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PubMed2002

Prevalence of physical inactivity and recommended physical activity in community-based adults with mental retardation.

Little information has been reported on the leisure time physical activity (LTPA) habits of adults with mental retardation. Prevalence of physical inactivity and recommended LTPA of adults with mild to moderate mental retardation who live in community settings was described. Adults with mental retardation (76 men, 74 women) reported their physical activity habits. Overall, men and women who resided in community settings were similarly inactive, with 47% to 51% of individuals participating in little to no LTPA. Forty-two to 47% of them reported participation in moderate to vigorous LTPA five or more times per week. Limitations to quantifying physical activity through questionnaire process is discussed and development and implementation of programs designed to increase physical activity levels recommended.

Activities of Daily Living↗
PubMed2001

Evidence that fragile X mental retardation protein is a negative regulator of translation.

Fragile X syndrome is a common form of inherited mental retardation. Most fragile X patients exhibit mutations in the fragile X mental retardation gene 1 (FMR1) that lead to transcriptional silencing and hence to the absence of the fragile X mental retardation protein (FMRP). Since FMRP is an RNA-binding protein which associates with polyribosomes, it had been proposed to function as a regulator of gene expression at the post-transcriptional level. In the present study, we show that FMRP strongly inhibits translation of various mRNAs at nanomolar concentrations in both rabbit reticulocyte lysate and microinjected Xenopus laevis oocytes. This effect is specific for FMRP, since other proteins with similar RNA-binding domains, including the autosomal homologues of FMRP, FXR1 and FXR2, failed to suppress translation in the same concentration range. Strikingly, a disease-causing Ile-->Asn substitution at amino acid position 304 (I304N) renders FMRP incapable of interfering with translation in both test systems. Initial studies addressing the underlying mechanism of inhibition suggest that FMRP inhibits the assembly of 80S ribosomes on the target mRNAs. The failure of FMRP I304N to suppress translation is not due to its reduced affinity for mRNA or its interacting proteins FXR1 and FXR2. Instead, the I304N point mutation severely impairs homo-oligomerization of FMRP. Our data support the notion that inhibition of translation may be a function of FMRP in vivo. We further suggest that the failure of FMRP to oligomerize, caused by the I304N mutation, may contribute to the pathophysiological events leading to fragile X syndrome.

Animals↗
PubMed2002

Increased rates of cerebral glucose metabolism in a mouse model of fragile X mental retardation.

In humans, failure to express the fragile X mental retardation protein (FMRP) gives rise to fragile X syndrome, the most common form of inherited mental retardation. A fragile X knockout (fmr1 KO) mouse has been described that has some of the characteristics of patients with fragile X syndrome, including immature dendritic spines and subtle behavioral deficits. In our behavioral studies, fmr1 KO mice exhibited hyperactivity and a higher rate of entrance into the center of an open field compared with controls, suggesting decreased levels of anxiety. Our finding of impaired performance of fmr1 KO mice on a passive avoidance task is suggestive of a deficit in learning and memory. In an effort to understand what brain regions are involved in the behavioral abnormalities, we applied the [(14)C]deoxyglucose method for the determination of cerebral metabolic rates for glucose (CMR(glc)). We measured CMR(glc) in 38 regions in adult male fmr1 KO and WT littermates. We found CMR(glc) was higher in all 38 regions in fmr1 KO mice, and in 26 of the regions, differences were statistically significant. Differences in CMR(glc) ranged from 12% to 46%, and the greatest differences occurred in regions of the limbic system and primary sensory and posterior parietal cortical areas. Regions most affected are consistent with behavioral deficiencies and regions in which FMRP expression is highest. Higher CMR(glc) in fragile X mice may be a function of abnormalities found in dendritic spines.

Animals↗
PubMed2002

Mental retardation and memory for spatial locations.

Although memory for spatial location has been frequently investigated with mentally retarded populations, it is not clear that these individuals possess the same spatial memory skills as do their peers without mental retardation. We compared 30 persons with and 30 persons without mental retardation. Following either intentional or incidental learning, participants recalled and then relocated 16 objects on a matrix. The control group recalled more intentionally learned than incidentally learned material. The experimental group performed both tasks better after incidental learning than after intentional learning and scored as highly as the controls on incidental spatial memory. Results suggest that memory for spatial location is an automatic process and, to some extent at least, is not directly affected by the individual's level of intelligence.

