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PubMed2003

Completely skewed X-inactivation in a mentally retarded young female with pseudohypoparathyroidism type IB and juvenile renin-dependent hypertension.

Genetic analysis of the GNAS gene was performed in a patient with idiopathic renin-dependent hypertension, PTH resistance, and Albright's hereditary osteodystrophy-like characteristics such as a round face, short stature, obesity, and mental retardation (IQ, 49). Mutational analysis showed no mutations in exons 1-13 or in any exon-intron boundary. However, methylation-status analysis revealed a bialleic methylation defect in GNAS exon 1A, indicating that a GNAS-imprinting defect is the cause of her PTH resistance, as commonly observed in pseudohypoparathyroidism type IB. The imprinting defect, however, could not explain her renin-dependent hypertension and Albright's hereditary osteodystrophy-like phenotype. There are many types of X-linked mental retardation. Syndromic X-linked mental retardation, such as X-linked alpha-thalassemia mental retardation syndrome and Rett syndrome, is reportedly associated with abnormal imprinting. To further investigate this unexplained phenotype, we tested whether this patient showed skewed X-inactivation (SXI) presumably as a result of postinactivation selection against cells with a mutated gene on the active X-chromosome. Completely SXI was observed in the DNA from her leukocytes, urinary sediment, and renal tissue. A mutation of the X-chromosome might be correlated with this phenotype because of a close association between completely SXI and X-chromosomal mutation.

Adult↗
PubMed1979

Teaching mending skills to mentally retarded adolescents.

This experiment presents a model for analyzing community living skills and teaching them to mentally retarded adolescents. A task analysis of three mending skills was developed and validated, aided by consultation with persons having expertise in home economics and mental retardation. The task analysis was modified to compensate for the constraints imposed by the trainees' disabilities. Five moderately retarded youths received training on sewing hems, buttons, and seams. Sewing skills were acquired rapidly and maintained. The behavior generalized from trained to untrained tasks on their common components for all subjects. A multiple baseline across participants combined with a multiple baseline across responses demonstrated the combined effectiveness of an objectively validated, detailed task analysis; graduated sequence of prompts; and response consequences in training and maintaining community living skills with mentally retarded adolescents.

Adolescent↗
PubMed1984

Diagnostic approach to the etiology of mental retardation.

The clinical and laboratory investigation of the etiology of mental retardation is discussed. By clinically determining the stage of onset of the mental retardation, it is possible to dispense with a large number of special investigations. It is concluded that the laboratory is chiefly of value in confirming clinical suspicions, and that only rarely will random or routine testing yield an unexpected diagnosis. The possible exception is dermatoglyphic analysis in nondysmorphic, idiopathically retarded patients. This examination demonstrated probable antenatal causative factors in a high percentage of children with retardation of intrauterine origin. If further investigation were to confirm the findings, then this simple examination should be included in the routine evaluation of these cases.

Child, Preschool↗
PubMed1980

The Langer-Giedion phenotype associated with a unique skeletal finding in a mentally retarded adolescent male. A case report.

A case of a mentally retarded male patient with associated physical abnormalities resembling the multiple exostoses-mental retardation syndrome (MEMR, Langer-Giedion or Ale-Calo syndrome) is reported. The patient represents one of the most severe examples of this condition; he also has a triphalangeal thumb with double distal phalanges, a feature not reported previously.

Adolescent↗
PubMed1996

Growth differences associated with compulsive and stereotyped behavior disorders in adults with mental retardation.

We have recently observed that compulsive behaviors in mentally retarded patients appear to be quite prevalent, can be reliably assessed, and have a high rate of co-occurrence with stereotyped and self-injurious behaviors in this population. As abnormal growth rate has been observed in obsessive-compulsive disorder (OCD) patients, we examined physical stature in adults with mental retardation who display repetitive movement disorders. Identification of cases with stereotypic movement disorder, and cases with compulsive behaviors was done using a symptom checklist and direct observation. Subjects with repetitive movement disorders were smaller in stature than control subjects, with gender differences observed across repetitive behavior disorders. Specifically, female subjects with compulsive behavior disorder, but not stereotypic movement disorder, were significantly shorter and weighted significantly less than same sex-matched controls. Conversely, male subjects with stereotypic movement disorder, but not compulsive disorder, were significantly shorter and weighed significantly less than same sex controls. These findings may point to a neuroendocrine abnormality associated with repetitive movement disorders.

