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

Cytogenetic and verbal studies were done on members of four families with non-specific X-linked mental retardation. Cytogenetic analysis was done using media 199 and GTG-banding; one family had a marker X with a fragile site in band Xq27 or 28. Preliminary results indicate variation of culture conditions can effect the frequency of the marker X. A generalized language disability was found which tended to concentrate in the areas of auditory reception, auditory sequential memory, visual closure and grammatic closure. Articulation errors involved the same sounds which are late in normal development and occur most frequently in both the general population and a Down syndrome population.
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PMID:Familial X-linked mental retardation, verbal disability, and marker X chromosomes. 45 4

A family with X-linked mental retardation and a marker X chromosome was ascertained by the presence of macro-orchidism in the three institutionalized probands. Verbal evaluation revealed a generalized language disability with commonly occurring articulation errors. The heterozygous females in this family exhibited some reduction in mental ability; the marker X chromosome was demonstrated in both sexes.
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PMID:X-linked mental retardation with macro-orchidism and marker X chromosomes. 48 8

Five hundred six severe and profoundly mentally retarded persons (247 women and 259 men) from Wisconsin and Louisiana were assessed on the Diagnostic Assessment for the Severely Handicapped Scale. A factor analysis yielded six factor scales: tantrums, aggression/conduct, language disorder/verbal aggression, social withdrawal/stereotypy, eating disorders, and sleep disorders. These data demonstrate a nosology of symptoms loading more heavily on vegetative symptoms than what is evident with persons in the mild and moderate ranges of mental retardation and persons who are not mentally retarded. The implications of these findings are discussed.
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PMID:A factor analytic study of the Diagnostic Assessment for the Severely Handicapped Scale. 183 8

This study describes the speech/language development of 31 children who had been fitted with an endotracheal tube. Intubation in all cases occurred prior to 13 months of age and remained in situ for more than 3 months. These children were chosen from a pool of 130 potential subjects. Individuals diagnosed as having a primary neurological disorder, developmental delays, or mental retardation were excluded from the study. Demographic, birth, and medical factors that might also affect language outcome were documented. Standardized outcome measures were used to assess speech, language, and cognitive development of the children seen for testing. For the entire group of children, the overall measures of language functioning at follow-up were within normal limits and commensurate with cognitive ability. However, when a breakdown of results based on the children's ages was done, a clear pattern of language disability was noted in the expressive language of the oldest group of children tested. These findings raise questions about this group of children who were previously thought to develop speech and language skills normally.
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PMID:Speech and language development after infant tracheostomy. 229 31

Fragile X syndrome is the second most common chromosomal cause of mental retardation (MR). The calculated incidence is 1/1000, making accurate and early diagnosis important for specific preventive, pharmacologic, and cognitive treatment. The timely diagnosis in males is facilitated by the characteristic phenotype and an association with autism. In contrast, in females heterozygous for fragile X, the characteristic phenotype and infantile autism are rarely reported. We present two females with cytogenetic expression of the fragile X chromosome for whom the studies were performed because of the presence of autism or prominent autistic features and a behavioral and physical phenotype consistent with fragile X syndrome. The first female, age three years, has autism, hyperactivity, echolalia, language delay, hand stereotypies, and mild MR. The characteristic phenotype was not present nor was there a family history of X-linked MR. Fragile X expression was 6% in the proband, 3% in the mother and 1% (normal) in the father. The second child, seven years old, has prominent autistic features, hyperactivity, mild MR, mild language disorder, and a family history consistent with X-linked MR. Fragile X expression was 3% in the proband and 0% in the mother. These cases support the occurrence of fragile X in autistic females and emphasize the importance of cytogenetic screening for fragile X in this high risk population. Early diagnosis of fragile X allows precise genetic counseling and more specific cognitive and pharmacologic treatment.
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PMID:Autism in association with fragile X syndrome in females: implications for diagnosis and treatment in children. 320 May 5

The psychological findings on 10 children with cerebral gigantism are reviewed. Infants with cerebral gigantism showed a consistent pattern of psychomotor delay. Preschool age children demonstrated signs of a primary language disorder, and school-age patients had learning disabilities. The incidence of mental retardation was significantly lower than previously reported in the literature. The possibility that some children with cerebral gigantism can be easily misdiagnosed as mentally retarded is discussed.
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PMID:Cognition in cerebral gigantism: are the estimates of mental retardation too high? 666 20

