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DOWN SYNDROME

Down Syndrome Protocol

Protocols for Metabolic Wellness with Down Syndrome

 

Make a smoothie:

AgeLess 

LifeSupport 

AntiAgeMax 

NutrImmune 26Y 

Ultra Thiamine B1 

Omega Supreme Pro 

Cell Detox Glutathione 

Cell Defense PLUS

Nutriodine

VitaMineralMIX

 

 

Advanced:

 

MitoThyroid 

NeuroGEN 

Minerals PLUS 

Cogniton Plus 

Brain Power
NutriTRALA

NeuroGEN 

Super Folate

Power Methyl B12

CDP Choline .

Uridine 

Ultra ThiamineB1

 

PRINCIPALS OF DOWN SYNDROME METABOLIC SUPPORT:

•1]  Correct Deficiencies – Mg, Zn, Se, FolinicAcid …

•2]  Detoxify Heavy Metals – Mercury, Aluminum…
•3]  Protect Mitochondrial and    Cellular Membranes – e.g. Long Acting ALA, Tocotrienols, C3, Quercetin, CoQ10, PropionylL-Carnitine…
•4]  Support Neurotransmitters – Glycerophosphocholine…
•5]  Antipathogenics& Probiotics

•6]  Oral and Systemic Enzymatics

 

 

•Five Genes That Cause Down Syndrome:
Cq21 – Cq22 long arm of Chromosome 21
Gene Dosage of Five Genes ++
•1]  Cytathionine Beta Synthetase – Folate  trapping and Homocysteine  Elevation

•2]  SOD 1 Zinc / Copper Superoxide Dismutase àNO/OONO PeroxynitrateSynthaseFree Radical Glial Cell Neuron Damage àNeuron apoptosis and dendrite and synapse atrophy

•3]  BACE, an aspartylprotease, has been identified as the beta-secretase – Amyloid Beta Tau Protein Excess with Plaque formation of Alzheimer’s type

•4]  MNB Minibrain a lso colocalizes with dynamin1 (DYRK1A), a substrate of MNB kinases – Regulate Dendrite Differentiation

 

•5]  TT2F/h Gene Chr21 cells in early differentiating neurons  – Affect Neuronal Outgrowth, Proliferation and Differentiation

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DOWN SYNDROME ::
Symptoms The symptoms of Down’s syndrome vary from child to child. They can be intense to mild, depending on the body’s constitution. It is obvious to note that children with Down’s syndrome have a low IQ, and decreased mental activity. These children cannot make informed decisions, as activities controlled by the brain are jeopardized to some extent. Moreover, there are certain kids which show delayed motor development responses along with delayed development of language ability. What’s more, the power to make a cognitive analysis also fails at times. Some of the common symptoms seen in the babies suffering from Down syndrome include: – Presence of deep creases in either both or one of the palms – Occurrence of white spots on the iris of the eye. However, this is not a conclusive symptom alone. – Poor development of hands and feet, as the result, the child develops small palms and hands. – Kids suffering from Down syndrome have loose muscles and ligaments, giving them a deformed appearance altogether. – Kids suffer from Celiac Disease – Increased risk of development of congenital heart disease – Development of hearing problems – Kids with Down’s syndrome also suffer from eye problems, such as cataracts, thyroid dysfunctions, skeletal problems, dementia, etc. Down’s syndrome is a genetic disorder, and you can’t simply reverse the genetic information all by yourself. All you can do is take care of your child and give them all the love and support they require. Their rehabilitation is important, which is why you need to be in constant touch with a medical professional. Any child with Down’s syndrome will always be a part of society, and you can do your bit to make them lead as normal a life as possible. Accept every child with Down’s syndrome for what he or she is. That could be the best treatment these children may ever need.

 

Down Syndrome – Mongolism Or Trisomy 21

Down syndrome or mongolism is a condition in which a person is born with certain distinctive features : flat face, short neck, and a degree of mental delay (mental retardation). Although Down syndrome cannot be treated, most patients can lead a normal life. With the proper care and help they need, children with Down syndrome can have a spectacular growth and development and can become healthy and happy adults. Down syndrome was described in 1861 by Seguin in 1866 by Langdon-Down who specify the clinical features of this syndrome and in 1959, Lejeune specifies the chromosomal etiology.Frequency of Down syndrome is 1.5 per 1000 infants and sex distribution is 3 to 2 for male gender. It is considered that in the occurrence of Down syndrome is involved advanced maternal age, especially over the age of 35. At mothers aged 28 years it is recorded an increased frequency of births with Down syndrome, but this corresponds to a maximum number of births at this age. The risk increases with maternal age, as follows:

  • Under the age of 30 years, the risk of having a baby with Down syndrome is less than 0.1%;
  • Between 30 and 40 years, the risk of having a baby with Down syndrome is less than 1%;
  • Over 40 years, the risk of having a baby with Down syndrome is more than 1%;
  • Over 45 years, the risk of having a baby with Down syndrome is 3,3%;
  • Over the age of 50 years, the risk of having a baby with Down syndrome is about 15%.

