Colleen Walsh Lang

A Pilot Study to Explore Knowledge, Attitudes, and Beliefs about Sickle Cell Trait and Disease

INTRODUCTION In the United States, newborn screening programs universally identify newborns with sickle cell disease (SCD) and heterozygote carriers (sickle cell trait [SCT]). Although there is a consensus to disclose SCT to parents, there are limited empirical data about whether and how this information is transmitted to the carrier children. METHODS In-person questionnaires were administered to parents with SCT and parents of a child with either SCD or SCT to examine the knowledge, attitudes, beliefs, and disclosure patterns about SCT of parents. RESULTS Fifty-three adults were interviewed, half (27) of whom had a child with SCD. There was significant misunderstanding about sickle cell inheritance (mean score, 68%), but parents who have a child with SCD have better knowledge compared to those without a child with SCD (78% vs 58%, p = .002). Respondents perceive minimal stigma associated with SCT. Unless there is an affected proband, individuals with SCT rarely receive counseling or education outside of the family. CONCLUSIONS There is significant misinformation about what it means to be a carrier and its health and reproductive implications. Formal professional counseling is rare, especially for those families without an affected proband. Strategies to increase the utilization of counseling and improve genetic literacy are necessary.

Ethics and professionalism in the pediatric curriculum: a survey of pediatric program directors.

OBJECTIVE: Since 1982, pediatric residency programs have been asked to evaluate trainees for ethical behavior. In 2007, the Accreditation Council for Graduate Medical Education required documenting teaching and evaluation of professionalism. Pediatric residency program directors were surveyed to ascertain what they know about the content and process of their ethics and professionalism curricula. METHODS: From February to May 2008, 394 program directors from the Association of Pediatric Program Directors were surveyed. RESULTS: Of 386 eligible survey respondents, 233 (60%) returned partial or complete surveys. Programs were evenly divided on whether ethics was taught as an organized curriculum or integrated. Professionalism was combined with the ethics curriculum in 27% of programs and taught independently in 38% of programs, but 35% had no professionalism curriculum. More than one third of the respondents did not answer each content and structure question. Approximately two thirds of those who responded stated that their program dedicated <10 hours per year to ethics and professionalism, respectively. Nearly three fourth of programs identified crowding of the curriculum and one third identified lack of faculty expertise as curricular constraints. Respondents expressed interest in more curricular materials from the American Board of Pediatrics or Association of Pediatric Program Directors. CONCLUSIONS: Despite requirements to train and evaluate residents in ethics and professionalism, there is a lack of structured curriculum, faculty expertise, and evaluation methodology. Effectiveness of training curricula and evaluation tools need to be assessed if the Accreditation Council for Graduate Medical Education requirements for competencies in these areas are to be meaningfully realized.

Maternal knowledge and attitudes about newborn screening for sickle cell disease and cystic fibrosis

Illinois introduced mandatory newborn screening (NBS) for sickle cell disease (SCD) in 1989 and for cystic fibrosis (CF) in 2008. We examined maternal understanding of NBS for SCD and CF, and their knowledge of the genetics, symptoms, and treatments of both conditions. Our methods consisted of conducting interviews of inpatient post‐partum women (>18 years and English speaking). Our results showed that of the 388 eligible participants, 34 self‐identified as sickle cell carriers, 1 with SCD and 1 as a CF carrier. Almost 3/4 were African American (282/387). Although all but 5 women had prenatal care, only 35% (133/378) recalled their prenatal care provider mentioning NBS, and only 56% (217/388) of participants recalled nursery staff mentioning NBS. There was more self‐reported familiarity with SCD (3.32/5) than CF (1.97/5, P < 0.001). Over 2/3 (260/388) of participants could not answer CF knowledge questions because they had never heard of CF. Among those who had heard of the conditions, mean knowledge scores were 66% for SCD (n = 372) and 63% for CF (n = 128). Bivariate analysis identified education, age, race, marital status, and insurance status as statistically significant. After linear regression education remained significant for both conditions. We conclude that in a sample of predominantly African American post‐partum women, we found poor understanding of NBS, greater familiarity with SCD, and significant knowledge gaps for both SCD and CF. There are many missed educational opportunities for educating parents about NBS and specific conditions included in NBS panels in both the obstetric clinics and the nursery.

