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AI InsightThis case report presents a case of Cri du Chat syndrome and ASD in order to shed light on this relationship.
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Özet
Background: Cri du chat syndrome is characterized by significant impairment in expressive language skills, and impairment of the recipient language. This syndrome is caused by a deletion in the short arm of chromosome 5. Behavioral features associated with syndrome include hyperactivity, self-injurious, aggressive, and stereotyped behaviors. Autism Spectrum Disorders (ASD) is a serious neuropsychiatric disorder characterized by impairments in social interaction and communication, restricted and stereotyped behavioral patterns. Case Report: Two year and four month old male case presented with complaints of unsteady walking, short time eye contact, speech delay, repetitive behaviors like wing flap, excessive interest in rotating objects. In addition to these, we recognized hypertelorism, broad nasal root, micrognathia, and microcephaly in the physical examination. His walking was ataxic. In psychiatric evaluation, we found that his social communication and interaction were limited. We started follow-up and treatment with ASD diagnosis. In the chromosome analysis examination; 46, XY, del (5) (p15) and Cri du Chat syndrome was diagnosed. Conclusion: The relationship between autism spectrum disorders and genetic diseases is still one of the mysteries. This case report presents a case of Cri du Chat syndrome and ASD in order to shed light on this relationship.