Person: Waisbren, Susan
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Waisbren
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Susan
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Waisbren, Susan
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Publication Cognitive functioning in mild hyperphenylalaninemia(Elsevier, 2015) de la Parra, Alicia; García, María Ignacia; Waisbren, Susan; Cornejo, Verónica; Raimann, ErnaPublication Impact of false-positive newborn metabolic screening results on early health care utilization(Springer Nature, 2009) Lipstein, Ellen A; Perrin, James; Waisbren, Susan; Prosser, LisaPurpose: To analyze the association between false-positive newborn screening results and health care utilization. Methods: We surveyed parents regarding their children's health care utilization. Parents of children who received false-positive newborn screening results were primarily enrolled by a screening laboratory in Pennsylvania. Parents of children with normal results were recruited through the Massachusetts birth registry. We used bivariate tests and multivariate regression to assess the association between newborn screening results and primary care utilization, emergency room use, and hospitalization by age six months. Results: Our sample included 200 children with false-positive results and 137 with normal results. Variation in recruitment strategies led to sample children with false-positive results being more likely to be non-white, have unmarried parents and be of lower socioeconomic status. After adjusting for significant covariates, such as age, race and socioeconomic status, there were no significant associations between newborn screening results and child health care utilization. Conclusions: Despite the reported negative psychosocial effects of false-positive results, our study found no impact on early health care utilization. These results may assist in economic analyses of newborn screening as they suggest that medical costs associated with false-positive results are limited to the cost of diagnostic testing and follow-up.Publication In the Early Postpartum Period, Parents are Interested in Newborn Genomic Testing(2014) Waisbren, Susan; Back, Danielle; Liu, Christina; Kalia, Sarah S.; Ringer, Steven; Holm, Ingrid; Green, RobertPurpose We surveyed parents to ascertain interest in newborn genomic testing and determine whether these queries would provoke refusal of conventional newborn screening (NBS). Methods: After brief genetics orientation, parents rated their interest in receiving genomic testing for their healthy newborn on a 5-point Likert scale and answered questions about demographics and health history. We used logistic regression to explore factors associated with interest in genomic testing and tracked any subsequent rejection of NBS. Results: We queried 514 parents within 48 hours after birth while still in the hospital (mean age (sd) 32.7 (6.4) years, 65.2% female, 61.2% white, 79.3% married). Parents reported being not at all (6.4%), a little (10.9%), somewhat (36.6%), very (28.0%) or extremely (18.1%) interested in genomic testing for their newborns. None refused conventional NBS. Married participants and those with health concerns about their infant were less interested in newborn genomic testing (p=0.012 and p=0.030, respectively). Mothers’ and fathers’ degree of interest was discordant (≥ 2 categories different) in 24.4% of couples. Conclusions: Interest in newborn genomic testing was high among parents of healthy newborns and the majority of couples had similar levels of interest. Surveying parents about genomic sequencing did not prompt rejection of NBS.Publication Treatment adherence during childhood in individuals with phenylketonuria: Early signs of treatment discontinuation(Elsevier, 2017) García, María Ignacia; Araya, Gabriela; Coo, Soledad; Waisbren, Susan; de la Parra, AliciaIntroduction: Phenylketonuria (PKU) is an autosomal recessive disorder characterized by a deficiency in phenylalanine (Phe) hydroxylase activity. Early diagnosis and continuous treatment with a low Phe diet prevents severe neurological and cognitive impairment. Aims 1. Analyze how treatment adherence evolves through infancy, childhood, and early adolescence in individuals with PKU. 2. Identify early signs of treatment discontinuation. Methodology This longitudinal, retrospective study included 75 children diagnosed through newborn screening, ages 7 to 13 years. Data on blood Phe concentration, number of blood samples sent, proportion of samples with Phe concentrations over the recommended range, and number of visits to the metabolism clinic were recorded. Logistic regression analysis was used to identify the variables that predict treatment discontinuation before 13 years of age. Results: A progressive increase in mean blood Phe concentrations with age