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PubMed1990

Alzheimer neuropathology in non-Down's syndrome mentally retarded adults.

We examined the brains of 385 mentally retarded adults aged 23-90 years without Down's syndrome (DS), metabolic disorder, or hydrocephalus to extend our knowledge about the occurrence of Alzheimer-type neuropathology in this population. Relevant measures of neuropathology also were related to selected information available from clinical records. The presence of one or more neurofibrillary tangles (NFT) and/or neuritic plaques (NP) was observed in 63.4% of all cases and varied with age. The prevalence of positive cases was higher when mental retardation was due to head trauma, congenital malformation, or familial factors and when a history of seizures was reported. Comprehensive morphometric analyses of neocortical, hippocampal and parahippocampal areas indicated that recommended age-specific quantitative criteria for the diagnosis of Alzheimer disease [Khachaturian ZS (1985) Arch Neurol 42:1097-1105] were met in 9.5% of cases less than 50 years of age, 54.2% between 50 and 65, 70% between 66 and 75, and 87% of the cases greater than 75 years of age. However, a limited immunohistochemical study revealed that in most cases the NP did not have a neuritic component containing paired helical filaments and in this respect most of the plaques observed in this population may differ from those most strongly associated with Alzheimer disease. In addition, substantial numbers of NFT were seen in frontal cortex, contrasting with results reported in the literature for nonretarded populations. The number of NP per mm2 consistently increased with age for all areas examined, while the relationship between NFT density and age varied across areas, and was clearly not monotonic.(ABSTRACT TRUNCATED AT 250 WORDS)

Adult↗
PubMed1987

Acquisition and extension of syntactic repertoires by severely mentally retarded youth.

This study investigated the conditions that contribute to generalized language learning in severely mentally retarded children. Matrix-training strategies were used to teach three mentally retarded children syntactic rules for combining known words into two- and three-word utterances. The children applied these rules subsequently to learn unknown words. Generalized learning of responses not taught directly was shown to be under experimental control using a multiple baseline design across submatrices. Training only a limited number of responses was sufficient to promote recombinative generalization in the trained modality and transfer to untrained responses in the opposite modality. Teaching receptive and expressive language responses while simultaneously promoting untrained responding through matrix training provides an economical and efficient training approach for mentally retarded individuals.

Adolescent↗
PubMed1995

The detection of subtelomeric chromosomal rearrangements in idiopathic mental retardation.

A major challenge for human genetics is to identify new causes of mental retardation, which, although present in about 3% of individuals, is unexplained in more than half of all cases. We have developed a strategy to screen for the abnormal inheritance of subtelomeric DNA polymorphisms in individuals with mental retardation and have detected three abnormalities in 99 patients with normal routine karyotypes. Pulsed-field gel electrophoresis and reverse chromosome painting showed that one case arose from an interstitial or terminal deletion and two from the de novo inheritance of derivative translocation chromosomes. At least 6% of unexplained mental retardation is accounted for by these relatively small chromosomal abnormalities, which will be an important resource in the characterization of the genetic basis of neurodevelopment.

Adult↗
PubMed1990

Acquisition and maintenance of exercise skills under normalized conditions by adults with moderate and severe mental retardation.

Three older adults with severe and moderate mental retardation were taught a complete regimen of aerobic-type exercises under conditions that approximated mainstream exercise programs. A treatment package (prompts, contingent praise, and delayed reinforcing activities) was implemented by individual coaches while participants followed the instructions of an exercise leader. Prompts were faded and contingent activities were discontinued following skill acquisition. All participants correctly performed between 63% and 85% of the exercise repetitions during training and between 82% and 95% at a 9-month follow-up. Issues and strategies for achieving integration of persons with mental retardation into mainstream leisure activities were discussed.

Adult↗
PubMed1987

Reward value of prosodic features of language for autistic, mentally retarded, and normal children.

The present study pursued hypotheses relevant to prosodic abnormalities in the expressive language of autistic children. An operant paradigm was employed to measure the intrinsic reinforcing value of a verbally presented story for autistic, mentally retarded, and normal groups controlling for chronological age and performance mental age. Results suggested that both autistic and mentally retarded children could perceive prosodic cues, although only mentally retarded children are able to use them in their expressive language. It was also suggested that linguistic stimuli may have less intrinsic reinforcement value for autistic and mentally retarded children than for normal children. Implications for future research and treatment were discussed.

