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1.
Cien Saude Colet ; 29(5): e06412023, 2024 May.
Article in English | MEDLINE | ID: mdl-38747768

ABSTRACT

This article aims to present growth curves for height, weight, and BMI of 95,000 Brazilian youths aged 6 to 17 years, including the five regions of the country, the Amazon region, and indigenous populations, and compare them with the World Health Organization (WHO) growth references. The final sample consisted of 52,729 boys and 42,731 girls from the "Projeto Esporte Brasil" database. Body mass and height information were used to derive the curves. The generalized additive model for location, scale, and shape was employed. In this study, we present smoothed weight-for-age, height-for-age, and BMI-for-age curves for boys and girls. Differences were observed between the results of the Brazilian curves and the WHO growth references. The developed curves will be valuable for professionals in medicine, public health, nutrition, physical education, and other related fields, regarding the assessment of physical growth in Brazilian children and adolescents and monitoring the nutritional status of this population. Additionally, these curves will facilitate the identification of individuals or subgroups at risk of diseases and delayed growth, with a greater focus on specific country-related factors.


Subject(s)
Body Height , Body Mass Index , Body Weight , Growth Charts , Humans , Brazil , Adolescent , Child , Male , Female , World Health Organization , Nutritional Status , Reference Values , Age Factors , Databases, Factual
2.
Ital J Pediatr ; 50(1): 89, 2024 Apr 29.
Article in English | MEDLINE | ID: mdl-38679732

ABSTRACT

BACKGROUND: Identifying high-risk neonates with abnormal fetal growth is crucial for health risk prediction and early intervention. Small for gestational age (SGA) and large for gestational age (LGA) classifications highlight neonates having a higher risk for postnatal diseases. Accurate diagnosis depends on precise anthropometric measurements and appropriate reference data. In 2010, specific neonatal charts for Italian singletons (INeS charts) were published, tracing separately for first- and later-born neonates due to a 3% birth weight difference. We present INeS charts for birth weight non-separated by first- and later-born babies useful when information on parity is unavailable or unreliable, or for better comparisons with other neonatal charts that are not separated by birth-order. METHODS: INeS charts were traced using a parametric function. Starting with the parameters estimates published in a different paper, INeS charts not separated by birth order were traced for the gestational age range of 23 to 42 weeks. In a second step the charts were parametrized as Cole and Green Lambda Mu and Sigma (LMS) model, allowing computation of standard deviation scores. RESULTS: The centiles of non-separated INeS charts follow between first- and later-born charts. Distances varied due to changing first-born proportions with gestational age, Max differences of about 100g with later born and 70g with first-born were observed at term. S and L functions have a similar shape for boys and girls. S function shows a pick at about 29 weeks, L function has positive values in all the range of gestational age with a pick at 39 weeks. CONCLUSIONS: The study presents non-separated Birth Weight INeS charts, bridging the gap when parity information is unavailable. Differences with separated charts were generally small, making them reliable for neonatal health assessment. Insights from L and S parameters contribute to standardized birth weight and adjust it by sex and Gestational Age, useful for defining SGA or LGA neonates. The paper enhances neonatal care tools, showcasing INeS chart flexibility in different clinical scenarios and supporting neonatology research.


Subject(s)
Birth Weight , Gestational Age , Humans , Infant, Newborn , Italy , Female , Male , Birth Order , Infant, Small for Gestational Age , Growth Charts , Reference Values
3.
An Pediatr (Engl Ed) ; 100(5): 333-341, 2024 May.
Article in English | MEDLINE | ID: mdl-38653671

