Reem Zayed - Academia.edu (original) (raw)

Papers by Reem Zayed

Research paper thumbnail of Maternal vitamin D status throughout and after pregnancy

Journal of Obstetrics and Gynaecology, Feb 1, 2010

Prospective longitudinal study of vitamin D status and its risk factors in 75 pregnant women from... more 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).

Research paper thumbnail of Efficacy of daily and monthly high-dose calciferol in vitamin D–deficient nulliparous and lactating women

The American Journal of Clinical Nutrition, Jun 1, 2007

Background: We previously found a high prevalence of vitamin D deficiency and low medication regi... more 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 D 2 , 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 D 2 /d or 60 000 IU vitamin D 2 /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 Ȁ SD 25(OH)D concentrations at 3 mo were significantly higher than baseline in both lactating (39.8 Ȁ 12.4 and 25.2 Ȁ 10.7 nmol/L, respectively) and nulliparous (40.4 Ȁ 23.4 and 19.3 Ȁ 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 ͧ50 nmol/L in 21 (30%) of 71 women at endpoint. Conclusions: Oral vitamin D 2 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 ͧ50 nmol/L. This suggests that, when sunlight exposure is limited, doses of vitamin D 2 higher than those currently studied may be needed. Monthly dosing appears to be a safe and effective alternative to daily dosing.

Research paper thumbnail of Effect of combined maternal and infant vitamin D supplementation on vitamin D status of exclusively breastfed infants

Maternal and Child Nutrition, 2009

Severe vitamin D deficiency in mothers and their breastfed infants is a significant health proble... more 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] Յ 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 Ϯ 8.6 vs. 49.6 Ϯ 18.5 nmol L-1 , P < 0.0001) and group 2 (13.7 Ϯ 12.1 vs. 44.6 Ϯ 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.

Research paper thumbnail of Congenital hypothyroidism (CH) in the United Arab Emirates (UAE) - past, present and future

23rd Joint Meeting of the British Endocrine Societies with the European Federation of Endocrine Societies, Mar 1, 2004

Research paper thumbnail of The epidemiology of congenital hypothyroidism in the United Arab Emirates

Research paper thumbnail of Cord Blood Thyroxine and Thyroid Stimulating Hormone Screening for Congenital Hypothyroidism: How Useful Are They?

Journal of Pediatric Endocrinology and Metabolism, 2008

To determine and compare the usefulness of cord blood screening for free thyroxine (FT4) and thyr... more To determine and compare the usefulness of cord blood screening for free thyroxine (FT4) and thyroid stimulating hormone (TSH). There is a vast amount of literature on capillary heel prick screening tests, but relatively little on cord blood testing particularly FT4. For a decade all infants born at Tawam Hospital had cord blood FT4 and at Oasis Hospital cord TSH measured through the hospital-based screening programme. On January 1st 1998, the national screening programme (NSP) for congenital hypothyroidism (CH) in the United Arab Emirates (UAE) started using capillary TSH measurement (Delfia method). Since then newborns in both hospitals have been screened both ways, i.e. cord blood and capillary blood screening. We reviewed retrospectively all infants born from January 1998 until the end of June 2004 with CH who had double screening: cord FT4 or TSH and 4th-5th day TSH screening. Thirteen infants (one in 1,778) had CH in Tawam Hospital. In six of these the cord blood FT4 was low (&lt;9.1 pm/l) (0.73 ng/dl) and in seven the cord blood FT4 was normal, i.e., over half were missed. Eight infants (one in 1,198) had CH in the Oasis Hospital. Cord blood TSH was high in six of them (&gt;13 IU/l) and two were normal. Cord FT4 detected the most severe cases, but missed most others. Cord TSH detected six out of eight cases, but there was a recall rate of one in 23. Cord FT4 identifies only infants with severe CH. Cord TSH is more sensitive than cord FT4 screening. Capillary TSH dried blood spot testing on the 3rd-5th day is the most sensitive method.

