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PubMed2005

Preattentive orienting in adolescents with mental retardation.

Visual attention is preattentively drawn to abrupt onsets of stimuli appearing in a visual array. In this experiment, I examined the speed of attentional capture for persons with and without mental retardation. Participants identified target stimuli that were signaled by a valid location cue (20% of the time), an invalid location cue (60% of the time), or no cue (20% of the time). Participants without mental retardation exhibited maximum influence of the cue at cue/target separations that were 100 msec shorter than did participants with mental retardation. These results indicate that processing-speed differences between persons with and those without mental retardation can be observed even when processing resources not involved in the information processing.

Adolescent↗
PubMed1998

Familial cortical tremor, epilepsy, and mental retardation: a distinct clinical entity?

OBJECTIVE: To describe a European family with cortical tremor, epilepsy, and mental retardation, the pedigree of which indicates an autosomal dominant inheritance of the disease. DESIGN: Clinical, laboratory, neurophysiological, and neuroimaging data were studied. SETTING: Institute for research on mental retardation. PATIENTS: Two siblings (aged 25 and 28 years) and their 49-year-old mother had postural and action tremor, seizures, and mental retardation. Only tremor was present in the maternal grandmother (aged 68 years). The electroencephalogram showed diffuse spike-and-wave complexes and/or posterior spikes, and a photoparoxysmal response in the 4 subjects. The typical electrophysiologic features of cortical reflex myoclonus, such as giant somatosensory evoked potentials, enhancement of the C-reflex, and jerk-locked premyoclonus spikes, were found in all patients. CONCLUSION: This syndrome may represent a specific form of familial cortical tremor with a benign form of epilepsy and a new genetic model of cortical hyperexcitability inherited with an autosomal dominant mechanism.

Adult↗
PubMed1999

Nonsyndromic X-linked mental retardation: mapping of MRX58 to the pericentromeric region.

An Austrian family with nonsyndromic X-linked mental retardation (MRX) is reported in which the obligatory carrier females are normal, and 5 affected males have mild to moderate mental retardation. Linkage analysis indicated an X pericentromeric localization, with flanking markers DXS989 and DXS1111 and a maximum multipoint LOD score of 2.09 (straight theta = 0) for the 7 cosegregating markers DXS1243, CybB, MAOB, DXS988, ALAS2, DXS991, and AR. MRX58 thus mapped within a 50-cM interval between Xp11.3 and Xq13.1 and overlapped with 23 other MRX families already described. This pericentromeric clustering of MRX families suggests allelism, with a minimum of 2 X-linked mental retardation (XLMR) genes in this region.

Centromere↗
PubMed2002

Transcription factor SOX3 is involved in X-linked mental retardation with growth hormone deficiency.

Physical mapping of the breakpoints of a pericentric inversion of the X chromosome (46,X,inv[X][p21q27]) in a female patient with mild mental retardation revealed localization of the Xp breakpoint in the IL1RAPL gene at Xp21.3 and the Xq breakpoint near the SOX3 gene (SRY [sex determining region Y]-box 3) (GenBank accession number NM_005634) at Xq26.3. Because carrier females with microdeletion in the IL1RAPL gene do not present any abnormal phenotype, we focused on the Xq breakpoint. However, we were unable to confirm the involvement of SOX3 in the mental retardation in this female patient. To validate SOX3 as an X-linked mental retardation (XLMR) gene, we performed mutation analyses in families with XLMR whose causative gene mapped to Xq26-q27. We show here that the SOX3 gene is involved in a large family in which affected individuals have mental retardation and growth hormone deficiency. The mutation results in an in-frame duplication of 33 bp encoding for 11 alanines in a polyalanine tract of the SOX3 gene. The expression pattern during neural and pituitary development suggests that dysfunction of the SOX3 protein caused by the polyalanine expansion might disturb transcription pathways and the regulation of genes involved in cellular processes and functions required for cognitive and pituitary development.

Chromosome Breakage↗
PubMed1986

Research on parenting by mentally retarded persons.

This article focuses on research related to the assessment and training of parenting competencies of persons with mental retardation and the status of the children being raised by retarded parents. Previous findings and that of our own investigations suggest that (1) children of mentally retarded parents are at risk for language and cognitive delays, mental retardation, maltreatment, and neglect; (2) child development is highly correlated with the quality of the home environment and mother-child interactions; (3) retarded mothers provide less positive interactions with their children during play than do nonretarded mothers; and (4) retarded mothers can be taught to improve their child-rearing skills.

