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Query: UMLS:C0025362 (mental retardation)
 15,878 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Fragile X (or Martin-Bell) syndrome is an X-linked disorder that often produces mental retardation in males, but usually affects heterozygous females to a lesser degree. Here we report the results of a brief neuropsychological examination of 20 heterozygous fra(x) girls and women and two control groups of 20 individuals each. One control group was composed of fra(x)-negative mothers (obligate carriers) and sisters of male probands with fra(x) syndrome, whereas the other was composed of 14 head-injured and six learning disabled women and girls. In addition to general intellectual impairment, several specific cognitive deficits were consistently found in individuals with the Martin-Bell syndrome, suggesting focal neuropsychological dysfunction. Significant differences were noted between fra(x) individuals and controls on most cognitive and neuropsychological measures studied. Over one-third of the fra(x) individuals demonstrated neuropsychological symptoms characteristic of the full developmental Gerstmann syndrome, whereas another third had three or four of the five signs of possible parietal lobe dysfunction. In our sample, there was an association between improved performance and increasing age. Differences among heterozygous individuals in number of focal symptoms may reflect some variability in the penetrance of the fra(x) gene, as well as in the functional organization of the brain.
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PMID:Neuropsychological dysfunction among affected heterozygous fragile X females. 168 6

In 1971, Andermann and Andermann described an autosomal recessive syndrome found within the Charlevoix and the Saguenay populations (Quebec, Canada) characterized by agenesis of the corpus callosum (ACC) associated with motor and sensory neuropathy, mental retardation and dysmorphic features. A study of CT in 64 patients demonstrated a total ACC in 37 cases (57.8%), partial ACC in 6 cases (9.4%) and the presence of the corpus callosum in 21 cases (32.8%). The latter was confirmed by MRI in 3 cases. CT of patients without ACC revealed a high frequency of developmental or degenerative midline anomalies, particularly interhemispheric fissure enlargement and posterior fossa atrophy. The clinical presentation and the natural course of the neuropathy, the intellectual impairment and the behavioural manifestations are identical amongst individuals with or without ACC. Individuals with or without ACC are found within the same family and often within the same sibship. These observations support the hypothesis of a single genetic syndrome in which the constant manifestation is the motor and sensory neuropathy.
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PMID:[Motor and sensory neuropathies with or without agenesis of the corpus callosum: a radiological study of 64 cases]. 235 46

Standard methods were employed to study clinically and psychologically 70 deaf schoolchildren with psychic developmental defects. These techniques allowed assignment of the schoolchildren to different groups by mental and cognitive capacity. Comparative assessment of clinical and psychological findings contributed to differentiation of dysontogenetic variants: mental retardation, encephalopathic forms of borderline intellectual deficiency and oligophrenia. A specific pattern of cognitive functions in deaf children should be accounted for when making differential diagnosis of clinical forms of mental deficiency in congenital and early acquired deafness.
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PMID:[Clinico-psychological study of deaf children and adolescents with residual organic syndromes and oligophrenia]. 318 65

The authors describe two sisters with the typical characteristics of cranio-metaphyseal dysplasia and mental retardation. They also discuss a cause-and-effect nature of the pathogenetic relationship of the intellectual deficiency and the systemic bone hereditary damage as well as the difficulty of assessing the type of heredity in the given family.
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PMID:[Familial craniometaphyseal dysplasia associated with mental retardation]. 399 2

In 50 cases of primary non-obstructive non-progressive hydrocephalus in infancy, possibilities of predicting later intelligence were investigated. The mean IQ was 80 +/- 24; in 50% of the cases IQ was normal, in 22% between 85 and 55 and in 28% below 55. The occipitofrontal circumference and the degree of ventricular enlargement had no correlation with the intellectual outcome in the children. Most prognostic value on the IQ had the age when reaching the developmental milestones, the degree of motor disability and the number of minor malformations. As there was no relation between the degree of hydrocephalus and the intellectual impairment, the conclusion can be made that associated anomalies of the CNS and defects in the cyto-architecture of the neocortex are more important factors in explaining mental retardation in cases of hydrocephalus.
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PMID:Intellectual sequelae of primary non-obstructive hydrocephalus in infancy: analysis of 50 cases. 409 5

