Growth curves in untreated Ullrich-Turner syndrome: French reference standards 1-22 years

Sempé, M.; Bondallaz, C. Hansson; Limoni, Costanzo

doi:10.1007/bf02282835

Cited by 35 publications

(18 citation statements)

References 15 publications

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“…Although NF1 is a frequent genetic disorder and many NF1 clinics are specifically devoted to it, no data on auxological patterns of NF1 subjects are presently available, whereas growth charts for clinical use have been traced for less frequent diseases like achondroplasia [Horton et al, 1978], hypochondroplasia [Appan et al, 1990], Williams syndrome [Morris et al, 1988], Rubinstein-Taybi syndrome , and Ullrich-Turner syndrome [Bernasconi et al, 1994;Sempé et al, 1996]. Actually, when growth disturbances are part of a disease, disease-specific growth charts are useful to define the main differences in the growth profile from the healthy population to understand the pathogenesis of the condition and to make the occurrence of a secondary growth disorder clearly detectable [Ranke, 1989].…”

Section: Discussionmentioning

confidence: 99%

Neurofibromatosis type 1 growth charts

et al. 1999

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Growth abnormalities such as macrocephaly and short stature have been described and are considered a consistent finding in neurofibromatosis type 1 (NF1), one of the most common autosomal dominant disorders in man. We present here a clinical study on the growth profile of a sample of NF1 patients collected through a population-based registry that covers three contiguous regions of North-East Italy (NEI-NF Registry). Auxometric traits of 528 NF1 patients have been measured with the aim of drawing growth charts for height, weight, and head circumference (OFC). Height velocity charts were based on a subset of 143 children who underwent multiple measurements. No differences in height were apparent between NF1 and normal subjects up to age 7 (girls) and 12 (boys) years; subsequently, the 50th centile of NF1 subjects tends to overlap with the 25th centile of normal subjects, and the 3rd centile is much lower in NF1 subjects than in normal subjects, mainly during adolescence. The negatively skewed distribution of height seems to indicate that height growth impairment affects only a proportion of NF1 subjects; height growth impairment does not seem related to disease severity. As for weight, our data suggest that slight overweight is a characteristic of adult NF1 subjects (mainly among males), independent of disease severity. Height growth velocity is normal during childhood for both sexes, whereas the pubertal spurt is slightly anticipated and reduced in NF1 boys but not in girls. Our data confirm previous observations that macrocrania affects most NF1 subjects; the shape of the head growth curve is similar in NF1 and normal girls, whereas NF1 boys present an OFC pubertal growth spurt much more pronounced and delayed than normal boys. The disproportion between OFC and height seems to be related to disease severity in boys but not in girls. Growth charts presented here can be useful in neurofibromatosis clinics for the identification of the effects of secondary growth disorders, for growth prognosis, and for the evaluation of the effects of a therapy such as GH therapy after radiotherapy for optic glioma.

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Section: Discussionmentioning

confidence: 99%

Neurofibromatosis type 1 growth charts

et al. 1999

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“…Birth measurements and postnatal height are expressed as SDS for GA and chronological age, respectively, based on the normative data for the general population at birth (32) and, thereafter, for the general (33) and TS populations (12). SGA was defined as a BL or weight of K2 SDS or less.…”

Section: Methodsmentioning

confidence: 99%

“…In a French study of 160 patients, 45% of patients were found to have been small for gestational age (SGA), for length and/or weight (11). Height velocity decreases during childhood and the height deficit increases during adolescence due to the absence of a pubertal growth spurt, resulting in a spontaneous adult height (AH) approximately 20 cm shorter than mid-parental height (143 cm in France) (11,12). Most clinical trials have shown that treatment with recombinant human growth hormone (GH) can yield a mean height gain of about 7 cm, varying with age at treatment initiation and treatment duration (13,14).…”

Section: Introductionmentioning

confidence: 99%

X-chromosome gene dosage as a determinant of impaired pre and postnatal growth and adult height in Turner syndrome

