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Autism is part of a syndrome with genetic foundations. The presence of syndromic mutations is observed. The genetic basis of autism accounts for about 10% in total. Various types of mutations seen in a wide range of genes have been associated with autism. These syndromic conditions can lead to the emergence or prominence of additional findings alongside the known signs of autism. Muscle weaknesses (hypotonia), intellectual disabilities (ID), developmental delays, severe epileptic seizures (which may be resistant to antiepileptics), etc. In these syndromic conditions, genetic chromosomal analyses and sequencing analyses (Karyotype determination; examination of chromosomal number and morphology (cytogenetic examination, molecular cytogenetic examination; Microarray, FISH; Fluorescent In Situ Hybridization), WES; Whole Exome Sequencing or CES Clinical Exome Sequencing) should be primarily performed on the child. Chromosomal anomalies and the presence of mutations can be detected and interpreted clinically by checking international databases for mutations. In the presence of mutations, while maintaining general support, gene therapy should be applied. The main gene therapy methods include gene editing techniques; Prime Editing Therapy, Exon Skipping Therapy, or CRISPR (Clustered Regularly Interspaced Short Palindromic Repeats) should be implemented. CRISPR-Cas technology: Targeted Genome Editing Technology has been used in limited genetic diseases (Cystic Fibrosis, genetic disease with blindness; CEP290-Associated Retinal Degeneration, DMD; Duchenne Muscular Dystrophy, and SMA; Spinal Muscular Atrophy) with approval from the U.S. Food and Drug Administration for a limited number of diseases. The CRISPR-Cas technology has not yet received the necessary approvals for widespread use due to the lack of ethical consensus, both religious and legal, despite science centers and scientists having sufficient knowledge, skills, and technological infrastructures. However, it has been applied in a limited number of cases with genetic mutations in China and the USA, yielding excellent results. I believe that in the future, this technique will be allowed to be used for the treatment of diseases in certain centers under strict control and supervision. With the increasing use of artificial intelligence in medicine and its integration with genetic developments, it is expected that gene therapy and gene editing methods will be used much more widely in genetic syndromes and diseases in the next 4-5 years.

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