المملكة: With Saudi participation…an international study paves the way for treating neurological disorders in children
An international study with the participation of researchers from King Fahad Medical City revealed the association of rare genetic changes in the “ASTN1” gene with neurodevelopmental disorders in children, which paves the way for early and accurate diagnosis of these cases.
The study included the analysis of clinical and genetic data for eighteen patients belonging to 12 families from different countries and research centers.
The team focused on understanding the effect of mutations in this gene, which is responsible for the production of the “Astrotactin 1” protein, which directs nerve cells during brain development.
Developing therapeutic pathways
Scientific results showed that these mutations are linked to a wide range of diseases, most notably delayed growth, autism spectrum disorder, hyperactivity and attention deficit disorder, epilepsy, and movement and balance disorders.
The researchers also monitored their cause in cases of epilepsy and movement and balance disorders, identifying three complex genetic patterns associated with the disease.
The team at King Fahad Medical City, affiliated with the second Riyadh Health Cluster, contributed to collecting clinical data. And interpreting brain imaging results for those affected.
This research is one of the largest studies described for disorders of this rare gene to date.
These results support the use of advanced genetic tests to improve genetic guidance for families suffering from these conditions.
The results help doctors develop treatment and rehabilitation paths that suit the needs of affected children in the future.
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