ABSTRACT

INTRODUCTION: Our aim was to determine which foetal or neonatal growth curves discriminate the probability of dying of newborns with low birth weight for their gestational age (small for gestational age, SGA) and sex (weight < 10th percentile) and to establish the curves that are presumably most useful for monitoring growth through age 10 years. MATERIAL AND METHODS: The analysis included every neonate (15 122) managed in our hospital (2013-2022) and all neonates born preterm before 32 weeks (6913) registered in the SEN1500 database (2019-2022). We considered most useful those curves with the highest likelihood ratio (LR) for dying with or without a history of SGA in each subgroup of gestational ages. Theoretically, the optimal curves for monitoring growth would be those with a higher R2 in the quantile regression formulas for the 50th percentile. RESULTS: The growth curves exhibiting the strongest association between SGA and hospital mortality are the Intergrowth fetal curves and the Fenton neonatal curves in infants born preterm before 32 weeks. However, the optimal curves for premature babies and neonates overall were those of Olsen and Intergrowth. The most useful curves to monitor anthropometric values alone until age 10 years of age are the longitudinal Intergrowth curves followed by the WHO standards, but if a single reference is desired from birth through age 10 years, the best option is the Fenton curves followed by the WHO standards. CONCLUSIONS: The Intergrowth reference provides the most discriminating foetal growth curves. In neonatal clinical practice, the optimal references are the Fenton followed by the WHO charts.


Subject(s)
Fetal Development , Growth Charts , Infant, Small for Gestational Age , Humans , Infant, Newborn , Female , Male , Fetal Development/physiology , Gestational Age , Infant, Premature/growth & development , Infant , Child , Hospital Mortality , Infant, Low Birth Weight
5.
Arch. argent. pediatr ; 122(2): e202310051, abr. 2024. tab, graf
Article in English, Spanish | LILACS, BINACIS | ID: biblio-1533067

ABSTRACT

Introducción. El tamaño al nacer se encuentra sujeto a influencias genéticas y ambientales; la altura geográfica es muy influyente. El peso al nacer (PN) es el indicador más utilizado para evaluarlo; existen diferentes estándares y referencias. Debido a la variabilidad de la distribución del PN en relación con la altura en la provincia de Jujuy (Argentina), este trabajo analiza la distribución percentilar del PN para tierras altas (TA) y tierras bajas (TB) jujeñas según edad gestacional (EG) y sexo, y su comparación con una referencia nacional y el estándar internacional INTERGROWTH-21st (IG-21). Población y métodos. Se analizaron los registros de 78 524 nacidos vivos en Jujuy en el período 20092014. Utilizando el método LMS, se estimaron los percentiles 3, 10, 50, 90 y 97 de PN/EG por sexo, para TA (≥2000 msnm), TB (<2000 msnm) y el total provincial, y se compararon gráficamente con la referencia poblacional argentina de Urquía y el estándar IG-21. La significación estadística se determinó mediante la prueba de Wilcoxon. Resultados. El PN en Jujuy presentó distribución heterogénea, con diferencias estadísticamente significativas (p <0,05) entre TB y TA. Al comparar con la referencia nacional y el estándar IG-21, se observaron diferencias por altitud, principalmente en los percentiles 90 y 97 para ambas regiones, y en los percentiles 3 y 10 en TA comparados con el estándar. Conclusiones. Se observó variabilidad de la distribución del PN asociada a la altura geográfica, por lo que, para evaluar el crecimiento intrauterino, resulta fundamental incluir la EG y el contexto donde transcurre la gestación.


Introduction. Size at birth is subject to genetic and environmental influences; altitude is highly influential. Birth weight (BW) is the most widely used indicator to assess size at birth; different standards and references are available. Due to the variability in BW distribution in relation to altitude in the province of Jujuy (Argentina), the purpose of this study is to analyze the percentile distribution of BW in the highlands (HL) and the lowlands (LL) of Jujuy based on gestational age (GA) and sex and compare it with a national reference and the INTERGROWTH-21 st (IG-21) international standard. Population and methods. The records of 78 524 live births in Jujuy in the 2009­2014 period were analyzed. Using the LMS method, the 3 rd, 10 th, 50 th, 90 th, and 97 th percentiles of BW/GA by sex were estimated for the HL (≥ 2000 MASL), the LL (< 2000 MASL), and the total for Jujuy, and compared with the Argentine population reference by Urquía and the IG-21 standard using growth charts. The statistical significance was established using the Wilcoxon test. Results. BW in Jujuy showed a heterogeneous distribution, with statistically significant differences (p < 0.05) between the LL and the HL. When compared with the national reference and the IG-21 standard, differences in terms of altitude were observed, mainly in the 90 th and 97 th percentiles for both regions and the 3 rd and 10 th percentiles in the HL compared with the international standard. Conclusions. BW distribution varied in association with altitude; therefore, to assess intrauterine growth, it is critical to include GA and the environment in which the pregnancy takes place.


