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Characterisation of the somatic evolution of Portuguese children with Trisomy 21 - Preliminary results

Armando Fernandes, Ana Mourato, Mª Xavier, David Andrade, Cláudio Fernandes and Miguel Palha

We present preliminary results of a cross-sectional study which had the following objectives: 1- to develop percentile curves of weight, height and head circumference of Portuguese children with Trisomy 21 from 0 to 48 months of age; 2- a comparison of the growth of children with Trisomy 21 with a control population of their siblings, and 3- a comparison between the growth of Portuguese and American children with Trisomy 21 (based on the data of Cronk et al). We conclude that: 1- there is growth delay (weight, height, head circumference) in the Portuguese children with Trisomy 21, in all of the parameters evaluated and in all age groups; 2- Portuguese children with Trisomy 21 present values similar to those obtained by Cronk et al until 24 months of age; 3- from the age of 30 months onward Portuguese children with Trisomy 21 were heavier and taller than American children with Trisomy 21. This supports the usefulness of percentile curves specifically for Portuguese children with Trisomy 21.

Fernandes A, Mourato AP, Xavier MJ, Andrade D, Fernandes C, Palha M. Characterisation of the somatic evolution of Portuguese children with Trisomy 21 - Preliminary results. Down Syndrome Research and Practice. 2001;6(3);134-138.

doi:10.3104/reports.106


Introduction

Children with Trisomy 21 have well documented growth retardation, particularly with respect to head circumference.

In clinical paediatrics, and particularly in development disturbances, somatometric records (weight, height and head circumference) may be of value in supporting the diagnosis of a wide variety of disorders which effect people with Trisomy 21.

Portugal has a population of approximately ten million inhabitants, and extrapolating from the statistical findings of other countries, a prevalence of 10 to 15 thousand people with Trisomy 21 could be expected. This corresponds to 150 to 180 children born each year with this condition.

The main objectives of this study were:

  1. to develop percentile curves of somatic development (weight, height and head circumference) for Portuguese children with Trisomy 21, from 0 to 48 months of age;
  2. the comparative study of growth of children with Trisomy 21 with a population drawn from their siblings;
  3. and a comparison between the growth of Portuguese and American children with Trisomy 21 (Cronk et al., 1988).

Material and Methods

Based on some of the approaches in the literature (Cronk et al., 1988; Piro et al., 1990; Lin et al., 1991; Cremers et al., 1996), we designed, in 1995, a cross-sectional study with standards which would allow clear presentation of percentile curves for weight, stature and head circumference of Portuguese children with Trisomy 21, important starting points for the development of a prospective study.

Most information was obtained during the evaluation of children with Trisomy 21 at the outpatient clinic for Trisomy 21 at the Development Centre of the Paediatric Department at Saint Maria Hospital and/or from the outpatient clinic of the Child Health Bulletin (previous files of children with Trisomy 21, aged from 0 to 10 years).

Population

The study involved a population of Portuguese children with Trisomy 21 and their siblings with ages between 0 and 48 months followed at the Trisomy 21 Outpatient clinic.

The population consisted of:

  1. 196 children with Trisomy 21, representing approximately 32% of Portuguese children with Trisomy 21 aged between 0 and 48 months ( 551.060 *(1/900) = 612), from all parts of the country, thus forming a significant sample of the Portuguese children with Trisomy 21, 0 to 48 months old (none of whom were institutionalised); and
  2. 96 siblings of children with Trisomy 21, without known disorders.

Methods

The following approaches were used:

  1. Retrospective collection of anthropometric data registered in the Child Health Bulletins (children with Trisomy 21 with their respective siblings) and/or measurement, performed by one of the team members, suitably trained, during the evaluation of the development of children with Trisomy 21 followed at the Trisomy 21 clinic. Only the files with measurements taken within one week of the key dates were considered (key dates 0, 3, 6, 9, 12, 15, 18, 24, 30, 36, 42 and 48 months).
  2. Grouping of anthropometric data studied by gender and age, for children with Trisomy 21 and respective siblings.
  3. Adjustment of the subgroups obtained, using the Kolmogorov-Smirnov test.
  4. Homogenisation of the subgroups, excluding extreme values (mean plus or minus 4 standard deviations).
  5. Estimation of the mean value and standard deviation of all the parameters in the different subgroups.
  6. The data was plotted according to the different anthropometric parameters, to derive the percentiles curves 5%, 10%, 25%, 50%, 75%, 90% and 95%. Smoothing of the percentile curves was performed using the cubic 'spline' method.
  7. Comparison between the group of children with Trisomy 21 and their siblings, using Student's t test.
  8. Comparison between the average of Portuguese and American children with Trisomy 21.