Autistic Disorder↗
PubMed2003

Nonsyndromic mental retardation and cryptogenic epilepsy in women with doublecortin gene mutations.

DCX mutations cause mental retardation in male subjects with lissencephalypachygyria and in female subjects with subcortical band heterotopia (SBH). We observed four families in which carrier women had normal brain magnetic resonance imaging (MRI) and mild mental retardation, with or without epilepsy. Affected male subjects had SBH or pachygyria-SBH. In two families, the phenotype was mild in both genders. In the first family, we found a tyr138his mutation that is predicted to result in abnormal folding in the small hinge region. In the second family, we found an arg178cys mutation at the initial portion of R2, in the putative beta-sheet structure. Carrier female subjects with normal MRI showed no somatic mosaicism or altered X-inactivation in lymphocytes, suggesting a correlation between mild mutations and phenotypes. In the two other families, with severely affected boys, we found arg76ser and arg56gly mutations within the R1 region that are predicted to affect DCX folding, severely modifying its activity. Both carrier mothers showed skewed X-inactivation, possibly explaining their mild phenotypes. Missense DCX mutations may manifest as non-syndromic mental retardation with cryptogenic epilepsy in female subjects and SBH in boys. Mutation analysis in mothers of affected children is mandatory, even when brain MRI is normal.

Adolescent↗
PubMed2004

[Clinical aspects of childhood autism with endogenous manifesting psychosis and mental retardation].

Sixty-eight patients with childhood autism manifesting with psychoses of different psychopathological structure at the age up to 3 years have been observed. Four psychotic types--catatonic-regressive (19%), polymorphic-regressive (25%), catatonic with mental retardation during psychosis (32%), polymorphic with retardation of mental development during psychosis (24%)--are described. Correlations between a structure of deficit state and these psychoses were determined: 1) development of severe autistic state with pronounced mental development retardation and a lack of speech in the most cases of catatonic-regressive psychoses; 2) autistic state of moderate severity with mental development retardation of different severity and phrase speech formation in a les than half of the patients in polymorphic-regressive psychosis; 3) development of autistic state of moderate severity with mild mental development retardation and phrase speech formation in the majority of the cases in catatonic psychosis; (4) formation of moderately pronounced autistic state in the absence of mental development retardation or its mild degree and phrase speech acquirement after polymorphic psychosis.

Autistic Disorder↗
PubMed1992

Assessing the loneliness of workers with mental retardation.

This study was designed to determine whether a reliable instrument could be developed to measure the loneliness experienced by workers with mental retardation. In addition, supervisors were asked to rate subjects on loneliness and four other behavioral subtypes in order to determine whether there was a relation between these ratings and the loneliness questionnaire. Three groups of subjects were assessed: persons with mild, moderate, and severe mental retardation. Results indicated that the Worker Loneliness Questionnaire was a reliable instrument for use with persons with mild and moderate mental retardation. In addition, the results showed that some individuals were lonely; however, this was not a pervasive feeling. The implications for measuring the self-perceptions of individuals with mental retardation were discussed.

Adult↗
PubMed1984

Low prevalence of hepatitis B infections among residents of an institution for the mentally retarded in New Mexico.

Residential institutions for the mentally retarded are considered high-risk settings for hepatitis B (HB) infection. Accordingly, HB vaccine is recommended for susceptible clients and selected staff of such facilities. However, a serologic screening program among 364 residents of Los Lunas Hospital and Training School (LLHTS) in New Mexico found only 11 residents to be anti-HBc positive (3%) and only one of these residents was also HBsAg-positive (0.3%). The unexpectedly low prevalence of HB infections at LLHTS probably reflects infrequent HB introductions into the institution. Using these serologic data, a vaccination program was instituted to prevent HB infection among LLHTS residents, thereby eliminating the need for mass screening and HB vaccination of LLHTS employees. Serologic screening among residents of other smaller institutions for the mentally retarded is recommended before design of HB prevention programs for clients and staff.

