Health services use by children identified as heterozygous hemoglobinopathy mutation carriers via newborn screening.

BACKGROUND: Newborn screening (NBS) for sickle cell disease incidentally identifies heterozygous carriers of hemoglobinopathy mutations. In Ontario, Canada, these carrier results are not routinely disclosed, presenting an opportunity to investigate the potential health implications of carrier status. We aimed to compare rates of health services use among children identified as carriers of hemoglobinopathy mutations and those who received negative NBS results. METHODS: Eligible children underwent NBS in Ontario from October 2006 to March 2010 and were identified as carriers or as screen-negative controls, matched to carriers 5:1 based on neighbourhood and timing of birth. We used health care administrative data to determine frequencies of inpatient hospitalizations, emergency department (ED) visits, and physician encounters through March 2012, using multivariable negative binomial regression to compare rates of service use in the two cohorts. We analyzed data from 4987 carriers and 24,935 controls. RESULTS: Adjusted incidence rate ratios (95% CI) for service use in carriers versus controls among children < 1 year of age were: 1.11 (1.06-1.17) for ED visits; 0.97 (0.89-1.06) for inpatient hospitalization; and 1.02 (1.00-1.04) for physician encounters. Among children ≥1 year of age, adjusted rate ratios were: 1.03 (0.98-1.07) for ED visits; 1.14 (1.03-1.25) for inpatient hospitalization and 0.92 (0.90-0.94) for physician encounters. CONCLUSIONS: While we identified statistically significant differences in health services use among carriers of hemoglobinopathy mutations relative to controls, effect sizes were small and directions of association inconsistent across age groups and health service types. Our findings are consistent with the assumption that carrier status is likely benign in early childhood.

Primary care providers' role in newborn screening result notification for cystic fibrosis.

OBJECTIVE: To explore primary care providers' (PCPs') role in result notification for newborn screening (NBS) for cystic fibrosis (CF), given that expanded NBS has increased the number of positive screening test results, drawing attention to the role of PCPs in supporting families. DESIGN: Cross-sectional survey and qualitative interviews. SETTING: Ontario. PARTICIPANTS: Primary care providers (FPs, pediatricians, and midwives) who received a positive CF NBS result for an infant in their practice in the 6 months before the study. MAIN OUTCOME MEASURES: Whether the PCP notified the family of the initial positive CF screening result. RESULTS: Data from 321 PCP surveys (response rate of 51%) are reported, including 208 FPs, 68 pediatricians, and 45 midwives. Interviews were completed with 34 PCPs. Most (65%) surveyed PCPs reported notifying the infant's family of the initial positive screening result; 81% agreed that they have an important role to play in NBS; and 88% said it was important for PCPs, rather than the NBS centre, to notify families of initial positive results. With support and information from NBS centres, 68% would be extremely or very confident in doing so; this dropped to 54% when reflecting on their recent reporting experience. More than half (58%) of all PCPs said written point-of-care information from the NBS centre was the most helpful format. Adjusted for relevant factors, written educational information was associated with a lower rate of notifying families than written plus verbal information (risk ratio of 0.79; 95% CI 0.69 to 0.92). In the interviews, PCPs emphasized the challenge of balancing required content knowledge with the desire for the news to come from a familiar provider. CONCLUSION: Most PCPs notify families of NBS results and value this role. These data are relevant as NBS programs and other genomic services expand and consider ways of keeping PCPs confident and actively involved.

Newborn screening for cystic fibrosis: Role of primary care providers in caring for infants with positive screening results.

