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PubMed1997

Regional localization of two genes for nonspecific X-linked mental retardation to Xp22.3-p22.2 (MRX49) and Xp11.3-p11.21 (MRX50).

Two families with nonspecific X-linked mental retardation (XLMR) are presented. In the first family, MRX49, 5 male patients in 2 generations showed mild to moderate mental retardation. Two-point linkage analysis with 28 polymorphic markers, dispersed over the X-chromosome, yielded a maximal LOD score of 2.107 with markers DXS7107 and DXS8051 at theta = 0.0, localizing the MRX49 gene at Xp22.3-p22.2, between Xpter and marker DXS8022. Multipoint linkage analysis showed negative LOD values over all other regions of the chromosome. In the second family, MRX50, 4 males in 2 generations showed moderate mental retardation. Pairwise linkage analysis with 28 polymorphic markers yielded a LOD score of 2.056 with markers DXS8054, DXS1055, and DXS1204, all at theta = 0.0. Flanking markers were DXS8012 and DXS991, situating the MRX50 gene at Xp11.3-Xp11.21, in the pericentromeric part of the short arm of the X chromosome.

Adolescent↗
PubMed1979

Effects of age on communication skill levels and prevalence of maladaptive behaviors in autistic and mentally retarded children.

This study investigated the effect of age on communication and maladaptive behavior in autistic and mentally retarded children. Forty-seven autistic and 128 mentally retarded children in a special school served as subjects. The cross-sectional method was used to compare junior and senior groups, and ratings on communication skills and maladaptive behaviors were obtained from teachers. We found that the skills of comprehension and conversation in autistic children improved significantly with age, and speech improved somewhat. In spite of this improvement in communication skills, maladaptive behaviors in the autistic children other than hyperactivity did not change significantly with age. Withdrawal improved significantly with age in the mentally retarded children but not in the autistic children.

Adolescent↗
PubMed2005

Measuring interpersonal problems in people with mental retardation.

Despite interpersonal problems being commonplace in the clinical presentations of people with mental retardation, previous efforts to index interpersonal difficulties have tended to unsatisfactorily rely on external ratings. The Inventory of Interpersonal Problems-32 is a psychometrically robust self-report measure of interpersonal problems in adult populations. We found that this instrument retained many of its psychometric properties when used with a sample of 255 respondents with mild mental retardation. Results indicate four usable subscales alongside the full-scale when employed with this population. The subscales produced generally satisfactory internal and test-retest reliabilities and sound concurrent and internal-external criterion-related validities. Results are discussed with reference to further development of the measure in relation to people with mental retardation.

Adolescent↗
PubMed1990

Medicaid-financed residential care for persons with mental retardation.

Two sources of Medicaid support for persons with mental retardation and related conditions (MR/RC) are examined, the intermediate care facility for the mentally retarded (ICF/MR) program and the home and community-based services (HCBS) waiver. Results indicate that Medicaid support through the ICF/MR program has shown little recent growth in terms of number of persons served, although expenditures continue to increase. Medicaid's HCBS waiver is being used increasingly by States to support residential placement because of its greater flexibility and more individualized approach relative to ICF/MR care. Use of Medicaid to finance care for persons with MR/RC varies considerably across States.

Community Mental Health Services↗
PubMed1992

Evaluation of the child with idiopathic mental retardation.

A review of the advances in diagnostic techniques for evaluation of children with idiopathic mental retardation is presented. The current status of the use of clinical genetics, cytogenetics, molecular genetics, and neuroimaging in evaluating children with mental retardation is emphasized. Special attention is given to the evaluation of children with mental retardation and "autism" or "cerebral palsy."

Abnormalities, Multiple↗
PubMed2006

Fragile x mental retardation (Fmr-1) gene expression is down regulated in brain of mice during aging.