Subject(s)
Humans , Pregnancy , Infant, Newborn , Altitude , Growth Charts , Reference Values , Birth Weight , Gestational Age
8.
EBioMedicine ; 102: 105061, 2024 Apr.
Article in English | MEDLINE | ID: mdl-38537603

ABSTRACT

BACKGROUND: In children, objective, quantitative tools that determine functional neurodevelopment are scarce and rarely scalable for clinical use. Direct recordings of cortical activity using routinely acquired electroencephalography (EEG) offer reliable measures of brain function. METHODS: We developed and validated a measure of functional brain age (FBA) using a residual neural network-based interpretation of the paediatric EEG. In this cross-sectional study, we included 1056 children with typical development ranging in age from 1 month to 18 years. We analysed a 10- to 15-min segment of 18-channel EEG recorded during light sleep (N1 and N2 states). FINDINGS: The FBA had a weighted mean absolute error (wMAE) of 0.85 years (95% CI: 0.69-1.02; n = 1056). A two-channel version of the FBA had a wMAE of 1.51 years (95% CI: 1.30-1.73; n = 1056) and was validated on an independent set of EEG recordings (wMAE = 2.27 years, 95% CI: 1.90-2.65; n = 723). Group-level maturational delays were also detected in a small cohort of children with Trisomy 21 (Cohen's d = 0.36, p = 0.028). INTERPRETATION: A FBA, based on EEG, is an accurate, practical and scalable automated tool to track brain function maturation throughout childhood with accuracy comparable to widely used physical growth charts. FUNDING: This research was supported by the National Health and Medical Research Council, Australia, Helsinki University Diagnostic Center Research Funds, Finnish Academy, Finnish Paediatric Foundation, and Sigrid Juselius Foundation.


Subject(s)
Brain , Growth Charts , Humans , Child , Adolescent , Cross-Sectional Studies , Neural Networks, Computer , Electroencephalography
9.
Indian Pediatr ; 61(5): 425-434, 2024 May 15.
Article in English | MEDLINE | ID: mdl-38517004

ABSTRACT

OBJECTIVE: We aimed to develop anthropometric growth references for Indian children and adolescents, based on available 'healthy' child data from multiple national surveys. METHODOLOGY: Data on 'healthy' children, defined by comparable WHO's Multicentre Growth Reference Study (MGRS) selection criteria, were extracted from four Indian surveys over the last 2 decades, viz, NFHS-3, 4, and 5 and Comprehensive National Nutrition Survey (CNNS). Reference distributions of height-for-age for children up to 19 years, weight-for-age for children up to 9y, weight-for-height for children less than 5 years and BMI for age for children between 5-19 y were estimated by GAMLSS with Box-Cox Power Exponential (BCPE) family. The national prevalence of growth faltering was also estimated by the NFHS-5 and CNNS data. RESULTS: The distributions of the new proposed Indian growth references are consistently lower than the WHO global standard, except in the first 6 months of age. Based on these references, growth faltering in Indian children and adolescents reduced > 50% in comparison with the WHO standard. CONCLUSION: The study findings revealed that the WHO one-standard-fits-all approach may lead to inflated estimates of under nutrition in India and could be a driver of misdirected policy and public health expenditure in the Indian context. However, these findings need validation through prospective and focussed studies for more robust evidence base.


