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Abstract
Myhre syndrome is a rare genetic disorder caused by mutations in the SMAD4 gene, characterized by multisystemic involvement, including unique neurodevelopmental challenges. This review explores the interplay between SMAD4/TGF-beta signaling pathways and neurodevelopmental outcomes, emphasizing their implications for cognition, behavior, and brain structure. Key findings from neuroimaging studies highlight structural brain abnormalities that may underpin the cognitive and behavioral characteristics observed in affected individuals. We examine the lifespan perspective on neurodevelopment, from prenatal brain development to long-term cognitive outcomes, and discuss current therapeutic approaches, including early interventions and the potential for targeted molecular therapies. Challenges in diagnosing and monitoring neurodevelopmental symptoms in rare conditions like Myhre syndrome are highlighted, emphasizing the need for standardized assessments and regular surveillance. Additionally, this review underscores the profound psychosocial and clinical implications for patients and families, calling for integrated multidisciplinary care.
References
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