This study describes the present medical, dental and nursing services in and used by centres for intellectually and physically impaired children in Cape Town and its environs. The information was gained by means of a structured questionnaire. Thirty three of the 34 centres with a total of 3480 children are included. Twelve are Special Care Centres, 15 Training Centres and 6 are Special Schools. The number of children enrolled ranges from 9 to 400. At the time of the study 9 of the centres were for white children, 17 for coloured children, 5 for black children and 2 were multiracial. Nine of the 11 Special Care Centres were not government supported while only 6 of the other centres were mainly funded from non-government sources. Nurses employed at the centres had worked an average of 8 years at their centres, 23,5% of them having worked with disabled children prior to taking up their present posts. Of the Special Care Centres, only the two residential ones had a nurse on the staff. All the Special Schools had at least one nurse. 57,5% of the centres have a doctor or doctors visiting the centre. Two of the others have regular medical care for the children arranged with local health centres. All the Special Schools are visited while 25% of the Special Care Centres and 33% of the Training Centres receive medical visits. The number of doctors visiting a centre varies from 1 to 7. The doctors come from a variety of services both private and public. Most of the doctors do not receive remuneration for their services. Of the 1 7 centres who have no doctors visiting, the majority depend on parents to take their children to a medical facility if there are problems related to the child's disability. For 7 of them, there is no other option. A similar pattern exists for medical problems unrelated to the child's disability. Six centres make use of medical facilities as a first option in these circumstances. For emergencies only 1 centre can count on a doctor to come to the centre. Ten centres may be able to get a doctor to come. The General Hospitals are the most common facility used in an emergency. Dentists visit 4 of the centres. Twelve of the remaining 29 centres arrange regular dental visits for the children. Eleven of the 13 Special Care Centres do not have regular visits to a dentist arranged. Fifteen centres receive visits from Community Nurses and these are local authority nurses in the main. Their functions are limited in all but one case to contraception, immunisation, Heaf testing or genetic services. There are 10 centres which receive visits from neither doctor, dentist nor nurse (7 Special Care Centres, 3 Training Centres). 32% of the interviewees were satisfied with the services received. The most common improvement sought was to have a doctor visit the centre. Of those with a doctor visiting, 28% wanted the doctors to deal with intercurrent problems as well as the child's disability. The need for paramedical services was also expressed. Further detail is presented and the implications of the findings discussed.

Family life with handicapped child The main objective of this thesis is to cover the day-to-day life with mentally handicapped offspring on the threshold of adulthood from the parent's perspective. The intention is to gain an insight into experiences, emotions, and motives of disabled children's parents, for the purpose of clarifying both positive and negative points of life with the handicapped. The main goal is to focus on the following issues - which impact has this life on the parents, how their everyday life is changed, and how their attitudes and perception of themselves has been changed. Another point is to ascertain how different opinions of mothers and fathers are. The thesis consists of two main parts. In the first one, the topic is anchored in the theoretical background. This theoretical part is based on the relevant topics published in specialized reference books. In the second one, it is followed by the analysis and interpretation of two consecutive interviews with the parents. This empirical part is processed by the methods of oral history. It also contains the references to the findings published in bibliography. The conclusion contains methodology analysis and summary of key points describing the life with handicapped child. The life is considered to be psychologically, financially, and time...

Reduced activity of Fragile X mental retardation protein (FMRP) in brain neurons results in the most common form of heritable mental retardation in humans, Fragile X Syndrome (FXS). FMRP is a selective RNA-binding protein that is implicated in the translational regulation of specific mRNAs in neurons. Although very few direct targets of FMRP have been identified and verified in vivo, FXS is thought to result from the aberrant regulation of potentially hundreds of mRNAs causing defects in neuron morphology and synapse function. Identifying additional targets will be important for elucidating the mechanism of FMRP regulation as well as the etiology of FXS. Drosophila melanogaster offers a unique and powerful system for studying the function of FMRP. Flies with loss of FMRP activity have neuronal and behavioral defects similar to those observed in humans with FXS. Importantly, FMRP regulates common target mRNAs in neurons in both mice and flies. Here, I will describe our discovery of a previously unknown requirement for Drosophila FMRP (dFMRP) during the cleavage stage of early embryonic development. First, we identified a requirement for dFMRP for proper cleavage furrow formation and found that dFMRP functions to regulate the expression of specific target mRNAs during the cleavage stage. Among these is trailer hitch (tral) mRNA, which encodes a translational regulator as well, and represents a new in vivo target of dFMRP translational regulation. In addition, I have identified twenty-eight proteins that change in expression in the absence of dFMRP using a comparative proteomics based screen for dFMRP targets. One of these is the Chaperonin containing tcp-1 complex (CCT), a previously unidentified target, which I found is itself also required for cleavage furrow formation. Finally, we have identified a new dFMRP protein-binding partner, Caprin, and found that together dFMRP and Caprin are required for the proper timing of the MBT. This set of work has led to a better understanding of the mechanism of dFMRP-dependent regulation of cellular morphogenesis in early embryos and has the potential to lead to a better understanding of the etiology of FXS. / text

