Pediatric Definition - Angelman Syndrome
Angelman Syndrome
The symptom and signs of angelman syndrome may include intellectual disability, seizures, poor language, tongue thrusting, abnormal gait, abnormal posture, motor skill delayed and prognathism as well as paroxysmal laughter.
There will be deleted 15q11 gene and the present of protein ligase gene UBE3A.
The differential diagnosis of Angelman syndrome are Prader Willi Syndrome, Rett Syndrome, cerebral palsy and autism spectrum.
Patient may require physical therapy, speech therapy and occupational therapy as well as seizures treatment.
The symptom and signs of angelman syndrome may include intellectual disability, seizures, poor language, tongue thrusting, abnormal gait, abnormal posture, motor skill delayed and prognathism as well as paroxysmal laughter.
There will be deleted 15q11 gene and the present of protein ligase gene UBE3A.
The differential diagnosis of Angelman syndrome are Prader Willi Syndrome, Rett Syndrome, cerebral palsy and autism spectrum.
Patient may require physical therapy, speech therapy and occupational therapy as well as seizures treatment.
