ABSTRACT
OBJECTIVE: To evaluate the impact of sodium benzoate and dextromethorphan treatment on patients with the attenuated form of nonketotic hyperglycinemia. STUDY DESIGN: Families were recruited with 2 siblings both affected with attenuated nonketotic hyperglycinemia. Genetic mutations were expressed to identify residual activity. The outcome on developmental progress and seizures was compared between the first child diagnosed and treated late with the second child diagnosed at birth and treated aggressively from the newborn period using dextromethorphan and benzoate at dosing sufficient to normalize plasma glycine levels. Both siblings were evaluated with similar standardized neurodevelopmental measures. RESULTS: In each sibling set, the second sibling treated from the neonatal period achieved earlier and more developmental milestones, and had a higher developmental quotient. In 3 of the 4 sibling pairs, the younger sibling had no seizures whereas the first child had a seizure disorder. The adaptive behavior subdomains of socialization and daily living skills improved more than motor skills and communication. CONCLUSIONS: Early treatment with dextromethorphan and sodium benzoate sufficient to normalize plasma glycine levels is effective at improving outcome if used in children with attenuated disease with mutations providing residual activity and when started from the neonatal period.
Subject(s)
Child Development , Dextromethorphan/therapeutic use , Excitatory Amino Acid Antagonists/therapeutic use , Hyperglycinemia, Nonketotic/drug therapy , Siblings , Sodium Benzoate/therapeutic use , Time-to-Treatment , Child , Child, Preschool , Colorado , Delayed Diagnosis , Early Diagnosis , Epilepsy/etiology , Female , Humans , Hyperglycinemia, Nonketotic/diagnosis , Hyperglycinemia, Nonketotic/genetics , Infant , Infant, Newborn , Intelligence Tests , Male , Neuropsychological TestsABSTRACT
INTRODUCTION: To increase students' understanding of what it means to be a physician and engage in the everyday practice of medicine, a humanities program was implemented into the preclinical curriculum of the medical school curriculum. The purpose of our study was to determine how medical students' views of being a doctor evolved after participating in a required humanities course. METHODS: Medical students completing a 16-clock hour humanities course from 10 courses were asked to respond to an open-ended reflection question regarding changes, if any, of their views of being a doctor. The constant comparative method was used for coding; triangulation and a variety of techniques were used to provide evidence of validity of the analysis. RESULTS: A majority of first- and second-year medical students (rr = 70%) replied, resulting in 100 pages of text. A meta-theme of Contextualizing the Purpose of Medicine and three subthemes: the importance of Treating Patients Rather than a Disease, Understanding Observation Skills are Important, and Recognizing that Doctors are Fallible emerged from the data. CONCLUSIONS: Results suggest that requiring humanities as part of the required preclinical curriculum can have a positive influence on medical students and act as a bridge to contextualize the purpose of medicine.
Subject(s)
Attitude of Health Personnel , Humanities/education , Physician's Role , Schools, Medical/organization & administration , Students, Medical/psychology , Curriculum , Humans , Physician-Patient RelationsABSTRACT
PURPOSE: To determine adherence to the American Academy of Pediatrics guidelines for thyroid screening in children with Down syndrome among primary care providers in the states of Oklahoma and Nebraska. METHODS: We sought to identify all children with Down syndrome born in Oklahoma and Nebraska between 1994 and 2004 and review their medical records for evidence of thyroid screening. Patients were identified through a State Department of Health birth defects registry in Oklahoma and through participation in genetics clinics and laboratories in Nebraska and Oklahoma. Charts obtained from primary care providers were reviewed and the number of actual thyroid screens was compared with the number of recommended screens for each individual during the study period. RESULTS: In Oklahoma, 13% of participating children received all thyroid screens recommended in the guidelines. In Nebraska, 14% of children received all recommended thyroid screenings. Among participants in Oklahoma, a mean of 34% of recommended thyroid screenings were performed. In Nebraska, a mean of 45% of recommended thyroid screenings were performed. CONCLUSIONS: The level of adherence to the American Academy of Pediatrics guidelines for thyroid screening in children with Down syndrome is low. Factors contributing to this low level of adherence need to be identified and addressed.
