Prader-Willi Syndrome

Prader Willi Syndrome is a genetic disorder where a child gets delayed milestones, learning difficulties and behavioral disorders. There is a very distinguished feature of Prader Willi syndrome is excessive appetite (always hungry).

Incidence

  • 1 in 10,000-30,000 children

Signs and Symptoms

  • Hypotonic/ low muscle tone
  • Poor or weak cry
  • Feeding difficulties-Sucking and chewing
  • Restricted growth / short stature
  • Overeating habit, becomes very overweight very early
  • Peculiar behaviors, very stubborn
  • Sexual development is always a concern
  • Learning difficulties
  • Not so dysmorphism but has a narrow forehead at the temples, almond shaped eyes, narrow bridge of the eyes, etc
  • Pitching own skin is another major problem
  • Sleep disorder
  • High pain tolerance
  • Postural disorders like scoliosis
  • Sometimes presence of osteoporosis

 

Types / Variety

  • Children with PWS can be minor or major affected

Causes

  • PWS is due to missing genetic materials in a group of gene on chromosome number 15. It is mostly related with paternal side

Diagnosis Making

  • On the basis of developmental profile and genetic testing, PWS is diagnosed
  • There is a checklist available to categorized the children with PWS as minor or major

Treatment / Management

  • There is no cure so treatments are symptomatic. Both Medical and therapy services are required for children with PWS.

Medical Treatment

  • Hormonal therapy

Habilitation Therapy

  • Physiotherapy
  • Occupational Therapy
  • Special education
  • Behavior therapy
  • Diet Therapy

Prognosis

  • With proper early treatment and therapies, most individual with PWS live normal life. 

If you want to know more about Prader Willi Syndrome or want to consult us, please contact us at
Mail: helpicd@gmail.com, Whatsapp: +91-7838809241, Voice Call: +91-11-41012124

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