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PubMed2005

[X-linked mental retardation].

X-linked mental retardation (XLMR) affects 1.8 per thousand male births and is usually categorized as "syndromic" (MRXS) or "non-specific" (MRX) forms according to the presence or absence of specific signs in addition to the MR. Up to 60 genes have been implicated in XLMR and certain mutations can alternatively lead to MRXS or MRX. Indeed the extreme phenotypic and allelic heterogeneity of XLMR makes the classification of most genes difficult. Therefore, following identification of new genes, accurate retrospective clinical evaluation of patients and their families is necessary to aid the molecular diagnosis and the classification of this heterogeneous group of disorders. Analyses of the protein products corresponding to XLMR genes show a great diversity of cellular pathways involved in MR. Common mechanisms are beginning to emerge : a first group of proteins belongs to the Rho and Rab GTPase signaling pathways involved in neuronal differentiation and synaptic plasticity and a second group is related to the regulation of gene expression. In this review, we illustrate the complexity of XLMR conditions and present recent data about the FMR1, ARX and Oligophrenin 1 genes.

Carrier State↗
PubMed1977

A comparison of three intelligence tests for the assessment of mental retardation.

Thirty-six mentally retarded adolescents were administered the Wechsler Intelligence Scale for Children (WISC), the Peabody Picture Vocabulary Test (PPVT), and the Slosson Intelligence Test (SIT) to determine reliability and comparable performance among the three intelligence tests. Correlations as a function of IQ and MA, by sex, were computed among the three tests. All were significant (p less than .01), but the WISC and SIT had consistently higher relationships than any other comparisons on both IQ and MA. Analyses also indicated that the PPVT produced higher IQ scores than the WISC or SIT and that MA in the PPVT was influenced by the previous administration of the SIT. It was concluded that, as a screening device, the SIT is more reliable and approximates WISC scores more consistently than the PPVT.

Adolescent↗
PubMed1992

Keratoconus in the mentally retarded.

Among 212 institutionalized mentally retarded, there were 16 patients with keratoconus (7.5%). Eight of the keratoconus cases were unilateral. The possible role of eye rubbing as well as other etiological factors are discussed.

Adolescent↗
PubMed1982

Surgical treatment of gastrooesophageal reflux in severely mentally retarded children.

Twenty severely mentally retarded children with significant gastrooesophageal reflux were submitted to surgical treatment. In all patients vomiting was present to a distressing degree in 5 children, 3 of whom required extensive surgery to overcome the obstruction. All had failed to respond to conservative measures. Although the postoperative complication rate was high (50%), the final result in the majority of patients was highly satisfactory.

Adolescent↗
PubMed2006

Genotype-phenotype associations for ARX gene duplication in X-linked mental retardation.

We screened 165 mentally retarded patients for ARX gene 428-451 base pair (bp) duplication. Eighteen individuals from five families were found to carry the duplication, and all had intellectual impairment. Twelve presented with focal hand dystonia, while six patients had EEG abnormalities including seizures. Other symptoms included speech difficulties (4/18), testis enlargement (4/18), lower limb spasticity or foot dystonia (4/18), and facial telangiectasia (3/18). These features confirm the pleiotropic effect of the duplication.

Adolescent↗
PubMed2001

Role of planning, attention, and simultaneous and successive cognitive processing in facial recognition in adults with mental retardation.

Fifty adults with mental retardation completed the Cognitive Assessment System and the Facial Discrimination Task. Performances on the Facial Discrimination Task Emotion and Age Tasks were significantly correlated to the Cognitive Assessment System total score. Hierarchical regression analyses showed that processing of emotional stimuli was related to simultaneous and successive processing; whereas attention and planning failed to add significantly. The Emotion and Age Tasks yielded similar results, suggesting that cognitive processes are involved in processing facial stimuli in a similar way regardless of the type of facial cues involved. The results are discussed vis-à-vis modular models of emotion, future research directions, and the Age Task as a control task.

Adult↗
PubMed1979

Comparison of McCarthy General Cognitive Indexes and Stanford-Binet IQs for educable mentally retarded children.

15 Educable Mentally Retarted children, aged 6 1/2 to 8 1/2 yr., were tested on the McCarthy Scales of Children's abilities and the Stanford-Binet (1972 norms). All children were tested over a 6-mon. period in public schools located in Northeast Georgia. Since 8 of the 15 children obtained General Cognitive Indexes below the norms presented in the McCarthy manual, extrapolated scores were assigned to increase the precision of the comparison. Although the two scores correlated significantly, the mean Index with IQ was significantly lower than the mean IQ for this sample of educable mentally retarded children. The implications of the findings were discussed.

Child↗
PubMed1992

Influence of selected reinforcers on the cardiorespiratory exercise behavior of profoundly mentally retarded youth.

6 profoundly mentally retarded youth were provided a 5-wk. stair-climbing program to improve cardiorespiratory fitness behavior. Three subjects were provided verbal plus food reinforcement and the other three received verbal reinforcement during the intervention phase. Based on the visual inspection of the data, both types of reinforcement increased the number of steps taken and exercise time.

Exercise↗
PubMed2006

[The contribution made by genetics and neurometabolic studies to the diagnosis of mental retardation].