Research paper thumbnail of Longitudinal study of vitamin D status in the 1st 6 months of life

Annals of Tropical Paediatrics, 2011

Although hypovitaminosis D has been reported in the neonatal period and infancy, there is current... more 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. Aim: To estimate, in Al Ain, UAE, the prevalence of vitamin D deficiency and longitudinal changes and risk factors in infants between birth and 6 months of age. Methods: Serum 25-OH-vitamin-D levels were measured after birth and 6 months later in 27 infants of mothers of Middle Eastern or Asian origin who were pregnant between the months of September and November 2007. Results: At delivery, mean (SD) maternal serum 25-OH-vitamin-D level was 35.5 nmol/L (24.7); five mothers (22%, 95% CI 0.7-43) had adequate serum levels (.50 mmol/L), 11 (48%, 95% CI 27-70) insufficient levels (25-50 nmol/L) and seven (30%, 95% CI 13-53) deficient (,25 nmol/L) levels. Serum 25-OH-vitamin-D levels were adequate in eight infants (30%, CI 14-50%), insufficient in 13 (48%, CI 28-60%) and deficient in six (22%, CI 8.5-42%). Despite recommendations, none had received any vitamin D supplementation since birth. Despite the high prevalence of hypovitaminosis D at birth and the lack of pharmacological supplementation, the number of infants with adequate levels at 6 months of age rose to 20 (87%, CI 66-97%). No infant had deficiency (CI 0-21%) and three (13%, CI 27-33%) had insufficiency. Adequate levels were detected in four infants who were partially breastfed [mean (SD) 108.5 (20.7) nmol/L] and in only 84% of the 19 exclusively breastfed infants [mean (SD) 96.2 (44.5) nmol/L] but the difference was not statistically significant. Although serum levels improved at 6 months, it occurred more slowly in exclusively breastfed infants. Conclusion: In the absence of vitamin D supplementation, guidelines for vitamin D supplementation in infancy still need to be followed because the mechanisms for normalisation are not clearly understood.

Research paper thumbnail of 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

The Journal of Pediatrics, Feb 1, 2003

To determine the prevalence of hypovitaminosis D in exclusively breast-feeding infants and their ... more To determine the prevalence of hypovitaminosis D in exclusively breast-feeding infants and their mothers in a community where maternal sunshine exposure is low. 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. 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 &amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;lt;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. 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.

Research paper thumbnail of Scoping review of patient- and family-oriented outcomes and measures for chronic pediatric disease

BMC Pediatrics, Feb 13, 2015

Background: Improvements in health care for children with chronic diseases must be informed by re... more 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.

Research paper thumbnail of 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 regi... more 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. MeanSD 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 1...

Research paper thumbnail of The epidemiology of congenital hypothyroidism in the United Arab Emirates

The newborn screening for congenital hypothyroidism (CR) started in the West in the sixties. The ... more The newborn screening for congenital hypothyroidism (CR) started in the West in the sixties. The guidelines for screening were introduced in the majority of western countries some 30 years ago and were adapted in 1997 by the World Health Organization. The United Arab Emirates (UAE) started newborn screening for CH in 1998 and was considered one of the leading countries in the Middle East to apply this programme nationwide. Before newborn screening for CH in the UAE, little was known about the epidemiology of the disease in this part of the world which shares the same epidemiological pattern of the Gulf region and the Middle East This nationwide study investigated the epidemiological pattern of CH in the UAE in terms of assessment of biological and environmental components and their significance in the relatively increased incidence of the disease in this community compared to the worldwide incidence (1:30004000). This study employed radioimmunoassay technique used by the newborn scr...

Research paper thumbnail of Efficacy of daily and monthly high-dose calciferol in vitamin D–deficient nulliparous and lactating women

… American journal of …, 2007

3 Reprints not available. Address correspondence to HF Saadi, Department of Internal Medicine, Fa... more 3 Reprints not available. Address correspondence to HF Saadi, Department of Internal Medicine, Faculty of Medicine and Health Sciences, United Arab Emirates University, PO Box 17666, Al Ain, UAE. E-mail: saadih{at}uaeu.ac.ae. ... Background: We previously found a ...

