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Written lists as mediating stimuli in the matching-to-sample performances of individuals with mental retardation.

Students with mental retardation learned to write lists in order to perform a matching task that they could not do otherwise. After an initial assessment phase, reinforcement was arranged in the computerized tasks to follow selection of the six pictures that were identical to those in the six-picture samples presented. In Study 1, even though the participants wrote a list of the names of the six sample pictures on each trial, read a list, or did both, they often made errors when a brief delay preceded picture selection. In contrast, performance was nearly perfect when a list was written, read, and remained available at the time of picture selection, suggesting that the list served to mediate the delays. Study 2 examined the stimulus control by two- and six-picture samples over the list writing. Early during testing, 1 participant refrained from writing lists on two-picture trials but wrote lists on six-picture trials, thereby maximizing reinforcement and minimizing its delay; the other participant showed this pattern of list writing after supplemental training. The studies suggest methods for establishing a rudimentary repertoire of mediating behavior that has relevance for teaching instruction-following skills in natural settings.

Achievement↗

18q- and 18q+ mosaicism in a mentally retarded boy.

A mentally retarded boy was found to have an unusual chromosomal mosaicism [46,XY, del(18) (q22)/46,XY,iso psu dic(18)(q23)]. The clinical manifestations are compatible with the 18q- syndrome. The chromosome alteration was defined by high resolution banding and fluorescence in situ hybridization (FISH). A mechanism to explain the origin of the two cell lines is presented and discussed.

Abnormalities, Multiple↗

Sex effect on the risk of mental retardation.

Risks of mental retardation were computed separately for the relatives of male and female probands. When compared, the risks for the relatives of females were always significantly higher than the risks for the relatives of males. These findings are consistent with the hypothesis of a differential genetic loading for males and females.

Female↗

Biochemical investigations on a patient with a defect in cytosolic acetoacetyl-CoA thiolase, associated with mental retardation.

A severely mentally retarded boy with two normal siblings was persistently found to excrete elevated amounts of 3-hydroxybutyrate and acetoacetate. Enzyme analysis in cultured fibroblasts revealed a probable deficiency in cytosolic acetoacetyl-CoA thiolase which was about half the control activity with normal mitochondrial thiolase activities. Treatment with reduced dietary fat was initiated and a rapid reduction of the ketosis to biochemical normality was demonstrated. Shortly after initiating dietary treatment he presented with severe gastrointestinal problems and the histological features of colitis cystica superficialis. This appeared to respond to intravenous hydrocortisone therapy with an apparent complete recovery.

Acetyl-CoA C-Acetyltransferase↗

Vasotocin improves intelligence and attention in mentally retarded children.

In mentally retarded (MR) prepubertal children, investigated both before and after six months of treatment, synthetic arginine vasotocin (AVT) (10(-6) mg/day/0.1 ml, intranasally), but not oxytocin or saline alone, significantly increased the intelligence quotient (IQ) and improved the attention parameters without affecting the short-term memory. Taking into account both the psychometric results and the clinical observations, the effects of AVT could be mainly explained by assuming the improvement of attention. Since there was a significant inverse correlation between the pretreatment levels of the IQ and attention scores and their increase after AVT, and since the AVT effects tend to be more intense in autistic children, we hypothesize that the more affected the attention mechanisms, the more they are sensitive to AVT. The present results are tentatively explained by the paradoxical sleep-enhancing properties of AVT, mechanisms by which AVT could improve the brain plasticity in MR subjects and by this, the attention performance.

Attention↗

Neuropeptide MSH/ACTH 4-10 enhances attention in the mentally retarded.

Twenty adult mentally retarded men were randomly assigned to receive MSH/ACTH 4-10 or a vehicle control solution in a double blind procedure. After an intravenous injection the subjects were presented with an orienting sequence and a series of behavioral tests. Treatment with the peptide resulted in a significant decelerative heart rate response during the test stimulus of the orienting sequence. Improved performance of the intradimensional and extradimensional shift of a visual discrimination procedure was significant for subjects receiving MSH/ACTH 4-10. The pattern of response on the subproblem analysis of the extradimensional shift reflected greater dimensional attention in the subjects treated with the peptide. Attentive subjects given MSH/ACTH 4-10 evidenced significant improvement on a rhythm matching test, a test of spatial localization and a visual retention test. The data were interpreted as indicating that the peptide resulted in improved attention of stimulus processing. It was speculated that MSH/ACTH 4-10 may be unquely coded for perceptor/attentional functioning and may be useful as a treatment for disorders of attention.

Adrenocorticotropic Hormone↗

Simulation procedures for teaching independent menstrual care to mentally retarded persons.

Four mentally retarded adolescent females participated in a program for assessment and training of independent menstrual care skills. Three task analyses served as the basis for instruction: (a) menstrual stain on underwear, (b) menstrual stain on a sanitary pad, and (c) menstrual stain on both sanitary pad and underwear. During individual training sessions, subjects were taught to perform correct sequences via simulation training with a small doll, in which a trainer utilized instructions, praise, modeling, and corrective feedback. Three types of assessment probes were conducted prior to training, upon completion of specified mastery criteria, and during post-training follow-up sessions. Doll probes assessed performance with the toy doll, self-probes assessed naturalistic performance but under conditions of simulated menstruation, and in vivo probes assessed performance during actual menstruation. Results of a multiple baseline analysis indicated that subjects emitted few correct responses during baseline probes, but showed consistent improvements that corresponded to the introduction of training. Generalization to untrained skills was noted with all subjects. Follow-up assessments indicated maintenance of skills for periods up to 30 weeks following termination of training.

Activities of Daily Living↗

MENTOR: a Bayesian Model for prediction of mental retardation in newborns.

