DiGeorge syndrome: neurological features
Written and reviewed by Dr Ibrahim Imam, Consultant Neurologist. Last reviewed .
DiGeorge syndrome: neurological features. Cognitive impairment, Epilepsy: this may be myoclonic. Fully referenced neurology checklist.
Cerebral features
- Cognitive impairment
- Epilepsy: this may be myoclonic
- Parkinson’s disease (PD)
- Insomnia
- Restless sleep
- Left-handedness
Spinal features
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Psychiatric features
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Personality features
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Magnetic resonance imaging (MRI) brain: features
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Synonym
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References
- Marom T, Roth Y, Goldfarb A, Cinamon U. Head and neck manifestations of 22q11.2 deletion syndromes. Eur Arch Otorhinolaryngol 2012; 269:381-387.
- Demily C, Rossi M, Schneider M, et al. Neurocognitive and psychiatric management of the 22q11.2 deletion syndrome. Encephale 2015; 41:266-273.
- Mudigoudar B, Nune S, Fulton S, Dayyat E, Wheless JW. Epilepsy in 22q11.2 deletion syndrome: a case series and literature review. Pediatr Neurol 2017; 76:86-90.
- Eaton CB, Thomas RH, Hamandi K, et al. Epilepsy and seizures in young people with 22q11.2 deletion syndrome: Prevalence and links with other neurodevelopmental disorders. Epilepsia 2019; 60:818-829.
- Fanella M, Frascarelli M, Lambiase C, et al. Myoclonic epilepsy, parkinsonism, schizophrenia and left-handedness as common neuropsychiatric features in 22q11.2 deletion syndrome. J Med Genet 2020; 57:151-159.
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