OBJECTIVE: To explore primary care providers' (PCPs') preferred roles and confidence in caring for infants receiving a positive cystic fibrosis (CF) newborn screening (NBS) result, as well as management of CF family planning issues, given that expanded NBS has resulted in an increase in positive results. DESIGN: Mailed questionnaire. SETTING: Ontario. PARTICIPANTS: Ontario FPs, pediatricians, and midwives identified by Newborn Screening Ontario as having had an infant with a positive CF NBS result in their practice in the previous 6 months. MAIN OUTCOME MEASURE: Primary care providers' preferred roles in providing well-baby care for infants with positive CF screening results. RESULTS: Overall, 321 of 628 (51%) completed surveys (208 FPs, 68 pediatricians, 45 midwives). For well-baby care for infants confirmed to have CF, 77% of PCPs indicated they would not provide total care (ie, 68% would share care with other specialists and 9% would refer to specialists completely); for infants with an inconclusive CF diagnosis, 50% of PCPs would provide total care, 45% would provide shared care, and 5% would refer to a specialist; for CF carriers, 89% of PCPs would provide total care, 9% would provide shared care, and 2% would refer. Half (54%) of PCPs were extremely or very confident in providing reassurance about CF carriers' health. Only 25% knew how to order parents' CF carrier testing; 67% knew how to refer for prenatal diagnosis. Confidence in reassuring parents about the health of CF carrier children was associated with providing total well-baby care for CF carriers (risk ratio of 1.50; 95% CI 1.14 to 1.97) and infants with an inconclusive diagnosis (risk ratio of 3.30; 95% CI 1.34 to 8.16). CONCLUSION: Most PCPs indicated willingness to treat infants with a range of CF NBS results in some capacity. It is concerning that some indicated CF carriers should have specialist involvement and only half were extremely or very confident about reassuring families about carrier status. This raises issues about possible medicalization of those with carrier status, prompting the need for PCP education about genetic disorders and the meaning of genetic test results.

R(J/ψ) and B_{c}

We use our lattice QCD computation of the B_{c}→J/ψ form factors to determine the differential decay rate for the semitauonic decay channel and construct the ratio of branching fractions R(J/ψ)=B(B_{c}^{-}→J/ψτ^{-}ν[over ¯]_{τ})/B(B_{c}^{-}→J/ψµ^{-}ν[over ¯]_{µ}). We find R(J/ψ)=0.2582(38) and give an error budget. We also extend the relevant angular observables, which were recently suggested for the study of lepton flavor universality violating effects in B→D^{*}ℓν, to B_{c}→J/ψℓν and make predictions for their values under different new physics scenarios.

Lattice QCD Matrix Elements for the B_{s}

Predicting the B_{s}^{0}-B[over ¯]_{s}^{0} width difference ΔΓ_{s} relies on the heavy quark expansion and on hadronic matrix elements of ΔB=2 operators. We present the first lattice QCD results for matrix elements of the dimension-7 operators R_{2,3} and linear combinations R[over ˜]_{2,3} using nonrelativistic QCD for the bottom quark and a highly improved staggered quark (HISQ) action for the strange quark. Computations use MILC Collaboration ensembles of gauge field configurations with 2+1+1 flavors of sea quarks with the HISQ discretization, including lattices with physically light up or down quark masses. We discuss features unique to calculating matrix elements of these operators and analyze uncertainties from series truncation, discretization, and quark mass dependence. Finally we report the first standard model determination of ΔΓ_{s} using lattice QCD results for all hadronic matrix elements through O(1/m_{b}). The main result of our calculations yields the 1/m_{b} contribution ΔΓ_{1/m_{b}}=-0.022(10) ps^{-1}. Adding this to the leading order contribution, the standard model prediction is ΔΓ_{s}=0.092(14) ps^{-1}.

Managing Paediatric Growth Disorders: Integrating Technology Into a Personalised Approach

Long-term growth management can be challenging for patients, families and healthcare professionals (HCP). Personalised optimal responses to growth hormone (GH) therapy depend on the creation of a good working relationship between the patient and family and the HCPs responsible for care. Current unmet needs in growth management will be discussed, focusing on the likelihood of a poor growth response and its identification and management with emphasis on the importance of good adherence to GH therapy. Digital tools are now available to record injections and communicate accurate adherence data to the HCP and patient. Psychological barriers to good adherence will be covered, with techniques identified to change behaviour and improve outcome. Motivational interviewing is a valuable skill in this respect and should be taught to both medical and nursing HCPs to enhance the quality of the relationship with the patient and family. Key messages are, firstly, the importance of personalised care with the HCP using acquired psychological skills to prevent and manage poor adherence. Secondly, a human-eHealth partnership is necessary to maximise the benefit of new digital tools to aid in successful growth management.

