Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0025362 (mental retardation)
 15,878 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A father, son, and daughter had a (3;15) (p27;q22) simple reciprocal translocation. No abnormality in the G-banding pattern was noted. The girl was most severely affected; she had an abnormal phenotype, noticeable delay in receptive and expressive language development, bilateral hearing impairment, and definite mental retardation. The boy had a moderate delay in receptive language skills, had moderate hearing impairment in one ear, and showed mild mental retardation. The father has low-set ears, some deficits in receptive language skills, is illiterate, and was found to be borderline mentally retarded. The mother and younger child do not have the translocation and are normal in terms of phenotype, intellect, and verbal skills. The accumulating evidence suggests that balanced translocations are associated with an increased frequency of intellectual deficit and congenital anomalies, and the cytogenetic mechanism may be that of position effect.
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PMID:Family with three apparently balanced t(3;15) (p27;q22) translocation carriers. Association with deficits in language acquisition and mental retardation: a possible example of position effect in man. 49 87

Kabuki make-up (Niikawa-Kuroki) syndrome has been described mainly in Japanese patients. In this paper we report sixteen new cases from Europe and North America, suggesting that Kabuki make-up syndrome may be more common outside of Japan than supposed. Their features are compared with those of the Japanese patients and most of our findings are similar to those previously reported. The facial phenotype is specific and easily recognizable, regardless of ethnic origin. Postnatal growth retardation and mild mental retardation are confirmed to be cardinal manifestations of the syndrome. Skeletal anomalies were present in all cases but most of the radiological changes were non-specific. The specificity of metacarpophalangeal pattern profile is not confirmed. Conversely, dermatoglyphic analysis is helpful in the diagnosis of this condition. Two differences have emerged between the Japanese patients and those in this study. Firstly, two-thirds of the patients in this series had significant neurological dysfunction other than mental retardation. Secondly, joint hypermobility appears more common in non-Japanese patients. Confirmation of these findings requires further studies.
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PMID:Kabuki make-up (Niikawa-Kuroki) syndrome: a study of 16 non-Japanese cases. 128 76

The hyperphenylalaninemias are caused by the defect of either phenylalanine hydroxylase (PAH) or tetrahydrobiopterin (BH4) cofactor. The former is diagnosed as phenylketonuria (PKU) or benign hyperphenylalaninemia, based on the serum phenylalanine values. The latter, so called malignant hyperphenylalaninemia, includes three enzyme defects, dihydropteridine reductase (DHPR), 6-pyruvoyl tetrahydropterin synthase (PT PS) and guanosine triphosphate cyclohydrolase (GTP-CH). Excess phenylalanine and its metabolites cause brain damage before 6 years of age. Deficiency of BH4 impairs two other hydroxylases (tyrosine and tryptophan), and severe neurological symptoms develop because of the lack of neurotransmitters. Tyrosinemia I, II, and III are different enzyme defects, fumarylacetoacetate hydrolyase (FAH), hepatic tyrosine aminotransferase (TAT), and 4-hydroxyphenylpyruvate acid oxidase, respectively. Tyrosinemia I is associated with severe involvement of the liver, kidney and central nervous system. Tyrosinemia II has mental retardation, palmar hyperkeratosis and corneal ulcers. Tyrosinemia III has mild mental retardation but no eye or skin manifestations.
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PMID:[The metabolic basis of the hyperphenylalaninemias and tyrosinemia]. 135 1

Fifteen preschool-age children with mild mental retardation (developmental delays) from mainstreamed schools were observed during two structured play sessions with matched peers without mental retardation. Children with developmental delays spent more time alone and when they played, showed less social play. The two groups did not differ on communication behaviors that maintained play or in negative affect; however, the children with developmental delays evidenced more disruptive entry, more regressive behaviors, and less positive affect. Families were interviewed concerning their attitudes about, and teaching of, social skills. For the children without mental retardation, level of social play was positively related to the family's teaching and the child's communication abilities. For the children with delays, social play related to developmental age and communication ability but not to family teaching.
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PMID:Social skills and their correlates: preschoolers with developmental delays. 137 Dec 15

