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PubMed2003

Restoration of competency to stand trial: a training program for persons with mental retardation.

This article describes the development and use of a formal training tool for restoration of competency in clients with mental retardation who are incompetent to stand trial. The program was developed at Eleanor Slater Hospital within the Rhode Island Department of Mental Health, Retardation and Hospitals. This article describes the development of The Slater Method, the training tool format, the procedure for use of the Slater Method, and the duration of treatment to restore competency to stand trial in clients with mental retardation. Although the developmentally disabled population is not limited to persons with mental retardation, we have used the phrase mental retardation instead of developmentally disabled because the judicial system more commonly uses mental retardation.

Crime↗
PubMed2003

Stocco dos Santos X-linked mental retardation syndrome: clinical elucidation and localization to Xp11.3-Xq21.3.

Mental retardation (MR) affects an estimated 2-3% of the population. A considerable fraction of mental retardation is due to X-linked genes. Of these genes, about 136 are responsible for syndromic X-linked MR (XLMR). One such XLMR syndrome, Stocco dos Santos, was first described in 1991. This family was re-visited, which allowed further delineation of the clinical phenotype. Additionally, linkage analysis was conducted, which resulted in the localization of this XLMR syndrome to the pericentric region, Xp11.3 to Xq21.1, with a maximum LOD score of 3.14 at loci AR and DXS983.

Chromosome Mapping↗
PubMed1989

Family life problems, daily caregiving activities, and the psychological well-being of mothers of mentally retarded children.

Problematic situations experienced by mothers of mentally retarded children and those characteristics of retarded children that may influence family life problems were examined. Thirty mothers had a mentally retarded child and 30 had only nonretarded children. Home interviews and follow-up telephone interviews were conducted on seven separate evenings. Comparisons revealed group differences in children's characteristics and in duration of maternal involvement in child-oriented activities. No overall group differences in maternal well-being emerged. Child welfare issues and restrictive time demands were the most intense family problems reported by mothers with retarded children. Ratings of more intense family problems were associated with more time spent with the child and more symptoms of maternal depression.

Activities of Daily Living↗
PubMed1980

Severe mental retardation in five siblings due to maternal phenyketonuria.

In an epidemiological investigtion of mental retardation in the county of Västerbotten in Sweden the mother of five severely mentally retarded children was found to have untreated phenylketonuria (PKU). None of the children had PKU. The maternal PKU may have been a cause of the mental retardation, retarded intrauterine growth and different types of malformations. There is now an increasing number of girls with PKU in whom dietary treatment has been carried out and already withdrawn. These girls require thorought information on the high risk of serious fetal damage before they become pregnant. Dietary treatment should be introduced before any conception.

Adolescent↗
PubMed2000

Detection of a cryptic translocation in a family with mental retardation using FISH and telomere region-specific probes.

Cryptic rearrangements involving the telomeres are thought to account for a substantial number of patients with unexplained mental retardation and multiple congenital anomalies, although the exact incidence of these rearrangements is still unclear. With the advent of chromosome-specific telomeric probes and the use of FISH (fluorescence in situ hybridization), it is now possible to identify submicroscopic rearrangements of the distal ends of chromosomes that may otherwise go undetected using conventional cytogenetic studies. We report on a 4 1/2 year-old girl with severe mental retardation and minor anomalies who inherited the unbalanced product of a cryptic translocation involving chromosomes 2 and 17 from her father. The family history was significant for early pregnancy losses, stillbirths, and mental retardation in many other family members, suggesting segregation of a familial translocation. This translocation was detected using chromosome-specific telomere FISH probes, and not visible using conventional cytogenetic methods. Collectively, this case and those previously reported clearly demonstrate the value of a systematic search for cryptic chromosome rearrangements in patients with unexplained mental retardation with previously reported normal chromosome studies; and in particular those with a family history of mental retardation, birth defects, or early pregnancy losses.