The purpose of this study is to investigate some teachers in special school´s perceptions of the meeting of compulsory school and special school. In this study, ethnocentrism is used as a theoretical framework, the theory which is built on the meeting between groups and how they interact. The study has a phenomenographic onset, which is a qualitative method. The gathering of data was made through interviews, one to one. Five interviews were made and analyzed by the use of phenomenographic analysis. Five categories were identified: Inclusion, commitment and interest, knowledge about special school, to be forgotten, and differences in cognitive approach. In the sample space the underlying structures was discussed by ethnocentrism, as well as previous literature and research. Some common points of contact between ethnocentrism and previous research on the meeting could be found. What the study also found was that four out of five respondents felt a sense of belonging in school, while one felt that the Special school was excluded from the regular school. The respondents could all agree on the fact that several factors affected the meeting. These five categories could be seen as areas of improvement in schools that want to work in an inclusive manner. These factors were also lifted in previous research on special school and inclusion.

The original purpose of this study was to determine if Tegretol has an effect on the impulsive behavior exhibited by people with mental retardation. This was to be accomplished through a replication of the self-control choice procedures used by Ragotzy, Blakely, and Poling (1988). The procedure involved three stages. First, subjects chose between stimuli that provided either one or three edibles. Then the stimuli associated with the smaller and larger edibles were reversed. Following this, the procedure required the implementation of successively longer delays to the larger reinforcer. However, none of the subjects who participated was able to make the discriminations necessary to proceed, i.e., the subjects did not systematically select the stimulus associated with the larger magnitude edible choice. The identification and rectification of these errors in discrimination became the focus of this study. Various procedures were used to enhance discrimination, including fading, adjusting the magnitude of the edibles, and stimulus changes. None of these changes was successful in teaching the subjects the necessary discriminations.

The primary purpose was to determine the relative effects of drive level, degree of mental retardation, and nature of reinforcer on effectiveness of operant conditioning of mentally retarded children. Embodied in the general purpose were the following sub-purposes: 1. To determine if mentally retarded subjects of differing induced drive levels (defined as satiated, nondeprived, and deprived) learn a simple discrimination problem at different rates. 2. To determine if the nature of the reinforcer (social versus material) produces different effects on performance of the task. 3. To determine the extent to which retardates of differing levels of intelligence learn the task. 4. To determine the degree of interaction among the three main treatment variables (drive level, degree of retardation, and nature of reinforcer) simultaneously.

The present sbudy is an effort to seek information from a type of organization rarely studied along the lines of employee satisfaction's correlation to job performance—a state institution for the mentally retarded—which will shed significant light on the dynamics of this question. It is unique in that it focuses closely on the specific job duties of both managerial and non-managerial employees as a basis for understanding the relationship between employee satisfaction and performance.

The major problem investigated was to ascertain the extent to which a training program designed specifically to increase frustration tolerance would reduce selected behavioral problems in institutionalized mentally retarded children. Of lesser importance was the problem of examining the extent to which the prescribed training program had differential effects on brain-injured and non-brain-injured retarded children.

The comparability of PPVT and PPVT-R scores among retarded adults were examined. The sample consisted of 96 clients, who had been previously diagnosed as mildly, moderately, or severely retarded. The PPVT (Form A) and PPVT-R (Form L) were administered to all participants in counter balanced order. Significant correlations were found between the two tests for the total sample as well as for females and males. Additionally, the PPVT-R was found to be capable of discriminating differing levels or retardation. However, with the exception of the severely retarded group, mean PPVT-R Standard Score Equivalent (SSE) scores tended to be approximately 20 points lower than PPVT IQ scores. Some clinical implications of these results were discussed.

