Development and validation of a mobile application for point of care evaluation of growth failure

Author(s):  
Riddhi V. Patel ◽  
Anurag T. Bajpai ◽  
Hemangkumar V. Mendpara ◽  
Chetankumar C. Dave ◽  
Sajili S. Mehta ◽  
...  

Abstract Objectives Lack of systematic evaluation of short stature results in unnecessary work-up on one hand while missing pathology on the other. We have developed a mobile application that guides work-up based on age, auxology (height, BMI, and corrected standard deviation score), and skeletal maturation with an aim of reducing the diagnostic errors. Aim of this study is to develop and validate a mobile application for point of care evaluation of short stature. Methods The application was developed (n=400) and validated (n=412) on children and adolescents (2–18 years of age) presenting to our Pediatric Endocrinology Clinic with short stature. Height standard deviation score thresholds determining the need for workup were derived from Receiver Operating Characteristics (ROC) curve. Student’s t-test and ROC curves were used to identify the most appropriate parameter differentiating constitutional delay of growth and puberty (CDGP) from pathological and nutritional from endocrine causes. The validation of the application involved comparing the application predicted and clinical diagnosis at each step of the algorithm. Results The mobile application diagnosis was concordant with clinical diagnosis in 408 (99.0%) with discordance in four (two with CDGP labeled as growth hormone deficiency [GHD] and two with GHD labeled as CDGP). Conclusions Mobile application guided short stature assessment has a high concordance with the clinical diagnosis and is expected to help point of care short stature evaluation.

2013 ◽  
Vol 141 (3-4) ◽  
pp. 256-261 ◽  
Author(s):  
Jovan Vlaski ◽  
Dragan Katanic ◽  
Jadranka Jovanovic-Privrodski ◽  
Ivana Kavecan ◽  
Ivana Vorgucin ◽  
...  

Growth is a complex process and the basic characteristic of child- hood growth monitoring provides insight into the physiological and pathological events in the body. Statistically, the short stature means departure from the values of height for age and sex (in a particular environment), which is below -2 standard deviation score, or less than -2 standard deviation, i.e. below the third percentile. Advances in molecular genetics have contributed to the improvement of diagnostics in endocrinology. Analysis of patients? genotypes should not be performed before taking a classical history, detailed clinical examination and appropriate tests. In patients with idiopathic short stature specific causes are excluded, such as growth hormone deficiency, Turner syndrome, short stature due to low birth weight, intrauterine growth retardation, small for gestational age, dysmorphology syndromes and chronic childhood diseases. The exclusion of abovementioned conditions leaves a large number of children with short stature whose etiology includes patients with genetic short stature or familial short stature and those who are low in relation to genetic potential, and who could also have some unrecognized endocrine defect. Idiopathic short stature represents a short stature of unknown cause of heterogeneous etiology, and is characterized by a normal response of growth hormone during stimulation tests (>10 ng/ml or 20 mJ/l), without other disorders, of normal body mass and length at birth. In idiopathic short stature standard deviation score rates <-2.25 (-2 to -3) or <1.2 percentile. These are also criteria for the initiation of growth hormone therapy. In children with short stature there is also the presence of psychological and social suffering. Goals of treatment with growth hormone involve achieving normal height and normal growth rate during childhood.


2020 ◽  
Vol 26 (11) ◽  
pp. 1255-1268
Author(s):  
Hanting Liang ◽  
Hui Miao ◽  
Hui Pan ◽  
Hongbo Yang ◽  
Fengying Gong ◽  
...  

