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

Authors

Elisabeth Fernell, Linda Bulmer, Christopher Gillberg

Published in

Lakartidningen. Volume 123. Oct 20, 2026. Epub Oct 20, 2026.

Abstract

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.

PMID:
42899367
Bibliographic data and abstract were imported from PubMed on 21 Oct 2026.

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