Data analysis

The data was introduced in a database specially developed for such a study using Microsoft Access. The analysis of data and the graphs were done in a spreadsheet (Microsoft Excel) and using various statistical and graphical programs (DataFit, Dplot, Graphically, Statistica, SPSS).

We considered values of p<0.05 to be statistically significant.

Table 1. Summary of anthropometric data - Children with Trisomy 21.

Age (months) Measurement Boys Girls
n mean SD n mean SD
0 Weight 107 3.024 0.55 91 2.911 0.52
Height 107 47.71 1.96 91 47.13 2.24
HC 107 33.07 1.30 91 32.58 1.30
3 Weight 104 5.090 0.74 91 4.623 0.86
Height 104 57.34 2.77 91 56.06 3.20
HC 104 38.46 1.33 91 37.58 1.40
6 Weight 100 6.847 0.95 87 6.328 1.08
Height 100 64.11 2.59 87 62.29 3.21
HC 100 41.38 1.35 87 40.57 1.30
9 Weight 95 7.925 1.00 78 7.478 1.20
Height 95 68.01 2.68 78 66.96 3.35
HC 95 42.91 1.35 78 42.23 1.40
12 Weight 94 8.677 1.01 78 8.534 1.10
Height 94 71.24 3.00 78 70.48 3.10
HC 94 43.97 1.35 78 43.36 1.31
15 Weight 77 9.337 1.01 59 9.148 1.10
Height 77 74.23 3.58 59 73.46 3.40
HC 77 44.68 1.42 59 44.10 1.20
18 Weight 73 10.112 1.26 55 9.984 1.21
Height 73 76.94 3.77 55 76.18 3.89
HC 73 45.35 1.42 55 44.86 1.20
24 Weight 63 11.135 1.26 51 11.184 1.49
Height 63 81.11 4.10 51 80.74 4.50
HC 63 46.26 1.38 51 45.81 1.17
30 Weight 53 12.070 1.49 45 12.170 1.50
Height 53 85.4 4.10 45 86.37 4.50
HC - - - - - -
36 Weight 39 12.816 1.50 41 13.188 1.60
Height 39 88.2 4.00 41 89.84 4.50
HC - - - - - -
42 Weight 31 13.550 1.54 33 14.220 1.64
Height 31 90.2 4.70 33 92.43 4.60
HC - - - - - -
48 Weight 27 14.938 1.63 26 15.073 1.82
Height 27 94.95 5.70 26 96.73 4.92
HC - - - - - -
Abbreviations: HC = Head Circumference
Note: The units of measurement are kilograms for weight and centimetres for height and HC

