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Case Report

Angelman Syndrome

Journal of Ayurveda and Integrated Medical Sciences

2025 Volume 10 Number 5 MAY
Publisherwww.maharshicharaka.in

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

Meghana SK1*, Girish Kumar SV2, Meghana V3
DOI:10.21760/jaims.10.5.44

1* Meghana SK, Final Year Post Graduate Scholar, Department of Kaumarabhritya, Shri Dharmasthala Manjunatheshwara Institute of Ayurveda and Hospital, Bengaluru, Karnataka, India.

2 Girish Kumar SV, Associate Professor, Department of Kaumarabhritya, Shri Dharmasthala Manjunatheshwara Institute of Ayurveda and Hospital, Bengaluru, Karnataka, India.

3 Meghana V, Final Year Post Graduate Scholar, Department of Kaumarabhritya, Shri Dharmasthala Manjunatheshwara Institute of Ayurveda and Hospital, Bengaluru, Karnataka, India.

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.

Keywords: Angelman syndrome, Beejabhaga Dushti, Beejabhagavayava Dushti, Panchakarma therapies, Vata Nanatmaja Vikara

Corresponding Author How to Cite this Article To Browse
Meghana SK, Final Year Post Graduate Scholar, Department of Kaumarabhritya, Shri Dharmasthala Manjunatheshwara Institute of Ayurveda and Hospital, Bengaluru, Karnataka, India.
Email: 		Meghana SK, Girish Kumar SV, Meghana V, Exploring Integrative Ayurveda in the Supportive Management of a Child with Angelman Syndrome - A Case Study. J Ayu Int Med Sci. 2025;10(5):281-287.
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Manuscript Received Review Round 1 Review Round 2 Review Round 3 Accepted
2025-04-09 2025-04-24 2025-05-06 2025-05-14 2025-05-24
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© 2025 by Meghana SK, Girish Kumar SV, Meghana V and Published by Maharshi Charaka Ayurveda Organization. This is an Open Access article licensed under a Creative Commons Attribution 4.0 International License https://creativecommons.org/licenses/by/4.0/ unported [CC BY 4.0].

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Meghana SK et al. Management of a Child with Angelman Syndrome

Introduction

Angelman Syndrome is a neurodevelopmental disorder caused by maternal micro-deletion of chromosome 15q11-13 or paternal uniparental disomy, leading to mutation or dysfunction of UBE3A gene. This gene plays a critical role in cellular protein management and nervous system development. Hence the prominent features involving learning and memory impairement. In further it is clinically characterized by Severe intellectual disability, hypotonia, fair hair and skin, midface hypoplasia, ataxia, tremulous movements, large mouth, frequent drooling, inappropriate laughter, feeding difficulties, gastroesophageal reflux, poor or absence of speech, sleep disturbances. The estimated prevalence is 1:16,000 live births.[1] While there is no definitive cure for Angelman syndrome, but physiotherapy, behavioural therapy, occupational, speech therapy and anti-epileptic medications are recommended for symptomatic management. In Ayurveda, considering its genetic susceptibility, Angelman syndrome can be correlated with Beeja Dushtigata Vikara. More specifically, it aligns with Beeja Dushtigata Vata Prakopa Janya Vikara, due to the predominance of Vata Dosha, along with the involvement of Pitta and Kapha Dosha. The Ayurveda manifestations include Vak Vikruti (speech disorder), Mamsa Asthirata (hypotonia, writing issues), Gati Vaishamya (Unsteady gait), Chanchala Chitta (inattentiveness and hyperactivity), Nidra Vikruti (irregular sleep pattern), Medha Vikara (Intellectual disability). Ultimately it can be considered as Beejadushtigata Vatananatmaja Vikara.[2]

Though the Beejadushti is considered as Asadhya, symptomatic management is possible through Panchakarma therapies and Shamanaoushadi. Emphasis is placed on Vata Shamana Chikitsa due to the predominance of Vata, and due to the involvement of Beejadushti, Swarna preparations may be beneficial.

Case Report

Pradhana Vedana

A 5 year old female child was brought to our OPD by her parents. The informants c/o slurred speech with minimal words, non-verbal communication, hypotonia, unsteady gait, writing issues,

feeding difficulty, frequent inappropriate laughter, irregular sleeping pattern, unable to maintain peer relationship, lack of reciprocation, hyperactivity, inattentiveness (in commuinty and home) and reduced concentration in studies since 2 years.

