Abdullah S. Al Herbish

Consanguinity and major genetic disorders in Saudi children: a community-based cross- sectional study

BACKGROUND AND OBJECTIVES There is a high rate of consanguinity in Saudi Arabia; however, information on its relationship with genetic disorders is limited. The objective of this cross-sectional study was to explore the role of consanguinity in genetic disorders. SUBJECTS AND METHODS The study sample was determined by a multistage probability random sampling procedure. Consanguinity status was obtained during household visits. Primary care physicians performed a history and physical examination of all children and adolescents younger than 19 years, and all cases of genetic diseases were recorded. The chi-square test was used to compare proportions. RESULTS During the two-year study period (2004–2005), 11 554 of 11 874 (97%) mothers answered the question on consanguinity, and 6470 of 11 554 (56%) were consanguineous. There was no significant association between first-cousin consanguinity and Down syndrome (P=.55). Similarly, there was no significant association with either sickle cell disease (P=.97) or glucose-6-phosphate dehydrogenase deficiency (P=.67) for first-cousin consanguinity. A borderline statistical significance was found for major congenital malformations (P=.05). However, the most significant association with first-cousin consanguinity was congenital heart disease (CHD) (P=.01). Finally, no significant association was found for type 1 diabetes mellitus (P=.92). For all types of consanguinity, similar trends of association were found, with a definite statistically significant association only with CHD (P=.003). CONCLUSION The data suggest a significant role of parental consanguinity in CHD. However, a relationship between consanguinity and other genetic diseases could not be established. The effect of consanguinity on genetic diseases is not uniform and this should be taken into consideration in genetic counseling.

The Haematological Manifestations of Visceral Leishmaniasis in Infancy and Childhood

The haematological manifestations were reviewed in 94 patients (55 males and 39 females) with visceral leishmaniasis. Their ages ranged from 4 months to 12 years (mean per cent 1.8 years). All patients had splenomegaly and were anaemic, while (73 per cent) were neutropenic and (56 per cent) thrombocytopenic. Coagulation abnormalities were encountered in 10 (11 per cent) patients; in four patients this was associated with disseminated intravascular coagulopathy. Bone marrow was hypercellular in (90 per cent), normocellular in (5 per cent), and hypocelluar in (4 per cent). Also variable degrees of erythrophagocytosis and leukophagocytosis were noted with preponderance of histiocytes (46 per cent) and granulomatous formation (25 per cent). Low haemosiderin content in the bone marrow was noted, which together with the finding of high serum ferritin is consistent with anaemia of chronic inflammation. Hypersplenism, haemophagocytosis and granulomatous lesions of the bone marrow, chronic inflammation, and dietary factors appear to be the most important factors in the causation of the haematological changes in visceral leishmaniasis.

Body mass index in Saudi Arabian children and adolescents: A national reference and comparison with international standards.

Background and Objectives: Because there are no reference standards for body mass index (BMI) in Saudi children, we established BMI reference percentiles for normal Saudi Arabian children and adolescents and compared them with international standards. Subjects and Methods : Data from a stratified multistage probability sample were collected from the 13 health regions in Saudi Arabia, as part of a nationwide health profile survey of Saudi Arabian children and adolescents conducted to establish normal physical growth references. Selected households were visited by a trained team. Weight and length/height were measured and recorded following the WHO recommended procedures using the same equipment, which were subjected to both calibration and intra/interobserver variations. Results: Survey of 11 874 eligible households yielded 35 275 full-term and healthy children and adolescents who were subjected to anthropometric measurements. Four BMI curves were produced, from birth to 36 months and 2 to 19 years for girls and boys. The 3 rd , 5 th , 10 th , 25 th , 50 th , 75 th , 85 th , 90 th , 95 th , and 97 th percentiles were produced and compared with the WHO and CDC BMI charts. In the higher percentiles, the Saudi children differed from Western counterparts, indicating that Saudi children have equal or higher BMIs. Conclusion: The BMI curves reflect statistically representative BMI values for Saudi Arabian children and adolescents.

