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Down syndrome in a population of elderly mentally retarded patients: genetic-diagnostic survey and implications for medical care.

Ninety-six adults with Down syndrome (DS) from an institutional setting of 591 mentally retarded were investigated systematically with respect to cytogenetic diagnosis, mental functioning and dementia, ophthalmological and audiological abnormalities, and thyroid function. Seventy of the 96 DS patients (73%) were older than 40 years. Only 4.2% were females. Trisomy 21 was found in 86% and mosaic trisomy 21 in 13%. Eighty-two percent of the patients were moderately or severely mentally retarded, 15% were profoundly retarded, and only 3% mildly retarded. Nineteen percent of the patients had dementia. This number increased to 42% of the patients above the age of 50 years. Epileptic seizures were present in 16.7% of all patients, and in 50% of the patients with dementia. Only 17% of the patients in the present study had normal visual acuity, one-third had at least moderately reduced vision. This number increased significantly with age: in the age group 50-59 years almost half of the patients had moderate to severe vision loss. Seventy percent of the patients had moderate, severe, or very severe hearing loss, which was undiagnosed before systematic hearing testing was performed. Increased (48%) or decreased (1%) TSH level was found in 49% of the patients examined for thyroid functions. We suggest a regular screening of all adults with DS to diagnose early dementia, epilepsy, hypothyroidism, and early loss of visual acuity and hearing, with special attention to the group of patients who are severely to profoundly mentally retarded and those with advanced age. Cytogenetic studies are necessary to confirm the clinical diagnosis and are essential for genetic counseling purposes.

Adult↗

Corneal and lenticular opacities in mentally retarded young adults treated with thioridazine and chlorpromazine.

Of 18 mentally retarded institutionalized subjects who had received long-term, high-dose treatment primarily with thioridazine or chlorpromazine, 2 developed definite corneal and lenticular opacities and 2 had equivocal ocular changes. In view of this finding, the authors suggest that alternative treatment, including different neuroleptics, be considered with mentally retarded institutionalized subjects; when that is not possible, subjects should be given periodic evaluation, including annual slit-lamp examination.

Adolescent↗

Visual perception of human activity and gender in biological-motion displays by individuals with mental retardation.

By examining perception of biological-motion in three experiments, we investigated whether limitations in perceptual ability by individuals with mental retardation may extend to learning perceptual categories based on elements of actions. In two experiments individuals with mental retardation and age- and gender-matched controls reported gender and activity in randomly ordered point-light displays. In Experiment 2 decision times were measured and in Experiment 3, the effect of training with feedback on discriminating gender was assessed. Individuals with mental retardation identified walking, running, and stair-climbing without error but were less proficient in identifying throwing, had slower decision times for activity identification, and could not identify gender. For both groups feedback training improved gender identification in the short- and long-term. Improvements represented above-chance responding for the retarded group. Experimental outcomes are discussed in terms of capacity to classify perceptual stimuli as actions.

Adult↗

[The impact of prenatal diagnosis on the prevention of chromosomal mental retardation. Chromosomal alterations that can be detected by prenatal diagnosis].

INTRODUCTION: Recent advances in cytogenetic analysis techniques, in obstetric procedures and in ultrasonography techniques have made it possible to identify chromosome anomalies that are likely to cause mental retardation before it becomes apparent. DEVELOPMENT: Certain groups of pregnant females are clearly indicated for access to a prenatal diagnosis. An advanced childbearing age, a previous child with trisomy and the ultrasound detection of morphological anomalies in the foetus are situations that entail a significantly high risk of a foetal chromosomal anomaly. The identification of other risk factors, such as biochemical markers in maternal serum and ultrasound markers, have made it possible to select pregnant females with a higher risk for the most common chromosome anomalies, which include trisomies 21, 18 and 13, in screening programmes that can be applied to all pregnant women. Carriers of a balanced chromosome rearrangement have a clear risk of bearing offspring with a genetic imbalance, which can occasion congenital malformations and/or mental retardation, with specific problems for each type of structural anomaly. An important percentage of the chromosome anomalies that are unexpectedly detected in prenatal diagnosis offer difficulties when it comes to establishing the correlation between the karyotype and the phenotype and forecasting possible mental retardation if the pregnancy reaches full term. CONCLUSIONS: The number and variety of chromosome anomalies that can be detected prenatally shows the potential of prenatal diagnosis in the prevention of mental retardation due to chromosomal causes.