was identified. The greatest increase occurred between the first and second years of life. By age ten, mean Phe blood concentration of the group was above the recommended range. The proportion of samples with Phe concentrations over the recommended range also increased with age, from an average of 13% during the first year of life to 67% in early adolescence. Sixty-eight percent of the children attended the outpatient clinic and sent samples from birth to the time of the study. Individuals who discontinued follow-up showed significantly higher mean blood Phe concentrations (360 vs. 220.9 μmol/L; p = 0.004) and the proportion of samples over the recommended range (37% vs. 12% p = 0.002) was significantly higher during the second year of life. Mean age for children who discontinued treatment was 5.5 years of age. Blood Phe concentration values at 12 to 23 months of age and at 6 to 8 years of age significantly predicted treatment discontinuation before 13 years of age. Conclusion: Treatment adherence in PKU diminishes with age. Early signs of treatment discontinuation can be identified during the second year of life, allowing preventive interventions in high risk groups.Publication International clinical guideline for the management of classical galactosemia: diagnosis, treatment, and follow-up(Springer Netherlands, 2016) Welling, Lindsey; Bernstein, Laurie E.; Berry, Gerard; Burlina, Alberto B.; Eyskens, François; Gautschi, Matthias; Grünewald, Stephanie; Gubbels, Cynthia; Knerr, Ina; Labrune, Philippe; van der Lee, Johanna H.; MacDonald, Anita; Murphy, Elaine; Portnoi, Pat A.; Õunap, Katrin; Potter, Nancy L.; Rubio-Gozalbo, M. Estela; Spencer, Jessica B.; Timmers, Inge; Treacy, Eileen P.; Van Calcar, Sandra C.; Waisbren, Susan; Bosch, Annet M.Classical galactosemia (CG) is an inborn error of galactose metabolism. Evidence-based guidelines for the treatment and follow-up of CG are currently lacking, and treatment and follow-up have been demonstrated to vary worldwide. To provide patients around the world the same state-of-the-art in care, members of The Galactosemia Network (GalNet) developed an evidence-based and internationally applicable guideline for the diagnosis, treatment, and follow-up of CG. The guideline was developed using the Grading of Recommendations Assessment, Development, and Evaluation (GRADE) system. A systematic review of the literature was performed, after key questions were formulated during an initial GalNet meeting. The first author and one of the working group experts conducted data-extraction. All experts were involved in data-extraction. Quality of the body of evidence was evaluated and recommendations were formulated. Whenever possible recommendations were evidence-based, if not they were based on expert opinion. Consensus was reached by multiple conference calls, consensus rounds via e-mail and a final consensus meeting. Recommendations addressing diagnosis, dietary treatment, biochemical monitoring, and follow-up of clinical complications were formulated. For all recommendations but one, full consensus was reached. A 93 % consensus was reached on the recommendation addressing age at start of bone density screening. During the development of this guideline, gaps of knowledge were identified in most fields of interest, foremost in the fields of treatment and follow-up. Electronic supplementary material The online version of this article (doi:10.1007/s10545-016-9990-5) contains supplementary material, which is available to authorized users.Publication Psychosocial Developmental Milestones in Men With Classic Galactosemia(Springer Netherlands, 2011) Gubbels, Cynthia Sophia; Maurice-Stam, Heleen; Berry, Gerard; Bosch, Annet Maria; Waisbren, Susan; Rubio-Gozalbo, Maria Estela; Grootenhuis, Martha AlexandraPatients with classic galactosemia suffer from several long term effects of their disease. Research in a group of mainly female patients has shown that these patients may also have a developmental delay with regard to their social aptitude. To study if male galactosemia patients achieve psychosocial developmental milestones more slowly than male peers from the general Dutch population, we assessed their development with the Course of Life Questionnaire (CoLQ). A total of 18 male galactosemia patients participated in this study (response rate 69%): 11 Dutch patients and seven American patients. We found severe delays in the social and psychosexual scales of this questionnaire, but not on the autonomy axis. These results are comparable to an earlier study with a limited number of male patients. The observed delays could be secondary to less developed social skills, cognitive dysfunction, or disrupted language development. We strongly recommend screening of galactosemia patients for developmental delays, to ensure early intervention through social skills training.