Parental Understanding of Newborn Screening for Cystic Fibrosis After a Negative Sweat-Test

BACKGROUND: Newborn screening for cystic fibrosis (CF) in Illinois uses an immunoreactive trypsinogen/DNA methodology; most false-positive results identify unaffected carriers. METHODS: Parents whose child received a negative result from the sweat test after a positive newborn screening for CF were surveyed ≥6 weeks later by telephone. All parents received genetic counseling while waiting for the sweat-test results. RESULTS: A total of 90 parents participated. Overall knowledge of CF was high (78%), but the ability to understand the CF screening results was mixed. Although 94% of the parents understood that their child did not have CF, only 79% (62 of 78) of participants whose child had a mutation knew their child was definitely a carrier, and only 1 of 12 parents whose child had no mutation understood that the child may be a carrier. Respondents stated that most relatives were not interested in genetic testing. Both parents had been tested in only 13 couples. Fewer than half (36 of 77 [47%]) of the untested couples expressed interest in genetic testing. Although most participants were satisfied with the process, parents expressed frustration because of the lack of prospective newborn screening discussions by prenatal and pediatric providers and lack of knowledge and sensitivity by those who initially notified them of the abnormal newborn screening results. Speaking to a genetic counselor when scheduling the sweat test decreased anxiety for many parents (53 of 73 [73%] were “very worried” at notification versus 18 of 73 [25%] after scheduling; P < .001). CONCLUSIONS: Parental knowledge about CF is high, but confusion about the childs carrier status and the concept of residual risk persist despite genetic counseling. Relatives express low interest in carrier testing.

Warmth is analgesic in healthy newborns

TOC Summary Providing natural warmth to newborn infants during a painful procedure decreases crying and grimacing and ranks first compared to the standard treatments of sucrose or pacifier. ABSTRACT This study identifies a behavioral and nonpharmacologic means of preventing and reducing newborn pain. Our objective was to determine whether warmth is analgesic in newborn infants undergoing vaccination—a routine painful hospital procedure. We used a prospective randomized controlled trial of 47 healthy full‐term newborn infants. Infants were randomized into 1 of 3 conditions prior to vaccination: warmth exposure, pacifier suckling, or sucrose taste. Crying, grimacing, and heart rate differences were analyzed between groups before, during, and after vaccination as outcome measures. Warmer infants cried significantly less than sucrose taste or pacifier suckling after vaccination. Heart rate patterns reflected this analgesia. Core temperature did not differ between study groups. Providing natural warmth to newborn infants during a painful procedure decreases the crying and grimacing on par with the “gold” standard treatments of sucrose or pacifier.

When physicians forego the doctor–patient relationship, should they elect to self-prescribe or curbside? An empirical and ethical analysis

Background: The American Medical Association, the British Medical Association and the Canadian Medical Association have guidelines that specifically discourage physicians from self-prescribing or prescribing to family members, but only the BMA addresses informal prescription requests between colleagues. Objective: To examine the practices of paediatric providers regarding self-prescribing, curbsiding colleagues, and prescribing and refusing to prescribe to friends and family. Methods: 1086 paediatricians listed from the American Academy of Paediatrics 2007 web-based directory were surveyed. Results: 44% (430/982) of eligible survey respondents returned usable surveys. Almost half (198/407) of respondents had prescribed for themselves. An equal number (198/411) had informally requested a prescription from a colleague. Three-quarters (325/429) stated they had been asked to prescribe a prescription drug for a first-degree or second-degree relative, and 51% (186/363) had been asked by their spouse. Eighty-six per cent (343/397) stated that they had refused to write a prescription on at least one occasion for a friend or family member. The following reasons “strongly influenced” their decision to refuse a prescription request: (1) outside of provider’s expertise (88%); (2) patient’s need for his or her own physician (70%); (3) not medically indicated (69%); (4) need for a physical examination (65%). Conclusion: These data confirm that most physicians have engaged in self-prescribing or curbside requests for prescriptions. It can be argued that curbsiding is more morally problematic than self-prescribing because it implicates a third party, and should be discouraged regardless of whether the requester is a colleague, family member or friend.

