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PubMed2000

Detection of cytomegalovirus in urine of hearing-impaired and mentally retarded children by PCR and cell culture.

This study was carried out to determine the prevalence of cytomegalovirus (CMV) excretion in urine among 30 deaf children and 91 mentally retarded children by cell culture and PCR. As a control, urine samples from 121 children without hearing disability or mental retardation were also tested. The study revealed that 15 of 30 (50%) deaf children and 16 of 91 (17.6%) mentally retarded children were excreting CMV in their urine. Among the control group we observed that only 2 of the 121 (1.8%) children were CMV excretors. As CMV excretion in urine is generally considered to indicate a congenital infection, it is very likely that congenital CMV is highly incriminated in mental retardation and deafness among children in Mauritius.

Child↗

PubMed2006

[Attention deficit hyperactivity disorder and mental retardation].

INTRODUCTION: Attention deficit hyperactivity disorder (ADHD) is a common condition in children with mental retardation (MR), with a prevalence rate of between 4 and 15%. It is therefore necessary to examine the epidemiological characteristics of neurodevelopmental disorders in patients with MR, evaluate diagnostic protocols and especially update the pharmacological treatment of ADHD in children with MR. DEVELOPMENT: The study of ADHD in patients with mild mental retardation is no different to that carried out in children without MR. No neuropsychological instruments are available to measure the executive functions properly in patients with severe mental retardation. Neuroleptic and psychostimulant agents are the two groups of drugs that are most commonly used to treat behavioural problems in children with MR. Methylphenidate is effective in three quarters of the children with MR at preschool ages. It has proved to be effective in the clinical profiles and in psychometric studies. Other forms of treatment, such as clonidine or fenfluramine, have also proved to be effective to a certain extent in patients with MR, especially in the clinical setting. CONCLUSIONS: ADHD is more frequent in patients with MR than in the general population. The diagnostic methodology is usually the same as that used in patients without MR. Stimulation treatment is the most specifically indicated for the treatment of attentional and behavioural problems in these children.

Attention Deficit Disorder with Hyperactivity↗

PubMed2004

Neuroimaging in mental retardation.

OBJECTIVE: To determine the diagnostic yield of neuroimaging in a cohort of children with mental retardation of unknown origin. METHODS: Neuroimaging was performed in a total of 47 patients with developmental delay/mental retardation, where no etiologic diagnosis could be made following clinical examination and preliminary investigations. RESULTS: Thirty (63.82%) children had abnormal neuroimaging findings of which 19 (42.42%) were specific abnormalities useful in arriving at etiological diagnosis. Positive outcome of neuroimaging increased with the severity of mental retardation and in presence of microcephaly and neurologic deficits other than mental retardation. CONCLUSION: Neuroimaging should be the standard clinical practice for a child with global developmental delay where no cause is apparent after examination and relevant investigations.

Adolescent↗

PubMed1987

Pseudodementia in the mentally retarded. A case report and review.

Intellectual and behavioral deterioration in an individual who is mentally retarded presents a diagnostic challenge to the clinician, since the deterioration may be the result of the primary disorder or a new process. The mentally retarded individual's limitations in communication make the diagnostic assessment more difficult. The authors report the case of pseudodementia in a mentally retarded teenager presumed to have been caused by impacted otic cerumen and corrected by removal of the cerumen. The discussion includes a review of medical, neurologic, psychiatric, and environmental causes of intellectual and behavioral deterioration.

Adolescent↗

PubMed1986

[Mental retardation and X chromosome fragility].

In four families with mental retardation as cardinal sign, authors found 11 cases of fragile chromosome X, 8 males (most with severe mental deficiency), and 3 females (mothers of affected children). Association of behavior perturbation as uneasiness, and hyperkinesia; facial dysmorphism as long or triangular face, big ears and macroorchidism, postpubertal in most of the cases, allow for clinical diagnosis. Autistic behavior is a suspicion sign too. Authors point out the necessity of a precocious diagnosis in order to treat patients with folic acid and to extend genetic counseling to the families. Prenatal identification is possible and inheritance mode in uncertain, debating recessive form linked to chromosome X and autosomic dominant controlled by sex. Incidence of 1.8/1,000 in newborn males, convert this specific form as the most frequent cause of mental retardation in this sex.