Humans↗
PubMed2003

No association of a dodecamer duplication in the human opposite paired (HOPA) gene with mental retardation and schizophrenia in Chinese patients from Taiwan.

The human opposite paired-containing (HOPA) gene is believed to be a co-activator of the thyroid hormone receptor and involved in thyroid hormone signal transduction. The gene consists of 45 exons and includes a dodecamer duplication in exon 43, which has been reported to be associated with mental retardation, autism, psychiatric disorders and hypothyroidism. We were interested to know if the 12-bp duplication variant of the HOPA gene is a risk factor for mental retardation and schizophrenia in the Chinese population. We investigated the prevalence of the 12-bp variant in a sample of Chinese mental retardation and schizophrenic patients from Taiwan by PCR-based genotyping. None of the mentally retarded and schizophrenic patients were found to have this dodecamer duplication variant. Our results indicate that the HOPA polymorphism might be very rare in our population and is unlikely to be a major risk factor for mental retardation and schizophrenia in the Chinese population.

Alleles↗
PubMedDate not supplied

The effects of basketball training on the maladaptive behaviors of trainable mentally retarded children.

The effects of basketball training on the maladaptive behaviors of 19 trainable mentally retarded children attending a special state school were investigated. Children in the experimental group took 7 weeks of basketball training (Special Olympics Inc.) designed for mentally retarded children, whereas the control group children engaged in free play activities with the ball. Both groups were assessed before the training and free play activity applications (preassessment), immediately after the applications (postassessment) and 30 days after the applications (follow-up assessment). All the children were observed (Classroom Behavior Checklist developed for this study) in their classroom during the academic tasks in which they were involved. Furthermore, their mothers were interviewed to get information about manifested maladaptive behaviors at home. To assess the children's level of improvement in basketball skills, the Sports Skills Assessment was utilized. Children trained in basketball skills showed a reduction in their level of maladaptive behavior both at home and in the school. This reduction was maintained in the follow-up period. Thus, basketball training can be proposed as an effective and practical rehabilitation program for trainable mentally retarded children attending an institution.

Adolescent↗
PubMed1985

Depression and learned helplessness in mentally retarded and nonmentally retarded adolescents: an initial investigation.

Depression and learned helplessness were examined in a sample of 26 educably mentally retarded (EMR) adolescents and a matched (on age, sex, and race) group of 26 nonmentally retarded adolescents. Depression and learned helplessness were assessed using the Reynolds Adolescent Depression Scale (RADS) and Mastery Orientation Inventory (MOI), respectively. Results indicated that EMR adolescents manifested significantly (p less than .001) greater depressive symptomatology than their nonmentally retarded peers. Sex differences were also found, with females demonstrating greater depression scores in both groups. Analysis of severity of symptom endorsement showed significant group differences on items reflecting somatic, self-evaluative, and behavioral components of depression, with mentally retarded subjects demonstrating higher scores. Mentally retarded adolescents were found to score higher (p less than .001) on the learned helplessness measure than nonmentally retarded adolescents. Given the problematic nature of depression noted in large sample epidemiological studies of nonmentally retarded adolescents, the results of this investigation indicate that depression in EMR adolescents is an affective characteristic in need of further study.

Adolescent↗
PubMedDate not supplied

Psychopathology and mental retardation: an Italian epidemiological study using the PIMRA.

The incidence of psychopathology was studied in 176 adult patients with mental retardation through administration of the Psychopathology Instrument for Mentally Retarded Adults (PIMRA). Prevalence of answers relating to anxiety, tendency to live apart and body complaints in the group with mild mental retardation was documented. For people with severe intellectual impairments, mood disturbances with inconsistent behaviours was most prevalent. Implications of the findings are discussed.

Adult↗
PubMed1980

The effects of physician counseling technique on parent reactions to mental retardation diagnosis.

Many parents of mentally retarded children express dissatisfaction with how physicians initially communicate the diagnosis. We conducted a structured interview to identify and evaluate circumstances and counseling techniques which parents felt influenced their reactions to the initial diagnostic interview. Significant physician behaviors were an attitude of concern, appreciation of the handicapped child's value to the parents as a love object, planning an uninterrupted and unhurried discussion of the findings, allowing parent contact with the child before the diagnosis was told, sharing extensive information with the parents but without absolute predictions, and making specific practical recommendations. Satisfied parents were more likely to follow the physician's recommendations. The degree of dissatisfaction did not correlate with lag time before parents enrolled in an early childhood special education program. Other obstacles exist to early intervention.

