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)

Alexander disease is a rare, degenerative disorder of the central nervous system. It is characterized clinically by spasticity, seizures, dementia, loss of developmental milestones, and macrocephaly. Here we describe a 13-year-old boy with Alexander disease and severe scoliosis. The patient initially presented at 9 months of age, with profound mental retardation and a history of seizures. When he was 7 years old, a pediatrician had diagnosed Alexander disease (hypotonia, macrocephaly, and progressive low-density white matter predominantly in the frontal region on computed tomography examination). From the age of 10, thoracolumbar scoliosis had gradually become severe. Because treatment using a corrective brace would have produced major problems because of the patient's mental retardation, the scoliosis was successfully treated surgically, by careful posterior spinal fusion with instrumentation, and an autologous iliac crest bone graft. A 64 degrees curve was corrected to 18 degrees (72% correction). Scoliosis with Alexander disease is considered to be very rare because patients with the disease seldom survive long enough to develop spinal deformities.
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PMID:Scoliosis in a patient with Alexander disease. 1213 31

Among several genetic diseases that comprise mental retardation, Angelman syndrome (AS) has been extensively recognized and investigated. In the general population, the syndrome occurs in about 1 in 20,000 live births and its prevalence in severely mentally retarded individuals is 1.4%. These figures, however, may be an underestimate, because of the variable phenotype of AS. The main objective of this work was to investigate AS patients among a group of mentally retarded subjects, using the methylation pattern of the SNRPN gene, as determined by Southern blotting molecular analysis. The molecular investigation of 75 institutionalized individuals with severe to profound mental retardation resulted in the detection of 1 case with an abnormal methylation pattern of the SNRPN gene, corresponding to AS. The patient's phenotype was classified as atypical, without outbursts of inappropriate laughter or a happy disposition; the patient would not have been diagnosed in the usual screens for AS, which only select patients who demonstrate the typical clinical findings characteristic of the disease.
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PMID:Angelman syndrome methylation screening of 15q11-q13 in institutionalized individuals with severe mental retardation. 1221 53

Empirical literature examining the emotional lives of adults with severe and profound mental retardation is limited. One area to have received attention is mood. It is proposed that the utility of assessment of mood extends beyond psychiatric diagnosis to issues such as the appraisal of quality of life for individuals with limited or no expressive language. Two themes related to the assessment of mood are evident in contemporary literature. First, attempts have been made to clarify presentation of affective disorders, especially depression, and to improve assessment of depressive symptomatology in adults with mental retardation. A review of current methods for assessing depression indicates significant problems with reliability and validity. There is a need to develop appropriate assessment methods for use in relation to adults with severe and profound mental retardation who are unable to self-report and behavioral methodology might be useful in this respect. Second, there is an emerging argument that presentation of depression in adults with mental retardation, particularly in individuals with severe disabilities, includes challenging behaviors, referred to as "atypical symptoms." Methodological and conceptual issues related to this argument warrant closer examination. Finally, it is noted that research drawing on more rigorous methodology is required to interpret the emotional states of individuals with severe and profound mental retardation.
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PMID:The assessment of mood in adults who have severe or profound mental retardation. 1257 71

During the planning stages of deinstitutionalization, the importance of nursing services must be recognized and given priority consideration in the community placement of persons with serious developmental disabilities. The objective of this study was to survey the medical and nursing profile of a group of nonambulatory, institutionalized individuals with profound mental retardation in anticipation of their nursing and medical needs in the community. Data were collected from the Individual Habilitation Plans of 55 individuals who had resided in a residential facility for individuals with mental retardation and were scheduled for community placement Serious medical problems in decreasing frequency were constipation (96%), seizure disorder (70%), poor dental hygiene (67%), cerebral palsy (62%), scoliosis (61%), contractions (41%), aspiration (44%), skin lesions (40%), and dysphagia (22%). Considering the complexity of health issues encountered in this population, adequate nursing and medical planning are critical to the wellness and successful community placement of a population with special needs.
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PMID:Survey of nursing and medical profile prior to deinstitutionalization of a population with profound mental retardation. 1258 97

The cerebellum is involved in motor and cognitive functions and behavior. Its role in controlling epileptic seizures has been demonstrated in the literature. Genetic factors can enhance epilepsy susceptibility when the cerebellum is damaged. We examined the occurrence and features of epilepsy, intelligence, and psychiatric disorders in 28 patients with cerebellar hypoplasia. We compared patients with (10; 35.7%) and without (18; 64.3%) epilepsy. The statistical evaluation showed a significant prevalence of familial antecedents for seizures in patients with epilepsy (P < .01); cerebral associated lesions and type of cerebellar hypoplasia did not influence the occurrence of epilepsy, which was partial in 80% of cases. Profound mental retardation prevailed in patients with epilepsy (P < .05). Both mental retardation (75%) and pervasive developmental disorders (17.8%) prevailed in our cases with respect to the general population (P < .000). Cerebellar hypoplasia in our sample seems to be an important risk factor for the occurrence of epilepsy, mental retardation, and psychiatric disorders.
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PMID:Epilepsy, intelligence, and psychiatric disorders in patients with cerebellar hypoplasia. 1266 30

