Projects 2006-2007
Assessing Parenting Capacities
and Stress in
Neurofibromatosis 1
Principal Investigator: Larry Mullins, Ph.D., Professor, Department of Pediatrics
University of Oklahoma Health Sciences Center, Department of Pediatrics
Project Summary:
This study will identify caregiver needs and concerns about parenting their child with NF1. Specifically, we seek to identify parenting styles, types of parenting stress, levels of over-protectiveness, perceptions of their child’s vulnerability, and how these variables potentially influence the emotional, behavioral, and psychosocial adjustment in children with neurofibromatosis. To achieve these objectives, focus groups will be conducted with caregivers of children diagnosed with NF1 at the University of Oklahoma Health Sciences Center, and the M D Anderson Hospital in Houston, Texas. Qualitative analysis of the data collected in the focus groups will be used to subsequently assemble a battery of standardized assessment tools for parenting capacities, and to generate further hypotheses. Participants will also be asked to join a prospective cohort for further follow up in later parts of the study. Our long term objective is to develop a disease-relevant and clinically meaningful parenting intervention for caregivers of children with NF1.
Online CME: A Practical Course in Expanded Newborn Screening
[Project is currently on hold]
Principal Investigator: Susan E. Palmer, MD, PhD, Associate Professor, The University of Oklahoma Health Sciences Center, Department of Pediatrics
Project Summary:
This is a proposal to develop a Continuing Medical Education (CME) web site for education of primary care providers on the topic of expanded newborn screening (NBS), with features targeting specific NBS issues for the Heartland states. This web site will be established on the University of Oklahoma School of Medicine Continuing Medical Education web site, and the physicians will be able to take the course online and obtain CME credit. Funds are also requested to cover a reduction or elimination of CME fee for physicians in the Heartland states on a “first-come, first-served” basis for a limited number of physicians who first take the course.
Collaborations with other states include links to the NBS web sites of all the Heartland states Departments of Health, as well as other useful NBS links. Four Heartland states have also agreed to link to this site or announce it in NBS materials. The OUHSC CME site permits anyone to access the online courses; the fee is only paid if CME credit is desired by the user. Therefore the major goal is for this NBS course to become a resource for providers who are looking for additional sources of practical, user-friendly information.
Reduce Disparity of NBS Lab Services in the Heartland Region
Principal Investigator: Stanton Berberich, Ph.D., Program Manager Iowa Neonatal Metabolic Screening Program, University of Iowa
Project Summary:
Our project, in collaboration with Missouri, is to provide a forum where synergy can develop among the Heartland newborn screening laboratories, and opportunities for cooperation between states can be cultivated, leading to enhancements in newborn screening services within the Heartland region (Arkansas, Iowa, Kansas, Missouri, Nebraska, North Dakota, Oklahoma, and South Dakota). Through use of a survey, a two-day workshop, and monthly teleconferences, we will identify opportunities and develop action plans for the enhancement of NBS services, with particular attention to those projects with potential application to other HRSA regions.
Project Update:
All states completed a survey, and a two day workshop was held in Ankeny, IA March 29 and 30, 2007. See brochure below for more information.
Usher Syndrome In Children with Cochlear Implants
Principal Investigator: William J. Kimberling, Ph.D., Director, Center for the Study and Treatment of Usher Syndrome, Boys Town National Research Hospital
Project Summary:
Most prelingually deaf children are presently being detected early in life through newborn hearing screening programs common through out the heartland. Many of those with a severe to profound loss receive cochlear implants. Usher syndrome type I causes prelingual deafness and a progressive visual loss, retinitis pigmentosa. It is the major cause of combined deaf-blindness in the USA. Usher syndrome type I had been reported to occur in about 5% of children in schools for the deaf, however two recent reports indicate that the frequency among implant recipients is 7 to 21%. We propose a pilot study to determine the frequency of Usher syndrome in 100 implant recipients from Nebraska and Iowa. An innovative chip based technology will be used that provide high sensitivity and specificity at a reasonable cost. A questionnaire will be used to gather data about attitudes about genetic screening and medical and family data that may aid in designing future screening programs. This study will influence future deigns of newborn hearing screening programs by proving proof of principle of genetic screening in a smaller more manageable population. Furthermore, the study will lay the foundation for future studies of the genetic epidemiology of Usher syndrome and will demonstrate a mechanism for acquiring pediatric subject for clinical trials of substances hypothesized to slow or prevent the retinitis pigmentosa.
Two-tiered Newborn Screening for SCID utilizing TREC & IL-7
***CANCELLED***
Principal Investigator: Margaret E. Ruiz, M.D., Clinical Instructor, Saint Louis University School of Medicine, Pediatric Research Institute
Project Summary:
The goal of this study is to establish a neonatal screening protocol for Severe Combined Immunodeficiency Disorder (SCID) utilizing a two-tiered screening process involving the molecular quantitation of T cell re-arrangement circles (TREC) found in naive T lymphocytes combined with levels of Interleukin-7 (IL-7) from blood spot samples obtained from Guthrie Neonatal Screening cards. The neonatal screening protocol will be expanded to include the greater metropolitan St Louis area which covers both Missouri and Illinois and collaborators at Children's Hospital Little Rock, Arkansas and Children’s Hospital at Louisiana State University New Orleans, Louisiana.