Also known as trisomy 21 (presence of a copy of the third chromosome), it represents an incurable, one of the most common genetic alterations, reflected through variable learning disabilities and certain physical characteristics. The term was coined by John Langon Down in 1866 and the cause (extra chromosome) was identified in 1959.
In developing countries and where prenatal screening is not carried, it is usually diagnosed after childbirth. However, prenatal screening can also help us in detecting the trisomy 21 or Down syndrome, if found suspected, further tests are advised to find the risk of developing Down syndrome. The Down syndrome child is usually born to genetically normal parents, and no clear mechanism has been found out to explain the presence of three chromosomes in genes in place of two.
Individuals with Down syndrome have characteristic physical and intellectual variations. But the most common struggling issues with which they suffer are:
The characteristics of Down syndrome present variably in each and every case. The prominent and common characteristics may be:
These characteristics are commonly associated with other anomalies like hypothyroidism, congenital heart disease, autoimmunity, epilepsy etc.
The intelligence quotient (IQ) may vary from person to person. It may be good, poor or low depending upon the presentation thus the neurological disability may be mild, moderate or poor respectively.
In Down syndrome, an individual usually has better understanding skills rather than speech skills, due to which he may do fairly well in society and improve their social skills over the time, but as there may be vocal impairment the coordination and active communication may become troublesome.
The behavior problems are not as great as other neurological disorders, however, mental illness and autism occur in a fairly good number of individuals. Since, a neurological as well psychological disturbance depends upon genetics, environment, and learnings, Down syndrome individual may develop some symptoms when they approach adulthood because by that time they are active interaction with the society and are exposed actively to social environment.
The diagnosis can be pre-birth and post-birth. If a pregnant female is suspected to have trisomy 21 (on ultrasound or blood tests), invasive diagnostic tests like amniocentesis or chorionic villus sampling are performed. But these techniques usually have some false positive reporting and an increased risk of miscarriage, therefore, the diagnosis is not simple during pregnancy. When found positive the rate of elected abortion varies widely.
Diagnosis at birth can also be suspected on the basis of the physical appearance of the new-born. When suspected chromosome mapping may be advised.
Management of Down syndrome is a relative term. The management has certain goals which can be enlisted as:
Educate: The education plays an important role in understanding the pathophysiology of Down syndrome and thus it can prepare an individual, parent or a guardian to accept the reality. A well-educated parent, guardian and an individual know the limits and treatability of the case. Education programs not only aim at imparting short-term knowledge but regularly sensitizing regarding various important aspects of Down syndrome.
Treat – Manage: In Down syndrome, along with the characteristic features, there are certain conditions which can be treated medically and with the aid of therapies. For example,
It is recommended that early screening and apt therapy helps a child to grow at a satisfactory pace. Therapies like speech therapy, occupational therapy, physiotherapy, etc. must be adopted at right time.
Screen: The most important aspect always remains alertness. The more alert an individual is, easier things can go. Down syndrome individuals must be screened for all possible alterations in health at regular intervals of time. For example, starting from the birth the screening schedule may be:
Follow: Follow the footsteps. A doctor’s/physician/therapist advice is to be followed regularly to counter the Down syndrome effects on life.
Differentiate: A very important aspect of Down syndrome is the differentiation from other neurological/psychological conditions. As an individual with this condition may have other co-morbid similar conditions, the responsibility lies in the identification and right treatment of the condition. For example, if a child is suffering from autism and depression, it is advisable to treat that condition first.
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The concept of self-help and support group has boomed with the increasing awareness regarding Down syndrome. These groups aim at exchanging knowledge and ideas to deal with Down syndrome and to live a better life. Broadly, we can extract that groups:
Below are some of the organization for Down syndrome help groups:
*Please check the credentials of an organization before visiting their website or office. Not related to Vivid Homeopathy in any form.
Homeopathy heals holistically!
Identify the Cause: In the homeopathic system of medicine, prime importance is given to the underlying cause of the dis-ease, symptoms, and signs. Through a holistic approach, the aim is to find out the deviations from health. As in case of Down syndrome, because of the presence of an extra gene, the characteristic physical and mental symptoms appear. Now, this genetic makeup can’t be altered but the expressions can! The identification of cause can be of great help. Homeopathically in such cases, the prenatal and family history is very important. There are many medicines in homeopathy which are prescribed according to the prenatal, natal, past and family history. Therefore, if your homeopath asks you in-depth questions you should provide the best information to your knowledge.
Constitutional – Individualized Medicine: The term constitutional and individualized medicines are commonly used in homeopathy. The aim of constitutional treatment is to find out the best possible individualized remedy for a case. The aim of such treatment is to improve the immune system as a whole so that a person with Down syndrome doesn’t catch the infection, allergies and other diseases easily and also the recurrent tendency to a particular disease can also be reduced.
Acute – Chronic Diseases: In Down syndrome, there may be acute diseases, acute exacerbation of chronic disease and recurrent presentation of chronic diseases. Therefore, if we study the in-depth of a case we know the difference between an acute condition and acute presentation of a chronic disease.
Treat – Manage – Palliate: This concept is very easy to understand. With a thorough knowledge of disease and homeopathy, we categorize patients according to treatable, manageable and cases where palliation is the only option categories. For example, recurrent tendency to catch a cough and cold is treatable, delayed milestones can be treated to some extent, coeliac disease can only be managed and cretinism needs only replacement therapy (palliation).
First – Aid Kit: Likewise the educative material, individuals, parents, and guardians can keep a homeopathic first aid kit at their home to treat the minor symptoms and ailments homeopathically. The homeopathic medicines are safe, effective, affordable and easier to administer. Therefore, these kits can be used in consultation with the physician at odd hours also.
Improvement is the Keyword: Homeopathic medicines aims to improve the immunity and nervous system, therefore, these help in improving the cognitive and intellectual abilities of an individual suffering from Down syndrome.
Add-on: Many times it is commonly mistaken that homeopathic medicines cannot be opted along with other medicines or therapies. It is now well understood that homeopathic medicines can be safely taken along with other medicines or therapies. The patient is asked to maintain a gap of approx. 30 mins between different medications.
Following medicines are commonly used in homeopathy as constitutional or specific or both in Down syndrome individuals:
Dose – Potency: The dose and potency are dependent upon symptoms, chronicity of the case, age, and other factors. Usually, low potencies (x, 6, 30) are commonly used in acute conditions and high potencies (200, 1000, CM etc.) are used in neurological/psychological and irreversible conditions.
There are also few homeopathic remedies called as nosodes which are used as intercurrent remedies to improve the immunity.
This article does not intend to replace the in-person consultation. The facts are for general purpose and public awareness only, and must not be taken as Medical Consultation in any form. For a consultation, treatment and specific queries, you need to contact your healthcare professional.
Not for Medico-legal purposes.
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For reprint and collaborations please contact Dr. Saurav Arora at vividhomeopathy@gmail.com