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Neurologic challenges in 22q11.2 deletion syndrome
Author(s) -
Hopkins Sarah E.,
Chadehumbe Madeline,
Blaine Crowley Terrence,
Zackai Elaine H.,
Bilaniuk Larissa T.,
McDonaldMcGinn Donna M.
Publication year - 2018
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.38614
Subject(s) - deletion syndrome , medicine , epilepsy , neuroimaging , intensive care medicine , neuroscience , pediatrics , psychology , psychiatry , biology , phenotype , biochemistry , gene
Children with 22q11.2 deletion syndrome often come to medical attention due to signs and symptoms of neurologic dysfunction. It is imperative to understand the expected neurologic development of patients with this diagnosis in order to be alert for the potential neurologic complications, including cortical malformations, tethered cord, epilepsy, and movement disorders. We present an update of brain imaging findings from the CHOP 22q and You Center, a review of the current literature, and our current management practices for neurological issues.