Research paper thumbnail of Thyroid function abnormalities and antithyroid antibody prevalence in pregnant women at high risk for gestational diabetes mellitus

Gynecological Endocrinology, 2006

Both gestational diabetes mellitus (GDM) and thyroid dysfunction in pregnancy compromise maternal... more 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 &amp;amp;amp;amp;amp;amp;amp;amp;#39;universal screening&amp;amp;amp;amp;amp;amp;amp;amp;#39; 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 &amp;amp;amp;amp;amp;amp;amp;amp;lt; 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.

Research paper thumbnail of OP08.04: Early sonographic changes of fetal body composition in gestational diabetes mellitus

Ultrasound in Obstetrics and Gynecology, 2006

was performed in 289 women. Two different formulae were used: Shepard (SHEP EFW) and Hadlock (HAD... more was performed in 289 women. Two different formulae were used: Shepard (SHEP EFW) and Hadlock (HAD EFW). In 262 of these women, the fetal weight was estimated clinically by both the doctor (DR EFW) and the woman herself (WM EFW). The four estimated fetal weights were compared to actual birthweight. Results: The mean absolute percentage error was 7.6 ± 5.6% for DR EFW, 9.7 ± 8.7% for WM EFW, 9.3 ± 7.3% for SHEP EFW and 10.7 ± 7.8% for HAD EFW. All four EFW's were significantly different from birthweight (t = −4.7, t = −5.5, t = −2.9, t = −10.6 respectively, all P < 0.05). The corresponding proportion of the EFWs which were within 10% of birthweight were 71%, 59%, 62% and 44% respectively. The sensitivity and specificity of detecting a fetus weighing < 3000 g were 56% and 98% for DR EFW, 90% and 89% for WM EFW, 93% and 85% for SHEP EFW and 100% and 78% for HAD EFW. The corresponding values for detecting a fetus > 4000 g were 16% and 99%, 29% and 96%, 46% and 91%, 40% and 90% respectively. Conclusions: Although in general clinical estimates of birthweight perform favorably compared to ultrasound, ultrasound immediately prior to labor is more accurate at predicting the small-or large-forgestational-age fetus.

Research paper thumbnail of Patient- and family-oriented outcomes for inborn errors of metabolism: The perspective of patient advocacy and support groups

Clinical Biochemistry, 2014

Research paper thumbnail of Effect of combined maternal and infant vitamin D supplementation on vitamin D status of exclusively breastfed infants

Maternal & Child Nutrition, 2009

Severe vitamin D deficiency in mothers and their breastfed infants is a significant health proble... more 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] &amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;lt;or= 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 &amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;lt; 0.0001) and group 2 (13.7 +/- 12.1 vs. 44.6 +/- 15.0 nmol L(-1), P &amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;lt; 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 (&amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;lt;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&amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;#39; serum 25(OH)D concentrations and a 64% reduction in the prevalence of vitamin D deficiency without causing hypervitaminosis D.

Research paper thumbnail of Gestational diabetes: relevance of diagnostic criteria and preventive strategies for Type 2 diabetes mellitus

Archives of Gynecology and Obstetrics, 2007

Objective Women with gestational diabetes mellitus (GDM) are at risk to develop Type 2 diabetes m... more 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 populationattributable 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.

Research paper thumbnail of 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

The Journal of Pediatrics, 2003

To determine the prevalence of hypovitaminosis D in exclusively breast-feeding infants and their ... more To determine the prevalence of hypovitaminosis D in exclusively breast-feeding infants and their mothers in a community where maternal sunshine exposure is low. 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. 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 &amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;lt;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. 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.

Research paper thumbnail of Gestational diabetes mellitus: Fetal liver length measurements between 21and 24 weeks' gestation

Journal of Clinical Ultrasound, 2007

Purpose. To evaluate sonographic measurements of the fetal liver, fetal abdominal fat layer, inte... more 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).

Research paper thumbnail of Scoping review of patient- and family-oriented outcomes and measures for chronic pediatric disease

BMC Pediatrics

Background: Improvements in health care for children with chronic diseases must be informed by re... more 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.

Research paper thumbnail of Maternal vitamin D status throughout and after pregnancy

Journal of Obstetrics and Gynaecology, Feb 1, 2010

Prospective longitudinal study of vitamin D status and its risk factors in 75 pregnant women from... more 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 &gt; 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).

