TOILET HABITS IN AUTISTIC AND OTHER PDD CHILDREN
WITH OR WITHOUT DOWN’S SYNDROME

Renato COCCHI, a neurologist and a medical psychologist

 

(Italian translation)

Summary

The clinical records of two groups of Ss with PDD (PDD DS group: 32 Ss, with 19 M and 13 F; M/F = 146.58; average age at 1st consultation: 87.25 months +/- 39.21; Chromosomal diagnosis: standard trisomy 21: 30 Ss; 1 mosaic and 1 unkn. Non DS PDD group: 55 Ss, with 30 M and 20 F, M/F = 175; average age at 1st consultation: 95.29 months +/- 39.90; diagnosis: Kanner's type autism: 47 Ss; late onset PDD: 3 Ss; autism in Tuberous Sclerosis: 2 Ss; Rett's syndrome : 2 Ss; PDD n.o.s.: 1 S; both groups' Ss seen by the present author) were re-examined as for toilet habits reported during 1st consultation.

The results showed normal or nearly normal toilet habits in 56.67% DS Ss and in 54.54% non DS Ss. Spastic or prevailing spastic constipation was the more frequent encontered toilet disturb, being found in 28.13% DS Ss and in 23.63% non DS Ss.

Atonic or prevailing atonic constipation was reported in 6.25% DS Ss and in 9.09% non DS Ss. Diarrhoea, as prevailing toilet habit had 3.12% rate in DS Ss and 1.82% in non DS Ss.

When the two groups were compared eachother, the toilet habits' distribution overlaps as more than a 89% extent. When PDD DS Ss were compared to non PDD DS Ss of the previous investigation (Cocchi, 1996), toilet habits differ in a highly significant way (.0009). In particular spastic constipation becomes more frequent than atonic constipation, as the prevalent toilet disorder seen in non PDD DS Ss. It can be suggested that PDD when act on toilet habits, do so in the direction of spastic constipation. This fact could point out a trend to exceeding parasympathetic outflow in several PDD Ss.

Key words: Pervasive Developmental Dosorders; Down’s syndrome; toilet’s habits; survey.

Autism

Down's syndrome

Mental retardation

Symptoms

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In two recent studies (Cocchi 1996 and 1997) I investigated the way the Down persons empty their bowel, either without undergoing any drug therapy or being drug treated. Subjects with a dual diagnosis of Down's syndrome (DS) and autism or Pervasive Developmental Disorder were excluded from both samples. This because I thought that a second and heavier illness could interfere with toilet habits.

In itself, the way a person evacuates in a moment of its biological cycle can inform us at least about peripheral cholinergic mechanisms. In other terms, atonic and spastic constipation, look as opposite states of the intestinal cholinergic (parasympathetic) function, with poor or excess working.

The anecdotal reports of the mothers about their children' constipation following antibiotic therapies did not have worthy attention. On the other hand, many of us can hardly claim the so-called damage of the intestinal flora balance after antibiotics for the cause when the exit is not diarrhea.

Being these premises usually accepted, I think that toilet habits should have been more studied in the whole Down population in general, and even in DS with autistic or other Pervasive Developmental Disorders (PDD).

As it happens in every child with MR - which does not necessarily mean with mental deficiency, as for non Down persons - these persons show more troubles of vegetative functions than others.

Having nearly always asked for information about evacuating habits in all Downs and in non DS PDD since their first consultation, I found I collected a huge amount of data on this topic.

Subjects and method

I checked the reports of 38 Down syndrome PDD subjects I saw at first consultation from January 1979 to October 1996. The same for the records of 61 non Down PDD come to visit from March 1982 and October 1997. From both samples I rejected the reports of persons of more than 16 years, because this age il the conventional limit for paediatric competence, at least in Italy.

From these reports I collected sex, birth's year, age at first consultation, chromosomal anomaly (for Downs), the time the parents discovered PDD (for non Downs) and toilet habits. Only when I reported these habits in first consultation's records, they fitted for this survey. Having treated these subjects by drugs, following checkups could yet have varied them as for this behaviour.

The records report the toilet behaviour (normality, atonic constipation, spastic constipation or diarrheas) or in mixed forms. Atonic constipation means not daily evacuation with a hard and large stool. Spastic constipation means not daily evacuation with the stool in pellets, like goats do. Mixed forms vary from mixed with a prevalent habit to nearly same presence of two or more habits.

Data were processed in plain statistics and comparisons had Chi Square evaluation

Results

Only 32 reports out of 38 for Down children and only 55 out of 61, for non Downs fitted the criteria of this survey. I summarized the data in Tables 1-6.

Tables 1-2 show epidemiological and clinical data of the samples.

 

Tab 1: Epidemiological data of the DS PDD sample.

Nr. of Ss.

