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Early neurodevelopmental outcomes in a child with tuberous sclerosis complex treated with everolimus and vigabatrin
Sarah Ml Wilson1, Megan Samuels2, Luana Pimentel3
1Department of Pediatrics, Division of Child and Adolescent Neurology, The University of Texas Health Science Center at Houston, 6410 Fannin Street, Houston, TX, 77030, United States. Sarah.m.lund@uth.tmc.edu.
Insights
Early neurodevelopmental outcomes in a child with Tuberous Sclerosis Complex (TSC) treated with everolimus and vigabatrin showed average cognitive and motor skills, with some initial delays in adaptive behavior. Continued monitoring is essential for understanding long-term effects.
Area of Science:
- Neuroscience
- Pediatric Neurology
- Developmental Pediatrics
Background:
- Tuberous Sclerosis Complex (TSC) is a genetic disorder that can affect brain development.
- Infantile spasms and subependymal giant cell astrocytomas are common complications in TSC.
- Early intervention with medications like vigabatrin and everolimus is a growing area of research.
Purpose of the Study:
- To document the early neurodevelopmental trajectory of a child diagnosed with Tuberous Sclerosis Complex.
- To assess the impact of combined everolimus and vigabatrin treatment on neurodevelopmental outcomes in infancy.
Main Methods:
- A case report of a five-year-old girl with TSC.
- Treatment initiated with vigabatrin at seven weeks for infantile spasms and everolimus at two months for a subependymal giant cell astrocytoma.
- Neuropsychological assessments using Bayley-III and Vineland-II at 12, 24, and 36 months of age.
Main Results:
- Bayley-III assessments revealed high average cognitive and language scores at specific time points, with overall average cognitive, language, and motor composite scores.
- Vineland-II assessments indicated initial moderately low standard scores in daily living skills and adaptive behavior at 12 months.
- Later Vineland-II assessments showed average standard scores across communication, socialization, daily living skills, and motor skills.
Conclusions:
- This case provides insight into the early neurodevelopmental outcomes of a TSC patient treated with everolimus and vigabatrin during infancy.
- Longitudinal follow-up is crucial for a comprehensive understanding of the effects of early mTOR inhibitor and vigabatrin therapy in TSC.
- Further research is needed to establish the broader implications for neurodevelopment in TSC patients.
Objectives:
To report early neurodevelopmental outcomes in a child with Tuberous Sclerosis Complex (TSC) treated with everolimus and vigabatrin.
Methods:
The authors report a five-year-old girl with Tuberous Sclerosis Complex who was initiated on vigabatrin at seven weeks old to treat infantile spasms and on everolimus at two months of age to treat a subependymal giant cell astrocytoma. Neuropsychological assessments were conducted in this patient at 12, 24, and 36 months using the Bayley-III and Vineland-II.
Results:
On the Bayley-III, the patient had a high average cognitive composite score at 12 months and a high average language composite score at 36 months. Bayley-III assessments at 12, 24, and 36 months, yielded average cognitive, language, and motor composite scores. On the Vineland-II at 12 months, her standard score fell in the moderately low range on daily living skills and overall adaptive behavior. Vineland-II assessments at 12, 24, and 36 months yielded average range standard scores in the areas of communication, socialization, daily living skills, overall adaptive behavior, and motor skills.
Discussion:
This case highlights early neurodevelopmental outcomes in one TSC child treated with everolimus and vigabatrin in infancy. Continued assessment and longitudinal follow-up is required to understand the broader implications of early treatment with mTOR inhibitors and vigabatrin in TSC patients in childhood.
