L’autisme et la déficience mentale sont deux syndromes neuro-développementaux impliquant des facteurs génétiques. Notre travail a consisté à rechercher de nouveaux gènes candidats ou facteurs de susceptibilité chez 106 patients atteints d’autisme et 68 de déficience mentale non syndromique sporadique.Nous avons observé une association entre l’allèle 4 d’un marqueur microsatellite GXAlu localisé en 17q11.2 dans l’intron 27b du gène NF1 et des patients atteints de déficience mentale non-syndromique.Nous avons contribué à la mise en évidence d’une augmentation d’expression du transcrit NLGN4X, chez un patient autiste avec un retard mental non-syndromique présentant une mutation dans le promoteur du gène NLGN4X.L’étude de la région 22q13 par MLPA, nous a permis de mettre en évidence une délétion de novo d’au moins 1Mb chez un patient autiste.Les variations de nombre de copies (CNV) ont été étudiées chez des autistes par QPCR. Nous avons identifié 27 variations réparties sur 17 gènes parmi les 36 explorés. Les CNV observés dans les gènes ITGA6, TAGLN3, HOXA1, DLG4 et UBE2C sont intéressants en raison de l’implication de ces gènes dans le développement cérébral ou la fonction neuronale.L’ensemble de ces résultats nécessite des expériences complémentaires de validation. / Autism and mental retardation are two neurodevelopmental syndromes involving genetic factors. Our work consists in finding new candidate genes or susceptibility factors. 106 autistic patients and 68 sporadic non-syndromic mentally retardated patients were studied.We have shown an association between allele 4 of a microsatellite marker GXAlu locasized in 17q11.2, in intron 27b of the NF1 gene and patients with non-syndromic mental retardation.We contributed to the study on the NLGN4X gene. We demonstrated an increase of expression of NLGN4X transcript, in an autistic patient with non-syndromic mental retardation linked to a mutation in the NLGN4X gene promoter.We study the 22q13 region with MLPA method, we have demonstrated a deletion de novo of at least 1Mb in an autistic patient.The copy number variations (CNV) have been investigated in an autistic population by QPCR. We identified 27 variations on 17 genes among the 36 investigated. The CNV observed in ITGA6, TAGLN3, HOXA1, DLG4 and UBE2C genes are interesting because of the involvement of these genes in brain development or neuronal function.These results require further experiments for validation.

The goal of community placement for people with developmental disabilities is to enable them to live productively and independently. However, the very routines followed at programs and facilities that serve them often thwart that goal. The present study was designed to increase the extent to which individuals with developmental disabilities engaged in tasks pursuant to preparing for, consuming, and cleaning up after lunch. During the pre-served condition, staff prepared and served the lunches to the clientele without involving them in any substantial way. The self-served condition involved staff training and environmental changes in order to set the occasion for greater independence among the clientele. The changes included involving the clientele in the preparation, consumption, and clean-up of the meal by least-to-most prompting of the clients through the tasks. Data was collected on 61 participants. A subset of 12 participants' verbal behavior was examined in order to determine the intervention's impact on positive and negative verbal behavior. A multiple baseline analysis across lunch groups indicated an increase in participation in activities associated with the lunch routine, but had varying effects on verbal behavior.

