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At least 217 records · Page 12Linked to original sources
PubMed1988

Mental retardation, distinct facial changes, short stature, obesity, and hypogonadism: a new X-linked mental retardation syndrome.

We describe a 3-year-old boy and his 2 maternal uncles with moderate to severe mental retardation, short stature, mild obesity, hypogonadism, a low total finger ridge count, and a distinctive face characterized by bitemporal narrowness, almond-shaped palperbral fissures, depressed nasal bridge, anteverted nares, short and inverted-V-shaped upper lip, and macrostomia. Two other males in this family who had similar facial anomalies and developmental delay died in early infancy and midchildhood. This apparently new disorder is reminiscent of, but distinct from, the Prader-Willi syndrome, and is likely inherited as an X-linked recessive trait. Preliminary studies with DNA probes are consistent with an X-linked locus and permit exclusion of distal Xp and Xq regions as the site of this mutation.

Abnormalities, Multiple↗
PubMedDate not supplied

[Specific aspects of psychoses in mentally retarded children and adolescents].

Mental retardation is a heterogenous neurodevelopmental disorder characterized by arrested or incomplete psychological development. The first part of the study deals with psychological and biological factors: etiology and pathogenesis of mental retardation and comorbid psychiatric disorders. Their etiopathogenesis is similar as in other neurodevelopmental disorders and it was analyzed in the part dealing with biological specificities of persons with mental retardation. Numerous biopsycho-social factors cause increased vulnerability of the mentally retarded to development of mental disorders. Thus, prevalence of these disorders is higher in mentally retarded persons than in general population. This study also deals with specificities regarding diagnosis of psychotic disorders in mentally retarded persons as well as neurobiologic, epidemiologic, clinical and therapeutic characteristics of schizophrenic psychoses, autism and affective disorders in persons with mental retardation. Special emphasis was given to diagnostics of these disorders in mentally retarded children and adolescents, as well as to problems of differential diagnostics. Apart from other things, we have concluded that specific clinical pictures demand subspeciality approach in the frame of developmental psychiatry.

Adolescent↗
PubMed2003

Genetic syndromes among individuals with mental retardation.

Individuals with mental retardation more commonly have malformations and other structural anomalies than individuals without mental retardation. In many cases, the associated anomalies comprise recognizable syndromes caused by genetic or environmental insults. To co-occurrence of structural anomalies with mental retardation thus assists in the diagnostic evaluation, particularly in infants and young children. The coexistence of structural and mental abnormalities also suggests that both originated in the embryonic period of development.

Adolescent↗
PubMed2006

Medical care of adults with mental retardation.

Persons with mental retardation are living longer and integrating into their communities. Primary medical care of persons with mental retardation should involve continuity of care, maintenance of comprehensive treatment documentation, routine periodic health screening, and an understanding of the unique medical and behavioral disorders common to this population. Office visits can be successful if physicians familiarize patients with the office and staff, plan for difficult behaviors, and administer mild sedation when appropriate. Some syndromes that cause mental retardation have specific medical and behavioral features. Health issues in these patients include respiratory problems, gastrointestinal disorders, challenging behaviors, and neurologic conditions. Some commonly overlooked health concerns are sexuality, sexually transmitted diseases, and end-of-life decisions.

Constipation↗
PubMed2000

Two novel members of the interleukin-1 receptor gene family, one deleted in Xp22.1-Xp21.3 mental retardation.

