Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Pivot Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Target Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Query: UMLS:C0025362 (
mental retardation
)
15,878
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
We report the case of a 12-year-old child suffering from
mild mental retardation
, hypotonia, long hands with tapering fingers, microcephaly, truncal obesity, particular facial features. The association of these abnormalities has been known as Cohen Syndrome since 1973. Such a dysmorphic syndrome is usually inherited as an autosomal recessive trait whose gene has not been yet localized. There is no biological marker and the diagnosis is made only on a clinical basis. The diagnosis is quite difficult because of the intrafamiliar variation and the lack of a symptom present in 100% of the cases. From the analysis of the literature it proves that the more frequent symptoms are:
mental retardation
, open mouth, short philtrum, high palate, hypotonia. Because of the diagnostic difficulties it is possible that this syndrome was underestimate. Moreover, it is usually diagnosed too late, (mean age: 12,9). Therefore, we think necessary to consider the possibility of Cohen Syndrome in the case of every
mental retardation
of unknown cause.
...
PMID:[Cohen syndrome. A new case and review of the literature]. 779 17
This review of studies on the prevalence of mental disorders in adults with
mental retardation
comes to the following principal conclusions: Mainly due to research problems and psychiatry's disinterest there continues to be limited epidemiological findings; compared with people of normal intelligence the prevalence rate of mental disorders is about 50% higher in
mild mental retardation
and 2-3 fold higher in severe mental retardation; substance abuse or -dependence as well as neurotic disturbances may be less prevalent while self-injurious behaviour seems to be rather specific for subjects with
mental retardation
. As far as factor analytic studies are concerned the two syndromes of irritability and lethargy may play a major role in the psychopathology of severe mental retardation.
...
PMID:[Psychological disorders in mental handicap--prevalence and psychopathologic characteristics]. 794 46
The most notable features of fetal alcohol syndrome involve the face and eyes, and include microcephaly, short palpebral fissures, an underdeveloped philtrum and a thin upper lip. Evidence of intrauterine or postnatal growth retardation,
mental retardation
or other neurologic abnormalities, and at least two of the typical facial features are necessary to make the diagnosis. Newborns with the syndrome may be irritable, with hypotonia, severe tremors and withdrawal symptoms.
Mild mental retardation
, the most common and serious deficit, and a variety of other anomalies may accompany fetal alcohol syndrome. Sensory deficits include optic nerve hypoplasia, poor visual acuity, hearing loss, and receptive and expressive language delays. Atrial and ventricular septal defects, as well as renal hypoplasia, bladder diverticula and other genitourinary tract abnormalities, may occur. Complete abstinence during pregnancy is recommended, since alcohol consumption in each trimester has been associated with abnormalities, and the lowest innocuous dose of alcohol is not known.
...
PMID:Fetal alcohol syndrome. 794 1
External memory strategies (e.g., moving objects) were investigated in 11-year-old children with
mild mental retardation
and 7- and 11-year-olds without
mental retardation
. Participants attempted to place objects at specified spatial locations after hearing sequences of tape-recorded instructions. During baseline, children with
mental retardation
and 7-year-olds used external strategies more frequently than did 11-year-olds. All three groups used external strategies after prompting that represented the correct spatial locations, and all used the same tactics. In contrast to expected deficiencies in the use of strategies, results show areas of overlap in strategy capabilities among the groups.
...
PMID:Intellectual and developmental differences in external memory strategies. 794 52
During an ongoing study on X-linked
mental retardation
, we ascertained a large family in which
mild mental retardation
was cosegregating with a fragile site at Xq27-28. Clinical, psychometric, cytogenetic, and molecular studies were performed. Apart from
mild mental retardation
, affected males and females did not show a specific clinical phenotype. Psychometric assessment of four representative affected individuals revealed low academic achievements, with verbal and performance IQs of 61-75 and 70-82, respectively. Cytogenetically the fragile site was always present in affected males and was not always present in affected females. With FISH the fragile site was located within the FRAXE region. The expanded GCC repeat of FRAXE was seen in affected males and females either as a discrete band or as a broad smear. No expansion was seen in unaffected males, whereas three unaffected females did have an enlarged GCC repeat. Maternal transmission of FRAXE may lead to expansion or contraction of the GCC repeat length, whereas in all cases of paternal transmission contraction was seen. In striking contrast to the situation in fragile X syndrome, affected males may have affected daughters. In addition, there appears to be no premutation of the FRAXE GCC repeat, since in the family studied here all males lacking the normal allele were found to be affected.
...
