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Prevalence of disorders subject to newborn screening
October 2011 Volume 159 Number 4
Quality of life in transplant recipients —Thomas R. Welch, MD
Prevalence of disorders subject to newborn screening —Thomas R. Welch, MD
Special caloric requirements for children with severe combined immunodeficiency —Sarah S. Long, MD
Copyright ª 2011 by Mosby Inc.
F
or decades, our ‘‘success’’ in kidney transplantation has been measured by numbers (eg, 1- and 5-year patient survival, 1- and 5-year graft survival, blood pressure control, markers of cardiovascular morbidity). Lost in these numbers is the answer to a simple question: ‘‘How are these kids doing?’’ According to a study in the current issue of The Journal by Tong et al in Australia, the answer is ‘‘pretty darn good!’’ Recruiting from five major kidney transplant centers in the country, the authors used sophisticated quality of life measurement instruments that went far beyond simple questionnaires. Drawing from the toolbox of health economists, the investigators employed validated ‘‘utility-based’’ quality of life measures. In most of the domains measured, the children perceived themselves as having near perfect health. Many of them did, however, experience some emotional difficulties, including anxiety, which could be tied to concerns about the long-term function of their grafts. These data should reassure us that the investments in pediatric kidney transplantation appear to pay off for the recipients. Tong et al remind us that this group of children also would benefit from continuing psychosocial support. Article page 670<
O
ne of the major changes in newborn practice in the past several years has been the increase of disorders included in screening panels. This practice has been driven by multiple factors, including an increased recognition of disorders amenable to both early interventions and technology, such as tandem mass spectroscopy, which has made rapid, inexpensive screening feasible. One might reasonably ask if such expanded screening has impacted the reported birth prevalence of some conditions. There are suggestions that this is the case for congenital hypothyroidism. In the current issue of The Journal, Hertzberg et al at the Centers for Disease Control and Prevention examine this question for three disorders: phenylketonuria, congenital adrenal hyperplasia, and sickle hemoglobinopathies. These disorders have a high enough prevalence that the impact of changes in screening methodologies should be detectable. This study is a detailed state-by-state investigation, but the bottom line is that there was no evidence of a meaningful change in prevalence for any of these three disorders in the examined decade. Article page 555<
T
he study by Barron et al of patients with severe combined immunodeficiency (SCID) has immediate implication for clinical practice. Resting energy expenditure (REE) was measured by indirect calorimetry in 26 patients with SCID; 69% had hypermetabolism (REE >110% of predicted). Fourteen of 15 (93%) patients with failure to thrive (FTT) and 4 of 11 (35%) patients without FTT had hypermetabolism. As successful outcomes for patients with SCID have become a reality, recognition of their unique nutritional needs can lead to intensive support that will further optimize health. Article page 628<
A1
Quality of life in transplant recipients —Thomas R. Welch, MD
Prevalence of disorders subject to newborn screening —Thomas R. Welch, MD
Special caloric requirements for children with severe combined immunodeficiency —Sarah S. Long, MD
Copyright ª 2011 by Mosby Inc.
F
or decades, our ‘‘success’’ in kidney transplantation has been measured by numbers (eg, 1- and 5-year patient survival, 1- and 5-year graft survival, blood pressure control, markers of cardiovascular morbidity). Lost in these numbers is the answer to a simple question: ‘‘How are these kids doing?’’ According to a study in the current issue of The Journal by Tong et al in Australia, the answer is ‘‘pretty darn good!’’ Recruiting from five major kidney transplant centers in the country, the authors used sophisticated quality of life measurement instruments that went far beyond simple questionnaires. Drawing from the toolbox of health economists, the investigators employed validated ‘‘utility-based’’ quality of life measures. In most of the domains measured, the children perceived themselves as having near perfect health. Many of them did, however, experience some emotional difficulties, including anxiety, which could be tied to concerns about the long-term function of their grafts. These data should reassure us that the investments in pediatric kidney transplantation appear to pay off for the recipients. Tong et al remind us that this group of children also would benefit from continuing psychosocial support. Article page 670<
O
ne of the major changes in newborn practice in the past several years has been the increase of disorders included in screening panels. This practice has been driven by multiple factors, including an increased recognition of disorders amenable to both early interventions and technology, such as tandem mass spectroscopy, which has made rapid, inexpensive screening feasible. One might reasonably ask if such expanded screening has impacted the reported birth prevalence of some conditions. There are suggestions that this is the case for congenital hypothyroidism. In the current issue of The Journal, Hertzberg et al at the Centers for Disease Control and Prevention examine this question for three disorders: phenylketonuria, congenital adrenal hyperplasia, and sickle hemoglobinopathies. These disorders have a high enough prevalence that the impact of changes in screening methodologies should be detectable. This study is a detailed state-by-state investigation, but the bottom line is that there was no evidence of a meaningful change in prevalence for any of these three disorders in the examined decade. Article page 555<
T
he study by Barron et al of patients with severe combined immunodeficiency (SCID) has immediate implication for clinical practice. Resting energy expenditure (REE) was measured by indirect calorimetry in 26 patients with SCID; 69% had hypermetabolism (REE >110% of predicted). Fourteen of 15 (93%) patients with failure to thrive (FTT) and 4 of 11 (35%) patients without FTT had hypermetabolism. As successful outcomes for patients with SCID have become a reality, recognition of their unique nutritional needs can lead to intensive support that will further optimize health. Article page 628<
A1