PREMATURITY AND LOW BIRTH WEIGHT IN DOWNS. AN EPIDEMIOLOGICAL INVESTIGATION ON 510 SUBJECTS.

Renato Cocchi, a neurologist and a medical psychologist.

Affiliation: CTR, via F.lli Cervi 59E, 42100 Reggio Emilia (Italy)

 

Abstract

As derived from the same series of 510 Down Ss, two subsamples were extracted, the first with prematurity (69 Ss, 53 M + 15 F, M/F ratio = 353.33; normal distribution of the chromosomal diagnoses) and the second one with low birth weight (56 Ss, 39 M + 17 F, M/F ratio = 229.41; statistically normal distribution of the chromosomal diagnoses). So prematurity and /or low birth weight do not directly depend on the chromosome 21.

Prematurity and low birth weight in Down syndrome Ss are known events but not so frequent as told. In our series they occurred respectively in 13.34% as prematurity and in 10.98% as low birth wight. Between them, thirty-two (6.27% of the whole series) had both these risk factors. Prematurity showed statistically significant male prevalence when alone (.0002) or with contemporary presence of low birth weight (.032). This male prevalence seems a fully new finding.

Key words: Down syndrome; prematurity, low birth weight, epidemiology, stress, male prevalence, ..

 

Traduzione italiana

Down syndrome

Mental retardation

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Since years, I explored an electronic database where I collected information and symptoms referring to first 510 subjects with Down syndrome. Among others, I did epidemiological investigations on cerebral palsy (1), easiness to upper respiratory tract infections (2), toilet habits (3), hyperkinesis (4-5); depression, (6), combing difficulty (7), sialorrhea (8), balance (9), the joint laxity / hypotonia (10-11) and the tongue protrusion (11-12),

Now I want to check the prevalence of prematurity, low birth weight or both these risk factors in this cohort of Down syndrome subjects.

 

Materials and methods.

This investigation used my clinical cards referring to a consecutive series of home reared and home living Italian Downs as seen in outpatients' clinic by myself since 1979 to 1993. Psychotic subjects' cards were excluded.

During their 1st consultation I recorded the gestational week at delivery and the weight at birth, as I checked on discharge cards of the obstetrics hospital or as the parents told me.

From all cards I collected:

- the gender;

- the chromosomal diagnosis;

- the age at 1st consultation;

- the gestational week at delivery;

- the birth weight.

I statistically processed data by gender, chromosomal diagnoses, prematurity, low birth weight or both these two last. I applied Chi Square Test, when suitable.

 

Results.

The data derived from the 510 clinical cards, drove to a first selection of 452 cards suitable for this investigation and the related data appear in the tables that follow.

 

Tab. 1: Epidemiological data of the whole series.

Nr. Of Ss

510

100.00%

Males

292

57.25%

Females

218

42.57%

M/F ratio

133.94 

  

Chromosomal diagnoses

 

 

Standard trisomy 21

461

90.39%

Mosaicisms

16

3.14%

Translocations

16

3.14%

Unknown, only clinical diagnosis

17

3.33%

   

Age at 1st consultation (months)

 

 

Range

6-510

 

Average +/- SD

71.37 +/- 69.71 

As we may see in the table 1, the M/F ratio appears poorly different (133 vs 135) from what we know for Italian newborn and alive Down children (13). Even the distribution of the chromosomal diagnosis, meets the ranges of variability for Italian and international samples (13-15).

For these reasons, we may think the sample here investigated as representative of at least the Italian population of Downs.

 

Tab. 2: The gestational week at delivery (normality: 37-42 weeks).

Gestational week at delivery

No. of Ss

%

32

2

0.39

33

3

0.59

34

8

1.57

35

7

1.37

36

48

9.41

Total of premature deliveries

68

13.34

 

37

33

6.47

38

62

12.16

39

24

4.70

40

228

44.71

41

13

2.55

42

10

1.96

Total of normal time deliveries

402

78.82

 

43

8

1.57

44

1

0.20

Total of postmature deliveries

9

1.77

 

 

 

Datum not recorded

64

12.55

General total

510

100.00

As we can see in the Tab. 2, premature deliveries account for 13.34% of the whole series. In first three years I was concerned with Down syndrome Ss, I did not record this parameter, and I could not integrate it later.

 

Tab. 3: Epidemiological data of the subsample (68 Ss)with prematurity (<37 weeks of gestational age).

 

No. of Ss

%

 

68

100.00

M

53

77.94

F

15

22.06

M/F ratio

353.33

 

Total sample:510 Ss

 

 

M

292

57.25

F

218

42.57

M/F ratio

133.04

 

Chi Square for gender = 9.828 with 1 df and p = 0.002

 

Chromosomal diagnoses

 

 

Standard trisomy 21

62

91.18

Mosaicisms

1

1.47

Translocations

3

4.41

Only clinical diagnosis

2

2.94

Total sample:510 Ss

 

 

Standard trisomy 21

461

90.39

Mosaicisms

16

3.14

Translocations

16

3.14

Only clinical diagnosis

17

3.33

Chi Square for chromosomal diagnoses = 0.895 with 3 df and p = 1.000 NS

The Tab. 3 shows a very interesting datum. Males seem to have a statistically significant more easiness of premature births.