X-linked mental retardation is estimated to affect approximately 1 in 600 males. Although numerous genes responsible for syndromic mental retardation have been identified, the study of non-syndromic mental retardation suffers from intrinsic issues of genetic heterogeneity. During the investigation of three brothers with a contiguous gene deletion syndrome of Becker muscular dystrophy, glycerol kinase deficiency, congenital adrenal hypoplasia, and mental retardation, we found their dystrophin gene to be fused tail-to-tail with a gene encoding a novel member of the interleukin-1 receptor family, IL1RAPL1. This gene has a close relative in Xq22, which we call IL1RAPL2. Both IL1RAPL1 and IL1RAPL2 have novel C-terminal sequences not present in other related proteins, and are encoded by very large genes. The 1.8-megabase deletion in these patients removes not only the last exon of the dystrophin gene, the entire glycerol kinase and DAX-1 genes, and the MAGE-B gene cluster, but also three exons encoding the intracellular signalling domain of IL1RAPL1. The literature contains multiple reports of patients with non-syndromic mental retardation in association with an Xp22.1-Xp21.3 microdeletion of a marker which lies within the IL1RAPL1 gene. The gene is also wholly or partially deleted in patients with mental retardation as part of a contiguous deletion syndrome. We suggest that IL1RAPL1, and perhaps IL1RAPL2, are strong candidates for X-linked non-syndromic mental retardation loci, and that molecules resembling IL-1 and IL-18 play a role in the development or function of the central nervous system.

5' Untranslated Regions↗
PubMed1996

Evidence for visual imagery deficits in persons with mental retardation.

Performance on four mental imagery tasks by two groups of adolescents with mental retardation with different etiologies (sociocultural, organic) were compared to that of children without mental retardation who were of comparable or lower MAs. Findings reveal an important deficit in imagery abilities in both retarded groups; their performance was poorer compared to the children without mental retardation matched on MA. Subjects with mental retardation due to sociocultural retardation scored higher on some tasks than did those whose mental retardation was due to organic causes. This finding underscores the need to consider etiology. This marked deficit in imagery ability in persons with mental retardation may be the source of other difficulties they encounter in cognitive activities that involve this representational format.

Adolescent↗
PubMed2003

Brief report: melatonin facilitates sleep in individuals with mental retardation and insomnia.

Mentally retarded people typically exhibit poor sleep efficiency and reduced nocturnal plasma melatonin levels. The daytime administration of oral melatonin to those people, in doses that raise their plasma melatonin levels to the nocturnal range, can accelerate sleep onset. We examined the ability of similar, physiological doses to restore nighttime melatonin levels and sleep efficiency in mentally retarded subjects with sleep deficits. In a double-blind, placebo-controlled study, mentally retarded subjects (n = 20) received, in randomized order, a placebo and two melatonin doses (0.1, and 3.0 mg) orally 30 minutes before bedtime for a week. Treatments were separated by 1-week washout periods. Sleep data were obtained by polysomnography on the last three nights of each treatment period. The physiologic melatonin dose (0.3 mg) restored sleep efficiency (p < 0.0001), acting principally in the midthird of the night; it also elevated plasma melatonin levels (p < 0.0008) to normal. The lowest dose (0.1 mg) also improved sleep.

Administration, Oral↗
PubMed1985

Epilepsy and psychiatric disorder in the mentally retarded adult.

302 mentally retarded adults, sampled by epidemiological criteria, were examined with regard to epilepsy and psychiatric disorder. Each of the complications was frequent and related to degree and origin of mental retardation. In 55 (18.2%) epilepsy had occurred at some time during their lives, in 25 (8.3%) of these in the past year. In 52% of persons with seizures in the past year a present state psychiatric diagnosis was established, compared to 26% in those without seizures. The nature of the combination of epilepsy and psychiatric disorder is complex, but in the mentally retarded most often reflecting underlying brain pathology in the form of widespread cortical and subcortical cerebral damage causing epilepsy of generalised or mixed type, and predominantly interictal psychiatric disorders unrelated in time to seizures and dominated by behaviour problems.

Adult↗
PubMed2000

Intestinal parasitic infections in an institution for the mentally retarded.