Down Syndrome Causes And Karyotype

Down syndrome is caused by an abnormal cell division, most often in the ovule before conception or at the moment of conception. Less frequently, abnormal cell division can affect the spermatozoon at the moment of conception. The factors that cause cells to divide abnormally are not known. Genes are grouped in the form of chromosomes. Normally, a child inherits 46 chromosomes, 23 chromosomes from each parent . After the abnormal cell division resulting extra genetic material, usually an extra chromosome. In most cases of Down syndrome, extra genetic material is represented by a extra chromosome 21 , which means that each cell in the body has three copies of chromosome 21 instead of the usual two copies. The extra genetic material disrupts the normal course of development, causing the characteristic features of Down syndrome.
In terms of cytogenetics, Down syndrome can be:
  1. Free and homogeneous trisomy 21 in 92.5% of cases of Down syndrome. These cases are generally cases with de novo appearance, in which is involved maternal age. Karyotype is 47XX+21 or 47XY+21 and the cause is represented by a chromosomal non-disjunction of maternal origin (90%) or a chromosomal non-disjunction of paternal origin (10%).
  2. Mosaic trisomy 21 in 2.5% of cases of Down syndrome. These are sporadic cases, showing karyotype 47XX+21 / 46XX or 47XY+21 / 46XY. Phenotypic manifestations in this type of Down syndrome are more attenuated.
  3. Trisomy 21 with translocation in 5% of cases of Down syndrome. These are cases with de novo appearance, in which is involved a transmission of a paternal translocation. The karyotype is 46XX or 46XY with a translocation between a supernumerary chromosome 21 and, most commonly, a chromosome of group D (pair of chromosomes 13, 14 and 15).
  4. Partial trisomy 21, very rare and is represented by cases of Down syndrome where is an excess of genetic material represented by an extra chromosome 21 which has deletions on q arms.
The study of these cases allow the identification of critical region on chromosome 21 which is responsible for Down syndrome phenotype. This critical region is located on 21q22 band of chromosome 21.

The Clinical Presentation Of Down Syndrome (signs and symptoms)

General Characteristics of Down Syndrome :
Most children with Down syndrome have some of these physical traits:
  • Short stature : the child usually have slow growth rate, and in adulthood their height is lower than average;
  • Low muscle tone : a child suffering from Down syndrome may have less muscle strength than other children of the same age;
  • Short neck, thick with fat and excess skin : usually this feature becomes less obvious as the child grows;
  • Short and stocky limbs, some children may have a wider space between the thumb and second finger of the foot;
  • One fold in the central part of the palm : it is called the simian line.
Down syndrome associates malformations of organs and systems in 45% of cases:

Fascial Features:

 

  • Ears with modified form : usually small and with a low placement ;
  • Abnormal mouth and tongue: mouth is often open, exfoliative glossitis, tongue with scrotal appearance (in adolescents and adults), pseudomacroglossia;
  • Flattened nasal bridge : flat nose portion located between the two eyes (nasal bridge) is frequently clogged;
  • Brushfield’s spots : colored spots on the iris, these spots are not affecing the sight;
  • Malformation of the teeth: baby teeth may grow later and in an unusual way, agenesis of lateral incisors.

 

Skeleton and skin features: short arm, finger clinodactyly of the fifth finger with a single flexion crease, flat foot, increased space between first toe and second toe, xerosis, hyperkeratotic lesions, alopecia, vitiligo, foliculitis and recurent skin infections.
Psychomotor retardation: hypotonia occurs at birth, but mental retardation is less evident at birth. Children are affectionate, jovial and present difficulty in speech, like the game, arrange objects in order, the memory is not affected. They presents a moderate to sever mental retardation with an IQ = 20-85, with a average of 50.

Down Syndrome Antenatal Diagnosis

Antenatal diagnosis of Down syndrome can be done by cytogenetic analysis of amniotic fluid or chorionic villi biopsy, which is done if there is suspicion of Down syndrome by maternal age. Antenatal diagnosis of Down syndrome can be also confirmed by fetal ultrasound.
Genetic consultation:
The risk of recurrence of Down syndrome varies according to karyotype abnormalities. Thus, if homogeneous trisomy 21 exists, then the risk of recurrence is 1% – 2%, and in the case of trisomy 21 with translocation, the risk of recurrence can be up to 20%.

 

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