DOI: 10.66497/jocde.1938793 ISSN: 1302-5945

Developmental Assessment and Support of Infants with Spinal Muscular Atrophy (SMA): A Literature Review

Ayşıl Seda Togur, Aysel Köksal Akyol
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Development is fundamentally a multidimensional and dynamic process characterized by continuous reciprocal interactions. Within this framework, a risk or delay manifesting in one specific developmental domain is inherently expected to exert a collateral influence on other areas. Consequently, the necessity for systematic assessment and longitudinal monitoring arises even for infants following a typical developmental trajectory. Such early evaluations are of paramount importance for the timely identification of potential risks, ensuring that interventions can be implemented before developmental gaps widen. This significance is further intensified in the presence of chronic illnesses, such as Spinal Muscular Atrophy (SMA), which fundamentally place a child’s overall development at risk. SMA is an autosomal recessive, hereditary, and neurodegenerative genetic disorder characterized by the progressive loss of motor neurons in the spinal cord, resulting in debilitating muscle weakness and atrophy. While literature distinguishes five distinct types based on clinical severity, the emergence of innovative pharmacological treatments is significantly improving the life expectancy of these patients. Historically, research regarding SMA has predominantly concentrated on prognosis, epidemiology, and motor skill improvements. However, the extended lifespan of infants has highlighted an urgent need for supporting their holistic development. Despite this, empirical research addressing developmental domains beyond motor functions remains remarkably limited. Therefore, this review aims to present current research concerning the cognitive, linguistic, socio-emotional, and motor development of infants with SMA, seeking to enhance professional awareness and provide a framework for future multifaceted studies.

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