Mental retardation (MR) is a diagnosis that is made with extreme caution because of the many uncertainties in its etiology and prognosis. In fact, most physicians will delay the diagnosis for months or years so that substantial evidence is available to rule the diagnosis in or out. MENTOR is a Bayesian Model for the prediction of MR in newborns that provides probabilities for the full range of cognitive outcomes, ranging from MR to superior intelligence. Using the model to confirm clinical judgment could help physicians decide when to proceed with diagnostic tests. The physician and family could discuss the probabilities for MR, borderline, normal, and superior intelligence, given the child's status in infancy and base their decision about additional testing, in part, on this information.

Adolescent↗

Deleted ring chromosome 22 in a mentally retarded boy.

A mentally retarded boy with a ring chromosome 22, where most of band q13 was deleted, is reported. The fact that the leucocyte beta-galactosidase and alpha-galactosidase B activities were normal, but the arylsulphatase A activity only half of the normal is consistent with a gene dosage effect and that the arylsulphatase A locus is located more distally, than the gene loci for the other two enzymes, in the deleted part of 22q13.

Adolescent↗

Behavioural symptoms and autistic psychosis in the mentally retarded adult.

302 mentally retarded (MR) adults, representative of the total Danish MR population, were examined with regard to behavioural symptoms and psychiatric disorder. Deviant behaviour was found in 123 (41%) and was correlated to origin and degree of retardation, epilepsy and place of living. The distribution of the symptoms strongly indicates that organic brain damage is the major etiological cause. By grouping behavioural symptoms on three axes: A: social withdrawal (27%), B: abnormal bodily movements and sensory stimulation (22%) and C: conduct behaviour (17%), different patterns of abnormal behaviour were demonstrated. Behavioural symptoms occurred in 74 (87%) of 85 persons given present state psychiatric diagnoses. Behavioural symptoms are prominent in the group of autistic psychosis (childhood autism), which is classified by the triad of 1) autism, 2) abnormal language, and 3) stereotypic behaviour. This diagnosis was established in 23 (7.6%), and differences in psychopathology are basically determined by degree of intellectual resources, with the subgroup of Kanner's early childhood autism constituting the upper level.

Adult↗

Inherited partial X chromosome duplication in a mentally retarded male.

A mentally retarded male patient with a structurally abnormal X chromosome is reported (karyotype 46, dir dup (X)(p11.2 leads to p21.2)Y). In the normal mother a similar X chromosome duplication was found, which was preferentially inactivated. Xg blood groups were studied in the family. The findings indicated that recombination took place at maternal meiosis, as both karyotypically normal sons and the proband were Xg(a-), the mother being Xg(a+). Functional X chromosome disomy may explain clinical abnormalities in reported patients with X duplication and a normal Y chromosome.

Adult↗

Disruption of a new X linked gene highly expressed in brain in a family with two mentally retarded males.

BACKGROUND: Mental retardation (MR) affects 2-3% of the human population and some of these cases are genetically determined. Although several genes responsible for MR have been identified, many cases have still not been explained. METHODS: We have identified a pericentric inversion of the X chromosome inv(X)(p22.3;q13.2) segregating in a family where two male carriers have severe MR while female carriers are not affected. RESULTS: The molecular characterisation of this inversion led us to identify two new genes which are disrupted by the breakpoints: KIAA2022 in Xq13.2 and P2RY8 in Xp22.3. These genes were not previously fully characterised in humans. KIAA2022 encodes a protein which lacks significant homology to any other known protein and is highly expressed in the brain. P2RY8 is a member of the purine nucleotide G-protein coupled receptor gene family. It is located in the pseudo-autosomal region of the X chromosome and is not expressed in brain. CONCLUSIONS: Because the haploinsufficiency of P2RY8 in carrier mothers does not have a phenotypic consequence, we propose that the severe MR of the affected males in this family is due to the absence of the KIAA2022 gene product. However, screening 20 probands from X linked MR families did not reveal mutations in KIAA2022. Nonetheless, the high expression of this gene in fetal brain and in the adult cerebral cortex could be consistent with a role in brain development and/or cognitive function.

Adult↗

Effect of typicality level on proactive inhibition in adults with mental retardation.

Adults with mental retardation heard four triads of highly typical, atypical, or unrelated words (Experiment 1, proactive inhibition buildup) and three triads of typical, atypical, or unrelated words, shifting to either typical or atypical words (Experiment 2, inhibition release). Our purpose was to examine the structure of their semantic system and determine whether they encode information in semantic memory on the dimensions of item prototypicality and list organization. No list differences occurred in Experiment 1. Apparently, interference effects inhibited encoding by organization and typicality. Amount of release varied as a function of item typicality and list organization (Experiment 2), demonstrating multidimensional encoding in semantic memory.

Adult↗

Comparison of tangibly reinforced speech-reception and pure-tone thresholds of mentally retarded children.

Sixteen mentally retarded children who had normal hearing were examined with two tests of auditory sensitivity. One procedure employed a tangibly reinforced operant-conditioning paradigm for pure tones, and the other test was based on a modification of operant conditioning for obtaining speech-reception thresholds. The speech procedure, utilizing an attractive mechanical device in the form of a clown, proved to be effective and efficient for use with retarded children.

Acoustic Stimulation↗

Effects of deinstitutionalization on adaptive behavior of mentally retarded adults.

Twenty mentally retarded clients were moved from a large developmental center to three small community residences. Their functional abilities were measured at 0, 4, 8, and 12 months. Consistent improvement was found for language development, domestic activity, responsibility, and social interaction. Findings from this and other "deinstitutionalization" studies were synthesized. Results suggested that the improvement in functioning represents a manifestation of behavior already in the clients' repertoire rather than new learning. The need for systematic programming to promote learning, both in the community and institution, was emphasized.

Adolescent↗