In order to assess the liability of proprioceptive information, an experiment on kinaesthetic after-effects was carried out. Matched groups of severely subnormal and Down's syndrome subjects were compared with normal children of either the same chronological or the same mental age. No difference was found between the normal and the severely subnormal children, but the magnitude of the after-effect measures in Down's syndrome children suggests that asymmetrical pointing produced kinaesthetic after-effects which disrupted these subjects' total frame of spatial reference.
ABSTRACT. Microcephaly is a clinical sign rather than a nosological entity. It may even represent the extreme of normal variation. In pathological cases, it is always caused by an interruption of the neurobiologic processes of induction and cellular migration, or by a catastrophic insult to the central nervous system. The prime cause of this may be environmental or genetic. There is strong evidence for genetic heterogeneity, even among cases of ‘true’ or ‘primary’ microcephaly. Various taxonomies for the classification of microcephaly are discussed, taking into account environmental causation and various genetic mechanisms.
Journal of Intellectual Disability ResearchVolume 27, Issue 3 p. 237-238 Behavioural dimensions of the de Lange syndrome: attribution of mystique and a question of cause and effect N. N. SINGH, N. N. SINGH Department of Psychology, University of Canterbury, Christchurch, New ZealandSearch for more papers by this author N. N. SINGH, N. N. SINGH Department of Psychology, University of Canterbury, Christchurch, New ZealandSearch for more papers by this author First published: September 1983 https://doi.org/10.1111/j.1365-2788.1983.tb00295.xAboutPDF ToolsRequest permissionExport citationAdd to favoritesTrack citation ShareShare Give accessShare full text accessShare full-text accessPlease review our Terms and Conditions of Use and check box below to share full-text version of article.I have read and accept the Wiley Online Library Terms and Conditions of UseShareable LinkUse the link below to share a full-text version of this article with your friends and colleagues. Learn more.Copy URL Share a linkShare onFacebookTwitterLinkedInRedditWechat Volume27, Issue3September 1983Pages 237-238 RelatedInformation
The body mass index (BMI) was calculated at the age of 20 for all the 132 survivors (83%) out of the 159 mentally retarded individuals born in 1966 in Northern Finland. Reliable information was acquired for 112 cases (84.8%). The mean BMI for these cases did not deviate significantly from that for an average Finnish population at age 20-29 years. It was found that 41.5% of the slightly retarded cases (IQ 35-70) and 28.6% of the seriously retarded ones (IQ less than 35) were of ideal weight (BMI 20-24), while 9.8% of all the retarded individuals were moderately obese (BMI greater than 30) and 7.1% seriously so (BMI greater than or equal to 32). Ninety-one per cent of the seriously obese cases lived with their parents and did not participate in any occupational therapy or work. A total of 29.5% of the mentally retarded subjects were underweight (BMI less than 20), a condition which would seem to be above all a problem for seriously retarded individuals and an obvious consequence of the different feeding and dietary problems connected with their multiple disabilities.
The case of two children with Down's syndrome and multiple cerebral infarction on CT scan are described. Angiography revealed advanced moyamoya disease.
The probands of this study were 60 children and young adults between 5 and 20 years of age, 20 of whom had siblings with autism, 20 of whom had siblings with mental retardation, and 20 of whom had siblings who were free of handicap. The three proband groups were matched for gender, birth order and socioeconomic status. The children were questioned about their sibling relationships and about particular problems they faced concerning their handicapped brothers or sisters and about problems concerning themselves. Parents were interviewed about the healthy child's behaviour and social adjustment. Mothers completed the Eysenck Personality Inventory concerning themselves. Siblings of handicapped children and especially siblings of children with autism were more concerned about the future. They also felt lonely more often and many of them had peer problems. They often regarded their handicapped siblings as a burden. They tended to have only one sibling. Siblings often did not know why their handicapped brother or sister was different from other children. There were more behaviour disturbances in the siblings of handicapped children and mothers with a child with autism reported more 'stressful events'. There were no differences as regards the personality of the mothers and the self-concept of the children between the three groups.
The aim of this study was to determine biological responses in Down's syndrome subjects for an incremental exercise lasting 10 min. After a training programme specially adapted for children and adolescents with mental handicaps, 11 healthy Down's syndrome subjects, seven boys and four girls aged from 15 to 20 years, performed a progressive exercise until exhaustion on an ergometric bicycle. The results were compared with those taken from the literature for similar aged normal subjects. The results in our series of Down's syndrome subjects showed: (a) no differences in haematologic parameters, except for a high concentration of uric acid at rest which did not increase after the test; (b) a lower blood lactate level than in maximal exercise for this age range; (c) a late mobilization of FFA; and (d) a slightly lower maximal value of catecholamines. These results may suggest a reduced sympathetic response to maximal exercise.
Pharmacokinetic properties and efficacy of a conventional (C) carbamazepine (CBZ) preparation divided into three daily doses and a slow-release CBZ preparation (SR) divided into two daily doses were evaluated in a randomized, double-blind, cross-over study. The trial started with a 8-week baseline period followed by the two treatment periods each 10 weeks long. At the end of each period, a 24-h blood sample series for determination of serum CBZ and carbamazepine-10,11-epoxide (CBZE) was collected. The occurrence of seizures was monitored day and night during the whole study period by experienced nurses. The mean age of the 20 evaluable patients was 24.9 and the duration of epilepsy 19.2 and carbamazepine treatment 7.0 years. The bioavailability of CBZ from the two preparations was similar. The mean fluctuation of serum CBZ concentration (Cmax-Cmin/Css) was 16% smaller during SR. The mean serum CBZ concentration in the morning samples was significantly (P less than 0.001) higher during SR treatment. The mean total number of seizures was approximately four per week and did not differ between the two treatments, but during the last 2 weeks of the study period the occurrence of seizures was significantly smaller during SR (P = 0.02).
