Data Analyses for the Establishment of The Nail Patella Syndrome (NPS) Behavioral Phenotype

Principal Investigator: Elaine Tierney

Subjects will not be seen at KKI as part of this study. This study will analyze data collected as part of the previously approved and now closed RPN 00-06-03-05 (entitled, The Behavioral Phenotype of Nail Patella Syndrome). This study will create a database comprised of data/information collected during RPN 00-06-23-05 and will incorporate some stored data from one other nail patella syndrome study (at Johns Hopkins Hospital) and will perform data analyses.

Specific research questions to be addressed as part of this research include: 1) Do individuals with nail-patella syndrome (NPS) exhibit particular characteristics of behavior and cognition that might indicate that NPS presents with a specific behavioral phenotype? and 2) Do individuals with NPS exhibit Parkinsonian symptoms of motor abnormalities, attentional difficulties, fatigue, anxiety, mood, and psychotic symptoms?

At Kennedy Krieger Institute:

Individuals diagnosed with nail-patella syndrome participated in study 00-06-03-05. The individuals (and/or a parent/ legal guardian if the subject was younger than 18 years of age) were asked to complete self-report or parent -completed checklists. These measures were age-dependent and most have well-established reliability and validity, while the others were used to gather needed additional information.

As part of this study, the results of the measures collected during the original KKI NPS study will be compared to normative data that is published by the authors of the measures.

Also, if this previously approved protocol (00-06-03-05) is reopened, we will analyze and combine the data with data collected through one other NPS study being conducted by the research team at Johns Hopkins Hospital (RPN 03-06-05-04) on which this PI (Tierney) is a co-investigator.