ABSTRACT
BACKGROUND: FS are the most benign occasional seizures in childhood. Little is known about the long term follow up. Aim: To describe a long term follow-up of FS in Tunisian families. METHODS: Field study was conducted for 30 patients with FS. We analyzed clinical phenotype of FS and associated afebrile seizures with genetic study. RESULTS: We collected 107 individuals with febrile and / or afebrile seizures. Afebrile seizures were found in 28.3% of patients. The "FS" phenotype was found in 18 families (60%), "GEFS +" in 7 (23.33%), and idiopathic generalized epilepsy in 5 (16.66%). Sequencing analyses of SCN1A, SCN1B and GABRG2 genes revealed a novel SCN1B gene mutation in one family with FS and a known SCN1A mutation in GEFS+ family. CONCLUSION: If FS are apparently isolated and infrequent, they occur most often in a family setting. The genetic studies remain difficult mainly because of the lack of phenotype-genotype correlation.
Subject(s)
Pedigree , Seizures, Febrile/epidemiology , Seizures, Febrile/genetics , Adolescent , Adult , Aged , Amino Acid Substitution , Child , Child, Preschool , Consanguinity , Epilepsy, Generalized/epidemiology , Epilepsy, Generalized/genetics , Female , Follow-Up Studies , Haplotypes , Heterozygote , Humans , Male , Middle Aged , Mutation , NAV1.1 Voltage-Gated Sodium Channel/genetics , Phenotype , Polymorphism, Single Nucleotide , Prospective Studies , Receptors, GABA-A/genetics , Tunisia/epidemiology , Voltage-Gated Sodium Channel beta-1 Subunit/genetics , Young AdultABSTRACT
BACKGROUND: Learning disorders are increasingly a concern for Tunisians parents. These difficulties are divided into two groups: specific learning disabilities and non-specific learning disorders. AIM: Our work is part of a federated research project. Our aim is to determine the incidence, etiology and management of learning disorders in the region of Sfax. METHODS: We conducted a descriptive cross-sectional study on a population of 304 children assessed by their teachers as having academic difficulty. A multidisciplinary assessment including a neurological examination, an assessment of score of intelligence and language assessment has been performed for 209 children. RESULTS: Referring to our sample, learning disorders affect 21.3% of children in the region Sfax. The frequency of specific learning disorder is estimated at 10.3% (reading disorder 5.9%, dyscalculia 2.4%, reading disorder associated with dyscalculia 2%). Non-specific learning disorders were found in 11% of children. Etiologies in this group were dominated by mental retardation (2.1%), inappropriate education (2.3%). CONCLUSION: Our study revealed the high frequency of learning difficulties. It allows us to distinguish between specific learning disabilities and non specific learning disorders secondary to neurological or precarious socio-economic conditions. However, the profile and severity of specific learning disorders could not be studied due to the lack of standardized Arabic tests in Tunisia. In countries with a lack of professional and specialized unit care as in Tunisia, reading interventions in school should be proposed. Only children with remaining difficulties after this training will be sent to specialized professionals.