INTRODUCTION AND DEVELOPMENT: Mental retardation (MR) is a disability that is frequently found in children and adolescents. It can be caused by a large number of factors and this makes it a serious challenge for the neuropaediatrician, who has to choose from among a wide range of complementary tests in order to be able to screen it. Diagnostic algorithms can be useful in accomplishing this objective, but they are only really valuable as a guide. Recent advances in genetic and molecular techniques have been of great use in pinpointing anomalies that conventional cytology is unable to identify. Techniques such as comparative genomic hybridisation (CGH) array analysis, multiplex ligation probe amplification (MLPA) or sequencing as well as association studies by means of single nucleotide polymorphisms stand out for their importance in the aetiological diagnosis of MR with and without syndromes. CONCLUSIONS: Some inborn errors of metabolism, such as urea cycle disorders, creatine transport deficiency, 4-hydroxybutyric aciduria, adenylosuccinate lyase deficit, Sanfilippo disease or certain congenital errors in the glycosylation of proteins may course with unspecified MR and must be taken into account in some situations. Performing a series of neurometabolic examinations in an indiscriminate manner is not indicated in evaluating MR, but can be considered in some cases of overall developmental retardation.

Adolescent↗
PubMed1990

Effects of background event rate on sustained attention of mentally retarded and nonretarded adults.

Mentally retarded and nonretarded adults performed four, 60-minute visual vigilance tests in which single digits were presented at either a fast or slow rate. The target event was a "skipped" digit. During two tests the event rate shifted without warning to the alternate event rate after 30 minutes of the vigil. Retarded observers detected fewer targets and made more false alarms than did nonretarded observers in all test conditions. Shifts in event rate influenced the frequency of false alarms made by retarded observers. The differences in performance of retarded and nonretarded adults favor a memory deficit explanation.

Adolescent↗
PubMed1986

Neuropsychiatric complications of mental retardation.

Certain aspects of mental retardation and organic brain disease are discussed: notably, psychopathology, the delayed effects of congenital infections, epilepsy, and the association between Down's syndrome and dementia.

Brain Diseases↗
PubMed1987

Comparison of two prompting procedures to facilitate skill acquisition among severely mentally retarded adolescents.

Six profoundly mentally retarded subjects were taught two tasks of comparable difficulty using different prompting procedures: an antecedent procedure, where the trainer prompted the learner prior to the subject's response and gradually faded the prompt on subsequent trials, approximating an errorless learning model, and a consequent procedure, where the trainer prompted the learner after an error response and gradually faded the prompt on subsequent corrections. Results show that greater gains were made with the antecedent prompting procedure compared to the consequent prompting procedure.

Adolescent↗
PubMed1987

Iconic memory deficit of mildly mentally retarded individuals.

Ten mildly mentally retarded, 10 equal-CA matched, and 10 equal-MA matched nonretarded subjects were required to recognize both verbal (two-letter words) and nonverbal (polygons) stimuli presented tachistoscopically. A backward visual masking paradigm utilizing both monoptic and dichoptic masking and varying stimulus onset asynchrony (SOA) was employed. The mildly retarded subjects were significantly poorer at the most advantageous (longest) SOAs. The monoptic mask was more effective than was the dichoptic mask, with the three groups demonstrating similar masking functions.

Adult↗
PubMed1985

Thyroid and vitamin-mineral supplement fail to improve IQ of mentally retarded adults.

Institutionalized profoundly mentally retarded adults (N = 37) were studied to determine whether thyroid medication is an essential component of a recently introduced nutritional supplementation treatment. Biochemical assessments confirmed that compliance with the treatments was adequate; however, no significant IQ improvements were observed.

Adult↗
PubMed1984

Behavioral treatment of psychosomatic complaints of mentally retarded adults.

Three mildly mentally retarded adults were treated for psychosomatic complaints using a multiple-baseline format across types of behavior and therapists. Also, social appropriate behavior incompatible with the target behavior was assessed. Subjects were matched on age, sex, and intellectual level with persons not considered to have this problem in order to establish the clinical significance in frequency of psychosomatic complaints. Additionally, baseline, treatment, and follow-up sessions were rated on the frequency of psychosomatic complaints by 10 adults from the community. Stomachache, headache, and multiple physical complaints were treated with a combination of token reinforcement, performance feedback, instructions, and modeling. Frequencies of the target behavior were decreased to near zero and maintained at that level during follow-up, and subjects were rated in the normal range of performance on both social validation criteria. Also, subjects' performance on adaptive behavior incompatible with psychosomatic complaints was improved.

Adult↗
PubMed1984

Vitamin-mineral supplement fails to improve IQ of mentally retarded young adults.

Twenty mentally retarded persons participated in a study to determine the effect of large doses of vitamin-mineral supplements on IQ, educability, electrophysiological responsiveness, and pyridoxine metabolism. Using a double-blind matched group experimental design, we administered supplements and placebos for 6 months. Pre- and postmeasurements showed no significant effects on any of the measured variables.

Adolescent↗
PubMed1982

Task monotony and performance efficacy of mentally retarded young adults.

Mildly mentally retarded young adults were exposed to one of three training arrangements for vigilance performance, a monitoring task that some professionals consider uniquely appropriate for such persons because they are assumed to be less susceptible to boredom. Evidence indicated that accuracy generally declines over time. Training approaches used in this study allowed component analysis of procedures used in a previous study in which accuracy did not decline. Replication of the divergent study's procedures and alternate arrangements produced the characteristic vigilance decrement that was unrelated to on-task errors but varied with certain off-task behavior. Accuracy levels mirrored the degree of tangible reinforcement but, like nonretarded observers, retarded monitors found the task boring or otherwise unrewarding.

Adult↗