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

Primary degeneration of the granular layer of the cerebellum is an autosomal recessive disorder exhibiting characteristic clinical features: hypotonia, strabismus, delayed motor development, nonprogressive ataxia, delayed language development with dysarthria and mental retardation. We studied fourteen children, seven of each gender. Neuroimaging tests including pneumoencephalography, computed tomography (CT) and magnetic resonance imaging (MRI) showed severe cerebellar atrophy in all. MRI best demonstrated the cerebellar lesion, revealing great uniformity amongst the cases. Vertebrobasilar angiography was performed in two cases and showed marked hypoplasia of the cerebellar arteries, predominantly the posterior inferior cerebellar artery (PICA) and its branches. Necropsy was performed in three cases; cerebellar atrophy with loss of granular cells and diverse abnormalities of the Purkinje cells was found in two. The third, the sister of one of the other two cases, had a similar but shorter clinical course and died at three months of age. Her sister, who died at 5 years of age, presented a severe cerebellar atrophy with typical changes in the granular cell layer and Purkinje cells. In the third patient, who lived three months, only focal cerebellar folial atrophy with no microscopic changes in the granular cell layers was present. Though this case cannot objectively be included in the cerebellar atrophy syndrome with granular cell loss, her family history and clinical picture suggest the same disease. The findings observed in our series and the study of cases described in the literature, suggest that there are several forms of this disease which differ mainly in severity and neurological evolution. The cerebellar lesion seems to be a progressive atrophic process with the most severe changes during the early years of life.
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PMID:Primary degeneration of the granular layer of the cerebellum. A study of 14 patients and review of the literature. 782 90

The purpose of this study was to investigate the clinical characteristics of children with mental retardation (MR) of unknown etiology for early recognition and intervention. In this study, we defined children with MR of unknown etiology as those without clear etiologies for MR despite extensive evaluation and were not associated with pathological behavioral problems such as pervasive developmental disorders and attention-deficit/hyperactivity disorder. The clinical characteristics of children with MR of unknown etiology were as follows. 1) MR of unknown etiology was 48.8% of all MR. 2) MR of unknown etiology was more common in males. 3) Delayed language development was a leading factor that made the parents of children with MR of unknown etiology seek help from physicians. However, most of the children with MR of unknown etiology showed a relatively uniform delay in several areas of development. 4) Most children with MR of unknown etiology were delayed walkers. 5) Most children with MR of unknown etiology were mild cases.
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PMID:Clinical characteristics of children with mental retardation of unknown etiology in Korea. 1033 56

Language development in 32 preschool siblings (aged 2-6 years) of children with diagnosed autistic spectrum disorder (ASD) was compared with that of a control group of 28 typical preschool children. Groups were matched by siblings' age, gender, maternal educational level and family income. The mean ages of the siblings group and the control group were 4.2 and 4.4 years. Eight of the siblings had delayed language development, of whom three received a diagnosis of developmental language disorder (DLD) and one of ASD. The sibling with ASD and two of those with DLD were excluded; the remaining 29 siblings and the controls were administered the Stanford-Binet IV. Verbal IQs of siblings were not significantly different from the control group. Siblings of children with ASD associated with intellectual impairment ('mental retardation' (MR) in Thailand) had significantly lower verbal IQ scores than siblings of children with ASD but without MR.
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PMID:Language development among the siblings of children with autistic spectrum disorder. 1735 15

Chiari I malformations are congenital abnormalities that are etiologically heterogeneous. Some studies recognize a probable association between Chiari 1 malformation, delayed language or motor development, and mental retardation with or without epilepsy. The present patient appeared to have an isolated cleft palate and Chiari 1 malformation with co-existing functional and behavioral disorders (i.e., speech delay, mental retardation, and deviant electroencephalography [EEG]). In consideration of the cleft palate population, the implication of the present case study is that more attention should be paid to the developmental milestones in children with cleft palate. Because several cases of Chiari I anomaly co-occurring with mental retardation and deviant EEG or epilepsy have been recognized, it appears justified to identify a syndrome, which is here called CHERI (Chiari 1 malformation with or without cleft palate, deviant EEG or epilepsy, and retarded intelligence with delayed language development). It will be important in the future to describe those cases identified to delineate the clinical picture and to estimate the frequency of the occurrence of various characteristics.
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PMID:CHERI: time to identify the syndrome? 1741 88