GESTATIONAL AGE AT DELIVERY AND LAXITY / HYPOTONIA IN DOWNS: IS THERE A LINK? AN EPIDEMIOLOGICAL EXTENSION OF TWO SEPARATE INVESTIGATIONS ON A SERIES OF 510 SUBJECTS.


Renato Cocchi, neurologist and medical psychologist.

Summary.

Derived from the same consecutive series of 510 Down Ss, two subsamples were sorted, the first of 142 Ss with laxity / hypotonia and the second of 68 Ss with prematurity (gestational age at delivery: 32-36 weeks). The whole data have been now crossed to investigate the role of gestational age at delivery in the onset of laxity / hypotonia. No gender prevalence was found as for the gestational age at delivery and the presence or absence of laxity / hypotonia. Statistically significant male prevalence (0.02) was found as for the premature gestational age and laxity / hypotonia. Premature gestational age could be a worsening factor for the onset of laxity / hypotonia in Down syndrome Ss.

Key words: Down syndrome; prematurity, laxity / hypotonia; link; stress; gender, prevalence.

 

Traduzione in italiano

Down syndrome

Mental retardation


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Following my previous investigations on ligamentous laxity and hypotonicity (Cocchi 2003) and on prematurity and low birth weight in Downs (Cocchi, 2004) I decided to cross the data of these two, to search a possible link between prematuryty and laxity / hypotonia in this population.

The starting point of this research came from the same consecutive series of 510 Down persons, selected by the exclusion of autisic and other PPD 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 as I checked on discharge cards of the obstetrics department or as the parents told me. During the first consultation I noted the presence of the absence of ligamentous laxity /hypotonicity.

From all cards I collected:

- the gender;

- the chromosomal diagnosis;

- the age at 1st consultation;

- the gestational week at delivery;

- ligamentous laxity and/or muscle hypotonicity (termed also, laxity / hypotonia).

I statistically processed data by gender, chromosomal diagnoses, prematurity, laxity / hypotonia. I applied Chi Square Test, when suitable.

Results.

The results are detailed in tables 1-7.

Tab 1: Epidemiological data of the whole series.

.

 

No. 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 (Camera and Mastroiacovo,1984). Even the distribution of the chromosomal diagnosis, meets the ranges of variability for Italian and international samples (Camera e Mastroiacovo,1984; Hook, 1983; Hook, Cross and Schreinemachers, 1983).

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

 

Tab. 2: Distribution of the prevalence of the symptom "laxity / hypotonia" according to gender, chromosomal diagnosis and age at first consultation.

 

Ss no.

%

The whole sample

510

100.00

Not investigated

9

1.76

Symptom presence

142

27.84

 

Symptom presence

142

100.00

Males

79

55.63

Females

63

44.37

M/F ratio

125.40

 

Chromosomal diagnosis

 

Standard trisomy 21

130

91.55

Translocations

6

4.22

Mosaicisms

4

2.82

Only clinical diagnosis

2

1.41

 

Age at first consultation

 

Average +/- SD (months)

35.98 +/- 35.33

Range (months)

6-164

 

Tab. 3: Epidemiological data of the subsample (68 Ss) with prematurity.

 

No. of Ss

%

Total subsample

68

100.00

M

53

77.94

F

15

22.06

M/F ratio

353.33

 

The whole sample

510 Ss

100.00

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

 

The whole sample

510

100.00

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 more easiness of premature births.

 

Tab 4.: Distribution of the weeks of gestational age vs presence of laxity / hypotonia (severity graduated with +, ++, +++).

 

Presence of laxity / hypotonia

Presence of laxity / hypotonia

Week of gestation

Females

Males

Age vs severity

No. of Ss

%

No. of Ss

%

Not recorded vs +

3

4.76

4

5.06

 

 

32 vs +

1

1.59

0

0.00

33 vs +

1

1.59

1

1.27

35 vs +

2

3.17

0

0.00

36 vs +

0

0.00

4

5.06

 

Chi Square = 6.884 with 3 df and p = 0.99 NS

37 vs +

2

3.17

8

10.12

38 vs +

6

9.52

8

10.12

39 vs +

1

1.59

2

2.53

40 vs +

23

36.50

20

25.31

42 vs +

1

1.59

1

1.27

 

Chi Square = 4.109 with 4 df and p = 0.391 NS

43 vs +

1

1.59

1

1.27

 

 

Not recorded vs ++

3

4.76

6

7.59

 

 