Comparison of the 2005 growth charts for Saudi children and adolescents to the 2000 CDC growth charts.

BACKGROUND AND OBJECTIVES The 2000 CDC growth charts for the United States, a revision of the National Center for Health Statistics/World Health Organization (NCHS/WHO) growth charts, were released in 2002 to replace the NCHS/WHO charts. We evaluated the differences between the CDC growth charts and the Saudi 2005 reference to determine the implications of using the 2000 CDC growth charts in Saudi children and adolescents. SUBJECTS AND METHODS The Saudi reference was based on a cross-sectional representative sample of the Saudi population of healthy children and adolescents from birth to 19 years of age. Measurements of the length/stature, weight and head circumference were performed according to expert recommendations. The CDC charts from birth to 20 years were based on a cross-sectional representative national sample from five sources collected between 1963 and 1994. The data from the CDC study including the 3rd, 5th, 50th, 95th, and 97th percentiles were plotted against the corresponding percentiles on the Saudi charts for the weight for age, height for age, weight for height for children from 0 to 36 months and weight for age, stature for age and body mass index for children 2 to 19 years of age. RESULTS There were major differences between the two growth charts. The main findings were the upward shift of the lower percentiles of the CDC curves and the overlap or downward shift of the upper percentiles, especially for weight, weight for height, and BMI. CONCLUSION The use of the 2000 CDC growth charts for Saudi children and adolescents increases the prevalence of undernutrition, stunting, and wasting, potentially leading to unnecessary referrals, investigations and parental anxiety. The increased prevalence of overweight and obesity is alarming and needs further investigation.

Regional variation in prevalence of overweight and obesity in Saudi children and adolescents

Background/Aims: There are limited data on regional variation of overweight and obesity in the Kingdom of Saudi Arabia. Therefore, the aim of this report is to explore the magnitude of these variation in order to focus preventive programs to regional needs. Setting and Design: Community-based multistage random sample of representative cohort from each region. Patients and Methods: the study sample was cross-sectional, representative of healthy children and adolescents from 2 to 17 years of age. Body mass index (BMI) was calculated according to the formula (weight/height2). The 2000 center for disease control reference was used for the calculation of prevalence of overweight and obesity defined as the proportion of children and adolescents whose BMI for age was above 85th and 95th percentiles respectively, for Northern, Southwestern and Central regions of the Kingdom. Chi-square test was used to assess the difference in prevalence between regions and a P value of <0.05 was considered significant. Results: The sample size was 3525, 3413 and 4174 from 2-17 years of age in the Central, Southwestern and Northern regions respectively. The overall prevalence of overweight was 21%, 13.4% and 20.1%, that of obesity was 9.3%, 6% and 9.1% in the Central, Southwestern and Northern regions respectively indicating a significantly-lower prevalence in the Southwestern compared to other regions (P<0.0001). Conclusions: This report revealed significant regional variations important to consider in planning preventive and therapeutic programs tailored to the needs of each region.

Blood pressure standards for Saudi children and adolescents.

BACKGROUND AND OBJECTIVES Blood pressure levels may vary in children because of genetic, ethnic and socioeconomic factors. To date, there have been no large national studies in Saudi Arabia on blood pressure in children.Therefore, we sought to establish representative blood pressure reference centiles for Saudi Arabian children and adolescents. SUBJECTS AND METHODS We selected a sample of children and adolescents aged from birth to 18 years by multi-stage probability sampling of the Saudi population. The selected sample represented Saudi children from the whole country. Data were collected through a house-to-house survey of all selected households in all 13 regions in the country. Data were analyzed to study the distribution pattern of systolic (SBP) and diastolic blood pressure (DBP) and to develop reference values. The 90th percentile of SBP and DBP values for each age were compared with values from a Turkish and an American study. RESULTS A total of 16 226 Saudi children and adolescents from birth to 18 years were studied. Blood pressure rose steadily with age in both boys and girls. The average annual increase in SBP was 1.66 mm Hg for boys and 1.44 mm Hg for girls. The average annual increase in DBP was 0.83 mm Hg for boys and 0.77 mm Hg for girls. DBP rose sharply in boys at the age of 18 years. Values for the 90th percentile of both SBP and DBP varied in Saudi children from their Turkish and American counterparts for all age groups. CONCLUSION Blood pressure values in this study differed from those from other studies in developing countries and in the United States, indicating that comparison across studies is difficult and from that every population should use their own normal standards to define measured blood pressure levels in children.