Fragile x syndrome (FXS) is the most common form of inherited mental retardation disease. This is caused due to expansion of CGG triplet in 5'-untranslated region of fragile x mental retardation 1 (FMR-1) gene. In most of the cases, abnormally large size of the CGG repeat (>200) undergoes hypermethylation, which in turn silences the FMR-1 gene causing thereby complete lack of its protein product called fragile x mental retardation protein (FMRP). Lack of FMRP due to gene silencing or production of faulty protein due to point mutation in KH2 domain of FMRP alters the translational process in neurons and leads to expression of mental retardation phenotype on the patients. The FMRP is expressed ubiquitously in all tissues; however, it is predominantly expressed in neurons and testis. It possesses heterogeneity and is found in many isoforms due to alternative splicing of the FMR-1 transcript. Based on our data from the Western-, slot-, Northern blotting and immunohistochemical studies, we report here the down regulation of Fmr-1 gene and FMRP in mice brain in age-dependent manner. The present finding is important in respect to FMRP-dependent various brain functions i.e., learning, memory, cognition etc. that decrease with advancing age.

Aging↗
PubMedDate not supplied

The use of risperidone among individuals with mental retardation: clinically supported or not?

Since their introduction, antipsychotic medications have been used widely to treat conditions other than psychiatric disorders, especially among individuals with mental retardation. Researchers have shown that the prevalence rates of psychotropic medication prescriptions among this population are extremely high. Given the limited empirical data to support the use of psychotropic medications, specifically antipsychotics, among individuals with mental retardation, this trend is a cause for concern. This review was undertaken in an effort to summarize the available studies regarding the use of the atypical antipsychotic drug risperidone among individuals with mental retardation and provide a resource for clinicians, care givers, and parents. Based on the results of this review, the effectiveness of risperidone in targeting psychopathology and challenging behaviors for individuals with mental retardation is questionable at present.

Adult↗
PubMed1985

Electrical blink reflex habituation in mentally retarded adults.

Electrophysiological methods of studying the habituation of the blink reflex have been used, to document by objective means the lack of habituation of the blink reflex in mentally retarded adults. Habituation of the blink reflex to sets of stimuli with decreasing interstimulus duration, which is fixed in each set of stimuli, has been studied in normal human volunteers and mentally retarded subjects. Habituation of direct and indirect R2 has been poor or absent in the mentally retarded subjects. The habituation indices of mentally retarded subjects do not overlap the habituation indices of the normal volunteers. In significant numbers of retarded subjects no habituation of the indirect R2 (P less than 0.00001) and of direct R2 (P less than 0.0005) was noted. No significant difference in habituation of the direct R2 and indirect R2 is noted in normal volunteers.

Adult↗
PubMed2005

Rho proteins, mental retardation and the neurobiological basis of intelligence.

For several decades it has been known that mental retardation is associated with abnormalities in dendrites and dendritic spines. The recent cloning of eight genes which cause nonspecific mental retardation when mutated, provides an important insight into the cellular mechanisms that result in the dendritic abnormalities underlying mental retardation. Three of the encoded proteins, oligophrenin1, PAK3 and alphaPix, interact directly with Rho GTPases. Rho GTPases are key signaling proteins which integrate extracellular and intracellular signals to orchestrate coordinated changes in the actin cytoskeleton, essential for directed neurite outgrowth and the generation/rearrangement of synaptic connectivity. Although many details of the cell biology of Rho signaling in the CNS are as yet unclear, a picture is unfolding showing how mutations that cause abnormal Rho signaling result in abnormal neuronal connectivity which gives rise to deficient cognitive functioning in humans.

Acute-Phase Proteins↗
PubMed1995

[Particular aspects of psychiatric management of mentally retarded patients with psychiatric disorders].

Relevant specific problems of psychiatric disorders in mentally retarded individuals are described and discussed on the basis of selected literature. Mentally retarded individuals with mental problems differ significantly from their normal intelligent counterparts with respect to biological, social and psychological aspects. The improvement of the psychiatric-psychotherapeutic care seems to be necessary.

