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Clinicodemographic and Genetic Profile of Children with Spinal Muscular Atrophy in Kerala, India: A Single-Center
Hafsa1, Smilu Mohanlal2, P M Mubeena1
1Department of Pediatrics, Aster Malabar Institute of Medical Sciences, Kozhikode, Kerala, India.
Insights
Early intervention with disease-modifying therapies and a multidisciplinary approach significantly improve outcomes for children with spinal muscular atrophy (SMA). Timely management of complications like scoliosis and respiratory issues is crucial for enhancing quality of life.
Area of Science:
- Neurology
- Pediatrics
- Genetics
Background:
- Spinal muscular atrophy (SMA) is a common pediatric neurodegenerative disorder causing progressive motor neuron weakness.
- Limited data exists on the natural history and long-term outcomes of SMA in the Indian population.
- This study focuses on a 2-year follow-up of genetically confirmed SMA cases in India.
Purpose of the Study:
- To investigate the clinical course and systemic complications in Indian children with SMA.
- To evaluate treatment outcomes, including response to disease-modifying therapies and management of complications.
- To provide insights into the long-term follow-up of SMA patients in a specific cohort.
Main Methods:
- A prospective observational study was conducted over 2 years (April 2022-March 2024) at Aster MIMS Hospital, Calicut, Kerala.
- Included were 80 children aged 1 month to 18 years with genetically confirmed SMA.
- Data collection utilized a standardized neuromuscular clinical proforma with biannual follow-ups.
Main Results:
- The cohort comprised 80 patients (33 boys, 47 girls) with SMA types 1 (n=6), 2 (n=55), and 3 (n=19).
- Twenty-four of 46 patients on disease-modifying therapies showed functional improvement.
- Twenty-one of 25 patients with abnormal sleep studies received Bilevel Positive Airway Pressure (BIPAP) ventilation; 10 of 54 with scoliosis underwent surgery.
Conclusions:
- A multidisciplinary approach and early disease-modifying drug initiation enhance quality of life and functional scores in SMA patients.
- Early initiation of BIPAP ventilation and timely scoliosis management are critical for optimal patient outcomes.
- Findings highlight the importance of comprehensive care in managing pediatric SMA.
Background And Objectives:
Spinal muscular atrophy (SMA) is the most common neurodegenerative disorder in children, with an incidence of 1 in 6000-10000 live births. It is characterized by progressive lower motor neuron weakness. Studies on the natural history and long-term follow-up of an Indian cohort are sparse. We aim to study the clinical course, systemic complications, and treatment outcomes of children with genetically confirmed SMA during a 2-year follow-up.
Methods:
A prospective observational study was conducted at Aster MIMS Hospital Calicut, Kerala, including patients with genetically confirmed SMA aged 1 month to 18 years attending the neuromuscular clinic of the pediatric neurology department from 1 st April 2022 to 31 st March 2024. Data were collected using a standardized neuromuscular clinical proforma and were followed up biannually.
Results:
Of the 80 enrolled patients, there were 33 boys and 47 girls. Our study included three types of SMA: 6 with SMA type 1, 55 with SMA type 2, and 19 with SMA type 3. A total of 22/80 had a positive family history of SMA. Among 46 patients on disease-modifying therapies, 24 showed improvement in functional scores. Bilevel positive airway pressure (BIPAP) ventilation was initiated in 21/25 patients with abnormal sleep studies. Scoliosis surgery was performed in 10/54 children with scoliosis.
Conclusions:
A multidisciplinary approach and early initiation of disease-modifying drugs significantly improved the quality of life in SMA patients and their functional scores. Early BIPAP initiation and timely management of scoliosis were crucial.
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