Chromosome Fragility↗

PubMed1963

CHILDHOOD PSYCHOSIS OR MENTAL RETARDATION: A DIAGNOSTIC DILEMMA. I. PSYCHIATRIC AND PSYCHOLOGICAL ASPECTS.

A relatively large percentage of children seen at a mental retardation clinic demonstrated psychotic symptoms. The entire group with psychotic manifestations, 62 in all, were reviewed in order to clarify the diagnosis of childhood psychosis or mental retardation. The 1961 British criteria for childhood psychosis were used and are advocated by the authors. Childhood psychosis was the primary diagnosis in 38 cases, and psychosis secondary to brain damage in 24 cases. Onset of the condition under the age of three years and a poor prognosis for social recovery were characteristic of the entire group.Obvious emotional disorder was present in 21 mothers and 14 fathers. There was a continuum in terms of number of psychotic symptoms, level of intelligence and presence of organic signs. It is concluded that there is an overlap between the entities of childhood psychosis and mental retardation.

Adolescent↗

PubMed1991

Validation of the parenting style survey for parents of children with mental retardation.

A validation study was performed in order to assess the content, construct, and criterion-related validities of the Parenting Style Survey, an instrument assessing parental behavior in families with a child who has mental retardation. Subjects were the primary careproviders of 29 individuals with moderate mental retardation. Data corroborating the validity of the Parenting Style Survey were derived from home visits, individuals experienced in developmental psychology, careproviders for individuals with mental retardation, and the Family Environment Scale (Moos, 1974). The Parenting Style Survey is a reliable and valid measure of parenting behaviors for individuals who have a child with mental retardation living at home.

Adaptation, Psychological↗

PubMed1994

New X-linked mental retardation (XLMR) syndrome with distinct facial appearance and growth retardation.

We report on 2 brothers and their nephew with an apparently new X-linked mental retardation (XLMR) syndrome characterized by a distinct facial appearance, growth retardation, and severe mental retardation. The facial traits included triangular shape; bifrontal narrowness; malar flatness; blepharophimosis; very deeply set eyes; epicanthus inversus; bulbous nose; low hairline; low-set, deeply cupped, and protruding ears; short ill-defined philtrum; and thin tented upper lip. These facial anomalies are particularly striking and recognizable even at birth. The boys were small for gestational age and remained below -2 SD in growth parameters. With age, large joint contractures developed. Pectus excavatum was apparent at birth but became more obvious with age. Global developmental delay was evident in infancy. The brothers were nonverbal while their nephew spoke simple words. Optic atrophy, esotropia, nystagmus, and spastic diplegia were evident. They were self-abusive, hyperactive, and poorly coordinated. CT scans demonstrated atrophic hydrocephalus. No EEG abnormalities were detected. Karyotypes were 46,XY and fragile X negative. Routine chemistries; amino, organic, and uronic acids; oligosaccharides; lysosomal enzymes; and very long chain fatty acids were normal. Remarkable phenotypic similarity between these brothers and their nephew and lack of manifestations in their mothers makes X-linked recessive inheritance likely. This syndrome, which does not appear to have been reported previously, adds to the delineation of XLMR.

Abnormalities, Multiple↗

PubMed1996

Substituting traditional antipsychotics with risperidone for individuals with mental retardation.

The use of risperidone for 10 individuals with mental retardation and mental health disturbances was reported. A case study approach was employed to delineate the course of substitution of more traditional antipsychotic medications with risperidone. At the conclusion of the study, 6 of the 10 individuals had completed the substitution protocol. All participants evidenced improvement or resolution in side effects attributed to previous antipsychotic medication, with no worsening in psychiatric or behavioral status.

Adult↗

PubMed1998

Stopping antiepileptic therapy in mentally-retarded, epileptic children.