Mathematics Self-Concept in New Zealand Elementary School Students: Evaluating Age-Related Decline.

The underrepresentation of females in mathematics-related fields may be explained by gender differences in mathematics self-concept (rather than ability) favoring males. Mathematics self-concept typically declines with student age, differs with student ethnicity, and is sensitive to teacher influence in early schooling. We investigated whether change in mathematics self-concept occurred within the context of a longitudinal intervention to raise and sustain teacher expectations of student achievement. This experimental study was conducted with a large sample of New Zealand primary school students and their teachers. Data were analyzed using longitudinal multilevel modeling with mathematics self-concept as the dependent variable and time (which represents students' increasing age each year), gender, and ethnicity entered as predictors and achievement in mathematics included as a control variable. Interaction terms were also explored to investigate changes over time for different groups. All students demonstrated a small increase in mathematics self-concept over the 3-year period of the current study but mathematics self-concept was consistently greater for boys than girls. Maori, Asian, and Other students' initial mathematics self-concept was higher than that of New Zealand European and Pacific Islanders' (after controlling for achievement differences). However, a statistically significant decline in mathematics self-concept occurred for Maori students alone by the end of the study. The expected age-related reduction over time in student mathematics self-concept appeared to be mitigated in association with the longitudinal study. Nevertheless, the demonstration of a comparatively lower mathematics self-concept remained for girls overall and declined for Maori. Our results reinforce implications for future research into mathematics self-concept as a possible determinant of female student career choices.

The interpersonal character of teacher expectations: The perceived teacher-student relationship as an antecedent of teachers' track recommendations.

Teacher expectations of students have long been recognized as a form of interpersonal expectations. In this study, we aimed to investigate the interpersonal character of teacher expectations by assessing 1) whether teacher expectations and the teacher-student relationship shared similar antecedents in terms of demographic characteristics of students, and 2) whether the dimensions closeness, conflict, and dependency of the teacher-student relationship were predictive of teacher expectations. Analyses were based on a large sample of 9881 students in 614 classes in the final grade of primary education. The results indicated that teacher expectations - as measured by track recommendations - and the teacher-student relationship were not consistent in antecedents. Student performance, parental education, and closeness were positive predictors of track recommendations, whereas they were negatively associated with conflict and dependency. Ethnicity was positively associated with track recommendations, but negatively with closeness. Furthermore, perceived closeness and conflict were not statistically significantly associated with track recommendations. A negative association was found for perceived dependency with teachers' track recommendations, although the latter association appeared stronger for high performing students. Finally, the results showed that teachers differed in how they weigh the conflict and dependency dimensions when formulating track recommendations, indicating that those teacher perceptions played a stronger role in some of the classes.

Health services use among children diagnosed with medium-chain acyl-CoA dehydrogenase deficiency through newborn screening: a cohort study in Ontario, Canada.

BACKGROUND: We describe early health services utilization for children diagnosed with medium-chain acyl-CoA dehydrogenase (MCAD) deficiency through newborn screening in Ontario, Canada, relative to a screen negative comparison cohort. METHODS: Eligible children were identified via newborn screening between April 1, 2006 and March 31, 2010. Age-stratified rates of physician encounters, emergency department (ED) visits and inpatient hospitalizations to March 31, 2012 were compared using incidence rate ratios (IRR) and incidence rate differences (IRD). We used negative binomial regression to adjust IRRs for sex, gestational age, birth weight, socioeconomic status and rural/urban residence. RESULTS: Throughout the first few years of life, children with MCAD deficiency (n = 40) experienced statistically significantly higher rates of physician encounters, ED visits, and hospital stays compared with the screen negative cohort. The highest rates of ED visits and hospitalizations in the MCAD deficiency cohort occurred from 6 months to 2 years of age (ED use: 2.1-2.5 visits per child per year; hospitalization: 0.5-0.6 visits per child per year), after which rates gradually declined. CONCLUSIONS: This study confirms that young children with MCAD deficiency use health services more frequently than the general population throughout the first few years of life. Rates of service use in this population gradually diminish after 24 months of age.

