Biomedical subjects
Publications and source records attributed to Ilhem Turki.
Developmental dysphasia is a specific, primary and lasting oral language disorder (expressive or comprehensive) is the absence of any sensorineural damage oral organ dystunction or psychiatric and psychologic disorders. Pathogensis is still unknown. Diagnosis is based on exprssive and comprehensive language investigation. Therapy should be early and multidisciplinary.
BACKGROUND: Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is a clinically homogenous disorder reported in Quebec caused by mutations in the SACS gene (chromosome 13q12). Recently, we identified a Tunisian kindred demonstrating linkage to the ARSACS locus. OBJECTIVE: To report clinical, neurophysiological, and nerve biopsy findings in patients with autosomal recessive cerebellar ataxia related to the SACS gene in Tunisia. PATIENTS AND METHODS: Genetic linkage analysis of patients with early-onset autosomal recessive cerebellar ataxia allowed the identification of 4 families from which 18 patients demonstrated linkage to the ARSACS locus. The patients were evaluated according to the International Cooperative Ataxia Rating Scale. Peripheral nerve conduction, sensory evoked potentials, and nerve biopsy were performed in most patients. RESULTS: The mean age at onset was 4.5 years. The clinical phenotype was stereotyped and associated with a progressive cerebellar syndrome, a pyramidal syndrome with brisk knee reflexes, and Babinski sign and absent ankle reflexes. The course of the disease varied among patients. Sensory evoked potentials showed severe posterior column involvement. Peripheral nerve investigations demonstrated axonal and demyelinating neuropathy. Four mutations, 2 missense and 2 nonsense, were found. CONCLUSION: In Tunisia, autosomal recessive cerebellar ataxia related to the SACS gene demonstrated a homogenous phenotype and heterogeneous allelic mutations.
The sports activities must occupy a paramount place in the schooling of the handicapped pupils. Indeed in addition to the development of the physical capacities, the sports activity has a positive impact on the development of the capacities of the communication and thus the integration of the pupil handicapped in his educational, family and social circle and on progress of psychomotor acquisitions. The national plan of education and the law N94-10 of August 3, 1994 relating to the sports activity in educational and university circle took part in the development and the promotion of the sports activities in the educational structures. This measurement, applied in the centers of specialized education, did not deny concerned the handicapped pupils provided education for in the colleges and normal colleges. What are the causes? Does there exist a remedy? How to introduce the sport for handicapped into the normal establishments?