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Research Interests

Differential Diagnosis

A variety of inflammatory disorders of the central nervous system (CNS) present in childhood. The clinical presentations of these disorders overlap considerably, making the differential diagnosis difficult. We are currently involved in a project to help reliably differentiate inflammatory disorders of the CNS in childhood (e.g., MS, Acute Disseminated Encephalomyelitis, Devic's Disease, etc.) based on clinical presentations, laboratory findings, and neuroimaging findings. Providing accurate definitions is necessary to implement effective treatments and understand the long-term prognosis for these children and adolescents.

Neurocognitive and Psychiatric Features of Pediatric MS

It is well-documented that approximately 50% of adults with MS demonstrate cognitive dysfunction. Mood disturbances are also common. However, the extent to which children and adolescents with MS show cognitive loss and mood problems is largely unknown. The purposes of this investigation are to:

  • Identify areas of cognitive impairment in children with multiple sclerosis,
  • Identify clinical factors that predict cognitive loss such that interventions can be planned and implemented, and determine the nature and extent of psychiatric dysfunction in children and adolescents with multiple sclerosis.

Neuroimaging

While modern imaging techniques, such as magnetic resonance imaging (MRI), have aided the early diagnosis and characterization of Multiple Sclerosis (MS) in adults, their application to the pediatric subset of this disease has been understudied. Further, little investigative work has been done to apply more sophisticated MRI techniques, such as Diffusion Tensor (DT), Diffusion Weighted Imaging (DWI), Magnetic Resonance Spectroscopy (MRS) and Magnetization Transfer Resonance (MTR) to the pediatric population. In adult studies, these techniques have clearly illustrated the early loss of brain tissue (atrophy) and widespread involvement of "normal" appearing brain matter early in the course of MS. Aided by this knowledge, early initiation of disease modifying therapies is possible, resulting in better long-term outcomes. Due to lack of sufficient data, this is not currently true in pediatric MS patients. Our center is currently involved with developing neuroimaging protocols to help resolve these issues and better define neuroimaging characteristics of pediatric MS patients.

Proteomics

Proteomics is the study of proteins. The pathogenesis of MS has yet to be determined and no studies have yet been published regarding the proteomic analysis of pediatric patients. In this study we plan to investigate differences between pediatric MS patients and healthy children by examining their blood serum proteins. Identification of these proteins may help identify new biologic markers for the diagnosis of this disease or may help yield potential new targets for therapeutic interventions.

Epidemiology

Prior studies suggest that approximately 5% of patients with MS experience symptom onset prior to the age of 18. However, the true prevalence is largely unknown. This study seeks to estimate the prevalence of Pediatric MS on Long Island. Further, recent observations suggest that there are a high number of ethnic and racial minorities amongst pediatric MS cases. For example, at the National Pediatric MS Center at Stony Brook, 53% of MS patients referred to the Center were of African American or Hispanic descent, in contrast to only 15% of patients who were not ultimately diagnosed with MS. These are preliminary findings, but reports from other researchers indicate similar patterns. As referral biases cannot be ruled out, formal epidemiological surveys are clearly necessary. Thus, this examination will attempt to identify all pediatric MS cases on Long Island and compare the demographic features of this group to that of the underlying population.

Genetics

MS is a complex genetic disorder influenced by unknown environmental factors. The primary goal of this investigation is to identify the underlying genetic causes of early onset MS. The specific aims of the study are:

  • To create a DNA repository and database and
  • To study candidate genes.

More specifically, we will analyze 'susceptibility' and 'modifier candidate genes,' including HLA-DR, IL-4R, CCR5, NOS2A, and NOS3.