Of 550 mentally retarded patients in an Italian institution, 125 (23%) were found to be infected with intestinal parasites. The infections were most frequent in young men, those with severe mental retardation, the chronically institutionalized and those living in older wards. Ninety-four (75.2%) of the parasitised subjects were infected only with protozoa, 25 (20%) only with helminths, and six (4.8%) with protozoa and helminths. Entamoeba histolytica and E. dispar infections were detected, but at low prevalences; in-vitro culture in Robinson's medium and isoenzyme electrophoresis of the cloned amoebic isolates indicated one infection with E. histolytica (zymodeme XII) and two infections with E. dispar (zymodemes I and III). All three Entamoeba-positive subjects were asymptomatic cyst-passers. Antibodies to E. histolytica were detected in seven (1%) of the sera from the 550 patients examined; only one of these was a carrier of an E. dispar strain at the time of investigation. The low prevalences of all the parasitic infections and of the amoebic infections in particular (compared with those observed previously in institutions for the mentally retarded) reflect relatively good facilities and sanitary conditions, an adequate number of well trained staff and good control of the more susceptible subjects.

Adolescent↗
PubMed2006

The Croydon Assessment of Learning Study: prevalence and educational identification of mild mental retardation.

BACKGROUND: Mild mental retardation is an enduring and impairing condition. Its prevalence has varied widely across different studies from .5 to over 8%, with higher rates in completely ascertained samples. The current study estimates the prevalence of low IQ in the mental retardation range (intellectual disability) in a population sample and examines the factors that relate to educational identification. METHOD: A total of 2,730 children in school years 8 and 9 attending local authority schools were assessed in school with the group-administered Cognitive Abilities Test (CAT). A sample of 304 pupils at high, moderate and low risk of mild mental retardation was selected for in-depth study. This included the individually measured full-scale IQ (WISC-III(UK)), the Wechsler Quicktest of attainments, the Strengths and Difficulties Questionnaire from parents and teachers and an abbreviated version of the Social Communication Questionnaire. RESULTS: Of those selected for the in-depth study, 204 (67%) participated, with a greater proportion from the low risk group. A range of prevalence estimates were calculated using different imputation methods and assumptions about individuals not screened. Rates of pupils with WISC IQ < 70 varied from 5.8% to 10.6%. There were no significant gender differences. In contrast to the high prevalence estimates using the WISC, the proportion of pupils scoring in the lowest stanine on the CAT was as expected. Only 15% of those with IQ < 70 had a statement of special educational needs or attended a school for moderate learning difficulties. Behaviour, particularly social communication problems, predicted educational identification. CONCLUSIONS: The current study produced a high estimate of the prevalence of mild intellectual disability based on the WISC but not on the CAT. The findings highlight that the majority of mild intellectual disability in the UK would not be detected using registers. Cases that are detected by registers are more behaviourally disturbed than others.

Adolescent↗
PubMed1992

[Various genetic aspects of X-linked mental retardation].

X-Linked Mental Retardation constitutes an important pathologic entity in genetics. The overall significance, history and background of the concept of X-Linked mental retardation is reviewed with a special mention to the cases referenced under the term non-specific X-Linked mental retardation. The concept of lod-score has brought some improvement in the clinical delineation of the X-Linked mental retardation syndromes with some recent reports of suggestive linkage studies. The fragile-X syndrome is discussed with a special focus on reports of X-linked mental retardation with X chromosomal deletions or duplications. Linkage and molecular studies are reported viewing genetic approaches based on restriction fragment length polymorphisms. DNA probes spanning the length of the X and Y chromosomes which may prove critical to the development of diagnostic tests are referred. Computer assistance for a compilation of clinical findings in the X-linked mental retardation syndromes is specified as a diagnostic review and assistance program to check on the various entities. A joint collaborative investigation is reported to ascertain families with X-linked mental retardation in order to develop direct and linkage studies for the diagnosis of there disorders.

DNA, Recombinant↗
PubMed1992

The test-retest reliability and stability of the WAIS-R in a sample of mentally retarded adults.

Fifty mentally retarded adults were administered the Wechsler Adult Intelligence Scale-Revised (WAIS-R) on two separate occasions, with the mean amount of time between testings being 2 years, 8 months. The data were examined in an effort to study the test-retest reliability and stability of the WAIS-R with the mentally retarded. Based on correlational, t-value and percentage of scale score change information, the authors concluded that the WAIS-R IQs appeared to possess good test-retest reliability and stability over an approximate 2.5 year period for the present sample of mentally retarded adults.

