Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0025362 (mental retardation)
 15,878 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

We report on 4 individuals with the fragile X [fra(X)] syndrome and the Robin sequence (or elements of that sequence). To our knowledge, this association has been described in only one other boy. However, males with the fra(X) syndrome have been reported to have an increased incidence of cleft palate. We recommend that children with a cleft palate or the Robin sequence be assessed for developmental delays and a family history of mental retardation. The fra(X) syndrome may be one of the genetic causes of the Robin sequence and, when indicated, children with the sequence should be tested for fra(X).
Am J Med Genet 1991 Dec 01
PMID:Association of the Robin sequence with the fragile X syndrome. 178 78

We present a 15-year-old girl with mental retardation, short stature, coarse face, unusually thick, loose skin of the hands and feet, deep plantar and palmar creases, and nasal papillomata. Her history and physical findings are compared to those of 2 children initially reported by Costello and to 1 child recently reported by Der Kaloustian et al.
Am J Med Genet 1991 Dec 01
PMID:Delineation of the Costello syndrome. 821 2

The behaviour profiles of 176 mentally retarded individuals from two reception centres and nine group homes were assessed. The correlations between behaviour and age, sex, degree of mental retardation, etiology of mental retardation and medical diagnosis were assessed using the Revised Child Behaviour Profile. The severity of behaviour disturbance did not vary with age or medical diagnosis. The moderately retarded subjects presented with more severe behaviour problems, such as aggression, than the severely mentally retarded subjects. The variable most predictive of behavioural problems was etiology of the disorder. Individuals with Down's syndrome had significantly fewer behaviour disturbances and those with autism and pervasive developmental disorder had significantly more behaviour disturbances than other subjects. A psychiatric disorder was found in 10.2% of the sample. The implications of these findings are discussed with respect to public policy.
Can J Psychiatry 1991 Dec
PMID:Behaviour problems of the mentally retarded. 179 May 15

Dubowitz syndrome is a rare hereditary disorder whose main features are intra-uterine and post-natal growth retardation, characteristic facies, microcephaly, mental retardation and poor feeding. Because of the eczema which was present in half of the cases after 4 years of age, it cannot be mistaken for the more frequent fetal alcohol syndrome. We report 5 cases, among whom two sibs, confirming the recessive autosomal mode of inheritance and the necessity for genetic counseling.
Arch Fr Pediatr 1991 Dec
PMID:[Dubowitz syndrome. A diagnosis not to be missed]. 179 48

The concurrence of gelastic (laughing) seizures, hypothalamic hamartoma and precocious puberty constitutes a well defined epileptic syndrome in children; moreover mental retardation, neuropsychological deterioration and behavioral disorders have been often observed in these patients. In two cases we studied by means of MRI the appearance and the site of the hamartoma (in the posterior part of the hypothalamus with extension toward the third ventricle). The EEG study was performed by means of repeated recordings, of Computed EEG Topography (CET) and of Ambulatory EEG (A-EEG): in both patients during interictal periods paroxysmal EEG discharges prevailing in temporal or fronto-temporal regions and slight abnormalities of the background activity in the same areas were detected. Laughing seizures were recorded in each patient particularly by means of A-EEG: in case 1 bursts of high-voltage activity ("theta" waves) followed by depression of the background rhythm and by irregular spike discharges located in left temporal region were observed; in patient 2 irregular generalised spike discharges followed by slow waves or by depression of the background activity were seen. The presence of local abnormalities in both patients can support the hypothesis that the cortex, especially of the temporal anterior lobe, is involved in the origin of the laughing seizures. The significance of the mechanisms of secondary generalization as regards the seriousness of the epilepsy and of the mental impairment in these patients is also suggested.
Minerva Pediatr 1991 Dec
PMID:[Epilepsy with laughing seizures, hypothalamic hamartoma and precocious puberty. Contributions of MRI, computed EEG topography (CET) and ambulatory EEG (A-EEG)]. 179 7

