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PubMed1984

Mentally retarded siblings with congenital heart defect, peculiar facies and cryptorchidism in the male: possible McDonough syndrome with coincidental (X; 20) translocation.

We report on a family in which two of the three children (girl and boy) have a MCA/MR syndrome consisting of peculiar facies, retarded psychomotor development, mental retardation, congenital heart defect, kyphoscoliosis, diastasis recti, and cryptorchidism in the boy. This syndrome is quite similar to that of the only family previously described and which was denominated McDonough Syndrome. The syndrome is delineated and autosomal recessive inheritance is suggested as the most likely etiology. A balanced translocation (X; 20) in the affected boy and in the unaffected mother was a coincidental finding.

Abnormalities, Multiple↗
PubMed1977

A retrospective analysis of blood-lead in mentally retarded children.

Blood-lead concentrations were measured retrospectively in the blood contained on cards used for testing for phenylketonuria in the first two weeks of life. Cards which belonged to 80 of a group of 77 children with mental retardation of unknown aetiology and 77 controls were identified. Of 77 usable cards, 41 were from mentally retarded children and 36 were from controls; 24 mental-retardation/control pairs were found. There was a highly significant trend towards higher blood-lead concentrations in the mentally retarded children. Water-lead concentrations in the maternal home during pregnancy correlated with blood-lead concentrations in the mentally retarded children. These results reinforce the probable association between lead exposure during pregnancy and the development of mental retardation of otherwise unknown aetiology.

Child↗
PubMed2003

[Children of mentally retarded mothers--an inventory. Small group at risk with considerable need of assistance during an insecure childhood].

Children born to mentally retarded mothers usually have normal intelligence. Their fathers often suffer from psychosocial problems. These children often grow up in an environment of insecurity and understimulation. How many are there? In 1995 an inventory was made in Skaraborg county (275,000 inhabitants), Sweden, based on the mothers' registration with the county authorities responsible for supporting people with mental retardation and on the general population register. A prevalence of 1.4 per thousand was found. Reasons for a higher true prevalence are discussed. The majority of the mothers had mild mental retardation. The rate of childbearing among mentally retarded women fell from 30 to 15 percent over the last three decades up to 1995. The prevalence for women with mental retardation was at least 1.1 percent.

Adult↗
PubMed1998

A closer look at interpersonal decision-making in adults with and without mental retardation.

Two experiments were conducted to examine the interpersonal decision-making performance of women and men with and without mental retardation. In Experiment 1, adults with mental retardation listened to either short or long vignettes depicting situations in which a female or male protagonist was faced with a decision involving either a peer or authority figure. In Experiment 2, adults without mental retardation were presented with long versions of the vignettes. As expected, the task was considerably more difficult for the participants with mental retardation, possibly because of differences in their ability to fully comprehend the social situations. Women in both studies outperformed men. Results suggest that emotional and motivational factors may have contributed to these differences.

Adult↗
PubMed1996

Comparison of sustained and selective attention in children who have mental retardation with and without attention deficit hyperactivity disorder.

Attention deficits have been demonstrated in children with attention deficit hyperactivity disorder (ADHD) in the general population, but little is known about attention deficits in children with ADHD who also have mental retardation. In this investigation, children with ADHD and mental retardation were compared to those with mental retardation without ADHD on tasks assessing sustained and selective attention. Although children with ADHD and mental retardation made fewer correct target detections and more commissions on a vigilance task, no compelling evidence emerged for sustained attention deficits. However, evidence did emerge that was suggestive of selective attention deficits in these children. Results also suggest that girls with mental retardation may be at a higher risk for ADHD than are girls in the general population.

Adolescent↗
PubMed2005

X-linked mental retardation, short stature, microcephaly and hypogonadism maps to Xp22.1-p21.3 in a Belgian family.

X-linked mental retardation (XLMR) is a heterogeneous disorder that can be classified as either non-specific (MRX), when mental retardation is the only feature, or as syndromic mental retardation (MRXS). Genetic defects underlying XLMR are being identified at a rapid pace, often starting from X-chromosomal aberrations and XLMR families with a well-defined linkage interval. Here, we present a new family with a syndromic form of XLMR, including mild mental retardation, short stature, microcephaly and hypogonadism. Two-point linkage analysis with 24 polymorphic markers spanning the entire X chromosome was carried out. We could assign the causative gene to a 6 cM interval in Xp22.1-p21.3, with a maximum LOD score of 2.61 for markers DXS989 and DXS1061 at theta = 0.00. No mutations were found in the presented family for two known MRX genes mapping to this interval, ARX and IL1RAPL-1. These data indicate that the interval Xp22.1-p21.3 contains at least one additional MRXS gene.

Adult↗
PubMed1991

Fragile X-linked mental retardation and the difficulties of reverse genetics.