34 vs ++

0

0.00

3

3.80

35 vs ++

0

0.00

2

2.53

36 vs ++

1

1.59

3

3.80

 

Chi Square = 1.343 with 2 df and p = 0.511 NS

37 vs ++

1

1.59

0

0.00

38 vs ++

1

1.59

3

3.80

39 vs ++

1

1.59

1

1.27

40 vs ++

12

19.04

7

8.86

41 vs ++

1

1.59

1

1.27

 

Chi Square = 2.774 with 4 df and p = 0.596 NS

 

 

Not recorded vs +++

0

0.00

2

2.53

 

 

36 vs +++

1

1.59

1

1.27

 

 

40 vs +++

1

1.59

1

1.27

Totals

63

100.00

79

100.00

No gender prevalence was found.

 

Tab 5 . Distribution of the weeks of gestational age vs absence of laxity / hypotonia (-)

 

Absence of laxity / Hypotonia

Absence of laxity / Hypotonia

Week of gestation

Females

Males

Age vs severity

No. of Ss

%

No. of Ss

%

Not recorded vs -

17

11.89

23

10.65

 

 

32 vs -

0

0.00

1

0.46

33 vs -

0

0.00

1

0.46

34 vs -

2

1.40

3

1.39

35 vs -

0

0.00

3

1.39

36 vs -

7

4.89

30

13.89

 

Chi Square = 2.519 with 4 df and p 0.641NS

37 vs -

3

2.10

17

7.87

38 vs -

.17

11.89

26

12.04

39 vs -

10

6.99

9

4.17

40 vs -

75

52.46

87

40.28

41 vs -

5

3.49

7

3.24

42 vs -

5

3.49

4

1.85

 

Chi Square = 8.507 with 5 df and p = 0.136 NS

43 vs -

2

1.40

4

1.85

44 vs -

0

0.00

1

0.46

 

Chi Square = 0.275 with 1 df and p 0.600 NS

Totals

143

199.00

216

100.00

Nine Ss are lacking in the tab. 4-5 because no information about both laxity / hypotonia and prematurity was reported.

No gender prevalence in every subsample, made according to gestational age at delivery.

 

 Tab. 6.: Comparison between Ss with premature delivery with and without laxity / hypotonia.

 

Prematurity with laxity / hypotonia

Prematurity without laxity / hypotonia

Gestational week

No.of Ss

%

No. of Ss

%

32

1

5.00

1

2.13

33

2

10.00

1

2.13

34

0

0.00

5

10.64

35

2

10.00

3

6.39

36

4

20.00

37

78.72

Totals

9

100.00

47

100.00

 

Chi Square = 11.662 with 4 df and p = 0.02

As for this subsample, premature gestational age is statistically significant and a possible cofactor for the onset of laxity / hypotonia.

  

Tab 7: Comparison between Ss with normal age delivery with and without laxity / hypotonia.

 

Normal gastational age with laxity / hypotonia

Normal gestational age without laxity / hypotonia

Gestational week

No.of Ss

%

No. of Ss

%

37

9

9.00

20

7.55

38

18

18.00

43

16.23

39

5

5.00

19

7.17

40

64

64.00

162

61.12

41

2

2.00

12

4.53

42

2

2.00

9

3.49

Totals

100

100.00

265

100.00

 

Chi Square = 2.625 with 5 df and p = 0.921 NS

As for this subsample, normal age delivery does not interfere with the onset of laxity / hypotonia.

 

Discussion.

Fewer words of discussion can be written on this new research. This is the first one on this topic, at least for what I found on Google and on Medline since 1960. This appears very strange because the Down syndrome has greatly dedicated literature. Evidently, this is a topic of poor interest.

The results gained here, besides the prevalence of premature males already seen in the preceding research (Cocchi, 2004), are only 1. Prematurity and laxity / hypotonia seem two independent phenomena in Down syndrome; 2. Prematurity could be a worsening factor in Down subjects with laxity / hypotonia.

References.

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.

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

Cocchi R. Prematurity and low birth weight in Downs. An epidemiological investigation on 510 subjects. July 2004, <www.stress-cocchi.net/Downs44.htm>.

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>.

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.

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. 1983, 249: 2034-2038,

First posted on Internet on June 30, 2004. Copyright by R. Cocchi, 2004.


Author's address: Dr Renato COCCHI, via Rabbeno, 3
42100 Reggio Emilia (Italy)

renatococchi@libero.it

 

Traduzione in italiano

Down syndrome

Mental retardation


Home Page  / / /  Pagina iniziale