Efficacy of amino acid compounds for Down syndrome and other hereditary diseases gene and chromosomal (Angelman syndrome, fragile X-chromosome syndrome, Rett’s syndrome end others)
Experience with the use of amino acid compounds has shown the good pronounced results for the following most common hereditary diseases in our center:
- Down syndrome;
- Angelman syndrome;
- Fragile X-chromosome syndrome;
- Rett syndrome.
Our long-term experience in administration of amino acids in infants with Down syndrome shows well pronounced results in all cases. Children with Down syndrome improve in speech, cognitive function, physical developments and social behavior.
In many cases the typical face features of this group of infants who have received amino acids become less expressed.
All children who received amino acids in the long-term do well attending neighborhood schools alongside peers who don't have Down syndrome.
Individuals with Down syndrome differ considerably in their language and communication skills. Some of the infants with Down syndrome could develop mild speech and mental retardation, whilst some of them could have severe forms of mental and speech retardation (some of them never learn to speak). Getting amino acid treatment early – often when they are just babies – can lead to healthier, happier and more independent lives. The children treated with amino acids usually attend schools, do well alongside other children, do sports, develop well physically and some of them have only slight, unapparent features of a Down syndrome person.
Individuals with Down syndrome differ considerably in their language and communication skills. Some of the infants with Down syndrome could develop mild speech and mental retardation, whilst some of them could have severe forms of mental and speech retardation (some of them never learn to speak). Getting amino acid treatment early – often when they are just babies – can lead to healthier, happier and more independent lives. The children treated with amino acids usually attend schools, do well alongside other children, do sports, develop well physically and some of them have only slight, unapparent features of a Down syndrome person.
In cases of children with Angelman syndrome, administration of amino acids reduces seizures occurrence, muscle hypotony and ataxy, improves fine motoric and they start to appear interested in the surrounding environment.
Children with fragile X-chromosome syndrome who receive amino acid treatment, clearly show a reduction in hyperactivity, improved concentration and attention and also of fine motoric and cognitive abilities.
In cases of children with Rett’s syndrome, there was a reduction in the frequency of epileptic attacks, ataxia and an increased interest in the surrounding environment.
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The clinical image of the majority of hereditary diseases includes various neurological symptoms and mental and speech retardation. The character and seriousness of motor development deviations may vary from minimal static – kinetic insufficiency up to serious forms of ICP, and speech and intellectual – from minimal psycho – speech insufficiency up to serious forms of mental affections, oligophrenia, disartria, and dysphasia. In relation to communicative development – from insignificant specific features of behavior in relation to the surroundings (increased excitability, incommunicativeness, limitation of interest to the surrounding environment), up to heavy forms of infantile autism.
Also, the given psycho-neurological symptoms are frequently not direct but a mediated consequence of the initial genetic defect. The environmental factors, together with other genetic factors, play a significant role in their development.
In such cases there is no detection of irreversible organic damage of neurons, including their microstructure, but mostly functional damage from the side of nerve cells occurs. In cases of genetically affected problems with psycho-neurological functions, the development of the central nervous system to a significant level keeps its plasticity and compensatory possibilities, whilst the neurons keep their ability to regenerate and develop. Even in relation to the above stated, therapeutic correction is fully possible.
The Down syndrome is an inherited disease caused by a defect of the 21 chromosome and the population frequency reaches 1:700. The clinical image of Down syndrome is characterized by specific features of phenotype, problems in the development of internal organs and intellectual and speech retardation. In the course of the first year of their lives, children with Down syndrome experience a delay in mental and motoric development, followed by a development of oligophrenia with a debility level of up to 55-70%. Problems appear with engaging in new types of activity, the majority of affected children suffer from an insufficiently developed emotional sphere, idleness and uniformity of emotions.
In the course of recent years, many research projects have been aimed at decoding the pathogenesis of Down syndrome on a molecular level. It has been proven that clinical image is not exclusively a result of the "effect of genes dose", but a consequence of mutual influences of many genetic products with impaired expression, including genes of the chromosome 21 amongst others In cases of Down syndrome the neuro-pathological processes include factors of transcription, participating in cellular oxidizing processes, as well as in the process of apoptosis. It has been proven that the main reason for physical and motion breaches is the accumulation of β – amyloide in nervous system cells.
Amino acid therapy reduces the contents of β – amiloide, whilst strengthening the catabolic processes and also improving the blood-supply of the brain and increasing the power potential of neurocytes.
