Exploring Integrative Ayurveda in the Supportive Management of a Child with Angelman Syndrome - A Case Study

Abstract

Angelman Syndrome (AS) is a rare neurogenetic disorder caused by the pathological lack of expression of the UBE3A gene on the maternal chromosome, combined with the physiological genomic imprinting or silencing of the paternal chromosome in neurons. It clinically presents with Intellectual disability, hypotonia, inappropriate laughter, poor speech etc,. The estimated prevalence is 1 in 16,000 live births. Though it presents significant challenges to affected children and their families, early intervention and proper care can improve the quality of life. A case of 5 year old female child with k/c/o Angelman Syndrome visited OPD, Department of Kaumarabhritya, Shri Dharmasthala Manjunatheshwara Institute of Ayurveda and Hospital, Bengaluru. She was presented with slurred speech with minimal words (Vak Vikara), lack of social communication, hyperactivity and inattentiveness (Chanchala Chitta), reduced concentration (Anavasthita Chittatva), unsteady gait and hypotonia, sleep disturbance. Due to involvement of Genetic susceptibility status and Predominant Vata Dosha symptoms, the condition is diagnosed as Beejadushtigata Vata Nanatmaja Vikara and appropriate Shamanaoushadi and Panchakarma therapies. Significant improvements were seen after the treatment.