Research paper thumbnail of Efficacy of daily and monthly high-dose calciferol in vitamin D–deficient nulliparous and lactating women

The American Journal of Clinical Nutrition, Jun 1, 2007

Background: We previously found a high prevalence of vitamin D deficiency and low medication regi... more 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 D 2 , 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 D 2 /d or 60 000 IU vitamin D 2 /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 Ȁ SD 25(OH)D concentrations at 3 mo were significantly higher than baseline in both lactating (39.8 Ȁ 12.4 and 25.2 Ȁ 10.7 nmol/L, respectively) and nulliparous (40.4 Ȁ 23.4 and 19.3 Ȁ 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 ͧ50 nmol/L in 21 (30%) of 71 women at endpoint. Conclusions: Oral vitamin D 2 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 ͧ50 nmol/L. This suggests that, when sunlight exposure is limited, doses of vitamin D 2 higher than those currently studied may be needed. Monthly dosing appears to be a safe and effective alternative to daily dosing.

Research paper thumbnail of Effect of combined maternal and infant vitamin D supplementation on vitamin D status of exclusively breastfed infants

Maternal and Child Nutrition, 2009

Severe vitamin D deficiency in mothers and their breastfed infants is a significant health proble... more 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] Յ 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 Ϯ 8.6 vs. 49.6 Ϯ 18.5 nmol L-1 , P < 0.0001) and group 2 (13.7 Ϯ 12.1 vs. 44.6 Ϯ 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.

Research paper thumbnail of Congenital hypothyroidism (CH) in the United Arab Emirates (UAE) - past, present and future

23rd Joint Meeting of the British Endocrine Societies with the European Federation of Endocrine Societies, Mar 1, 2004

Research paper thumbnail of The epidemiology of congenital hypothyroidism in the United Arab Emirates

Research paper thumbnail of Cord Blood Thyroxine and Thyroid Stimulating Hormone Screening for Congenital Hypothyroidism: How Useful Are They?

Journal of Pediatric Endocrinology and Metabolism, 2008

To determine and compare the usefulness of cord blood screening for free thyroxine (FT4) and thyr... more To determine and compare the usefulness of cord blood screening for free thyroxine (FT4) and thyroid stimulating hormone (TSH). There is a vast amount of literature on capillary heel prick screening tests, but relatively little on cord blood testing particularly FT4. For a decade all infants born at Tawam Hospital had cord blood FT4 and at Oasis Hospital cord TSH measured through the hospital-based screening programme. On January 1st 1998, the national screening programme (NSP) for congenital hypothyroidism (CH) in the United Arab Emirates (UAE) started using capillary TSH measurement (Delfia method). Since then newborns in both hospitals have been screened both ways, i.e. cord blood and capillary blood screening. We reviewed retrospectively all infants born from January 1998 until the end of June 2004 with CH who had double screening: cord FT4 or TSH and 4th-5th day TSH screening. Thirteen infants (one in 1,778) had CH in Tawam Hospital. In six of these the cord blood FT4 was low (&lt;9.1 pm/l) (0.73 ng/dl) and in seven the cord blood FT4 was normal, i.e., over half were missed. Eight infants (one in 1,198) had CH in the Oasis Hospital. Cord blood TSH was high in six of them (&gt;13 IU/l) and two were normal. Cord FT4 detected the most severe cases, but missed most others. Cord TSH detected six out of eight cases, but there was a recall rate of one in 23. Cord FT4 identifies only infants with severe CH. Cord TSH is more sensitive than cord FT4 screening. Capillary TSH dried blood spot testing on the 3rd-5th day is the most sensitive method.