Adolescent↗
PubMed2002

ECT use delayed in the presence of comorbid mental retardation: a review of clinical and ethical issues.

The objective is to develop a clinically and ethically supportive literature for the use of electroconvulsive therapy (ECT) in patients with mental retardation who are concurrently experiencing a significant psychiatric illness. A review of both the clinical and ethical literature using traditional, manual library methods and the Medline and Psychlit databases was undertaken. In addition, a record of all patients who had undergone ECT at our facility between 1995 and 2000 was examined for patients with comorbid mental retardation. We found that the use of ECT for people who have both a psychiatric illness and comorbid mental retardation was significantly delayed. However, a rapid response to index, continuation, and maintenance ECT was also noted. Further, this response occurred with routine ECT administered irrespective of age, gender, diagnosis, stimulus parameters, electrode placement, or number of treatments. In addition, the successful use of right-sided unilateral ECT at six times the initial seizure threshold was reported in a patient who had previously responded to bilateral ECT. A cogent ethical justification was developed with the use of the rule of double effect. We concluded that for patients who have mental retardation and who subsequently develop a psychiatric illness, ECT is delayed and left as a treatment of last choice. Although the literature is sparse and uncontrolled, a cogent clinical and ethical justification may help negotiate these and other delays.

Comorbidity↗
PubMed1993

Mapping of a gene for non-specific X linked mental retardation: evidence for linkage to chromosomal region Xp21.1-Xp22.3.

Linkage analysis of a non-specific form of X linked mental retardation (MRX) was performed with 16 polymorphic markers spanning the entire X chromosome in a three generation Italian family, including four male patients with moderate mental retardation. One obligate carrier woman had mild mental retardation and another two had normal intelligence. The results indicate tight linkage to DNA markers DXS84 (L754), DXS164 (pERT87-15), and DXS278 (CRI-S232). A maximum lod score of 2.11 at theta = 0.00 was obtained with DXS164 and DXS278. The linked region spanned chromosomal bands Xp21.1-Xp22.3, that is, the same portion of the X chromosome where MRX2 and MRX10-13 have been previously localised.

Adolescent↗
PubMed1990

Dichotic stimulation and mental retardation.

Beginning with an overview of the complexities and current thinking with respect to the non-invasive behavioural technique of dichotic stimulation as it relates to hemispheric lateralization, the present paper examines the findings for dichotic stimulation in the area of mental retardation. A survey of the extant literature reveals that the application of dichotic stimulation with the mentally retarded has been relatively rare. However, given the paucity of studies, three conclusions can be drawn. First, when retarded subjects (excluding Down syndrome individuals) are compared to nonretarded subjects matched for mental age (MA), the ear asymmetries are invariably in the expected direction for the type of stimulus employed, however, the magnitude is variable. Second, under dichotic monitoring mentally retarded subjects (inclusive of Down syndrome individuals) demonstrate the same pattern of intrusion errors from the unattended right ear as do non-mentally retarded subjects matched for MA. Third, a majority of the dichotic stimulation studies have focused upon the "atypical" speech lateralization of Down syndrome individuals. The dichotic listening data are equivocal regarding the lateralization of speech in these individuals. However, there are two data sets that argue against their right hemispheric lateralization for speech. The first examines the intrusion errors demonstrated by Down syndrome individuals on dichotic monitoring tasks and the second examines the performance of Down syndrome subjects employing the dual-task interference paradigm.

Arousal↗
PubMed2002

Variable expression of mental retardation, autism, seizures, and dystonic hand movements in two families with an identical ARX gene mutation.

Two families, originally diagnosed as having nonsyndromic X-linked mental retardation (NSXLMR), were reviewed when it was shown that they had a 24-bp duplication (428-45 1dup(24bp)) in the ARX gene [Stromme et al., 2002: Nat Genet 30:441-445]. This same duplication had also been found in three other families: one with X-linked infantile spasms and hypsarrhythmia (X-linked West syndrome, MIM 308350) and two with XLMR and dystonic movements of the hands (Partington syndrome, MIM 309510). On review, manifestations of both West and Partington syndromes were found in some individuals from both families. In addition, it was found that one individual had autism and two had autistic behavior, one of whom had epilepsy. The degree of mental retardation ranged from mild to severe. A GCG trinucleotide expansion (GCG)10+7 and a deletion of 1,517 bp in the ARX gene have also been found in association with the West syndrome, and a missense mutation (1058C>T) in a family with a newly recognized form of myoclonic epilepsy, severe mental retardation, and spastic paraplegia [Scheffer et al., 2002: Neurology, in press]. Evidently all these disorders are expressions of mutations in the same gene. It remains to be seen what proportions of patients with infantile spasms, focal dystonia, autism, epilepsy, and nonsyndromic mental retardation are accounted for by mutations in the ARX gene.