H/o Seizures at 6 month of life.

Vedana Vruttanta

The first preterm child (born at 36 weeks) to non-consanguineous parents through IVF was delivered through LSCS, cried immediately after birth and weighing 2 kg. Child was said to be normal and attained milestones as per the chronological age, till the age of 6 months of age. After which she developed a high grade fever accompanied by seizures.

The child was on medication from 6 months to 11 months of age, during which the parents observed a lack of neck control alon with difficulties in both bidextrous and unidextrous grasp. After 11 months, the child gradually achieved better neck stability and improved dextrous grasp. In later, although she developed the ability for pincer grasp, child predominantly continued using a dextrous grasp.

As the child grew older, particularly from around 3 years of age, her parents started noticing behavioural issues, including inattention, poor peer relation, slurred speech and unsteady gait. For these concerns, the parents consulted to Higher centre, where genetic analysis was advised along with therapies.

The child was enrolled in Occupational therapy, behavioural therapy and speech therapy. Based on the genetic analysis report, condition was diagnosed as Angelman syndrome. However, as the parents did not notice significant improvements, they sought further evaluation and management at SDM hospital, Department of Kaumarabhritya, Bengaluru.

Clinical Findings

Developmental

  • Slurred speech with minimal words usage and no clarity in speech
  • Presence with pincer grasp but grabs with whole hand to scribble

Muscular

  • Hypotonia
  • Unsteady gait (ataxic?), needs help with stairs

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Meghana SK et al. Management of a Child with Angelman Syndrome

Behavioural issues

  • Hyperactivity and Inattentiveness - pays attention for 2 mins, impulsive with behaviour in community and home
  • Short attention span
  • Stubborn - when she gets avoided for being overly persistent
  • Inappropriate frequent laughter
  • Sleep disturbances - disrupted sleep pattern causes irritability (on intake of sweet – drowsy)

Communication

  • Lack of peer relationship, lack of reciprocation, can follow two step commands, requires multiple repetition for sentence commands.

Clinical Diagnosis

K/c/o Angelman syndrome

Chromosome Analysis by FISH method (03/04/21) : Microdeletion of the region 15q11-13 not seen in any of the cells studied.

Diagnostic Assessment

Table 1: Assessment done by CGI-S-AS (Clinical Global Impression Severity Scale)[3]

Before treatment

DomainCGI-S-AS Score
BehaviorMarkedly impairedSeverity 5
Fine motorMildly impairedSeverity 3
Gross motorMildly impairedSeverity 3
Expressive CommunicationMildly impairedSeverity 3
Receptive CommunicationMildly impairedSeverity 3
SleepBorderline impairedSeverity 2

Therapeutic Interventions:

Table 2 : Panchakarma Procedures adopted during the 1st sitting of IPD admission (18/11/2023 to 27/11/2023)

1st Sitting Treatment
18/11/2023 &
19/11/2023		20/11/2023 to
22/11/2023		23/11/2023 &
24/11/2023		25/11/2023 to
27/11/2023
UtsadanaSarvanga AbhyangaSarvanga AbhyangaSarvanga Abhyanga
ParishekaParishekaChurna Pinda SwedaParisheka
Chitrakadi Vati 1/2-0-1/2 B/FShirodhara, Matrabasti, M G Upanaha, Asyapratisarana

Treatment

  • Utsadana with Kolakulathadi Choorna and Triphala Choorna mixed with Asanabilwadi Taila
  • Parisheka with Dashamoola Kwatha
  • Shirodhara with Dashamoola Ksheerapaka
  • Sarvanga Abhyanga with Asanabilwadi Taila and Ashwagandha Bala Lakshadi Taila
  • Masha Godhumadi Upanaha for B/L Lower limbs
  • Matra Basti with Saraswatha ghrita and Ashwagandha ghrita - 15ml each
  • Asyapratisarana with Suvacha Churna, Saraswatha Ghrita, honey

Discharge advice:

  • Kumarakalyana Rasa 1/2-0-1/2 with Saraswatha Ghrita5ml-0-2.5ml B/F
  • Saraswatharishta + Balarishta - 5ml each with 10ml water (1-0-1 A/F)
  • Continue Asyapratisarana (Suvacha Churna, Saraswatha Ghrita, honey)

For 1 month

Table 3 : Panchakarma Procedures adopted during the 2nd sitting of IPD admission (22/12/2023 to 31/12/2023)