An index of self-sufficiency in children with Down's syndrome was developed for use in a study of the process of adaptation in families living in the Greater Manchester area. The children were 6-14 years old, and living at home. Index scores were based on the mothers' responses to a questionnaire covering their children's personal and domestic functioning and community self-sufficiency, and were obtained from 111 of the 117 mothers who took part in the study. A wide range of child- and family-related variables were found to be significantly associated with self-sufficiency scores on a univariate level. Multiple regression analysis was used to identify those variables which best predicted the level of self-sufficiency achieved. After the child's mental age, the most significant variables were excitability, behaviour problems, the extent the mother used practical means of coping, and the level of social activity experienced by the child. Together, these five variables explained 63% of the variance in self-sufficiency scores. The dynamics by which such factors may relate to self-sufficiency in children with Down's syndrome are discussed, and intervention aimed at promoting the use of practical ways of coping by parents is suggested.
Consanguinity among parents as a cause of mental retardation in their children is debatable. The present study was conducted to find out the effect of consanguinity on mental retardation where the causative factor is not established. A total of 517 mentally retarded persons and their families were studied out of which 160 were born of consanguineous marriage and 357 were of non-consanguineous marriage. The results indicated that, when there is a history of mental retardation in the family and if the parents are consanguineously married, the risk of mental retardation in the offspring is significantly high (chi 2 = 11.52; P less than 0.001). Among the consanguineously married families, the blood relationship of uncle-niece seems to have the highest risk of affecting the offsprings. The implications are discussed in detail.
The concentrations of B6 vitamins, and the activities of pyridoxal kinase, pyridoxamine phosphate oxidase and pyridoxal phosphate phosphatase were measured in tongue. Pyridoxal kinase activity was significantly greater (P less than 0.01) in Down's syndrome subjects compared with controls.
This paper describes an evaluation study of a home-based, family-focussed counselling scheme providing support for English-speaking and Bangladeshi families of children with intellectual or multiple disabilities. Mothers and children in the intervention groups showed significant and positive changes compared to randomly allocated controls. The greatest benefits were derived by the more deprived and initially less well-supported Bangladeshi families. Mothers changed positively in ratings of perceived support and family functioning, and in their constructions of their child, themselves, husbands and family relationships. Although systematic teaching was not included, their children also showed improvements in developmental progress and behaviour problems.
This article explores the psychometric properties (reliabilities, standard deviations and measurement errors) of Wechsler Adult Intelligence Scale--Revised (Wechsler, 1981) subtest difference scores. The sample consisted of 290 subjects with IQ less than 80. Results demonstrated less than satisfactory difference score reliability and disproportionate measurement error. Nevertheless, neither property was so inadequate as to render cautious profile interpretation impossible. The tabled values can help clinicians working with developmentally delayed clients interpret differences between subtest scores based on statistically reliable discrepancies.
The authors further describe investigations of a family originally reported by Bundey & Smyth in 1974 with a diagnosis of the Smith-Lemli-Opitz syndrome. Chromosome studies performed for the fourth time revealed that the mother had a presumptive t(4;22) translocation. The importance of reviewing earlier diagnoses, including repeating the chromosome studies if indicated, in order to arrive at a more accurate diagnosis is stressed. It is also important to provide the cytogenetics laboratory with clues to any possible clinically-recognisable chromosome syndrome, and to be prepared to examine the chromosomes of the parents of the affected case, even if the patient's karyotype appears normal. In this particular family, the correct diagnosis in the affected girls led to a realization that their brother had a 50% risk of producing unbalanced offspring.
Two patients, a boy and a girl, with growth delay, mental retardation and mild dysmorphism due to a de novo terminal 10q deletion are described. A recognizable facial appearance with a prominent nose and dysplastic ears was present. Specific attention is given to the developmental and behavioural data of the children. A review is made of the psychologic data of the 18 earlier reported surviving cases.
Chromosome analyses were performed on 52 mildly mentally retarded adults and a control group representing the non-retarded population. Chromosomal aberrations were found in 19.2% of the mentally retarded and in 1.9% of the controls. The aberrations in the retarded group consisted of trisomy 21, fragile-X, sex-chromosome aberrations and balanced translocations. The index group included a man with a fragile site Xp22.1. The aberration in the control group consisted of a karyotype with an extra marker chromosome.
The Pethna toy is a recently developed toy designed for people with severe and profound mental handicaps. It delivers sensory consequences for the use of simple manipulanda. Two experimental studies evaluated the Pethna toy by monitoring changes in multiple, collateral behaviours. Experiment I demonstrated statistically significant decreases in turn away and stereotyped behaviour and increases in smiling. Experiment II demonstrated highly idiosyncratic changes in collateral behaviours in three adults with multiple handicaps. In all cases, turn away decreased. The role of response-response relationship, subject attention and relationship of sensory behaviours to stereotypies are discussed.
A case of rapid cycling bipolar disorder in a person with Down's syndrome, responsive to divalproex sodium, a valproic acid derivative, is presented. This case and three other reported cases of mania in association with Down's syndrome suggest that this chromosomal disorder does not preclude the development of mania.
