Common neuropsychiatric features in 22q11.2 deletion syndrome

chromosome 22

Myoclonic epilepsy, parkinsonism, schizophrenia and left-handedness as common neuropsychiatric features in 22q11.2 deletion syndrome

22q11.2 deletion is one of the most common microdeletion syndromes. The clinical features of this condition are broad and highly variable across physical, developmental, and mental health domains.

This article analyzes neurological and psychiatric characteristics of 56 adult Italian patients with 22q11.2 deletion syndrome. Of the 56 patients, parkinsonism was observed in 31 patients and psychotic disorders, including schizophrenia, in 22 patients. Epilepsy, primarily the juvenile myoclonic epilepsy phenotype, was found in 10 patients. Reduced IQ was reported in 58% of patients, including 31% with moderate-to-severe intellectual disability. The researchers also reported left-handiness, in around 30% of patients, as a novel finding of the study.

All of the patients in the study underwent video-EEG recordings, which found abnormal findings in 8 of the 10 patients with epilepsy and generalized abnormalities in 19 of the 46 patients without an epilepsy diagnosis.

Additionally, the authors found evidence to suggest that there is an inverse correlation between low IQ and cardiac malformations, a direct association between psychosis and both mental delay and epilepsy and an inverse correlation between parkinsonism and epilepsy.

In summary, the authors found that cognitive impairment, schizophrenia, epilepsy, and parkinsonism are the primary neuropsychiatric features in 22q11.2 deletion syndrome. In particular, 22q11.2 deletion patients are at high risk for parkinsonism.

Fanella M. et al. “Myoclonic Epilepsy, Parkinsonism, Schizophrenia and Left-Handedness as Common Neuropsychiatric Features in 22q11.2 Deletion Syndrome.” Journal of Medical Genetics, Oct. 2019, [ahead of print], doi:10.1136/jmedgenet-2019-106223.

Articles of the month are chosen from newly published genetic research by CDO consulting medical advisor and geneticist, Dr. Iosif Lurie, M.D. PhD  For more information on any article please contact info@chromodisorder.org