Scoping review of patient- and family-oriented outcomes and measures for chronic pediatric disease.

BACKGROUND: 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. METHODS: 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. RESULTS: 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. CONCLUSIONS: 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.

Effect of combined maternal and infant vitamin D supplementation on vitamin D status of exclusively breastfed infants.

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]

Efficacy of daily and monthly high-dose calciferol in vitamin D-deficient nulliparous and lactating women.

BACKGROUND: We previously found a high prevalence of vitamin D deficiency and low medication regimen compliance in Arab and East Indian women residing in the United Arab Emirates (UAE). The appropriate dosing regimen for improving vitamin D status in this population is not known. OBJECTIVE: We aimed to determine the efficacy of daily and monthly supplementation with vitamin D2, the only high-dose calciferol available in the UAE, in lactating and nulliparous women. DESIGN: Healthy lactating (n = 90) and nulliparous (n = 88) women were randomly assigned to consume 2000 IU vitamin D2/d or 60,000 IU vitamin D2/mo for 3 mo. Serum 25-hydroxyvitamin D [25(OH)D] concentrations were measured by radioimmunoassay at baseline and every month. RESULTS: Most women had vitamin D deficiency [ie, 25(OH)D < 50 nmol/L] at study entry. Mean +/- SD 25(OH)D concentrations at 3 mo were significantly higher than baseline in both lactating (39.8 +/- 12.4 and 25.2 +/- 10.7 nmol/L, respectively) and nulliparous (40.4 +/- 23.4 and 19.3 +/- 12.2 nmol/L, respectively) women (P < 0.001 for both). In total, vitamin D supplementation was effective in achieving serum 25(OH)D concentrations of >or=50 nmol/L in 21 (30%) of 71 women at endpoint. CONCLUSIONS: Oral vitamin D2 supplementation with 2000 IU/d or 60,000 IU/mo for 3 mo was safe, and it increased serum 25(OH)D concentrations significantly; however, only a small proportion of the women studied achieved concentrations of >or=50 nmol/L. This suggests that, when sunlight exposure is limited, doses of vitamin D2 higher than those currently studied may be needed. Monthly dosing appears to be a safe and effective alternative to daily dosing.

Gestational diabetes: fasting and postprandial glucose as first prenatal screening tests in a high-risk population.

OBJECTIVE: To evaluate the value of fasting (FPG) and 2-hour postprandial (PPG) plasma glucose as screening tests for gestational diabetes mellitus (GDM) in a high-risk population during early pregnancy. STUDY DESIGN: At their first prenatal visit, 708 women underwent FPG and PPG for universal screening for GDM, with the diagnosis confirmed by the 75-g oral glucose tolerance test (World Health Organization criteria). The area under the receiver operating characteristic curve (AUC) was used to analyze the performance of the 2 screening tests. RESULTS: Of 184 (25.9%) women with GDM, 79 (42.9%) were identified before 18 weeks. The AUC for FPG to predict GDM was 0.579 (95% CI 0.531-0.627). Though a threshold of 85 mg/dL achieved minimally acceptable sensitivity, 79.9%, the corresponding specificity remained poor, 27.5%, with a false positive rate (FPR) of 72.5%. The AUC for PPG was 0.717 (95% CI 0.670-0.765); a cutoff of 95 mg/dL achieved a sensitivity of 79.9% and FPR of 53.1%. CONCLUSION: Though GDM could be diagnosed in > 40% women in early pregnancy at their first prenatal visit, the poor specificity and high FPR of FPG and PPG, alone or in combination, make them unsuitable screening tests for GDM.

Gestational diabetes: relevance of diagnostic criteria and preventive strategies for Type 2 diabetes mellitus.