Child↗
PubMed1996

Genetic and physical mapping of the progressive epilepsy with mental retardation (EPMR) locus on chromosome 8p.

Progressive epilepsy with mental retardation (EPMR) is an autosomal recessive disorder discovered recently from an isolated region in Finland. The disorder is characterized by normal early development, generalized tonic-clonic seizures with onset at 5-10 years of age, and progressive mental retardation beginning 2-5 years after the onset of seizures. We recently mapped the EPMR locus to a 7-cM region on chromosome 8p between markers AFM185xb2 and D8S262. A recombination detected with a new microsatellite marker AFMa054td9 narrows the region to 4 cM. A yeast artificial chromosome (YAC) contig containing 22 YACs was constructed across the disease gene region. The YAC contig is characterized by a collection of 19 YAC-end sequence-tag sites together with seven microsatellite markers. The entire YAC contig spans a minimum of 3 Mb. Moreover, the distal end of the contig contains a subtelomeric YAC yRM2205 that anchors the contig to the telomere. Construction of a YAC contig across the disease gene region is an essential step toward the isolation of the EPMR gene.

Chromosome Mapping↗
PubMed1982

Effect of a consultant pharmacist on medication use in an institution for the mentally retarded.

The effect of a consultant pharmacist on medication use in an institution for the mentally retarded was studied. One year after hiring the consultant pharmacist and the implementation of a multidisciplinary approach to patient care at institution A, a previous medication survey was repeated for 715 patients. Medication use at a nearby mental retardation institution (institution B) with 1049 patients was surveyed once. The overall percentage of patients receiving antipsychotics or anticonvulsants in institution A was not different in the two surveys. There was a significant increase in the percent of patients receiving single drug entities in the second survey (for antipsychotics, 4.9% versus 9.1%; for anticonvulsants, 2.7% versus 15.1%). The use of long-term medications decreased from 76.1% to 56.8% of the population, and the use of individual antipsychotic agents changed significantly. The survey at institution B, a similar facility with less direct pharmacy involvement, showed significantly more use of antipsychotics than at institution A (34.2% versus 16.8%) and fewer patients receiving no long-term medications (29.2% versus 43.2%). The results suggest that the direct clinical involvement of skilled pharmacists in cooperation with other health professionals can significantly alter the patterns of medication use in a long-term care facility for the mentally retarded.

Antipsychotic Agents↗
PubMed1986

Mental retardation and subnormality in a birth cohort of 12,000 children in Northern Finland.

The occurrence of mental retardation and subnormality were investigated in a one-year birth cohort (N = 12,058) from two provinces in Northern Finland; 96% of the children were followed-up to the age of 14. Of these children 253 (2.2%) were unable to go to an ordinary school and 449 (3.8%) were attending an ordinary school in a class lower than that appropriate for their age. The cumulative incidence of severe mental retardation (IQ less than 50) was 7.4 per 1,000; for mild mental retardation (IQ 50 to 70), 5.5 per 1,000; and for mental subnormality (IQ 71 to 85), 13.4 per 1,000. The corresponding prevalence rates were 6.3, 5.6, and 13.7 per 1,000. The total cumulative incidence of children with IQ less than 86 was 27.0 per 1,000 and the prevalence 25.6 per 1,000. There were 39 cases with Down syndrome, 3.2 per 1,000.

Down Syndrome↗
PubMed2004

X-linked mental retardation and autism are associated with a mutation in the NLGN4 gene, a member of the neuroligin family.

A large French family including members affected by nonspecific X-linked mental retardation, with or without autism or pervasive developmental disorder in affected male patients, has been found to have a 2-base-pair deletion in the Neuroligin 4 gene (NLGN4) located at Xp22.33. This mutation leads to a premature stop codon in the middle of the sequence of the normal protein and is thought to suppress the transmembrane domain and sequences important for the dimerization of neuroligins that are required for proper cell-cell interaction through binding to beta-neurexins. As the neuroligins are mostly enriched at excitatory synapses, these results suggest that a defect in synaptogenesis may lead to deficits in cognitive development and communication processes. The fact that the deletion was present in both autistic and nonautistic mentally retarded males suggests that the NLGN4 gene is not only involved in autism, as previously described, but also in mental retardation, indicating that some types of autistic disorder and mental retardation may have common genetic origins.

