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)

Cognitive impairment occurs in one-third of patients with Duchenne muscular dystrophy, a lethal X-linked, recessive disease caused by mutations in the dystrophin gene which is expressed in both brain and muscle, the two transcripts having alternative first exons. Previous reports have indicated that the 'brain-type' dystrophin transcript predominates in brain. Using in situ hybridisation with antisense oligonucleotides, expression of four distinct mRNAs in specific brain areas is demonstrated here; the 14 kb muscle-type and brain-type transcripts were found to coexist in cortical and hippocampal neurons and two new transcripts have been identified in dentate gyrus and cerebellar Purkinje neurons, respectively. The latter has a novel first exon which was isolated and sequenced from mouse and human, and which would encode a protein with a different amino-terminus from the known muscle- and brain-type isoforms. Mapping in human located this exon in a large intron between the muscle-type promoter and second exon of the dystrophin gene. This finding of four alternative transcripts regulated by different promoters in brain reveals a new complexity to dystrophin expression that may have important insights for mental retardation mechanisms.
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PMID:Expression of four alternative dystrophin transcripts in brain regions regulated by different promoters. 130 51

Assessed patterns of stress in families of children with pediatric conditions that varied on 2 dimensions: (a) fatal vs. nonfatal outcome and (b) presence vs. absence of cognitive impairment. Families of children with cystic fibrosis (n = 23), diabetes (n = 24), and moderate mental retardation (n = 24) were compared to families of well children (n = 24) in 3 age groups. Maternal responses to a multidimensional measure of family stress, the Questionnaire on Resources and Stress--Short Form (QRS-S), indicated that families of children with chronic conditions did not differ from families of well children on scales assessing generic aspects of family stress, such as family conflict. However, diagnostic groups differed on QRS-S scales assessing stressors specific to the child's disability (e.g., families of children with mental retardation were characterized by concerns about caring for the child as an adult). There was no evidence of higher levels of stress for families of older children. Data on the internal consistency of QRS-S scales and their relation to measures of maternal and child adjustment are presented.
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PMID:Family resources and stress: a comparison of families of children with cystic fibrosis, diabetes, and mental retardation. 164 Mar 16

The fragile X syndrome, a common X-linked form of mental retardation and autism, affects females as well as males. Previous work has shown that approximately 35% of heterozygotes (women who carry the fragile X gene) demonstrate cognitive impairment. Thirty-two girls, 18 years or younger, who demonstrate the fragile X chromosome were evaluated and compared with 19 sisters who do not demonstrate the fragile X chromosome. Evaluations included a physical examination, behavioral assessment, and intelligence testing. Significant differences (in intellectual, behavioral, and physical features) were seen between the two groups. Twenty-five percent of fragile X-positive girls had an IQ in the mentally retarded range (IQ less than 70) and 28% had an IQ in the borderline range (70 to 84). Prominent ears, shyness, and poor eye contact were significant findings in fragile X-positive girls compared with fragile X-negative girls. Thirty-one percent of the fragile X-positive girls had significant attentional difficulties and most of these girls were successfully treated with stimulant medication. The majority of fragile X-positive girls in this study demonstrated significant behavioral and developmental problems which required identification and appropriate treatment. Pediatricians and health care providers should be aware of the frequency and manner with which fragile X affects females in order to initiate cytogenetic studies and treatment when indicated.
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PMID:Girls with fragile X syndrome: physical and neurocognitive status and outcome. 174 Dec 10

Thirty per cent of boys with Duchenne muscular dystrophy (DMD) suffer from various degrees of mental retardation. Since dystrophin, the protein absent in muscles of boys with DMD, is produced also in the brain, it was postulated that the deficiency of brain dystrophin might account for the mental retardation found in DMD boys. The mdx mouse, a mouse model of DMD, fails to produce dystrophin in muscle and brain. This prompted us to study the cognitive function of these animals. Learning and memory processes were studied in 10 mdx females and 9 genetically matched controls using the passive avoidance test. Statistically significant differences in the retention of the passive avoidance response was detected between mdx and control mice, indicating an impairment in passive avoidance learning in mdx mice. Our data reinforce the view that brain dystrophin deficiency is correlated with cognitive dysfunction and indicate that mdx mice might be a model for the mental retardation found in DMD boys.
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PMID:Passive avoidance behaviour deficit in the mdx mouse. 182 82

