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PubMed1980

Dental asymmetry and mental retardation: a comparison of subjects with mental retardation resulting from prenatal or postnatal influences.

The development of phenotypic characteristics is believed to be stabilised within certain limits of variability by processes described as canalisation or developmental homeostasis. Dental asymmetry is thought to reflect the relative success that developmental homeostasis has in countering developmental disturbances. The present study demonstrated that dental asymmetry of the permanent dentition was generally higher in non-Down retarded subjects whose mental retardation was associated with a prenatal rather than a postnatal or birth related insult. Because variations in the size and shape of teeth are generally produced during the prenatal period, the finding of increased fluctuating dental asymmetry in the group with prenatal insult supported the contention that dental asymmetry reflects the relative success that developmental homeostasis has in countering developmental disturbances.

Birth Injuries↗
PubMed1989

[The frequency of X-linked mental retardation].

600 mentally retarded children, 339 boys and 261 girls aged 5-9 years were examined. Boys to girls ratio (B:G) was found in the total group to be 1.3. Among 257 children with mental retardation of confirmed genetic origin B:G = 1.4, in 129 children with confirmed exogenous defects B:G = 1.04. The significant prevalence of boys over girls was characteristic of children with monogenic forms. The frequency of X-linked mental retardation in the total group, in all mentally retarded boys and in boys with genetic forms was 12.5 +/- 1.3%, 22.1 +/- 2.2% and 28.5 +/- 2.8%, respectively. The frequency of X-linked mental retardation was higher in boys with genetic forms of imbecility.

Child↗
PubMedDate not supplied

Validity of the schizophrenia diagnosis of the psychopathology instrument for mentally retarded adults (PIMRA): a comparison of schizophrenic patients with and without mental retardation.

The Psychopathology Instrument for Mentally Retarded Adults (PIMRA) was designed to assess psychiatric disorders among mildly and moderately mentally retarded persons. In a psychiatric population without mental retardation (n = 53), the PIMRA schizophrenia scale had an internal consistency coefficient alpha = 0.52. By removing one outlier item this increased to alpha = 0.61. By comparing the PIMRA schizophrenia diagnoses with DSM-III-R diagnoses in the psychiatric population, we found an external reliability corresponding to phi = 0.47 and an unweighted kappa = 0.43. Weighting of the mistakes resulted in a weighted kappa (w) = 0.74. A regression analysis of DSM-III-R diagnosis based on the PIMRA items was conducted. The regression equation was able to identify 75.5% of the DSM-III-R schizophrenic disorders in the psychiatric population. This equation correctly identified 75.5% of the PIMRA schizophrenias in a mentally retarded population. The intermethod reliability was phi = 0.49. We also compared the 38 psychiatric patients with DSM-III-R schizophrenic disorder with the 48 mentally retarded patients with PIMRA schizophrenic disorder. The mentally retarded patients had less delusions and more incoherence and flat affect. They also used less neuroleptic drugs.

Adolescent↗
PubMed1999

Sleep abnormalities in mentally retarded autistic subjects: Down's syndrome with mental retardation and normal subjects.

We compared sleep parameters in mentally retarded infantile autism (MRIA) and mentally retarded Down's syndrome (MRDS) by means of polysomnography, evaluating traditional analysis with particular attention to the phasic components in each disorder. Data were compared with those obtained in normal subjects matched for age and sex. Mental age, Intellectual Quotient and the Childhood Autism Rating Scale were performed to obtain an estimation of the neuropsychological deficit. Abnormalities of phasic components of sleep and the presence of REM sleep components into non-REM sleep were observed in both MRIA and MRDS even if in different ways. In fact, MRDS subjects presented a reduction of REM sleep percentage and R index (number of high frequency REMs against number of low frequency REMs) and this was positively correlated to a low IQ. Unlike MRDS subjects, MRIA subjects did not show any parallelism between intellectual abilities and REM sleep deficit. In addition, the presence of undifferentiated sleep in autistic subjects implies a maturational deficit that is still present in adulthood. Finally, a high R index in MRIA was observed. This finding, which is not present in MRDS, could represent an estimation of the disorganized arrival of information caused by a dyscontrol or a reduction of inhibitor pathway. With reference to sleep mechanisms, our results suggest that the cognitive deficit in MRIA may differ from that of MRDS subjects. A maturational deficit of CNS with a dysfunction of brainstem monoaminergic neurons could represent the underlying mechanism.