Este estudo teve o objetivo de analisar a durabilidade de restaurações confeccionadas pela técnica de Tratamento Restaurador Atraumático (ART), realizadas em associação ou não ao emprego do Carisolv® em pacientes com deficiência mental. O protocolo foi aprovado pelo Comitê de Ética local e obteve-se o consentimento livre e esclarecido dos responsáveis. Dos 26 pacientes com deficiência mental que participaram desta pesquisa, 14 eram do sexo masculino e 12 do feminino; tinham entre oito a dezesseis anos (mediana e semi-amplitude interquartílica de 12 anos ± 1,50). As condições dentais e de higiene bucal puderam ser avaliadas pelos índices CPO-D, que foi igual a 6,27 (desvio padrão de 3,26); e IPV (índice de placa gengival) com resultado de 57,30 (desvio padrão de 25,79). Cada paciente selecionado recebeu pelo menos uma restauração da técnica ART (controle) e outra modificada em associação com Carisolv®, aleatoriamente escolhidas para tratamento. O número de dentes tratados foi 52 sendo 26 com a técnica ART (T1) e 26 com a técnica ART associada a Carisolv® (T2). Este grupo de pacientes com deficiência mental precisou de uma média de duas sessões de condicionamento cada. Quanto à profundidade cavitária, apenas dois dentes do total analisado foram considerados com cavidades profundas, os quais foram restaurados coincidentemente com a mesma técnica (T1), as outras cavidades se distribuíram igualmente entre rasas e médias. Quanto à dificuldade encontrada pelo operador no momento da remoção do tecido cariado, considerando-se as duas técnicas (T1 e T2) os registros foram muito próximos, isto é, a técnica de remoção mecânica do tecido cariado (T1) e a técnica de remoção química-mecânica (T2) apresentaram o mesmo grau de dificuldade. Como cada paciente foi submetido às duas técnicas, foi possível avaliar o grau de dificuldade sentida pela profissional, entre elas, no mesmo paciente. Em 80,77% dos casos as respostas foram coincidentes. Dos 26 pacientes, apenas cinco não foram capazes de relatar o grau de desconforto sentido no momento da remoção do tecido cariado. A maioria dos pacientes (44,23%) não sentiu desconforto durante o procedimento. Comparando as respostas do mesmo paciente diante de cada uma das técnicas, obteve-se 85,72% de respostas coincidentes. O tempo operacional das restaurações foi somado, respeitandose as técnicas. As 26 restaurações pela técnica T1 resultaram em 1005 minutos e as 26 da T2 em 1070 minutos. A diferença é de 65 minutos a mais para a T2 que, se dividido pelo número de restaurações (26), obtém-se um acréscimo de 2,5 min. a mais para cada procedimento. Os escores utilizados para avaliação clínica das restaurações após 6 e 12 meses foram os preconizados para a técnica por Frencken de 0 a 9, sendo escores: 0, 1 e 7 sucesso; escores 2, 3, 4 e 8 falha e escores 5,6 e 9 excluídas restaurações do estudo. Aos 6 meses apenas duas restaurações foram excluídas do trabalho; porém, aos 12 meses este item foi de 21 restaurações, 18 destas pela impossibilidade de diagnóstico por ausência do paciente para avaliação. Os escores obtidos nas avaliações aos 6 e 12 meses classificados como sucessos foram: aos 6 meses, T1-76,92%, T2-84,62%; aos 12 meses T1-53,84%, T2-57,69%. Aqueles classificados como falhas foram aos 6 meses T1-19,23%, T2-11,53%; aos 12 meses T1-3,84%, T2-3,84%. Já as restaurações com escores de excluídas representaram aos 6 meses T1-3,84%, T2-3,84% e aos 12 meses T1-42,30%, T2-38,46% do total de restaurações que compunham a amostra. Se não forem computadas como falha todas aquelas restaurações classificadas com escore 9, ou seja, aquelas pertencentes aos pacientes que não foi possível examinar, as porcentagens se alteram; os escores obtidos serão então classificados como sucesso: aos 6 meses, T1-80,00%, T2-88,00%; aos 12 meses T1-82,36 % e T2-88,24%. Em todas variáveis estudadas: profundidade, dificuldade, desconforto, tempo operatório, avaliação clínica aos 6 e 12 meses não se observou diferença estatisticamente significante entre as técnicas T1 e T2 (teste estatístico de Wilconxon (P-value > 0,05). / This study analyzes the durability of restorations accomplished by the Atraumatic Restorative Technique (ART), with or without utilization of Carisolv® in patients with mental impairment. The study design was approved by the local Institutional Review Board and the caretakers of patients signed an informed consent term. Among the 26 patients with mental impairment included in this study, 14 were males and 12 were females; patients were aged 8 to 16 years (median and interquartile semi-amplitude 12 years ± 1.50). The dental and oral hygiene status were evaluated by the DMFT index, which revealed