Clinical and neuropsychiatric status in children with Williams-Beuren Syndrome in Upper Egypt

Abstract

The aim of this study was to evaluate and explore the clinical, neuropsychiatric status and EEG pattern in a series of children with Williams-Beuren syndrome (WBS) in Assiut, Upper Egypt. We aimed to provide a comprehensive data comparable to what has been published, to enable us to make comparisons across different cultural areas. This will contribute to a better definition of the neuropsychiatric features that may be specific to WBS that allows early and better detection and management of those children.

Materials and methods: A series of 17 WBS children patients who consulted at our hospital were evaluated. The patients were assessed mainly for clinical, neurological, psychiatric and EEG status. We performed FISH for all patients.

Results: All patients had a deletion of the long arm of chromosome 7 (7q 11.23). All had elfin facies. Neurological examination revealed hypotonia in 25% of patients and rigidity (12.50%), brisk deep tendon reflexes (25%), abnormal plantar response (12.50%). Cerebellar and extrapyramidal signs were frequent: dysmetria (31.25%), dysdiadochokinesia (31.25%) and ataxia (18.75%). Epileptic seizures were present in 31.25% of patients and ADHD (37.5%). Autism was present in one patient. EEG abnormalities were present in 31.25%. Congenital cardiopathies were present in 62.50%.

Conclusion: Our data showed that WBS children had multi-systemic clinical complications and the management of those patients requires the pediatrician to understand the natural course of this condition, awareness of potential medical problems, and periodic baseline clinical, neuropsychiatric evaluations, monitoring, and rapid intervention to improve the medical care for patients who have WBS.

Keywords: ADHD; Autism; CARS; Childhood Autism Rating Scale; Children; EEG; FISH; FSIQ; Full Scale IQ; GTC; PPS; SVAS; VSD; WBS; Williams-Beuren syndrome; electroencephalogram; fluorescence in situ hybridization; generalized tonic clonic; peripheral pulmonary stenosis; supravalvular aortic stenosis; ventricular septal defect.