Adolescent↗
PubMed1990

Mental retardation, 1990: an overview.

This paper presents some of the major advances that have occurred in the field of mental retardation over the past 30 years. Included in this list are the developments of cytogenetics, etiology of cerebral palsy, progress in prevention as in Tay-Sachs disease and phenylketonuria, the fragile X syndrome, and the influence of certain aspects of diet on the developing fetus. Also included is a discussion of some of the areas of management of persons with mental retardation which remain as challenging problems for the future. These include persons who are both mentally retarded and emotionally ill, persons who are in penal institutions, and persons who have familial mental retardation.

Humans↗
PubMed1991

On the incidence of fits and mental retardation in tuberous sclerosis.

OBJECTIVES: To establish the frequency of fits and mental retardation in an unbiased group of tuberous sclerosis patients. METHODS: Known tuberous sclerosis families with more than one affected person were ascertained for a genetic linkage study. A number of members were born after genetic counselling had been given after identification of the proband. These subjects were then carefully examined clinically and in many cases with cranial computerised tomography, renal ultrasound, and skeletal survey but not echocardiography. They provide an unbiased group of tuberous sclerosis patients and allow affected patients with normal intellect to be diagnosed. PATIENTS: Thirty-seven tuberous sclerosis families were ascertained and 26 patients born after the family proband were identified. RESULTS: Sixteen of these 26 patients suffered fits (62%) and 10 patients were mentally retarded (38%). CONCLUSIONS: A lower incidence of fits and mental retardation has been found in an unbiased sample of tuberous sclerosis patients. The lifetime risk for fits might be higher had we been able to follow the patients for longer. However, we believe these are more appropriate figures to use in genetic counselling for this disease.

Adolescent↗
PubMedDate not supplied

Hair trace elements and mental retardation among children.

The calcium, magnesium, zinc, iron, and copper content found in scalp hair of 40 children with mental retardation were compared with 37 healthy normal children who were between the ages of 4 and 14 yr. The hair of children with mental retardation showed significantly lower levels of iron, copper, and magnesium (p less than .001) and higher levels of calcium (p less than .001). The zinc content did not differ between the two groups. The differences in levels of hair trace elements between normal children and those with mental retardation could be of particular interest in the investigation of the cause of mental retardation among children.

Adolescent↗
PubMed1998

Association between the diagnosis of mental retardation and socioeconomic factors.

Clinic data from the regional hospital in Cape Town, South Africa, over 4 years for 538 children with a diagnosis of mental retardation were examined in order to establish whether differences in mental retardation referral patterns existed between low and high socioeconomic areas. Results indicate that mild mental retardation referrals were underrepresented in low socioeconomic areas and that paramedical agencies were the primary referral source in these areas. Differences in mild mental retardation referral patterns by area over time may stem from service difficulties or variations in referral thresholds. Cross-cultural implications of the findings were discussed with relevance to the development of culturally sensitive community-based intervention programs.

Adolescent↗
PubMed1996

Distinct facial appearance with nasal hypoplasia, constipation, severe mental retardation and hypotonia in two unrelated young males.

In this report we describe two unrelated young males with severe mental retardation, persisting hypotonia, and constipation. A maternal uncle of one of these two boys died at the age of 18 months and presented the same clinical symptoms. The triad mental retardation, hypotonia, constipation is a characteristic finding in the FG syndrome, an X-linked mental retardation syndrome. At the present time, there is increasing evidence that the FG syndrome-phenotype may be present in different XLMR conditions, e.g. the fragile X syndrome. In addition to the triad severe mental retardation, hypotonia, constipation, the present two male index patients had a characteristic facial appearance with nasal hypoplasia, relative microcephaly and pre- and postnatal overgrowth. The question is raised whether the present two males are examples of a specific entity within the FG-syndrome-like phenotype.

Abnormalities, Multiple↗
PubMed2004

A 4q35.2 subtelomeric deletion identified in a screen of patients with co-morbid psychiatric illness and mental retardation.