Combined Modality Therapy↗
PubMed1991

Factor structure of maladaptive behavior across the lifespan of persons with mental retardation.

Data obtained on a sample of persons with mild to profound degrees of mental retardation (N = 8255) and ranging from birth to 98 years of age were factor analyzed to provide information on the structure of maladaptive behavior relative to age and degree of mental retardation. Using the Problem Behavior scales of the Inventory for Client and Agency Planning, two principal factors emerged for children with mild to profound degrees of retardation: Internalized Maladaptive and Externalized Maladaptive. For adolescents and young adults, a three-factor solution which varied by degree of retardation was most appropriate. For middle and older adults, three- and four-factor solutions were identified across all ages and degrees of retardation. Across all samples as many as six different types of dimensions were identified, indicating that the structure of maladaptive behavior may well be influenced by age and level of mental retardation.

Activities of Daily Living↗
PubMed2000

Familial mental retardation syndrome ATR-16 due to an inherited cryptic subtelomeric translocation, t(3;16)(q29;p13.3).

In the search for genetic causes of mental retardation, we have studied a five-generation family that includes 10 individuals in generations IV and V who are affected with mild-to-moderate mental retardation and mild, nonspecific dysmorphic features. The disease is inherited in a seemingly autosomal dominant fashion with reduced penetrance. The pedigree is unusual because of (1) its size and (2) the fact that individuals with the disease appear only in the last two generations, which is suggestive of anticipation. Standard clinical and laboratory screening protocols and extended cytogenetic analysis, including the use of high-resolution karyotyping and multiplex FISH (M-FISH), could not reveal the cause of the mental retardation. Therefore, a whole-genome scan was performed, by linkage analysis, with microsatellite markers. The phenotype was linked to chromosome 16p13.3, and, unexpectedly, a deletion of a part of 16pter was demonstrated in patients, similar to the deletion observed in patients with ATR-16 syndrome. Subsequent FISH analysis demonstrated that patients inherited a duplication of terminal 3q in addition to the deletion of 16p. FISH analysis of obligate carriers revealed that a balanced translocation between the terminal parts of 16p and 3q segregated in this family. This case reinforces the role of cryptic (cytogenetically invisible) subtelomeric translocations in mental retardation, which is estimated by others to be implicated in 5%-10% of cases.

Abnormalities, Multiple↗
PubMed1981

[X-linked mental retardation and X-chromosome fragile sites (author's transl)].

One of the commonest forms of mental retardation can now be especially diagnosed by differentiated chromosome analysis: X-linked heritable mental retardation with a fragile site on the X-chromosome. The fragile site on the distal long arm of the X-chromosome in region 2, band 7 (Xq27) is not apparent under normal circumstances of culture but must be provoked by folic acid deficiency in the culture medium. The marker X-chromosome is demonstratable in 4-56% of the metaphases in affected males, whereas the recognition of heterozygote gene carriers is still uncertain. In the hemizygotes the defect is characterised clinically by a usually moderately severe intellectual retardation. The character of the carriers is friendly, and well balanced. Speech development is greatly retarded. Testicular volume beyond puberty is increased. Heterozygote females are usually clinically unremarkable. At times a slight mental retardation has been described.

Culture Media↗
PubMed2003

Psychometric properties of the Beck Depression Inventory and the Zung Self Rating Depression Scale in adults with mental retardation.

The psychometric properties of the Beck Depression Inventory and the Zung Self Rating Depression Scale were examined. Both tests were administered to 120 adults with mental retardation. Results were analyzed, correlated, and examined with principle component analysis. Findings suggest that the tests have good clinical utility with these persons and that depression may be more severe in people with mental retardation. Characteristics that can be employed in building other behavioral measures of depression for persons with mental retardation were also identified. Results show that there may be a tendency for persons with mental retardation to minimize distress report, further complicating the depression diagnostic process for these persons.

Adult↗
PubMed1980

Nocturnal sleep in severely mentally retarded children: abnormal EEG patterns in sleep cycle.

