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Report on Research on Rare Diseases in Children: FY 2000 to FY 2005

National Institute of Nursing Research (NINR)

Overview of NINR Rare Diseases in Children Research Activities, FY 2000–FY 2005

NINR supports and conducts research and research training on the biological and behavioral processes that underlie the promotion of health, amelioration of illness and its sequelae, and effective delivery of care. NINR's rare diseases research in children portfolio describes and develops strategies to control, manage, and prevent biobehavioral complications of conditions such as autism, childhood cancers, epilepsy, and cystic fibrosis (CF).

Recent Scientific Advances in Rare Diseases in Children Research

The research projects discussed below were funded in FY 2000 and will be funded through FY 2001.

Childhood Leukemia

Standard therapy for children diagnosed with acute lymphoblastic leukemia (ALL) is intrathecal and systemic chemotherapy. NINR-supported research is investigating how long-term chemotherapeutic toxicities to the central nervous system (CNS) can be ameliorated. A study reported in the Journal of Pediatric Psychology (Moore, et al., 2001) determined whether prophylactic CNS chemotherapy for childhood ALL was associated with declines in neuropsychological abilities. Growth curve analysis was used to examine neuropsychological outcome and treatment-related change in children who were treated at two childhood cancer centers. A comprehensive test battery was administered at baseline (eight months) and at two, three, and four years post-diagnosis. Results indicated modest declines in arithmetic, visual motor integration, and verbal fluency. Intrathecal and systemic treatment was related to poorer visual motor integration at four years post-diagnosis and a faster rate of decline in visual motor integration skills than intrathecal treatment alone. Arithmetic proficiency at four years post-diagnosis was related to maternal education, but the rate of decline was not. Verbal fluency was unrelated to demographic or treatment variables. These findings suggest that neuropsychological outcome and declines are related to both demographic and treatment characteristics, depending on the cognitive domain examined. The investigator is currently addressing the cognitive and academic sequelae associated with CNS treatment in the first randomized intervention trial designed to prevent or minimize math deficits in children receiving treatment for ALL.

Another NINR-funded investigator is determining ways to lessen the adverse effects of adding dexamethasone to ALL therapy. Mounting evidence indicates that adding dexamethasone to the therapy for children and adolescents with ALL contributes to more positive long-term outcomes, such as lower rates of meningeal leukemia. However, the benefits are accompanied by adverse effects such as aberrant sleep and fatigue. The investigator is testing whether individualized dosing schedules based on patient sensitivity are effective in minimizing adverse effects while maintaining antileukemic effects. The goal of this study is to explicate the relationship between sleep efficiency and fatigue, and between sleep, fatigue, and systemic exposure to dexamethasone.


NINR researchers are identifying factors that predict child adaptation to epilepsy. Research published in The Journal of Neuroscience Nursing (Sawin, et al., 2001) reports findings on campers with epilepsy who were 8-16 years of age. The purpose of the study was to examine the effect of a camp experience on their attitudes toward epilepsy. Most health care providers report anecdotally that a camping experience helps children and adolescents with chronic health conditions to develop more positive attitudes toward their condition, although children's and adolescents' perceptions have rarely been studied systematically. Attitudes, measured by the 13-item Child Attitude Toward Illness Scale (CATIS), were assessed before and after the camp experience. No pretest or posttest difference in attitude toward epilepsy was found in the total group. When attitudes were examined by seizure frequency, however, there was a trend for those with more frequent seizures to report a more positive attitude after the camp experience. The conclusion of this pilot study was that families might consider a camp experience for a child challenged with seizures.

Cystic Fibrosis (CF)

Advances in biomedical sciences and technology have made longer life spans possible for children with CF. This new generation of adolescents and young adults with CF present new management challenges for health care providers. NINR researchers are testing the effectiveness of an intervention to improve the quality of life of children with CF (8-12 years) by teaching them life skills for managing the psychosocial demands of chronic illness that impact their ability to understand and manage the physiologic and functional demands of CF. A recent publication in the Journal of Pediatric Nursing (Christian et al., 2000) reported that knowledge of the progression of CF and increasing social interactions with peers with CF during hospitalization helped children with CF learn that the disease is lifelong with relentless demands. The research is continuing with interventions focusing on strategies to promote peer support, a positive attitude, and the hope to create a sense of belonging, social competence, and well-being.

Ongoing, New, and Planned Research Initiatives in Rare Diseases in Children

Ongoing Extramural Research


Autistic children and their families must cope with a chronic condition that is characterized by severe communication difficulties, social deficits, and aberrant behaviors. Interventions are needed to teach family members methods for promoting social interactions in these children. NINR is funding research that is specifically targeting fathers as the caretaker of autistic children. The objectives of the study are to describe the father-child reciprocity in the clinic and home setting, to compare and contrast father-child turn-taking with data obtained from mother-child turn-taking, and to evaluate the effect of an in-home training program on the acquisition of skills by fathers and the pre-communication skills by the children.

Family Experience of Genetic Testing

Current understanding of issues related to a genetic testing experience is based primarily on narrative accounts and clinical observations reflecting the perspective of health care professionals. Few studies have examined how individuals undergoing testing define and manage ethical issues during genetic testing. NINR is funding research to develop and test family-centered interventions for families who undergo genetic testing. Ethical issues that emerge during triple marker screening for Down syndrome and carrier testing for CF are being examined and are relevant to rare diseases research in children.

Workshops Related to Rare Diseases in Children

NINR received support from ORD to conduct a rare disease in children workshop for FY 2001 entitled, fiIncreasing the Number of Nurse Scientists in Cystic "brosis Research." The purpose of this workshop is to discuss ways to increase the pool of nurse scientists in this important area of rare disease research. Invited participants have expertise in numerous scientific disciplines such as nursing, medicine, immunology, exercise physiology, psychology, and nutrition. Topics to be addressed by the workgroup include identifying areas of interest to nurse researchers/clinicians in the field of CF, such as bio-behavioral symptom management of a chronic disease, self-esteem issues of teens and adolescents, novel dietary and exercise programs to ease progression of the disease, educational interventions for pharmacogenetic therapy, and caregiver issues. Research opportunities in the home care needs of CF patients and caregivers will also be discussed. This workshop will add to the body of knowledge for NINR in areas of management of symptoms for chronic disease, health disparities among at-risk populations, genetics, and respiratory care.


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Last Reviewed: May 15, 2003
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