Children and adults with mental retardation were tested on their ability to recognize facial expressions of emotion. The sample consisted of 80 children and adults with mental retardation and a control group of 80 nonhandicapped children matched on mental age and gender. Ekman and Friesen's normed photographs of the six basic emotions (anger, disgust, fear, happiness, sadness, and surprise) were used in a recognition task of facial expressions. Subjects were individually read two-sentence stories identifying a specific emotion, presented with a randomized array of the six photographs of the basic facial expressions of emotion, and then asked to select the photograph that depicted the emotion identified in the story. This procedure was repeated with 24 different stories, with each of the six basic emotions being represented four times. Results showed that, as a group, individuals with mental retardation were not as proficient as their mental-age-matched nonhandicapped control subjects at recognizing facial expressions of emotion. Although adults with mild mental retardation were more proficient at this task than those with moderate mental retardation, this finding was not true for children. There was a modest difference between the children with moderate mental retardation and their nonhandicapped matched controls in their ability to recognize facial expression of disgust.
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PMID:Recognition of facial expressions of emotion by persons with mental retardation. A matched comparison study. 141 13

Adults with mild mental retardation and equal-MA children and adults without mental retardation were required to (a) tactually examine single letters, two-letter words, bigrams, and Chinese characters with their right or left index finger and (b) indicate whether a visually presented stimulus was the tactually examined stimulus by saying "same" or "different." The left hand was significantly better for "same" responses and the right hand, for "different" responses, suggesting that hemispheric processing is dependent on information-processing requirements rather than type of stimulus. A left hand advantage for "same" Chinese characters by the children and adults without mental retardation was due to an increase in right hand latencies rather than a decrease in left hand latencies, again suggesting that different types of analyses are employed by the two cerebral hemispheres. Adults with mental retardation had the poorest accuracy and slowest latencies for correct "different" responses and significantly less differentiation of "same" and "different" responses (A') for all stimulus types. They identified "same" letters, words, and bigrams significantly faster than Chinese characters with their left hand and showed a trend toward the differential processing of bigrams ("same" latencies) as a function of hand.
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PMID:Haptic asymmetries in persons with and without mental retardation. 149 66

The prevalence of mental retardation defined as IQ less than 70 has been estimated as ranging between 6.7-11.9 per thousand children in the Nordic countries. Etiological factors can be found in 80% of patients with severe mental retardation (IQ less than 50) and in 50% with mild mental retardation (IQ 50-70). Down's syndrome is the most common specific cause of mental retardation, followed by the Fragile X syndrome, which mainly affects boys. Since the middle of the 1980s Rett's syndrome has been recognized as the most frequent cause of progressive mental retardation in girls. Recent advances in the field of chromosomal disorders, metabolic diseases and clinical syndromes imply a need for new epidemiological research aimed at obtaining an updated picture of the heterogenous causes of mental retardation.
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PMID:[Mental retardation in children. Prevalence and etiology]. 156 94

A case was described in which neuroleptic malignant syndrome reoccurred as the result of an inadvertent rechallenge in a woman with mild mental retardation. This potentially lethal disorder has an incidence of approximately 1% and a mortality rate of about 15%. Individuals with mental retardation are thought to be at greater risk, and some recommendations were offered to prevent recurrence.
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PMID:Recurrence of neuroleptic malignant syndrome via an inadvertent rechallenge in a woman with mental retardation. 158 31

The Stanford-Binet Intelligence Scale: Fourth Edition appears to be poorly suited for the intellectual assessment of children less than 5 years old who are thought to have mild mental retardation and for persons of any age who are thought to have severe mental retardation. The reasons for this conclusion were explained and reasons provided that support the continued use of Form L-M when assessing such children or older individuals with mental retardation.
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PMID:The Stanford-Binet: Fourth Edition and form L-M in assessment of young children with mental retardation. 158 32

The clinical manifestations and cytogenetic details of five patients with a de novo deletion of the short arm of chromosome 8, del(8)(p23), are described. Of the four surviving children all had mild mental retardation and subtle facial anomalies; three of the five had cardiac abnormalities. The clinical features seen in these patients are compared with those of three previous single case reports with del(8)(p23), and with patients described as having the '8p-' syndrome associated with del(8)(p21). The findings in these patients suggest that major congenital anomalies, especially congenital heart defects, are frequent even in small distal 8p deletions, but facial dysmorphism may be subtle and mental retardation less severe than in those with deletions associated with more proximal breakpoints. The five patients were detected within a four year period, suggesting that this deletion syndrome is relatively frequent. The possible mechanisms for the formation of terminal deletions are discussed.
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PMID:Distal 8p deletion (8p23.1----8pter): a common deletion? 161 36


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