Adolescent↗
PubMed1991

[Causes of death among mentally retarded. Naerlandheimen Central Institution for the Mentally Retarded].

At Naerlandheimen Central Institution for mentally retarded a retrospective enquiry was conducted into causes of death. The enquiry included 186 deaths during the period from 1948 to January 1, 1990. The average age of deceased persons was 37.9 years. In approximately 40% of the cases infections were stated as the cause of death. All in all 32.5% of deaths were due to infections of the respiratory system, and diseases of the central nervous system constituted 8.9%. Cancer and coronary heart diseases, which dominate the statistics of causes of death in the average population, constituted respectively only 2.4% and 4.1% of the deaths.

Adolescent↗
PubMed2006

MLPA analysis for a panel of syndromes with mental retardation reveals imbalances in 5.8% of patients with mental retardation and dysmorphic features, including duplications of the Sotos syndrome and Williams-Beuren syndrome regions.

MLPA analysis for a panel of syndromes with mental retardation (MRS-MLPA) was used for investigation of 258 mentally retarded and dysmorphic patients with normal conventional karyotypes (P064 probe set, MRC-Holland, for detection of (micro)deletions associated with 1p36-deletion, Sotos, Williams-Beuren, Prader-Willi, Angelman, Miller-Dieker, Smith-Magenis, and 22q11-deletion syndromes). Patients were initially referred for HR-CGH analysis and MRS-MLPA was performed retrospectively. MRS-MLPA analysis revealed imbalances in 15/258 patients (5.8%). Ten deletions were identified, including deletions of 1p36, 5q35 (Sotos syndrome), 7q11 (Williams-Beuren syndrome), 17p11 (Smith-Magenis syndrome), 15q11 (Angelman syndrome) and 22q11. Duplications were detected in 5q35, 7q11, 17p13, 17p11 and 22q11. We reviewed another 170 patients referred specifically for MRS-MLPA analysis. Eighty of these patients were referred with a clinical suspicion of a specific syndrome, which was confirmed in 17 patients (21.3%). The remaining 90 patients were referred because of mental retardation and dysmorphism but without suspicion of a specific syndrome. Seven imbalances, including four duplications, were detected in these 90 patients (7.8%). Clinical data regarding three patients investigated by MRS-MLPA are presented. The imbalances carried by these patients include a small interstitial 1p36 deletion, a small duplication of 5q35 (encompassing the NSD1 gene, which is deleted/mutated in Sotos syndrome) and a duplication of 7q11 (reciprocal of the Williams-Beuren syndrome deletion), respectively. MRS-MLPA allows testing for a number of micro-deletions/-duplications in a single experiment, thereby filling a gap between array techniques and single locus techniques. MRS-MLPA combined with Subtelomeric MLPA represents an attractive first test in a clinical algorithm for mental retardation.

Adult↗
PubMed1994

Investigations of mental health of school teachers for the mentally retarded and staff members in social welfare facilities for the mentally retarded: using a Japanese version of the General Health Questionnaire (GHQ).

The mental health of 70 school teachers for the mentally retarded, 60 direct care staff in social welfare facilities for the mentally retarded, 124 nurses and 369 general office workers was investigated by means of General Health Questionnaire (GHQ). The results were: 1) The incidence of mental unhealthiness was 44.6% among staff serving the mentally retarded, tending to be higher than among nurses, and significantly higher than among general office workers. 2) Among staff serving the mentally retarded, females tended to be more mentally unhealthy than males; among school teachers for the mentally retarded, the incidence among females was significantly higher than among males. 3) As to the incidence by age and experience, among staff serving the mentally retarded, the younger the age and the shorter the experience, the higher the incidence of mental unhealthiness.

Adult↗
PubMed1982

Fragile X-linked mental retardation. A survey of 65 patients with mental retardation of unknown origin.