The impact of patient choice on survival in chronic thromboembolic pulmonary hypertension.

Pulmonary endarterectomy (PEA) is the gold standard treatment for operable chronic thromboembolic pulmonary hypertension (CTEPH). However, a proportion of patients with operable disease decline surgery. There are currently no published data on this patient group. The aim of this study was to identify outcomes and prognostic factors in a large cohort of consecutive patients with CTEPH.Data were collected for consecutive, treatment-naive CTEPH patients at the Pulmonary Vascular Disease Unit of the Royal Hallamshire Hospital (Sheffield, UK) between 2001 and 2014.Of 550 CTEPH patients (mean±sd age 63±15 years, follow-up 4±3 years), 49% underwent surgery, 32% had technically operable disease and did not undergo surgery (including patient choice n=72 and unfit for surgery n=63), and 19% had inoperable disease due to disease distribution. The 5-year survival was superior in patients undergoing PEA (83%) versus technically operable disease who did not undergo surgery (53%) and inoperable due to disease distribution (59%) (p<0.001). Survival was superior in patients following PEA compared with those offered but declining surgery (55%) (p<0.001). In patients offered PEA, independent prognostic factors included mixed venous oxygen saturation, gas transfer and patient decision to proceed to surgery.Outcomes in CTEPH following PEA are excellent and superior to patients declining surgery, and strongly favour consideration of a surgical intervention in eligible patients.

A novel method for quantitation of acylglycines in human dried blood spots by UPLC-tandem mass spectrometry.

BACKGROUND: Several acylcarnitines used as primary markers on dried blood filter papers (DBS) for newborn screening lack specificity and contribute to a higher false positive rate. The analysis of urine acylglycines is useful in the diagnosis of inborn errors of metabolism (IEM) including medium chain acyl-CoA dehydrogenase deficiency (MCADD), isovaleric acidemia, and beta-ketothiolase deficiency (BKTD). Currently, no method for analyzing acylglycines from DBS has been published. METHODS: Acylglycines were extracted from two 3.2 mm DBS punches and butylated using Butanol-HCl. Ultra Performance Liquid Chromatography (UPLC-MS/MS) with run time of 10 min permits resolution and quantitation of 15 acylglycines; including several isobaric. Method development was completed. Reference intervals (n = 573) were established for four birth weight groups. Furthermore, samples from patients with a confirmed IEM (n = 11), and false positive screens (n = 78) were analyzed to validate the interpretation obtained from the newly established reference intervals. RESULTS: Calibration curves were linear from 0.005 to 25.0 µM. Ion suppression was evaluated as minimal (2 to 10%). Samples from known patients were used to validate the reference intervals. For C5OH-related disorders, tiglylglycine (TG), TG/acetylglycine (AG) ratio, 3methylcrotonylglycine (3MCG) and 3MCG/AG ratio increased specificity. Propionylglycine (PG) and PG/acetylglycine ratio were two discriminatory markers in the investigation of C3-related disorders. Hexanoylglycine (HG), octanoylglycine (OG), suberylglycine (SG), and the ratios HG/AG, OC/AG and SG/AG were excellent markers of MCADD deficiency. CONCLUSION: This method shows potential application as a second tier screen in order to reduce the false positive rate for a number of IEM targeted by newborn screening.

False-Positive Newborn Screening for Cystic Fibrosis and Health Care Use.

