Body mass index for Saudi children with Down's syndrome

Aim: Children with Down's syndrome (DS) have a higher prevalence of obesity than children without DS. This study aimed to assess the prevalence of overweight/obesity and to establish reference body mass index (BMI) percentile curves for Saudi children with uncomplicated DS below the age of 5 y. Methods : BMI was measured prospectively in 785 children with DS and compared with 989 Saudi children without DS. Both groups were compared with the international cut-off point figures for age and gender. Results : Obesity was not a prominent features in Saudi children with DS and their mean BMI curves were linear to the international cut-off points for BMI, indicating a clear tendency for overweight. BMI reference percentile curves were constructed.
Conclusion : Reference curves for BMI worked out in this study, taken in conjunction with those for height and weight, will be useful in monitoring the size and shape of Saudi children with DS up to the age of 5 y.     

儿童肾病综合征相关生长迟缓及防治进展

肾病综合征(nephrotic syndrome,NS)是儿童常见的肾脏疾病.糖皮质激素(glucocorticoids,GC)作为NS治疗一线用药,可通过多种途径引起生长激素(growth hormone,GH)分泌和合成障碍,使GH水平降低从而影响生长发育.肾病本身可干预胰岛素样生长因子及胰岛素样生长因子结合蛋白的分泌和调节,生长激素-胰岛素样生长因子轴发生变化是NS患儿生长迟缓的原因之一.NS患儿骨代谢异常和甲状腺功能低下也影响其生长发育.该文对NS相关生长迟缓及其防治作一综述.     

Thyroid dysfunction in children with Down's syndrome

Thyroid function tests were carried out on 320 children with Down's syndrome aged between 5 d and 10 y. Thyroid function was normal in 230 patients (71.9%) and abnormal in 90 (28.1%). Six patients (1.8%) had primary congenital hypothyroidism, one patient had acquired hypothyroidism and two had transient hyperthyrotropinaemia of the newborn. Sixteen of the remaining 81 patients (25.3%) had compensated hypothyroidism with increased thyroid-stimulating hormone (TSH) levels (11-20 mU l -1 ). Their T 4 levels were found to be either normal or close to the lower limit of normal. These cases were started on thyroxine therapy. Sixty-five of the 81 patients had a mild compensated hypothyroidism with mild TSH elevation (6-10 mU l -1 ). None of the patients had hyperthyroidism. The antithyroid antibodies were positive in the acquired hypothyroidism case.

Conclusion: The prevalence of congenital hypothyroidism was 1.8% in children with Down's syndrome while 25.3% of them had compensated hypothyroidism. It is suggested that Down's syndrome patients with normal thyroid functions and those with compensated hypothyroidism should be followed annually and every 3 mo, respectively. Besides congenital hypothyroidism cases, those with TSH levels between 11 and 20 mU l -1 may benefit from treatment with low-dose thyroxine.     

哮喘患儿长期吸入糖皮质激素对身高的影响

支气管哮喘(哮喘)是儿童最常见的慢性呼吸道疾病。吸入型糖皮质激素( inhaled corticoste-roid,ICS)是目前治疗哮喘最有效的药物,但近来亦有报道长期使用仍会产生一些不利影响。汇总近年来相关文献资料,ICS长期治疗可能会轻度地减缓身高的增长速度,但这种抑制只出现在哮喘治疗早期,并且不影响或仅轻度影响最终身高。 ICS对身高的影响,亦与其使用的种类、剂量和吸入方法相关。     

A case of Down's syndrome associated with progressive extradural neuroblastoma

We describe a case of Down's syndrome associated with progressive extradural neuroblastoma. Postmortem aspiration of the bone marrow revealed diffuse infiltration by tumor cells, in which trisomy 21 was found by fluorescence in hybridization in situ. Accepted: 29 July 1998     

Short- and long-term (final height) data in children with normal variant short stature treated with growth hormone

Seventeen children with normal variant short stature and a predicted height below −2 SDS were treated with growth hormone (GH) six times a week for a period of 5 years. Patients were randomly selected to receive three different doses of GH, group 1 (n=6) 3␣IU/m² per day, group 2 (n=6) 4.5 IU/m² per day and group 3 (n=5) 3 IU/m² per day in the 1st year and 4.5␣IU/m² per day thereafter. There was a significant increase in height after 1 and 2 years for all patients and for all subgroups. However, this increase was not dependent on GH dose. The decrease in height velocity during the 2nd year was not prevented by the increase of GH dose in group 3. The change of predicted height after 2 years was +0.75 SDS (according to Tanner Whitehouse). Fourteen children have been treated for 4␣years and 8 children for 5 years without a further change in height prediction. Nine patients have reached final height which was 2.4 cm (+0.41 SDS) above pretreatment height prediction. Final height was nearly identical to predicted height after 1 year of therapy. Conclusion An increment in height prediction was observed during the first 2 years of GH treatment and maintained thereafter. However, there was only a minor increase in final height over predicted height which does not justify the general use of GH in children with normal variant short stature. Received: 19 December 1996 / Accepted: 21 February 1997     