Sleep EEG patterns in 43 mentally retarded children (from 4 months to 80 years of age) were studied throughout nocturnal sleep and the following results were obtained. (1) Twenty-two cases evidenced normal sleep patterns that could be classified into 6 stages. (2) The 21 other cases showed some abnormal sleep EEG patterns as follows: (a) absence of sleep spindles (n = 18) which included cases of high voltage fast activity (n = 2) and cases of low voltage activity throughout nocturnal sleep (n = 3); (b) indistinguishable delta and theta activities (n = 1), extreme spindle-like pattern (n = 1), absence of REM sleep (n = 1). (3) The severely mentally retarded children under 18 months had definitely decreased spindle activity in comparison to the values obtained by other authors from normal children. (4) The majority of the abnormal sleep EEG patterns occurred during light sleep. (5) A significant decrease in DQ was found in children with abnormal sleep patterns throughout NREM sleep as compared with those in whom abnormal EEGs occurred only during stages 1 and 2. (6) It was concluded that the EEG recorded in nocturnal sleep may serve as a useful indicator of abnormality in mentally retarded children.

Cerebral Cortex↗
PubMed1987

X-linked mental retardation with marfanoid habitus.

Here we report on two pairs of mildly to moderately mentally retarded brothers with marfanoid habitus and similar craniofacial changes. They had a long and narrow face, small mandible, high-arched palate, and hypernasal voice, as previously reported by Lujan et al (Am J Med Genet 17:311-322, 1984) in four mentally retarded males of a large kindred. The present data suggest the existence of a specific type of X-linked mental retardation with marfanoid habitus.

Adolescent↗
PubMed2001

Corneal grafting for keratoconus in mentally retarded patients.

PURPOSE: To compare the results of penetrating and non-penetrating corneal grafting procedures in mentally retarded keratoconus patients. METHODS: In the years 1974-2000 41 mentally retarded patients with keratoconus (33 with Down syndrome) were operated with corneal grafting. Mean age at operation was 36.7+/-10.8 years. Three different surgical procedures were used (no randomization): penetrating keratoplasty (n=16), lamellar keratoplasty (n=5) and epikeratophakia (n=20). In a retrospective study, the non-penetrating procedures (lamellar keratoplasty and epikeratophakia) were compared to the penetrating keratoplasties with regard to graft survival and frequency of serious complications. Mean follow-up time of all grafting procedures was 80+/-58 months. RESULTS: All cases of serious complications (irreversible rejection, wound leakage or perforation) occurred in the penetrating keratoplasty group (p=0.0005). Older age at operation (p=0.011) adversely influenced the frequency of serious complications. Overall five-year survival was 74.9%. Graft survival was not related to surgical procedure, but rather to age at operation (poorer survival in older age, p=0.012) and degree of retardation (poorer survival in patients with more severe retardation, p=0.051). CONCLUSIONS: Because of the safety and low frequency of complications, epikeratophakia is recommended as the grafting procedure of choice in the majority of mentally retarded with keratoconus. In selected cases (good cooperation, age < or =40 years, and a good peripheral corneal thickness) penetrating keratoplasty may be performed, which, if uncomplicated, often will give better functional/optical results.

Adolescent↗
PubMed2000

Hereditary cerebellar ataxia with peripheral neuropathy and mental retardation.

We present here 5 patients with hereditary cerebellar ataxia with peripheral neuropathy and mental retardation as determined by clinical, pathological, and molecular studies. The most characteristic features of this disorder, in contrast to Friedreich's ataxia, were early onset of ataxic gait, mental retardation, and a marked atrophy of the cerebellum. Sural nerve biopsy showed a reduction of myelinated fibers. The expansion of a GAA triplet repeat within the first intron of the frataxin gene, which causes Friedreich's ataxia, was not identified in any of the patients. Hereditary cerebellar ataxia with peripheral neuropathy and mental retardation represents a specific clinical entity that so far has only been described in Japan.

Adolescent↗