BACKGROUND: Cryptic structural abnormalities within the subtelomeric regions of chromosomes have been the focus of much recent research because of their discovery in a percentage of people with mental retardation (UK terminology: learning disability). These studies focused on subjects (largely children) with various severities of intellectual impairment with or without additional physical clinical features such as dysmorphisms. However it is well established that prevalence of schizophrenia is around three times greater in those with mild mental retardation. The rates of bipolar disorder and major depressive disorder have also been reported as increased in people with mental retardation. We describe here a screen for telomeric abnormalities in a cohort of 69 patients in which mental retardation co-exists with severe psychiatric illness. METHODS: We have applied two techniques, subtelomeric fluorescence in situ hybridisation (FISH) and multiplex amplifiable probe hybridisation (MAPH) to detect abnormalities in the patient group. RESULTS: A subtelomeric deletion was discovered involving loss of 4q in a patient with co-morbid schizoaffective disorder and mental retardation. CONCLUSION: The precise region of loss has been defined allowing us to identify genes that may contribute to the clinical phenotype through hemizygosity. Interestingly, the region of 4q loss exactly matches that linked to bipolar affective disorder in a large multiply affected Australian kindred.

Chromosome Deletion↗
PubMed1989

Developmental psychology and mental retardation. Integrating scientific principles with treatment practices.

The current debates about "best practices" within mental retardation reflect key unresolved issues about the nature of mental retardation and the goals of treatment programs. The central axiom proposed is that better integration of basic principles about human development with treatment practices for children will yield substantial benefits to individuals and society. To illustrate the format for this proposed integration, three principles have been abstracted from scientific inquiry in human development: (a) targeted environmental prevention, (b) metacognitive conveyance, and (c) ecological dominion. A contextual analysis, using special education as an example of a major treatment setting, indicates that application of these developmental principles is likely to reduce the prevalence of mild retardation (as currently defined), to minimize social and behavioral problems, and to foster improved levels of environmental mastery (adaptive success) for many children with low IQs and cognitive deficiencies. Consistent with these developmental principles, the current construct of mental retardation is judged inadequate, and an alternative diagnostic strategy is proposed. This strategy is based on repeated developmental profiling of a child and his or her biosocial environmental history.

Child↗
PubMed1994

Issues in defining mental retardation.

Responses were made to MacMillan, Gresham, and Siperstein's (1993) criticisms of the new AAMR definition. The new AAMR definition does not raise the IQ limit and is not intended to increase the number of people considered to have mental retardation. There is no intent to change who is and who is not considered to have mental retardation. Instead, the intent is to change how people think about mental retardation: The old deficiency model is replaced with a new support model. MacMillan et al.'s criticisms are based on unfortunate misstatements of both the 1983 and the 1992 AAMR definitions of mental retardation and on misunderstandings of psychometric science. On the one hand, they argued that intelligence tests are culturally biased. On the other hand, they criticized the AAMR for not making greater use of inflexible IQ cutoffs in defining mental retardation. They misunderstood that cultural bias is an argument for, not against, flexibility in the interpretation of intelligence tests.

Attitude↗
PubMed2006

Nail aplasia, microcephaly, severe mental retardation and MRI abnormalities: report of two unrelated cases.

We present the clinical and laboratory features of two unrelated mentally retarded females with sporadic bilateral periventricular nodular heterotopia (BPNH), hypoplastic/absent nails and other malformative features. Clinical examination, MRI scanning, EEG recording, karyotyping and neuropsychological testing were performed. From a molecular genetic point of view, direct sequencing analysis, X-inactivation assay and telomere analysis were carried out in one patient. The two patients showed convincing similarities from clinical and neuroradiological points of view with BPNH, mental retardation, microcephaly and hypoplastic/absent nails of fingers and toes. Our two unrelated mentally retarded females may be affected by complex malformative syndromes sharing some common features such as BPNH, mental retardation and hypoplastic/absent nails. Further genetic studies are needed to better understand the pathogenetic bases of this neurological disease. These two cases widen the spectrum of BPNH-associated syndromes.