Objective: There are numerous reasons for short stature, including mutations in osteochondral development genes. ACAN, one such osteochondral development gene in which heterozygous mutations can cause short stature, has attracted attention from researchers in recent years. Therefore, we analyzed six cases of short stature with heterozygous ACAN mutations and performed a literature review. Methods: Clinical information and blood samples from 6 probands and their family members were collected after consent forms were signed. Gene mutations in the probands were detected by whole-exome sequencing. Then, we searched the literature, performed statistical analyses, and summarized the characteristics of all reported cases. Results: We identified six novel mutations in ACAN: c.1411C>T, c.1817C>A, c.1762C>T, c.2266G>C, c.7469G>A, and c.1733-1G>A. In the literature, more than 200 affected individuals have been diagnosed genetically with a similar condition (height standard deviation score [SDS] −3.14 ± 1.15). Among affected individuals receiving growth-promoting treatment, their height before and after treatment was SDS −2.92 ± 1.07 versus SDS −2.14 ± 1.23 ( P<.001). As of July 1, 2019, a total of 57 heterozygous ACAN mutations causing nonsyndromic short stature had been reported, including the six novel mutations found in our study. Approximately half of these mutations can lead to protein truncation. Conclusion: This study used clinical and genetic means to examine the relationship between the ACAN gene and short stature. To some extent, clear diagnosis is difficult, since most of these affected individuals’ characteristics are not prominent. Growth-promoting therapies may be beneficial for increasing the height of affected patients. Abbreviations: AI = aromatase inhibitor; ECM = extracellular matrix; GnRHa = gonadotropin-releasing hormone analogue; IQR = interquartile range; MIM = Mendelian Inheritance in Man; PGHD = partial growth hormone deficiency; rhGH = recombinant human growth hormone; SDS = standard deviation score; SGA = small for gestational age; SGHD = severe growth hormone deficiency


1995 ◽  
Vol 2 (3) ◽  
pp. 140-144 ◽  
Author(s):  
E White ◽  
A Wilson ◽  
S A Greene ◽  
W Berry ◽  
C McCowan ◽  
...  

Objectives — To assess the effect of urban deprivation on childhood growth in a modern British society by analysing data from a regional growth survey, the Tayside growth study. Setting — The Tayside Region in Scotland, which has three districts with distinct socioeconomic status: Dundee (D, urban city), Angus (A, rural), and Perth (P, rural and county town). Subjects and methods — Height and weight of 23 046 children (>90% of the regional childhood population) were measured as part of a child health surveillance programme, by community health care workers at 3, 5, 7, 9, 11, and 14 years. Height standard deviation score (calculated against Tanner) and body mass index (BMI-weight (kg)/height (m)2) were calculated for each child by a central computer program; mean height standard deviation score and BMI standard deviation score were calculated for each measuring centre (school, health clinic). A deprivation score for each centre was calculated from the prevalence of single parent families; families with more than three children; unemployment rate; the number of social class V individuals; the percentage of council houses. Results — Mean height standard deviation score for Tayside was 0·11. An intra-regional difference was demonstrated: mean height standard deviation score (SD) D = 0·04 (1·0); A = 0·14 (1·1); P = 0·21 (1·1); P<0·002. There was a positive association between short stature and increasing social deprivation seen throughout Tayside (P<0·05), with a strong association in Dundee primary school children (r = 0·6; P<0·001). Analysis by district showed that the association was significant only above the age of 8 (P<0·004). There was no relation between BMI and social deprivation. Conclusions — In an industrialised developed society, urban deprivation appears to influence height mostly in late childhood, and this association should be taken into consideration in the clinical management of short stature. Height seems to be a better physical indicator of urban deprivation, and hence an index of childhood health, than BMI.


Author(s):  
Primus E. Mullis

The term tall stature simply means that the child’s height is above the 97th percentile (corresponding to a standard deviation score (SDS) of +1.88). It says nothing about the underlying cause and is not itself a growth abnormality; indeed, most children with tall stature are normal. Although as many children have heights greater than 2 SD above the mean as have heights greater than 2 SD below the mean, tall stature in childhood usually generates less anxiety than shortness and, therefore, referral for tall stature is less common than it is for short stature.


Author(s):  
Ashraf Soliman ◽  
Alan D. Rogol ◽  
Sohair Elsiddig ◽  
Ahmed Khalil ◽  
Nada Alaaraj ◽  
...  

