Turner syndrome: review of clinical, neuropsychiatric, and EEG status: an experience of tertiary center

Abstract

We reviewed the clinical, neuropsychiatric, and EEG status of 53 turner syndrome (TS) females, aged 3-16 years, in Assiut university hospitals, Upper Egypt. The diagnosis and care of patients with TS in Egypt is still in the developing stage. Hence this study was undertaken to review the details of patients with TS with respect to the pattern of cognitive, psychiatric, and motor dysfunction. We aimed to provide a comprehensive data about the experience of our center comparable to previous studies, which have been published in this field. This will contribute to a better definition of the neuropsychiatric features that may be specific to TS that allows early and better detection and management of these cases. We found FSIQ and verbal IQ that seem to be at a nearly normal level and a decreased performance IQ. ADHD and autistic symptoms were found in 20.70 and 3.77 % of our cohort, respectively. The motor performance in TS was disturbed, with some neurological deficits present in 17 % (reduced muscle tone and reduced muscle power). In addition, females with TS in our study exhibit social and emotional problems, including anxiety (5.66 %) and depression (11.30 %). The EEG results revealed abnormalities in seven patients (13.20 %). One patient presenting with generalized tonic-clonic seizures showed generalized epileptiform activity, and six patients presenting with intellectual disabilities showed abnormal EEG background activity.