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PubMed1984

Phonological process analysis of the speech of mentally retarded adults.

A phonological process analysis was performed on the speech of 20 mentally retarded adults. Results indicated that these subjects exhibited deletion of final consonant, cluster reduction, weak syllable deletion, and stopping. These processes are similar to those previously reported for mentally retarded children and unintelligible nonretarded children. Differences between subjects classified as moderately and severely retarded appear to be quantitative rather than in type of process exhibited.

Adult↗
PubMed1998

Congenital bilateral fibular deficiency with facial dysmorphia, brachydactyly and mental retardation in a girl.

Congenital bilateral fibular deficiency with facial dysmorphia, brachydactyly and mental retardation in which are combined in a syndrome or which do not fit in any of the known syndromes. We report a child with congenital bilateral deficiency of the fibula and an unusual combination of features. The patient, a girl, was born after an uneventful pregnancy at term to young healthy parents. Absent fibulae were noted at birth. At age 4 she was found to have growth retardation with delayed bone age, overlapping, short toes, syndactyly of the toes, clinodactyly of the 5th and 2nd fingers, syndactyly of the three last fingers and facial dysmorphia. Mental retardation was present. Karyotype and laboratory investigations were normal. Differential diagnosis included syndromes with aplasia or hypoplasia of fibula, but none of these syndromes seemed to include the girl's features.

Abnormalities, Multiple↗
PubMed2002

MEHMO (Mental retardation, Epileptic seizures, Hypogenitalism, Microcephaly, Obesity): a new X-linked mitochondrial disorder.

MEHMO (Mental retardation, Epileptic seizures, Hypogenitalism, Microcephaly and Obesity) is an X-linked disorder characterised by mental retardation, epileptic seizures, hypogenitalism, microcephaly and obesity. It was recently assigned to the locus Xp21.1-p22.13. We describe a child with MEHMO and lactic acidosis whose muscle biopsy revealed markedly reduced activities of complexes 1,3 and 4 of the mitochondrial electron transport chain. Histological staining showed mitochondrial proliferation and lipid storage. Electron microscopy revealed abnormal and enlarged mitochondria with concentric cristae and electron dense bodies. This is the first identification of MEHMO as a mitochondrial disorder and one of the very few X-linked mitochondrial syndromes.

Abnormalities, Multiple↗
PubMed1992

Carbamazepine-induced hyponatremia in patients with mental retardation.

Carbamazepine-induced hyponatremia has been reported in 21.7% of 61 patients with mental retardation who received the medication for a variety of reasons. We studied 40 patients with mental retardation receiving carbamazepine to determine the prevalence of hyponatremia. Overall, hyponatremia was found in only 5.0% of these patients. Correlations with sodium level and carbamazepine dose, serum drug level, and concomitant neuroleptic and anticonvulsant polytherapy were also examined. Treatment with carbamazepine resulted in a statistically, but not clinically, significant decrease in serum sodium levels in patients receiving anticonvulsant polytherapy. Decreases in serum sodium were not related to carbamazepine dose or blood levels. Only one patient with underlying schizophrenia and psychogenic polydipsia demonstrated clinically significant hyponatremia during carbamazepine therapy.

Carbamazepine↗
PubMed1999

Puerto Rican families caring for an adult with mental retardation: role of familism.

The role of familism (a cultural value including interdependence among nuclear and extended family members for support, loyalty, and solidarity) in caregiving was explored for Puerto Rican mothers with children with mental retardation living at home. Familism--defined here as direct caregiving provided by family members to the person with mental retardation, mothers' social support networks, and mothers' obligations to other family members--was hypothesized to account for variation in maternal well-being. Better maternal well-being was predicted by larger social support networks, greater satisfaction with social support, and more minor children living in the household. A troubling but not unexpected finding is that these mothers faced many socioeconomic challenges and were in poor health in addition to the challenges of parenting a child with mental retardation.

Acculturation↗
PubMed2004

Praxic skills in down and mentally retarded adults: evidence for multiple action routes.

Functional relationships between praxic performance and visual recognition ability of mentally retarded adults are discussed, in an attempt to integrate findings from developmental disorders of action with those described in the adult literature. Three groups of participants took part in the study: adults with Down's syndrome (D), Mentally Retarded adults (MR), and mental age-matched controls (C). Three experiments were conducted. A gesture production task (Experiment 1) aimed to test ability to demonstrate the object use under three different experimental conditions: first, participants could only see the objects; second, they were allowed to see as well as to touch the objects; and third, participants were presented with the object names. An object decision task (Experiment 2) assessed the participants' ability to access structural descriptions of objects from vision. An imitation task (Experiment 3) was administered in order to test for the presence of Ideomotor Apraxia. Our results suggest that the two pathological samples may use different processing routes to action.

