Diagnosis

Typically, doctors suspect Prader-Willi syndrome based on signs and symptoms. A definitive diagnosis can almost always be made through a blood test. This genetic testing can identify abnormalities in your child's chromosomes that indicate Prader-Willi syndrome.

April 21, 2017
References
  1. Driscoll DJ, et al. Prader-Willi syndrome. GeneReviews. https://www.ncbi.nlm.nih.gov/books/NBK1330/. Accessed Jan. 9, 2017.
  2. Prader Willi syndrome. National Organization for Rare Disorders. https://rarediseases.org/rare-diseases/prader-willi-syndrome/. Accessed Jan. 9, 2017.
  3. National Library of Medicine. Prader-Willi syndrome. Genetics Home Reference. https://ghr.nlm.nih.gov/condition/prader-willi-syndrome. Accessed Jan. 9, 2017.
  4. Irizarry KA, et al. Prader Willi syndrome: Genetics, metabolomics, hormonal function, and new approaches to therapy. Advances in Pediatrics. 2016;63:47.
  5. Scheimann AO. Clinical features, diagnosis, and treatment of Prader-Willi syndrome. http://www.uptodate.com/home. Accessed Jan. 9, 2017.
  6. Scheimann AO. Epidemiology and genetics of Prader-Willi syndrome. http://www.uptodate.com/home. Accessed Jan. 9, 2017.
  7. Angulo MA, et al. Prader-Willi syndrome: A review of clinical, genetic, and endocrine findings. Journal of Endocrinological Investigation. 2015;38:1249.
  8. Tvrdik T, et al. Stress and coping in parents of children with Prader-Willi syndrome: Assessment of the impact of a structured plan of care. American Journal of Medical Genetics. 2015;167:974.
  9. Mazaheri MM, et al. The impact of Prader-Willi syndrome on the family's quality of life and caregiving, and the unaffected siblings' psychosocial adjustment. Journal of Intellectual Disability Research. 2013;57:861.
  10. Hurren BJ, et al. Prader-Willi syndrome: A spectrum of anatomical and clinical features. Clinical Anatomy. 2016;29:590.
  11. Lteif AN (expert opinion). Mayo Clinic, Rochester, Minn. Feb. 9, 2017.