It has, increasingly, become the practice to withdraw antiepileptic drugs (AEDs) in epileptic patients, who have been seizure-free for two years. However, the presence of mental retardation is frequently considered to be a markedly adverse factor for stopping treatment. Many physicians are loth to phase out AEDs in mentally retarded patients. In this study, 29 well-controlled epileptic, mentally-retarded children had their AEDs withdrawn. Seventeen have remained well and 12 have relapsed. IQ, neurological findings, EEGs, types of epilepsy, frequency of attacks, age of onset, duration of the active disease and the fit-free period, and antiepileptic drug (AED) levels did not predict the outcome. It is suggested that consideration be given to withdrawing AEDs from well-controlled, mentally-retarded, epileptic children.

Anticonvulsants↗

PubMed1994

Personal independence of adult mentally retarded men with fragile-X syndrome.

In a large study of the psychosocial functioning of mentally retarded adults with fra(X) syndrome we also evaluated their personal independence. 58 mentally retarded adult men with a cytogenetically confirmed diagnosis of fra(X) syndrome and 58 fra(X) negative control persons with a comparable age, level of cognitive development, actual living conditions and length of institutionalization were evaluated with three Dutch standardized behavioral scales. In spite of comparable social competency scores in both research groups, two significant different aspects were found: 1) Fra(X) men obtained a higher level of elementary knowledge and skillfulness in rudimentary dealing with personal needs and household tasks in daily life in comparison with the control group; 2) moderately mentally retarded fra(X) adults were practising more preacademic reading, calculating and writing skills in daily life than control persons.

Activities of Daily Living↗

PubMed1988

Urinary levels of biogenic amine metabolites in mentally retarded children.

Urinary total catecholamines, their metabolites and metabolite of serotonin were estimated in 32 mentally retarded children and 15 controls. Levels of total catecholamines. MHPG and 5-HIAA were not significantly different from controls. However, the mean VMA and HVA excretion in mentally retarded children was significantly increased compared to the control group. It is concluded that an altered metabolism of dopamine is involved in mental retardation.

Adolescent↗

PubMed2004

Monogenic X-linked mental retardation: is it as frequent as currently estimated? The paradox of the ARX (Aristaless X) mutations.

Mental retardation affects 30 to 50% more males than females, and X-linked mental retardation (XLMR) is thought to account for the major part of this sex bias. Nonsyndromic XLMR is very heterogeneous, with more than 15 genes identified to date, each of them accounting for a very small proportion of nonsyndromic families. The Aristaless X (ARX) gene is an exception since it was found mutated in 11 of 136 such families, with a highly recurrent mutation (dup24) leading to an expansion of a polyalanine tract in the protein. The rather high frequency of dup24 reported in families with clear X-linked MR (6.6%) contrasts with the very low prevalence of this mutation observed in sporadic male MR (0.13%). We conclude that monogenic XLMR has much lower prevalence in male MR (< 10%) than the 23% that would be required to account for a 30% male excess of mental retardation.

Chromosomes, Human, X↗

PubMed2000

[Adult Hirschsprung's disease with mental retardation and microcephaly].

Hirschsprung's disease occurs rarely and sporadically in adult, involving males. In cases, which are manifested perinatally, the so called Hirschsprung-associated congenital anomalies (mainly central nervous system, urogenital and cardiovascular) may present (2-21%), which have not observed in adult. Mental retardation and Hirschsprung's disease more frequently are associated with Down syndrome (5-10%). The discoveries of molecular genetics in the last 4-5-years through the examination of transgenic ("knockout") mice, proved the basic role the mutation of 4 genes: the RET (receptor tyrosin kinase), a proto-oncogene, coding its ligand, the glial cell-line derived neutrophic factor (GDNF), the gene of the endothelin-B receptor (ENDRB) and the gene one of its ligand, the endothelin-3 (EDN3), in the pathogenesis of Hirschsprung's disease. In our case, the short segment Hirschsprung's disease caused respiratory and cardiac failure, which was recognized by autopsy. Besides, the severe mental retardation, the role of the long term use of antipsychotic medicines comes up in the prolongation and masking of the symptoms. The accompanied mental retardation and microcephalia in early childhood are known, which are associated anomalies with Hirschsprung's disease. In cases of Hirschsprung diseases at adults, no other associated congenital anomalies has been published. The mental retardation in Down-syndrome, in association with Hirschsprung's disease (and presumable in our case, too) is supposed to be the consequence of the mutation in the gene of GDNF. In this case, we observed, that the so called short segment H-d was accompanied at a 33 years old men patient with mental retardation (who was originated from a gypsy ethnic minority), because of it the connection of the nurses and the patient was disturbed and the main symptom of the H-d (chronic obstipation) remained hidden. The mechanic ileus was going on behind the scenes, and in addition to the cardiac failure caused the death of the patient. Practical conclusion of the case is that, Hirschsprung's disease should be suspected in all adult patients, who had severe obstipation persisting since childhood, especially in males.

