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Implications of delayed diagnosis of infantile spasm in a child with Down syndrome
Allison Buterbaugh1, Jeannie Visootsak1
1Department of Human Genetics, Emory University School of Medicine, Atlanta, GA.
Insights
Delayed diagnosis of infantile spasms in infants with Down syndrome (DS) can lead to developmental regression. Early detection is crucial for effective treatment and better outcomes in children with DS experiencing seizures.
Area of Science:
- Genetics
- Neurology
- Developmental Pediatrics
Background:
- Down syndrome (DS), caused by Trisomy 21, is the leading genetic cause of intellectual disability.
- Infantile spasms occur in 1-13% of children with DS, presenting similarly to typically developing children but often with diagnostic delays.
Purpose of the Study:
- To highlight the implications of delayed infantile spasm diagnosis in a case of Down syndrome.
- To emphasize the impact of delayed diagnosis on treatment and developmental trajectory.
Main Methods:
- Case report presentation.
- Review of clinical and electroencephalography findings.
- Analysis of diagnostic timeline and subsequent developmental outcomes.
Main Results:
- A 5-month delay in diagnosing infantile spasms was observed in a male infant with DS.
- The delayed diagnosis was associated with subsequent developmental regression and intractable seizures.
Conclusions:
- Delayed diagnosis of infantile spasms in Down syndrome can negatively impact treatment efficacy and long-term developmental outcomes.
- Increased awareness and prompt diagnosis are essential for managing seizures in infants with DS.
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 spasm being the most frequent type of seizure identified. Although the clinical and electroencephalography findings of infantile spasm 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 mo. 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 spasm, delayed diagnosis.
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