LOW BIRTH WEIGHT AND JOINT LAXITY / HYPOTONIA IN DOWNS. IS THERE SOME RELATIONSHIP? AN OTHER EPIDEMIOLOGICAL DEVELOPMENT OF TWO PRECEDING DIFFERENT INVESTIGATIONS ON A SERIES OF 510 SUBJECTS.

Renato COCCHI, neurologist and medical psychologist

 

Summary.

From the same consecutive series of 510 Down subjects, two subsamples were already extracted, the first of 142 subjects with laxity / hypotonia, and the second of 56 Ss (17 F and 39 M; Distribution of the chromosomal diagnoses a little altered as an artifact due to the reduced extent of this sample) with low birth weight ( < 2500 grams ).

The whole data were crossed to appraise the role of the low birth weight on the onset of laxity / hypotonia. No gender prevalence was found between low birth weight and presence or absence of laxity / hypotonia. No relationship between low birth weight and laxity / hypotonia was discovered.

Key words: Down syndrome; low birth weight; joint laxity; hypotonia; stress; gender.

 

 Testo in italiano

Down syndrome

Mental retardation

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Following my two preceding investigations on the laxity / hypotonia (Cocchi, 2003 ) and on the prematurity and low birth weight (Cocchi, 2004) in Downs, I have decided to cross the data, to look for a possible linkage between low birth weight, as the cause of an internal metabolic stress, and laxity / hypotonia in this population.

The starting point of this new research, is always in the same consecutive series of 510 Down, selected with the exclusion of autistic subjects or with other Pervasive Developmental Disorders.

 

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 birth weight 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 joint laxity / hypotonia.

From all cards I collected:

- the gender;

- the chromosomal diagnosis;

- the age at 1st consultation;

- the birth weight;

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

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

 

Results.

I summarized the results in the charts 1-6.

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" as for genede, chromosomal diagnoses, 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 (56 Ss) with low birth weight.

Birth weight (grams)

No. of Ss

%

<1500

1

0.20

>1499 e <2000

9

1.76

>1999 e <2500

46

9.02

Total of Ss with low birth weight

56

10.98

 

 

Normal birth weight

361 

78.78

Not recorded

93

18.24

Total

510

100.00

How we may see in the table 3, the low birth weight counts for 10.09% of the whole series. How it happened for the gestational age at birth, even here, in the first three years when I faced Down syndrome Ss, I did not record this parameter, and I could not integrate it later.

 

Tab 4: Distribution of the low birth weight with regard to the presence or to the absence of laxity / hypotonia (56 Ss).

 

Females

Males

 

With laxity / hipotonia

With laxity / hipotonia

 

No. of Ss

%

No. of Ss

%

Low birth weight

8

14.29

15

26.79

M/F ratio

187.5

 

 

 

 

 

 

Without laxity / hipotonia

Without laxity / hipotonia

Low birth weight

9

16.07

24

42.86

M/F ratio

266.67

 

 

Totals

17

30.36

39

69.64

Chi Square = 0.094 with 1 df and p = 0.760 NS

I did not find any statistically meaningful prevalence as for the gender.

 

Tab. 5: Distribution of the chromosomal diagnoses in low birth weight Ss, with or without laxity / hypotonia.

 

With laxity / hipotonia

Without laxity / hipotonia

Totals

Chromosomal diagnosis

No. of Ss

%

No. of Ss

%

No. of Ss

%

 

 

Standard trisomy 21

21

91.30

28

84.85

49

87.5

Mosaicisms

0

 

1

3.03

1

1.79

Translocaztons

2

8.70

2

6.96

4

7.14

Only clinical diagnosi

0

 

2

6.06

2

3.57

Chi Square (with 0 = 0.01 for computation) = 2.234 with 3 df and p = 0.718 NS.

The distribution of the chromosomal diagnosis doesn't differ in a statistically meaningful way between the two subsamples of Ss with low birth weight.

 

Tab. 6: Presence or absence of laxity / hypotonia as for the birth weight (417 Ss with both data recorded out of 510 Ss).

 

With laxity / hipotonia

Without laxity / hipotonia

 

No. of Ss

%

No. of Ss

%

With low birth weight

23

5.52

33

7.91

With normal birth weight

98

23.50

263

63.07

If we needed a further confirmation of the lack of linkage between low birth weight and laxity / hypotonia, this comes out from the presence of 23.50% of it with normal birth weight, against 5.52% of laxity / hypotonia in low birth weigh Ss.

 

Discussion.

Even on this new research I can write only fewer words. This is the first one on this topic, at least for what I found on Google, and on Medline since 1960. This appears much curious because the Down syndrome has very much literature. Evidently even this, as that of the relationship between prematurity and laxity / hypotonia (Cocchi, 2004 ) was a matter of poor interest. The results here obtained, point that low birth weight and the laxity / hypotonia, about surely are two independent events in the Down syndrome.

 

 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. Which relationship between tongue protrusion and joint laxity / hypotonia in Downs? An epidemiological investigation on 452 subjects. 2004 <www.stress-cocchi.net/Downs43.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. 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. <www.stress-cocchi.net/Downs45.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. Chromosomal abnormality rates at amniocentesis and in live-born infants. J.A.M.A. 1983, 249: 2034-2038,

 

Posted on Internet on 26 July 2004. Copyright by R. Cocchi, 2004.

 

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

renatococchi@libero.it

 

 Testo in italiano

Down syndrome

Mental retardation

Home Page  / / /  Pagina iniziale