Implications of delayed diagnosis of infantile spasms in a child with Down syndrome

Article type: Research Article

Authors: Buterbaugh, Allison | Visootsak, Jeannie

Affiliations: Department of Human Genetics, Emory University School of Medicine, Atlanta, GA, USA

Note: [] Correspondence: Dr. Jeannie Visootsak, Emory University School of Medicine, 2165 N. Decatur Rd, Decatur, GA 30030, USA. Tel.: +1 404 778 8590; Fax: +1 404 778 8562; E-mail: [email protected]

Abstract: Trisomy 21, leading to Down syndrome (DS) is the most common genetic cause of intellectual disability. Approximately 1–13% of children with DS have co-morbid seizures, with infantile spasms being the most frequent type of seizure identified. Although the clinical and electroencephalography findings of infantile spasms are similar between children with DS and typically developing children, there is often a delay in the diagnosis of these seizures in children with DS. We present the case of a male infant with DS, where the diagnosis of infantile spasm was delayed by 5 months. His case was associated with developmental regression and intractable seizure activity following diagnosis. The case highlights the implications of delayed diagnosis on treatment strategies and developmental outcomes.

Keywords: Down syndrome, infantile spasms, delayed diagnosis

DOI: 10.3233/JPN-140648

Journal: Journal of Pediatric Neurology, vol. 12, no. 2, pp. 105-107, 2014