 

Tab. 4: Birth weight (normal: >= 2500 grams).

Weight at birth (grams)

No. of Ss

%

<1500

1

0.20

>1499 and <2000

9

1.76

>1999 and <2500

46

9.02

Low birth weight, total

56

10.98

 

 

 

>2499 and <3000

168

31.38

>2999 and <3500

120

23.53

>3499 and <4000

53

10.39

>3999 and <4500

16

3.14

>4499

4

0.78

 

 

 

Datum not recorded

93

18.24

Total

510

100.00

As we can see from the tab. 4, low birth weight accounts for 10.98% of the whole series. Even here, in first three years I was concerned with Down syndrome Ss, I did not record this parameter, and I could not integrate it later.

 

Tab. 5: Epidemiological data of the subsample with low birth weight.

 

No. of Ss

%

 

56

100.00

M

39

81.08

F

17

18.92

M/F ratio

229.41

 

Total sample:510 Ss

 

 

M

292

57.25

F

218

42.57

M/F ratio

133.04

 

Chi Square for gender = 2.699 with 1 df and p = 0.10 NS

 

Chromosomal diagnoses

 

 

Standard trisomy 21

49

87.50

Mosaicisms

1

1.79

Translocations

4

7.14

Only clinical diagnosis

2

3.57

Total sample:510 Ss

 

 

Standard trisomy 21

461

90.39

Mosaicisms

16

3.14

Translocations

16

3.14

Only clinical diagnosis

17

3.33

Chi Square for chromosomal diagnoses = 2.653 with 3 df and p = 0.650 NS

Gender and chromosomal diagnoses are not causal factors of low birth weight

 

Tab. 6: Epidemiological data of the subsample (32 Ss)

with the contemporary presence of prematurity and low birth weight.

 

No. of Ss

%

 

(32 / 510)

(6.27)

 

32

100.00

M

25

78.13

F

7

21.87

M/F ratio

357.14

 

Total sample:510 Ss

 

 

M

292

57.25

F

218

42.57

M/F ratio

133.04

 

Chi Square for gender = 4.576 with 1 df and p = 0.032

 

Chromosomal diagnoses

 

 

Standard trisomy 21

26

81.25

Mosaicisms

0

00.00

Translocations

4

12.50

Only clinical diagnosis

2

6.25

Total sample:510 Ss

 

 

Standard trisomy 21

461

90.39

Mosaicisms

16

3.14

Translocations

16

3.14

Only clin. Diagnosis

17

3.33

Chi Square for chromosomal diagnoses = 9.145 with 3 df and p = 0.035

 

 

 

Prematurity + low birth weight

Birth wieght in grams

Gestational week at delivery

 

<2000

From 32 to 36

 

>1999 and <2500

From 33 to 36

As we can see from the Tab. 6, the contemporary presence of prematurity and low birth weight in 32 cases differs from the whole series in a statistically significant way as for gender. So, it repeats here the datum already seen in the prematurity subsample. There is also a statistically significant difference as for the distribution of the chromosomal diagnoses, but this result could be an artifact due to this small subsample.

 

Discussion.

Although prematurity and low birth weight in Down are two events always reported, I did not find specific epidemiological investigations in the literature. With the key words: Down syndrome, prematurity (or low birth weight), epidemiology, I did search on Google, and on Medline since 1960. I found a very recent paper on this topic (16). The rates I reported here are smaller of those found by thease researchers, who rated 25% prematurity births, and 14% low birth weights.

My investigation is surely carried out on a very large sample, but the data were not collected at birth time, but later. Perhaps this is a differentiating point. As for the results, first of all, these two risk factors do not directly depend on the chromosome 21.

As I wrote above, when I started to be concerned with Down syndrome Ss, I did not record these, and I could not integrate them later. The first one I recorded was the gestational age at delivery, because I was interested in previous stress symptoms. Then even the low birth weight had its record. So it explains why there are more records about prematurity than about low birth weight.

I reported prematurity and low birth weight, as a part of my Down syndrome casuistry, as possible causal factors either for cerebral palsy or squint (17-18). I get information that prematurity or low birth weight or both were major risk factors for the onset of cerebral palsy (19).

As for my whole series (510 Ss), the gender distribution and M/F ratio, as well as chromosomal diagnoses distribution, parallel the usual ranges (13-15).

Premature birth accounts for 13.34%. It is surely a noticeable rate, but only two births out of fiveteen came in a premature time. When compared to the whole sample (tab. 3) something new appeared. Prematurity prevails among males in a statistical significant way. It is not extraordinary information, because male prevalence usually runs in mostly child neuro-psychiatry.

In its turn, low birth weight rated 10.98%, lesser than premature births. No gender prevalence did get out of it, as compared to the whole series.

The small subsample with the contemporary presence of both risk factors showed a statistically significant increasing of male prevalence, with a higher M/F ratio, as compared with the M/F ratio of the prematurity subsample.

