RESUMO
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.
Assuntos
Triagem Neonatal/métodos , Esclerose Tuberosa/diagnóstico , Anticonvulsivantes/uso terapêutico , Encéfalo/patologia , Desenvolvimento Infantil , Progressão da Doença , Diagnóstico Precoce , Humanos , Lactente , Recém-Nascido , Imageamento por Ressonância Magnética , Esclerose Tuberosa/patologia , Esclerose Tuberosa/fisiopatologia , Esclerose Tuberosa/terapiaRESUMO
PURPOSE: The purpose of this study was to examine the developmental delay in non- handicapped low birth weight infants, with an emphasis on the delayed language development and the perinatal risk factors affected early language development. METHODS: The sample consisted of 31 preterm infants with birth weight less than or equal to 2,000 g who had no obvious neurological impairment at the age of 18-32 months. Each infant was assessed using three instruments; the Bayley Scales of Infant Development, the Capute Scales, and the Sequenced Language Scale for Infants (SELSI). RESULTS: On Bayley Scales of Infant Development, mental developmental index (MDI) was 81.0+/-17.1 and psychomotor developmental index (PDI) was 90.3+/-13.7. On the Capute scales, 38.7% of infants exhibited a significant language delay, below 70 at the age of 18- 32 months. On the SELSI, expressive language was delayed 5.7 months, receptive language, 5.4 months. On the Capute scales, expressive language was significantly related with gestational age and duration of oxygen therapy. Receptive language was associated with gestational age only. On the SELSI, language developmental quotient was influenced by gestational age, days on ventilation, and duration of oxygen therapy. CONCLUSION: 38.7% of non-handicapped low birth weight infants exhibited clinically significant delay in language development at the age of 18-32 months. Language delay was significantly related with gestational age, days on ventilation, and duration of oxygen therapy. The most single significant perinatal risk factor for language delay was gestational age.