Adult↗
PubMed1989

Facial expressions of affect in autistic, mentally retarded and normal children.

This study examined the facial affect expressions of autistic, mentally retarded and normal children. Affect was coded using the Maximally Discriminative Movement Coding System. Results indicated that the autistic children were more flat/neutral in their affect expression than the mentally retarded children. Moreover, they displayed a variety of ambiguous expressions not displayed by any of the other children. This unique pattern may be related to the difficulties that autistic children have in sharing affect, and to the difficulties that others experience in reading their affective signals.

Affect↗
PubMed2001

Discriminant validity of the Vineland Scales: score profiles of individuals with mental retardation and a specific disorder.

Utility of the Vineland Adaptive Behavior Scales-Expanded Form to discriminate among areas of adaptive behavior was substantiated by comparing profiles of scores obtained by three groups of individuals with mental retardation and either a communication, social behavior, or motor abilities disorder with those of matched individuals with mental retardation but no other disorder. Individuals with social behavior disorders obtained lower scores only in the Socialization domain; those with motor disorders, in the Motor domain and in the Personal and Domestic subscales that require motor competencies; and those with communication disorders, lower scores in the Communication domain and in the Community and Interpersonal Relationships subscales requiring expressive competencies. The utility of the Vineland Scales in obtaining an ecological evaluation of individuals with mental retardation is discussed.

Adult↗
PubMed1998

Health risk behaviors of African American adolescents with mild mental retardation: prevalence depends on measurement method.

Health risk behaviors (e.g., substance use, violence, suicide, and car safety) of 194 14- to 17-year-old African American urban adolescents with mild mental retardation from special education classes were measured. One group was assessed using a confidential individual interview method, and an individually matched group was assessed with an anonymous group survey method. Participants completing the anonymous survey reported engaging more frequently in risk behaviors that respondents typically consider sensitive. In comparison to national and state populations of African American adolescents, urban African American adolescents with mild mental retardation appear to be at substantial elevated risk for engaging in alcohol binge drinking and weapon and gun carrying. Findings were discussed relative to cognitive and social deficits inherent in mild mental retardation.

Adolescent↗
PubMed1996

Localization of a non-specific X-linked mental retardation gene, MRX23, to Xq23-q24.

More than 100 X-linked mental retardation syndromes have been described. We report the localization of the disease gene, MRX23, in one family to Xq23-24. Affected family members present with non-specific X-linked mental retardation with verbal disability (BDOAS 10, 1-100). MRX23 is tightly linked to the markers DXS1220 (Z = 3.76 at theta = 0.1) and DXS424 (Z = 3.9 at theta = 0.06). Multipoint linkage analysis, taking five loci (DXS1072-0.07-DXS1220-0.014-MRX23-0.01-DXS 424-0.08-DXS1001) at a time, gives a maximum LOD score of 6.7 between these two markers. The next most likely location, between DXS424 and DXS1001 is 120-fold less likely. Haplotype analysis also indicates the most likely location for the disease gene is between DXS1220 and DXS424.

Chromosome Mapping↗
PubMedDate not supplied

Assessment of depression in mentally retarded adults: reliability and validity of the Children's Depression Inventory (CDI).

The applicability of the Children's Depression Inventory (CDI) in the informant-rating version to mentally retarded adults (> 19 years of age) of all degrees of severity is researched here for the first time. The sample (N = 798) consisted of residents in community-based group homes (56.9%) and residents of a variety of institutions (43.1%). On average, 23 of the 24 CDI items were to be assessed. Internal consistency, interrater reliability, and the item-total score correlations were adequate. The three factors derived from factor analysis were open to clear interpretation. The CDI score proved to be independent of age, sex, and degree of mental retardation. Persons with behavior problems, psychotropic drug treatment, non-Down syndrome status, as well as the residents of a psychiatric clinic, all returned a higher CDI score. Among those having a CDI score > or = 17 (n = 54), there were 57% with DSM-III-R depressive disorders. These results suggest that the CDI in an informant-rating version is suitable as a diagnostic and screening instrument for mentally retarded adults.

Adult↗
PubMed2002

Spastic paraplegia, ataxia, mental retardation (SPAR): a novel genetic disorder.