Congenital duodenal obstruction with Down's syndrome and Hirschsprung's disease

Two rare cases of congenital duodenal obstruction (CDO) with Down's syndrome and Hirschsprung's disease (HD) are reported. The incidence of associated anomalies in CDO, with reference to the literature, and the diagnosis of HD with CDO are discussed. If intestinal dilation or difficulty in defecation persist after CDO has been diagnosed and relieved, then a barium enema should be repeated together with anorectal manometric and rectal mucosal histologic studies in consideration of HD.     

Multicentric study of efficacy and safety of growth hormone use in growth hormone deficient children in India

Growth Hormone being very expensive in India data on use of recombinant human growth hormone (rhGH) is scarce. The authors studied the effect and safety of one year of therapy with rhGH on growth velocity and predicted final height in Indian patients with growth hormone deficiency (GHD). A multicentric, prospective, open trial with rhGH was performed on 15 patients. Patients received rhGH in a dose of 0.7 IU (0.23 mg)/Kg/week. The mean pretreatment height was 111.2cms {SD 12.4}, height velocity was 3.1 cms per year {1.2} and predicted height was 146.5 cms {10.4} at a mean age of 12.0 (2.8). At the end of therapy mean height was 123.4 {11.9}, height velocity was 12.1 cms per year {2.8} and the predicted height was 153.0 cm {9.4}. The increase in predicted height was thus 6.5cm (4.2). The increment in height velocity with growth hormone therapy was statistically significant (p value= 0.001). The present study shows that children with growth hormone deficiency in India also benefit from therapy with rhGH even when treatment is started late as compared to the published Western data and there is a potential for increased final height.     

Immunological and virological investigations in Down's syndrome

Lymphocyte responsiveness to phytohaemagglutinin and viral antigens was studied in children with Down's syndrome and in controls. Mitogen-responsiveness in the patients was significantly reduced as compared to the control values. Using the lymphocyte transformation test, trisomic patients showed more than a twofold increase in sensitivity to herpes simplex virus as compared to controls. The same test did not show any essential difference between the two groups when adeno- and influenza viruses were used. Immunofluorescence technique, with specifically conjugated antiviral sera, permitted the detection of specific fluorescence in 30% of the patients with Down's syndrome indicating the presence of oncogenic adenovirus type 12 antigen in the circulating lymphocytes. No antibodies—or only very low titres—against adeno- and herpes simplex viruses were demonstrated in the sera of trisomic patients. Mononuclear leukocytes from these patients often showed structural alterations. The incidence of infectious herpes simplex virus and Candida albicans in the saliva of patients was higher than in the control group.It seems that Down's syndrome involves partial disturbance of both the cellular and humoral immune functions—at least with respect to certain viral antigens.     

Menarcheal age and growth pattern of Indian girls adopted in Sweden. II. Catch-up growth and final height

Adopted girls (n=107) previously studied regarding menarcheal age in relation to age at arrival, were analysed as to growth pattern and final height related to nutritional status at arrival and menarcheal age. It was found that most girls had catch-up growth regarding height and half of them regarding weight. Faster catch-up and later arrival age in Sweden were associated with earlier menarche. The catch-up growth was, however, incomplete, and lower the initial height for age, lower was the height for age at the succeeding measurements, and the final height. The mean final height was 154 cm, but 8% of the girls were 145 cm or shorter. The data suggest that linear growth and final height is influenced by the preadoptive nutritional condition, as well as by the degree and timing of subsequent catch-up growth, and the timing of puberty. Pubertal onset is related to the degree and timing of catch-up growth.     