PMID:Segregation of FRAXE in a large family: clinical, psychometric, cytogenetic, and molecular data. 797 54
A 12-year-old girl presents with optic atrophy, pale papilla, amblyopia and microcephaly (-3 s.d.) with
mild mental retardation
and facial dysmorphism. She had mitral insufficiency with mitral prolapse and moderate short stature (-2.5 d.s.). She had normal flash visual evoked potentials, normal electroretinograms and electrooculograms and normal cranial CT scan as well as other lab tests to rule out malformations, tumors or multiple sclerosis. Her lymphocyte karyotype showed a variegated mosaicism with: 2 cells with 49, XX, +mar,+mar,+mar; 21 cells with 48, XX, +mar,+mar; 57 cells, with 47, XX,+mar; 20 cells with 46,XX; while parental karyotypes were normal. This syndrome therefore associates optic atrophy,
mental retardation
and microcephaly and short stature with chromosomal instability in the form of variegated mosaicism.
...
PMID:Optic atrophy, microcephaly, mental retardation and mosaic variegated aneuploidy: a human mitotic mutation. 798 82
Brain SPECT imaging was performed in 13 children with cerebral palsy (6 girls, 7 boys; age, 7-17 years) due to perinatal asphyxia with
mental retardation
and involved limbs were studied. The involved coronal slices were summated to a picture for the calculation of the perfusion defect indices as the quantitative and objective estimation of the perfusion defects in each brain. The records of IQ tests were scored from severe to
mild mental retardation
. Two experienced nuclear medicine physicians analyzed the results of the Tc-99m HMPAO brain SPECTs by visual interpretation. The involved limbs were judged by two pediatricians to be either the right or left side. The relationship among the Tc-99m HMPAO brain SPECTs, IQ test, and physical examinations of the extremities were established. The results showed that two cases of
mild mental retardation
had the smaller perfusion defect indices (< 0.1), six cases of severe mental retardation had the larger perfusion defect indices (> 0.30), and the other group was between the first two groups. Two cases of
mild mental retardation
did not have significant perfusion defects in the brain and involved limbs, and two cases with decreased visual acuity had definite perfusion defects in the occipital regions. The other cases had the matched perfusion defects of the brain with the involved limbs. The authors encourage the potential use of Tc-99m HMPAO brain SPECTs to predict the outcome of mental development and limb involvement.
...
PMID:The relationship among the quantitative perfusion-defect indices in Tc-99m HMPAO brain SPECT, IQ test, and involved extremities in children with cerebral palsy due to perinatal asphyxia. 800 62
The vigilance of young adults with
mild mental retardation
and without
mental retardation
was compared in two experiments in which observers performed two memory demanding, cognitively based, 60-minute tests. In Experiment 1, target probability was 5% or 30% with a 1.5-second event rate. Detection by observers with
mental retardation
declined more rapidly than did that of observers without
mental retardation
in both target probability conditions; further, their response criterion became increasingly more conservative. In Experiment 2, target probability was 10% or 30% with an 8-second event rate. Observers with
mental retardation
detected fewer targets under both target probability conditions. Subjects' response criterion differed as a function of level of intelligence from the onset of the vigil and did not change with time on task. Intelligence-related differences in vigilance were explained in terms of subjects' information-processing abilities.
...
PMID:Effects of target probability and memory demands on the vigilance of adults with and without mental retardation. 805 98
Individuals with
mental retardation
are almost twice as likely to demonstrate severe behavioral problems or symptoms of mental illness as are nonmentally retarded individuals. At present, however, the ability to diagnose a mental disorder in an individual with
mental retardation
is difficult, and instruments are needed to help facilitate this process. The Adolescent Behavior Checklist was developed with this purpose in mind. This self-report scale is used to assess the likelihood that an adolescent with
mild mental retardation
or borderline intelligence has a diagnosable mental illness. The 86-item yes/no self-report scale renders scores on eight subscales derived from DSM III-R. The checklist has been found to have good criterion and congruent validity and good test-retest reliability. Data regarding interrater reliability and the sensitivity and specificity of the scale are presented, as are implications for future research.
...
PMID:The Adolescent Behavior Checklist: normative data and sensitivity and specificity of a screening tool for diagnosable psychiatric disorders in adolescents with mental retardation and other development disabilities. 808 31
Previous studies have shown a lack of consensus in professionals' prognoses for individuals with
mental retardation
. The present study was designed to continue the investigation of professionals' prognoses for the achieved capabilities and residential and vocational placement of individuals with mild, moderate, or severe mental retardation. Four professional groups (N = 567 subjects) from 50 of the 52 University Affiliated Programs throughout the country were surveyed. The Prognostic Beliefs Scale was used. Results showed that physicians had significantly lower expectations and more pessimistic prognoses for children with moderate or severe mental retardation than did the other professionals. The only consensus on prognosis was for children with
mild mental retardation
. Results call into question one of the assumed benefits of interdisciplinary teams--communication--and its impact on professionals' expectations and prognoses for individuals with
mental retardation
.
...
PMID:Professionals' prognoses for individuals with mental retardation: search for consensus within interdisciplinary settings. 814 28
<< Previous
1
2
3
4
5
6
7
8
9
10
Next >>