Fragile X-linked mental retardation is a recently described entity that includes a chromosomal fragile site at Xq28 and macro-orchidism. We studied 50 institutionalized males and 15 noninstitutionalized males and found six (9.2%) with this disorder. Their clinical findings include enlarged testicular volumes, low IQs (30 to 40), perseverative speech patterns, and characteristic facial features, including prominent supraorbital ridges, prognathism, and large ears. We recommend cytogenetic studies for both males and females with mental retardation of unknown origin in order to establish early diagnoses and to extend proper genetic counseling to the affected families.

Adolescent↗
PubMedDate not supplied

Dysmorphology and mental retardation: molecular cytogenetic studies in dysmorphic mentally retarded patients.

In an institutionalised population of 471 mentally retarded adult residents (436 males and 35 females), 18 patients (16 males and 2 females) with dysmorphic features were selected to perform FISH studies by using subtelomeric probes to discover cryptic terminal deletions or duplications, undetectable with standard banding techniques. In the 13 investigated patients, no abnormalities were found with a selected battery of subtelomeric probes. The results of cryptic chromosomal rearrangement studies are variable but the frequency of positive diagnostic findings seems to be lower than previously expected.

Adolescent↗
PubMed2000

Complete skipping of exon 66 due to novel mutations of the dystrophin gene was identified in two Japanese families of Duchenne muscular dystrophy with severe mental retardation.

Severe mental retardation is a rare complication of Duchenne muscular dystrophy (DMD). Here we report that two DMD cases showing severe mental retardation exhibit the same exon skipping event induced by different intron mutations. In the two Japanese DMD patients studied, the complete sequence of exon 66 of the dystrophin gene was found to be absent from the dystrophin mRNA, creating a premature stop codon in exon 67. Novel point mutations at the consensus sequence of the splice donor site of intron 66 (T9857(+2) to C in one case and G9857(+5) to T in the other case) were found to be the cause of complete exon skipping. Remarkably, severe mental retardation cosegregated with an exon 66-skipping event in their families. Furthermore, pachygyria was disclosed by magnetic resonance imaging (MRI) examination of the brain of one case. Our results suggested that exon 66 skipping should be examined in DMD cases with a severe form of mental retardation.

Adult↗
PubMed1985

Inability to cope with environmental stress: peptic ulcers in mentally retarded persons.

Mentally retarded persons in the protective environment of an institution developed more peptic ulcers than the general population. We sought to determine whether their physical and mental handicaps may have a relationship to this disease. Thirty seven mentally retarded institutionalized ulcer patients were compared to 37 non-ulcer controls matched for age and sex, who were also similar in IQ and mental retardation diagnoses. A stepwise discriminant analysis demonstrated that the ulcer group was more limited by chronic diseases and inability to ambulate. Also differentiating the groups were ulcer patients having more cerebral palsy, more visual deficit, and more limited motor and sphincter control than non-ulcer subjects. We conclude that helplessness in responding to environmental demands produces stress sufficient to induce peptic ulcers, even in severely mentally retarded persons.

Adolescent↗
PubMed2002

Social adjustment in children with Down mental retardation (MRD) and Fragile-X mental retardation (MRX).

BACKGROUND: Since adjustment abilities became important in mental retardation (MR) diagnosis, it seemed interesting to study social adjustment in persons with MR Down (RMD) and MR Fragile-X (RMX). These two syndromes are the most common causes of MR of chromosomal origin. To evaluate the influence of temperament insofar as behavior and temperament are concerned in social adjustment, we studied temperamental dimensions (emotionality, activity, sociability and shyness) and social functioning (attention problems and withdrawal). METHODS: Our study group was composed of 35 children with MR; 23 with RMD (F=14) age range 4 to 21, and 12 (F=1) with RMX age ranged from 5 to 19. #Social adjustment was evaluated by two scales: EAS and CBCL. RESULTS: The six evaluated dimensions of adjustment functioning (emotionality, activity, sociability, shyness, attention problems and withdrawal) differ in the two MRD and MRX groups. MRX scores are all higher except for sociability; shyness, attention problems and emotionality show a significant difference. CONCLUSIONS: The RMX group is that one may have more difficulty in social adjustment. This is because they are characterized by hyperactivity, withdrawal, low attention, low social function and high emotionality that are all negative symptoms for a social adjustment. In our study group MRD have higher values in the sociability area and they don't show relevant behavioral disorders and they have got more adaptive abilities. We may hypothesize that this attitude is a part of their genetic structure, and also that the best social adjustment of Down persons may be linked to a better interaction with the environment.