Chromosome Disorders↗

Attentional resource demands of stimulus encoding for persons with and without mental retardation.

Speed of encoding differences between individuals with and without mental retardation were examined to determine whether they stem from an automatically executed cognitive process or from encoding processes that require attentional resources. In Experiment 1, encoding functions were generated for physical identity and name identity encoding while subjects retained a full memory load or half memory load. Size of memory load influenced encoding times for all subjects. However, the pattern of group differences suggested that subjects with mental retardation allocated fewer attentional resources to encoding, even though encoding may require more of their resources for efficient execution. These conclusions were supported in Experiment 2, in which resource allocation was assessed using response times to auditory probes placed at various locations in the semantic encoding and decision task.

Adolescent↗

Altered synaptic plasticity in a mouse model of fragile X mental retardation.

Fragile X syndrome, the most common inherited form of human mental retardation, is caused by mutations of the Fmr1 gene that encodes the fragile X mental retardation protein (FMRP). Biochemical evidence indicates that FMRP binds a subset of mRNAs and acts as a regulator of translation. However, the consequences of FMRP loss on neuronal function in mammals remain unknown. Here we show that a form of protein synthesis-dependent synaptic plasticity, long-term depression triggered by activation of metabotropic glutamate receptors, is selectively enhanced in the hippocampus of mutant mice lacking FMRP. This finding indicates that FMRP plays an important functional role in regulating activity-dependent synaptic plasticity in the brain and suggests new therapeutic approaches for fragile X syndrome.

Animals↗

Helping by siblings of children with mental retardation.

Our purpose for conducting this investigation was to extend the research on the help that siblings of children with mental retardation give to their brothers and sisters to include not only custodial care, but also other forms of helping behavior, such as emotional support, tangible aid, and information giving. We compared 100 siblings (50 with and 50 without a brother or sister with mental retardation) in terms of their perceived helping behavior. Siblings of brothers and sisters with mental retardation engaged in higher levels of perceived emotional support and custodial care but not information giving or tangible aid. Perceived custodial care and emotional support were associated with gender, the child's need for assistance, and self-esteem.

Adolescent↗

Effects of parent training on families of children with mental retardation: increased burden or generalized benefit?

Parents of children with mental retardation have become increasingly involved in special education, including training programs to facilitate teaching at home. Although some writers have argued that families accrue generalized psychological benefits of such participation, others have cautioned that the result may be increasing the burden of child-rearing. Forty-nine families of children with mental retardation were assessed before and after a parent training program, on a variety of parent, marital, and family measures. Parents reported high satisfaction with the program and showed small but statistically significant decreases in reports of symptoms of depression, parent and family problems, overall family stress, and dissatisfaction with the family's adaptability. Family characteristics were also predictive of teaching at home one year following training. The families that reported doing the least productive teaching had entered training reporting greater child-related stress and lower satisfaction with the marriage and the family.

Adaptation, Psychological↗

Direct and indirect behavioral effects of different genetic disorders of mental retardation.

Direct and indirect behavioral effects of genetic disorders of mental retardation were identified. Three models of direct effects were examined: the no-specific effect model (all genetic disorders lead to identical behavioral outcomes), the totally specific model (each genetic disorder leads to unique outcomes), and the partially specific model (two or more genetic disorders lead to outcomes not shared by others with mental retardation). Although several cases of totally specific outcomes have been identified, partially specific effects most often occur. Persons in the surrounding environment are indirectly affected by behavioral propensities of different genetic disorders. Direct and indirect effects are also related to biological and developmental theory.

Behavior↗

Advantage profiles: a tool for health care professionals working with parents with mental retardation.