Adult↗
PubMed2003

MRI in children with mental retardation.

BACKGROUND: In mental retardation (MR) an aetiological diagnosis is not always obtained despite a detailed history, physical examination and metabolic or genetic investigations. In some of these patients, MRI is recommended and may identify subtle abnormal brain findings. OBJECTIVE: We reviewed the cerebral MRI of children with non-specific mental retardation in an attempt to establish a neuroanatomical picture of this disorder. MATERIALS AND METHODS: Thirty children with non-specific MR were selected to undergo cerebral MRI. The examination included supratentorial axial slices, mid-sagittal images and posterior fossa coronal images. Brain malformations, midline and cerebellar abnormalities were studied. RESULTS: In 27 of 30 patients, the neuroimaging evaluation revealed a relatively high incidence of cerebral and posterior fossa abnormalities. The most frequent were: dysplasia of the corpus callosum (46%; hypoplasia, short corpus callosum and vertical splenium), partially opened septum pellucidum and/or cavum vergae (33%), ventriculomegaly (33%), cerebral cortical dysplasia (23%), subarachnoid space enlargement (16.6%), vermian hypoplasia (33%), cerebellar and/or vermian disorganised folia (20%), and subarachnoid spaces enlargement in the posterior fossa (20%). Other anomalies were: enlarged Virchow-Robin spaces (10%), white matter anomalies (10%) and cerebellar or vermian atrophy. CONCLUSIONS: MRI has shown a high incidence of subtle cerebral abnormalities and unexpected minor forms of cerebellar cortical dysplasia. Even if most of these abnormalities are considered as subtle markers of brain dysgenesis, their role in the pathogenesis of mental retardation needs further investigation.

Adolescent↗
PubMed2006

[Clinical characteristics and pharmacotherapy of extremely disruptive behavior disorders in people with mental retardation].

People with mental retardation often have behavioral problems. Psychotropic medications are used for the treatment of extremely disruptive behavior disorders in many cases. We surveyed the clinical characteristics and the current status of the pharmacotherapy regimens for inpatients with severe intellectual disabilities and behavior disorders at 8 national psychiatric hospitals. Many of them were men between 20 and 40 years and more than half of them had both extremely mental retardation and high motor ability. Antipsychotic drugs and anticonvulsants were frequently used. As they had more severe behavior disorder, they were taken the more psychotropic drugs. Autism was significantly associated and rough behavior was apparently associated with higher doses. A very weak correlation between the total score of extremely disruptive behavior disorders and the number of psychotropic drugs being administered per patient was seen. Use of new medicines, such as atypical antipsychotic drugs, was found about fifteen percent of the cases. In order to establish useful pharmacotherapy regimens for people with severe mental retardation and behavior disorders, it is necessary to perform routine judgment and evaluation of the pharmacotherapy focusing on targeted symptoms. We should also be attention to the quality of life issue. The aim of medical treatment should not be care workers' convenience, but be the improvement of quality of life of patients.

Adult↗
PubMed1991

[Criteria for the social and vocational prognosis in pronounced mental retardation].

Overall 370 mentally retarded persons (aged 15 to 35 years) staying at the specialized institutions of the RSFSR Ministry of Social Welfare were examined. The degree of the intellectual defect, concomitant psychopathological disorders, correlations between the degree of the intellectual defect and the ability for mastering labour and social skills, the conditions of living and training of the patients were accepted as criteria for social and labour prediction. Statistically significant differences were established in the values of integrative mark estimations of patients with pronounced debility, of those with mild, medium and profound imbecility. Significant correlations were revealed between the degree of mental retardation, on the one hand, and the level of mastering labour skills and social experience, on the other one. In the patients with pronounced debility, the psychopathlike syndrome was among concomitant psychopathological disorders producing a significant effect on social and labour prognosis. The relationship was established between the magnitude of the integrative assessment of the degree of the intellectual defect and realization of potential capacities of mentally retarded persons.

Adolescent↗