Fragile X-linked mental retardation is an enigmatic inheritable syndrome in which severe mental retardation, a cytogenetically detectable fragile site at Xq27.3 (FraX) and a number of dysmorphic features are associated. Genetic analysis shows that the mode of inheritance is more complex than a straightforward X-linked recessive trait and probably involves a two-step process for which several models have been proposed. Early attempts at 'cloning the fragile site' provided several DNA segments lying in its general vicinity, and large scale DNA mapping methods were extensively applied in an effort to generate maps including this region. These efforts were complemented by more focussed methods such as microdissection; together these approaches have now provided a number of DNA segments within a 5 cM interval around FraX, and with the help of these new probes the site is indeed being cloned. Unravelling the nature of the sequence(s) responsible for the mental retardation syndrome will probably take some time, however.

Animals↗
PubMed2000

Ophthalmologic abnormalities in mentally retarded.

PURPOSE: To determine the prevalence and types of ophthalmologic abnormalities in mentally retarded subjects. METHODS: Seventy-three institutionalized mentally retarded subjects (41 boys and 32 girls) aged 5 to 19 years (mean: 11.5 years) were examined ophthalmologically during a three month period (from May to July 1999). The eye examination consisted of visual acuity testing (illiterate Snellen E-chart or acuity card procedures), pupillary reflex and motility evaluation, cover test for phoria and tropia, examination of adnexa and anterior segment (magnifying glass or slit-lamp biomicroscopy if indicated and possible), retinoscopy and direct ophthalmoscopy. All subjects were evaluated pediatrically, neurologically, psychologically and otorhinolaryngologically if indicated. RESULTS: Ophthalmologic abnormalities were found in 60.2% of the subjects. Eyelid abnormalities accounted for 21.7%, fundus abnormalities for 21.6%, refractive errors for 15% and ocular motility disorders for 13.6%. Taken separately, optic atrophy (16.4%) was the most frequent disorder, followed by refractive errors (15%), hypertelorism (12.3%), epicanthus (10.9%) and nystagmus (8.2%). Strabismus and mongoloid obliquity of lids were seen in 5.4% each other while ptosis was disclosed in 4.2% of cases. Visual acuity tested in 60 subjects revealed that 25 (41.6%) had visual impairment. Of all subjects 10.9% required corrective glasses while 9.6% needed corrective surgery for strabismus and ptosis. CONCLUSION: This study shows a high prevalence of ophthalmologic abnormalities in mentally retarded subjects. This is in agreement with the results of several other previous studies. It's therefore essential to screen mentally disabled subjects ophthalmologically.

Adolescent↗
PubMed2007

The role of cognition and adaptive behavior in employment of people with mental retardation.

Few studies have specifically investigated the cognitive correlates of employment for persons with mental retardation. To evaluate the relationship of cognitive and adaptive functioning to work status, 56 competitively employed and 55 unemployed individuals with mental retardation underwent a comprehensive neuropsychological and adaptive behavioral evaluation. Results of multivariate analysis of covariance (MANCOVA) revealed significant group differences in cognitive and adaptive behavioral domains controlling for gender and severity of mental retardation. Follow-up ANCOVAs showed that the employed group performed significantly better than the unemployed group on measures of attention, memory, verbal comprehension, visual perception, and adaptive behavior. Using discriminant function analysis, 73.2 percent of the employed and 76.4 percent of the unemployed people were predicted correctly. These results suggest that adaptive behavior and specific aspects of cognitive functioning are significant predictors of successful employment for persons with mental retardation.

Adaptation, Psychological↗
PubMed2002

X-linked mental retardation with seizures and carrier manifestations is caused by a mutation in the creatine-transporter gene (SLC6A8) located in Xq28.

A family with X-linked mental retardation characterized by severe mental retardation, speech and behavioral abnormalities, and seizures in affected male patients has been found to have a G1141C transversion in the creatine-transporter gene SLC6A8. This mutation results in a glycine being replaced by an arginine (G381R) and alternative splicing, since the G-->C transversion occurs at the -1 position of the 5' splice junction of intron 7. Two female relatives who are heterozygous for the SLC6A8 mutation also exhibit mild mental retardation with behavior and learning problems. Male patients with the mutation have highly elevated creatine in their urine and have decreased creatine uptake in fibroblasts, which reflects the deficiency in creatine transport. The ability to measure elevated creatine in urine makes it possible to diagnose SLC6A8 deficiency in male patients with mental retardation of unknown etiology.

Adolescent↗
PubMed1986

A review of treatment research for aggressive and disruptive behavior in the mentally retarded.

This study reviews current treatment research on aggression of mentally retarded persons. Twenty-seven studies meet methodological criteria from an initial pool of 47. All the studies reviewed were empirical and had been published in national and internationally recognized journals. Treatments were behavioral and level of mental retardation and ages of the persons studied varied widely. Age and level of mental retardation proved to be significant factors in predicting treatment outcome. Also, it was found that some types of behaviors were treated more frequently than others, with inappropriate verbal responses being the most common, followed by aggression toward others and noncompliance. The implications of these findings are discussed.