Maternal Attitudes About Sickle Cell Trait Identification in Themselves and Their Infants

INTRODUCTION We examined knowledge and attitudes about sickle cell trait (SCT) and sickle cell disease (SCD) in women whose infants were identified with SCT through newborn screening. METHODS Mothers of infants identified with SCT by newborn screening were contacted 8 to 52 weeks post partum. Mothers were recruited if: (1) they participated in a postpartum newborn screening survey and agreed to be recontacted if their infant had a positive newborn screening result (n = 27); (2) they revealed that their child had SCT during participation in a similar study regarding newborn screening for cystic fibrosis (n = 2); or (3) their child attended a community health center and they did not refuse to be contacted for research (n = 71). RESULTS Ninety-five of 100 participants self-identified as black or African American. The average age was 26 +/- 6 years. Eight participants self-reported having SCD and 52 SCT, yet only 34 of the 60 (57%) had received professional hemoglobinopathy counseling. Fewer than half of respondents (45 of 100) knew their SCT status prior to their first pregnancy and less than one-fourth (23/100) reported prenatal discussions of newborn screening. Forty-one respondents were unaware that their child had SCT until notified by a study recruiter (mean age = 116 +/- 64 days). Overall mean knowledge score was high (71%; 95% CI, 69%-73%). Virtually all (> 93%) disclosed their childs SCT status to first-degree relatives and pediatricians but were more discriminating about disclosure to others. CONCLUSIONS Women are knowledgeable about SCT despite inadequate professional education and counseling. Research is necessary to reduce gaps in reporting maternal and infant SCT results and to understand and promote informed disclosure decisions.

Identifying Demographic, Social and Environmental Determinants of Treatment Failure among HIV-Infected Children in Uganda

Abstract Background Of the 1.8 million children (0–14 y.o.) living with HIV worldwide, over 80% live in sub-Saharan Africa. Children’s access to antiretroviral treatment (ART) remains low (est. 63% in east/central Africa), and even with access, long-term adherence is difficult. Uganda has been upheld as a model country for its response to HIV, and therefore offers an ideal place to assess children’s adherence. Objectives Identify early indicators of treatment failure for children on ART to facilitate health care worker intervention to improve adherence prior to clinical indicators of treatment failure. Methods Chart review of 188 case files of children living with HIV in Uganda; systematic univariate and multivariate analysis of demographic, social, and environmental variables which correlate with HIV treatment failure among reintegrated children; semi-structured interviews with staff, caregivers, and children about predictors of treatment failure. Results HIV-positive children present late to the program with a mean enrollment age of 9.7 years [n = 137]. Of the HIV-positive children enrolled in the program, one in five (20% [28/137]) had died and 10% [14/137] had rebounded to the center due to treatment failure. Of children who had begun attending school, 14% [13/95] had since dropped out of school. No statistically significant predictors of treatment failure were identified, primarily due to incomplete case files. However, program staff identified several factors not traditionally associated with treatment adherence, including home sanitation, personal hygiene, and children’s behavior (especially respect for adults). Conclusion Well-integrated comprehensive support structures to monitor home sanitation, personal hygiene, children’s behavior, and other factors not traditionally associated with adherance, have the potential to be early indicators of treatment failure. Disclosures All authors: No reported disclosures.