 

32

100.00%

M

 

19

59.38%

F

 

13

40.62%

M/F

 

146.150

 

Birth years limits

1972-1985

 

Average age +/- SD at 1st visit (months)

87.25 +/- 39.21

 

Chromosomal diagnosis:

 

 

 

Unknown

1

3.13%

 

Standard trisomy 21

30

93.75%

 

Mosaicisms

1

3.13%

 

As we can see in Tab. 1, this sample does not exactly match both Italian and International data as for gender distribution and chromosomal diagnoses Perhaps that comes out from its reduced amount.

 

Tab. 2: Epidemiological and clinical data on non Down PDD sample.

 

Nr. of Ss

 

55

100.00%

M

 

35

63.64%

F

 

20

36.36%

M/F

 

175

 

 

 

Birth years limits

1970-1993

 

 

 

Average age +/- SD at 1st consultation (months)

95.29 +/- 9.90

 

 

 

 

 

PDD diagnosis

onset

 

 

PDD n.o.s.

unknown

1

1.82%

PDD / Kanner’s type autism

<= 36 months

47

85.45%

PDD / childhood psychosis

> 36 months

3

5.45%

PDD in Tuberous sclerosis

 

2

3.64%

PDD / Rett’s syndrome

 

2

3.64%

 

This sample is a little heterogeneous but it has PDD as common feature. As for the onset, 50 cases out of 55 had it reported.

 

Tab. 3: Toilet habits of Down children, as collected during the first consultation.

Prevailing behaviour or pertinent diagnosis

Nr. of Ss

%

 

 

 

Celiac disease

0

0.00

Stool soiling (encopresis)

2

6.25

Normal behaviour

10

31.26

Normal, but dry stool

0

0.00

Normal with rare atonic constipation

0

0.00

Normal with rare spastic constipation

3

9.38

Normal, with rare diarrheas

3

9.38

Normal with rare atonic constipation or rare spastic constipation

 0

0.00

Normal with rare atonic constipation or rare diarrheas

0

0.00

Normal with rare spastic constipation or rare diarrheas

 2

6.25

Constipation, atonic

0

0.00

Constipation, very atonic

0

0.00

Constipation, atonic or rare spastic

1

3.12

Constipation, atonic or rare diarrheas

0

0.00

Constipation, atonic or spastic

0

0.00

Constipation, atonic or spastic, or rare diarrheas

 0

0.00

Constipation, atonic or spastic or diarrheas

 0

 0.00

Constipation, atonic, rarely spastic or rare diarrheas

 0

0.00

Constipation, atonic or rarely spastic

1

3.12

Atonic constipation, or diarrheas

0

0.00

Constipation, spastic

7

21.88

Constipation, spastic or rarely atonic

0

0.00

Constipation, spastic or rare diarrheas

1

3.12

Spastic constipation or diarrheas;

1

3.12

Diarrheas

1

3.12

Total

32

100.00

 

The cards always reported toilet habits, but two children had stool soiling (encopresis). In more than 34% of this sample, the parents reported toilet habits as absolutely normal at the time of 1st consultation.

 

Tab. 4: Toilet habits of non Down PDD children, as collected during the first consultation.

Prevailing behaviour or pertinent diagnosis

Nr. of Ss

%

Celiac disease (GF and CF diet)

2

3.66

Stool soiling (encopresis)

3

5.45

Normal behaviour

22

40.00

Normal, but dry stool

0

0.00

Normal with rare atonic constipation

1

1.82

Normal with rare spastic constipation

2

3.64

Normal, with rare diarrheas

5

9.09

Normal with rare atonic constipation or rare spastic constipation

0

0-00

Normal with rare atonic constipation or rare diarrheas

0

0.00

Normal with rare atonic constipation or rare spastic constipation

0

0.00

Constipation, atonic

4

7.27

Constipation, very atonic

0

0.00

Constipation, atonic or rare spastic

1

1.82

Constipation, atonic or rare diarrheas

0

0.00

Constipation, atonic or spastic

1

1.82

Constipation, atonic or spastic, or rare diarrheas

0

0.00

Constipation, atonic or spastic or diarrheas

0

0.00

Constipation, atonic, rarely spastic or rare diarrheas

0

0.00

Constipation, atonic or rarely spastic

0

0.00

Atonic constipation, or diarrheas

10

18.18

Constipation, spastic

1

1.82

Constipation, spastic or rarely atonic

1

1.82

Constipation, spastic or rare diarrheas

1

1.82

Spastic constipation or diarrheas;

0

0.00

Diarrheas

1

1.82

Totals

55

100.00

 

In 40% non Down PDD children too I found absolutely normal toilet habits, as reported during the 1st consultation.

 

Tab. 5: Comparison between samples of PDD children, being data grouped according to prevailing behaviour.

 

Prevailing behaviour

Down Ss nr.

%

Non Down Ss nr.

