Best Treatment for Williams Syndrome in Bangalore | Best Doctors for Williams Syndrome treatment in Bangalore

1. WILLIAMS SYNDROME Written By DR. P. SUMITHA HEMAVATHY(PT) Founder & Director - CAPAAR

2. Williams Syndrome is a genetic condition characterized by unique facial features, delayed development, learning problems and certain personality traits. People with William Syndrome tend to have cardiovascular disease, connective tissue changes and endocrine abnormalities. Growth abnormalities are also common: - William Syndrome may cause poor growth in childhood and most adults with the condition are shorter than average. William Syndrome occurs in about one per 7500 births. It may also be known as William – Beuren Syndrome

3. CAUSES OF WILLIAM SYNDROME

4. Causes Of William Syndrome William Syndrome is caused by a deletion or missing piece of a region on chromosome 7. We have 46 chromosomes total arranged in to 23 pairs of 2. We inherit one copy of each chromosome in each pair from our mother and the other copy in each pair comes from our father. Within our chromosomes are segments of DNA (Genetic information) known as genes. Our genes are like instructions that tell our body how to form and function properly. We have over 20,000 genes in each cell of our body.

5. Individuals with William Syndrome are missing a portion of chromosome 7 that typically includes several genes. These missing genes or “instructions” results in the findings known to be common among people with William Syndrome. William Syndrome is usually caused by a random genetic mutation or error in chromosome 7. This means that most people with William Syndrome have not inherited the condition from a parent. People with William Syndrome have a 50%chance of passing the condition on to each of their offspring.

6. SYMPTOMS OF WILLIAM SYNDROME

7. Symptoms Of William Syndrome More serious featuresof William Syndrome is cardiovascular disease :-    1. Narrowing of various blood vessels is common :-       a) Peripheral pulmonic stenosis       b) Supravalvular aortic stenosis , which can lead to increased blood pressure. Arrhytmia ( irregular heart beat ) Cardiac Failure.

8. Other Common Features:- 1) Facial Features :- Full Cheeks Wide mouth Prominent lips Small jaw Large ears Short / upturned nose Epicanthal folds (Vertical skin folds that cover the inner corners of the eyes) 2) Feeding difficulties in infancy, often leading to poor growth

9. 3) Shorter than average height 4) Low body tone (hypotonia) and hyper extensible joints, which may result in developmental milestones such as sitting and walking. 5) Unique personality: overfriendly (lack of “stranger danger”), attention problems, excessive empathy, specific phobias, anxiety. 6) Sleep problems 7) Speech delay in early childhood, although speech later becomes a relative strength. 8) Intellectual disability, usually in the “mild” range.

10. 9) Endocrine abnormalities: Elevated calcium level ( particularly in infancy ), hypothyroidism, early puberty, diabetes in adulthood. 10) Farsightedness and or eyes which do not align 11) Chronic ear infections and or hearing loss 12) Dental abnormalities, such as poor enamel and small or missing teeth. 13) Scoliosis 14) Unsteady gait / tremor in adulthood

11. DIAGNOSIS OF WILLIAM SYNDROME

12. Diagnostic Test:- Fluorescence in situ hybridization Real time quantitative PCR Genomic microarray analysis Heterozygosity Testing Electrocardiogram Echocardiogram Aortography Ultrasonography TC – pertechnetate thyroid scintigraphy Thyroid function test MRI Polysomnography

13. Medical Management:- Early intervention program Special education programs Vocational training to address developmental disabilities Speech therapy Physical therapy Occupational Therapy Psychologic evaluation Psychiatric Evaluation Behavior Counselling – Manage behavior problems Psychotropic Medication – for attention deficit disorder and anxiety

14. Surgery – Supravalvualr aortic stenosis Rx of hypercalcemia – Diet modification, Oral corticosteroids, IV pamidronate Corrective lenses – hyperopia Patching one eye of surgery – strabismus Tympanotomy  tubes – Glitis media Dental cleaning every 3 months

15. Physiotherapy Management:- Typical areas of weakness found:- Trunk / core Shoulder Hand Hip Foot and ankle Therapeutic exercises used to treat the above weakness include :- Strengthening Stretching Neuromuscular Re-education

16. Neuromuscular stabilization Functional training (self care and home management) Functional training in Job/School/play Devices and equipments Abdominal Exercises – Transverse abdominal obliques , lower abdominals Back extensors Latissimus Dorsi Physioball activities for trunk and core

17. CONCLUSIONS If you have any questions to ask about Best Treatment for Williams Syndrome in Bangalore ! Or Are you still worried and confused about any syndrome, to find out more. Other popular articles by Best Treatment for Williams Syndrome in Bangalore | Dr. P. Sumitha Hemavathy (PT) Sensory Integration Speech and Hearing Disorder Which is the Best Autism Treatment Centre in Bangalore? Does a Child With Autism Reach Developmental Milestones on Time?

18. Dr. P. Sumitha Hemavathy (PT) Founder & Director (CAPAAR) Centre for Advanced Pediatric And Adult Rehabilitation

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