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PubMed2005

[Genetic causes of mental retardation].

Mental retardation (MR) is defined as congenital or early onset lifelong impairment of cognitive and adaptive functioning (IQ < 70). It effects approximately 3% of the Western population. The causes are heterogenous. Numerical or structural chromosome abnormalities are responsible for 10-20% of the mild cases (MMR) and 40% of the severe cases (SMR). Among them Down syndrome represents the most frequent chromosome aberration and the most frequent defined MR syndrome. Gonosomal aberrations do not coincide with MR, as long as only one gonosome is lost or gained. Nearly all unbalanced structural autosomal aberrations cause SMR. Recent studies suggested that sub-microscopic chromosomal microdeletions or subtelomeric rearrangements account for approximately 10% of the undiagnosed cases. They represent a group of newly defined disorders. Single gene mutations are responsible for > 1200 known syndromal conditions with MR. But only few causative genes have been identified as yet. However, an increasing number of genes causing X-linked mental retardation (XLMR) have been localized and cloned, namely 38 genes of the 136 known syndromic conditions and 19 for the non-syndromic conditions. XLMR explains the 20 % excess of males over females. Despite the increasing knowledge about the causes of MR, about half of the cases remain undiagnosed. Guidelines for the diagnostic procedure in children with MR have been proposed.

Adolescent↗
PubMed2006

Mutations and novel polymorphisms in coding regions and UTRs of CDK5R1 and OMG genes in patients with non-syndromic mental retardation.

Mental retardation (MR) is displayed by 57% of NF1 patients with microdeletion syndrome as a result of 17q11.2 region haploinsufficiency. We considered the cyclin-dependent kinase 5 regulatory subunit 1 (CDK5R1) and oligodendrocyte-myelin glycoprotein (OMG) genes, mapping in the NF1 microdeleted region, as candidate genes for MR susceptibility. CDK5R1 encodes for a neurone-specific activator of cyclin-dependent kinase 5 (CDK5) involved in neuronal migration during central nervous system development. OMG encodes for an inhibitor of neurite outgrowth by the binding to the Nogo-66 receptor (RTN4R). CDK5R1 and OMG genes are characterized by large 3' and 5' untranslated regions (UTRs), where we predict the presence of several transcription/translation regulatory elements. We screened 100 unrelated Italian patients affected by unspecific MR for mutations in CDK5R1 and OMG coding regions and in their 3' or 5' UTRs. Four novel mutations and two novel polymorphisms for CDK5R1 and three novel mutations for OMG were detected, including two missense changes (c.323C>T; A108V in CDK5R1 and c.1222A>G; T408A in OMG), one synonymous codon variant (c.532C>T; L178L in CDK5R1), four variants in CDK5R1 3'UTR and two changes in OMG 5'UTR. All the mutations were absent in 370 chromosomes from normal subjects. The allelic frequencies of the two novel polymorphisms in CDK5R1 3'UTR were established in both 185 normal and 100 mentally retarded subjects. Prediction of mRNA and protein secondary structures revealed that two changes lead to putative structural alterations in the mutated c.2254C>G CDK5R1 3'UTR and in OMG T408A gene product.

Adolescent↗
PubMed1988

Perceptions of mental retardation and mental illness.

College undergraduates were asked the degree to which they believed certain behaviors and characteristics are present in mentally retarded and mentally ill persons. Comparisons of responses showed that subjects clearly differentiated the concepts, although several areas overlapped. Mental retardation was characterized by physical stigmata and brain damage, developmental delays, and cognitive deficits; mental illness, by emotional lability due to environmental, hereditary, or mixed factors. How knowledge of people's perceptions of these disorders is essential for a more complete understanding of reactions to group homes, mainstreaming, and other "normalized" placements was discussed.

Adult↗
PubMedDate not supplied

Soles of the Feet: a mindfulness-based self-control intervention for aggression by an individual with mild mental retardation and mental illness.