Abstract Objectives Some idiopathic short stature (ISS) patients may have varying degrees of insulin-like growth factor 1 (IGFI) deficiency. Others with growth hormone deficiency (GHD) (peak GH < 7 ng/dL after provocation) have normal IGFI levels. Do children with ISS or those with GHD with variable pretreatment IGFI standard deviation score (IGFISDS) have different IGFI and growth responses to recombinant human growth hormone (rhGH) therapy? Methods We studied the effect of GH therapy (0.035–0.06 mg/kg/day) on linear growth and weight gain per day (WGPD) in children with ISS (n=13) and those with GHD (n=10) who have low pretreatment IGFISDS (IGF SDS < −1.5) and compared them with age-matched prepubertal children with ISS (n=10) and GHD (n=17) who had normal pretreatment IGFISDS. An untreated group of children with ISS (n=12) served as a control group. Results At presentation, the height standard deviation score (HtSDS) of children with ISS who had low pretreatment IGFISDS was significantly lower compared to the normal IGFI group. The age, body mass index (BMI), BMISDS, peak GH response to clonidine provocation and bone age did not differ between the two study groups. After 1 year of treatment with rhGH (0.035–0.06 mg/kg/day) IGFISDS increased significantly in both groups (p<0.05). Both had significantly increased HtSDS (catch-up growth). The increase in the HtSDS and WGPD were significantly greater in the lower pretreatment IGFISDS group. The IGFSDS, BMISDS, HtSDS and difference between HtSDS and mid-parental HtSDS were significantly greater in the rhGH treated groups vs. the not treated group. In the GHD groups (normal and low IGFISDS), after 1 year of GH therapy (0.03–0.05 mg/kg/day), the HtSDS increased significantly in both, (p<0.01). The WGPD and increment in BMI were significantly greater in children who had low pretreatment IGFISDS. There was a significant increase in the IGFSDS in the two treated groups (p<0.05), however, the WGPD was greater in the pretreatment low IGFISDS. Conclusions IGFI deficiency represents a low anabolic state. Correction of IGFI level (through rhGH and/or improved nutrition) in short children (ISS and GHD) was associated with increased linear growth and WGPD denoting significant effect on bone growth and muscle protein accretion.


Author(s):  
Wilfried Pott ◽  
Georg Fröhlich ◽  
Özgür Albayrak ◽  
Johannes Hebebrand ◽  
Ursula Pauli-Pott

Fragestellung: Es wurde der Frage nachgegangen, ob sich erfolgreiche Teilnehmer eines ambulanten familienzentrierten Gewichtskontrollprogramms durch spezifische familiäre und psychologische Charakteristiken auszeichnen. Einbezogen wurden die psychosoziale Risikobelastung der Familie, Depressivität und Bindungsstil der Hauptbezugsperson, der Body mass index (BMI) und der BMI-Standardabweichungswert («Standard deviation score», SDS) des teilnehmenden Kindes und der Familienmitglieder sowie die individuelle psychische Belastung des teilnehmenden Kindes. Methodik: Die Daten wurden per Interview und Fragebogen vor dem Behandlungsbeginn erhoben. Von 136 in das Programm aufgenommenen übergewichtigen und adipösen Kindern zwischen 7 und 15 Jahren beendeten 116 das 12-monatige Interventionsprogramm. Von diesen zeigten 100 (85,3 %) eine Reduktion des BMI-SDS und 79 (68.1 %) eine mehr als 5 %ige Reduktion des BMI-SDS. Diese «erfolgreichen» Kinder wurden mit 56 «nicht erfolgreichen» (Abbrecher und Kinder mit einer 5 %igen oder geringeren Reduktion des BMI-SDS) verglichen. Ergebnisse: Nicht erfolgreiche Kinder unterschieden sich von den erfolgreichen durch ein höheres Alter, eine höhere psychosoziale Risikobelastung, Depressivität und einen vermeidenden Bindungsstil der Mutter sowie durch das Vorhandensein adipöser Geschwister. In einer logistischen Regressionsanalyse zeigten sich mütterliche Depressivität und das Vorhandensein adipöser Geschwister als beste und voneinander unabhängige Prädiktoren. Schlussfolgerungen: Um die spezifischen Bedürfnisse der Familien zu erfüllen und einen Misserfolg zu verhindern, sollten zusätzliche Programmbausteine zur spezifischen Unterstützung von Jugendlichen mit adipösen Geschwistern und Müttern mit Depressionen und vermeidenden Bindungsstil entwickelt werden. Die Wirksamkeit dieser Module muss dann in weiteren Studien überprüft werden.


