[Autism, selective mutism and mild intellectual disability explained by 17q12 microdeletion syndrome]

The patient had presented symptoms during preschool years with motor coordination difficulties, deviant reactions to sensory stimuli and separation anxiety. A language stagnation had occurred at the age of 1.5 to 2 years. At school start, she became completely mute during school hours but spoke at home. At assessment at the Child Neuropsychiatric Clinic at the age of 10, autism, selective mutism and ADHD/ADD were diagnosed. Her intellectual level corresponded to borderline intellectual functioning, and a similar test result was evident also at the age of 14 years. When transition to upper secondary school was planned, the cognitive assessment showed a mild intellectual disability. Then, medical investigations, including genetic SNP array, was carried out. This analysis showed a 17q12 microdeletion syndrome. Then, specific medical investigations were carried out due to the various medical conditions that need to be checked and followed up in patients with 17q12 microdeletion syndrome.