Should ASHA Workers Be Trained to Identify Babies with Spinal Muscular Atrophy?

New Delhi, Aug 30 (NationPress) Training ASHA workers to recognize warning signs in infants with Spinal Muscular Atrophy (SMA) could significantly enhance the battle against this rare condition in India, according to health specialists on Saturday.

SMA is a rare genetic disorder that impairs motor abilities in affected individuals.

While cognitive functions remain intact, motor skills are severely compromised.

In an interview with IANS, Dr. Rahul UR, State Nodal Officer - Child Health and Rare Diseases, National Health Mission, Kerala, emphasized the importance of grasping the disease mechanics.

“SMA is a genetic condition that manifests in early childhood, often misinterpreted as a mere developmental delay, contrasting with adult motor challenges that may lead to wheelchair dependence,” Rahul explained.

SMA is classified into four types: 0, 1, 2, 3, and 4.

Type 0 refers to infants who do not survive the birthing process due to insufficient muscle function, resulting in mortality. Types 1 to 4 involve compromised recruitment of motor units, leading to neuromuscular disorders.

Rahul pointed out that a significant issue is that many parents lack awareness of the crucial developmental milestones their child should reach by specific ages.

Thus, raising awareness begins with comprehending typical stages of child development, which can be seamlessly integrated into current national health initiatives.

“Missing essential milestones, like achieving neck control or standing at the right age, are vital signs that necessitate further assessment,” Rahul noted.

For instance, a child with Type 1 SMA will never gain neck control without intervention. Regrettably, some families may assume their child will eventually catch up.

This misconception leads to delays in both evaluation and diagnosis. For a child with Type 1 SMA, such a delay can be life-threatening within the first 12 months,” Rahul warned.

To counter this, “community health professionals, including ASHA workers, should be trained to spot warning signs. This should be supported by initiatives for early screening and newborn testing programs to systematically identify these conditions,” the expert stated.

Moreover, the expert highlighted the absence of standard guidelines or protocols for SMA management, coupled with the lack of a national registry to track SMA patients. The deficiency in sustainable funding also hampers advancements in diagnostics and treatments for the disease.

“According to research, the estimated prevalence of SMA in India is approximately 1 in 7,500. However, we do not possess a precise registry or records of this condition. This challenge extends beyond Spinal Muscular Atrophy to most rare diseases in India,” the doctor remarked.

“Currently, the SMA landscape in India faces significant challenges—delayed diagnosis and treatment initiation due to limited awareness, inadequate access to genetic testing facilities, a shortage of Centers of Excellence with trained specialists, multidisciplinary teams for comprehensive care, and insufficient funding for treatment access,” Professor Sheffali Gulati, a neurologist at the Department of Pediatrics, AIIMS, New Delhi, told IANS.

The ongoing delay in establishing robust data systems poses a considerable threat to public health, as healthcare workers cannot effectively plan for sustainable, population-level support without it.

Gulati observed that although innovative therapies are now available with proven efficacy in preserving motor function and enhancing quality of life, access remains a significant obstacle.

“To genuinely transform the outlook for patients, India urgently requires a sustainable funding mechanism that guarantees equitable access to these transformative therapies,” she added.

To address these gaps, experts called on governments, NGOs, patient organizations, the medical community, and the industry to unite with a shared commitment.

(Rachel V Thomas can be contacted at rachel.t@ians.in)