Gunay-Aygun et al listed indications for when to test a patient for Prader-Willi Syndrome. The authors are from Children's Hospital in Akron, Ohio, Case Western Reserve University and the University of California at Irvine.
Parameters:
(1) age of the patient
(2) hypotonia with poor suck as an infant
(3) developmental delay
(4) excessive eating
(5) other findings
Excessive eating involves:
(1) obsession with food
(2) hyperphagia
(3) central obesity if caloric intake is not controlled
Behaviors seen in an adolescent or adult may include:
(1) obsessive-compulsive
(2) temper tantrums
Age |
Hypotonia |
Develop-mental Delay |
Excessive Eating |
Other |
< 2 years |
present, with poor sucking |
NA |
NA |
NA |
2 - 6 years |
present, with history of poor sucking |
global |
NA |
NA |
6 - 12 years |
present or history of, with history of poor sucking |
global |
present |
NA |
>= 13 years |
NA |
cognitive (usually mild mental retardation) |
present |
hypothalamic hypogonadism and/or typical behavior |
The presence of the age-related findings should prompt an evaluation for Prader-Willi syndrome.
Specialty: Genetics