OBJECTIVE: To describe a kindred with a dominantly inherited neurologic disorder manifested either as uncomplicated spastic paraplegia or ataxia, spastic paraplegia, and mental retardation. METHODS: Neurologic examinations and molecular genetic analysis (exclusion of known SCA and HSP genes and loci; and trinucleotide repeat expansion detection [RED]) were performed in six affected and four unaffected subjects in this family. MRI, electromyography (EMG), and nerve conduction studies were performed in three affected subjects. RESULTS: The phenotype of this dominantly inherited syndrome varied in succeeding generations. Pure spastic paraplegia was present in the earliest generation; subsequent generations had ataxia and mental retardation. MRI showed marked atrophy of the spinal cord in all patients and cerebellar atrophy in those with ataxia. Laboratory analysis showed that the disorder was not caused by mutations in genes that cause SCA-1, SCA-2, SCA-3, SCA-6, SCA-7, SCA-8, and SCA-12; not linked to other known loci for autosomal dominant ataxia (SCA-4, SCA-5, SCA-10, SCA-11, SCA-13, SCA-14, and SCA-16); and not linked to known loci for autosomal dominant hereditary spastic paraplegia (HSP) (SPG-3, SPG-4, SPG-6, SPG-8, SPG-9, SPG-10, SPG-12, and SPG-13) or autosomal recessive HSP SPG-7. Analysis of intergenerational differences in age at onset of symptoms suggests genetic anticipation. Using RED, the authors did not detect expanded CAG, CCT, TGG, or CGT repeats that segregate with the disease. CONCLUSIONS: The authors describe an unusual, dominantly inherited neurologic disorder in which the phenotype (pure spastic paraplegia or spastic ataxia with variable mental retardation) differed in subsequent generations. The molecular explanation for apparent genetic anticipation does not appear to involve trinucleotide repeat expansion.

Adolescent↗
PubMed1997

Afghan children and mental retardation: information, advocacy and prospects.

The family and community situation of children with mental retardation (learning difficulties/disabilities) is discussed within the Afghan cultural heritage and the current realities of civil war and refugee villages. Some formal services are being developed for children with physical and visual impairments. Mental retardation and hearing impairments are comparatively neglected, as skills are lacking and progress tends to be much slower. Some casual integration occurs in ordinary schools and kindergartens, which should be supported. Experiences in family counselling can be developed and also extended by enlisting indigenous counsellors and healers. The major strategy for the foreseeable future will be support and enhancement of family resources.

Afghanistan↗
PubMed1997

Ataxic gait and mental retardation with absence of the paternal chromosome 8 and an idic(8)(p23.3): imprinting effect or nullisomy for distal 8p genes?

A female child with mild dysmorphisms, motor and mental retardation had a 45,XX,-8,-8,+psu dic(8)(p23.3) karyotype in blood lymphocytes, skin fibroblasts and in a lymphoblastoid cell line. DNA analysis showed that the proposita was nullisomic for the 8pter region distal to D8S264, at less than 1 cM from the telomere. Analysis of DNA polymorphisms of 38 loci spread along the entire chromosome 8 revealed that only maternal alleles were present, distributed in four heterozygous and four homozygous regions. This finding indicated that the rearrangement occurred during maternal meiosis in a chromosome recombinant with a minimum of seven crossovers. To our knowledge this is the first case of uniparental maternal disomy for chromosome 8 and of nullisomy for the distal 1-cM portion of the short arm. The available data are in favour of the assumption that no imprinted genes are present on chromosome 8. Thus, dysmorphisms, motor and mental retardation of the proposita are likely to be caused by the nullisomy for the region distal to D8S264, a region in which a recessive gene for epilepsy with progressive mental retardation is known to be located.

Adult↗
PubMed2006

The nuclear microspherule protein 58 is a novel RNA-binding protein that interacts with fragile X mental retardation protein in polyribosomal mRNPs from neurons.

The fragile X syndrome, the leading cause of inherited mental retardation, is due to the inactivation of the fragile mental retardation 1 gene (FMR1) and the subsequent absence of its gene product FMRP. This RNA-binding protein is thought to control mRNA translation and its absence in fragile X cells leads to alteration in protein synthesis. In neurons, FMRP is thought to repress specific mRNAs during their transport as silent ribonucleoparticles (mRNPs) from the cell body to the distant synapses which are the sites of local synthesis of neuro-specific proteins. The mechanism by which FMRP sorts out its different mRNAs targets might be tuned by the intervention of different proteins. Using a yeast two-hybrid system, we identified MicroSpherule Protein 58 (MSP58) as a novel FMRP-cellular partner. In cell cultures, we found that MSP58 is predominantly present in the nucleus where it interacts with the nuclear isoform of FMRP. However, in neurons but not in glial cells, MSP58 is also present in the cytoplasmic compartment, as well as in neurites, where it co-localizes with FMRP. Biochemical evidence is given that MSP58 is associated with polyribosomal poly(A)+ mRNPs. We also show that MSP58, similar to FMRP, is present on polyribosomes prepared from synaptoneurosomes and that it behaves as an RNA-binding protein with a high affinity to the G-quartet structure. We propose that this novel cellular partner for FMRP escorts FMRP-containing mRNP from the nucleus and nucleolus to the somato-dendritic compartment where it might participate in neuronal translation regulation.

Amino Acid Sequence↗