Adaptation, Psychological↗
PubMed1988

Longitudinal examinations in the course of dietotherapy of mentally retarded obese in-patients.

Mentally retarded obese in-patients were fed by low-energy diet (4.2-4.6 MJ) for 9 months. During this period, an average of 13 +/- 4.5 kg loss of body mass occurred in men and 16 +/- 2.7 kg in women. Anthropometric measurements were performed before starting the dietotherapy and in the ninth month. Changes of body fat could be followed well when calculated according to BMI. Less reliable results were obtained with skinfold thickness measurements, presumably due to body deformities. Results of clinical laboratory tests, which were carried out before starting the dietotherapy and in the fourth and seventh months, suggested that a low-energy-containing diet with balanced nutrient content and adequate protein intake did not impair protein metabolism, favourably affected serum triglyceride and cholesterol levels, but resulted in an unfavourable decrease in the HDL-cholesterol content.

Adult↗
PubMed1990

Epilepsy in a population of mentally retarded children and adults.

All mentally retarded (MR) subjects in a northern Swedish county were assessed for the occurrence of active epilepsy on a prevalence day. Active epilepsy was found in 299 subjects (20.2% of those with MR) corresponding to a crude prevalence rate of 1.2/1000 inhabitants. The age-specific prevalence for 0-9 years was higher for females than for males, while in other age groups it was slightly higher for males or showed no difference between the sexes. Epilepsy and MR were the only disorders in 129 subjects (43.1%). Cerebral palsy was the most common associated disorder and occurred in 100 (33.4%). A presumable etiology for epilepsy and MR was identified in 73.2% and 71.9%, respectively. The presumable etiological factors which caused MR occurred prenatally in 35%, perinatally in 10% and postnatally in 9%. The pathogenetic period was unknown in 31%. In 15%, the etiological events occurred during more than one of the above periods. The presumable causes were responsible for both epilepsy and MR in all except 7 cases. MR individuals with epilepsy were significantly more retarded than those without epilepsy. The first seizure occurred during the neonatal period in 11.6% and before 1 year of age in 27.7%. Generalized tonic-clonic seizures were the most common type and occurred in 204 subjects (68.2%). Seventy-one of these also had partial seizure manifestations. Daily to weekly seizures occurred in 26.8% and 32.0% had been seizure-free for the past year.

Adolescent↗
PubMedDate not supplied

The psychopathological model of mental retardation: theoretical and therapeutic considerations.

Mental retardation has heterogenous elements including genetic-biological and environmental factors that occur in a complex relationship. One construction commonly utilized is the overlapping etiologies, pathogenesis, and symptomatology in a bio-psycho-social model framework. A new integrated bio-psycho-social model we call "universe line" provides the possibility of integrating data from different research areas, specially cognitive and psychopathologic indicators. However, further methodology to refine and experimentally verify that model need to be elaborated. Implications of this theoretical approach are discussed.

Cognition↗
PubMedDate not supplied

The role of the pediatric nurse practitioner in educating teens with mental retardation about sex.

Adolescents with mental retardation have sexual needs that are often overlooked, underestimated, or considered problematic by parents, teachers, or other caregivers. This article describes ways in which the pediatric nurse practitioner can help these special teens develop responsible social and sexual relationships through assessment, education, coordination of services, appropriate referrals, and regular follow-up.

Adolescent↗
PubMed1996

The neuropsychology of mental retardation.

This critical review examines mental retardation (MR) from a neuropsychological perspective. Competing definitions of MR are discussed and the prevalence is estimated. Descriptions are given of idiopathic MR and the five major identifiable prenatal causes of MR: fetal alcohol syndrome, Down's syndrome, fragile X syndrome, Prader-Willi syndrome, and Angelman syndrome. Similarities and differences among syndromes are examined. Cognitive deficits common to all disorders were in attention, short-term memory, and sequential information processing, whereas language and visuospatial abilities were varied. Neuroanatomical abnormalities common to all disorders were in the hippocampus and cerebellum; individual disorders typically showed a unique pattern of other neurological abnormalities. Both knowledge of individual MR-related disorders and comparative research between disorders are important for researchers and clinicians. Further research is called for in both areas.

