[Final result of a clinical, genetic and cytogenetic investigation of 182 mentally retarded patients of a medico-educative institution].
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Biomedical subjects
Publications and source records attributed to W Bettschart.
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A study was carried out in 11 children, ranging in age from 7 to 12 years, to determine the clinical effect of tamitinol, in addition to psychotherapy, in alleviating disturbances of learning and behaviour. Tamitinol was administered as one 100 mg tablet per 10 kg body weight daily for 8 weeks. Assessments were made of the patients' mental condition using a 7-point rating scale, before and during treatment. Global response to treatment and tolerance were evaluated at the end of the trial by the clinician and the patients (or parents). Significant improvement was noted in 7 of the 10 children who completed the study. Six of the 13 psychiatric symptoms evaluated by the clinician were significantly improved (p less than 0.01). The drug was well tolerated by all patients.
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In his work in the field of mental retardation, the physician is exposed to his vivid emotive reactions. He risks either to withdraw in a scientific relation or to identify himself with either family's members. The physician must learn to join with a pluridisciplinary team, to build up his emotional impulses, to answer to the needs of the mental handicapped and his family and to estimate the evolutive potential rather than the deficits. He must be conscious that the handicapped and his family are called, in an imperative manner, to resolve many tasks: they must not only confront themselves with many specialists (doctors, teachers, educators, logopedists, physiotherapists) and many Services, but also overcome the shock of the diagnosis and build, on the existential plan, a new life.
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A clinical and cytogenetic investigation carried out in a special institution for mentally retarded patients revealed 82 cases of oligophrenia, amongst whom were found 56 normal karyotypes (68.3%). Out of 25 karyotypes with chromosome anomalies or variants there were 18 cases of trisomy 21 and 7 others: one case of mosaicism with balanced translocation, 46,XX/46,XX,6p+,17q-; one case of partial trisomy, 46,XX,11q+; one case of pericentric inversion, 46,XY,inv(1) (p13,q21); one case with 8% chromosome breaks; three cases of marker chromosomes, of which one was of karyotype 46,XX,1qh+, and two (oligophrenic sisters) 46,XX,21p+. Moreover, there was an interesting case of testicular feminisation in a 9-year-old girl with karyotype 46,XY. The authors' results corroborate those obtained in several important previous studies based on much larger numbers of patients. Amongst the 56 cases where the karyotype was shown to be normal, there were 15 for whom a probably exogenic cause of the oligophrenia could be established, occurring mainly during the perinatal period. The authors were also able to confirm that the genetic factor plays an important role in the incidence of mental retardation, since in 22 examined patients, i.e. 26.8% of all cases, the condition was of familial type. Some interesting observations of idiopathic oligophrenia are reported, as well as several cases with well-known syndromes (Crouzon's and Cornelia de Lange's syndromes, hypothyroidism). Two cases of incest between father and daughter, which had produced children with serious oligophrenia associated, in one case, with deaf-mutism, microphthalmia, microcephaly and sclerocornea, are also discussed. The data show that mental retardation can frequently have a genetic cause, either of mendelian, chromosomal or multifactorial origin.