This seems to give another support to the idea of increased male vulnerability even in Down people.

 

Conclusion.

Prematurity and low birth weight in Down syndrome Ss are known events but not so frequent as told. In a series of 510 persons they occurred respectively in 13.34% as prematurity and in 10.98% as low birth wight. Between them thirty-seven persons (6.27% of the whole series) had both these risk factors. Prematurity showed a statistically significant male prevalence when alone or with contemporary presence of low birth weight. This fact seems a fully new finding.

 

References.

(1) Cocchi R. Paralisi cerebrali infantili in bambini Down: 3 casi. Riv. It. Disturbo .Iintellet. 1990, 3: 327-330. English text in <www.stress-cocchi.net/Symptoms3.htm>

(2) Cocchi R. Easiness to upper respiratory tract infections: An investigation on 510 Down's syndrome persons. It. J. Intellect. Impair. 1997, 10: 143-149

<www.stress-cocchi.net/Down5.htm>

(3) Cocchi R. Toilet habits in Downs: A survey on 492 subjetcs It. J. Intellect. Impair. 1996; 9: 13-25. <www.stress-cocchi.net/Symptoms3.htm>

(4) Cocchi R. Favuto M. Hyperkinesis in Down's syndrome: A survey on 510 persons It. J. Intellect. Impair. 1997, 10: 19-23. <www.stress-cocchi.net/Symptoms4.htm>

(5) Cocchi R. Favuto M. Time course of hyperkinesis in Down's syndrome: A survey on 498 persons.. It. J. lntellect. impair. 1998, 11: 141-146. <www.stress-cocchi.net/Symptoms7.htm>

(6) Cocchi R. Depression in Downs: An epidemiological and clinical investigation on 510 subjects. 2002, <www.stress-cocchi.net/Downs31.htm>

(7) Cocchi R. The difficulty of being combed as a curious symptom in Downs. An epidemiological investigation on 510 subjects. 2003,  <www.stress-cocchi.net/Downs32.htm>

(8)  Cocchi R. Sialorrhea (or drooling) in Downs. An epidemiological investigation on 510 Ss. 2004, <www.stress-cocchi.net/Downs38.htm>

(9) Cocchi R. Evaluation of balance in Down persons. An epidemiological and clinical investigation on 383 subjects. 2003,  <www.stress-cocchi.net/Downs35.htm>

(10) Cocchi R. Ligamentous laxity and hypotonicity in Downs. An epidemiological investigation on 510 subjects. 2003,  <www.stress-cocchi.net/Downs34.htm>

(11) Cocchi R. Which relationship between tongue protrusion and joint laxity / hypotonia in Downs? An epidemiological investigation on 452 subjects. 2004, <www.stress-cocchi.net/Downs43.htm>

(12) Cocchi R. Tongue protrusion in Downs. An epidemiological survey on 510 subjects. 2004, <www.stress-cocchi.net/Downs42.htm>

(13) Camera G., Mastroiacovo P.: Epidemiologia della sindrome di Down. In. Ce.Pi.M. (ed): Aspetti epidemiologici, genetici, clinici, riabilitativi e sociali della sindrome di Down. Ce.Pi.M., Genova 1984: 225-230.

(14) Hook, E. G Epidemiology of Down syndrome. In, Pueschel, S. M. and Rynders, J. E. (eds.): Down Syndrome. Advances in Biomedicine and the Behavioral Sciences. Cambridge: Ware Press,1983.

(15) Hook, E. B.; Cross, P. K. and Schreinemachers, D. M. (1983). Chromosomal abnormality rates at amniocentesis and in live-born infants. J.A.M.A. 249, 2034-2038,

(16) Frid C., Drott P., Otterblad Olausson P., Sundelin C., Anneren G.: Maternal and neonatal factors and mortality in children with Down syndrome born in 1973-1980 and 1995-1998. Acta Paediatr. 2004, 93:106-112.

(17) Cocchi R., Branchesi R.: Strabismo e disturbi pre-, peri-, e neonatali in soggetti affetti da sindrome di Down. Indagine epidemiologica su 215 casi. Rass. Studi Psichiat. 1986, 75: 504-512.

(18) Cocchi R. Branchesi R. Non legame causale fra strabismo e paralisi cerebrale infantili, da prematurita` e/o basso peso alla nascita, nei soggetti Down? Riv. It. Disturbo Intellet. 1988, 1: 161-164. English text on <www.stress-cocchi.net/Downs25.htm>

(19) Susser M., Sergievsky G.H., Hauser W.A., Kiely G.L., Paneth N., Stein Z.: Quantitative estimates of prenatal and perinatal risk factors for perinatal mortality, cerebral palsy, mental retardation and epilepsy. In: Freeman G.M. (ed): Prenatal and perinatal factors associated with brain disorders. NIHP, Washington D.C., 1985: 359-439. 

 

Author's address. Dr Renato COCCHI, Via Rabbeno, 3.

42100 Reggio Emilia (Italy)

Email: renatococchi@libero.it

Traduzione italiana

Down syndrome

Mental retardation

Home Page  / / /  Pagina iniziale