We examined the prevalence of the fragile X mental retardation (FMR1) full mutation and fragile X E mutation (FMR2) among preschoolers evaluated for language delay. A total of 534 preschoolers recruited from a Developmental Pediatric or Speech and Language Disorders clinic were tested with Southern blot and polymerase chain reaction DNA analyses; 3 were found to have the FMR1 full mutation. None of the 534 children tested positive for the FMR2 full mutation; however, 3 children had unusually small FMR2 alleles suggestive of FMR2 deletions. Screening for fragile X among language-delayed preschoolers is warranted, particularly when there is a family history of mental retardation, but regardless of sex or the presence of behavioral or physical features associated with the fragile X phenotype. The potential benefit of screening for FMR2 alterations is an unexpected implication of the study and is worthy of continued exploration.
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PMID:The prevalence of the FMR1 and FMR2 mutations among preschool children with language delay. 960 81

A delay in speech development may be a symptom of many disorders, including mental retardation, hearing loss, an expressive language disorder, psychosocial deprivation, autism, elective mutism, receptive aphasia and cerebral palsy. Speech delay may be secondary to maturation delay or bilingualism. Being familiar with the factors to look for when taking the history and performing the physical examination allows physicians to make a prompt diagnosis. Timely detection and early intervention may mitigate the emotional, social and cognitive deficits of this disability and improve the outcome.
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PMID:Evaluation and management of the child with speech delay. 1039 94

Paroxysmal tonic upgaze of childhood has been described as a benign distinctive syndrome of abnormal ocular movement, with or without concomitant ataxia. After the first observation of four children, a further 29 patients have been reported with a wide spectrum of neurologic abnormalities such as ataxia, unsteady of gait, learning disabilities and mental retardation at follow-up. Electroencephalograms were normal in all the subjects and magnetic resonance imaging showed deficient myelination in only one patient. Recently it has been suggested that paroxysmal tonic upgaze could be a heterogeneous syndrome, ranging from a simply age-dependent manifestation to a clinical appearance of a variety of disorders affecting the corticomesencephalic loop of vertical eye movement. Moreover, it also could be an early sign of more widespread neurologic dysfunction. We describe three patients who presented paroxysmal tonic upgaze; in one, ataxia was present; in the second child, ataxia and language disorder also were observed; and in the third patient paroxysmal tonic upgaze was associated with loss of muscle tone (drop-attack-like events). On magnetic resonance imaging, a pinealoma compressing the dorsal mesencephalic region was detected. On the basis of our observations, we suggest that any insult with periaqueductal mesencephalic gray-matter involvement could be considered the basic condition for this peculiar clinical manifestation.
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PMID:Paroxysmal tonic upgaze: physiopathological considerations in three additional cases. 1064 3

The TM4SF2 gene (localized at Xp11.4 between the loci DXS564 and DXS556) has been found to be mutated in one MRX family. In order to define the corresponding behavioral phenotype, global IQ and specific cognitive skills were assessed in seven males and three females of this family, independent of subject status. Mental retardation (MR) was mild in three patients and moderate in three others. Despite the broad variability of severity of MR, a cognitive profile specific to the MR in this family was documented. It was characterized by language disorder that was more marked in the articulatory component and spatial/verbal short-term memory dissociation with larger mnemonic span for spatial than for verbal cues. Linkage analysis was then performed on the basis of the cognitively determined status. Recombinations were observed with the loci DXS556 at Xp11.4 and DXS441 at Xq13.2 (maximum LOD score = 2.23 at theta = 0 for ALAS2). This localization region does not include the TM4SF2 gene that has been found mutated in both patients with MR and in one non-MR male subject of this family. The present results suggest two main hypotheses. First, TM4SF2 gene mutation could be involved in MR in this family, therefore representing accentuated intra familial phenotypic variability. Second, the structural particularity detected in the TM4SF2 gene might reflect a rare polymorphism rather than a pathogenic mutation, with the gene responsible for MR in this family being therefore more likely to be searched for in the pericentromeric region of the X chromosome.
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PMID:TM4SF2 gene involvement reconsidered in an XLMR family after neuropsychological assessment. 1237 45


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