Estudamos uma família com cinco homens (dois falecidos) afetados por deficiência mental (DM) não-sindrômica em duas gerações, num padrão de herança ligada ao cromossomo X. A análise do padrão de inativação do cromossomo X, com base na metilação do gene AR, evidenciou que a mulher portadora obrigatória tinha desvio completo de inativação nos leucócitos, uma característica freqüente em portadoras de mutações do cromossomo X relacionadas com DM. Para o mapeamento da DM, genotipamos 28 locos de microssatélites ao longo do cromossomo X e delimitamos um segmento de cerca de 32 Mb, entre os marcadores DXS986 e DXS8067, compartilhado pelos afetados e pela portadora obrigatória, mas não pelo homem normal ou pelas possíveis portadoras que não tinham desvio do padrão de inativação do cromossomo X. Na busca do gene mutado, analisamos, por seqüenciamento direto, genes mapeados no intervalo compartilhado e já relacionados a DM ou que tivessem expressão em cérebro e leucócitos. Nos afetados e na portadora obrigatória, encontramos a mutação c.845C→T no gene ACSL4, que resulta na substituição do aminoácido histidina, conservado na família de sintetases de acil-CoA humanas e em diversos outros organismos, por tirosina (p.H323Y da isoforma cérebro-específica). Tratando-se de mutação que altera um aminoácido evolutivamente conservado em gene já relacionado com DM, que segregava com a DM na família, não tendo sido encontrada em amostra controle de 160 indivíduos do sexo masculino, concluímos que era a causa da DM na família. Mutações de ponto no gene ACSL4 foram relacionadas com a DM não sindrômica em três famílias descritas na literatura. O gene ACSL4 codifica a acil-coA sintetase 4 da família das sintetases de cadeia longa, que catalisa a formação de ésteres acil-coA a partir de ácidos graxos de cadeia longa. Sua expressão já foi documentada em vários tecidos, incluindo o cérebro e dados recentes mostraram que a proteína é essencial para a formação normal de espinhos dendríticos. A nova mutação do gene ACSL4 que descrevemos como causa de DM vem reforçar a relação alterações desse gene e a DM de herança ligada ao X. O padrão de inativação do X totalmente desviado foi mais uma vez observado em mulher portadora da mutação, indicando a importância da expressão desse gene em leucócitos. A presença de dificuldades de aprendizado na portadora da mutação concorda com o observado nas três famílias da literatura em que o estudo das portadoras foi relatado, indicando o efeito de mutações do gene ACSL4 sobre a função intelectual mesmo em heterozigose. A ausência de correlação entre o padrão de inativação do cromossomo X em células do sangue periférico e o comprometimento intelectual foi confirmada. Na família estudada, a identificação da mutação permitiu o aconselhamento genético. / We studied a family with five men (two of them deceased) affected by nonsyndromic mental retardation in two generations, in a pattern of X-linked inheritance (MRX). The study aimed at identifying the causative mutation. The obligate female carrier showed completely skewed inactivation of the X chromosome, based on the methylation status of the AR gene in peripheral blood in leukocytes, a common feature in carriers of X-linked mutations that cause mental retardation. We genotyped 28 microsatellite loci mapped throughout the X chromosome and delimited a 32 Mb segment, between markers DXS986 and DXS8067, that was shared by the affected males and obligate carrier, but was not present in a normal man or in two women who did not show skewed X-inactivation. We searched for the causative mutation by sequencing genes mapped to this candidate interval that had been associated with MR and/or were expressed in brain and leukocytes. In the affected men and obligate carrier, we found a c.845C→T mutation in the ACSL4 gene, resulting in the amino acid tyrosine substituting for a histidine (p.H323Y in brain isoform), which is conserved in the acyl-CoA synthetase family in humans and others organisms. This mutation was not found in a control sample of 160 men. Previously, point mutations in the ACSL4 gene had been identified as the cause of MRX in three families. ACSL4 encodes the acyl-CoA synthetase long-chain family member 4, which catalyzes the formation of acyl-CoA esters from long-chain fatty acids. It is expressed in several tissues, and in brain it is essential for the normal formation of dendritic spines. The novel mutation here described confirmed the causal association of ACSL4 mutations with non-syndromic mental retardation. The completely skewed Xinactivation, also observed in the previously described carriers, supported a functional role for this gene in peripheral blood leukocytes. The intellectual impairment present in the carrier in the family here reported is in accordance with previous findings pointing to the effect on intellectual abilities of ACSL4 mutations in heterozygosis. The absence of correlation between the pattern of X-inactivation in leukocytes and mental status was confirmed.