Hepatitis B↗
PubMed1997

Dyskinesias subside off all medication in a boy with autistic disorder and severe mental retardation.

A boy with autistic disorder and severe mental retardation developed severe dyskinesias, including objective akathisia (probable) and tics, a month after discontinuation of at least two years of treatment with drugs block dopamine receptors. These dyskinesias greatly subsided during a 17-wk. open-label nonblind clinical trial of clomipramine, and returned transiently when the parents abruptly discontinued clomipramine. However, the dyskinesias gradually subsided during two and a half years of follow-up with the boy being off all medication. A few stereotypies remain. We believe this suggests the hypothesis that movement disorders, such as withdrawal and tardive akathisia and tics, occurring in boys with autistic disorder treated with dopamine receptor-blocking drugs may subside months or years after discontinuation of the agents and that clomipramine may facilitate this process. We also hypothesize that some boys with autistic disorder and mental retardation exhibit fewer movement disorders, fewer psychiatric symptoms, and better over-all functioning after they have received no dopamine receptor-blocking drugs for several months, and this improvement continues years after the medication has ceased.

Akathisia, Drug-Induced↗
PubMedDate not supplied

Behavior disorders in persons with mental retardation receiving antipsychotic medication.

The behavior disorders of mentally retarded individuals receiving antipsychotic medication and the relationship between behavior disorders and the daily dose of drug were investigated. Of 355 residents of residential facilities in Wakayama Prefecture, Japan (age range, 7-64 years), the problem behaviors of 54 subjects receiving antipsychotic drugs were compared to those of 52 subjects receiving anticonvulsants and of 202 subjects without any medication at all, using the Japanese version of the Aberrant Behavior Checklist (ABC-J). All five subscale scores of the ABC-J were significantly higher for the antipsychotic group than for those of the other groups, whereas only the Irritability subscale was prominent in the subjects receiving anticonvulsants. The mean chlorpromazine equivalent dose was higher in the subjects with severe/profound disability than in those with mild/moderate disability and correlated with the Hyperactivity subscale scores. The problem behaviors of individuals with mental retardation prescribed antipsychotic drugs were more severe than those without medication; more severe disability and higher Hyperactivity scores were associated with dose of antipsychotic drugs.

Adolescent↗
PubMedDate not supplied

Oral health profile in an institutionalized population of Italian adults with mental retardation.

The oral health of 219 residents with mental retardation living in a long-term-care institution near Milan was assessed. The dental and periodontal status, daily habits, oral hygiene, and oral mucosal status were evaluated. Of the sample, 179 (81.7%) were males. The mean age of the residents was 61.3 years, and the degree of cooperation was evaluated as good for 131 subjects (59.8%), fair for 79 (36.1%), and poor for nine (4.1%). The percentage of residents who were edentulous was 21.5% (47 subjects), of whom 28 subjects (59.6%) were without dentures. Evaluation showed an overall DMFT of 23.1, and the average number of missing teeth was 20.5. All subjects had periodontal disease: Forty-five subjects had calculus and/or shallow pockets (4-5 mm); 61 had deep pockets (> or = 6 mm). The most common mucosal lesion was oral stomatitis (49.3%). These findings underline the need for special programs aimed at institutionalized subjects with mental retardation.

Adult↗
PubMed2004

Mutations in the JARID1C gene, which is involved in transcriptional regulation and chromatin remodeling, cause X-linked mental retardation.

In families with nonsyndromic X-linked mental retardation (NS-XLMR), >30% of mutations seem to cluster on proximal Xp and in the pericentric region. In a systematic screen of brain-expressed genes from this region in 210 families with XLMR, we identified seven different mutations in JARID1C, including one frameshift mutation and two nonsense mutations that introduce premature stop codons, as well as four missense mutations that alter evolutionarily conserved amino acids. In two of these families, expression studies revealed the almost complete absence of the mutated JARID1C transcript, suggesting that the phenotype in these families results from functional loss of the JARID1C protein. JARID1C (Jumonji AT-rich interactive domain 1C), formerly known as "SMCX," is highly similar to the Y-chromosomal gene JARID1D/SMCY, which encodes the H-Y antigen. The JARID1C protein belongs to the highly conserved ARID protein family. It contains several DNA-binding motifs that link it to transcriptional regulation and chromatin remodeling, processes that are defective in various other forms of mental retardation. Our results suggest that JARID1C mutations are a relatively common cause of XLMR and that this gene might play an important role in human brain function.