Health professionals concerned about the needs of parents with mental retardation are beginning to distinguish characteristics which facilitate and inhibit their parenting abilities. Child health is dependent on adequate parenting abilities. A composite of research findings has been derived to develop not only a risk profile that identifies potential problem areas, but also an advantage profile that identifies specific strengths of parents with mental retardation. The advantage profile uniquely focuses on parental assets that can be reinforced and used to foster child health.

Child↗

Gingival pigmentation as the sole presenting sign of chronic lead poisoning in a mentally retarded adult.

A diagnosis of chronic lead poisoning in a mentally retarded adult with pica was initially proposed because of the presence of a "lead line" on the patient's gingiva. The patient had no other signs or symptoms suggestive of her toxic state. Lead poisoning is reviewed from the standpoint of epidemiology, pathophysiology, clinical and oral manifestations, and diagnostic procedures. Dentists working with children or mentally retarded patients should be aware of the increased incidence of lead poisoning in these patient populations and the importance of oral findings and lead-screening techniques in the detection of lead poisoning.

Chronic Disease↗

Generalization of a sign language rehearsal strategy in mentally retarded and hearing deficient children.

Memory deficits are common in mentally retarded individuals who lack verbal skills. Training in manual signing may be of value. In this study we trained a sign language rehearsal strategy so that the strategy would be used with no instructions to perform it; and assessed whether the strategy would transfer across tasks, and how to train for transfer. Subjects were five essentially nonverbal severely mentally retarded children and three essentially nonverbal deaf children. Each was trained to use a sign-rehearsal strategy in one of two memory tasks. Use of the strategy showed marked increases when children were instructed to rehearse, but showed less change when no instructions were given. Generalization to uninstructed trials was then achieved by gradually delaying the instructions. After this training, two of three children trained in a more complex task transferred uninstructed sign-rehearsal to a less complex task, but children trained in the simpler task did not generalize to the complex task.

Adolescent↗

[Children with mild mental retardation in the special schools. "Top of the iceberg"?].

Mild mental retardation (MMR), in UK learning disabilities, is defined as an IQ in the interval between 50-70 in combination with defined adaptive criteria (ICD-10 and DSM-IV). We have analysed the prevalence, the functional assessments, associated impairments and medical aspects of the children who attended grade 1-9 in the special schools for children with mild mental retardation in the northern part of Stockholm in 2001. The prevalence was 0.4%. We assume that this prevalence represents the "top of the ice-berg", i.e., comprising those with IQ's in the lower IQ interval (IQ 50-60), since 63% of the children in this MMR-group had been diagnosed already at the time of school-start or the 3 first years at school, 76% had been medically assessed and 45% had at least one additional neuroimpairment. The "true" prevalence of MMR in this age-group is not known. Our conclusion is that we have probably identified less than half of the total group with MMR and that the unidentified group--"those who are under the surface" run the risk of never having their cognitive dysfunctions identified. MMR has wide implications for the individual in today's society. That means that there is a need of clear guidelines for diagnosis and assessments. With such guidelines and with increasing knowledge and acceptance in the society, more children and families will be offered appropriate measures and support.

Adolescent↗

Screening for subtelomeric chromosome abnormalities in children with idiopathic mental retardation using multiprobe telomeric FISH and the new MAPH telomeric assay.

Subtelomeric chromosomal abnormalities are emerging as an important cause of human genetic disorders. The scope of this investigation was to screen a selected group of children with idiopathic mental retardation for subtelomeric anomalies using the multiprobe telomeric FISH method and also to develop and test a new assay, the MAPH telomeric assay, in the same group of patients. The new MAPH telomeric assay uses the recently published MAPH methodology that permits the measurement of locus copy number by hybridisation with a specifically designed set of probes located at the end of human chromosomes. Seventy patients with idiopathic mental retardation have been screened using the established multiprobe telomeric FISH assay and the new MAPH telomeric assay, for all telomeres. One patient with de novo 8p subtelomeric deletion was identified. The new MAPH telomeric assay confirmed the same results in both normal and abnormal samples. This is the first description of the use of MAPH methodology to detect chromosomal imbalances near the telomeres in idiopathic mentally retarded patients. The new MAPH telomeric assay offers a new, fast, accurate and cost effective diagnostic tool to detect chromosomal imbalances near telomeres in mentally retarded patients, as well as the characterisation of known chromosomal abnormalities, spontaneous recurrent miscarriages, infertility, hematological malignancies, preimplantation genetic diagnosis, and other fields of clinical and research interests.