Subject(s)
Anthropometry , Body Height , Body Weight , Humans , India/epidemiology , Adolescent , Child , Child, Preschool , Infant , Male , Female , Body Height/physiology , Reference Values , Body Weight/physiology , Infant, Newborn , Young Adult , Growth Charts , Child Development/physiology
10.
BMC Med Res Methodol ; 24(1): 38, 2024 Feb 15.
Article in English | MEDLINE | ID: mdl-38360575

ABSTRACT

BACKGROUND: Several strategies for identifying biologically implausible values in longitudinal anthropometric data have recently been proposed, but the suitability of these strategies for large population datasets needs to be better understood. This study evaluated the impact of removing population outliers and the additional value of identifying and removing longitudinal outliers on the trajectories of length/height and weight and on the prevalence of child growth indicators in a large longitudinal dataset of child growth data. METHODS: Length/height and weight measurements of children aged 0 to 59 months from the Brazilian Food and Nutrition Surveillance System were analyzed. Population outliers were identified using z-scores from the World Health Organization (WHO) growth charts. After identifying and removing population outliers, residuals from linear mixed-effects models were used to flag longitudinal outliers. The following cutoffs for residuals were tested to flag those: -3/+3, -4/+4, -5/+5, -6/+6. The selected child growth indicators included length/height-for-age z-scores and weight-for-age z-scores, classified according to the WHO charts. RESULTS: The dataset included 50,154,738 records from 10,775,496 children. Boys and girls had 5.74% and 5.31% of length/height and 5.19% and 4.74% of weight values flagged as population outliers, respectively. After removing those, the percentage of longitudinal outliers varied from 0.02% (<-6/>+6) to 1.47% (<-3/>+3) for length/height and from 0.07 to 1.44% for weight in boys. In girls, the percentage of longitudinal outliers varied from 0.01 to 1.50% for length/height and from 0.08 to 1.45% for weight. The initial removal of population outliers played the most substantial role in the growth trajectories as it was the first step in the cleaning process, while the additional removal of longitudinal outliers had lower influence on those, regardless of the cutoff adopted. The prevalence of the selected indicators were also affected by both population and longitudinal (to a lesser extent) outliers. CONCLUSIONS: Although both population and longitudinal outliers can detect biologically implausible values in child growth data, removing population outliers seemed more relevant in this large administrative dataset, especially in calculating summary statistics. However, both types of outliers need to be identified and removed for the proper evaluation of trajectories.


Subject(s)
Body Height , Growth Charts , Child , Male , Female , Humans , Body Weight , Brazil/epidemiology , Anthropometry
11.
Med Sci Sports Exerc ; 56(6): 1124-1133, 2024 Jun 01.
Article in English | MEDLINE | ID: mdl-38377009

ABSTRACT

PURPOSE: The objective of this study is to evaluate the concordance of predicted maturity status classifications (pre-, circa-, or post-peak height velocity (PHV)) relative to observed age at PHV in youth soccer players. METHODS: Longitudinal height records for 124 male soccer players were extracted from academy records spanning the 2000 to 2022 seasons. Age at PHV for each player was estimated with the Superimposition by Translation and Rotation model. Players were classified as pre-, circa-, or post-PHV using both ±1- and ±0.5-yr criteria to define the circa-PHV interval. Maturity status was estimated with several prediction protocols: maturity offset (Mirwald, Moore-1, Moore-2), maturity ratio (Fransen), and percentage of predicted adult height (PAH%) using the Khamis-Roche and Tanner-Whitehouse 2 equations using several bands: 85% to 96%, 88% to 96%, 88% to 93%, and 90% to 93% for the circa-PHV interval, and visual evaluation of individual growth curves alone or with PAH% based on Khamis-Roche and Tanner-Whitehouse 2. Concordance of maturity status classifications based on complete growth curves and predicted estimates of maturity status was addressed with percentage agreement and Cohen's kappa. RESULTS: Visual evaluation of the growth curves had the highest concordance (≈80%) with maturity status classifications (pre-, circa-, post-PHV) based on longitudinal data for individual players. Predicted maturity offset with the Mirwald, Moore-1, and Fransen equations misclassified about one-third to one-half of the players, whereas concordance based on PAH% varied with the band used, but not with the method of height prediction. CONCLUSIONS: Visual assessment of the individual growth curves by an experienced assessor provides an accurate estimate of maturity status relative to PHV. Maturity offset prediction equations misclassify the majority of players, whereas PAH% provides a reasonably valid alternative.


