Angelman syndrome is a characteristic clinical condition mainly because of its distinctive behaviors and developmental course. It is typically not recognized in early infancy since the developmental problems are non-specific in this time. The age of diagnosis is frequently between two and five years when the characteristic behaviors and features become clearly evident.
What are the other names for Angelman syndrome ?
- Angelman Syndrome is also known by its abbreviated form “AS”.
- Angels Happy Puppet Syndrome (not viewed as an acceptable term anymore).
What is the pathology behind Angelman Syndrome ?
For the majority of children with Angelman Syndrome, the reason is a deletion in chromosome 15. This holds true for around three quarters of those diagnosed with Angelman Syndrome. A minority have a mutation of the chromosomal region in UBE3A. A very small minority have no deletion or mutation in the gene, but they may be missing the active UBE3A gene.
What are the symptoms of Angelman syndrome ?
The consistent diagnostic symptoms include developmental delays, functionally severe speech impairment, absent or minimal use of words; non‐verbal communication skills higher than verbal ones, movement or balance disorders, usually gait and/or unsteady movement of limbs.The behavior is different as well with frequent laughter and smiling, showing mostly happy demeanors with easily excitable personalities. They have short attention spans with hyperactivity.
The frequent diagnostic symptoms include tardy, disproportionate growth usually resulting in a small size of head and seizures with abnormal electroencephalogram pattern (EEG).
The other symptoms include squint eyes, hypopigmented skin and eyes, tongue thrusting; suck/swallowing or drooling disorders, hyperactive tendon reflexes, feeding problems during infancy, wide mouth with wide‐spaced teeth and sleep disturbances.
What is the treatment of Angelman syndrome ?
There is no cure or specific therapy for Angelman syndrome.
Medical therapy is typically necessary in order to treat seizures. Physical therapies, occupational therapies, communication therapies and behavioral therapies are very important in allowing individuals with Angelman syndrome to reach their maximum developmental potential.
What is the prognosis for patients with Angelman syndrome ?
Many people with Angelman Syndrome improve their living skills with support. Dressing skills are variable and simple clothing can be used without buttons or zippers. Most of the affected adults are able to eat with a knife or spoon and fork and learn to slowly perform simple household tasks. General health is fairly good and life‐span near average.
Particular health problems in adults include a tendency to get obese.
How to find neurologists for Angelman syndrome treatment ?
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Disclaimer: The content provided here is meant for general informational purposes only and hence SHOULD NOT be relied upon as a substitute for sound professional medical advice, care or evaluation by a qualified doctor/physician or other relevantly qualified healthcare provider.