Fiot

Zénaty

Boizeau

et al. 2016

European Journal of Endocrinology

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Objective: Short stature is a key aspect of the phenotype of patients with Turner syndrome (TS). SHOX haploinsufficiency is responsible for about two-thirds of the height deficit. The aim was to investigate the effect of X-chromosome gene dosage on anthropometric parameters at birth, spontaneous height, and adult height (AH) after growth hormone (GH) treatment. Design: We conducted a national observational multicenter study. Methods: Birth parameter SDS for gestational age, height, and AH before and after GH treatment respectively, and height deficit with respect to target height (SDS) were classified by karyotype subgroup in a cohort of 1501 patients with TS: 45,X (36%), isoXq (19%), 45,X/46,XX (15%), XrX (7%), presence of Y (6%), or other karyotypes (17%). Results: Birth weight, length (P!0.0001), and head circumference (P!0.001), height and height deficit with respect to target height (SDS) before GH treatment, at a median age of 8.8 (5.3-11.8) years and after adjustment for age and correction for multiple testing (P!0.0001), and AH deficit with respect to target height at a median age of 19.3 (18.0-21.8) years and with additional adjustment for dose and duration of GH treatment (PZ0.006), were significantly associated with karyotype subgroup. Growth retardation tended to be more severe in patients with XrX, isoXq, and, to a lesser extent, 45,X karyotypes than in patients with 45,X/46,XX karyotypes or a Y chromosome. Conclusion: These data suggest that haploinsufficiency for an unknown Xp gene increases the risk of fetal and postnatal growth deficit and short AH with respect to target height after GH therapy.

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“…Growth charts have been developed for a number of other special populations of infants and children. These have included Down syndrome (Al Husain, 2003;Cremers et al, 1996;Cronk et al, 1988;Cronk, 1978;Myrelid et al, 2002;Piro et al, 1990;Toledo et al, 1999), neurofibromatosis (Szudek et al, 2000), Ullrich-Turner syndrome (Isojima et al, 2009;Sempe et al, 1996), pediatric liver transplant recipients (Saito et al, 2007), Laron syndrome (Laron et al, 1993), Noonan syndrome (Witt et al, 1986), and achondroplasia (Horton et al, 1978). In the future, if measurements tracked in such charts can be linked to health outcomes (e.g., mortality) the charts will be more valuable to clinicians.…”

Section: Applications To Other Areas Of Health and Diseasementioning

confidence: 96%

Growth Charts for Children with Cerebral Palsy: Weight and Stature Percentiles by Age, Gender, and Level of Disability

Day¹,

Brooks²,

Shumway³

et al. 2011

Handbook of Growth and Growth Monitoring in Health and Disease

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Growth charts for the general population, whether reference charts from the CDC or standards for healthy children developed by the WHO, are of limited use for children with cerebral palsy (CP), whose weight-for-age and stature-for-age often track below the 5th percentiles on such charts. In this chapter we review previous work on CP-specific growth patterns and growth charts and present new weight-for-age and stature-for-age growth charts for CP. The new charts are based on data comprising over 100,000 measurements of weight and height of children with CP who received services from the California Department of Developmental Services from 1988 to 2002. The charts are stratified by Gross Motor Function Classification System (GMFCS) level. The percentile curves in the new charts are based on methodology recommended by the WHO (the Box-Cox power-exponential distribution with four parameters was used to construct the percentile curves). The resulting curves show 5th, 10th, 25th, 50th, 75th, 90th, and 95th percentiles of weight-for-age and stature-for-age separately for boys and girls and GMFCS levels I-V, with level V further separated according to presence of a feeding tube. Very low percentiles of weight (5th or 20th percentile, depending on GMFCS level), below which mortality rates are elevated, are identified in the charts. The format of the charts is similar to that of the CDC general population reference charts for children aged 2-20. The new charts confirm earlier work showing that percentiles of weight-for-age and stature-for-age in CP are substantially lower than corresponding percentiles in the general population. The charts also confirm that weight and stature in CP are strongly associated with level of gross motor functioning. Among the most severely affected children with CP (GMFCS level V), weight and stature percentiles are higher for those with feeding tubes. The chapter reviews evidence from earlier studies linking very high or very low weights in CP to other health outcomes and examines these links relative to percentiles of weight-for-age on the new GMFCS-level-specific growth charts. Practical considerations for using the new charts are discussed and cautionary notes provided. The chapter includes a brief discussion of how the information presented here might apply to other neurological disorders or medical conditions.

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Growth curves in untreated Ullrich-Turner syndrome: French reference standards 1-22 years

Abstract: Reference curves for untreated Ullrich-Turner syndrome are provided, which should form a basis for assessing the impact of growth-promoting treatment in this disorder.

Cited by 35 publications

References 15 publications

Neurofibromatosis type 1 growth charts

Neurofibromatosis type 1 growth charts

X-chromosome gene dosage as a determinant of impaired pre and postnatal growth and adult height in Turner syndrome

Growth Charts for Children with Cerebral Palsy: Weight and Stature Percentiles by Age, Gender, and Level of Disability

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