Research paper thumbnail of Longitudinal study of vitamin D status in the 1st 6 months of life

Annals of Tropical Paediatrics, 2011

Although hypovitaminosis D has been reported in the neonatal period and infancy, there is current... more 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. Aim: To estimate, in Al Ain, UAE, the prevalence of vitamin D deficiency and longitudinal changes and risk factors in infants between birth and 6 months of age. Methods: Serum 25-OH-vitamin-D levels were measured after birth and 6 months later in 27 infants of mothers of Middle Eastern or Asian origin who were pregnant between the months of September and November 2007. Results: At delivery, mean (SD) maternal serum 25-OH-vitamin-D level was 35.5 nmol/L (24.7); five mothers (22%, 95% CI 0.7-43) had adequate serum levels (.50 mmol/L), 11 (48%, 95% CI 27-70) insufficient levels (25-50 nmol/L) and seven (30%, 95% CI 13-53) deficient (,25 nmol/L) levels. Serum 25-OH-vitamin-D levels were adequate in eight infants (30%, CI 14-50%), insufficient in 13 (48%, CI 28-60%) and deficient in six (22%, CI 8.5-42%). Despite recommendations, none had received any vitamin D supplementation since birth. Despite the high prevalence of hypovitaminosis D at birth and the lack of pharmacological supplementation, the number of infants with adequate levels at 6 months of age rose to 20 (87%, CI 66-97%). No infant had deficiency (CI 0-21%) and three (13%, CI 27-33%) had insufficiency. Adequate levels were detected in four infants who were partially breastfed [mean (SD) 108.5 (20.7) nmol/L] and in only 84% of the 19 exclusively breastfed infants [mean (SD) 96.2 (44.5) nmol/L] but the difference was not statistically significant. Although serum levels improved at 6 months, it occurred more slowly in exclusively breastfed infants. Conclusion: In the absence of vitamin D supplementation, guidelines for vitamin D supplementation in infancy still need to be followed because the mechanisms for normalisation are not clearly understood.

Research paper thumbnail of 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

The Journal of Pediatrics, Feb 1, 2003

To determine the prevalence of hypovitaminosis D in exclusively breast-feeding infants and their ... more To determine the prevalence of hypovitaminosis D in exclusively breast-feeding infants and their mothers in a community where maternal sunshine exposure is low. 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. 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 &amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;lt;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. 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.

Research paper thumbnail of Scoping review of patient- and family-oriented outcomes and measures for chronic pediatric disease

BMC Pediatrics, Feb 13, 2015

Background: Improvements in health care for children with chronic diseases must be informed by re... more 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.

Research paper thumbnail of 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 regi... more 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. MeanSD 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 1...

Research paper thumbnail of The epidemiology of congenital hypothyroidism in the United Arab Emirates

The newborn screening for congenital hypothyroidism (CR) started in the West in the sixties. The ... more The newborn screening for congenital hypothyroidism (CR) started in the West in the sixties. The guidelines for screening were introduced in the majority of western countries some 30 years ago and were adapted in 1997 by the World Health Organization. The United Arab Emirates (UAE) started newborn screening for CH in 1998 and was considered one of the leading countries in the Middle East to apply this programme nationwide. Before newborn screening for CH in the UAE, little was known about the epidemiology of the disease in this part of the world which shares the same epidemiological pattern of the Gulf region and the Middle East This nationwide study investigated the epidemiological pattern of CH in the UAE in terms of assessment of biological and environmental components and their significance in the relatively increased incidence of the disease in this community compared to the worldwide incidence (1:30004000). This study employed radioimmunoassay technique used by the newborn scr...

Research paper thumbnail of Efficacy of daily and monthly high-dose calciferol in vitamin D–deficient nulliparous and lactating women

… American journal of …, 2007

3 Reprints not available. Address correspondence to HF Saadi, Department of Internal Medicine, Fa... more 3 Reprints not available. Address correspondence to HF Saadi, Department of Internal Medicine, Faculty of Medicine and Health Sciences, United Arab Emirates University, PO Box 17666, Al Ain, UAE. E-mail: saadih{at}uaeu.ac.ae. ... Background: We previously found a ...

Research paper thumbnail of Thyroid function abnormalities and antithyroid antibody prevalence in pregnant women at high risk for gestational diabetes mellitus

Gynecological Endocrinology, 2006

Both gestational diabetes mellitus (GDM) and thyroid dysfunction in pregnancy compromise maternal... more 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 &amp;amp;amp;amp;amp;amp;amp;amp;#39;universal screening&amp;amp;amp;amp;amp;amp;amp;amp;#39; 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 &amp;amp;amp;amp;amp;amp;amp;amp;lt; 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.

