Angelman Syndrome (Happy Puppet Syndrome

Angelman syndrome is neurodevelopmental disorder where a child gets difficulties with severe intellectual disability, seizure disorder, jerky movements sleep disturbance. They are always seems to be happy and keep laughing (Happy Puppet)

Prevalence / Incidence

• 1 in 12000-20,000 people

Signs and symptoms

• Speech impairment- may have non-verbal communication
• Presence of ataxic gait, there is always a movement disorder
• Always smiling, happy, very unique behaviour
• Vision problems (Strabismus, hypopigmented eyes)
• Feeding disorder (Sucking / swallowing difficulties, Tongue thrusting)
• Excessive drooling
• Microcephaly, disproportionate head circumference
• Abnormal sleeping pattern
• Sensitive to light, water, heat etc

Causes

• Genetics
• May be due to uniparental disomy, translocation or single gene mutation

Diagnosis Making

Treatment / Management / Medications

• Treatment of seizure disorder with anticonvulsant medicines
• Melatonin to promote sleeping habit
• Use of laxative for smooth bowel movements

Therapy

• Early Intervention
• Physiotherapy
• Occupational Therapy
• Speech Therapy
• Cognitive behaviour therapy
• Nutritional support

Prognosis

• As Angelman syndrome is not a degenerative disorder, it improves with good therapies and support. A few of them may lead partially independent life.

If you want to know more about Angelman syndrome or want to consult us, please contact us at

Mail: helpicd@gmail.com,  Whatsapp: +91-7838809241,  Voice Call: +91-11-41012124