Adult↗
PubMed2006

Mutations in the RSK2(RPS6KA3) gene cause Coffin-Lowry syndrome and nonsyndromic X-linked mental retardation.

We describe three families with X-linked mental retardation, two with a deletion of a single amino acid and one with a missense mutation in the proximal domain of the RSK2(RPS6KA3) (ribosomal protein S6 kinase, 90 kDa, polypeptide 3) protein similar to mutations found in Coffin-Lowry syndrome (CLS). In two families, the clinical diagnosis had been nonsyndromic X-linked mental retardation. In the third family, although CLS had been suspected, the clinical features were atypical and the degree of intellectual disability much less than expected. These families show that strict reliance on classical clinical criteria for mutation testing may result in a missed diagnosis. A less targeted screening approach to mutation testing is advocated.

Amino Acid Sequence↗
PubMed1997

Primary care of adults with mental retardation.

BACKGROUND: There is a national trend to deinstitutionalize mentally retarded adults, placing them in community residential settings. As a result, community-based primary care physicians will assume responsibility for their medical care. Primary care physicians may have uncertainties regarding the medical care of this population. The purpose of this case series is to describe the medical care of a group of adults with mental retardation during their first year of community residence following deinstitutionalization, and to provide practical advice to family physicians who care for these adults. METHODS: Medical diagnoses and medications at the time of deinstitutionalization of a series of 21 adults were abstracted from institutional records and transfer forms. Follow-up data were obtained from office medical records. RESULTS: In the first year following deinstitutionalization, each patient averaged 6.6 office visits to a family physician. Newly identified major health impairments were: chronic persistent hepatitis due to hepatitis B, acid peptic disease, gastroesophageal reflux disease, dysphagia, primary degenerative dementia, absence seizures, bronchiectasis, and idiopathic iridocyclitis. Significant changes in pharmacotherapy included consolidation of multidrug anticonvulsant regimens and discontinuance of psychotropics and laxatives. Health maintenance practices included hepatitis B immunizations, cholesterol determinations, smoking cessation counseling, and calcium supplementation. CONCLUSIONS: Newly deinstitutionalized patients require careful diagnostic and therapeutic reassessment. Family physicians assuming their care need to look for conditions common in this population, including dysphagia, seizure disorders, chronic hepatitis B, and sensory impairments. Previously neglected health maintenance practices need to be instituted. Pharmacotherapies, particularly anticonvulsants, psychotropics, and laxatives, may be amenable to dosage reduction or discontinuance.

Adult↗
PubMed1997

Mental retardation: a review of the past 10 years. Part I.

OBJECTIVE: To review the literature over the past decade on mental retardation, particularly as regards its definition, prevalence, major causes, and associated mental disorders. METHOD: A computerized search was performed for articles published in the past decade, and selected papers were highlighted. RESULTS: The study of mental retardation has benefited considerably by advances in medicine generally and by developments in molecular neurobiology in particular. Increasing awareness of psychiatric comorbidity in the context of intellectual disability highlights the need for studies of the phenomenology and treatment of mental disorders in this population. CONCLUSIONS: Although the study of developmental disorders has advanced significantly over the past decade, considerable work remains. Mental retardation is a model for the utility of the biopsychosocial approach in medicine.

Adolescent↗
PubMedDate not supplied

MRX8: an X-linked mental retardation condition with linkage to Xq21.

A family in which 6 males have X-linked mental retardation has been studied with polymorphic DNA probes. The males differ from unaffected males only in impaired intellect and in smaller head size. The gene that causes mental retardation in the family appears to be located in band Xq21 on the basis of linkage with 3 markers: DXS250, DXS345 and DXS3 (theta max = 0.00; Zmax = 1.6). A multipoint lod score of 2.36 was obtain with no recombination relative to DXS326 in Xq21. This family is considered to have nonspecific X-linked mental retardation and has been given the designation MRX8.