OBJECTIVES: Evidence is mixed regarding the impact of false-positive (FP) newborn bloodspot screening (NBS) results on health care use. Using cystic fibrosis (CF) as an example, we determined the association of FP NBS results with health care use in infants and their mothers in Ontario, Canada. METHODS: We conducted a population-based cohort study of all infants with FP CF results (N = 1564) and screen-negative matched controls (N = 6256) born between April 2008 and November 2012 using linked health administrative data. Outcomes included maternal and infant physician and emergency visits and inpatient hospitalizations from the infant's third to 15th month of age. Negative binomial regression tested associations of NBS status with outcomes, adjusting for infant and maternal characteristics. RESULTS: A greater proportion of infants with FP results had >2 outpatient visits (16.2% vs 13.2%) and >2 hospital admissions (1.5% vs 0.7%) compared with controls; CF-related admissions and emergency department visits were not different from controls. Differences persisted after adjustment, with higher rates of outpatient visits (relative risk 1.39; 95% confidence interval 1.20-1.60) and hospital admissions (relative risk 1.67; 95% confidence interval 1.21-2.31) for FP infants. Stratified models indicated the effect of FP status was greater among those whose primary care provider was a pediatrician. No differences in health care use among mothers were detected. CONCLUSIONS: Higher use of outpatient services among FP infants may relate to a lengthy confirmatory testing process or follow-up carrier testing. However, increased rates of hospitalization might signal heightened perceptions of vulnerability among healthy infants.

Psychosocial Response to Uncertain Newborn Screening Results for Cystic Fibrosis.

OBJECTIVE: To explore the psychosocial implications of diagnostic uncertainty that result from inconclusive results generated by newborn bloodspot screening (NBS) for cystic fibrosis (CF). STUDY DESIGN: Using a mixed methods prospective cohort study of children who received NBS for CF, we compared psychosocial outcomes of parents whose children who received persistently inconclusive results with those whose children received true positive or screen-negative results. RESULTS: Mothers of infants who received inconclusive results (n = 17), diagnoses of CF (n = 15), and screen-negative results (n = 411) were surveyed; 23 parent interviews were completed. Compared with mothers of infants with true positive/screen-negative results, mothers of infants with inconclusive results reported greater perceived uncertainty (P < .006) but no differences in anxiety or vulnerability (P > .05). Qualitatively, parents valued being connected to experts but struggled with the meaning of an uncertain diagnosis, worried about their infant's health-related vulnerability, and had mixed views about surveillance. CONCLUSION: Inconclusive CF NBS results were not associated with anxiety or vulnerability but led to health-related uncertainty and qualitative concerns. Findings should be considered alongside efforts to optimize protocols for CF screening and surveillance. Educational and psychosocial supports are warranted for these families.

A secondary benefit: the reproductive impact of carrier results from newborn screening for cystic fibrosis.

PURPOSE: Newborn screening (NBS) for cystic fibrosis (CF) can identify carriers, which is considered a benefit that enables reproductive planning. We examined the reproductive impact of carrier result disclosure of NBS for CF. METHODS: We surveyed mothers of carrier infants after NBS (Time 1) and 1 year later (Time 2) to ascertain intended and reported communication of their infants' carrier results to relatives, carrier testing for themselves/other children, and reproductive decisions. A sub-sample of mothers was also interviewed at Time 1 and Time 2. RESULTS: The response rate was 54%. A little more than half (55%) of mothers underwent carrier testing at Time 1; another 40% of those who intended to undergo testing at Time 1 underwent testing at Time 2. Carrier result communication to relatives was high (92%), but a majority of participants did not expect the results to influence family planning (65%). All interviewed mothers valued learning their infants' carrier results. Some underwent carrier testing and then shared results with family. Others did not use the results or used them in unintended ways. CONCLUSION: Although mothers valued learning carrier results from NBS, they reported moderate uptake of carrier testing and limited influence on family planning. Our study highlights the secondary nature of the benefit of disclosing carrier results of NBS.Genet Med 19 4, 403-411.