Adult↗
PubMed1987

Styles of coping with handicap in mentally retarded adults.

Based on a conceptual analysis how mentally retarded adults experience their intellectual impairment four different styles of coping with the handicap were postulated. They could be demonstrated empirically from data of a standardized interview. The groups with different styles of coping also show difference in personality traits, in their social history, the level of independence in daily living and in psychosomatic complaints. The variables "norm orientation", "stigmatization" and "attention getting behavior" were used in a prediction analysis to characterize the coping styles in the following way: (1) the positive-passive style is characterized by high norm orientation with little tendency to get attention, (2) the negative-passive style only by a high tendency to get attention, (3) the assertive style by low norm orientation together with high stigmatization and a low tendency to get attention, (4) the defensive style by low stigmatization and a low tendency to get attention. In addition to behavior-oriented intervention in rehabilitation those cognitive processes should be considered, which contribute to the development of a mentally retarded person's coping style.

Activities of Daily Living↗
PubMed1990

Psychopathology in institutionalised mentally retarded adults.

The clients in an institution for the mentally retarded were screened for signs of psychopathology with the Psychopathology Instrument for Mentally Retarded Adults (PIMRA). Of the 168 clients, 146 satisfied criteria for DSM-III axis I disorders, and 153 satisfied criteria for at least one disorder on either axis I or II. Multiple diagnoses were common, and a total of 288 diagnoses were found. No particular disorder was found to be more prevalent in those with organic brain dysfunction. The level of functioning was not found to predispose to any particular diagnosis. There was a positive relationship between the presence of a psychiatric disorder and the resources available to the clients and the activities offered. The prevalence of psychiatric disorders was extremely high in the population studied, with the exception of the affective disorders, of which no case was found. One possible reason for this high prevalence is that deinstitutionalisation leaves behind those with the more severe behavioural problems.

Adolescent↗
PubMed1993

Prefrontal neocortical disturbances in mental retardation.

Morphometrical analysis of the frontal lobe neocortex of seven selected cases of mental retardation of unclassified aetiology and pathology, showing mild dysplastic changes of the neocortex on routine workup, were compared with nine normal controls and seven cases with Down's syndrome. In comparison with the normal controls, the group with 'unclassified' mental retardation showed an increased percentage of disoriented pyramidal neurons in layers III and IV-V (8-17%, P < 0.01), an abnormal distribution of small pyramidal cells with a shift from superficial to deeper layers of the prefrontal cortex (P < 0.01), and an increased cortical thickness (+38%, P < 0.05) of Brodmann area 10, as well as a tendency to a decreased gyration of the frontal lobe sulci (-14%, P = 0.18). However, no statistically significant macroscopical differences either in frontal lobe gyration or in the size of the cerebrum and its frontal lobes were found between these two groups. On the other hand, the Down's syndrome group had a significantly decreased gyration (-36%, P < 0.01). These findings may indicate an inhibited and disordered migration of putative small pyramidal neurons in cases of 'unclassified' mental retardation.

Adult↗
PubMed1994

Emergence of visual-graphic symbol combinations by youth with moderate or severe mental retardation.

Research and practice on augmentative communication for persons with moderate or severe mental retardation have primarily targeted the acquisition and use of single symbols. Symbol combinations, however, provide insight into how augmented communicators use individual symbols to build more complex communications. In Study 1, untaught symbol combinations produced during natural communication interactions by 7 subjects with mental retardation were examined for their semantic, ordering, and generalization patterns. The symbol combinations largely resembled those produced by young speaking language learners, suggesting that the augmented communicators were following typical patterns of communication in generating their symbol combinations. In Study 2, we examined the symbol combinations modeled for subjects by their partners. The structure of the modeled combinations did not resemble the children's productions, indicating that the children could not have relied on simple rote imitation for their combination production. These results suggest that augmented communicators with mental retardation may use their symbols as speaking children use oral words in the development of complex communications.

Adolescent↗