Uncontrolled low frequency, high intensity aggressive behavior is often a barrier to community living for individuals with developmental disabilities. Aggressive behaviors are typically treated with psychotropic medication, behavioral interventions or their combination; but often the behaviors persist at a level that is problematic for the individual as well as care providers. We developed a mindfulness-based, self-control strategy for an adult with mental retardation and mental illness whose aggression had precluded successful community placement. He was taught a simple meditation technique that required him to shift his attention and awareness from the anger-producing situation to a neutral point on his body, the soles of his feet. After practice he applied this technique fairly consistently in situations that would normally have elicited an aggressive response from him. The data show that he increased self-control over his aggressive behaviors, met the community provider's requirement for 6 months of aggression-free behavior in the inpatient facility before being transitioned to the community, and then successfully lived in the community without readmission to a facility. No aggressive behavior was seen during the 1-year follow-up after his community placement. Mindfulness-based intervention may offer a viable alternative to traditional interventions currently being used to treat behavioral challenges in children and adults with mild mental retardation.

Adult↗
PubMed1989

Delivery of services in rural settings to the elderly mentally retarded-mentally ill.

A number of controversial arguments exist regarding the ability of sparsely populated areas to adequately provide for their elderly mentally retarded; the elements of distance, education, and capital are said to effectively obstruct access to psychiatric and social support. Yet several facts speak soundly for the necessity to overcome these obstacles: a five-fold increase in the life spans of the mentally retarded in recent decades, and the amply demonstrated reality that individuals with mental retardation are nearly twice as likely as the general population to develop severe behavioral disorders. This article examines both the methods and the reasons for ensuring that rural populations of elderly mentally retarded citizens receive modern psychiatric assistance and community support.

Aged↗
PubMed1994

Introduction to special section: mental retardation and mental illness.

Historically, the perceived relation between mental illness and mental retardation has undergone substantial changes. During the past 2 centuries, clinical observations and systematic research addressing these 2 constructs have developed along separate lines. Consequently, the pathogenesis and treatment of psychopathology, emotional disorders, and behavior problems experienced by individuals with mental retardation have not been the purview of mainstream clinical psychology. This article initiates a special section on mental retardation and mental illness to provide up-to-date summaries of various key clinical and research issues regarding this population (i.e., individuals with "dual diagnoses").

Comorbidity↗
PubMed1987

Mild mental retardation and severe mental retardation compared: experiences in eight less developed countries.

Frequencies of Severe Mental Retardation (SMR) and Mild Mental Retardation (MMR) were obtained from pilot surveys of severe childhood disability in 8 less developed countries. Approximately 1,000 children aged 3 to 9 years were surveyed in each location. The surveys used a Ten Question (TQ) door-to-door interview, usually of the mother, as a screening procedure and a systematic medical and psychological assessment for the diagnosis. Diagnostic categories of SMR (IQ less than or equal to 55) and MMR (IQ greater than 55, less than or equal to 70) were assigned by well trained local psychologists, using formal and informal techniques of assessment. Contrasting frequencies and distributions for MMR compared with SMR are shown for each location. No consistent pattern for MMR versus SMR emerged, neither regarding frequency, male/female ratio, average age nor socio-economic status of household. By contrast, MMR did differ from SMR consistently regarding consanguinity of parents, the presence of associated impairments and the positive report of symptoms at interview. Also, the families of all MR children were lower in SES than comparison families. An interpretation of these findings is offered: the more severely disabled children tend to be assessed as SMR, but so do other children who might, in better circumstances, be assessed as MMR. The relevance of this interpretation is discussed, in terms of assessment and of rehabilitation, and as a guide to further epidemiologic studies.

Asia, Southeastern↗
PubMed1982

Prevention of mental retardation.

Mental retardation is a very important health problem since it affects approximately 3% of the population. Prevention should begin by public education and complemented by measures taken during the preconceptional, the prenatal, the perinatal and the postnatal periods. Health and family planning, recognition of "at risk" situations, genetic counseling, prenatal care, antenatal diagnosis, neonatal screening and pediatric care are just a few of the preventive actions to safe-guard the birth of normal children and secure normal mental development.