Subject(s)
Body Height , Soccer , Soccer/physiology , Humans , Adolescent , Male , Longitudinal Studies , Child , Adolescent Development/physiology , Growth Charts
12.
Fetal Pediatr Pathol ; 43(3): 198-207, 2024.
Article in English | MEDLINE | ID: mdl-38186330

ABSTRACT

Background: Accurate identification of fetal growth restriction in fetal autopsy is critical for assessing causes of death. We examined the impact of using a chart derived from ultrasound measurements of healthy fetuses (World Health Organization fetal growth chart) versus a chart commonly used by pathologists (Archie et al.) derived from fetal autopsy-based populations in diagnosing small-for-gestational-age (SGA) birth in perinatal deaths. Study Design: We examined perinatal deaths that underwent autopsy at BC Women's Hospital, 2015-2021. Weight centiles were assigned using the ultrasound-based fetal growth chart for birthweight and autopsy-based growth chart for autopsy weight. Results: Among 352 fetuses, 30% were SGA based on the ultrasound-based fetal growth chart versus 17% using the autopsy-based growth chart (p < 0.001). Weight centiles were lower when using the ultrasound-based versus autopsy-based growth chart (median difference of 9 centiles [IQR 2, 20]). Conclusions: Autopsy-based growth charts may under-classify SGA status compared to ultrasound-based fetal growth charts.


Subject(s)
Autopsy , Fetal Growth Retardation , Growth Charts , Infant, Small for Gestational Age , Humans , Fetal Growth Retardation/diagnosis , Fetal Growth Retardation/pathology , Autopsy/methods , Female , Infant, Newborn , Pregnancy , Ultrasonography, Prenatal/methods , Fetal Development/physiology , Gestational Age , Birth Weight
13.
J Pediatr (Rio J) ; 100(3): 277-282, 2024.
Article in English | MEDLINE | ID: mdl-38182127

ABSTRACT

OBJECTIVE: To develop growth charts for weight-for-age, height-for-age, and body mass index (BMI)-for-age for both genders aged 2 to 18 years for Brazilian patients with Williams-Beuren Syndrome (WBS). METHODS: This is a multicenter, retrospective, and longitudinal study, data were collected from the medical records of boys and girls with a confirmed diagnosis of WBS in three large university centers in the state of Sao Paulo, Brazil. Growth charts stratified by gender and age in years were developed using LMSchartmaker Pro software. The LMS (Lambda Mu Sigma) method was used to model the charts . The quality of the settings was checked by worm plots. RESULTS: The first Brazilian growth charts for weight-for-age, height-for-age, and BMI-for-age stratified by gender were constructed for WBS patients aged 2 to 18 years. CONCLUSION: The growth charts developed in this study can help to guide family members and to improve the health care offered by health professionals.


Subject(s)
Body Height , Body Mass Index , Body Weight , Growth Charts , Williams Syndrome , Humans , Williams Syndrome/diagnosis , Male , Adolescent , Female , Child, Preschool , Brazil/epidemiology , Child , Body Height/physiology , Retrospective Studies , Longitudinal Studies , Reference Values , Sex Factors , Age Factors
14.
Clin Genet ; 105(5): 533-542, 2024 05.
Article in English | MEDLINE | ID: mdl-38265109

