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Epileptic Spasms in Patients With Down Syndrome: Experiences From Caregivers
Daniel J Kats1,2, Vasiliki Patsiogiannis2, Brian G Skotko2,3
1School of Medicine, 12304Case Western Reserve University, Cleveland, OH, USA.
Insights
Infants with Down syndrome experiencing epileptic spasms often face developmental delays and autism spectrum disorder. Improved counseling and emotional support are crucial for families navigating these challenges.
Area of Science:
- Pediatrics
- Neurology
- Genetics
Background:
- Epileptic spasms are common in infants with Down syndrome.
- Existing research primarily focuses on treatment, neglecting developmental outcomes and caregiver support.
- Developmental sequelae and the impact of spasms on these are not well understood.
Purpose of the Study:
- To identify developmental sequelae associated with Down syndrome and epileptic spasms.
- To explore caregiver experiences regarding counseling, diagnosis, and follow-up for these conditions.
- To inform improved clinical practices for supporting affected families.
Main Methods:
- Chart review of patients at a Down syndrome specialty clinic.
- Interviews with parents of children diagnosed with Down syndrome and epileptic spasms.
- Analysis of developmental outcomes and caregiver-reported challenges.
Main Results:
- Persistent developmental delays and autism spectrum disorder were highly prevalent.
- Caregivers reported insufficient counseling and awareness of epileptic spasms leading to treatment delays.
- Inadequate emotional support post-diagnosis was a significant concern for families.
Conclusions:
- Pediatricians must educate parents of infants with Down syndrome about epileptic spasms.
- Emotional support and frequent follow-up are vital after diagnosing spasms.
- Clinicians should actively monitor for epilepsy and autism spectrum disorder in this population.
Abstract:
Epileptic spasms are the most common type of seizure in infants with Down syndrome; however, the scope of current literature is largely limited to treatment options. We performed a chart review of patients seen at a Down syndrome specialty clinic to identify potential developmental sequelae of Down syndrome and epileptic spasms. We further interviewed parents of the children with Down syndrome and epileptic spasms to identify areas for improvement in counseling, diagnosis, and follow-up. Persistent developmental delays and autism spectrum disorder were highly prevalent in our patients. Caregivers attributed delays in treatment to insufficient counseling and awareness of epileptic spasms. They also identified inadequate emotional support after the diagnosis of the spasms. When counseling parents of infants with Down syndrome, pediatricians should educate about epileptic spasms. If spasms are diagnosed, providing emotional support with frequent follow-up is important. Furthermore, clinicians should monitor for signs of epilepsy and autism spectrum disorder.
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