Parent Experience With False-Positive Newborn Screening Results for Cystic Fibrosis.

BACKGROUND: The risk of psychosocial harm in families of infants with false-positive (FP) newborn bloodspot screening (NBS) results for cystic fibrosis (CF) is a longstanding concern. Whether well designed retrieval and confirmatory testing systems can mitigate risks remains unknown. METHODS: Using a mixed-methods cohort design, we obtained prospective self-report data from mothers of infants with FP CF NBS results 2 to 3 months after confirmatory testing at Ontario's largest follow-up center, and from a randomly selected control sample of mothers of screen negative infants from the same region. Mothers completed a questionnaire assessing experience and psychosocial response. A sample of mothers of FP infants completed qualitative interviews. RESULTS: One hundred thirty-four mothers of FP infants (response rate, 55%) and 411 controls (response rate, 47%) completed questionnaires; 54 mothers of FP infants were interviewed. Selected psychosocial response measures did not detect psychosocial distress in newborns or 1 year later (P > .05). Mothers recalled distress during notification of the positive result and in the follow-up testing period related to fear of chronic illness, but valued the screening system of care in mitigating concerns. CONCLUSIONS: Although immediate distress was reported among mothers of FP infants, selected psychometric tools did not detect these concerns. The NBS center from which mothers were recruited minimizes delay between notification and confirmatory testing and ensures trained professionals are communicating results and facilitating follow-up. These factors may explain the presence of minimal psychosocial burden. The screening system reflected herein may be a model for NBS programs working to minimize FP-related psychosocial harm.

The role of mental illness on cigarette dependence and successful quitting in a nationally representative, household-based sample of U.S. adults.

PURPOSE: To begin to explore whether the association between mental illness (MI), cigarette dependence, and unsuccessful quit attempts differs across particular demographic subgroups. METHODS: This study examines data from adults aged 18 years or older participating in the 2008-2012 National Surveys on Drug Use and Health. Analyses explored the moderating effects of age, gender, and race and/or ethnicity on associations between three levels of MI: (serious mental illness [SMI], any mental illness but no SMI, and no MI) and two smoking-related outcomes (cigarette dependence among current smokers and successful quitting among ever daily smokers). RESULTS: After confirming that adults with MI were more likely to be dependent on cigarettes and less likely to successfully quit smoking, particularly among those with SMI, adjusted analyses indicated that age (but not gender or race/ethnicity) moderated the associations between MI and cigarette dependence and between MI. CONCLUSIONS: The magnitude of the association between MI and cigarette dependence and between MI and successful quitting appears to be stronger among older adults than among younger adults. Identifying subgroups at particular high risk of cigarette dependence is paramount to targeting smoking prevention, cessation, and treatment services appropriately.

It's Time for the Genetic Counseling Profession to Embrace Social Media.

Social Media is a powerful and emerging method of communication that is becoming increasingly popular in genetic counseling and other health care communities. Despite its multiple benefits, the Social Media revolution has been met with some resistance in the healthcare setting. Herein, we will describe the potential benefits of Social Media for the genetic counseling profession specifically and explore ways in which any risks can be mitigated and barriers overcome to ensure responsible Social Media use by the profession.

Cultural invariance of goal orientation and self-efficacy in New Zealand: Relations with achievement.

