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21.09.2005:
   21.09.2005

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THE PROSPECTS OF USING THE METABOLIC THERAPY FOR THE DOWN SYNDROME TREATMENT.

A.P. Khokhlov, M.D., Professor
O.E. Blinnikova, Cand. Sc. (Med.), neuropathologist;
N.A. Dyomina, neuropathologist, Honored Physician of R.S.F.S.R.
1997

Introduction

Down syndrome is classified as one of the widespread hereditary diseases of the nervous system.

The cause of this syndrome is the trisomy of chromosome 21. Cytogenetic variants include simple trisomy form, translocation form and mosaic variant. During the last years the pathogenesis of the disease was decoded on the molecular level. It was found out that the development of dementia and some other symptoms of the disease are brought about by the increased production of the B-amyloid precursor proteins ( APP ). In addition to this the composition of APP isoforms is changed. Congenital immunodeficiency intensified the disease progress.

Therefore despite the achievements of the neurobiologic sciences no specific treatment has been worked out and as far as it concerns symptomatic and other stimulative, agents, they are of little treatment benefit. Rehabilitation (mental and physical ) is successful in increasing IQ.

The purpose of this work is to analyse the results of metabolic therapy ( amino acids and lipids ) for treating patients with Down syndrome.

Clinical analysis and investigation methods

Two groups of patients with Down syndrome at the age of 1-4 and 7-12 years were investigated. Cytogenetic analysis revealed trisomy form in 67% of the cases, mosaic form in 5% of the cases and translocation form in 8,4%. The rest of the patients have not been karyotyped.

The absolute majority of the patients (tables 1-4 ) had classic signs of the disease : mongoloid face features, macroglossia, short stature, etc., memory disorders, poor concentration of attention. IQ index was substantially less than normal ( expect 14 patients in the experimental group and 9 patients in the control group ). Hyperactivity was reported in 32% of patients in the experimental and 27% in the control group. Minor motor disorders were detected in the absolute majority of patients. Hypotonia was in 46% of cases. Other neurological disorders were recorded in 10 - 15% of cases. Somatic diseases (decompensated heart disease ) were registered in 18 cases of the experimental group and in 12 cases of the control group.

The patients were observed for two years. 8 courses of treatment were carried out. The duration of one course was 40 - 55 days. The breaks between the courses were 30 -50 days. In the courses of treatment besides the changes in the phenotype, the neuropsychologic tests and neurologic symptoms, the number and duration of infectious diseases was taken into account as well.

Principles of treatment : During each course of treatment all patients ( experimental group) received aminocomposite Aminostimunol 1 capsule 4 times daily. According to the experimental data we received, this preparation - food supplement impedes the APP formation and thus it is the main pathogenetic preparation.

The mechanism of the action of other composites is as follows :

Vitamixt increases dophamine level. Aminovil increases the quantity of GABA, the blood supply in particular parts of the brain. Sevit partly blocks glutamate receptors, eliminates hyperexcitation. Aminocomposit decreases the level of glutamine. Glucaprim diminishes the quantity of ionised calcium in the nerve cells. Neoprim activates glutamate receptors.The selection of preparations was individualised on the basis of the clinical picture and condition of the patients.

In the control group patients with Down syndrome received a spectrum of vascular preparations, vitamins, antioxidants, and where necessary antibiotics and antiinflammatory drugs.

Discussion of the acquired results

By the end of the second treatment course changes of phenotype signs were registered in the age group 1 - 4. Before the therapy 56 patients ( from 59) had short stature. After the treatment the number of patients with short stature were cut to 9 ( table 1 ). In a substantial part of children we had elimination of the squint, a shrinkage in the tongue size and changes in the scull form.

Changes in the psychoemotional sphere were registered during the first days of treatment. The patients showed some interest in drawing and playing. Patients with Down syndrome as good as healthy children could master new activities and 78% of patients caught up with their peers in motor development by the end of the first year of therapy. In 83% of the patients there was an increase in the vocabulary. Phrasal speech appeared in all but 14 of the younger patients. Far less marked changes were achieved in the case of children with the mosaic form and convulsive syndrome, congenital loss of hearing, heart disease.

