Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0917816 (mental retardation)
 15,867 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Norrie disease is a rare disease of newborn males caused by prenatal or perinatal retinal detachment, which may be associated with mental retardation, psychosis, and/or hearing loss. DXS7 (L1.28) and MAO A and B loci have been linked to the ND locus on the short arm of the X chromosome. Sequences homologous to OAT also have been mapped to the short arm of the X chromosome. We performed linkage analyses between the ND locus and one of the OAT-like clusters of sequences on the X chromosome (OATL1), using a ScaI RFLP in a ND family, and increased the previously calculated lod score (z) to over 3 (3.38; theta = 0.05). Similarly, we calculated a lod score of 4.06 (theta = 0.01) between the OATL1 and DXS7 loci. Alone, the OATL1 ScaI RFLP system is expected to be informative in 48% of females. If this system were used in combination with the DXS7 TaqI polymorphism, 71% of females would be informative for at least one of the markers and 21% would be informative for both. Because the OATL1 ScaI RFLP is a relatively common polymorphism, this system should be useful for the identification of ND carriers and affected male fetuses and newborns.
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PMID:Linkage analysis of Norrie disease with an X-chromosomal ornithine aminotransferase locus. 790 52

Psychotropic drug use was investigated using a sample of 209 psychiatric in-patients at Harare Central Hospital, (92 patients) and Parirenyatwa Central Hospital, (117 patients). The patients' ages ranged from 10-80 years, 67pc of whom were males. Psychiatric diagnosis interacted in its effect with the number of psychotropic drugs. Schizophrenia or effective disorders were prescribed the most drugs per patient, i.e. 2.6 drugs. Antipsychotics were the most commonly used psychotropic drugs, accounting for 59.3pc of the total (51.4pc being schizophrenics), followed by antiparkinson drugs, (23.8pc), tricyclic antidepressants, (8.6pc), lithium, (4.9pc), benzodiazepines, (0.6pc) and anticonvulsants (0.7pc). The prevalence of psychotic illness was 69.3pc; affective disorders, 21.2pc; behavioural disorders, 4.2pc; alcohol and related disorders (confusion and cirrhosis), 3.3pc and mental retardation. Traditional medicine was often sort before any other or after other therapies had failed or to complement orthodox medication.
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PMID:Drug utilisation in psychiatric units at Parirenyatwa and Harare Central Hospitals (Zimbabwe). 802 75

Chromosomal abnormalities associated with bipolar disorder may help in the localisation of susceptibility genes for bipolar illness by pinpointing 'candidate' regions of the genome for further study using molecular genetic methods. We review descriptions of chromosomal abnormalities in association with bipolar and related affective disorders and evaluate their relevance for localising susceptibility genes for bipolar disorder, using standardised criteria. We found 28 reports. We identified four genomic regions of potential interest: 11q21-25; 15q11-13; chromosome 21;Xq28. It is important that clinicians are able to recognise patients who may have chromosome abnormalities which could help in the localisation of susceptibility genes for psychiatric disorders. We suggest referral for specialist investigation and karyotyping, to a psychiatric genetics research group, of any patient with functional psychosis and one or more of the following: (a) a strong family history of functional psychosis; (b) mental retardation; (c) another disease known to be caused by a single gene; or (d) congenital abnormalities.
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PMID:Chromosomal aberrations and bipolar affective disorder. 786 91

Although antipsychotic medications have been successfully decreased or eliminated for many individuals with mental retardation, a minority suffer significant deterioration when dosages are decreased. Records of individuals residing on a 75-bed unit over a 5-year period were reviewed to determine differences in antipsychotic dosages over time. Presence of a psychotic diagnosis was a significant variable in increased antipsychotic dosage. Use of alternative medication (carbamazepine, buspirone, lithium, and propranolol) was related to decreased antipsychotic dosage. Findings suggest that individuals with mental retardation who do not have psychoses are a suitable group for reduction and that use of alternative medications facilitate this process for individuals with or without psychoses.
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PMID:Factors associated with reduction in antipsychotic medication dosage in adults with mental retardation. 810 98