ABSTRACT

Beckwith-Wiedemann syndrome (BWS) is an epigenetic overgrowth syndrome. Despite its distinctive growth pattern, the detailed growth trajectories of children with BWS remain largely unknown. We retrospectively analyzed 413 anthropometric measurements over an average of 4.4 years of follow-up in 51 children with BWS. We constructed sex-specific percentile curves for height, weight, and head circumference using a generalized additive model for location, scale, and shape. Males with BWS exhibited greater height at all ages evaluated, weight before the age of 10, and head circumference before the age of 9 than those of the general population. Females with BWS showed greater height before the age of 7, weight before the age of 4.5, and head circumference before the age of 7 than those of the general population. At the latest follow-up visit at a mean 8.4 years of age, bone age was significantly higher than chronological age. Compared to paternal uniparental disomy (pUPD), males with imprinting center region 2-loss of methylation (IC2-LOM) had higher standard deviation score (SDS) for height and weight, while females with IC2-LOM showed larger SDS for head circumference. These disease-specific growth charts can serve as valuable tools for clinical monitoring of children with BWS.


Subject(s)
Beckwith-Wiedemann Syndrome , Male , Child , Female , Humans , Beckwith-Wiedemann Syndrome/diagnosis , Beckwith-Wiedemann Syndrome/genetics , DNA Methylation/genetics , Genomic Imprinting , Retrospective Studies , Growth Charts , Growth Disorders , Republic of Korea/epidemiology
15.
Am J Obstet Gynecol MFM ; 6(1): 101220, 2024 Jan.
Article in English | MEDLINE | ID: mdl-37944667

ABSTRACT

BACKGROUND: The Society for Maternal-Fetal Medicine recommends defining fetal growth restriction as an estimated fetal weight or abdominal circumference <10th percentile of a population-based reference. However, because multiple references are available, an understanding of their ability to identify infants at increased risk due to fetal growth restriction is critical. Previous studies have focused on the ability of different population references to identify short-term outcomes, but fetal growth restriction also has longer-term consequences for child development. OBJECTIVE: This study aimed to estimate the association between estimated fetal weight percentiles on the INTERGROWTH-21st and World Health Organization fetal growth charts and kindergarten-age childhood development, and establish the charts' discriminatory ability in predicting kindergarten-age developmental challenges. STUDY DESIGN: We conducted a retrospective cohort study linking obstetrical ultrasound scans conducted at BC Women's Hospital, Vancouver, Canada, with population-based standardized kindergarten test results. The cohort was limited to nonanomalous, singleton fetuses scanned at ≥28 weeks' gestation from 2000 to 2011, with follow-up until 2017. We classified estimated fetal weight into percentiles using the INTERGROWTH-21st and World Health Organization charts. We used generalized additive modeling to link estimated fetal weight percentile with routine province-wide kindergarten readiness test results. We calculated the area under the receiver-operating characteristic curve and other measures of diagnostic accuracy with 95% confidence intervals at select percentile cut-points of the charts. We repeated analyses using the Hadlock chart to help contextualize findings. The main outcome measure was the total Early Development Instrument score (/50). Secondary outcomes were Early Development Instrument subdomain scores for language and cognitive development, and for communication skills and general knowledge, as well as designation of "developmentally vulnerable" or "special needs". RESULTS: Among 3418 eligible fetuses, those with lower estimated fetal weight percentiles had systematically lower Early Development Instrument scores and increased risks of developmental vulnerability. However, the clinical significance of differences was modest in magnitude (eg, total Early Development Instrument score -2.8 [95% confidence interval, -5.1 to -0.5] in children with an estimated fetal weight in 3rd-9th percentile of INTERGROWTH-21st chart [vs reference of 31st-90th]). The charts' predictive abilities for adverse child development were limited (eg, area under the receiver-operating characteristic curve <0.53 for all 3 charts). CONCLUSION: Lower estimated fetal weight percentiles on the INTERGROWTH-21st and World Health Organization charts indicate increased risks of adverse kindergarten-age child development at the population level, but are not accurate individual-level predictors of adverse child development.