Table 2. Comparison between boys with Trisomy 21 and their respective brothers

Age (months) Measurement Boys with Tri. 21 Brothers p
n mean SD n mean SD
0 Weight 107 3.024 0.55 55 3.247 0.48 <0.05
Height 107 47.71 1.96 55 49.46 2.42 <0.01
HC 107 33.07 1.30 55 35.18 1.50 <0.01
3 Weight 104 5.090 0.74 55 6.068 0.80 <0.01
Height 104 57.34 2.77 55 59.57 3.16 <0.01
HC 104 38.46 1.33 55 40.84 1.50 <0.01
6 Weight 100 6.847 0.95 50 7.989 1.18 <0.01
Height 100 64.11 2.59 50 66.82 3.21 <0.01
HC 100 41.38 1.35 50 43.76 1.50 <0.01
9 Weight 95 7.925 1.00 44 9.314 1.33 <0.01
Height 95 68.01 2.68 44 72.10 3.21 <0.01
HC 95 42.91 1.35 44 45.49 1.68 <0.01
12 Weight 94 8.677 1.01 44 10.271 1.60 <0.01
Height 94 71.24 3.00 44 76.12 3.23 <0.01
HC 94 43.97 1.35 44 46.68 1.77 <0.01
15 Weight 77 9.337 1.01 34 11.023 1.62 <0.01
Height 77 74.23 3.58 34 79.38 3.27 <0.01
HC 77 44.68 1.42 34 47.51 1.77 <0.01
18 Weight 73 10.112 1.26 33 11.677 1.66 <0.01
Height 73 76.94 3.77 33 82.22 3.50 <0.01
HC 73 45.35 1.42 33 47.98 2.00 <0.01
24 Weight 63 11.135 1.26 30 12.900 1.80 <0.01
Height 63 81.11 4.10 30 87.44 4.25 <0.01
HC 63 46.26 1.38 30 49.20 1.90 <0.01
30 Weight 53 12.070 1.49 28 14.074 1.90 <0.01
Height 53 85.4 4.10 28 92.40 2.27 <0.01
HC - - - - - - -
36 Weight 39 12.816 1.50 28 15.094 1.96 <0.01
Height 39 88.2 4.00 28 96.84 4.30 <0.01
HC - - - - - - -
42 Weight 31 13.550 1.54 22 15.945 2.01 <0.01
Height 31 90.2 4.70 22 100.53 4.80 <0.01
HC - - - - - - -
48 Weight 27 14.938 1.63 22 17.030 2.20 <0.01
Height 27 94.95 5.70 22 104.04 5.80 <0.01
HC - - - - - - -

Table 3. Comparison between girls with Trisomy 21 and their respective sisters.

Age (months) Measurement Girls with Tri. 21 Sisters p
n mean SD n mean SD
0 Weight 91 2.911 0.52 41 3.371 0.46 <0.01
Height 91 47.13 2.24 41 49.36 1.55 <0.01
HC 91 32.58 1.30 41 34.68 1.34 <0.01
3 Weight 91 4.623 0.86 39 5.627 0.92 <0.01
Height 91 56.06 3.20 39 59.26 2.57 <0.01
HC 91 37.58 1.40 39 40.64 1.49 <0.01
6 Weight 87 6.328 1.08 39 7.306 0.90 <0.01
Height 87 62.29 3.21 39 65.99 2.67 <0.01
HC 87 40.57 1.30 39 43.32 1.49 <0.01
9 Weight 78 7.478 1.20 37 8.599 1.03 <0.01
Height 78 66.96 3.35 37 70.84 2.61 <0.01
HC 78 42.23 1.40 37 45.03 1.49 <0.01
12 Weight 78 8.534 1.10 36 9.645 1.03 <0.01
Height 78 70.48 3.10 36 74.69 3.02 <0.01
HC 78 43.36 1.31 36 46.49 1.49 <0.01
15 Weight 59 9.148 1.10 32 10.540 1.14 <0.01
Height 59 73.46 3.40 32 78.11 2.99 <0.01
HC 59 44.10 1.20 32 47.57 1.49 <0.01
18 Weight 55 9.984 1.21 32 11.341 1.19 <0.01
Height 55 76.18 3.89 32 81.38 3.11 <0.01
HC 55 44.86 1.20 32 47.98 1.49 <0.01
24 Weight 51 11.184 1.49 29 12.759 1.49 <0.01
Height 51 80.74 4.50 29 87.66 3.01 <0.01
HC 51 45.81 1.17 29 49.32 1.5 <0.01
30 Weight 45 12.170 1.50 28 13.935 1.67 <0.01
Height 45 86.37 4.50 28 92.85 3.67 <0.01
HC - - - - - - -
36 Weight 41 13.188 1.60 26 14.832 2.03 <0.01
Height 41 89.84 4.50 26 95.94 4.90 <0.01
HC - - - - - - -
42 Weight 33 14.220 1.64 23 15.594 2.40 <0.05
Height 33 92.43 4.60 23 97.68 5.15 <0.01
HC - - - - - - -
48 Weight 26 15.073 1.82 22 16.806 2.70 <0.05
Height 26 96.73 4.92 22 102.56 5.50 <0.01
HC - - - - - - -

Results

The results obtained are presented in Tables 1, 2 and 3.

