DOWN SYNDROME

Down syndrome is a genetic disorder, which is caused due to trisomy 21 ie. by the presence of a third, extra copy of chromosome 21,which is characterized by mongoloid facies, developmental abnormalities and mental retardation & hypotonia. It is the most common & the best known chromosomal syndrome in humans.

There are hints in the historical records that an awareness of the condition of Down syndrome existed perhaps even thousand years ago. Images in old paintings & ancient stone carvings suggest that this might be so. Throughout history it has always been plain that people need to explain minorities, those who were in some way or another different or deviated from the norm. People with mental retardation were dealt with based on socio-cultural belief structures & were isolated, punished & tortured. In 1866 J. Langdon Down provided the first formal description of Down syndrome.Down in attempting to classify the various forms of ‘feeble mindedness’ that he had observed, concluded that individuals with mental disabilities belonged to various ethic classification, including the “Ethiopian & Mallay varieties”. Down’s syndrome he felt belonged to the “Mongolian family”. Therefore it is also called Mongolism.As recently as 1970, the encyclopedia Britannica listed the conditions of Down syndrome under the heading ‘MONSTER’. (1974 edition shows it under the appropriate heading of Down syndrome)’Idiot’ was still being used as a medical description of severely mentally handicapped people well into the 1960’s.

  • Incidence in general population is 1 in 600 to 800 live births but the incidence among all conspectuses is more than double this frequency because more than half are spontaneously aborted during early pregnancy.
  • The outlook towards the mentally challenged has undergone tremendous modifications from time to time.
  • 1866 J. Langdon Down provides the first formal description of Down syndrome.
  • 1896  Smith attempts to treat Down syndrome with drug (Thyroid hormone extract) for the first time.
  • 1920 The “Eugenics Scare” leads to a massive residential institution construction programme. Many of those institutionalized were persons with Down syndrome.1940s –
  • 1950s world war II heigtens awareness that the human rights of vulnerable people must be establised & protected.1959 – Lejeune and his associates discover that Down syndrome is a chromosomal disorder.
  • 1960s 1970s – Deinstitualization begins on a national scale, prompted by litigation. Head start helps to spawn early education efforts for children with Down syndrome.
  • 1973 – The Down’s syndrome congress (now the National Down syndrome congress) is formed.
  • 1970s 1980s – Passage of major social, educational and vocational registration.
  • 1982 – The case of baby Doe leads to a new application in rehabilation Act of 1973, establising the right of new born children with Down syndrome to customary medical care.

These may be divided into factors that are basically endogenous and factors that are basically environmental or exogenous.

ENDOGENOUS : Maternal age – Relationship between advanced maternal age and increased risk of Down syndrome was suggested a century ago. With increasing age, eggs present in the ovaries are more likely to undergo the process of non-disjunction where by an extra chromosome 21 is retained at the initial all division of the developing embryo. This results in Down’s syndrome.

EXOGENOUS : Prenatal diagnosis – prenatal diagnostic procedure like Amniocentesis and chorionic villus sampling have been used for chromosomal study.

X- irradiation, an extensively studied potential hazard, must be viewed at this time as a serious candidate for producing trisomy only when small doses accumulating over a time period are coupled with a long lag period to conception (Alberman, 1972). Start ford at al (1988) note that their review does not justify any thing other than the continued careful use of x-rays. 

Use of oral contraceptives around the day of conception, as opposed to other times or duration of ingestion has been proposed but again there is no clear picture.

Vaginal spermicides, smoking, alcohol and seasonal variations all remain unproven culprits.

General – Mental retardation, hypotonia. 
Craniofacies – Flat occiput, oblique palpabral fissures, epicanthic folds, brush field, Spots (speckled irides) protruding tongue, prominent, malformed, low Set ears, flat nasal bridge. 
Thorax – Congenital hearts disease mainly septal defects. 
Abdomen & pelvis – Decreased acctabular and iliac angles, small penis, cryptorchidism. 
Hand and feet – Simian crease, short, broad hands, hypoplasia of middle phalanx of 5th finger, gap between 1st and 2nd toes.
Other features observed with significant frequency: High arched palate, strabismus, observed with significant broad, short neck, small teeth, furrowed tongue, intestinal atresia, imperforate anus.
Children with Down’s syndrome have an increased tendency to infection. There are many conditions of an abnormal immune response in Down syndrome e.g.: – an increased incidence of antommune disease. Elevated serum level of antithyroid autoantibodies and increased risk of hypothyroidism are most well known. Coeliac disease has to be suspected if there are signs of malabsorption and growth retardation in a child with Down syndrome.

