Angelman Syndrome: Clinical Aspects

Special Article - Epilepsy and Seizure Disorders

Austin J Clin Neurol 2016; 3(3): 1096.

Angelman Syndrome: Clinical Aspects

Campos JG¹*, Moya C¹, Guevara-González J² and Rendón ID²

¹Department of Pediatrics, Felipe Guevara Rojas Hospital, Venezuela

²Department of Pediatrics, Miguel Pérez Carreo Hospital, Venezuela

*Corresponding author: José Guevara-Campos, Department of Pediatrics, Felipe Guevara Rojas Hospital, El Tigre, Anzoátegui 6050, Venezuela

Received: October 31, 2016; Accepted: December 19, 2016; Published: December 22, 2016


Angelman syndrome is a neurodevelopmental disorder that is characterized by lack of speech, cognitive impairments, unusually happy demeanor, easily provoked laughter, short attention span, motor deficits and seizure, ataxia, and an affinity for water, among other symptoms.

Microcephaly and subtle dysmorphic features are additional features seen most affected individuals.

Angelman syndrome is due to deficient expression of ubiquitin protein ligase E3A (UBE3A) gene, which displays paternal imprinting.

There are four molecular classes of Angelman syndrome, and some genotype-phenotype correlations have emerged. The most common mechanisms that render the maternally inherited UBE3A nonfunctional are deletion of the maternal chromosomal region 15q11-q13. Other mechanisms paternal uniparental disomy, imprinting defects, and UBE3A gene mutations.

Further analysis of UBE3A gene would further confirm 90% of cases. There was still 10% of clinically diagnosed Angelman syndrome that would be rendered “test negative”. With the advancement of medical genomic technology like array comparative genomic hybridization (array CGH), patients of these “test negative” Angelman-like syndrome actually had alternative genetics diagnoses.

We review the Angelman Syndrome making greater emphasis in clinical aspects that allow early genetics orientation to achieve genetics counseling and rehabilitation therapies.


Harry Angelman, an English pediatrician, first described this condition in 1965 when he reported three children that he referred to as “Puppet Children” because of their unusual arm position and jerky movements [1]. At this time, his paper was not immediately recognized as important. It wasn’t until 1982, when Charles Williams and Jaime Frías of the department of Pediatrics, University of Florida College of Medicine, and Gainesville submitted a paper to the American Journal of Medical Genetics reporting studies of six patients and comparing their data to those from previous reports. They proposed the name of this disorder be changed to Angelman Syndrome [2].

In the nearly fifty years since that original report, have greatly increased the number of cases reported in various medical journal in different countries.


Angelman syndrome affects about 1 in 12,000 to 20,000 peoples [3].

Clinical Review

Angelman syndrome is a neurodevelopmental disorder resulting from deficient expression or function of the maternally inherited allele of UBE3A gene on chromosome 15, which plays an important role in the cellular ubiquitin-proteasome pathway and synaptic development [4]. See Table 1 for consistent, frequent, and occasional/ associated features of Angelman syndrome.

Citation: Campos JG, Moya C, Guevara-González J and Rendón ID. Angelman Syndrome: Clinical Aspects. Austin J Clin Neurol 2016; 3(3): 1096. ISSN:2381-9154