OBJECTIVE: Women with gestational diabetes mellitus (GDM) are at risk to develop Type 2 diabetes mellitus (DM(2)). The aim of this study was to compare the effect of three international diagnostic criteria on the prevalence of GDM with its implications for prevention of DM(2 )in the population. MATERIALS AND METHODS: One thousand one hundred and seventy-two pregnant women, who underwent the 75-g oral glucose tolerance test for routine, antenatal GDM screening, were classified using the criteria of the American Diabetes Association (ADA), the World Health Organization (WHO) and Australasian Diabetes in Pregnancy Society (ADIPS). The population-attributable risk, (PAR) was used to estimate the proportion of women with DM(2) in the community, who may have been identified much in advance for intervention, by a GDM pregnancy. RESULTS: Using the ADA, WHO and ADPIS criteria, respectively: (a) the prevalence of GDM was 166 (14.2%), 242 (20.6%) and 271 (23.1%) (p < 0.0001); (b) The PAR (95% CI) was 42% (31-52%); 51% (39-62%) and 54% (42-64%). Overall, by all three criteria, 132 (11.3%) women had GDM while 859 (73.3%) were without GDM; the remaining 181 (15.4%) women had classification differences between them. CONCLUSION: The universal acceptance and the ability of the WHO criteria to detect over half the women with DM(2) earlier during pregnancy, makes it ideally suited to identify women with GDM.

Gestational diabetes mellitus: fetal liver length measurements between 21and 24 weeks' gestation.

PURPOSE: To evaluate sonographic measurements of the fetal liver, fetal abdominal fat layer, interventricular septum, and Wharton's jelly area between 21 and 24 weeks' gestation in women with gestational diabetes mellitus (GDM). METHODS: A total of 123 consecutive healthy pregnant women underwent sonographic examination at 21-24 weeks' gestational age. The measurements included fetal biometry, detailed anomaly scan, and fetal body composition measurements (subcutaneous fat, liver size, cardiac muscle thickness, and Wharton's jelly area). GDM was confirmed by way of a 75-g oral glucose tolerance test using World Health Organization criteria within 1 week of the examination. RESULTS: Nineteen (15.4%) women were diagnosed with 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 < 0.01). Liver enlargement was related to maternal fasting glucose levels and not 2-hour postprandial levels. There was no significant difference in the fetal biometric and other fetal body measurements between the 2 groups. CONCLUSIONS: The findings of this study suggest that midtrimester fetal liver length appears to be longer in GDM than in normal pregnancies. However, the fetal abdominal fat layer, interventricular septum, and Wharton's jelly were not affected. Nevertheless, further, larger randomized studies are required to confirm these findings.

Thyroid function abnormalities and antithyroid antibody prevalence in pregnant women at high risk for gestational diabetes mellitus.

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.

Hypovitaminosis D and vitamin D deficiency in exclusively breast-feeding infants and their mothers in summer: a justification for vitamin D supplementation of breast-feeding infants.

OBJECTIVE: To determine the prevalence of hypovitaminosis D in exclusively breast-feeding infants and their mothers in a community where maternal sunshine exposure is low. STUDY DESIGN: Serum levels of calcium, phosphate, alkaline phosphatase, 25-hydroxy vitamin D (25-OHD), and intact parathyroid hormone were measured in 90 unsupplemented healthy term breast-feeding Arab/South Asian infants and their mothers in summer. Maternal dietary vitamin D intake was also estimated. RESULTS: The median age of infants was 6 weeks. The median serum 25-OHD concentrations in mothers (8.6 ng/mL) and infants (4.6 ng/mL) were low, and 61% of the mothers and 82% of the 78 infants tested had hypovitaminosis D (serum 25-OHD <10 ng/mL). The infants with hypovitaminosis D had elevated serum alkaline phosphatase and a tendency to higher serum intact parathyroid hormone levels. The average daily maternal vitamin D intake from commercial milk was 88 IU. CONCLUSIONS: Hypovitaminosis D is common in summer in exclusively breast-feeding infants and their mothers. The results provide justification for vitamin D supplementation of breast-feeding infants and mothers in the United Arab Emirates. Low vitamin D intake probably contributed to low maternal vitamin D status.