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.
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