Defining Natural History: Assessment of the Ability of College Students to Aid in Characterizing Clinical Progression of Niemann-Pick Disease, Type C

Niemann-Pick Disease, type C (NPC) is a fatal, neurodegenerative, lysosomal storage disorder. It is a rare disease with broad phenotypic spectrum and variable age of onset. These issues make it difficult to develop a universally accepted clinical outcome measure to assess urgently needed therapies. To this end, clinical investigators have defined emerging, disease severity scales. The average time from initial symptom to diagnosis is approximately 4 years. Further, some patients may not travel to specialized clinical centers even after diagnosis. We were therefore interested in investigating whether appropriately trained, community-based assessment of patient records could assist in defining disease progression using clinical severity scores. In this study we evolved a secure, step wise process to show that pre-existing medical records may be correctly assessed by non-clinical practitioners trained to quantify disease progression. Sixty-four undergraduate students at the University of Notre Dame were expertly trained in clinical disease assessment and recognition of major and minor symptoms of NPC. Seven clinical records, randomly selected from a total of thirty seven used to establish a leading clinical severity scale, were correctly assessed to show expected characteristics of linear disease progression. Student assessment of two new records donated by NPC families to our study also revealed linear progression of disease, but both showed accelerated disease progression, relative to the current severity scale, especially at the later stages. Together, these data suggest that college students may be trained in assessment of patient records, and thus provide insight into the natural history of a disease

Psychological aspects of traumatic injury in children and adolescents.

Each year millions of children are exposed to some form of extreme traumatic stressor. These traumatic events include natural disasters (e.g., tornadoes, floods, hurricanes), motor vehicle accidents, life-threatening illnesses and associated painful medical procedures (e.g., severe burns, cancer, limb amputations), physical abuse, sexual assault, witnessing domestic or community violence, kidnapping, and sudden death of a parent. During times of war, violent and nonviolent trauma (e.g., lack of fuel and food) may have terrible effects on children's adjustment. The events of September 11, 2001 and the unceasing suicidal attacks in the Middle East underscore the importance of understanding how children and adolescents react to disasters and terrorism. The body of literature related to children and their responses to disasters and trauma is growing. Mental health professionals are increasing their understanding about what factors are associated with increased risk (vulnerability) and affect how children cope with traumatic events. Researchers recognize that children's responses to major stress are similar to adults' (reexperiencing the event, avoidance, and arousal) and that these responses are not transient. A review of the literature indicates that PTSD is the most common psychiatric disorder after traumatic experiences, including physical injuries. There is also evidence for other comorbid conditions, including mood, anxiety, sleep, conduct, learning, and attention problems. In terms of providing treatment, CBT emerges as the best validated therapeutic approach for children and adolescents who experienced trauma-related symptoms, particularly symptoms associated with anxiety or mood disorders. The best approach to the injured child requires injury and pain assessment followed by specific interventions, such as pain management, brief consultation, and crisis intervention immediately after the specific traumatic event. Family support also may be necessary to help the family through this difficult period. The main conclusion that arises from the research on resilience in development is that extraordinary resilience and recovery power of children depend on basic human protective systems operating in their favor. This finding has produced a fundamental change in the framework for understanding and helping children at high risk or already in trouble. This shift is evident in a changing conceptualization of the goals of prevention and intervention that currently address competence and problems. Strategies for fostering resilience described in this article should be tested in future controlled psychotherapy trials to verify their efficacy on children's protective factors