Jane M. DeLuca

Prevalence of stimulant use for attentional dysfunction in children with phenylketonuria

Sumary: Recent data suggest that children with phenylketonuria (PKU) and poor metabolic control may have an increased prevalence of attentional dysfunction. However, few formal studies have addressed this topic in detail. We reviewed the medical records of 38 school-aged children with early and continuously treated PKU to determine the prevalence of stimulant use for attentional dysfunction, and to determine the relationship between metabolic control and attentional symptoms. Twenty-six per cent of the PKU children used a stimulant medication for attentional dysfunction. This is significantly higher than in an age- and sex-matched control group consisting of children with type I diabetes mellitus (6.5%, p<0.006), and also considerably higher than population norms for attention deficit hyperactivity disorder (ADHD) (5%). We also found a significant relationship between phenylalanine levels and stimulant use or attentional symptoms. Mean plasma phenylalanine concentration was 486 µmol/L in the non-stimulant-using group and 792 µmol/L in the stimulant-using group (p<0.02). Mean phenylalanine concentration was 462 µmol/L in the group not reporting attentional symptoms, and was 702 µmol/L in the symptomatic group (p<0.05). Parents of the stimulant-using children felt that the stimulants were efficacious in treating their childs attentional symptoms. Stimulant use and parent reports of attentional dysfunction are quite common in our PKU patients and appear to be strongly related to higher phenylalanine concentrations.

In search of compassion: a new taxonomy of compassionate physician behaviours

Compassion has been extolled as a virtue in the physician–patient relationship as a response to patient suffering. However, there are few studies that systematically document the behavioural features of physician compassion and the ways in which physicians communicate compassion to patients.

Internet use by parents of infants with positive newborn screens

BackgroundInternet searches on health topics are common, but not enough is known about online use during serious health concerns. The aim of this study was to investigate parents’ internet use and responses to online information following the referral of their newborn screen-positive infants.MethodsForty-four parents were interviewed about their internet use during their infants’ evaluations for a potential metabolic disorder. Responses to open-ended questions were audio taped and transcribed. Content analysis was used in analyzing the interview data.ResultsAn overwhelming majority of parents (89%) accessed the internet and most went online before meeting with genetic providers at metabolic treatment centers. Primary and genetic providers did not routinely recommend websites to parents. Online descriptions of metabolic disorders increased parents’ anxieties. Some parents allayed their distress by enlisting others to search and filter information for them and by seeking optimistic internet content about the disorders. Parents with fewer years of education were often baffled by complex disease information. Parents found limited information about treatments or what to expect during the clinical evaluations of their infants.ConclusionsThe internet is an integral part of health care and an important source of information for newborn screening parents. Parents may benefit from recommendations of credible websites and discussions of internet information with health care providers.

Implications of Newborn Screening for Nurses

PURPOSE Newborn screening has dramatically decreased the morbidity and mortality associated with a wide range of heritable conditions. Continuing advances in screening technology and improvements in the effectiveness of treatment are driving the rapid expansion of newborn screening programs. In this article, we review issues in newborn screening care and opportunities for nurses and nursing faculty to provide education and conduct research to improve the impact of newborn screening. ORGANIZING CONSTRUCT This article provides (a) an overview of current newborn screening activities, including how conditions are added to newborn screening panels and how implementation occurs at state and national levels; (b) a description of current controversies and ethical considerations; (c) a description of the roles of nurses in the newborn screening process; (d) suggestions for nursing education and research; and (e) a summary of expected future developments in newborn screening, including genome sequencing. CONCLUSIONS Nurses are uniquely well suited to address the educational needs and future research in newborn screening because of the role that nurses play in the provision of direct clinical care and in population-based healthcare delivery. CLINICAL RELEVANCE Newborn screening is a public health approach to the identification of rare but treatable conditions in early infancy. In the United States, as in other industrialized countries, newborn screening is rapidly expanding. Nurses, nurse educators, and nurse researchers are positioned to contribute to the field of newborn screening by assuring programs are implemented safely and effectively, by facilitating education of the nursing work force, and by developing and contributing to research programs in newborn screening.

Public Attitudes Toward Expanded Newborn Screening

Purpose: There is limited research available on public knowledge and understanding of expanded newborn screening (NBS). The aims of this study were to assess current public knowledge and understanding of newborn screening disorders and procedures, perceived education needs, and preferences for the delivery of NBS information and education. An additional aim was to develop a beginning understanding of public attitudes toward screening for complex, severe, and in some cases untreatable disorders. Design and Methods: In this preliminary descriptive study, eighty‐eight participants completed surveys querying their general knowledge of NBS, preferred means of receiving NBS information and education, and their opinions about screening for severe disorders such as lysosomal storage diseases (LSD). Results: Most study participants lacked general knowledge about current NBS practices, however, they supported expanding screening for severe and in some cases untreatable conditions. Most participants were enthusiastic about expanding NBS; however, those with more years of education were cautious regarding extensive costs of diagnosing and treating rare disorders. Conclusions: Newborn screening continues to evolve through new technological developments and the addition of more disorders to screening panels. More research of into public acceptance of newborn screening is needed. Addressing the educational needs of the public is important for improving their understanding of NBS and promoting patient‐centered care in the era of genomic screening. Practice Considerations: Enhanced educational efforts are necessary for improving public understanding of newborn screening. Highlights:In this preliminary investigation, participants indicated that they had incomplete knowledge and understanding about NBS.Participants with more education were cautious regarding costs for screening, diagnosing, and treating severe disorders.More emphasis and action on public education about NBS is needed given the increased complexities of NBS disorders.

Forecasting and Foretelling: Association Between Expected Survival Time and Characteristics of Prognosis Communication in Palliative Care Consultations (316-C)

Forecasting and Foretelling: Association Between Expected Survival Time and Characteristics of Prognosis Communication in Palliative Care Consultations (316-C) Robert Gramling, MD DSc, University of Rochester, Rochester, NY. Sally Norton, PhD RN FPCN, University of Rochester, Rochester, NY. Susan Ladwig, MPH, University of Rochester Medical Center, Rochester, NY. Maureen Metzger, RN MS, University of Rochester School of Nursing, Rochester, NY. Jane Deluca, PhD RN, University of Rochester, Rochester, NY. Ronald Epstein, MD, University of Rochester, Rochester, NY. Timothy Quill, MD, University of Rochester, Rochester, NY. Stewart Alexander, PhD, Duke University, Durham, NC. (All authors listed above for this session have disclosed no relevant financial relationships.)