Adolescent with 22q11.2 Microdeletion Syndrome, Cognitive Delay, Autism Spectrum Disorder and Psychotic Features

Abstract

Microdeletion 22q11.2 syndrome (22q11.2DS) is a common microdeletion syndrome, also described as DiGeorge syndrome (DGS). It has a prevalence estimated to be within 1 per 2148 livebirths. Eighty-four percent of the children with 22q11DS had at least one psychiatric disorder, including autism spectrum disorder (ASD), schizophrenia, neurocognitive delay and other neuropsychiatric disorders. Sometimes is not easy to detect psychiatric diagnosis in developmental disorders, so it is important to look for psychiatric symptoms, etiological factors and clinical report about child development, including parent’s perceptions. We present a female adolescent patient with a mild cognitive delay, and underdiagnosed ASD, that had a microdeletion 22q11.2 Syndrome, identified at the first year of life. She was evaluated in psychiatric consultation only at 15 years, for psychotic symptomatology. At that time some ASD features were identified, and lately confirmed, with parental information and psychological evaluation instruments, like Autism Diagnostic Interview Revised (ADI-R). This paper aims to alert to the possibility of confluence of 22q11.2DS with ASD and psychotic symptoms, at the same time. We also want to enhance the importance of a multidisciplinary team in developmental disorders, paying attention to developmental report and parents ‘information, which may possibility early intervention and an accurate diagnosis.