Ayurvedic perspective in the management of Angelman syndrome

Abstract INTRODUCTION: Angelman syndrome (AS) is a neurodevelopmental disorder characterized by developmental delay, speech impairment, cognitive disability, epilepsy, inappropriate laughter, and dysmorphic facial features. It occurs due to dysfunction in the expression of the Ubiquitin protein ligase E3A (UBE3A) gene on chromosome 15q13. Given that AS is a genetic disorder with a well-established molecular basis and limited definitive therapeutic options, Ayurveda may offer a supportive management approach. This case report describes the clinical outcomes following a comprehensive Ayurvedic intervention, including medications, Panchakarma procedures, and dietary modifications, in the management of this condition. PATIENT INFORMATION: A 6-year-old boy presented to the Kaumarabhritya Outpatient Department with delayed milestones, difficulty walking without support, speech impairment, behavioral issues with a happy disposition, frequent inappropriate laughter, poor social interaction, and seizures since infancy. These symptoms progressively worsened over a period of 5–6 years. Clinical evaluation and investigations confirmed the diagnosis of AS. As there is no direct nosological correlation for AS in Ayurveda, the condition was interpreted within the framework of Vyadhija Phakka , considered under Adibala-Pravṛtta Vyadhi (congenital disorders). The clinical presentation was further understood as a Mastulunga–Majja Kshaya-Janya Vikara , with predominant involvement of Vata Dosha , affecting Majja Dhatu and Manovaha Srotas . THERAPEUTIC INTERVENTION: The therapeutic approach was designed within a holistic Ayurvedic framework, integrating principles of Vyadhija Phakka , Apasmara , Unmada , and Vata Vyadhi , with a focus on pacifying Vata dosha , nourishing Majja Dhatu , and performing Srotoshodhana . The initial phase included Ashta Choorna (2.5 g three times before food with honey), Gandarvahastadi Kashaya (30 mL twice a day before food), and Shadpala Ghrita (3 g two times a day before food) for Agni Dīpana and Srotoshodhana , followed by Swetasankupushpi Choorna (3 g twice a day with honey) and Gorochanadi Gulika (one tab twice a day) for memory enhancement. External Rūkṣa Chikitsa was done with Udwartana (dry medicated powder massage), Kadi Kizhi (~a form of Pinda Sweda using medicated powders in fermented rice water), and Takradhara (~streaming of medicated buttermilk over the forehead) for 2 weeks. The next phase focused on Vata Samana with Abhyanga (medicated oil massage) and Kalyanaka Ghrita (3 g twice a day before food), followed by Patrapotala Pinda Sweda (~fomentation with sautéed Vatahara leaves), Mutta Kizhi (~poultices prepared with boiled egg yolks and medicated herbs), and Śirodhara (pouring of medicated oil on the head). The treatment ended with Yoga Vasti ( Mustādi Rājayāpana Vasti ). The total treatment duration was 2 months. RESULT: Following a 2-month intervention, improvements were observed across motor and behavioral domains. The Gross Motor Function Measure-66 score increased from 60% to 66%, indicating improvement in gross motor function. The Functional Independence Measure score improved from 85 to 92, suggesting enhanced functional independence. The Indian Scale for Assessment of Autism score decreased from 113 (moderate range) to 97 (mild range), reflecting a shift in severity classification. Similarly, the Autism Treatment Evaluation Checklist score reduced from 104 to 87, indicating a reduction in autism-related symptoms. CONCLUSION: This case demonstrates improvement in selected motor and behavioral parameters following a short course of Ayurvedic management in a child with AS. While the underlying genetic basis of the disorder remains unaltered, the observed changes suggest that Ayurveda may offer a complementary framework for symptomatic management and functional support in such conditions. These approaches, focusing on individualized care, may contribute to improvements in daily functioning and quality of life. However, given the limitations of a single-case design and short follow-up, these findings should be interpreted cautiously. Further well-designed studies are required to evaluate the role and reproducibility of such interventions.