2nd Sitting Treatment
22/12/2023 &
23/12/2023		24/12/2023 to
31/12/2023
UtsadanaSarvanga Abhyanga
ParishekaShashtika Shali Pinda Sweda
Chitrakadi Vati 1/2-0-1/2 B/FShirodhara, Katipichu, M G Upanaha, Matrabasti, Asyapratisarana

Treatment

  • Utsadana with Kolakulathadi Choorna and Triphala Choorna mixed with Asanabilwadi Taila
  • Parisheka with Dashamoola Kwatha
  • Shirodhara with Brahmi Taila
  • Sarvanga Abhyanga with Asanabilwadi Taila and Ashwagandha Bala Lakshadi Taila
  • Masha Godhumadi Upanaha for B/L Lower limbs
  • Katipichu with Ashwagandha Bala Lakshadi Taila
  • Matra Basti with Saraswatha ghrita and Ashwagandha Ghrita - 15ml each
  • Asyapratisarana with Suvacha Churna, Saraswatha Ghrita, honey

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  • Physiotherapy

Discharge advice:

  • Kumarakalyana Rasa 1/2-0-1/2 with Saraswatha Ghrita5ml-0-2.5ml B/F
  • Saraswatharishta + Balarishta - 5ml each with 10ml water (1-0-1 A/F)
  • Continue Asyapratisarana (Suvacha Churna, Saraswatha Ghrita, honey)
  • Continue Abhyanga with ABL Taila and Asanabilwadi Taila
  • Continue Physiotherapy

For 1 month

Table 4 : Panchakarma Procedures adopted during the 3rd sitting of IPD admission (10/02/2024 to 19/02/2024)

3rd Sitting Treatment
10/02/2024 &
11/02/2024		12/02/2024 to
19/02/2024
UtsadanaSarvanga Abhyanga
ParishekaShashtika Shali Pinda Sweda
Sadhyovirechana with Trivrut Leha (30g) f/b Draksha Rasa (100ml)Shirodhara, Merubasti, Matrabasti, M G Upanaha, Asyapratisarana

Treatment

  • Utsadana with Kolakulathadi Choorna and Triphala Choorna mixed with Asanabilwadi Taila

  • Parisheka with Dashamoola Kwatha
  • Shirodhara with Brahmi Taila
  • Sarvanga Abhyanga with Asanabilwadi Taila and Ashwagandha Bala Lakshadi Taila
  • Masha Godhumadi Upanaha for B/L Lower limbs
  • Merubasti with Ashwagandha Bala Lakshadi Taila
  • Matra Basti with Saraswatha Ghrita and Ashwagandha Ghrita - 20ml each
  • Asyapratisarana with Suvacha Churna, Saraswatha Ghrita, honey
  • Physiotherapy

Discharge advice:

  • Kumarakalyana Rasa 1/2-0-1/2 With Saraswatha Ghrita5ml-0-2.5ml B/F
  • Mashabaladi Kashaya + Ashtavarga Kashaya – 5ml Each With 10ml Water (1-0-1 A/F)
  • Continue Asyapratisarana (Suvacha Churna, Saraswatha Ghrita, Honey)
  • Continue Abhyanga with ABL Taila and Asanabilwadi Taila
  • Continue Physiotherapy

For 1 month


Follow-Up and Outcomes:

Table 5 : Improvements observed after each sitting, are as follows:

At the end of 1st sitting treatmentAt the end of 2nd sitting treatmentAt the end of 3rd sitting treatment
  • Speech improving (able to initiate words)
  • Socialization improving (plays with kids)
  • Communication and peer relationship improved
  • Writing skills improving (attained pincer grasp)
  • Academic performance improved
  • Hyperactivity reduced (sits in one place)
  • Attention span improved
  • Speaks 4-5 words, forms sentences
  • Reciprocates to the questions
  • Walking improved (Steady walk, doesn’t need support even in stairs)
  • Child is performing in a group dance event

Table 6 : Assessment done by CGI-I-AS (Clinical Global Impression Improvement Scale)[3] After treatment

DomainCGI-I-AS Score
BehaviorConcentration improved, child started to socialize, hyperactivity reduced, activities improved2 = much improved
Fine motorWriting issues improved1 = very much improved
Gross motorstability improved, can walk individually in stairs1 = very much improved
Expressive CommunicationUnderstands the emotions, comes home and expresses the daily activity of school1 = very much improved
Receptive CommunicationSentence formation improved, reads well1 = very much improved
SleepDoesn’t sleep in the afternoon, but still has sleep impairement-feels drowsy after having sweet2 = much improved

