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Downs Syndrome

Down syndrome is a chromosomal disorder that causes impairment in physical and cognitive growth of a child. It is the most common cause of mental retardation. People with Down syndrome present with typical features, such as a flat face and a short neck. This features varies from individual to individual. It is a lifelong condition. But with appropriate care and support, children with Down syndrome can grow up to have healthy and productive life.

Down syndrome is caused by a presence of extra chromosome 21. Chromosomes carry the genes that instruct the body to develop in certain ways and to perform certain functions. Most cells of the human body contain 23 pairs of chromosomes, one set of chromosome from each parent. People with Down syndrome have 47 chromosomes. In rare cases, other chromosome problems can also cause Down syndrome. Having extra or abnormal chromosome disrupts the normal course of development and results in the physical features and intellectual and developmental disabilities associated with the syndrome.

The most common symptoms seen in children with Down syndrome are:

  • Distinctive facial features, such as a flat face, small ears, slanting eyes, short neck, arm and legs and small mouth
  • Single, deep creases across the center of the palm
  • A single flexion furrow of the fifth finger
  • Lower muscle tone and loose joints
  • Below-average intelligence

Moreover, children with Down syndrome are also born with heart, intestine, ear, or breathing problems. These conditions often lead to other complications, such as airway infections or hearing loss.

Currently, there is no standard treatment available for Down syndrome. Different treatment strategies are available based on the child's physical and cognitive needs and limitations. These include:

Physical therapies - include exercises and activities that aim at improving the muscle strength, posture and balance.

Speech-language therapies - Exercises and activities that aim at improving the communication skills, speech impairments and language understanding. This helps the children with the syndrome to effectively communicate with the peers in school and home.

Occupational therapy - Helps the child to develop skills for activities of daily living and lead a good quality of life. This includes self-care skills like bathing, dressing, eating, etc.

Behavioral therapies - These actitvities aim at understanding the compulsive behaviours in the patients and using creative strategies to prevent these behavioural responses.

Drugs and Supplements - These include amino acid derivatives that aim at improving the brain activity. But these supplements have presented with various adverse effects in many clinical trials.

Assistive devices - Intervention with these modified devices enhance the learning and task management abilities in children with Down syndrome.

The main goal of all these treatments is to develop the child's potential to the best of his/her ability, to integrate them back into society and help to lead a respectable life.

The conventional treatment strategies help in the management of associated symptoms and improving the physical and cognitive abilities, restoring the patient to daily life. Stem cell therapy on the contrary, aims to stimulate the repair mechanisms and treat the core damage in the nervous tissue along with management of impairments seen in affected individuals.

Cellular therapy using autologous bone marrow derived mononuclear cells has been proposed as a treatment strategy in various neurological disorders. These cells have the tendency to migrate and provide repair mechanisms such as endogenous neurogenesis, angiogenesis and synaptogenesis of the damaged neurons. In addition to that, these reduce inflammation and systemic immunological processes thereby enhancing the recovery process.

At NeuroGen BSI we have successfully treated over 20 cases of Down syndrome. Following stem cell therapy, patients have showed improvements in:

  • Attention and concentration
  • Memory
  • Understanding and communication
  • Interest in learning new tasks
  • Command following
  • Problem solving
  • Alertness
  • Speech and pronunciation
  • Identification and thinking ability
  • Physical activities
  • Balance and posture
  • Activities of daily life (ADL)

Moreover the radiological findings by PET CT scans have also shown improvements in the brain metabolism that correspond to the clinical improvement seen in patients with Down syndrome.

Trans-axial representation of Statistical parametric map before stem cell therapy showing bilateral hypermetabolism in frontal cortex and hypometabolism in bilateral cerebellum (Red arrowhead).

Trans-axial representation of Statistical parametric map after stem cell therapy showing reduced bilateral hyper metabolism in frontal cortex and improved metabolism in bilateral cerebellum (Red arrowhead).