Adolescent↗
PubMed1964

TREATMENT OF THE MENTALLY RETARDED. THE ROLE OF THE LOCAL PHYSICIAN.

Misconceptions and failure to keep abreast of current knowledge handicap the family physician in treating mentally retarded persons. Also, physicians in general apparently would rather treat acute than chronic conditions. Multiple causes of mental retardation indicate the condition is a symptom, not a disease entity. Every patient can be helped in some degree. The treatment must always be carried out under medical supervision, whether educational, habilitational, psychological or purely the giving of medicine. Particularly should the physician be concerned with prenatal care, metabolic disorders, increasing numbers of the "battered child syndrome," genetic counseling, psychotherapy and counseling for parent as well as child. The physician must be aware of the gaps in comprehensive services to the retardate and assist in the closing of them.

Child↗
PubMed1965

Childhood asthma and mental retardation.

Four hundred consecutive outpatients seen at the Children's Psychiatric Research Institute, London, Ont., were investigated to determine whether there is a negative correlation between childhood asthma and mental retardation. Of these, 380 were mentally retarded and 20 were of normal intelligence. Only two cases of childhood asthma were found. One of these had an I.Q. of 108 and the other 78, so that no case of asthma was found in the mentally retarded group. On the basis of a reported prevalence rate for asthma of 1.76%, one would expect six or seven cases among the 400. By contrast, among the approximately 800 parents there were 11 cases of chronic asthma, a figure which is approximately the expected number.

Asthma↗
PubMed2000

Clozapine treatment in a population of adults with mental retardation.

BACKGROUND: There is a paucity of data on the use of clozapine in patients with mental retardation and comorbid psychiatric illness. The authors describe their recent clinical experience using clozapine in treatment-refractory patients with mental retardation and severe psychiatric illness. METHOD: A retrospective review was performed on the records of all patients admitted to a university-affiliated, specialized inpatient psychiatry service who were selected for clozapine therapy from March 1994 through December 1997 (N = 33). Patients had DSM-IV diagnoses of schizophrenia, schizoaffective disorder, bipolar disorder, delusional disorder, or psychotic disorder NOS and were considered treatment resistant. All had deficits in functioning well beyond those expected for their degree of cognitive deficits and adaptive delays. RESULTS: Of 33 initial patients, 26 remained on clozapine therapy for a follow-up duration of 5 to 48 months (mean = 24.8 months). Evaluation at follow-up revealed Clinical Global Impressions-Improvement (CGI-I) scores from 1 to 4 with a mean +/- SD improvement of 2.0 +/- 0.8 (much improved). The mean +/- SD rating of the CGI-Efficacy Index was 5 +/- 2.6 (decided improvement and partial remission of symptoms with no interference from side effects). The 6 patients who were not maintained on clozapine therapy over the study period did not significantly differ from the clozapine group in gender, race, age, side effects, or diagnosis. One patient was lost to follow-up. Side effects were mild and transient with constipation being the most common (N = 10). There were no significant cardiovascular side effects and no seizures. No patients discontinued treatment due to agranulocytosis. CONCLUSION: The current investigation lends support to the conclusion that clozapine appears to be safe, efficacious, and well tolerated in individuals with mental retardation and comorbid psychiatric illness.

Adult↗
PubMed2005

Subtelomeric rearrangements in the mentally retarded: a comparison of detection methods.

In recent years, subtelomeric rearrangements, e.g., chromosome deletions or duplications too small to be detected by conventional cytogenetic analysis, have emerged as a significant cause of both idiopathic and familial mental retardation. As mental retardation is a common disorder, many patients need to be tested on a routine basis. In this review, we will discuss the different methods that have been applied in laboratories worldwide, including multiprobe fluorescence in situ hybridization (FISH), multiallelic marker analysis, multiplex amplifiable probe hybridization (MAPH), multiplex ligation-dependent probe amplification (MLPA), quantitative real-time PCR, comparative genomic hybridization (CGH), and multicolor FISH, including spectral karyotyping (SKY), subtelomeric combined binary ratio labeling FISH (S-COBRA FISH), multiplex FISH telomere integrity assay (M-TEL), telomeric multiplex FISH (TM-FISH), and primed in situ labeling (PRINS).

Alleles↗
PubMed1985

Dental health and dental care in severely mentally retarded children.

