Down syndrome

Mongolian Baby / Baby with Trisomy

Down syndrome (DS) is a disorder characterized by a recognizable pattern of physical features, specific medical problems and Mental retardation. Children with DS are also known as Mongolian Babies

Incidence
1:45 if the mother is age is around 20 years
1:20 if the mother age is around 45 years

Causes
DS is caused due to Chromosomal abnormalities. It can be Trisomy, Translocation, and Mosaicism

General features (Signs and Symptoms) of a child DS

• Dysmorphic face
•  Low muscle tone and loose joints (floppy child)
•  Three palm print patterns ( dermatoglyphic)
•  Brushfield spots ( color speckles in the iris of the eye)
•  Ear length
•  Internipple distance
•  Neck skinfold
•  Widely spaced first toes, etc

Along with all the above morphological presentations, global developmental delay is present. Gross motor and fine motor skills are always affected during the first two years. All children with DS are able to walk with some deviated gait pattern. Mostly parents notice cognitive delay during the end of first year. Communication delay is also common.

Associated disorders (Co-morbid conditions) with Down Syndrome
All children with DS have some or the other associated problems which need special and urgent treatment in the form of medicines, surgeries or and with assistive aids.

• Congenital Heart Disease
•  Sensory impairments
•  Visual disturbance
•  Hearing deficits
•  Orthopedic problems
•  Dental problems
•  Endocrine abnormalities / Thyroid disorder
•  Gastrointestinal malformation / Feeding difficulties
•  Seizure disorder
•  Hematological disorders
•  Skin abnormalities
•  Sleep disorder,
• Secondary sexual disorders, etc

Diagnosis Making of Down Syndrome
Due to its dysmorphic presentation, children with Down syndrome are easily identified at birth. Later on Down Syndrome is clinically confirmed with the help of chromosomal test called Karyotype.

Management / treatment of Down Syndrome
All children with Down syndrome are referred to an early intervention specialist / centre just after the diagnosis is made if there is no associated life threatening medical conditions. Studies have proved the efficacy of early intervention in improving developmental milestones and well being. In case, the infant has an associated medical condition, the infant is referred to the relevant medical specialist for timely management. Children with Down Syndrome requires different therapies at different age according to the severity of the condition and associated problems. Due to high quality early intervention services, ICD has been known as a premier institute for children with Syndrome in India. ICD provides technical supports in the form of

• Physiotherapy
•  Occupational Therapy
• Special Education / Cognition Enhancement Therapy
• Communication and Speech Therapy
• Support of Assistive Technology
• Behavioral and Psychological therapy
• Academic Support
• Vocational Training
• Open market job placement

Medicines and Down Syndrome
There is no single allopathic medicine available which can cure Down syndrome but medicine can enhance health well being and quality of life. ICD prescribed medicines to improve the general health, gastro-intestinal problems, hormonal disturbance, seizure disorders, sleeping disturbance, etc
ICD prescribed a few neuro-cognitive medicines and nutraceutical medicines in selected children also.

 Complementary -Alternative Medicines and Down Syndrome
Unfortunately, there is no such alternative medicine which can cure Down syndrome but lots of complementary and alternative therapies are available to help children with Down syndrome to have reduced impact of the condition in their lives. ICD provides medicinal or therapeutic support to individual with Down Syndrome with Acupuncture, Yoga, Homeopathy, Ayurveda, Unani, etc treatment system.

Stem Cell / Gene therapy and Down Syndrome
Down Syndrome is a genetic condition, gene therapy is the ultimate hope. We hope to hear good news from the researches in near future.
Stem Cell therapy can be beneficial to enhance the quality of life but can’t cure Down syndrome

Prognosis 
The prognosis for a productive and positive life experience for person with Down Syndrome has increased dramatically during the last few decades. Life saving cardiac and gastrointestinal surgeries, intensive medical management and early intervention can change the prognosis in most of the cases. Person with Down Syndrome enjoys independent and productive life when they get optimal support from the family, medical fraternity, schools and finally the community.  Life span is mostly 55-65 years.

Connect our expert for more information and technical support
Mail: helpicd@gmail.com