The relation between psychiatric symptoms and different types of challenging behaviour in adults with mental retardation was investigated, using an instrument designed for use by non-specialist informants. A sample of 165 persons with mental retardation was surveyed for the presence of psychiatric symptoms, level of mental retardation, and self-injurious and other types of challenging behaviour. Challenging behaviour was associated with increased prevalence of psychiatric symptoms, especially anxiety and psychosis, less with hypomania, and not with depression. No association between anxiety and self-injurious behaviour was found. An association between psychiatric symptoms and challenging behaviour on a group level is an initial step towards understanding causes of challenging behaviour. Issues remain, like how causation takes place on an individual level, and the nature of psychiatric disorders in persons with severe and profound mental retardation.
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PMID:Prevalence of psychiatric symptoms in adults with mental retardation and challenging behaviour. 1295 Nov 30

The congenital muscular dystrophies (CMD) are a heterogeneous group of autosomal recessive disorders. A new pathomechanism has recently been identified in a group of these disorders in which known or putative glycosyltransferases are defective. Common to all these conditions is the hypoglycosylation of alpha-dystroglycan. Fukuyama CMD, muscle-eye-brain disease and Walker-Warburg syndrome, each associated with eye abnormalities and neuronal migration defects, result from mutations in fukutin, POMGnT1 and POMT1, respectively, while mutations in the fukutin-related protein (FKRP) gene cause congenital muscular dystrophy 1C, typically lacking brain involvement. Another putative glycosyltransferase, Large, is mutated in the myodystrophy mouse. The human homologue of this gene is therefore a strong candidate for involvement in novel forms of muscular dystrophy. We studied 36 patients with muscular dystrophy and either mental retardation, structural brain changes or abnormal alpha-dystroglycan immunolabelling, unlinked to any reported CMD loci. Linkage analysis in seven informative families excluded involvement of LARGE but sequencing of this gene in the remaining 29 families identified one patient with a G1525A (Glu509Lys) missense mutation and a 1 bp insertion, 1999insT. This 17-year-old girl presented with congenital muscular dystrophy, profound mental retardation, white matter changes and subtle structural abnormalities on brain MRI. Her skeletal muscle biopsy showed reduced immunolabelling of alpha-dystroglycan. Immunoblotting with an antibody to a glycosylated epitope demonstrated a reduced molecular weight form of alpha-dystroglycan that retained some laminin binding activity. This is the first description of mutations in the human LARGE gene and we propose to name this new disorder MDC1D.
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PMID:Mutations in the human LARGE gene cause MDC1D, a novel form of congenital muscular dystrophy with severe mental retardation and abnormal glycosylation of alpha-dystroglycan. 1296 29

The study of equivalence relations exhibited by individuals with mental retardation and language limitations holds the promise of providing information of both theoretical and practical significance. We reviewed the equivalence literature with this population, defined in terms of subjects having moderate, severe, or profound mental retardation. The literature includes 55 such individuals, most of whom showed positive outcomes on equivalence tests. The results to date suggest that naming skills are not necessary for positive equivalence test outcomes. Thus far, however, relatively few subjects with minimal language have been studied. Moreover, we suggest that the scientific contributions of studies in this area would be enhanced with better documentation of language skills and other subject characteristics. With recent advances in laboratory procedures for establishing the baseline performances necessary for equivalence tests, this research area is poised for rapid growth.
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PMID:Equivalence relations in individuals with language limitations and mental retardation. 1367 12

Mutations in the coding region of the angiotensin II type 2 receptor gene (AGTR2) were recently identified to cause X-linked recessive mental retardation. We report a mutation screening of the AGTR2 gene in 57 Finnish male patients with non-syndromic mental retardation. We identified two mutations, a 62G-->T transversion, which leads to a substitution of glycine for valine (G21V) and a 157A-->T transversion, which causes a substitution of isoleucine for phenylalanine (I53F). The patients with AGTR2 sequence variants had severe/profound mental retardation, epileptic seizures, restlessness, hyperactivity, and disturbed development of speech.
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PMID:Identification of two AGTR2 mutations in male patients with non-syndromic mental retardation. 1472 54

Multi-sensory stimulation provided in a Snoezelen room is being used increasingly for individuals with mental retardation and mental illness to facilitate relaxation, provide enjoyment, and inhibit behavioral challenges. We observed aggressive and self-injurious behavior in three groups of 15 individuals with severe or profound mental retardation and mental illness before, during, and after being in a Snoezelen room. All participants were receiving psychotropic medication for their mental illness and function-derived behavioral interventions for aggression, self-injury, or both. Using a repeated measures counterbalanced design, each group of participants was rotated through three experimental conditions: Activities of Daily Living (ADL) skills training, Snoezelen, and Vocational skills training. All other treatment and training activities specified in each individual's person-centered plan were continued during the 10-week observational period. Both aggression and self-injury were lowest when the individuals were in a Snoezelen room, followed by Vocational skills training and ADL skills training. The levels in the Snoezelen room were significantly lower than in both the other conditions for aggression but only in ADL skills training for self-injury. The difference in levels before and after Snoezelen were statistically significant with self-injury but not with aggression. The order of conditions showed no significant effect on either behavior. Snoezelen may provide an effective context for reducing the occurrence of self-injury and aggression.
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PMID:Effects of Snoezelen room, Activities of Daily Living skills training, and Vocational skills training on aggression and self-injury by adults with mental retardation and mental illness. 1513 93


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