Kaitlin North

NURS 3731L

Angelman Syndrome vs. Prader-Willi Syndrome

Angelman syndrome and Prader-Willi syndrome are both conditions where the same part

of the 15th chromosome is missing, but the disorders have different origins. In Angelman

syndrome, the maternal half of this region of chromosome 15 is deleted. In certain areas of the

brain, only the maternal half of chromosome 15 is active, but since it is deleted with this

condition, the gene UBE3A is missing, resulting in neurological dysfunction. On the opposite

side of the spectrum, Prader-Willi syndrome results when the paternal half of the region in

chromosome 15 is deleted, although the genes affected are not yet known.

Angelman syndrome typically affects the nervous system, resulting in delays in

development, severe speech impairment (although they learn to communicate through other

means), intellectual disability, ataxia, and epilepsy. Physically they have very fair skin with light

hair, microcephaly, scoliosis, a hypotonic trunk and hypertonic extremities. In infancy they have

trouble with sucking and feeding, and do not reach milestones. Some have specific facial

characteristics, including a flat back of the head (brachycephaly), prominent chin, deep set eyes,

and a very wide mouth with widely spaced teeth. Usually they have very happy demeanors, and

have unprovoked fits of laughter and smiling, and are easily excited with attention span

difficulty. They also have trouble sleeping and tend to need less sleep than the average person,

although this does level out some as they age.

Prader-Willi syndrome is characterized by hypotonia, chronic hunger and overeating

(hyperphagia), poor growth, and developmental delays. People with this condition usually
become obese and develop type 2 diabetes. They have some intellectual impairment and learning

disabilities, as well as behavioral problems, including temper tantrums, impulsiveness, and are

very stubborn. They also have some specific facial characteristics, such as a narrow forehead,

short stature, small hands and feet, and a triangular mouth. Like Angelman syndrome, they also

tend to have very fair skin with light hair, and have trouble sucking and feeding in infancy. Both

males and females have delayed or incomplete puberty, underdeveloped genitalia, and tend to be

infertile as a result of this.

For both conditions, genetic testing can confirm the diagnosis. Treatment is limited to

controlling symptoms for Angelman syndrome, especially in relation to their seizures. A

combination of diet control, hormone therapy, and behavior therapy are used for Prader-Willi

syndrome, but both conditions do not currently have a cure. Life expectancy is mostly normal, as

long as complications are managed, especially with Prader-Willi syndrome since they are at risk

for diabetes and heart disease as a result of the overeating and subsequent obesity.