuromed", Pozzilli (IS), Italy
  4. 4Experimental Medicine, Universita 'La Sapienza', Rome, Italy
  1. Correspondence to Dr Carlo Di Bonaventura, Human Neuroscience, Sapienza University of Rome, Roma 00185, Italy; c_dibonaventura{at}yahoo.it

Abstract

Background 22q11.2 deletion syndrome (22q11.2DS) is considered as the genetic model of schizophrenia. However, its polymorphic nature has led researchers to further investigate its neuropsychiatric manifestations.

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 22q11.2DS is characterised by left-handedness and neuropsychiatric features such as cognitive impairment, schizophrenia, epilepsy and parkinsonism. GGE, mostly the JME phenotype, is the predominant epilepsy type. The significant association between 22q11.2DS and parkinsonian features confirms these patients’ genetic susceptibility to parkinsonism. Despite the lack of any conclusive evidence, our study suggests a possible relationship between the analysed clinical variables: (1) an inverse correlation between low IQ/psychosis/epilepsy and major cardiac diseases; (2) a direct association between psychosis and both mental delay and epilepsy; and (3) an inverse correlation between parkinsonism and epilepsy.

  • 22q11.2 deletion syndrome
  • schizophrenia
  • myoclonic epilepsy
  • parkinson’s disease
  • left-handedness

https://doi.org/10.1136/jmedgenet-2019-106223

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    Footnotes

    • Correction notice This article has been corrected since it was published Online First. Professor Alfredo Berardelli's affiliations have been updated.

    • Contributors MFa, CDB, MFr and FDF conceived of the presented idea. AB, MB and AP supervised the findings of this work. All authors discussed the results and contributed to the final manuscript. MFa, MFr, AB, TA, NL, MU, CL, MC and AV carried out the experiment. MFa wrote the manuscript with support from AM and CDB. ATG, JF and CC contributed to the interpretation of the results. All authors provided critical feedback and approved the final version of the manuscript.

    • Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.

    • Competing interests None declared.

    • Patient consent for publication Obtained.

    • Provenance and peer review Not commissioned; externally peer reviewed.

    • Data availability statement All data relevant to the study are included in the article or uploaded as supplementary information.