Improvements in health care for children with chronic diseases must be informed by research that emphasizes outcomes of importance to patients and families. To support a program of research in the field of rare inborn errors of metabolism (IEM), we conducted a broad scoping review of primary studies that: (i) focused on chronic pediatric diseases similar to IEM in etiology or manifestations and in complexity of management; (ii) reported patient- and/or family-oriented outcomes; and (iii) measured these outcomes using self-administered tools.We developed a comprehensive review protocol and implemented an electronic search strategy to identify relevant citations in Medline, EMBASE, DARE and Cochrane. Two reviewers applied pre-specified criteria to titles/abstracts using a liberal accelerated approach. Articles eligible for full-text review were screened by two independent reviewers with discrepancies resolved by consensus. One researcher abstracted data on study characteristics, patient- and family-oriented outcomes, and self-administered measures. Data were validated by a second researcher.4,118 citations were screened with 304 articles included. Across all included reports, the most-represented diseases were diabetes (35%), cerebral palsy (23%) and epilepsy (18%). We identified 43 unique patient- and family-oriented outcomes from among five emergent domains, with mental health outcomes appearing most frequently. The studies reported the use of 405 independent self-administered measures of these outcomes.Patient- and family-oriented research investigating chronic pediatric diseases emphasizes mental health and appears to be relatively well-developed in the diabetes literature. Future research can build on this foundation while identifying additional outcomes that are priorities for patients and families.
Abstract Severe vitamin D deficiency in mothers and their breastfed infants is a significant health problem in the Middle East. Supplementation of the breastfed infant alone with the recommended dose of vitamin D may be insufficient in high‐risk population. We investigated the effect of combined maternal and infant vitamin D supplementation on vitamin D status of the breastfed infant. We examined also the effect of supplementation on vitamin D antirachitic activity of breast milk in a subset of mothers. Healthy breastfeeding mothers ( n = 90) were randomly assigned to 2000 IU daily (group 1) or 60 000 IU monthly (group 2) of vitamin D 2 , and all their infants ( n = 92) received 400 IU daily of vitamin D 2 for 3 months. Most infants had vitamin D deficiency – 25‐hydroxyvitamin D [25(OH)D] ≤ 37.5 nmol L −1 – at study entry. Serum 25(OH)D concentrations at 3 months increased significantly from baseline in infants of mothers in group 1 (13.9 ± 8.6 vs. 49.6 ± 18.5 nmol L −1 , P < 0.0001) and group 2 (13.7 ± 12.1 vs. 44.6 ± 15.0 nmol L −1 , P < 0.0001). Maternal and infant serum 25(OH)D concentrations correlated positively at baseline ( r = 0.36, P = 0.01) and 3 months ( r = 0.46, P = 0.002). Milk antirachitic activity increased from undetectable (<20 IU L −1 ) to a median of 50.9 IU L −1 . In conclusion, combined maternal and infant vitamin D supplementation was associated with a threefold increase in infants’ serum 25(OH)D concentrations and a 64% reduction in the prevalence of vitamin D deficiency without causing hypervitaminosis D.
Prospective longitudinal study of vitamin D status and its risk factors in 75 pregnant women from early pregnancy until 6 months postpartum, by serial measurement of serum 25 (OH) vitamin D levels. The serum levels at booking were not significantly different between nationalities (p = 0.06), parity (p = 0.2), education levels (p = 0.4), dress code (p > 0.5), consumption of vitamin D fortified milk (p = 0.2) or, fatty fish (p = 0.5), sun-exposed body surface area (p = 0.3), weekly time exposed to the sun (p = 0.08) or the sun exposure index (p = 0.2). Vitamin D status progressively worsened as the proportion with adequate serum levels fell from 31% at the antenatal visit, to 23% after birth and 17%, 6 months later (p = 0.02). While 80% of mothers who were exclusively breast-feeding had low vitamin D levels 6 months after delivery, this occurred in only 67% of those partially breast-feeding (p = 0.6).
Both gestational diabetes mellitus (GDM) and thyroid dysfunction in pregnancy compromise maternal and fetal health. The aim of the present study was to determine the prevalence of abnormal thyroid function and antithyroid antibodies during early pregnancy in a population at high risk for GDM. Serum free triiodothyronine (FT3), free thyroxine (FT4) and thyroid-stimulating hormone (TSH) were measured in 301 pregnant women who underwent routine 'universal screening' for GDM. The antithyroid peroxidase antibody (antiTPOAb) was also quantified in 255 of these women. GDM was confirmed by a 75-g oral glucose tolerance test using World Health Organization criteria. No statistically significant difference was found between the 80 (26.6%) women with GDM and the 221 (73.4%) women without GDM for any of the thyroid function tests. In the cohort tested for antiTPOAb, the 51 (20.0%) women who were positive for antiTPOAb had higher mean TSH (1.57 ± 2.49 mIU/l; p < 0.001) than the women negative for antiTPOAb. Seventeen (5.6%) women had low FT4 while 12 (4.0%) women had high TSH; 28 (9.3%) women had low serum TSH, among whom three (1.0%) also had high FT4. The significantly higher prevalence of hypothyroxinemia and antiTPOAb titers than generally reported warrants routine screening for thyroid abnormalities. This screening, which can be effectively and easily incorporated into screening practices already in place for GDM, would result in improved obstetric care.
Although hypovitaminosis D has been reported in the neonatal period and infancy, there is currently little information on the longitudinal changes in vitamin D status throughout early infancy.
To identify the midtrimester sonographic changes of fetal body composition in women with gestational diabetes mellitus (GDM). A total of 123 consecutive healthy pregnant women, with normal singleton uncomplicated pregnancies, were examined by ultrasound at 21–24 weeks gestational age. The measurements included fetal biometry, detailed anomaly scan with fetal body composition measurements (subcutaneous fat, liver size, cardiac muscle thickness, and Wharton's jelly area). GDM was confirmed by the 75-g oral glucose tolerance test using the World Health Organization (WHO) criteria, within one week of the ultrasound. Nineteen (15.4%) women were identified to have GDM while 104 (84.6%) women were without GDM. The mean fetal liver length was 36 mm [95%CI 32–37] in women with GDM and 31 mm [95%CI 30–33] in women without GDM (p = 0.03). There was no significant difference in the fetal biometric and other fetal body composition measurements between the two groups. The maternal age, parity and first-trimester body mass index (BMI) were also similar. Liver length appears to be a useful early sonographic marker of fetal changes in women with GDM; these women may benefit by more aggressive treatment and follow-up.