Adult↗
PubMed2004

Single-strand conformation polymorphism analysis of the FMR1 gene in autistic and mentally retarded children in Japan.

Fragile X syndrome is one of the most common causes of mental retardation in males, and patients with fragile X syndrome occasionally develop autism. It is usually caused by an expansion of the trinucleotide repeat in the 5'-untranslated region of the FMR1 gene, but in a small number of patients deletions and point mutations have been identified. We screened all 17 exons of the FMR1 gene for mutations in 90 autistic or mentally retarded children using polymerase chain reaction (PCR)-single strand conformation polymorphism (SSCP) analysis. No mutations were found in 76 male patients. However, one female patient was heterozygous for a normal allele and a mutant allele with an A to C substitution at nucleotide 879 in exon 9. This mutation was not found in 50 controls. Reverse transcription-PCR revealed that a large proportion of the mutant transcripts were spliced aberrantly, causing premature termination of the protein synthesis. Although uncommon, point mutations in the FMR1 gene may be a cause of autism and mental retardation in Japanese patients.

Alternative Splicing↗
PubMed1989

Social relationships of adolescents with moderate mental retardation.

The social relationships of 64 adolescents with moderate mental retardation from seven classes in a special day school were examined via two sociometric measures. Results indicated that the classes contained social structures similar to those found in regular classrooms for students without retardation. Students were selective in choosing friends and playmates, there was reciprocity in their friendship choices, and classes had popular and rejected students. Further, students frequently chose as friends members of the opposite sex, peers from other classes, and adults in the school and community. Implications for future research concerning the nature and development of friendships among students with mental retardation were discussed.

Adolescent↗
PubMed1999

Knowledge on sexual abuse and self-protection skills: a study on female Chinese adolescents with mild mental retardation.

OBJECTIVE: This study aimed to examine the level of sexual abuse knowledge and self-protection skills in a sample of female Chinese adolescents with mild mental retardation. It was hypothesized that the participants would exhibit impoverished knowledge on sexual abuse and related self-protection strategies. METHOD: A total of 77 female Chinese adolescents aged from 11 to 15 years old who met the inclusion criterion of the study were recruited from four special schools for mental retardation. The Chinese versions of the Personal Safety Questionnaire and the "What If' Situation Test (Wurtele, 1990) were administered orally to the participants during individual interviews. RESULTS: Participants were more able to accurately recognize inappropriate than appropriate touches and sexual requests, and possessed limited information about sexual abuse. They were also inadequate in protecting themselves against sexual abuse, and had the most difficulty in reporting the sexually abusive incident and characteristics of the offender. Regression analyses also showed that their sexual abuse knowledge was the best predictor for self-protection skills. CONCLUSION: The present findings provided strong cross-cultural support to previous Western studies that found females with mild mental retardation of high risk to sexual abuse and in need of specially designed prevention program to enhance their competency against sexual victimization and exploitation. With modification and refinement, measurement scales used in the Western general population could be extended to Chinese adolescents with mental retardation. Suggestions on the design of the sexual abuse prevention programs, limitations of the present study, and recommendations for future studies were also discussed.

Adolescent↗
PubMed1981

Further delineation of X-linked mental retardation.

Chromosomal, clinical, and psychological data are presented on members of six families with X-linked mental retardation. Affected males in three of these families express the fra(X)(q28) marker, while the retarded males in the other three do not. Similar variable physical and psychological characteristics, such a lop ears, large testes, and perseverative speech, are present in affected males in all six families. Preliminary analysis of the psychological data also shows that males with and without marker expression cannot be differentiated with certainty. On this basis we suggest that there is a type of X-linked mental retardation with many phenotypic features of marker-X mental retardation but without expression of the X chromosome fragile site.

Chromosome Fragile Sites↗
PubMed1981

An unpopular patient--the mentally retarded child.

To better evaluate the health care provided mentally retarded children, a study was conducted to determine the attitudes and behavior of nursing personnel toward these children. Since inconsistencies between expressed attitudes and subsequent behavioral descriptions are common, this study utilized unobtrusive behavioral observations followed by the administration of a questionnaire. The instrument elicited expressions of attitudes and behaviors of nursing personnel. The results demonstrated that nursing personnel expressed more neutral or negative attitudes and behavior toward mentally retarded children than toward "normal" children, and that their observed behavior was very different from their expressed behavior.

Attitude of Health Personnel↗