Congenital hypothyroidism: increased incidence in Najran province, Saudi Arabia.

Neonatal screening for congenital hypothyroidism using cord serum thyroid-stimulating hormone (TSH) was initiated in Najran health region in September 1990. A total of 30810 newborn infants were screened by April 1995. Of the 24 infants with abnormal thyroid function tests on recall, 22 had permanent primary congenital hypothyroidism (incidence; 1:1400) and in two male siblings transient congenital hypothyroidism (incidence; 1:15400) was proved on follow-up. There was a significantly higher incidence of dyshormonogenesis. Eight (57 per cent) of the 14 infants who were adequately studied thyroid scan revealed ectopic glands with increased 99mTc uptake, while thyroid ectopy and aplasia were present only in three (22 per cent) infants each. Furthermore, goiter was evident clinically in two other patients.

Acute rheumatic fever in Saudi Arabia: Mild pattern of initial attack

SummaryFifty-one children with the initial attack of acute rheumatic fever (ARF) were studied prospectively to verify the sociodemographic and clinical profile and to compare results with those from other countries. Most children belonged to large families who lived in an urban setting with ready access to medical care. Unlike reports from many developing countries, the clinical manifestations in this study paralleled data from the West and included arthritis in 76% of the cases, carditis in 43%, and chorea in 8%. Among the 22 cases with carditis, 18 had mitral regurgitation, three developed combined mitral and aortic regurgitation, and one had aortic regurgitation. This study demonstrates the mild nature of ARF in Saudi Arabia and supports the concept that climate and geography appear to bear little relationship to the incidence and severity of ARF.

Neonatal screening for congenital hypothyroidism in Saudi Arabia: results of screening the first 1 million newborns

Abstract Introduction : Since the initiation of pilot screening programs to detect congenital hypothyroidism (CH) in 1972, newborn screening has become routine in the developed world. A national screening program for CH was established in Saudi Arabia in November, 1989. Methods: The program utilizes cord serum thyroid stimulating hormone (TSH), tested by the Delfia method, supplemented when necessary with thyroxine (T4) assay, also by the Delfia method. TSH values above 60 mU/l alone were considered suggestive of CH and initiated recall of the infant. TSH values of 30–60 mU/l initiated T4 measurement. If the latter was below 80 nmol/l, the infant was also recalled. Results: Between November 1989 and April 1995, a total of 1007 350 infants were screened. The mean recall rate was 0.18% (range 0.05–0.3%). Of those, 306 infants were confirmed to have CH, indicating an incidence for CH in Saudi Arabia of 1:3292. However, a regional variation in incidence was noted. Of all the infants with congenital hypothyroidism who were adequately studied, 47.5% were found to have ectopic thyroid glands, 31.7% eutopic glands with increased 99m Tc uptake and 20.8% athyreotic. The mean age at the time of recall was 19.4 days (range 2–130). The average cost of screening was US S3.20 per specimen. Discussion: Several of the organizational and administrative difficulties which were encountered during the operation were discussed and solved at regional levels and during the annual general meetings.

Visceral Leishmaniasis in Infancy and Childhood Epidemiology and Clinicopathological Study of 63 Cases in Al-Baha Province, Saudi Arabia

The epidemiology, clinicopathological features, and response to therapy of 63 Saudi patients with visceral leishmaniasis are described. The clinical features in our cases were similar to those described from Asir province, India, and Ethiopia, except for the presence of lymphadenopathy. Fever, hepatosplenomegaly, pancytopenia, and liver dysfunction were common findings. The unusual feature is the seasonal variation in the distribution of the disease. The response to sodium stibogluconate was excellent and the mortality rate was low (less than 1 per cent).