Adolescent↗
PubMed1996

Rapid Cycling Disorders in Mentally Retarded Children.

Mentally retarded children and adolescents not infrequently develop affective disorders, including a pattern of rapid cycling bipolar disorder. From work with nonretarded adults this pattern is known to have a tendency to chronicity and treatment resistance. Among persons with mental retardation, such a pattern is often marked by periods of severe overexcitation and underexcitation, often producing serious caretaking stress. Generally, it has been difficult to make this diagnosis in persons with severe to profound mental retardation and other severe disabilities, and it is probably often missed. However, knowing which questions to ask may facilitate diagnosis. It is our hypothesis that a positive family history of affective disorder in the presence of brain dysfunction increases the risk of rapid cycling affective disorder. Treatment results so far are limited to case reports and open trials. Much more research needs to be done to identify predictors of bipolar disorder and rapid cycling, the extent to which findings from studies of adults without mental retardation apply, and the most effective methods of treatment.

Journal Article↗
PubMed1995

Influence of mental retardation severity and respondent characteristics on self-reported attitudes toward mental retardation and eugenics.

Eugenics refers to the investigation of means of social control to improve the mental or physical qualities of future generations. The present study investigated whether the self-reported attitudes toward mental retardation and eugenics of a sample of 572 respondents would vary as a function of (I) severity of the mental retardation attitude referent; and (2) respondent sociodemographic characteristics. Among the respondents, 380 were health and human service providers (66% upper division undergraduate students and 34% graduate level professionals) and 192 were upper division undergraduate students majoring in fields other than health and human services. The results supported these conclusions: (1) psychometric characteristics of the scales used to measure attitudes were adequate; (2) increasing mental retardation severity was related to increasing endorsement of eugenic principles, independent of global attitudes toward people with mental retardation; and (3) respondent education was related to the expression of eugenic attitudes toward mild mental retardation, while familiarity with people with mental retardation was related to the expression of eugenic attitudes toward moderate and profound mental retardation.

Activities of Daily Living↗
PubMed1993

[Mental retardation and sexual abuse. 65 mentally retarded men submitted to forensic psychiatric examination because of sex offences].

65 mentally impaired men charged with different sexual crimes were submitted to judicial psychiatric examination. 37% of these men had previously stayed in institutions for the mentally impaired, two thirds had worked for a period. Half of the charged men were functionally retarded and the rest were assessed as functioning at an even lower level. Approximately every third man suffered from serious behavioural symptoms and personality disturbances. Most of the abuse was towards acquaintances or persons in the local environment. Almost half of the men used violence in connection with the abuse. Two thirds of the victims were under the age of 16 years. About half of the men were charged with sexual abuse of minors, and a few with rape. The majority were charged, and almost half were placed under preventive detention.

Adolescent↗
PubMed1992

Clinical assessment of psychiatric symptoms in mentally retarded individuals.

Mentally retarded Australians with emotional and behavioural disorders are seriously under-served by psychiatrists, despite such individuals being as prevalent as those with schizophrenia. These disorders have serious consequences for the individual, family and carers, and the community as a whole. In the psychiatric assessment of mentally retarded persons, a key principle is that while intellectual handicap increases vulnerability to psychiatric illness, it does not of itself cause psychopathology. A biopsychosocial framework provides a model whereby those factors which are contributing to psychopathology can be systematically elucidated. Biological factors include brain pathology associated with particular mental retardation syndromes, drug side-effects and epilepsy. Psychological factors include temperament, a history of abuse, and current life stresses. Social factors include distortions in family roles and hostel or workshop conflicts. Although clinical assessment can be challenging, and confident syndrome diagnosis is not always possible, a systematic approach to the analysis of symptoms will provide a guide to useful interventions.

Humans↗