Research paper thumbnail of OP08.04: Early sonographic changes of fetal body composition in gestational diabetes mellitus

Ultrasound in Obstetrics and Gynecology, 2006

was performed in 289 women. Two different formulae were used: Shepard (SHEP EFW) and Hadlock (HAD... more was performed in 289 women. Two different formulae were used: Shepard (SHEP EFW) and Hadlock (HAD EFW). In 262 of these women, the fetal weight was estimated clinically by both the doctor (DR EFW) and the woman herself (WM EFW). The four estimated fetal weights were compared to actual birthweight. Results: The mean absolute percentage error was 7.6 ± 5.6% for DR EFW, 9.7 ± 8.7% for WM EFW, 9.3 ± 7.3% for SHEP EFW and 10.7 ± 7.8% for HAD EFW. All four EFW's were significantly different from birthweight (t = −4.7, t = −5.5, t = −2.9, t = −10.6 respectively, all P < 0.05). The corresponding proportion of the EFWs which were within 10% of birthweight were 71%, 59%, 62% and 44% respectively. The sensitivity and specificity of detecting a fetus weighing < 3000 g were 56% and 98% for DR EFW, 90% and 89% for WM EFW, 93% and 85% for SHEP EFW and 100% and 78% for HAD EFW. The corresponding values for detecting a fetus > 4000 g were 16% and 99%, 29% and 96%, 46% and 91%, 40% and 90% respectively. Conclusions: Although in general clinical estimates of birthweight perform favorably compared to ultrasound, ultrasound immediately prior to labor is more accurate at predicting the small-or large-forgestational-age fetus.

Research paper thumbnail of Patient- and family-oriented outcomes for inborn errors of metabolism: The perspective of patient advocacy and support groups

Clinical Biochemistry, 2014

Research paper thumbnail of Effect of combined maternal and infant vitamin D supplementation on vitamin D status of exclusively breastfed infants

Maternal & Child Nutrition, 2009

Severe vitamin D deficiency in mothers and their breastfed infants is a significant health proble... more 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] &amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;lt;or= 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 &amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;lt; 0.0001) and group 2 (13.7 +/- 12.1 vs. 44.6 +/- 15.0 nmol L(-1), P &amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;lt; 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 (&amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;lt;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&amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;#39; serum 25(OH)D concentrations and a 64% reduction in the prevalence of vitamin D deficiency without causing hypervitaminosis D.

Research paper thumbnail of Gestational diabetes: relevance of diagnostic criteria and preventive strategies for Type 2 diabetes mellitus

Archives of Gynecology and Obstetrics, 2007

Objective Women with gestational diabetes mellitus (GDM) are at risk to develop Type 2 diabetes m... more 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 populationattributable 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.

Research paper thumbnail of 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

The Journal of Pediatrics, 2003

To determine the prevalence of hypovitaminosis D in exclusively breast-feeding infants and their ... more To determine the prevalence of hypovitaminosis D in exclusively breast-feeding infants and their mothers in a community where maternal sunshine exposure is low. 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. 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 &amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;lt;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. 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.

Research paper thumbnail of Gestational diabetes mellitus: Fetal liver length measurements between 21and 24 weeks' gestation

Journal of Clinical Ultrasound, 2007

Purpose. To evaluate sonographic measurements of the fetal liver, fetal abdominal fat layer, inte... more 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).

Research paper thumbnail of Scoping review of patient- and family-oriented outcomes and measures for chronic pediatric disease

BMC Pediatrics

Background: Improvements in health care for children with chronic diseases must be informed by re... more 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.

Research paper thumbnail of Patient- and family-oriented outcomes for inborn errors of metabolism: A scoping review

Alberta. Secondly, it can be difficult to discern whether a normal follow-up serum TSH has been d... more Alberta. Secondly, it can be difficult to discern whether a normal follow-up serum TSH has been drawn prior to initiation of therapy. The development of follow-up forms will improve outcome data for CH.