Age levels for independent walking were compared for groups of children with varying degrees of intellectual impairment, but without other neurologic handicaps. All walked independently, save for 13.5 per cent of the profoundly retarded. Although mental retardation was associated with a delay in walking, subgroups existed at all levels that walked at a normal age. This suggests that the cognitive level is not the sole determinant for the achievement of this milestone.
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PMID:Age of walking in the cognitively impaired. 682 71

A large number of investigation techniques are used to establish the relationships between the clinical and biological data which are necessary for physiopathological analysis in the field of developmental disorders. It therefore seemed necessary to develop a quantified grouping system, based on developmental assessments, which could allow closer matching between clinical evaluations and biological numerical data. Two hundred and two subjects presenting developmental disorders (autistic disorder, pervasive developmental disorder not otherwise specified and mental retardation) were examined. For each child, a quantification of autistic behaviour, intellectual impairment, neurological signs and language and communication disorders was performed. A cluster analysis of these quantified data elicited four subgroups according to the scores obtained in these four different areas. We showed the value of this approach by applying it to one of the studies of monoamines routinely examined in childhood autism--dopamine and HVA, its main urinary derivative. Moreover, this method revealed a subgroup within the total population which was independent of nosographic classification and which had a particular clinical and biochemical profile. Other applications could follow, for example in the fields of neurophysiology, cerebral imaging, molecular biology and genetics.
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PMID:Quantified multidimensional assessment of autism and other pervasive developmental disorders. Application for bioclinical research. 779 50

Visual evoked potentials (VEP) to flash and patterned visual stimuli have been recorded from occipital and central brain regions in 7-8-year-old boys with normal intellect (20 cases), with mental retardation (15 cases) and with oligophrenia of a debile degree (27 cases). A significant elongation of late-component latency has been revealed in motor brain areas VEP in oligophrenia group compared to normal subjects. A negative correlation between P190 component latency of motor area VEP to patterned visual stimulus and general and non-verbal intellectual indices has been stated in full right-handed subjects with intellectual deficiency. Such a relation was absent in right-handed patients with left dominant eye.
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PMID:[Visual evoked potentials and functional asymmetry in children with with different degrees of intellectual retardation]. 804 97

The inherited forms of craniosynostosis can be divided into 4 groups: isolated craniosynostosis, craniosynostosis with syndactyly, craniosynostosis with polydactyly and syndactyly, and craniosynostosis with other somatic abnormalities. Acrocephalopolysyndactyly or Carpenter syndrome consists of craniosynostosis, short fingers, soft tissue syndactyly, preaxial polydactyly, congenital heart disease, hypogenitalism, obesity, and umbilical hernia. As many as three-fourths of the patients have some degree of intellectual impairment. The etiology of mental retardation in this syndrome has not been explored. A patient is reported with the features of Carpenter syndrome who has profound developmental delay and cerebral malformations demonstrated by magnetic resonance imaging and computed tomography. Because mental retardation is not an invariable feature of this syndrome or other craniosynostosis syndromes, neuroradiologic examination may help in predicting the intellectual outcome in these patients.
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PMID:Cerebral malformations in Carpenter syndrome. 835 58

Cerebellum malformations are frequently diagnosed since the advent of the neuroradiological studies (computed tomography, magnetic resonance imaging and ultrasonography). Cerebellar hypoplasia is found in association with a wide variety of neurologic and systemic disorders. Clinical picture in newborn may be different than in other periods of life. Two characteristics are interesting in neonatal period: their relation with abnormal respiratory control and mental retardation. The pathophysiology of cerebellar hypoplasia is uncertain, however experimental studies suggest than an abnormality of the Bergman glia may lead to the observed granulle cell layer deficiency in this malformation. It is tempting to speculate that a similar migrational abnormality in the cerebrum accounts for the intellectual impairment seen in some affected patients. Respiration is a complex neural function requiring precise coordination of numerous neural circuits. Cerebellar hypoplasia may be important in the pathogenetic mechanism of abnormal respiratory control due to cerebellar respiratory control disturbance. Also diaphragmatic dysfunction may occur in association with cerebellar atrophy. We report two newborns with cerebellar hypoplasia (vermis and hemispheres) associated with central respiratory and neurological dysfunction, and mental retardation.
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PMID:[Cerebellar hypoplasia in the newborn: association with respiratory control disorders and mental retardation]. 855 88


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