唐氏综合征患儿先天性心脏病术后并发症和预后的病例对照研究

目的探讨唐氏综合征(DS)患儿先天性心脏病(先心病)术后的并发症及预后。方法以2009年1月1日至2013年6月30日DS先心病术后患儿为DS组,选择同期非DS先心病术后患儿作为对照组。两组根据先心病类型分别分为简单和复杂型先心病亚组。比较两组患儿临床特征、术后并发症及预后。结果 DS组和对照组分别纳入77例,两组年龄、性别构成、体重和先心病类型差异均无统计学意义。DS组简单先心病亚组46例(59.7%),复杂先心病亚组31例;对照组简单先心病亚组47例(61.0%),复杂先心病亚组30例。DS组机械通气时间和ICU住院时间较对照组明显延长(P均0.05),低心排综合征、再插管、肺部感染和肺动脉高压的发生率较对照组亦明显增高(P均0.05);病死率也高于对照组(6.5%vs 1.3%),但差异无统计学意义(P=0.096)。DS组和对照组简单型先心病亚组并发症发生率及病死率差异均无统计学意义(P均0.05)。DS组复杂型先心病亚组在机械通气时间、ICU住院时间、总住院天数较对照组相应亚组均明显延长,低心排综合征、肺动脉高压和肺部感染的发生率亦明显增高(P均0.05),病死率DS组复杂型先心病亚组有增高趋向(12.9%vs 3.3%,P=0.173)。结论 DS不增加简单型先心病患儿术后并发症和病死率;但增加复杂型先心病术后并发症发生率的风险,有增加病死率的趋向。     

Craniofacial and acral growth responses in growth hormone-deficient children treated with growth hormone

OBJECTIVES: To investigate the effects of growth hormone (GH) therapy on craniofacial growth and body proportions in growth hormone deficient children. STUDY DESIGN: By using a cross-sectional study design, we investigated GH effects on craniofacial growth with photographic facial morphometrics, head circumference, and hand and foot size in 52 children with GH deficiency (GHD) treated with GH (0.27 mg/kg/wk) for 0.19 to 15.5 years, compared with untreated children with GHD and normal first-degree relatives. To detect disproportion and to correct for stature, age and height age (HA) SD scores were analyzed. RESULTS: Untreated subjects with GHD had retarded facial height and width (P values=.001) compared with normal controls; small head circumference for age and HA (P=.001); small hands for age (P<.001) that were large for HA (P=.003); and small feet for age (P<.001) that were normal for HA. When compared with normal controls, GH-treated subjects had proportional facial heights but narrower facial widths. Head circumference, however, increased disproportionately to height (P=.001), becoming large for stature, and increasing with duration of therapy and cumulative GH dose (P<.001). Hands and feet grew proportionately to height. CONCLUSION: Growth hormone treatment with conventional doses partially corrects craniofacial deficits and does not adversely affect hand and foot growth but appears to result in excessive head circumference growth.     

A survey of paediatric management practices in Down's syndrome

Paediatricians throughout Australia and New Zealand completed a questionnaire in which they indicated the type of advice the normally give to parents of children with Down's syndrome. Results indicated strong support for early intervention, discussion with other parents of children with Down's syndrome, and conventional therapy services. Cosmetic surgery appears to be receiving increasing support. Megavitamin therapy, cell therapy and the Doman programme are unsupported. A tendency was noted for paediatricians to underestimate the developmental potential of children with Down's syndrome.     

Evolution of the proportion of patients with Down's syndrome karyotyped in Belgium since 1960

Estimation of the total number of infants with DS born each year in Belgium allows evaluation of changes in the proportion of children with DS in whom a karyotype has been established. This proportion steadily increased to 95% of the children with DS born in 1978.Abbreviations DS Down's syndrome The technical reports published by the Belgian Population and Family Study Centre are available from the authors     

Final height and pubertal growth in Japanese patients with congenital hypothyroidism detected by neonatal screening

Aim: To investigate the final adult heights and pubertal growth patterns in Japanese patients with congenital hypothyroidism (CH) detected by neonatal screening. Methods: A retrospective chart review was conducted of female patients >15 y of age (n = 18) and male patients >18 y of age (n = 9), who were detected by neonatal screening and kept on continuous thyroid hormone replacement therapy. Final height standard deviation scores (FHSDS) and target height standard deviation scores (THSDS) were determined. Parameters characterizing the pubertal growth process (such as age at onset of pubertal growth spurt and age at peak pubertal growth) were obtained from each patient's growth rate chart. Menarchial age was determined in each female patient by reviewing the medical record. The impact on FHSDS of the etiology of CH, the severity of CH, the time of initiation of therapy and the adequacy of treatment during the first year of life was assessed. Results: All patients had received initial thyroid hormone treatment no later than 50 d of age, and had reached their final height. The mean FHSDS for female and male patients were +0.17 ± 0.99 and -0.03 ± 0.99, respectively. The mean FHSDS-THSDS for female and male patients was +0.09 ± 0.77 and -0.19 ± 0.53, respectively. No difference was seen in pubertal growth parameters for either gender compared with that of the reference population, except for a greater peak height velocity and pubertal height gain in male patients. The mean menarchial age was identical to that of the reference population. No significant relationship was found between the FHSDS and any of the factors investigated.

Conclusion: The adult height of patients with CH detected by neonatal screening was equivalent to that of the reference population and their target height. As long as early intervention and satisfactory management are ensured, severe CH does not appear to reduce final adult height.     

