Prader-Willi Case Studies

The patient I chose for my case study is a one-year-old female infant. The patient was born to term, but was lethargic at birth and had feeding difficulties. At 3 months’ old, she was diagnosed with Prader-Willi syndrome. According to the U.S. National Library of Medicine, “Prader-Willi syndrome is a complex genetic condition that affects many parts of the body. In infancy, this condition is characterized by weak muscle tone (hypotonia), feeding difficulties, poor growth, and delayed development. Beginning in childhood, affected individuals develop an insatiable appetite, which leads to chronic overeating (hyperphagia) and obesity.” Behavioral and psychiatric problems are also part of the normal disease progression. Due to the complex nature of her condition, this patient’s medical history states that in addition to her physical therapist, she sees many specialists such as: a neurologist, a geneticist, an endocrinologist, an ophthalmologist, and an orthopedist. The patient had her Initial Evaluation (IE) at the clinic in February of this year. The IE by the physical therapist (PT), using the Alberta Infant Motor
These goals were a mixture of short term goals (STG) and long term goals (LTC) with varying timelines for completion. I noted STG set for 2 months and LTG set for up to 9 months. Over the course of the six months that this child has been receiving therapy she has met many of her goals. In fact, she has successfully achieved 13 of her original 19 goals. Since the IE, the therapist has added four new goals. The patient did not meet any goals during my time with her. Presently, she is still working towards the completion of her 10 remaining goals. In this setting, all goals are oriented towards play and functional movements. There were no goals related to increasing strength or range of motion (ROM) and/or decreasing pain as one might typically see in a physical therapy