Recall rate and positive predictive value of MSUD screening is not influenced by hydroxyproline

Maple syrup urine disease (MSUD) is an autosomal recessive inherited disorder caused by the deficiency of the branched-chain 2-oxo acid dehydrogenase (BCOA-DH) complex. The worldwide incidence is approximately 1 in 185,000. MSUD is integrated in many “expanded” newborn screening (NBS) programs that use electrospray ionization tandem mass spectrometry (ESI-MS/MS). Elevated leucine, isoleucine, and alloisoleucine in the dried blood samples (DBS) of newborns are diagnostic parameters. However, with the applied method, it is not possible to distinguish the amino acids from each other, and also not from the other isobaric amino acid, hydroxyproline. While the branched chain amino acids (BCAA) leucine, isoleucine, and alloisoleucine are no diagnostic problem, because they are all elevated in MSUD patients, and, rather, increase the diagnostic sensitivity and specificity, hydroxyproline may cause false-positive screening results. Hydroxyproline is elevated in the benign familial condition hyperhydroxyprolinemia, which needs no medical intervention. The detection of cases with hyperhydroxyprolinemia have formerly been reported from screening programs that used thin-layer chromatography for phenylketonuria (PKU) screening, and, recently, two more cases have been reported, detected by ESI-MS/MS-based NBS. However, the detection of non-diseases is a heavy burden for screening programs and should be avoided if possible. With optimal settings for the quantitation of BCAAs and interpretation rules, elevated hydroxyproline should not cause false-positive screening results.     

The Ecological Context of Child Health in Saudi Arabia

ABSTRACT. The general background to child health in Saudi Arabia is reviewed. Information is provided on the social and demographic characteristics of the population, on common health indicators, on the health care system and its utilization, and on the general pattern of childhood morbidity and mortality. The unprecendented socioeconomic development has transformed the health care system. In 15 years the number of nurses have increased from 3261 to 29896, physicians from 1172 to 14335, primary health care centers from 591 to 1821, and hospital beds from 9036 to 30707. In spite of this progress, the disease pattern seems to resemble that of some developing countries with more limited resources. Parasitic diseases are still widespread, and sample surveys have indicated suboptimal nutrition of rural preschool children. Recent estimates on the infant mortality rate have ranged from 65 to 120 per 1000 live births. The preferred marriage partner is a close relative, and genetic diseases, such as hemoglobin disorders, are common in certain areas. Thus, the prevalence of alpha thalassemia is reported at 50 percent, and the sickle cell trait at 4.4–20 percent in sample surveys from the Eastern Province. The modest educational attainment of the mother, the heavy reliance on foreign manpower in all sectors, including the health sector, and the further development of the primary health care system are key issues today. It is emphasized that demographic and epidemiological information from Saudi Arabia is scarce and frequently uncertain, and that further studies are needed to identify the health needs of Saudi children.     

Patterns of Breastfeeding and Weaning in Saudi Arabia

ABSTRACT. The patterns of breastfeeding and weaning were studied in 4 groups of Saudi children: Privileged urban children; children representing the average urban population; less privileged urban children, and rural children from 3 different areas. The data represented retrospective and actual information and were analyzed according to the life table technique. The median duration of breastfeeding of rural, urban low, urban average and urban privileged children was 17.8 months, 10.8 months, 7.5 months and 2.1 months, respectively. In all groups the rate of breastfeeding was lower in young compared with old mothers. Thus the median duration of breastfeeding was 11.7 months for rural mothers <23 years and 23.6 months for mothers >31 years. Corresponding figures for urban low mothers were 3.4 months and 11.4 months, respectively. By one month 52 percent of privileged and 42 percent of urban low children were started on bottle. By contrast, 26 percent of rural children were started on bottle at 6 months, At 6 months, 6 percent of rural children were started on any kind of solid foods compared with 90 percent of privileged children; at 12 months the figures were 33 and 96 percent, respectively. The data indicated a successive decline in the duration of breastfeeding with increasing affluence, and late introduction of weaning foods to rural children.     

Feeding pattern of children under two years of age in Riyadh, Saudi Arabia

Mothers or other close relatives of children who were in hospital in Riyadh, were asked about their feeding practices. Sixty-four per cent of mothers of newborn babies had attended antenatal clinics, but only 10% had received any instructions on feeding. Of the hospitalized children only 27% were receiving breast milk alone by one month of age. However, of the 28% of mothers who had some education, 84% were breast feeding at three months of age. In Riyadh 36 brands of artificial milk feeds are available, and by three months of age, the average baby had been on six varieties of milk. Less than 14% of mothers intending to bottle feed could read the instructions, and of those who believed they knew how, only 18% made up the formula correctly. Educational opportunities need to be exploited and easy availability of artificial milk curbed.     

