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PubMed1978

[Mental deficiency. Definition, epidemiology, etiology (author's transl)].

In this account, the author replaces this chapter within the field of pediatrics, showing the present importance of the problem. In spite of a definition which is sometimes imprecise, and epidemiological studies which are incomplete and difficult to draw up, the importance of this subject was obvious to those who drew up the 7th economic plan (1976--1980). Their estimation mentionned a total number of about 500,000 children, i.e. 4%. The main etiologies are discussed showing the part which is due to prenatal pathology and perinatal and postnatal pathology. Each chapter shows the role of biology and biochemistry in particular in the study of metabolic disorders of the nervous system. As far as genetic advice is concerned, it is not always easy as there still subsists a majority of cases of mental deficiency where the cause remains unknown. Research has an important role to play in the future if one wihes to cure or prevent mental deficiency.

Child↗
PubMedDate not supplied

[Bioelectric impedance in the nutritional evaluation of mentally deficient quadriplegic adults].

Severely mentally retarded persons with cerebral palsy show a high rate of acute and chronic malnutrition. Without discarging other factors which might be at play, caloric intake deficiency stemming from the difficulties involved in being fed appear to play a crucial role in its etiology. In the assessment of these disorders, anthropometry is limited by the lack of adequate reference values and by the difficulty or impossibility of measuring height using the conventional method. The purpose of this study is to see how changes in body composition brought about by an increase in dietary caloric intake are perceived by both anthropometry and biolectrical impedance analysis. To do so, 13 subjects were selected from a group of 203 severely mentally retarded persons made up of 25% cerebral palsy patients and 13% quadriplegics. The 13 subjects were fed orally without tubes and all had tricipital skinfolds of less than P25. All 13 were given a 25% caloric increase over the regular diets for a period of two months. This increase was provided by means of a polymeric, normoproteic, hypercaloric preparation. Weight and brachial perimeter showed significant increases coinciding with the administration of the supplement. Theses increases were not noticeable two months after discontinuing the supplement. There were no significant changes in tricipital and subescapular skinfolds, muscular circumference of de mid-arm, resistance, reactance, or the total body an extracellular water calculated from the latter two values. From these results we deduce that biolectrical impedance analisys offers no advantages over anthropometry in monitoring the nutritional status of quadriplegics.

Adult↗
PubMed1976

Inherited congenital normofunctional testicular hyperplasia and mental deficiency.

Four 46,XY siblings with congenital bilateral megalorchidia, marcogenitosomia, and severe mental deficiency were investigated. The testicular size was significantly larger than age-matched normal males. A normal hypothalamic-pituitary gonadotropin function was demonstrated by the finding of normal levels of luteinizing and follicle-stimulating hormones in blood samples drawn at frequent intervals and by normal responses to gonadotropin-releasing hormone and testosterone administration. A normal testicular function was shown by the finding of normal (a) plasma testosterone and estradiol levels, (b) gonadal response to human chorionic gonadotropin, (c) sperm analysis, and (d) morphology and cell architecture of the testes. Adrenal function was found to be within normal limits. These results demonstrated the existence of normofunctional testicular hyperplasia. The family studies suggested that this distinct congenital disorders is inherited as an X-linked recessive trait.

Adolescent↗
PubMed2000

Growth deficiency, mental retardation and unusual facies.

An 8-year-old girl with growth deficiency, mental retardation, unusual facies and hypertrichosis is described. The case is compared with one described by Wiedemann et al. [(1989) Atlas of Clinical Syndromes, 2nd ed. London: Wolfe Publishing pp. 198-199].

Child↗
PubMed1991

[Epidemiology of mental deficiency. The study of Safor (I): prevalence and etiology].

An epidemiological study of Mental Deficiency was carried out in an area of the region of Valencia. A prevalence of children between 0-14 years old were found to have an IQ of below 70; 14,10 every 1,000 over a period from september 1987 to june 1988. This prevalence increases gradually according to age, reaching a high point at 10 and another at 14. These fluctuations are due to extreme and less serious cases. 29% of the cases can be attributed to prenatal causes. 9% are perinatal, and 49% are a postnatal origin. In 57% of the cases no cause has been found, and can be considered of unknown etiology.

Child↗
PubMed2000

Syndrome of short stature, mental deficiency, microcephaly, ectodermal dysplasia, and multiple skeletal anomalies.

We report on two brothers with mental deficiency, short stature of prenatal onset, microcephaly, alopecia/sparse hair, follicular ichthyosis, multiple skeletal anomalies, and recurrent respiratory infections. The younger brother has celiac disease, cryptorchidism, inguinal herniae, and hypohidrosis, while the older brother has hidrotic ectodermal dysplasia, juvenile autoimmune thyroiditis, hypolacrimation, photophobia, and optic atrophy. Striking resemblance exists between our patients and those previously reported by Schinzel ¿1980: Helv Paediatr Acta 35:243-251 and van Gelderen ¿1982: Am J Med Genet 13:383-387. The fact that boys are born to young and healthy nonconsanguineous parents and there are no other affected relatives suggests autosomal or X-linked recessive inheritance or parental germinal mosaicism for a dominant mutation.

Abnormalities, Multiple↗
PubMed1981

Circannual fluctuation of a stereotyped behaviour with possible self-mutilation in a mentally deficient adolescent.

A stereotyped behaviour with possible self-mutilation was measured in a mentally deficient child (age 17) with autistic features; the subject was observed 5 minutes each hour, daily from 0800 to 2000, for fourteen months. We studied variations of his behaviour (number of acts per minute of observation and per day) and especially circannual fluctuations with maximum in summer and minimum in winter. The origins of this variation are discussed, particularly from the chronobiological point of view. Eventual therapeutic issues of this kind of study are also considered.

Adolescent↗
PubMed1979

[Sex linked mental deficiency, unusual facies, macroorchidism and fragile site on chromosome X (author's transl)].

The association of mental deficiency, macroorchidism, and a fragile site on chromosome X [fra (X)(q28) is reported in a 13-year-old boy who also exhibits a peculiar facies reminescent of trisomy 8. This particular facies is considered part of the clinical syndrome associated with the fra(X)(q28). The fra(X)(q28) was not found in the mother nor in two normal sibs of the propositus. The significance of the marker is discussed in view of two hypotheses, close linkage between pathological gene(s) and the fra(X)(q28) and faulty transcription of the gene(s) beyond the tra(X)(q28).

Adolescent↗
PubMed1979

[The place of institutions for the mentally deficient].

The institutions, more and more adjusted to the age and the specific handicap of the mentally deficients, attempt to provide an harmonious education. In order to do so, they have to resolve many problems: problems of the handicapped children, who are confronted to a new and very different life-style as well as to a large number of adults who will be taking care of them; problems of the parents, who are badly informed about the institutional methods; problems of the public to whom the existence of the medicoeducational centers gives good conscience; problems of the staff, called to work in a pluridisciplinary team and whose effeciency depends on its cohesion. Such teams should also include the parents.

Adolescent↗
PubMed1982

Individualization of a syndrome with mental deficiency, macrocranium, peculiar facies, and cardiac and skeletal anomalies.

The authors report four unrelated girls presenting mild mental deficiency and a distinct malformation syndrome, mainly consisting of short stature, macrocranium, peculiar facies with prominent forehead, hypertelorism and exophthalmos, cardiac anomalies and cutis laxa with characteristic wrinkled palms and soles, typical ribs, small vertebral bodies and slender long bones. All were sporadic cases of non-consanguineous parents of advanced age at their births, suggesting a de novo autosomal dominant mutation.

Abnormalities, Multiple↗