By Randell C. Alexander, James W. Hanson (auth.), Louise R. Greenswag R.N., PH.D., Randell C. Alexander M.D., PH.D. (eds.)
Read or Download Management of Prader-Willi Syndrome: Under the Sponsorship of The Prader-Willi Syndrome Association PDF
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Extra resources for Management of Prader-Willi Syndrome: Under the Sponsorship of The Prader-Willi Syndrome Association
Sample text
Her neonatal course was marked by hypotonia and inability to take oral feedings because of poor suck. At 3 days of age she was transferred from the hospital where she was born to a university-based tertiary care center. She remained there 5 days and was discharged with a diagnosis of cerebral palsy of unknown origin. Our story began when the doctor who delivered our daughter knew something was not normal and suggested immediate hospitalization for more tests at a children's hospital. After nne week of tests, their findings were that our daughter had some form of cerebral palsy.
Differential Diagnosis in Prader-Willi Syndrome 19 The early phase of congenital myD cannot be clinically distinguished from the phase I PWS. Hypogonadism, notably scrotal hypoplasia, in PWS helps to differentiate the two conditions in males. The clinical differential diagnosis is more difficult or even impossible for PWS girls. Muscle biopsy may be of some help since it is normal in PWS, whereas some, but not all, infants with congenital myD show nonspecific histological features of a myopathy in this stage.
Understanding the genetic aspects of PWS and provision of reproductive information are just two parts of the total genetics evaluation and counseling process. It reaches beyond confirmation of diagnosis and informative counseling and includes both support and follow-up counseling as well. Whereas it may appear that there is considerable overlap in the information provided by the genetics professionals and other members of the health care team, it is most likely that benefits accrue from purposefully repeated discussions of pertinent facts.
