How Do You Spell ANGELMAN SYNDROME?

Pronunciation: [ˈe͡ɪnd͡ʒə͡lmən sˈɪndɹə͡ʊm] (IPA)

Angelman Syndrome is a neurological genetic disorder that affects approximately 1 in 15,000 individuals. Its name is derived from the British pediatrician Harry Angelman, who initially described the syndrome's characteristics in 1965. The word "Angelman" is pronounced /ˈeɪndʒəlmən/ in IPA phonetic transcription. The first syllable, "ang," is pronounced like the word "hang" without the "h" sound. The second syllable, "el," is pronounced like the letter "L." The third syllable, "man," is pronounced like the word "man." The word's spelling reflects the pronunciation of the surname "Angelman."

ANGELMAN SYNDROME Meaning and Definition

1. Angelman Syndrome is a genetic disorder characterized by developmental delays, intellectual disability, speech and movement impairments, and unique behavioral traits. It is a neurodevelopmental disorder that affects the nervous system and occurs in approximately 1 in 15,000 individuals.

   The syndrome is primarily caused by a deletion or mutation in the UBE3A gene, which is responsible for encoding a protein called ubiquitin ligase E3A. This protein plays a crucial role in brain development and function. In most cases, Angelman Syndrome occurs as a result of the deletion of the UBE3A gene in the maternally inherited chromosome 15.

   Individuals with Angelman Syndrome typically present with delayed motor milestones, such as crawling and walking, and may experience difficulties in balance and coordination. They often display a happy demeanor, with frequent laughter, smiling, and hand-flapping movements. Other common features include a small head size, seizures, sleep disturbances, and a fascination with items that crinkle or shine.

   Communication difficulties are also prevalent in individuals with Angelman Syndrome, with minimal to no speech production. However, they often demonstrate receptive language skills and can understand verbal and nonverbal cues. The condition is also associated with a high prevalence of hyperactivity, short attention span, and a fascination with water.

   While there is currently no cure for Angelman Syndrome, treatment options focus on managing symptoms and improving quality of life. This may include speech therapy, physical therapy, occupational therapy, and behavioral interventions. Early diagnosis and intervention can greatly enhance development and maximize potential for individuals affected by this syndrome.

Common Misspellings for ANGELMAN SYNDROME

• zngelman syndrome
• sngelman syndrome
• wngelman syndrome
• qngelman syndrome
• abgelman syndrome
• amgelman syndrome
• ajgelman syndrome
• ahgelman syndrome
• anfelman syndrome
• anvelman syndrome
• anbelman syndrome
• anhelman syndrome
• anyelman syndrome
• antelman syndrome
• angwlman syndrome
• angslman syndrome
• angdlman syndrome
• angrlman syndrome
• ang4lman syndrome
• ang3lman syndrome

Etymology of ANGELMAN SYNDROME

The term "Angelman Syndrome" is named after Dr. Harry Angelman, an English pediatrician, who first described the disorder in 1965.

While the syndrome was officially recognized and named after Dr. Angelman, it is worth noting that he acknowledged the contribution made by colleagues in his initial publication. The original name given to the condition by Dr. Angelman was "puppet children" due to the characteristic puppet-like movements displayed by the affected individuals.

Over time, the condition became widely known as "Angelman Syndrome" in honor of Dr. Angelman's significant contributions to its understanding and identification.

Plural form of ANGELMAN SYNDROME is ANGELMAN SYNDROMES