Subject(s)
Fetal Growth Retardation , Fetal Weight , Pregnancy , Infant , Child , Humans , Female , Fetal Growth Retardation/diagnosis , Fetal Growth Retardation/epidemiology , Cohort Studies , Growth Charts , Retrospective Studies
16.
Clin Pediatr (Phila) ; 63(4): 541-550, 2024 May.
Article in English | MEDLINE | ID: mdl-37382242

ABSTRACT

Children with arthrogryposis multiplex congenita (AMC) often demonstrate growth differences compared with typically developing (TD) children. However, growth charts have not been developed for this population. The purpose of this study was to create AMC-specific growth charts and to compare these values to those of TD children. A retrospective review of height/length and weight for 206 children with AMC was performed. Growth charts were developed and stratified over seven percentiles; these were then compared with growth charts of TD children. Children with AMC tend to be smaller in stature and weight compared with TD children, particularly in the first 36 months of life. Thereafter, weight values trend toward the 50th percentile of TD children, but height/length values persist around the 5th percentile of TD children. The development of AMC-specific growth charts provides health care providers an objective tool to evaluate growth patterns of patients with AMC.


Subject(s)
Arthrogryposis , Child , Humans , Arthrogryposis/diagnosis , Growth Charts , Retrospective Studies , Body Height
17.
Am J Med Genet A ; 194(1): 9-16, 2024 Jan.
Article in English | MEDLINE | ID: mdl-37740550

ABSTRACT

DYRK1A Syndrome (OMIM #614104) is caused by pathogenic variations in the DYRK1A gene located on 21q22. Haploinsufficiency of DYRK1A causes a syndrome with global psychomotor delay and intellectual disability. Low birth weight, growth restriction with feeding difficulties, stature insufficiency, and microcephaly are frequently reported. This study aims to create specific growth charts for individuals with DYRK1A Syndrome and identify parameters for size prognosis. Growth parameters were obtained for 92 individuals with DYRK1A Syndrome (49 males vs. 43 females). The data were obtained from pediatric records, parent reporting, and scientific literature. Growth charts for height, weight, body mass index (BMI), and occipitofrontal circumference (OFC) were generated using generalized additive models through R package gamlss. The growth curves include height, weight, and OFC measurements for patients aged 0-5 years. In accordance with the literature, the charts show that individuals are more likely to present intrauterine growth restriction with low birth weight and microcephaly. The growth is then characterized by severe microcephaly, low weight, and short stature. This study proposes growth charts for widespread use in the management of patients with DYRK1A syndrome.


Subject(s)
Intellectual Disability , Microcephaly , Male , Female , Child , Humans , Microcephaly/diagnosis , Microcephaly/genetics , Growth Charts , Intellectual Disability/diagnosis , Intellectual Disability/genetics , Syndrome , Body Mass Index , Body Height/genetics
18.
Arch Dis Child ; 109(2): 78-82, 2024 01 22.
Article in English | MEDLINE | ID: mdl-37463736

ABSTRACT

Growth charts have played an integral part in the monitoring and assessment of children's health for the past 50 years, but their use is now under threat as paperless electronic systems become more widely used. While the obvious solution is to adopt electronic charting systems, this can prove challenging in practice. This article describes the key issues to consider in planning this transition and the charting options available, ranging from bespoke local systems to commercial packages and a new initiative by the Royal College of Paediatrics and Child Health.


Subject(s)
Child Health , Growth Charts , Child , Humans , United Kingdom
19.
Am J Med Genet A ; 194(2): 243-252, 2024 Feb.
Article in English | MEDLINE | ID: mdl-37814549

ABSTRACT

Hypochondroplasia (HCH) is a rare skeletal dysplasia causing mild short stature. There is a paucity of growth reference charts for this population. Anthropometric data were collected to generate height, weight, and head circumference (HC) growth reference charts for children with a diagnosis of HCH. Mixed longitudinal anthropometric data and genetic analysis results were collected from 14 European specialized skeletal dysplasia centers. Growth charts were generated using Generalized Additive Models for Location, Scale, and Shape. Measurements for height (983), weight (896), and HC (389) were collected from 188 (79 female) children with a diagnosis of HCH aged 0-18 years. Of the 84 children who underwent genetic testing, a pathogenic variant in FGFR3 was identified in 92% (77). The data were used to generate growth references for height, weight, and HC, plotted as charts with seven centiles from 2nd to 98th, for ages 0-4 and 0-16 years. HCH-specific growth charts are important in the clinical care of these children. They help to identify if other comorbidities are present that affect growth and development and serve as an important benchmark for any prospective interventional research studies and trials.