Adult↗

PubMed1994

[The new role of psychiatry in the management of mentally retarded patients].

The areas of remedial education and special education have profoundly changed the psychiatric care of mentally retarded persons. Desinstitutionalisation, normalisation and integration are widely recognised concepts today and have since gained relatively substantial empirical support. Definition of these concepts has been broadened to include consideration of the optimal management of environmental conditions as an integral part of the comprehensive living environment. The systemic-ecological approach dislodges psychiatry from its central position in the treatment of the mentally ill retarded, and invests a greater degree of trust in remedial educations and special education. Effective treatment thus involves a joint effort on the part of various mental health professionals working towards a common goal, grounded on the coexistence of mental retardation and mental illness. Psychotherapy should be devised so as to address cognitive deficits no longer considered to be contraindicative to the therapy process. The purpose of pharmacotherapy is to finetune psychotropic medication with pedagogical, psychoeducational and psychotherapeutic methods. Although community-based mental health delivery systems and comprehensive (institutional based) services both show promise for the care and treatment of mentally retarded persons there is evidence for the particular viability of the latter model due to prevailing present conditions and to the aspect of cost effectiveness, particularly due to its utility in promoting still acquisition relevant to workers in this field of mental health.

Activities of Daily Living↗

PubMed1992

Repair behaviors of children with and without mental retardation.

Repair behaviors (a speaker's attempts to make a message understood when the listener indicates a breakdown in communication has occurred) of children with and without mental retardation, ages 8 to 13, were compared as they responded to stacked sequences of requests for clarification (the child's response to a request for clarification is followed by a second and then a third request for clarification). A picture description task with a barrier between the child and examiner was the repair-evoking context. Significant differences were observed in the use of repairs by the two groups. Children with mental retardation did not respond as often as did the children without mental retardation, who also more frequently used details to expand their utterances. Differences were also observed as the request sequence progressed. Evaluation of repair behaviors of children with mental retardation may provide direction for the development of conversational skills.

Adolescent↗

PubMed1982

Research on imitation in mentally retarded persons: theory-bound or ecological validity run amuck?

Research on imitation in mentally retarded persons was examined to assess whether the bulk of the research had been aimed at theory confirmation and/or was ecologically valid. Sixty-seven studies, mostly published between 1975 and 1980, were reviewed within the framework of the Yando, Seitz, and Zigler (1978) two-factor developmental theory of imitation. It was concluded that most of the research on imitation in mentally retarded persons was not theoretical, but was ecologically valid. The failure of a dominant theoretical framework has led to a lack of systematic and programmatic effort, thus hampering the applied potential of modeling and imitation in the education and training of mentally retarded individuals.

Cognition↗

PubMed2005

An 8q21 deletion in a patient with comorbid psychosis and mental retardation.

Systematic investigations indicate that some of the recognized psychiatric disorders can be identified among those with mental retardation due to chromosomal abnormalities. We report a psychotic patient with mild mental retardation (intelligence quotient: 68) and minor anomalies that had a chromosomal aberration not previously described in a psychotic patient. Our patient highlights the importance of the cytogenetic study in psychiatric patients with comorbid mental retardation or minor anomalies. In addition, her psychosis symptoms may be helpful to propose a new candidate gene for psychosis.

Adult↗