Down's Syndrome Clinic

Understanding Down’s syndrome:

Down’s syndrome is caused due to alterations in genes, called 21 trisomy. It is associated with characteristics like Mongolian face, short height, slanting eyes, limited speech and language output, lower level of intelligence, having amicable nature.

Symptoms: 1. Flat facial features, with a small and flat nose, upward slant to the eyes, small skin folds on the inner corner of the eyes, Small, abnormally shaped ears, enlarged and fissured tongue that tends to stick out, high arched palate 2. Short hands, Single deep crease across the center of the palm, excessive ability to extend joints, Low muscle tone leading to floppy posture, Extra space between the big toe and the second toe, 3. Obstructive sleep apnea (Difficulties during sleeping due to blockages in the upper airway) 4. Low IQ with Mild- Moderate Intellectual Disability 5. Hearing loss, mostly conductive loss due to Otitis Media / Ear Discharge 6. Speech and language development is not age appropriate Diagnosis: 1. Genetic testing can tell you about genetic problems with more than 99 % accuracy. 2. Biochemical markers along with ultrasound findings increase the detection rate of Down’s syndrome during pregnancy. 3. A psychologist will evaluate child’s mental age and IQ. 4. Speech language pathologist will administer few standardized tests to find out the speech and language difficulties. 5. An audiologist will find out whether the child has hearing loss or not and the degree and type of hearing loss. 6. A special educator will assess his/her reading and writing efficacy. 7. A physiotherapist will evaluate his/her muscle tone and flexibility. Prognosis: 1. Down syndrome has a better prognosis in comparison to most other disorders caused by an extra chromosome, such as trisomy 18 or trisomy 13. 2. The average life expectancy is about 60 years, and some affected people live into their 80s. Treatment Process: Margdarsi treat the Down’s syndrome patients by planning the intervention strategies for long term and short term therapy goals. A multidisciplinary approach is needed for the complete rehabilitation of the child with Down’s syndrome: a) Physiotherapist deals with developmental issues and the muscle strength, movement coordination b) Hearing loss assessment, fitting hearing aids and hearing training is done by an Audiologist for management of hearing loss. c) Speech and language therapy is provided using various techniques to develop communication skills. d) Special educator helps in developing child’s reading writing skills and overall academic performance for possible integration in mainstream schools.