Ambiguous genitalia: medical, socio-cultural and religious factors affecting management in Saudi Arabia.

Twenty-eight children with ambiguous genitalia were seen at King Khalid University Hospital over a 6-year period. The incidence of this disorder was 0.4/1000 live births. Of the total, 21 (75%) were Saudis and seven (25%) were non-Saudis. The consanguinity rate was 67.9%. Twenty-four (85.7%) were born in hospital and four (14.3%) at home. In only three (10.7%) was the news first broken to the parents by a senior doctor, in 13 (46.4%) by a junior doctor, and in 11 (39.3%) by a nurse. Ambiguous genitalia were observed in 22 (78.6%) at birth and in six (21.4%) were picked up later. Owing to a lack of immediate investigative facilities and for some socio-cultural reasons, 19 of the latter groups were assigned sex without prior investigations. There was an obvious preference to assign male sex. On investigation, 13 (46.4%) had XX chromosomes, 11 (39%) XY and one (3.6%) XO: in three (10.7%), chromosomal results were not available. There were 14 cases (50%) of congenital adrenal hyperplasia, two of 5-alpha reductase deficiency (7.1%), and five of testicular feminization syndrome (17.9%), in addition to others. After investigation, five (17.9%) of the children needed sex reassignment. This was accepted by two and rejected for socio-cultural reasons by three. The opinion of the religious leaders was obtained. Some recommendations on management of these cases are made, based on our local experience.     

A comparative study of prevalence of overweight and obesity in children in different provinces of Saudi Arabia

The aim of this study was to determine the prevalence of overweight and obesity in Saudi children from different provinces of the country and in different age groups. A total of 12,701 children (6,281 boys and 6,420 girls) with ages ranging from 1 to 18 years were enrolled during a household screening programme in different provinces of Saudi Arabia and height and weight were recorded. Body Mass Index (BMI) was calculated and applying age and sex specific cut-off points for BMI the children were grouped into overweight and obese. The overall prevalence of overweight was 10.68 and 12.7 per cent and that of obesity was 5.98 and 6.74 per cent in the boys and girls, respectively. In the different provinces the prevalence of overweight ranged from 8.8 to 27.4 per cent and from 9.3 to 27.6 per cent and obesity ranged from 4.7 to 10.4 per cent and from 4.3 to 13.8 per cent in the boys and girls, respectively. Prevalence of overweight and obesity was also calculated after grouping the children into 17 groups according to age. It is concluded that overweight and obesity occur in all provinces of Saudi Arabia although at a variable prevalence. In general, girls have a higher prevalence of both overweight and obesity compared with boys. Eastern province children have the highest prevalence and the Southern province children have the lowest prevalence of overweight and obesity. When grouped according to age, overweight and obesity tend to increase with age. Suggestions are made to prevent overweight and obesity development in Saudi children.     

Prevalence of cryptosporidiosis in Dammam and Alkhobar, Saudi Arabia

This report presents results from a 6-month study over the period 16 November 1986 to 15 May 1987 which was designed to investigate the prevalence of cryptosporidiosis in Dammam and Alkhobar, Saudi Arabia. A total of 209 stool specimens from children and 112 from adults with diarrhoea were examined. Only two (1%) of the children, both aged 2 years, were positive for Cryptosporidium spp. Giardia lamblia was found in 13 (4%) cases and was found to be the most common protozoan parasite, whereas Salmonella spp. was seen in 19 (6%) cases. Stool specimens were examined for rotavirus from children under 2 years of age; 31 (41%) of the specimens were positive.     

Growth and Nutritional Status of Rural Preschool Children in Saudi Arabia

ABSTRACT. The attained growth was assessed in a cross-sectional study of Saudi children 0–71 months of age, from 3 different geographical areas of rural Saudi Arabia. individual data on weight, height, weight for height and head circumference were expressed in SD scores of international standards, and data on upper arm muscle and fat areas in percent of the reference median values. The mean (SEM) weight, height, weight for height and head circumference of the entire material were -1.7 (0.05), -1.6 (0.06), -0.9 (0.05) and -1.6 (0.06), respectively. The median upper arm muscle area was 79 percent, and fat area 57 percent of the reference medians. The differencies in mean weight, height and weight for height were trivial between the 3 geograhical areas. All mean values, except that of weight for height were clearly below the means of the reference in children 0–5 months. All mean values declined significantly, however, during the next 6 months. The growth deficits thus obtained remained unchanged or increased slightly up to 6 years. According to WHO criteria, 41 percent were classified as chronically, and 12 percent as acutely undernourished. The growth pattern of rural Saudi children was similar to that of children in most developing countries and distinctly different from that of privileged Saudi children, whose growth pattern resembled that of Western reference populations.     