Used 3 methods of assessing behavioral disturbance in 79 children presenting with poor school performance to an interdisciplinary evaluation center. Findings revealed a very high frequency of behavior problems, particularly of the internalizing type, but few differences in frequency or type of behavior problems among 4 subgroups: children with learning disabilities, mental retardation, borderline intellectual functioning, and without learning disabilities or cognitive impairment. Behavioral problems were associated with lower perceptions of self-worth and family functioning characterized as more controlling, and less supportive. Findings are discussed in terms of the need for interactional models of learning and behavior problems.
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PMID:Behavior problems in children with the presenting problem of poor school performance. 232 8

Developmental disability, particularly mental retardation, both affects a person's cognitive functioning and places that person on an alternative track of development which, when combined with social, political and economic pressures, places the developmentally disabled person at increased risk for mental illness. The presenting symptoms of mental illness will be modified by the mentally retarded person's cognitive impairment, personality development, and massively different life experience, as will the nature of his interactions with helping agencies. Evaluation, diagnosis and treatment must evolve from an alliance with the mentally retarded persons, not with caretaking agencies, and must be modified to take into account the retarded person's powerlessness. The therapist must be prepared to act as both advocate and bridge-builder for the patient, with the patient's increasing participation. The therapist must be prepared to steer between the Scylla of ignorance about the diagnosis and treatment of mental illness in the mentally retarded and the Charybdis of financial disincentives for human service agencies to collaborate in their care. The advantages of inter-agency cooperation in the treatment of dually-diagnosed individuals is described and illustrated.
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PMID:Issues in the treatment of mentally retarded patients in the community mental health system. 382 6

There is an urgent need for efficient, non-invasive measures of neurotoxic insult in humans. The late positive component (LPC) of the event-related cortical potential may be such a measure. The latency and amplitude of the LPC have been related to both memory and response speed, two aspects of behavior which are indicators of neurological status. The LPC has been found to be altered in cases of known neurophysiological insult, including Alzheimer's disease, cerebrovascular disease, Parkinson's disease, surgical and traumatic damage, hyperkinesis, chronic alcoholism, mental retardation, and in schizophrenia. Further development of the LPC as a possible indicator of both the cognitive impairment due to neurotoxic substances as well as the site of neurological damage is warranted.
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PMID:The late positive component of the evoked cortical potential: application to neurotoxicity testing. 390 31

Eleven children with cerebral gigantism or Sotos' syndrome were assessed regarding their cognitive, emotional, and behavioral status. The children demonstrated high rates of emotional and behavioral disorders, but no specific pattern or personality style was detected. On the cognitive assessments, all of the children presented with cognitive impairment or mental retardation, the range of which was variable. As with other syndromes associated with developmental delay, there was a wide range of expression of problems.
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PMID:Emotional, behavioral, and cognitive status of children with cerebral gigantism. 673 59

Earlier surveys of cerebal palsy characterized patients with extrapyramidal (choreoathetoid) cerebral palsy as having little cognitive impairment and few associated deficits. Anoxia, which has now replaced neonatal hyperbilirubinemia as a major cause of this type of cerebral palsy, predictably produces a diffuse type of brain damage. Evaluations of children with extrapyramidal cerebral palsy seen in a pediatric habilitation center revealed high incidences of mental retardation, epilepsy, and other associated deficits. These findings have implications for the management and habilitation of children with extrapyramidal cerebral palsy.
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PMID:Extrapyramidal cerebral palsy: a changing view. 710 5

Ways were delineated in which group home employees can support individuals living in the home in the active expression of faith, both inside and outside the group home environment, and at the same time protect the freedom of others in the home who choose not to be involved in religious activities. After briefly reviewing some assumptions underlying the 1992 AAMR definition of mental retardation and describing the capability of religious expression for individuals with cognitive impairment, we presented several guidelines to assist group home staff members.
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PMID:Supporting the free exercise of religion in the group home context. 747 51


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