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

The interstitial deletion of a segment of chromosome 13, 13q21 leads to 13q22, and its inversion and insertion into the long arm of chromosome 3 at breakpoint q12, was found to segregate in 3 generations of a family. Segregation of this 3 break rearrangement gave rise to individuals monosomic, trisomic, or balanced for the involved segment. Monosomy for 13q21 leads to 13q22 was associated with mental retardation, expressive aphasia, microcephaly, hand abnormalities, and short stature. Partially trisomic individuals had normal mentality, extremely high arched palate, and mild dysmorphic features. There was no evidence for retinoblastoma in the individuals examined. The balanced carriers were normal. Comparison of monosomic individuals with one previous report of a similar deletion reveals marked phenotypic similarities.
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PMID:Segregation of an insertional chromosome rearrangement in 3 generations. 73 29

We describe a 5-generation Hispanic family with 13 males and 1 female affected with MASA syndrome. The proposita, a 17-year-old female, and her affected male relatives shared many of the cognate manifestations--mental retardation (14/14), aphasia or delayed speech (13/13), shuffling gait (8/13), adduction of thumbs (14/14)--as well as scoliosis (2/13) and increased deep tendon reflexes in the lower extremities (10/13). Southern analysis with the polymorphic DNA probes DXS14 (Xp11), DXS72 (Xq21), and F8C (Xq28) confirmed linkage to the Xq28 region with a maximum lod score of 3.01 for this family.
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PMID:Clasped-thumb mental retardation (MASA) syndrome: confirmation of linkage to Xq28. 160 19

We report on a family with three males with MASA syndrome (mental retardation, aphasia, shuffling gait, and adducted thumbs). One patient demonstrated spastic paraplegia and psychomotor retardation but no adducted thumbs. The described family underlines the clinical variability in MASA syndrome. DNA studies confirm linkage to DNA markers of the Xq28 region. Analysis of published cases with hereditary spastic paraplegia (HSP), where linkage studies have been carried out, emphasizes the clinical variability in MASA syndrome and other types of HSP, thus making a definite diagnosis in single cases often impossible.
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PMID:MASA syndrome: clinical variability and linkage analysis. 195 49

The authors have reported here fraternal twins of moyamoya disease. The one has the onset at the age of two years and six months. Then he had suffered from multiple cerebral infarction and resulting in severe neurological deficits. Now he has right hemiparesis, left homonymous hemianopsia, aphasia and mental retardation. The encephalomyo synangiosis was done to the boy bilaterally at the age of five years. The other one has the onset at the age of five years and five months. He had good physical and neurological development. The Superficial temporal artery-Middle cerebral artery anastomosis and Encephalomyo synangiosis were done bilaterally. Now his development has no problems. The twins and their younger sister all have the same HLA type. The hereditary and environmental factors may be completely related to the pathogenesis of this disease.
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PMID:[Moyamoya disease in fraternal twins]. 207 55

We describe a two generation family in which two males have the X linked recessive MASA syndrome (mental retardation, aphasia, shuffling gait, and adducted thumbs). A third male in this family died at the age of 15 years from congenital hydrocephalus. In the present family cerebral abnormalities are reported for the first time. Linkage analysis confirms the chromosome localisation at Xq28. A crossover between the coagulation factor VIII locus (F8C) and MASA syndrome, but not with DXS52 and DXS305, locates the gene on the same side of F8C as DXS52 and DXS305. The possible relationship between MASA syndrome and X linked hydrocephalus is discussed.
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PMID:MASA syndrome: new clinical features and linkage analysis using DNA probes. 227 84

MASA syndrome (mental retardation, aphasia, shuffling gait and adducted thumbs) is an X-linked disorder first described in 1974. Since that time, two further pedigrees have been reported with similar features. The main clinical features are summarised by the acronym. Kenwrick et al. reported a separate family with X-linked recessive spastic paraplegia and mental retardation and demonstrated close linkage to DXS15 and DXS52 (DX13 and St14) at Xq28. Four affected individuals in this family were said to have absence of the extensor pollicis longus. Here we report a family where two adult brothers and their nephew have the phenotype of MASA syndrome. We demonstrate by clinical and gene mapping studies that MASA syndrome is most likely the same condition as that described by Kenwrick et al., and we review its clinical course and presentation.
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PMID:MASA syndrome: further clinical delineation and chromosomal localisation. 273 68

Congenital dysphasia is a developmental speech disorder not explained by deafness, phonation disorder, mental retardation, neurologic lesion, or psychiatric disease. The existence of brain lesions has often been postulated but conventional investigations fail to demonstrate any cerebral abnormality. By means of [99mTc]hexamethyl-propyleneamine oxime (HM-PAO) brain single photon emission computed tomography (SPECT) we have studied 14 children suffering from congenital dysphasia. The brain computed tomographic scan was normal in all cases. In two patients with expression impairment the SPECT study demonstrated a hypoperfusion in the inferior frontal convolution of the left hemisphere, involving the Broca's area. In nine of 12 patients with global dysphasia (deficits in both comprehension and expression), SPECT study showed two hypoperfused areas: an abnormality in the left temporoparietal region and a hypoactivity in the upper and middle areas of the right frontal lobe. These results suggest that congenital dysphasia could be due, like acquired aphasia, to specific impairment of the language cerebral areas and that brain SPECT studies with [99mTc]HM-PAO could be useful for a better comprehension of the physiopathology of these disorders.
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PMID:Regional brain blood flow in congenital dysphasia: studies with technetium-99m HM-PAO SPECT. 280 46

The authors report a case of Parry-Romberg disease with predominantly facial left atrophy, seizures, amnesic aphasia, mental retardation, right hemiplegia and hemianesthesia, and cerebellar syndrome. The rarity of cerebellar atrophy (only one case thus far reported in the literature surveyed) is emphasized, as well as the correlation between the clinical abnormalities and the computerized axial tomography of the skull.
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PMID:[Progressive facial hemiatrophy: report of a case]. 646 49

Systematic psychometric evaluations were performed in 16 patients with myotonic muscular dystrophy (MMD). All patients received the Wechsler Adult Intelligence Scale-Revised and Wechsler Memory Scale-1. In addition, 13 patients received the Reitan-Halstead Neuropsychological Test Battery (R-H), including the Aphasia Screening Test. Despite the high reported incidence of mental retardation in MMD, none of our pilot population showed mental retardation. However, 5 of the 13 patients showed evidence of possible organic mental dysfunction on the R-H. Problems in previous studies which could explain these discrepancies include the following: (1) small sample size, (2) studies limited to young children, and (3) a complete lack of systematic psychometric data in the previous reports. Systematic cooperative studies are suggested to elucidate the degree and type of cognitive involvement in MMD.
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PMID:Psychometric evaluation in myotonic muscular dystrophy. 647 87

Primary degenerative dementia (Alzheimer's disease) is characterized by intellectual decline with impairment of memory, judgment, and abstract thinking. Also common are personality changes and disturbances of higher cortical function such as aphasia, apraxia, and agnosia. Standardized brief cognitive tests are useful for evaluating mental status, which is often limited by short attention span, distractibility, fatigability, mental retardation, illiteracy, and/or confusion. Data from 225 institutionalized patients support the mini-object test (MOT) as a valid, reliable, cost-effective, portable screening procedure for confirming the clinical diagnosis of aphasia-apraxia-agnosia associated with senile dementia of the Alzheimer type. Further studies are needed to demonstrate the diagnostic value of the MOT in other dementing disorders.
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PMID:Mini-object test: a new brief clinical assessment for aphasia-apraxia-agnosia. 682 78


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