The first febrile convulsion: an analysis of 108 children in Saudi Arabia

In 108 children admitted to the Maternity and Children's Hospital, Riyadh with their first febrile convulsion, clinical course, management and underlying causes were analysed. There was a preponderance of boys (69%) and a mean age of 18.6 months with a peak incidence (82%) between six months and three years. The commonest precipitating conditions were upper respiratory infection and gastroenteritis. Physical findings were confined to those of the primary disease. Routine investigations, including CSF analysis were not helpful. Convulsions were mainly of the simple type, single and symmetrical, and did not last for more than 30 minutes. Two thirds of the children reached hospital within two hours of the onset of their first convulsion, and the remainder up to ten hours after the convulsion had ceased. In only 18 patients did the parents take measures to lower the temperature or revive the child. Management of febrile convulsions is discussed. Since the condition is common and, if repeated, may have serious effects, methods of educating parents are suggested.     

The natural history of ventricular septal defects in the south-western region of Saudi Arabia

AIM: To determine the natural history and spontaneous closure (SpC) of ventricular septal defect (VSD) in a cohort of patients. METHODS: Using echocardiography, 86 patients with VSD were followed up for 1-168 mths (mean 66.3, SD 46.0). RESULTS: Mean age at diagnosis was 14 mths, 26 patients were diagnosed at < or = 1 mth (group 1) and 60 later (group 2). Types of VSD were: peri-membranous (PM-VSD) 67.4%, muscular (MU-VSD) 19.8%, inlet 7% and subpulmonary/subarterial 5.8%. SpC occurred in 16.3% of the whole group, 34.6% of group 1 and 8.3% of group 2 (p = 0.002). SpC occurred only in PM-VSDs (19%) and in MU-VSDs (17.6%). It occurred in 26.5% of the small VSDs and in none of the large VSDs. One patient (1.2%) developed endocarditis and another pulmonary vascular disease. CONCLUSIONS: PM-VSD was the most common type of VSD. SpC is age-dependent, occurring mainly in PM and MU-VSDs. SpC of a large VSD is unusual.     

Changing Etiology and Outcome of Neonatal Septicemia in Riyadh, Saudi Arabia

ABSTRACT. To study the etiology of neonatal septicemia and factors associated with outcome, all charts of neonates with bacteremia and clinical sepsis admitted to a neonatal unit in Saudi Arabia, from 1 November 1980 to 31 October 1984 were reviewed. The results were compared to a previous study period in the unit (1 November 1976-31 October 1980). Septicemia was diagnosed on 50 occasions in 49 neonates. The incidence of neonatal sepsis among patients bom in the hospital was 2.5/1000 live births. Mortality from sepsis was 33% and was associated with neutropenia in 63%. The most commonly isolated bacteria were E. coli , Klebsiella and Staphylococcus aureus. Salmonella enteritidis serotypes were isolated in 4% of the cases. Group B streptococci (GBS) were isolated, for the first time, from blood of 3 neonates. Salmonella species were less frequently and GBS more often isolated than previously. GBS have now appeared as etiologic organisms in neonatal sepsis also in Saudi Arabia. Salmonella septicemia remains more common in Saudi Arabia than in the West.     

Growth and Nutritional Status of Less Privileged Urban Children in Saudi Arabia

ABSTRACT. The attained growth was assessed in a cross-sectional study of Saudi children 1–71 months of age, growing up in a less privileged area of Riyadh. Individual data on weight, height and weight for height were expressed in SD scores of the NCHS reference and those of triceps skinfold thickness in percent of the reference median. The mean (SD) weight, height and weight for height of the entire material were -0.9 (1.0), -0.8 (1.0), and -0.5 (0.9), respectively and the median tricpes skinfold was 90 percent of the reference median. When stratified by age groups the means were nearly identical with those of the reference populations in the 1–5 month age group. The mean weight and height were significantly below the reference means at 6–11 months, however. There was a similar decline in the mean weight for height and the median tricpes skinfold during the second year of life. The growth deficits of early life remained unchanged or increased slightly up to 6 years. According to WHO citeria, 14 percent of the children were classified as chronically and 3 percent as acutely undernourished. The faltering growth was different from that of privileged Saudi children whose growth pattern was found to resemble that of Western reference populations.     