Adolescent↗
PubMed1997

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

OBJECTIVE: To review the literature over the past decade on mental retardation, particularly with respect to genetics and behavioral phenotypes. 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. These advances in genetics have led to new insights regarding the causes of mental retardation, as well as a growing appreciation of behavioral phenotypes associated with some mental retardation syndromes. CONCLUSIONS: Although the study of developmental disorders has advanced significantly over the past decade, considerable work remains. Mental retardation should remain the model for the utility of the biopsychosocial approach in medicine.

Adolescent↗
PubMed1988

Relationship between children's attitudes toward and their social acceptance of mentally retarded peers.

The relationship between the attitudes children express toward mentally retarded peers in laboratory settings and their social acceptance of such peers in their mainstream classrooms was examined. Forty-six fourth through sixth graders expressed their attitudes toward an unknown mentally retarded student presented in a videotape. They also indicated their social acceptance, rejection, or neglect of a mentally retarded peer in their classroom. A step-wise multiple regression analysis showed that children's attitudes toward the target child in the laboratory setting were related to their sociometric choices of the retarded classmate. Results supported previous indirect evidence of a relationship between children's attitudes toward retarded peers presented in a laboratory setting and their social acceptance of retarded peers mainstreamed in their classrooms.

Adaptation, Psychological↗
PubMed1990

From theory to practice in the care and education of mentally retarded individuals.

Issues related to the care and education of mentally retarded individuals were examined from a historical perspective. Historical analysis shows that institutions and special education services spring from common, although not identical, societal and philosophical forces. The adequacy and implications of the normalization concept were discussed in relation to both deinstitutionalization and mainstreaming, with the conclusion that mental retardation workers must pay more attention to bettering the lives of retarded individuals and less to the "social address" at which interventions take place. Suggestions for the future care and education of retarded individuals were provided, and the proper role of science in the mental retardation field was discussed.

Combined Modality Therapy↗
PubMed1999

History of mental retardation: an essay review.

The history of mental retardation previously focused on residential institutions and the ideas of professionals. Given that the vast majority of people with mental retardation lived in their family homes or other locations in their communities, this emphasis has been misleading. Recent historical studies by James W. Trent Jr.; Philip M. Ferguson; Steven Noll; and the British scholars in David Wright and Anne Digby's collection, From Idiocy to Mental Deficiency, have opened up the field by describing the complicated relationships between families and the state, by outlining the development of lay concepts of mental disabilities, and by acknowledging the wide diversity of experiences of people with mental disabilities.

Historiography↗
PubMed2005

Localization of a novel locus for alopecia with mental retardation syndrome to chromosome 3q26.33-q27.3.

Alopecia with mental retardation syndrome is a rare autosomal recessive disorder characterized clinically by total or partial alopecia and mental retardation. In an effort to understand the molecular bases of this form of alopecia syndrome, large Pakistani consanguineous kindred with multiple affected individuals has been ascertained from a remote region in Pakistan. Genome wide scan mapped the disease locus on chromosome 3q26.33-q27.3. A maximum two-point LOD score of 3.05 (theta = 0.0) was obtained at marker D3S3583. Maximum multipoint LOD score exceeding 5.0, obtained with several markers, supported the linkage. Recombination events observed in affected individuals localized the disease locus between markers D3S1232 and D3S2436, spanning 11.49-cM region on chromosome 3q26.33-q27.3. Sequence analysis of a candidate gene ETS variant gene 5 from DNA samples of two affected individuals of the family revealed no mutation.

Alopecia↗
PubMed1994

Assaultiveness among institutionalised adults with mental retardation.

In an institution, 57 people with mental retardation who had shown assaultive behaviour during the last year were compared with a control group of 57 people in the same institution, matched by sex, level of retardation and age. The study group were younger and had more people with a moderate level of mental retardation than the total population of the institution. Compared with the controls, the assaultive group had more resources available, had more psychopathology, consumed more psychotropic drugs, and had a higher frequency of other problem behaviour. We found no group differences in personal skills, including communication. Generally, the observed covariates of assaultive behaviour resembled that seen in other populations with assaultive behaviour.

Adolescent↗
PubMed1994

Incidence of obesity among school children with mental retardation in Japan.

The incidence of obesity of children with mental retardation was determined in a sample of 20,031 pupils and students at special schools in Japan. The incidence was higher among girls than boys and in the junior and senior high departments (12 to 17 years) than in the elementary department (6 to 11 years). It was also higher among children with mental retardation of elementary and junior-high age than among children without mental retardation of the same age. The incidence of major diseases among obese children was also determined.

Adolescent↗