Written By

DR. P. SUMITHA HEMAVATHY(PT)

- CAPAAR

WILLIAMSSYNDROME

Founder & Director

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

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.

Causes Of William Syndrome

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.

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.

Symptoms Of William Syndrome

Full Cheeks Wide mouth Prominent lips Small jaw Large ears Short / upturned nose Epicanthal folds

Other Common Features:-

2) Feeding difficulties in infancy, often leading to poor growth

(Vertical skin folds that cover the inner corners of the eyes)

1) Facial Features :-

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.

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

DIAGNOSIS OF WILLIAM SYNDROME

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

Diagnostic Test:-

Early intervention programSpecial education programsVocational training to address developmental disabilitiesSpeech therapyPhysical therapyOccupational TherapyPsychologic evaluationPsychiatric EvaluationBehavior Counselling – Manage behavior problemsPsychotropic Medication – for attention deficit disorder and anxiety

Medical Management:-

Surgery – Supravalvualr aortic stenosisRx of hypercalcemia – Diet modification, Oral corticosteroids, IV pamidronateCorrective lenses – hyperopiaPatching one eye of surgery – strabismusTympanotomy  tubes – Glitis mediaDental cleaning every 3 months

Physiotherapy Management:-

Trunk / coreShoulderHandHipFoot and ankle

Typical areas of weakness found:-

Therapeutic exercises used to treat the above weakness include :-

StrengtheningStretchingNeuromuscular Re-education

Neuromuscular stabilizationFunctional training (self care and home management)Functional training in Job/School/playDevices and equipmentsAbdominal Exercises – Transverse abdominal obliques , lower abdominalsBack extensorsLatissimus DorsiPhysioball activities for trunk and core

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?

CONCLUSIONS

Dr. P. Sumitha Hemavathy (PT)

Founder & Director

(CAPAAR) Centre for Advanced Pediatric

And Adult Rehabilitation

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