The percentile curves for weight, length/stature, and head circumference of Portuguese children with Trisomy 21 are represented in Figures 1 to 6.

We found statistically significant differences between our children with Trisomy 21 and their siblings in all of the measures and in all age groups (Tables 2 and 3).

Figure 1. Percentile curves for weight of male Portuguese children with Trisomy 21

Figure 2. Percentile curves for height of male Portuguese children with Trisomy 21.

Figure 3. Percentile curves for head circumference of male Portuguese children with Trisomy 21.

Figure 4. Percentile curves for weight of female Portuguese children with Trisomy 21

Figure 5. Percentile curves for height of female Portuguese children with Trisomy 21.

Figure 6. Percentile curves for head circumference of female Portuguese children with Trisomy 21.

Figure 7. Comparison between the medians of weight of male Portuguese and American children with Trisomy 21 (Cronk et al, 1988)

Figure 8. Comparison between the medians of height of male Portuguese and American children with Trisomy 21 (Cronk et al, 1988)

Figure 9. Comparison between the medians of weight of female Portuguese and American children with Trisomy 21 (Cronk et al, 1988)

Figure 10.Comparison between the medians of height of female Portuguese and American children with Trisomy 21 (Cronk et al, 1988)

Discussion

The use of reference charts for the monitoring of weight, height and head circumference changes, is at present a familiar routine to the majority of health professionals involved in child care, and also, increasingly to many parents. The concept of percentile curve is easily understood and these data may help in the clinical diagnosis of many conditions which may affect the psychomotor development of Trisomy 21 population.

Standard reference charts are inadequate for many children, especially those with constitutional growth disturbances. Many of the situations are rare, which may transform the task of creating a growth chart difficult, if not impossible (Hulse, 1988).

Concerning Trisomy 21, much has been written (Cronk et al., 1988; Piro et al., 1990; Lin et al., 1991; Cremers et al., 1996; Hulse, 1988); however, the growth charts by Cronk et al. (1988) are the ones best known and used. Other percentile charts have been published, partly because the charts by Cronk et al. do not perfectly adapt to children with Trisomy 21 from other countries (Piro et al., 1990; Lin et al., Cremers et al., 1996).

In this study, we present the preliminary results for Portuguese children with Trisomy 21. The percentile curves for weight and/or height cover the ages between 0 and 48 months. Due to lack of data on head circumference for children of ages equal to or above 30 months, we decided to present only the percentile curves from 0 to 24 months groups.

There are statistical significant differences between our children with Trisomy 21 and their siblings in all of the somatic parameters evaluated and in all age groups. This fact may be due to the genetic differences between these children with Trisomy 21 and their kin, and/or endocrinologic and metabolic disturbances (maturation delay and/or hypothalamic dysfunction leading to partial deficit of growth hormone and/or growth 'insulin-like' factors) in the children with Trisomy 21 (Annerén et al., 1990).

When comparing the mean values of the weight and height of Portuguese and American children with Trisomy 21 (Cronk et al., 1988), we confirmed that the results are similar up to 24 months of age, after which Portuguese children present slightly higher values (Figures 7 to 10). This may be partly due to the genetic differences between the two populations studied and the time delay between both studies. Therefore, the development of percentile charts for Portuguese children with Trisomy 21 is justified.

Acknowledgements

We wish to thank all of the children evaluated, as well as the parents of children with Trisomy 21 for their collaboration as well as the financial support given by the Commission for Investigation in Health Care.

We would also like to thank Dr. Susan Marum for the English translation of the present article.

Correspondence

Armando Fernandes, Child Development Centre of the Paediatric Department, Hospital de Santa Maria, Av. Prof. Egas Moniz, 1599 Lisbon, Portugal, E-mail: amrf@mail.telepac.pt

References

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