Diagnosis, Differential↗
PubMed2006

Alternative splicing modulates protein arginine methyltransferase-dependent methylation of fragile X syndrome mental retardation protein.

The fragile X mental retardation protein (FMRP) is an RNA binding protein that is methylated by an endogenous methyltransferase in rabbit reticulocyte lysates. We mapped the region of methylation to the C-terminal arginine-glycine-rich residues encoded by FMR1 exon 15. We additionally demonstrated that mutation of R(544) to K reduced the endogenous methylation by more than 80%, while a comparable mutant R(546)-K reduced the endogenous methylation by 20%. These mutations had no effect on the subcellular distribution of FMRP, recapitulating previous results using the methyltransferase inhibitor adenosine-2',3'-dialdehyde. Using purified recombinant protein arginine methyltransferases (PRMTs), we showed that the C-terminal domain could be methylated by PRMT1, PRMT3, and PRMT4 in vitro and that both the R(544)-K mutant and the R(546)-K mutant were refractory toward these enzymes. We also report that truncating the N-terminal 12 residues encoded by FMR1 exon 15, which occurs naturally via alternative splicing, had no effect on FMRP methylation, demonstrating conclusively that phosphorylation of serine residue 500 (S(500)), one of the 12 residues, was not required for methylation. Nevertheless, truncating 13 additional amino acids, as occurs in the smallest alternatively spliced variant of FMR1 exon 15, reduced methylation by more than 85%. This suggests that differential expression and methylation of the FMRP exon 15 variants may be an important means of regulating target mRNA translation, which is consonant with recently demonstrated functional effects mediated by inhibiting FMRP methylation in cultured cells.

Alternative Splicing↗
PubMed1998

PAK3 mutation in nonsyndromic X-linked mental retardation.

Nonsyndromic X-linked mental retardation (MRX) syndromes are clinically homogeneous but genetically heterogeneous disorders, whose genetic bases are largely unknown. Affected individuals in a multiplex pedigree with MRX (MRX30), previously mapped to Xq22, show a point mutation in the PAK3 (p21-activated kinase) gene, which encodes a serine-threonine kinase. PAK proteins are crucial effectors linking Rho GTPases to cytoskeletal reorganization and to nuclear signalling. The mutation produces premature termination, disrupting kinase function. MRI analysis showed no gross defects in brain development. Immunofluorescence analysis showed that PAK3 protein is highly expressed in postmitotic neurons of the developing and postnatal cerebral cortex and hippocampus. Signal transduction through Rho GTPases and PAK3 may be critical for human cognitive function.

Animals↗
PubMed2004

Mutations in the FTSJ1 gene coding for a novel S-adenosylmethionine-binding protein cause nonsyndromic X-linked mental retardation.

Nonsyndromic X-linked mental retardation (NSXLMR) is a very heterogeneous condition, and most of the underlying gene defects are still unknown. Recently, we have shown that approximately 30% of these genes cluster on the proximal Xp, which prompted us to perform systematic mutation screening in brain-expressed genes from this region. Here, we report on a novel NSXLMR gene, FTSJ1, which harbors mutations in three unrelated families--one with a splicing defect, one with a nonsense mutation, and one with a deletion of one nucleotide. In two families, subsequent expression studies showed complete absence or significant reduction of mutant FTSJ1 transcripts. FTSJ1 protein is a homolog of Escherichia coli RNA methyltransferase FtsJ/RrmJ and may play a role in the regulation of translation. Further studies aim to elucidate the function of human FTSJ1 and its role during brain development.

Adult↗
PubMed1990

Bladder function in the mentally retarded.

A group of 21 mentally retarded patients with severe, long-standing urinary symptoms underwent urodynamical investigation. The most common abnormalities were detrusor areflexia and detrusor hyper-reflexia. Of 11 patients treated surgically, 10 derived marked benefit. Drugs were successful in reducing micturition problems in 3/6 patients. Severely retarded patients with spastic quadriplegia are difficult to investigate and if this is associated with detrusor hyper-reflexia it is impossible to treat them in any way. Severely retarded patients with detrusor areflexia and infrequent voiding can benefit from bladder outlet surgery. Patients with moderate (especially mild) retardation can be investigated and treated in the same way as non-retarded people.

Adolescent↗