Adolescent↗

Amebiasis in institutions for the mentally retarded in Kanagawa Prefecture, Japan.

A parasitologic survey of 620 mentally retarded patients, institutionalized in five different facilities in Kanagawa Prefecture, revealed a high incidence (12.6%) of infection with Entamoeba histolytica. A concomitant serologic survey, by the indirect fluorescent antibody test, gave a much higher incidence (26.5%). Moreover, most zymodeme patterns of the amebae isolated from infected individuals were of a pathogenic type (Zymodeme II). Our findings demonstrate that the mentally retarded in Japan, as in the United States, still are plagued by a high rate of amebic infection.

Adult↗

Explanatory model to describe school district prevalence rates for mental retardation and learning disabilities.

Data reports from South Carolina's 92 independent school districts were used to calculate prevalence rates of mental retardation and learning disabilities among school-age children. These prevalence rates were 41.66/1,000 children enrolled for mental retardation and 33.21/1,000 children enrolled for learning disabilities. The 1980-1981 school year was selected because this was the last year in which disaggregated reports were submitted for placement in educable mental handicap (EMH), trainable mental handicap (TMH), and profound mental handicap (PMH) programs. Exploratory factor analysis and multiple regression analysis were used to explain school district prevalence rates of categorization of children into programs for mental retardation and learning disabilities. Results show that community SES and tax inputs explain 39% of the variation in prevalence rates and that these factors affect rates indirectly.

Adolescent↗

A decade of modern epilepsy therapy in institutionalized mentally retarded patients.

OBJECTIVE: To evaluate epilepsy therapy in an institutionalized mentally retarded (MR) population involved in a long-term program to reduce anti-epilepsy drugs. DESIGN: An open 10-year study in 244 epileptic MR patients. An interim evaluation was performed in 1987 and a final evaluation in 1991. PATIENTS: MR patients, with a history of symptomatic generalized and partial seizures, at Southside Virginia Training Center (SVTC), Virginia Department of Mental Health, Mental Retardation and Substance Abuse Services. METHODS: In 1981, an evaluation was made of the clinical condition and anti-epilepsy drug (AED) therapy for each patient. AED therapy was tapered for patients who were seizure-free, performance-impairing agents were discontinued for patients receiving polytherapy, and therapy was re-evaluated for patients with poor seizure control. Adverse drug reactions were quantitatively assessed and sedative agents reduced. The staff was educated regarding identification of seizures and adverse drug reactions. RESULTS: A 19% reduction in polytherapy was accomplished. AEDs were discontinued in 12.7% of patients, however, nearly half required reinitiation of therapy. The percentage of patients receiving monotherapy increased from 36.5% to 58.1% with no observed loss in seizure control. Administration of barbiturates was reduced and a decrease in sedation was observed. Some patients required an increase in drug dosage. The drug reductions remained successful for up to 10 years. CONCLUSIONS: Anti-epilepsy drugs for many institutionalized MR patients can be simplified from polytherapy to monotherapy without loss of seizure control and resulting in improved quality of life. A reduction in drug-related toxicities may be accomplished by removal or reduction in barbiturate use.

Adolescent↗

[Validity of care assessment in disabled and mentally retarded children].

16 children with spastic cerebral palsy and 25 mentally retarded children were assessed via the scales "Self-Care" and "Mobility" of the Pediatric Evaluation of Disability Inventory (PEDI). Age-adjusted PEDI scores were compared with the classification according to the three levels of the German statutory nursing insurance. Good correlations and highly significant dependence were found in children with spastic cerebral palsy but no dependence was seen in mentally retarded children. Apparently, assessment guidelines of the German statutory nursing insurance do not guarantee a valid assessment in all disabled children. In conclusion, future assessments of nursing needs in children should employ standardised assessment methods.

Cerebral Palsy↗