Urinary hydroxyproline and glycosaminoglycan excretion in Down's syndrome

Urinary hydroxyproline and glycosaminoglycan excretion rates were found to be significantly lower than normal in 28 infants and children with Down's syndrome. Fractionation of glycosaminoglycans revealed no characteristic pattern.     

The effect of gonadotrophin releasing hormone analogue on height prognosis in growth hormone deficiency and normal puberty

We have treated seven pubertal children, five (three female, two male) with growth hormone deficiency and two (one female, one male) with constitutional short stature with intranasal (D-Serine⁶) gonadotrophin releasing hormone (GnRH) analogue (Buserelin) for a mean of 0.84 years (range, 0.5–1.3). Treatment was successful in arresting pubertal development but there was no improvement in final height prognosis.Abbreviations GnRH gonadotrophin releasing hormone - GH growth hormone     

中国7岁以下儿童正常体重和身高主要参数及估算公式

目的：分析由首都儿科研究所,九市儿童体格发育调查协作组公布的“2005年中国九市7岁以下儿童体格发育调查”数据;探讨我国7岁以下儿童体重和身高（长）增长规律,推算相应的估算公式以帮助儿科医生和医学生熟练掌握儿童生长的重要参数并评估儿童的生长。方法：将儿童体重和身高（长）数据绘制成生长曲线图,按不同年龄段,采用Graphpad Prism 5.0软件进行分析。根据临床需要和应用习惯,大致将其分为：出生后第一个3个月,出生后第二个3个月,出生第一年的后6个月,出生后第二年,以及2~7岁5个年龄段,分别进行分析。结果：我国儿童出生时平均体重3.3 kg,身长50 cm;出生后第一个3个月生长速度最快,每个月体重增长1.0~1.2 kg,身长增长4 cm,3个月时,婴儿平均体重6.6 kg,身长62 cm;第二个3个月生长速度减慢一半,每个月体重增长0.5~0.6 kg,身长增长2 cm;出生6个月后到1周岁又减慢一半,每个月体重增长0.25~0.3 kg,身长增长1 cm,12个月时,平均体重9.9 kg,身长75 cm;出生后第二年,每个月体重增长0.2 kg,身长增长1 cm,2周岁时,平均体重12 kg,身长87 cm。2~7岁时呈匀速增长趋势, 体重估算公式：年龄×2 + 8 （kg）;身高（长）估算公式：年龄×7 + 75 （cm）。结论：我国7岁以下儿童的身高（长）和体重可以分别采用上述参数和公式进行大致推算。［中国当代儿科杂志,2009,11（8）：672-674］     

Development of height and weight in children with diabetes mellitus: Report on two prospective multicentre studies,one cross-sectional,one longitudinal

Optimal regimen for insulin therapy should lead to normal longitudinal growth and weight gain in children with diabetes mellitus. However, reports published so far indicate that this goal of paediatric diabetology is currently not achieved in a considerable number of patients. In a cross-sectional sample of 89 children with insulin dependent diabetes mellitus (IDDM) for more than 3 years, we found the relation of height to weight to be significantly different compared to 102 healthy school children of similar age. Using bivariate analysis, body shape in these children with diabetes was shifted towards small and obese (P<0.05) compared to control children. We subsequently initiated a longitudinal study and followed children from the onset of diabetes for the following 3 years, recording height, weight and bone age as well as glycosylated haemoglobin and daily insulin requirement. At diagnosis, height SDS was identical in children with IDDM (+0.04±0.10) compared to control children (–0.07±0.10; M±SE), while weight SDS was –0.26±0.10 in children with diabetes (controls: +0.01±0.1). Bone age was identically retarded in newly diagnosed IDDM children (–0.73±0.12 SDS) and in our control group of children from the same regional background (–0.50±0.12; n.s.). In this group of children with diabetes mellitus followed prospectively, height to weight relationship differed from controls after 2 and after 3 years of the disease (P<0.05). At 2 years, body size in children with diabetes was shifted towards taller and heavier compared to controls, while at 3 years, the relation of height to weight was even more abnormal with increased obesity but a reduction of standardized height. This is the same relation encountered in the cross-sectional sample of children with a duration of diabetes beyond 3 years. These data demonstrate that even modern insulin therapy does not guarantee normal development of height and weight in children with IDDM.A preliminary report on these data was presented at the ESPE-Meeting at Copenhagen in 1988 (Abstract no. 171).     

A case of Down's syndrome resulting from mirror duplication of chromosome 21

Cytogenetic analysis of a 1-month-old boy with a phenotype similar to that typical for Down's syndrome revealed 46 chromosomes with a mirror duplication of chromosome 21. SOD-1 concentration was increased.