%

Normal behaviour

18

56.26

30

54.54

Atonic constipation

2

6.25

5

9.09

Atonic or spastic constipation

0

0.00

1

1.82

Spastic constipation

8

25.00

13

23.64

Spastic constipation or diarrheas

1

3.12

0

0.00

Diarrheas

1

3.12

1

1.82

Celiac disease

0

0.00

2

3.64

Stool soiling (encopresis)

2

6.25

3

5.45

Totals

32

100.00

55

100.00

Chi Square 3.866 with 7 df and p = 0.891

As we can see, the samples overlap each other by more than 89%, as for toilet habits. We may think that the presence of an extrachromosome 21 per se in PDD Down children does not interfere with toilet habits.

 

Tab. 6: Comparison between PDD DS and non PDD DS ( 383 cases out of 410 children who had toilet habits recorded: those of people over 16 were excluded See Cocchi 1996) grouped according to prevailing toilet behaviour.

 

Prevailing behaviour

PDD Ss nr.

%

Non PDD Ss nr.

%

Normal behaviour

18

56.26

263

68.67

Atonic constipation

2

6.25

56

14.62

Spastic constipation

8

25.00

41

10.70

Diarrhaa

1

3.12

10

2.61

Mixed balanced forms

1

3.12

12

3.13

Celiac disease

0

0.00

1

0.26

Stool soiling (encopresis)

2

6.25

0

0.00

Totals

32

100.00

383

100.00

Chi Square 31.515 with 6 df and p < 0.0009

As for toilet habits PDD DS children differ in highly significant way from non PDD DS children, a fact suggesting that each group belong to a different population.

Discussion

This survey aimed to verify an hypothesis already clearly stated in both the preceding investigations (Cocchi 1996 e 1997). I suspected that toilet habits in autistic or other PDD DS children were different from those of DS children without such a second diagnosis. Both groups show a male prevalence, as pointed out by

M/F rates. This should not seem strange, because all PDD forms (except Rett's syndrome) present male prevalence. Moreover, there is such prevalence even in Downs without any PDD diagnosis.

The distribution of chromosomal diagnosis in PDD Downs suffers from the reduced size of this sample. The lack of at least one translocation could be fully casual.

Average age at 1st consultation is fairly high, more than 7 years for PDD Downs and more than 8 for non Downs PDD children. This datum refers only to the present author as a consultant, because in every case the parents have already consulted other medical specialists, mainly in early onset autism.

As for toilet habits, while I cannot own comparison terms for non Down PDD children, for PDD Downs there is my previous research with these data recorded in 410 non PDD DS subjects (Cocchi 1996).

The double comparison on one hand with non DS PDD children and on the other hand with DS without any PDD led to deduce two noticeable indications. As for toilet habits PDD DS children 89% overlap non DS PDD children, but highly differ from non PDD DsS children. This lead to infer that the second diagnosis modify toilet disturbs, by inhibiting the presence of the extrachromosoma 21, if this anomaly should have them influenced.

The comparison between PDD DS children and non PDD DS children shows another very interesting indication. Besides a lowering of about 13% Ss with normal or nearly normal toilet habits there is a prevalence ratio inversion between atonic and spastic constipation. This latter in PDD Downs becomes the prevailing toilet disturb with 400/100 ratio of spastic vs atonic constipation, while we found it as 72/100 in non PDD Downs. The increase of spastic constipation cannot simply be imputed to a specific neropathological mechanism. There are no doubts about an excess parasympathetic action in a number of PDD DS children, at least in gut. Moreover spastic constipation is the prevailing disturb also in non Down PDD children at nearly the same rate (23.64% ws 25%)

As the prevailing disturb but not the prevailing toilet habit - which indeed is the normality - spastic constipation prevalence leads to think that this disturb does not directly correlate to the Down' syndrome in PDD Down children nor to PDDs for both groups.

Conclusions

The research on toilet habits of two sample of autistic or other PDD children, one sample of DS children, showed some interesting results: i. The tolet habits of both samples overlap more than 89%; ii. Most children of both samples have normal or nearly normal toilet habits; iii. Spatic constipation is the more frequent disturb in both samples; iv. toilet habits of PDD DS children highly differ from those of DS children without any PDD.

As for DS Ss, the usual explanation based on the phenotypical difference is a growing tautology ("Different people are different because phenotypically different"). One of these days we need to afford the problem about why this phenotypical differentiation, and if it should obey to laws of chance or those of necessity.

References

Cocchi R.: Toilet habits in downs: A survey on 492 subjects. It. J. Intellect. Impair. 1996, 9: 13-25

Cocchi R.: Toilet habits in drug treated Downs: A survey on 209 subjects. It. J. Intellect. Impair. 13-17.


Printed on It. J. Inteòllect. Impair 1997, 10: 133-138.

 

Author’s address : dr Renato COCCHI, via Rabbeno, 3

42100 Reggio Emilia (Italy)

renatococchi@libero.it

 

Italian translation

Autism

Down's syndrome

Mental retardation

Symptoms

Home Page