Adult↗
PubMed2003

Mental retardation.

Mental retardation (MR) occurs in 2-3% of the general population. Prevalence of milder MR is seven to ten times more than severe MR. Cause of severe MR can be determined in 60-70% of cases, as compared to mild MR where 35-55% remain idiopathic. The diagnostic process is aided considerably if the timing of a developmental insult can be determined: prenatal, periatal, postnatal (not mutually exclusive). History plays a pivotal role in approaching a diagnosis. After clinical evaluation one should be able to assess whether the disorder is static or progressive; approximate developmental quotient; possible timing of insult and possible underlying genetic etiology. Investigations should be based on history and physical examination. The important category of tests include: thyroid function tests, cytogenetic studies, metabolic work-up, fragile-X screening, radiological investigations, electrophysiological studies and specific tests according to the suspected diagnosis. Having an etiological explanation aids in the development of a specific treatment plan; helps families understand prognosis and recurrence risk and on the community level assists in the development of preventive strategies.

Child↗
PubMed2006

Genetics and pathophysiology of mental retardation.

Mental retardation (MR) is defined as an overall intelligence quotient lower than 70, associated with functional deficit in adaptive behavior, such as daily-living skills, social skills and communication. Affecting 1-3% of the population and resulting from extraordinary heterogeneous environmental, chromosomal and monogenic causes, MR represents one of the most difficult challenges faced today by clinician and geneticists. Detailed analysis of the Online Mendelian Inheritance in Man database and literature searches revealed more than a thousand entries for MR, and more than 290 genes involved in clinical phenotypes or syndromes, metabolic or neurological disorders characterized by MR. We estimate that many more MR genes remain to be identified. The purpose of this review is to provide an overview on the remarkable progress achieved over the last decade in delineating genetic causes of MR, and to highlight the emerging biological and cellular processes and pathways underlying pathogeneses of human cognitive disorders.

Chromosomes, Human↗
PubMed2005

Diagnostic genome profiling in mental retardation.

Mental retardation (MR) occurs in 2%-3% of the general population. Conventional karyotyping has a resolution of 5-10 million bases and detects chromosomal alterations in approximately 5% of individuals with unexplained MR. The frequency of smaller submicroscopic chromosomal alterations in these patients is unknown. Novel molecular karyotyping methods, such as array-based comparative genomic hybridization (array CGH), can detect submicroscopic chromosome alterations at a resolution of 100 kb. In this study, 100 patients with unexplained MR were analyzed using array CGH for DNA copy-number changes by use of a novel tiling-resolution genomewide microarray containing 32,447 bacterial artificial clones. Alterations were validated by fluorescence in situ hybridization and/or multiplex ligation-dependent probe amplification, and parents were tested to determine de novo occurrence. Reproducible DNA copy-number changes were present in 97% of patients. The majority of these alterations were inherited from phenotypically normal parents, which reflects normal large-scale copy-number variation. In 10% of the patients, de novo alterations considered to be clinically relevant were found: seven deletions and three duplications. These alterations varied in size from 540 kb to 12 Mb and were scattered throughout the genome. Our results indicate that the diagnostic yield of this approach in the general population of patients with MR is at least twice as high as that of standard GTG-banded karyotyping.

Adolescent↗
PubMed2004

Genome-wide screening using automated fluorescent genotyping to detect cryptic cytogenetic abnormalities in children with idiopathic syndromic mental retardation.