Abnormalities, Multiple↗
PubMed1982

[Experiences with psychopharmaceutic agents in mentally retarded children].

There is little known about the influence that psychopharmaca have on the specific biological and psychic characteristics of the mentally retarded child, but still these drugs are frequently prescribed for the treatment of behavioral problems and psychic disturbances of mentally retarded children. Clinical drug therapy of behavioral and psychic disturbances of mentally retarded children is discussed based on personal experience and attitudes of the author. Psychopharmaca can be a useful adjunct to psychotherapy or related therapeutic approaches. The aim must not be to change the behavior totally through the use of psychopharmaca, but to eliminate certain symptoms which hinder the effect of psychotherapy. The duration of the drug therapy should be limited to a few months. The proper combination of psychotherapy and drug therapy makes the use of these drugs superfluous after a few months. Practical advice is given for the physician who treats mentally retarded children.

Adolescent↗
PubMed2002

Absence of thumbs, A/hypoplasia of radius, hypoplasia of ulnae, retarded bone age, short stature, microcephaly, hypoplastic genitalia, and mental retardation.

The previously unreported combination of bilateral absence of thumbs, aplasia of ulna at one and hypoplasia of ulna on the other side, retarded bone age, short stature, microcephaly, micropenis, cryptorchidism, and mental retardation is described in a 5-year-old boy. Having excluded major differential diagnoses, e.g. Fanconi anemia, RAPADILINO syndrome and VACTERL association, we hypothesize that this boy represents a new multiple congenital anomaly/mental retardation (MCA/MR) syndrome.

Abnormalities, Multiple↗
PubMed1993

Fragile site X chromosomes in mentally retarded boys.

The fragile X syndrome is a common X-linked mental retardation and autism, affecting females as well as males. The fragile site X chromosomes were studied in a series of 153 mentally retarded boys of unknown etiology to determine the frequency of fragile X syndrome, and to assess the feasibility of making a clinical diagnosis of the fragile X syndrome in young boys before cytogenetic results were known. The 10 boys (6.4%) were positive for fra (X) (q27). The phenotype of fra (X) (q27) positive patients were typical except one who also had sex chromosomal mosaicism. There were three pairs of siblings among the fra (X) (q27) positive patients. Frequency of expression of the fragile site was in 10 to 47 per cent of cells. In addition, 19 boys showed a previously unsuspected chromosomal abnormality. The frequency of the fragile X syndrome in the present study is not significantly different from those in Caucasians and Japanese population. The fragile X syndrome can be recognized by noting key aspects of family history as well as the clinical features in mentally retarded boys.

Child↗
PubMed1994

Evaluation of the dating skills program for improving heterosocial interactions in people with mental retardation.

The effectiveness of a social skills training program for improving heterosocial interactions in persons with mental retardation was examined. Moderate to borderline mentally retarded subjects were selected based on problems with social anxiety and social skill deficits. Subjects were then randomly assigned to either a 12-session Dating Skills Program (DSP) or a wait list control (WLC) group. Assessments of social skills in a role-play test, knowledge about social/sexual situations, and social anxiety were obtained for all subjects at baseline, posttreatment, and at an 8-week follow-up. In addition, naturalistic observations were made of interactions of subjects in the DSP group. Subjects who participated in the DSP showed improvements in social skill and social/sexual knowledge at posttest and at follow-up compared to subjects in the WLC group. Social anxiety did not change over time for either group of subjects. Subjects who received the DSP increased interactions with persons of the opposite gender over time, while same-gender interactions decreased. The results replicate and extend previous research on the Dating Skills Program, and suggest that social skills training interventions may improve the heterosocial interactions of adults with mental retardation.

Adolescent↗