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jaims_4319_01.JPG
Figure 1: Effect of overall treatment accessed by CGI-Scale

Table 7: To assess of the Quality of life by Barthel Daily Activity Index (after 3 sittings)

ParametersBefore Treatment ScoreAfter 1st SittingAfter 2nd SittingAfter 3rd Sitting
Total Score20/10025/10040/10060/100

jaims_4319_02.JPG
Figure 2 : Assessment of the Quality of life by Barthel Daily Activity Index (after 3 sittings)

Discussion

Angelmen Syndrome can’t be exactly correlated with any conditions in Ayurveda, but based upon the symptoms, indicates predominance of Vata along with Beejadushti. Hence present clinical condition case can be correlated with Beejadushtigata Vata Nanatmaja Vikara.

The microdeletion of chromosome and defect in UBE3A gene indicates Beejabhaga Dushti and Beejabhagavayava Dushti which is responsible for cellular protein management and nervous system development.

As per mother history, she had repeated abortions which can be taken as Garbhashaya Dushti and at the same time during the Garbha Avastha, factors like Vatakara Ahara Vihara, Garbhini Aparipathya Palana or exposure to Garbhopaghatakara Bhavas can also adversely influence the psychological and physical status of the child, which is evident in the present clinical study.

The Prakupita Vata (specifically Prana and Udana) in the Garbha Avastha, which further vitiates Sadhaka pitta, gets Sthanasamsraya in Shiromarma, resulting in Vak Vikruti, irregular sleeping pattern, inappropriate laughter, hypotonia, hyperactivity, inattentiveness and reduced concentration.


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This also involves disturbances in the Manas, Indriya and Indriyartha Sannikarsha leading to impaired Jnanotpatti ultimately leading to Prajnaparadha, this manifests as poor peer relationship, lack of reciprocation. Hence, the condition reflects the predominant Vata impairement, in association with Prakupita Pitta, which requires Vata Shamana Chikitsa.

Kumarakalyana Rasa[4] is a Khalviya Rasayana which contains Swarna Bhasma and primarily prescribed in paediatric practice. It Tridosha Shamaka and the Saptadhatu Poshaka action of Kumarakalyana Rasa provides physical and mental strength. Swarna Bhasma[5,6] has immunodulatory, nootropic action and it is a nervine tonic. It improves overall natural function in the body, improves muscle strength especially acts on nerves, brain, lungs and mind.

Some of the Panchakarma therapies adopted during IPD admission are Abhyanga which helps in pacifying Vata and provides nourishment to the body. Abhyanga with Asanabilwadi Taila[7] and Ashwagandha Bala Lakshadi Taila,[8] both of which are Nadi Balya, Shirohitam and Vata Shamaka, helps improve muscle tone and reduces contractions, ultimately enhancing motility and strength. Shirodhara has been performed using Dashamoola Ksheerapaka,[9] where Dashamoola, known for its Vata Shamaka properties, combined with Ksheera, addresses both Prakupita Vata and Pitta, thus helping to alleviate hyperactivity and sleep disturbances. Additionally, Brahmi Taila known for its Medhya and antihyperactive effects, has also been used. Matra Basti with Saraswatha Ghrita[10] is known to enhance Vak, Medha, Smrithi and Agni, which is beneficial in neurocognitive and developmental disorders and Ashwagandha Ghrita[11] is indicated in Vatika Vyadhi, and known for its Buddhi and Medhya enhancing property, plays a vital role in managing hyperactivity, inattentiveness, unsteady gait all of which are linked to brain function.

Conclusion

Angelman syndrome is an incurable disease, due to the presence of Beejadushti. There is no exact correlation in Ayurveda but based on the symptoms, it can be compared with Vata Nanatmaja Vikara, and can be managed symptomatically.

By certain Panchakarma procedures, Vata Shamana, Medhya and Rasayana line of Chikitsa and here Swarna preparations plays an important role by there Nootropic effect, Pushti Prakashi and Saukhya in nature.[5,6] Very limited data is available regarding CMT disease, further exploration is needed.

Acknowledgement: The author extends heartfelt thanks to the child and their family for their cooperation and active involvement in the treatment and documentation process.

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