Mental retardation (MR) is the most common developmental disability, affecting approximately 2% of the population. The causes of MR are diverse and poorly understood, but chromosomal rearrangements account for 4-28% of cases, and duplications/deletions smaller than 5 Mb are known to cause syndromic MR. We have previously developed a strategy based on automated fluorescent microsatellite genotyping to test for telomere integrity. This strategy detected about 10% of cryptic subtelomeric rearrangements in patients with idiopathic syndromic MR. Because telomere screening is a first step toward the goal of analyzing the entire genome for chromosomal rearrangements in MR, we have extended our strategy to 400 markers evenly distributed along the chromosomes to detect interstitial anomalies. Among 97 individuals tested, three anomalies were found: two deletions (one in three siblings) and one parental disomy. These results emphasize the value of a genome-wide microsatellite scan for the detection of interstitial aberrations and demonstrate that automated genotyping is a sensitive method that not only detects small interstitial rearrangements and their parental origin but also provides a unique opportunity to detect uniparental disomies. This study will hopefully contribute to the delineation of new contiguous gene syndromes and the identification of new imprinted regions.

Child↗
PubMed2002

Rational evaluation of the adolescent with mental retardation.

Mental retardation in adolescents presents multiple challenges. Among these is the frequent lack of an accurate etiologic diagnosis. Retarded youngsters may enter adolescence without an established diagnosis; in many, no attempt at diagnosis has been made. The diagnostic approach is often more difficult in adolescents than in younger children because of the effects of age on physical features and changes in the family structure. Despite these challenges, advances in cytogenetic technology, cranial imaging, and molecular diagnostics offer patients and families real hope that a diagnosis can be achieved, even when previous attempts have failed. This chapter discusses the benefits and yield of such evaluations. The appropriate clinical and laboratory diagnostic evaluations are discussed with attention to the indications for chromosomal analyses, molecular testing, cranial imaging, and targeted metabolic testing.

Adolescent↗
PubMed1997

Cigarette smoking among patients with mental retardation and mental illness.

Among 136 adults with mental illness and mental retardation who were consecutively treated at a developmental disabilities clinic, 25 reported that they currently smoked cigarettes. Among those with mild and borderline retardation, smoking rates were 30 and 37 percent, respectively. Smokers were significantly more likely than nonsmokers to drink alcohol, use other drugs, and be sexually active. Multiple regression analysis found that a mild or borderline level of retardation and a diagnosis of schizophrenia were significant predictors of smoking. Mentally retarded persons with mental illness are at risk of tobacco-related disease and may benefit from prevention and smoking cessation interventions.

Adolescent↗
PubMed1982

Mortality risks of mentally retarded and mentally ill patients after a feeding gastrostomy.

Feeding gastrostomy procedures were performed on 9 mentally ill and 30 mentally retarded, institutionalized patients. The postoperative mortality was 0 percent (0/9) for the mentally ill and 13 percent (4/30) for the mentally retarded patients. Mortality within 1 year after the operation was 11 percent (1/9) for the mentally ill and 33 percent (10/30) for the retarded patients. This study revealed three important factors that affect mortality risks: the identification and elimination of a gastroesophageal reflux before surgery, the monitoring and improvement of the nutritional status both before and after surgery, and the evaluation and treatment of respiratory problems both before and after surgery. If care in these areas is improved, then the mortality risks for retarded patients will decrease.

Adolescent↗
PubMed1994

Community-based behavioral training approaches for people with mental retardation and mental illness.

Challenges associated with behavioral training approaches for individuals with mental retardation and mental illness in the community are reviewed in this article. Family and nonfamily facilitated training are considered. Professional practice issues are reviewed, and justification for multifactor behavioral assessment is offered. Future research directions are discussed.

Behavior Therapy↗
PubMed2005

A comparison of the Aberrant Behavior Checklist and the GAF among adults with mental retardation and mental illness.

Psychiatric assessment among individuals with a diagnosis of both mental retardation and mental illness presents a clinical challenge. This retrospective study compared two rating scales--the Aberrant Behavior Checklist (ABC) and the Global Assessment of Functioning (GAF)--to determine the scales' utility in a partial hospital setting. Although ABC and GAF ratings were weakly correlated, the ABC revealed symptom patterns consistent with recognizable features of psychiatric syndromes and differential improvement in symptoms within and between diagnostic subgroups. The ABC provided a more useful measure of treatment response than the GAF in this patient population.

Adult↗