  1. How can the diagnosis be made after birth?
    A diagnosis can be made on the basis of the facial features and delayed development typical of Down's Syndrome. In addition to that, a chromosomal analysis known as karotype test can confirm the diagnosis of Down's Syndrome post birth.
  2. When is the right time to seek intervention for a child diagnosed with Down's Syndrome?
    The intervention can start immediately after the diagnosis of the child. Early intervention helps the child to achieve his optimal level of development quicker.
  3. Will the other child also have Down's Syndrome?
    It is important for the parents to undergo genetic counseling in order to determine the risk when they plan for the second child. However, there are no known behavioral or environmental causes of Down's Syndrome.
  4. Are children with Down's Syndrome only born to older parents?
    80% of children with Down's Syndrome are born to women younger than 35. However, the likelihood of the child having the syndrome does increase with maternal age.
  5. Can the child get married and have children in the future? What are the chances of the baby having Down's syndrome?
    A child with Down's syndrome can get married and have children as approximately 50% of all women with Down's Syndrome are fertile and have regular menstrual cycles. However, between 35 to 50 percent of children born to mothers with Down's Syndrome have a likelihood of being born with Trisomy 21 or other developmental disabilities.
  6. Will the child's facial structure change after Stem Cell Therapy?
    Stem Cell Therapy works on improving the brain functioning in the child so consequently, the facial features remain the same.
  7. How many times is Stem Cell Therapy required for our child?
    The number depends on a variety of factors like the damage in the brain and the severity of the condition. Whether another round of stem cell therapy is required or not is determined on the basis of clinical follow up and comparison of the PET-CT Scan 6 months after the first stem cell therapy. Contingent on the result of all these investigations at the time of follow up, the need for another shot is indicated.
  8. Can there be any side effects of this treatment on the child?
    No side effects have been noted till now as no foreign entity is inserted into the child's body.
  9. Is there a chance of his condition deteriorating after doing this treatment?
    This treatment does not cause any deterioration in the condition of the child as it works on augmenting the development of the child.
  10. Can stem cell therapy lead to speech development in the child?
    Improvements in speech are noted in most of the cases. The range can be wide with some children going from monosyllabic speech to developing the ability to speak small sentences.
  11. Can the child be cured of Down's Syndrome after stem cell therapy?
    Stem cell therapy addresses the damage in the brain and boosts the mental development. It does not focus on the physical difficulties associated with the condition like hypothyroidism, heart problems, facial structure etc.

Case report 1

A 23-year-old male was diagnosed as Down's syndrome by 1 ½ months of birth, based on the genetic testing. He was a full-term C-section delivery due to breech position. He had delayed cry at birth and weighed 2.5 kg. He had no familial history of Down syndrome. His milestones including head holding, sitting, walking and speech development were delayed. He had a history of jaundice at the age of 6, for which he was hospitalized for 4 days. His IQ was calculated to be 48 which suggested moderate mental retardation.

On assessment, he was found to have poor attention and concentration, presence of aggressive behavior, command following, age inappropriate behavior, poor social interaction, and unclear speech. He was partially dependent for the activities of daily living. The Functional Independence Measure (FIM) score during the time of admission was 105.

Patient underwent EEG, MRI and PET/CT scan as a part of pre-operative investigation protocol. EEG showed normal pattern during awake state with absence of epileptic activity. MRI revealed absence of significant abnormality in cerebral hemisphere, brain stem and cerebellum. No abnormality is localized in the ventricular system, cortical sulci, basal cisterns. No mid-line shift and cerebellar fissures or focal lesion were noticed. Brain PET/CT showed hypometabolism in thalamus, medial temporal cortex and cerebellum, and hypermetabolism in bilateral frontal cortex.

He underwent stem cell therapy with autologous bone marrow mononuclear cells. Patient showed clinical and functional improvements following stem cell therapy over a period of 4 years. Drastic improvements were observed in attention and concentration, command following, understanding, identification of English and Marathi alphabets and social interaction. His aggressive behavior and tantrums reduced. PET/CT brain after six months of stem cell therapy showed improved metabolism in thalamus and cerebellum, and bilateral frontal cortex.

Case report 2

Bhanuvanshi More, a 13 year old male, known case of Down's syndrome, came with complaints of inability of speaking clearly, decreased understanding and clumsy fine motor performance.

He had a history of delayed motor and speech milestones. When he was taken to a pediatrician, on evaluation and investigation, he was diagnosed with Down's syndrome and moderate Mental Retardation. He has been in a special school since 6 years of age.

He had generalized hypotonia, poor oromotor performances, and below age comprehension. He also had clumsy hand functions, and usually took a longer time to complete daily activities. Immediately after stem cell therapy, his sitting tolerance improved. He could follow simple commands. His hyperactivity reduced. He started enjoying drawing cartoons. After 6 months, the following changes were noted:

He started calling others by name. His attention and concentration improved. He could recollect things which were taught in school. His imitation skills improved. He could now follow 2 step commands. His problem solving skills improved. He became more alert. He started speaking in sentences. His pronunciation became clearer. Identification and thinking ability improved. He started expressing his needs. His physical activities, like climbing up and down the stairs were better than before. He could go for shopping to buy 2-3 things when written and given to him. He could dispose his plate after eating, the kitchen.

Therefore, it is seen, that Stem Cell Therapy helps improve functional independence, and thus, quality of life in children with Down's Syndrome.