Vitamin D deficiency and rickets in the Eastern Province of Saudi Arabia

BACKGROUND: Nutritional rickets remains prevalent in many developing countries, despite the availability of ample sunlight. The aim of this study was to investigate the clinical features and chemical pathology in a group of children with rickets and to compare them with a control group. SUBJECTS AND METHODS: In a case-control study over a 1-year period (March 2004 to February 2005), children clinically diagnosed with rickets (n=61) were age- and sex-matched with controls (n=58). In addition to routine chemical pathology, 25 (OH) vitamin D3 and parathormone (PTH) were determined. Controls were children without clinical rickets attending hospital for other blood investigations. RESULTS: The mean age of children with rickets was 14.8 mths and of controls was 16.5 mths. Mean (SD) body mass index of the children with rickets [16.8 (1.86)] was not significantly different from that of the controls [17.02 (3.16)]. Mean (SD) head circumference of rachitic children [45.41 (3.64) cm] was greater than that of controls [44.39 (5.07) cm, p=0.03]. Eighty per cent of the children with rickets were breastfed compared with 67% of controls. Thirty per cent of children with rickets were hypocalcaemic vs <7% of controls, 89% had phosphorus values <1.5 mmol/L vs 34.5% of controls and 75% had alkaline phosphatise levels >500 IU/L vs 28% of controls. Seventy-five per cent of children with rickets had serum 25 (OH) D3 <20 nmol/L vs 25% of controls. Mean (SD) PTH level was 23.59 (19.03) pmol/L in the rachitic group and 1.9 (1.05) pmol/L in controls (p<0.05). Lack of exposure to sunlight was recorded in 90% of the children with rickets and in 37% of the controls. CONCLUSION: Apparently healthy children living in areas where rickets is prevalent have risk factors for rickets and a small proportion will have evidence of biochemical rickets.     

Changing etiology and outcome of neonatal septicemia in Riyadh, Saudi Arabia

To study the etiology of neonatal septicemia and factors associated with outcome, all charts of neonates with bacteremia and clinical sepsis admitted to a neonatal unit in Saudi Arabia, from 1 November 1980 to 31 October 1984 were reviewed. The results were compared to a previous study period in the unit (1 November 1976-31 October 1980). Septicemia was diagnosed on 50 occasions in 49 neonates. The incidence of neonatal sepsis among patients born in the hospital was 2.5/1,000 live births. Mortality from sepsis was 33% and was associated with neutropenia in 63%. The most commonly isolated bacteria were E. coli, Klebsiella and Staphylococcus aureus. Salmonella enteritidis serotypes were isolated in 4% of the cases. Group B streptococci (GBS) were isolated, for the first time, from blood of 3 neonates. Salmonella species were less frequently and GBS more often isolated than previously. GBS have now appeared as etiologic organisms in neonatal sepsis also in Saudi Arabia. Salmonella septicemia remains more common in Saudi Arabia than in the West.     

Epidemiology of infantile hydrocephalus in Saudi Arabia: birth prevalence and associated factors

INTRODUCTION: Hydrocephalus is a common central nervous system disorder in children. In spite of its importance, it has not been subjected to sufficient epidemiological studies, particularly in the developing countries. The aim of this study was to provide information from a representative series of newly diagnosed cases of infantile hydrocephalus on the birth prevalence, associated factors and mortality. METHODOLOGY: A prospective study was conducted over a 1-year period from April 1996 to March 1997 in the city of Al-Madinah Al-Munawarah, Saudi Arabia. Except for neural tube defects and brain tumors, all cases of hydrocephalus diagnosed within the first 28 days of life were included. A control group of 104 subjects was studied for comparison. Information about antenatal, natal and early postnatal periods were obtained by interviewing the mothers of the newborns. RESULTS: During the study period, 26 cases of infantile hydrocephalus were detected. The birth prevalence was 1. 6 per 1,000 live births. There was no sex preponderance as the male to female ratio was 1.2:1. Multiple pregnancies were detected in 21 (81%) cases. Nineteen (73%) cases were the product of consanguineous parent and 4 patients had a positive family history of hydrocephalus. The number of preterm infants was 16 (62%). The number of low birth weights (less than 2,500 g) was 18 (69%). An Apgar score of less than 8 occurred in 18 (69%) cases. The mode of delivery was vaginal in 15 (58%) women. The 6 months mortality rate was 23% (6 infants). CONCLUSION: The birth prevalence of infantile hydrocephalus in this study was significantly higher than in the developed countries. A positive family history of hydrocephalus, low birth weight, low Apgar score and abdominal delivery were found to be associated factors. The mortality rate in the first 6 months of life was significantly higher in hydrocephalus infants than in controls.