BACKGROUND: There is substantial evidence indicating that various psychological processes are affected by cultural context, but such research is comparatively nascent within New Zealand. As there are four large cultural groups in New Zealand, representing an intersection of individualist, collectivist, indigenous, colonial, and immigrant cultures, New Zealand is an important context in which to investigate the role of culture in such processes. AIMS: This study investigated goal orientation and self-efficacy beliefs among students of different cultural backgrounds in New Zealand, associations between motivational beliefs and achievement, and whether any relations differed by cultural background. SAMPLE: Participants were 2,210 students attending three intermediate schools. METHODS: Participants responded to a questionnaire at the beginning of the school year to evaluate self-efficacy for mathematics and mastery and performance goal orientation. Participants also completed a standardized mathematics achievement test at the beginning and end of the year. RESULTS: The factor structure was sufficiently invariant by cultural group, but with statistically significant differences in average level of endorsement. Self-efficacy for mathematics predicted marginally higher end-of-year achievement after controlling for beginning-of-year achievement, with a stronger relationship for Maori and Pasifika, but no statistically significant relationship with achievement among Asian students. CONCLUSIONS: The questionnaire used was a valid instrument for the four main cultural groups in New Zealand. Differences were found in motivation levels, and Maori and Pasifika were more affected by their self-reported self-efficacy. Teachers may be able to raise students' self-beliefs by conveying high expectations for these students, potentially supporting higher academic outcomes.

The health system impact of false positive newborn screening results for medium-chain acyl-CoA dehydrogenase deficiency: a cohort study.

BACKGROUND: There is no consensus in the literature regarding the impact of false positive newborn screening results on early health care utilization patterns. We evaluated the impact of false positive newborn screening results for medium-chain acyl-CoA dehydrogenase deficiency (MCADD) in a cohort of Ontario infants. METHODS: The cohort included all children who received newborn screening in Ontario between April 1, 2006 and March 31, 2010. Newborn screening and diagnostic confirmation results were linked to province-wide health care administrative datasets covering physician visits, emergency department visits, and inpatient hospitalizations, to determine health service utilization from April 1, 2006 through March 31, 2012. Incidence rate ratios (IRRs) were used to compare those with false positive results for MCADD to those with negative newborn screening results, stratified by age at service use. RESULTS: We identified 43 infants with a false positive newborn screening result for MCADD during the study period. These infants experienced significantly higher rates of physician visits (IRR: 1.42) and hospitalizations (IRR: 2.32) in the first year of life relative to a screen negative cohort in adjusted analyses. Differences in health services use were not observed after the first year of life. CONCLUSIONS: The higher use of some health services among false positive infants during the first year of life may be explained by a psychosocial impact of false positive results on parental perceptions of infant health, and/or by differences in underlying health status. Understanding the impact of false positive newborn screening results can help to inform newborn screening programs in designing support and education for families. This is particularly important as additional disorders are added to expanded screening panels, yielding important clinical benefits for affected children but also a higher frequency of false positive findings.

Cardiorespiratory fitness is a stronger indicator of cardiometabolic risk factors and risk prediction than self-reported physical activity levels.

This study investigated the relationships of self-reported physical activity levels and cardiorespiratory fitness in 81 males to assess which measurement is the greatest indicator of cardiometabolic risk. Physical activity levels were determined by the General Practice Physical Activity Questionnaire tool and cardiorespiratory fitness assessed using the Chester Step Test. Cardiovascular disease risk was estimated using the QRISK2, Framingham Lipids, Framingham body mass index and Joint British Societies' Guidelines-2 equations, and type 2 diabetes mellitus risk calculated using QDiabetes, Leicester Risk Assessment, Finnish Diabetes Risk Score and Cambridge Risk Score models. Categorising employees by cardiorespiratory fitness categories ('Excellent/Good' vs 'Average/Below Average') identified more differences in cardiometabolic risk factor (body mass index, waist circumference, total cholesterol, total cholesterol:high-density lipoprotein ratio, high-density lipoprotein cholesterol, triglycerides, HbA(1c)) scores than physical activity (waist circumference only). Cardiorespiratory fitness levels also demonstrated differences in all four type 2 diabetes mellitus risk prediction models and both the QRISK2 and Joint British Societies' Guidelines-2 cardiovascular disease equations. Furthermore, significant negative correlations (p < 0.001) were observed between individual cardiorespiratory fitness values and estimated risk in all prediction models. In conclusion, from this preliminary observational study, cardiorespiratory fitness levels reveal a greater number of associations with markers of cardiovascular disease or type 2 diabetes mellitus compared to physical activity determined by the General Practice Physical Activity Questionnaire tool.