The first signs of improvement were registered by the end of the second and third courses of treatment. Qualitative as well as quantitative changes due to the metabolic therapy were marked less in the case of the older children (table 3). However both groups of patients experienced a marked decrease in the number of infectious diseases with an average of up to 6 per annum. Whereas in the control group despite the preventive use of antiviral and antiinflammatory preparations as well as the use of antibiotics this indicator was never less than 15 with an average of 19.

According to Tables 2 and 4 changes in the values of the neurophysiologic tests were reliably much more expressed in the experimental group compared to those of the control groups. The patients demonstrated an improvement in the short-term memory, attention, an increase IQ.

Most of the patients (62%) of the older group demonstrated significant changes after second course, other 11% - after the third course. However, 19% of the patient instantly responded to the therapy. There was an improvement in the physical state, a decrease in fatigue, and there was registered an annual increase in stature. In 14 cases out of 19 there was an elimination of enuresis.

As far as it concerns the motor development 58% of the children reached their physiological level. Under the influence of the therapy, phrasal speech appeared in all cases. At the same time the children could succeed better in school contact with their peers much easier. By the end of the second year of therapy 30 patients (14 boys and 16 girls) went to an ordinary school. According to their teachers their studies were satisfactory.

Conclusion : Pathogenetic therapy with the use of amino acids and lipids radically alters the pathologic process for patients with Down syndrome. Under the influence of the metabolic therapy changes took place not only in the psychoemotional and motor sphere but in the phenotype signs as well. At the same time there was an elimination of immunodeficiency.

TABLE # 1. Changes in phenotype of patients with Down Syndrome (age 1 - 4 years) under the influence of the therapy*.

 

Experimental group ( #59 )

Control group ( #81 )**

Before therapy

After therapy

Before therapy

After therapy

Short stature

56

9

75

75

Mongoloid type

58

29

81

81

Macroglossia

53

18

76

70

Squint

58

17

74

76

Mouth keep open

51

8

67

60

Brachidactylia

55

32

72

72

*after 8 courses of metabolic therapy (2 year investigation)
**nonspecific treatment

TABLE # 2. Changes in neurophysiologic indices of the patients with Down syndrome (age of 1 - 4 years) under the influence of the therapy *.

 

Experimental group ( 107 )

Control group ( 92 )**

Before therapy

After therapy

Before therapy

After therapy

Memory test(units)

2,6 +0,4

4,7 +0,62

2,8 +0,53

3,0 +0,71

Attention test (millisec)***

256+47

141+34

296+55

231+72

IQ

39+12

94+16

32+15

48+12

*after 8 courses of metabolic therapy
** nonspecific therapy
*** measuring the speed of the sensory reaction

TABLE # 3. Changes in phenotype of patients with Down Syndrome (age 7-12 years) under the influence of the therapy *.

 

Experimental group ( #204 )

Control group ( #192 )**

Before therapy

After therapy

Before therapy

After therapy

Short stature

197

101

192

190

Mongoloid type

204

195

192

192

Macroglossia

192

103

181

180

Squint

203

146

184

184

Mouth keep open

193

98

179

173

Brachidactylia

200

173

188

188

*after 8 courses of metabolic therapy (2 year investigation)
**nonspecific treatment

TABLE #4. Changes in neurophysiologic indices of the patients with Down syndrome (age of 7 - 12 years) under the influence of the therapy*

 

Experimental group (204 )

Control group (192 )**

Before therapy

After therapy

Before therapy

After therapy

Memory test(units)

3,2 +0,5

5,2+0,35

3,7+0,7

4,0 +0,6

Attention test (millisec)***

74+21

41+10

68+14

58+19

IQ

54+11

122+12

61+11

73+18

*after 8 courses of metabolic therapy
**nonspecific therapy
*** measuring the speed of the sensory reaction


 
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