Subject(s)
Bone and Bones/abnormalities , Dwarfism , Limb Deformities, Congenital , Lordosis , Osteochondrodysplasias , Child , Humans , Female , Growth Charts , Prospective Studies , Body Height/genetics , Dwarfism/diagnosis , Dwarfism/genetics , Reference Values
20.
Arch Argent Pediatr ; 122(2): e202310051, 2024 04 01.
Article in English, Spanish | MEDLINE | ID: mdl-37801682

ABSTRACT

Introduction. Size at birth is subject to genetic and environmental influences; altitude is highly influential. Birth weight (BW) is the most widely used indicator to assess size at birth; different standards and references are available. Due to the variability in BW distribution in relation to altitude in the province of Jujuy (Argentina), the purpose of this study is to analyze the percentile distribution of BW in the highlands (HL) and the lowlands (LL) of Jujuy based on gestational age (GA) and sex and compare it with a national reference and the INTERGROWTH-21st (IG-21) international standard. Population and methods. The records of 78 524 live births in Jujuy in the 2009-2014 period were analyzed. Using the LMS method, the 3rd, 10th, 50th, 90th, and 97th percentiles of BW/GA by sex were estimated for the HL (≥ 2000 MASL), the LL (< 2000 MASL), and the total for Jujuy, and compared with the Argentine population reference by Urquía and the IG-21 standard using growth charts. The statistical significance was established using the Wilcoxon test. Results. BW in Jujuy showed a heterogeneous distribution, with statistically significant differences (p < 0.05) between the LL and the HL. When compared with the national reference and the IG-21 standard, differences in terms of altitude were observed, mainly in the 90th and 97th percentiles for both regions and the 3rd and 10th percentiles in the HL compared with the international standard. Conclusions. BW distribution varied in association with altitude; therefore, to assess intrauterine growth, it is critical to include GA and the environment in which the pregnancy takes place.


Introducción. El tamaño al nacer se encuentra sujeto a influencias genéticas y ambientales; la altura geográfica es muy influyente. El peso al nacer (PN) es el indicador más utilizado para evaluarlo; existen diferentes estándares y referencias. Debido a la variabilidad de la distribución del PN en relación con la altura en la provincia de Jujuy (Argentina), este trabajo analiza la distribución percentilar del PN para tierras altas (TA) y tierras bajas (TB) jujeñas según edad gestacional (EG) y sexo, y su comparación con una referencia nacional y el estándar internacional INTERGROWTH-21st (IG-21). Población y métodos. Se analizaron los registros de 78 524 nacidos vivos en Jujuy en el período 2009-2014. Utilizando el método LMS, se estimaron los percentiles 3, 10, 50, 90 y 97 de PN/EG por sexo, para TA (≥2000 msnm), TB (<2000 msnm) y el total provincial, y se compararon gráficamente con la referencia poblacional argentina de Urquía y el estándar IG-21. La significación estadística se determinó mediante la prueba de Wilcoxon. Resultados. El PN en Jujuy presentó distribución heterogénea, con diferencias estadísticamente significativas (p <0,05) entre TB y TA. Al comparar con la referencia nacional y el estándar IG-21, se observaron diferencias por altitud, principalmente en los percentiles 90 y 97 para ambas regiones, y en los percentiles 3 y 10 en TA comparados con el estándar. Conclusiones. Se observó variabilidad de la distribución del PN asociada a la altura geográfica, por lo que, para evaluar el crecimiento intrauterino, resulta fundamental incluir la EG y el contexto donde transcurre la gestación.


Subject(s)
Altitude , Growth Charts , Infant, Newborn , Pregnancy , Female , Humans , Birth Weight , Argentina/epidemiology , Gestational Age , Reference Values
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