A survey of children attending schools for the moderately or the mildly mentally handicapped has shown that two out of 25 boys and two out of 22 girls with idiopathic moderate mental retardation had the Martin-Bell syndrome, while none of 75 boys and one out of 51 girls with mild mental retardation were FRAXA positive. Consideration of these figures along with published studies suggests that 7% of moderate and 3.8% of mild idiopathic mental retardation in boys, and 2.5% of moderate and 3.3% of mild idiopathic mental retardation in girls may be due to the Martin-Bell syndrome.
J Ment Defic Res 1991 Dec
PMID:Moderate and mild mental retardation in the Martin-Bell syndrome. 180 Jul 51

It is now known that chromosome disorders form a major category of genetic disease, accounting for a large proportion of all reproductive wastage, congenital malformations, and mental retardation, as well as playing an important role in the pathogenesis of malignancy. A variety of new techniques can be used to identify the chromosomal location of genes directly that promises to revolutionize the field of chromosomal analysis.
An Esp Pediatr 1991 Dec
PMID:[Diagnostic advances in chromosomal analysis]. 182 56

Congenital toxoplasmosis has been confirmed in Indonesia. Many newborn children in Indonesia have congenital anomalies attributable to Toxoplasma gondii. The parasite is widespread, with seroprevalence rates of 2-63% in humans, 35-73% in cats, 75% in dogs, 11-36% in pigs, 11-61% in goats, and less than 10% in cows. The prevalence of Toxoplasma antibodies in pregnant women in the Dr Cipto Mangunkusumo Hospital in Jakarta is 14.3%, and in 50 abortions it is 67.8%. In patients with a history of one or more abortions or stillbirths, the prevalence is 21.5% and 22.8%, respectively. No significant difference has been found in women with or without histories of habitual abortions or stillbirths. In adults and children with chorioretinitis, the prevalence of antibody is 60%; in patients with other eye lesions, it is 17%. The prevalence in hydrocephalic children is 10.6%; in children with mental retardation, 44.6%; in children with eye lesions, 44.6%; and in children with signs of systemic diseases, 9.5%. The diagnosis of an acute Toxoplasma infection using the ELISA should be based on a significant increase in IgG levels in paired sera or on detection of IgM.
Southeast Asian J Trop Med Public Health 1991 Dec
PMID:Study on the prevalence of toxoplasmosis in Indonesia: a review. 182 46

The fragile X [fra(X)] syndrome is the most common inherited form of X-linked mental retardation and is associated with a rare folate sensitive fragile site on the X chromosome at band Xq27.3. Recently, a common fragile site located at chromosome band Xq27.2 was delineated (Sutherland & Baker 1990). In order to confirm the previous findings and to further investigate the conditions required for induction of both types of fragile sites, we studied the use of four experimental protocols. Samples from a control male, two fra(X) males and a fra(X) carrier female were studied. Both common and rare fragile sites were seen in the samples from the fra(X) subjects. Up to 4% of cells showed both common and rare fragile sites on the same X chromosome at the 500 band level. The rare and common fragile sites on the X chromosome could be clearly distinguished. From 1 to 3% of the control cells exhibited the common fragile site, while none exhibited the rare fragile site. These protocols should be useful in resolving questionable fra(X) syndrome diagnoses.
Clin Genet 1991 Dec
PMID:Simultaneous expression of the rare and common fragile sites on the X chromosome. 183 37

Immune abnormalities in autistic children led us to study for indirect evidence of immune activation as measured by the serum analysis of soluble interleukin-2 (sIL-2), interleukin-2 receptor (sIL-2R), T8 antigen (sT8), and interleukin-1 (sIL-1). The serum concentration of these soluble antigens was quantitated by enzyme-linked immunosorbent assays. The concentration of sIL-2 and sT8, but not of sIL-2R and sIL-1, antigens was significantly (P less than 0.05) increased in the sera of autistic children over that in the control healthy children or children with mental retardation (non-Down's syndrome). This finding indirectly indicates that the activation of a subpopulation of T cells occurs in some children with autism.
Clin Immunol Immunopathol 1991 Dec
PMID:Changes of soluble interleukin-2, interleukin-2 receptor, T8 antigen, and interleukin-1 in the serum of autistic children. 193 32


<< Previous 1 2 3 4 5 6 7 8 9 10 Next >>