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Biomedical subjects

Deepak Madhavan

Publications and source records attributed to Deepak Madhavan.

2 recordsLinked to original sources
PubMed2006

Mental retardation and relation to seizure and tuber burden in tuberous sclerosis complex.

In patients with tuberous sclerosis complex (TSC), the high rates of mental retardation are associated with cortical tubers, seizure activity, and genetic factors. The goal of the study was to investigate the relationship between bilateral cortical tubers and seizure variables and mental retardation in individuals with TSC. The records of 27 patients with TSC (age 6 months to 33 years) undergoing neuropsychological assessment and the following clinical variables were examined: bilateral versus non-bilateral cortical tubers, the age of seizure onset, and presence of infantile spasms. Results were statistically analyzed. Bilateral cortical tubers (p=0.02) and early age of seizure onset (p=0.04) were significantly related to impaired cognitive functioning. Only one of the seven patients with normal cognitive functioning had bilateral tubers, whereas 13/21 patients with intellectual impairment had bilateral tubers. Patients with normal cognitive functioning experienced a mean age of seizure onset after 6 years. A trend was observed between infantile spasms and cognitive functioning (p=0.06); the lack of statistical significance likely reflects the small sample size. Neither age nor gender was related to cognitive status. Further investigation incorporating additional neuroimaging factors, antiepileptic treatment effects, and genetic variables, is needed.

Adolescent↗
PubMed2006

Lafora disease.

Lafora disease (LD) is an autosomal recessive disorder characterized by seizures and progressive neurologic deterioration, and is usually fatal within 10 years of onset. LD is a member of the family of progressive myoclonic epilepsies, which are a heterogeneous group of disorders characterized by myoclonic epilepsy, developmental regression, and associated neurologic symptoms. The following is a report and discussion of a 20-year-old man with no relevant past medical history until the age of 16 years when he had his first generalized tonic-clonic seizure. At a recent medical evaluation, he reported having clusters of generalized tonic-clonic seizure activity 2 to 3 times per week, had recently developed status epilepticus, and was having progressive impairment of cognitive function. The unique clinical elements of LD, including later onset of disease, the excellent initial response to anticonvulsants, and the neurophysiologic clues to the diagnosis are discussed and detailed in relation to this man. Additional research is required to discover a third, unknown locus for LD and to further elucidate the features of the laforin and malin complex-associated pathway. No preventative or curative treatment is currently available for LD and treatment focuses on palliation.

Adolescent↗