Craniosynostosis is a little known organic factor in sociopathy. This factor should be among those taken into consideration in selecting patients to undergo craniotomy. Among 22,000 skulls of neuropsychiatric patients, there were 100 with premature coronal synostosis, compared with 57 with dolichocephaly. Thirty-seven of the 100 patients with coronal synostosis exhibited disorders of social adaptation; frontal cortex functions are assumed to be involved. There were 34 cases of mental deficiency, 21 cases of psychosis, 13 of cerebral vascular disease, 10 cases of epilepsy, 4 of acrocephalosyndactyly, 3 of decompensation by slight craniocerebral trauma, and 1 case of ependymoma of the IV ventricle. Dolichocephalic patients exhibited a stronger tendency towards depressive states and cerebral vascular disease. The risks of cosmetic impairment and resulting psychosocial problems are discussed; especially in girls with oxy- and scaphocephaly craniofacial correction, is indicated, as it is also in patients with Saethre-Chotzen syndrome. In cases of premature synostosis of the coronal suture or synostosis of several sutures for carrying out a craniotomy, it is advisable to employ a combination of orbito-frontosphenoidal osteotomy for extension of the anterior cranial fossa. Craniosynostosis is a risk factor which, depending on the individual case and the sex and age of the patient, can impair central nervous functions, social adaption, and the blood supply of the brain.
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PMID:Craniosynostosis as a risk factor. 826 13

The fragile X syndrome is one of the main etiologies of mental retardation in human beings. Some of its specific cognitive and language disturbances are nowadays well known. Disturbances of behavior are frequent. They are akin to psychotic manifestations and are mainly described in terms of autistic syndromes. The question of the possible links between autism and the fragile X syndrome is being discussed since 1980. The authors give a synthetic and critic overview of the studies reporting on the frequency of co-occurrence of these syndromes and offer some reflexion on the true questions at stakes in the debate. They emphasize the determining role of future clinical research in autism in order to objectively contribute to the progression of knowledge in this field.
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PMID:[Cognitive disorders and psychiatric manifestations in the fragile X syndrome. Autism and fragile X]. 836 20

The demographic and diagnostic characteristics of inmates in State adult correctional facilities who received 24-hour hospital mental health care, residential treatment care, and counseling/therapy in 1988 are reported by State and by type of administrative auspices under which the services are provided. Rates under treatment for 24-hour hospital mental health care were highest for the youngest (under 18) and oldest (65 and over) age groups, for females, and for whites. For counseling/therapy, rates were also highest for the youngest, for females, and for whites, but they declined with age. Rates in residential treatment were highest for the young and old and for whites, but about equal for males and females. Primary diagnoses of major psychoses predominated in 24-hour hospital mental health care. In residential treatment, a comparatively small proportion of the caseload had major psychotic disorders and a comparatively large proportion had substance abuse and mental retardation diagnoses. In counseling/therapy, personality disorders predominated. Individual State figures vary widely on these characteristics, both within and between service auspice types.
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PMID:Demographic and diagnostic characteristics of inmates receiving mental health services in state adult correctional facilities: United States, 1988. 841 23

Many individuals with mental retardation and mental illness who are on neuroleptics can have the dose reduced or discontinued. A recent study, however, suggests that individuals with psychosis not only may be difficult to discontinue from neuroleptics but also may require an increased neuroleptic dose. The current study is a retrospective chart review. Individuals were followed for 12 months postneuroleptic discontinuation. Individuals with a "psychotic" disorder were significantly more likely to be restarted on neuroleptics at 3 months and 12 months. A logistic regression failed to reveal any psychotic symptoms that predicted resumption on neuroleptics. An absent history of delusions, however, was significantly associated with remaining neuroleptic-free at 3 months.
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PMID:Discontinuation of neuroleptics in community-dwelling individuals with mental retardation and mental illness. 852 16

Schizophrenia is considered to be a heterogenous disorder. Different etiopathological mechanism can be attributed to a similar clinical picture as described in DSM-III-R criteria. We present a case of a young man diagnosed on different occasions as schizophrenic with mild mental retardation. Clinical examination revealed signs and symptoms most compatible with the diagnosis of Lujan-Fryns syndrome, an X-linked mental retardation syndrome with marfanoid features, frequently associated with psychotic or other psychiatric symptoms. In all patients with symptoms of schizophrenia and mental retardation Lujan-Fryns syndrome should be considered in the differential diagnosis.
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PMID:Lujan-Fryns syndrome in the differential diagnosis of schizophrenia. 872 50

The Reiss Screen for Maladaptive Behavior was factor analyzed in two institutional samples and one community sample of persons with mental retardation. In Sample I a general factor was found. In Samples 2 and 3 a three-factor structure was found. These three factors were named Intra-personal Maladaptive Behavior, Psychotic Behavior, and Extra-personal Maladaptive Behavior. None of the factor solutions bore any close resemblance to a factor structure implied by the seven scales on the Reiss Screen. The implications for the future development of assessments of dual diagnosis are discussed.
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PMID:The factor structure of the Reiss Screen for Maladaptive Behaviors in institutional and community populations. 882 38


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