BEHAVIOUR & PSYCHIATRIC DISORDERS:-Behavioral problems like hyperactivity, Autistic behaviour are not uncommon in Down syndrome. Depressive disorder, might be more common in adolescents and young adults with Down syndrome. Depression is due to loneliness and might be helped by increasing the person’s social contracts. Adults with Down’s syndrome have been formed to have an accelerated aging process. Down syndrome Dementia is uncommon with any clinical symptoms before the age of 40 years (<5percent). Signs of Dementia is formed in 20 to 25 percent of persons with Down syndrome in their fifties (wisneiwski, et.al.1985). Others have reported that at the age of 54 years about 50 percent of the individuals with Down syndrome have developed signs of dementia (Johnson et.al.1991). Epilepsy is less common during childhood (4 percent), but infantile spasm occur more in children with Down syndrome. Seizure disorders are, however, more common in the third decade mostly as myoclonic epilepsy.

When, after delivery, a newborn infant is suspected to have Down syndrome, a thorough physical and neurological examination should be carried out in order to establish the clinical diagnosis. A chromosomal analysis should be performed which will establish the karyotype and can be used for genetic counseling purposes. If the child with Down syndrome has regular trisomy 21, the recurrence risk is about 1 percent. If the child has a Rebertsonian translocation, the parents will have to undergo a chromosomal analysis since one of them might be balanced carrier, with a much higher recurrence risk. It is very essential that the child should undergo periodic checkup with a physician so that various conditions mention before are diagnosed earlier & treated.

Persons with Down syndrome run an increased risk of developing disorders in various organs and of multiple congenital malformations. However, better medical care and changing attitudes during the last 20 to 30 years have had a profound effect on the health of individual with Down syndrome in many countries. Previously, most persons with Down syndrome died during childhood but with better medical care, the median life expectancy for persons with Down syndrome has increased to more than 55 years (Baind and Sadovniek, 1989).With proper medical care and parental support, people with Down syndrome are able to lead a quality life.

Homoeopathy is a holistic system of medicine. It treats the person as a whole. A detailed Homoeopathic case history helps to understand the problem in adequate depth. Homoeopathic medicines are basically immunomodulators. They promote native immunity and have a capacity to improve the resistance power of the individual which helps to deal with recurrent infections. A detailed Homoeopathic case history gives an insight into the individualizing aspect of the patient. A properly selected Homoeopathic medicine stimulates the overall growth and development of the individual at various levels viz. physical, emotional, intellectual. It helps to tap and utilize a person’s capacities to the fullest & entrenches the person’s performance.
Behavioural problems present with Down syndrome respond very well to Homoeopathic treatment.
The M.B.Barvalia Foundation promotes Holistic Care. So in addition to Homoeopathy other therapeutic options such as speech therapy, occupational therapy, remedial education and psychological assessment are used. Cases are handled with the help of a multidisciplinary team with various specialists working under one roof. The entire therapeutic programme is well co-ordinated and periodic panel meetings are held to ensure HOLISTIC INTEGRATED CARE.
Occupational Therapy Intervention Occupational Therapy Intervention uses play therapy and active participation of the child within a therapeutic environment to provide stimulation for motor, mental and sensory problems associated with Down’s syndrome.
These include: Tackling Balance, Posture, gait problems through exercise therapy. 
Co-ordination & Hand function Training. 
Sensory Integrative Therapy. 
Social skills Training & Group therapy. 
Education & Training for performing daily skill activities.

Down syndrome children exhibit multiple deficits of Inadequate attention and concentration. Communication problems including dysfluencies. Hearing deficit.A speech language pathologist Assesses and describes articulation and phonological disorders. Assesses and describe long urge disorder. Assess other communication problems including dysfluencies. Recommendation for hearing screening or Audiological Assessment.Prognosis is generally good as compared to M. R. children due to fairly adequate comprehension skills and good intellectual capacity.