1979 ◽  
Vol 41 (02) ◽  
pp. 286-290 ◽  
Author(s):  
J L Bem ◽  
M J Painter ◽  
A Aronstam ◽  
J H Patrick ◽  
R E Newcombe

SummaryThe relation between the height of adolescent haemophiliacs and their bleeding frequency has been studied. 45 haemophiliacs aged 10-19 years were divided into 3 groups: small, medium and tall, using a Height Standard Deviation Score. The average bleeding frequency per 100 days in the group of small haemophiliacs was 8.71 ± SD 4.47, in the medium height group 10.18 ± SD 6.71, while the tall individuals bled in average 15.97 ± SD 3.15 every 100 days. There was no relationship between age and bleeding frequency.


2021 ◽  
Vol 20 (1) ◽  
Author(s):  
Yuntian Chu ◽  
Qianqian Zhao ◽  
Mei Zhang ◽  
Bo Ban ◽  
Hongbing Tao

Abstract Background Elevated triglyceride (TG) levels are a biomarker for cardiovascular disease (CVD) risk. The correlation between serum uric acid (SUA) and TG concentrations in adults or obese children is well established. However, studies on SUA and TG in children with short stature are limited. Aim To determine the relationship between SUA and TG levels in short children and adolescents. Method This was a cross-sectional evaluation of a cohort of 1095 patients with short stature (720 males and 375 females). The related clinical characteristics, including anthropometric and biochemical parameters, were determined. Results Smooth curve fitting, adjusted for potential confounders was performed, which indicated the existence of a non-linear relationship between these measures. Piecewise multivariate linear analysis revealed a significant positive relationship between SUA and TG at SUA concentrations over 7 mg/dL (β = 0.13, 95% CI: 0.05–0.22, P = 0.002) but no significant correlation at lower SUA levels (β = 0.01, 95% CI: 0.01–0.04, P = 0.799). Furthermore, a stratified analysis was performed to appraise changes in this relationship for different sexes and standard deviation levels of body mass index (BMI). The non-linear relationship remained consistent in males and females with BMI standard deviation scores (BMI SDS) ≥ 0, with inflection points of 6.71 mg/dL and 3.93 mg/dL, respectively. Within these two groups, SUA and TG levels showed a positive association when SUA levels were higher than the inflection point (β = 0.21, 95% CI: 0.11–0.31, P < 0.001 for males and β = 0.1, 95% CI: 0.03–0.17, P = 0.005 for females). However, a specific relationship was not observed at lower SUA levels. No significant relationships were found between SUA and TG levels in males and females with BMI SDS < 0. Conclusion The present study identified the non-linear association of SUA and TG levels with short children and adolescents. This relationship was based on BMI status. This finding suggests that health status should be considered for short stature children with high SUA levels, especially in children with a high BMI standard deviation score.


1989 ◽  
Vol 120 (4) ◽  
pp. 409-415 ◽  
Author(s):  
Itsuro Hibi ◽  
Toshiaki Tanaka ◽  
_ _

Abstract. One hundred and 8 patients with idiopathic growth hormone deficiency with spontaneous pubertal maturation (group A), were followed until they reached their final height after hGH treatment lasting between 2 and 11.1 (average 5.5) years. Their standard deviation scores of final height averaged 3.3 sd below the population mean, which was significantly lower than 1.1 standard deviation below the mean in 29 GH deficient patients without spontaneous puberty (group B) who were treated with hGH and sex hormones. The presence of gonadal function was found to be unbeneficial for final height. The final height of the patients in both groups was not related to either 1) age at the start of hGH treatment, 2) age at the onset of puberty, or 3) the duration of hGH treatment. It was, however, significantly related to the standard deviation score of height at the start of hGH treatment in both groups and to that of height at the onset of puberty in group A. The findings demonstrated that earlier introduction of hGH treatment resulted in earlier onset of puberty in group A, because the chronological age at the onset of puberty was positively correlated to the chronological age at the start of hGH treatment. It was also confirmed that the later puberty began, the taller the final height in GH deficient patients who had the same degree of standard deviation score of height for chronological age before puberty.


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