title: Epidemiologic and clinical characteristics of 458 Tunisian patients with intellectual deficiency and a reconsidered diagnostic strategy.
abstract: Intellectual Deficiency (ID) is a common neuropsychiatric disorder whose etiopathogenesis still insufficiently understood. In the last decade, several surveys, assessing epidemiologic, clinical and etiologic parameters of ID, have been performed but none of them is realized in a Tunisian population. In this retrospective survey, we propose to study these parameters, in a Tunisian cohort of 458 patients with constitutional ID, and to assess our diagnostic strategy. Data analyses, by the SPSS program, reveal a male predominance, a high level of consanguinity, an advanced mean age of patients, a rare frequentation of specialized institutions by the severely affected patients, and a high frequency of familial forms with predominance of the recessive autosomal ones. The study of clinical parameters and investigations' results shows that 72.1% of our patients present a syndromic ID. For these patients, chromosomal anomalies are rarely described, EEG anomalies were usually non-specific in patients without clinical evidence of epilepsy, and brain anomalies are common in patients with severe ID, neurological symptoms or history of seizures. Aetiology is identified in 13.1% of them whereas it is still unknown in 100% of patients with non-specific ID. This study allows us to better characterize, epidemiologically and clinically, the first large Tunisian cohort of patients with ID and to assess our diagnostic strategy in order to propose a revised one that will improve the diagnostic lead, the care chain and the preventive resources of ID.
authors.affiliation: Charles Nicolle Hospital, Congenital and Hereditary Diseases Tunis, Tunisia. mediha_tr@yahoo.fr
authors.forename: Mediha
authors.initials: M
authors.lastname: Trabelsi
authors.forename: Imen
authors.initials: I
authors.lastname: Chelly
authors.forename: Faouzi
authors.initials: F
authors.lastname: Maazoul
authors.forename: Myriam
authors.initials: M
authors.lastname: Chaabouni
authors.forename: Ines
authors.initials: I
authors.lastname: Ouertani
authors.forename: Lilia
authors.initials: L
authors.lastname: Kraoua
authors.forename: Lamia
authors.initials: L
authors.lastname: Khemakhem
authors.forename: Ridha
authors.initials: R
authors.lastname: Mrad
authors.forename: Habiba
authors.initials: H
authors.lastname: Chaabouni
mesh_terms: D000293:Adolescent; D002648:Child; D002675:Child, Preschool; D003241:Consanguinity; D004569:Electroencephalography; D005260:Female; D006801:Humans; D008607:Intellectual Disability / Q000175:diagnosis* / Q000453:epidemiology* / Q000209:etiology; D008297:Male; D010641:Phenotype; D014416:Tunisia / Q000453:epidemiology