Dental health of 103 children with severe mental retardation living in the north of Sweden, has been surveyed and compared with that of a control group of healthy children of normal intelligence. Data has been related to medical diagnosis, medication, type of residence and previous dental care. The children with severe mental retardation had been offered dental care to the same extent as the control children. Lack of cooperation in treatment and treatment under general anaesthesia was common among the SMR-children. The SMR-children who lived in institutions had a lower prevalence of caries than either those SMR-children not living in institutions or the control group. The SMR-children had a considerably higher frequency of inflamed gingival surfaces and pathological gingival pockets than the control children. The highest frequency was found among children with Down's syndrome. Gingival hyperplasias were recorded in 21% of the SMR-children. The study showed that the children with SMR had shared the generally improved dental care resources and that regular dental care had ensured that there was no neglected need for caries treatment. Periodontal health was poor and the need for stronger and appropriate preventive measures against gingivitis and periodontitis was considerable.

Adolescent↗
PubMed1988

[Chromosome X-linked mental retardation and marfanoid syndrome].

In the present paper we report two pairs of slightly 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. (1984) in 4 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↗
PubMed1989

[Salivary microbial flora of mentally retarded persons with rumination].

The salivary microflora of institutionalized mentally retarded persons with chronic rumination was investigated, especially emphasizing the occurrence of the aciduric microorganisms such as mutans streptococci, lactobacilli and yeasts. 10 of those subjects together with 10 control subjects resident in the same institution were selected at random. The control subjects were mentally retarded but without rumination. Samples of saliva were collected about 2 hours after lunch. The results obtained were as follows: 1. Dental caries was more prevalent and advanced in those ruminating than the control subjects. 2. The mean salivary pH-value in the ruminating subjects was significantly lower than the control subjects. 3. The proportional distribution of the genera or species of salivary microorganisms cultivated on the blood agar plates was similar for both the ruminating and non-ruminating subjects. The only difference was observed in the genus of Actinomyces, which was less frequently isolated from the ruminating subjects. 4. Mutans streptococci, lactobacilli and yeasts recovered from their respective selective media were significantly predominant in those ruminating compared with control subjects. 5. Positive correlations among the cell count of mutans streptococci, lactobacilli and yeasts were found in the ruminating subjects. The yeasts isolated were classified exclusively into Candida albicans. 6. The results described above suggest that long-lasting acidic milieu in the oral cavities of the ruminating subjects favors the proliferation of mutans streptococci, lactobacilli and yeasts, resulting in the prevalence of dental caries in those subjects.

Adolescent↗
PubMed1996

Mental retardation: genetic findings, clinical implications and research agenda.

The most important genetic advances in the field of mental retardation include the discovery of the novel genetic mechanism responsible for the Fragile X syndrome, and the imprinting involved in the Prader-Willi and Angelman syndromes, but there have also been advances in our understanding of the pathogenesis of Down syndrome and phenylketonuria. Genetic defects (both single gene Mendelizing disorders and cytogenetic abnormalities) are involved in a substantial proportion of cases of mild as well as severe mental retardation, indicating that the previous equating of severe mental retardation with pathology, and of mild retardation with normal variation, is a misleading over-simplication. Within the group in which no pathological cause can be detected, behaviour genetic studies indicate that genetic influences are important, but that their interplay with environmental factors, which are also important, is at present poorly understood. Research into the joint action of genetic and environmental influences in this group will be an important research area in the future.

Chromosome Aberrations↗
PubMed1978

The management of drug induced gingival hyperplasia in mentally retarded patients with hemophilia: a report of two cases.

Two cases of hemophilia in severely mentally retarded patients with drug-induced gingival hyperplasia are presented. The method of management in each case is described. A conservative approach is recommended in which tissue removals and only selected extractions are performed. It is also suggested that the sequela of dilantin hyperplasia be considered when dilantin is used in patients with hemophilia or severely mentally retarded patients whose oral hygiene may be difficult to maintain. If feasible, as in the first case reported, discontinuance of the drug should be considered. In case 2 the patient is presently being weaned from dilantin therapy. It should be understood that the authors are concerned with the immediate clinical management of drug-induced gingival hyperplasia in mentally-retarded patients with hemophilia. Although this method of management has proved successful in the hands of the authors, we do not have data to show that it is the best form of treatment for these patients.

Adult↗