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Updated: Apr 25, 2026
Assessment and Evaluation of the High Risk Neonate: The NICU Network Neurobehavioral Scale
Published on: August 25, 2014
Early neurodevelopmental screening in tuberous sclerosis complex: a potential window of opportunity
Tanjala T Gipson1, Gwendolyn Gerner2, Siddharth Srivastava3
1Tuberous Sclerosis Clinic, Kennedy Krieger Institute, Baltimore, Maryland; Department of Neurology and Developmental Medicine, Kennedy Krieger Institute, Baltimore, Maryland; Clinical Trials Unit, Hugo W. Moser Research Institute, Inc., Kennedy Krieger Institute, Baltimore, Maryland; Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, Maryland.
Insights
Early neurodevelopmental assessment using Capute Scales in infants with tuberous sclerosis complex can identify delays and guide interventions, improving outcomes for these high-risk children.
Area of Science:
- Pediatric Neurology
- Genetic Disorders
- Neurodevelopmental Pediatrics
Background:
- Tuberous sclerosis complex (TSC) infants face increased risks for intellectual disability and autism.
- Limited data exist on early neurodevelopmental profiles and standardized assessments for TSC infants.
- Identifying early risk factors is crucial for timely intervention in TSC.
Observation:
- Two age-matched infants with TSC were monitored for infantile spasms, epilepsy treatments, and neurodevelopmental progress during their first year.
- Capute Scales were utilized for structured neurodevelopmental evaluations to compare developmental trajectories.
- Infant 1 experienced spasms at 4 months, treated successfully with vigabatrin, but showed expressive language delay at 12 months.
- Infant 2 had early partial seizures, complex treatment, and developed global delay by 8 months.
Findings:
- Early identification of developmental delays, such as expressive language and global delays, is feasible in infants with TSC.
- The Capute Scales facilitated the characterization of distinct neurodevelopmental profiles in the two infants.
- Prompt intervention with speech therapy for Infant 1 showed positive results, while Infant 2 required multidisciplinary therapies for global delay.
Implications:
- The Capute Scales offer a practical clinical tool for early neurodevelopmental assessment in infants with TSC.
- This approach can inform targeted interventions and serve as a prognostic indicator for long-term outcomes.
- Standardized neurodevelopmental assessments are vital for research and clinical decision-making in TSC management.
Background:
Infants born with tuberous sclerosis complex, a genetic condition resulting from a mutation in TSC1 or TSC2, are at increased risk for intellectual disability and/or autism. Features of epilepsy, neuropathology, genetics, as well as timing and type of mechanism-based medications have been proposed as risk factors. Neurodevelopmental outcomes have been reported among these studies; however, few include data about the individuals' early neurodevelopmental profile, a factor that may contribute significantly to these outcomes. Further, there is no clinical standard for the neurodevelopmental assessment of these infants. The paucity of data regarding the natural history of neurodevelopment in infants with tuberous sclerosis complex and the lack of a gold standard for neurodevelopmental evaluation present a significant challenge for clinicians and researchers.
Method:
During the first year of life, we tracked the onset of infantile spasms, the type and timing of antiepileptic treatments, and the associated response of two age-matched infants with tuberous sclerosis complex. We also employed Capute Scales as a part of a structured neurodevelopmental evaluation to characterize and compare their neurodevelopmental profiles.
Results:
Infant 1 developed infantile spasms with confirmed hypsarrhythmia at 4 months of age. Treatment with vigabatrin was initiated within 24 hours with near immediate cessation of seizures and no further seizures to date. Expressive language delay was detected at 12 months and treated with speech and/or language therapy. Infant 2 developed complex partial seizures at 1 month. Treatment included levetiracetam, oxcarbazepine, and the ketogenic diet. Vigabatrin was initiated on detection of hypsarrhythmia after 4 months. Intractable epilepsy persists to date. Global developmental delay was evident by 8 months and treated with physical, occupational, and speech and/or language therapy.
Conclusion:
Many risk factors have been associated with intellectual disability and/or autism in individuals with tuberous sclerosis complex; however, few data are available regarding practical clinical tools for early identification. In our case series, inclusion of the Capute Scales as a part of routine medical care led to the identification of developmental delays in the first 12 months of life and selection of targeted neurodevelopmental interventions. Development of a risk-based assessment using this approach will be the focus of future studies as it may provide a potential window of opportunity for both research and clinical purposes. In research, it may serve as an objective outcome measure. Clinically, this type of assessment has potential for informing clinical treatment decisions and serving as a prognostic indicator of long-term cognitive and psychiatric outcomes.