a mean value of 6.27 (standard deviation 3.26); and GPI (gingival plaque index) with a mean value of 57.30 (standard deviation 25.79). Each patient received at least one restoration by the ART technique (control) and another restoration by the modified technique associated with Carisolv®, randomly selected for treatment. Overall, 52 teeth were treated, being 26 by the ART technique (T1) and 26 by the ART technique associated with Carisolv® (T2). This group of patients with mental impairment required a mean of two sessions of psychological preparation in the dental clinic each. With regard to the cavity depth, only two teeth were considered as deep cavities, which coincidently were restored by the same technique (T1); the other cavities were equally distributed among shallow and medium depth. Concerning the difficulty experienced by the operator for removal of carious tissue, considering the two techniques (T1 and T2), the records were very close, i.e. the mechanical technique (T1) and the chemicalmechanical technique (T2) for removal of carious tissue presented the same degree of difficulty. Since each patient was submitted to both techniques, it was possible to evaluate the degree of difficulty experienced by the professional between both techniques in the same patient. Responses were coincident in 80.77% of cases. Among the 26 patients, only five were unable to report the degree of discomfort felt during removal of carious tissue. Most patients (44.23%) did not feel any discomfort during the procedure. Comparison of the responses of the same patient for each technique revealed 85.72% of coincident responses. The chair time of restorations was added, according to the techniques. The 26 restorations performed by the T1 technique required 1,005 minutes, compared to 1,070 minutes for the 26 restorations performed by the T2 technique. The 65-minute difference for T2, divided by the number of restorations (26), revealed an increase of 2.5 minutes for each procedure. Clinical evaluation of restorations after 6 and 12 months was scored by the Frencken technique, from 0 to 9, as follows: 0, 1 and 7, success; scores 2, 3, 4 and 8, failure; and scores 5, 6 and 9, restorations excluded from the study. At six months, only two restorations were excluded; however, at 12 months, this score was assigned to 21 restorations, 18 of which due to the impossibility of diagnosis because the patient was not available for evaluation. The following percentages of restorations were scored as success: at 6 months, T1 76.92%, T2 84.62%; at 12 months, T1 53.84%, T2 57.69%. The percentages of restorations scored as failures were as follows: at 6 months, T1 19.23%, T2 11.53%; at 12 months, T1 3.84%, T2 3.84%. The percentage of restorations excluded was T1 3.84%, T2 3.84% at 6 months and T1 42.30%, T2 38.46% at 12 months. No statistically significant differences were found between the T1 and T2 techniques for any study variable (depth, difficulty, discomfort, chair time, clinical evaluation at 6 and 12 months) (Wilcoxon statistical test , p value > 0.05).

M.A.

The purpose of this study was to examine the diagnostic and classification accuracy of placement decisions for Mildly/Educably Mentally Handicapped (M/EMH) children in British Columbia. Evidence from the United States suggests that classification decisions are often made on the basis of idiosyncratic student behaviours and the subjective opinions of educators, not on the basis of empirical evidence. Although Canadian special education practice is often based on that of the U.S., no major study of the accuracy of diagnosis and classification has been undertaken in this country. Based on a review of the literature, internationally accepted criteria for the diagnosis and classification of M/EMH students were formulated. In addition, variables that might influence the use of these criteria were identified. Elementary age students from two metropolitan Vancouver school districts who had been suspected of being M/EMH during a two-year period served as subjects (n=106). Of these 57 were classififed as M/EMH and 49 were classified as regular education. An evaluation of IQ, adaptive behaviour, reading and arithmetic achievement, maladaption, and visual and hearing acuity was performed for each subject. Preliminary data analyses permitted the formation of an achievement composite score and the pooling of subjects from the two districts. Using an internationally accepted two-factor diagnostic model, analyses were performed to investigate the classification accuracy for the sample. Cut-off criteria used with the two-factor model were adjusted to those of both the American Association for Mental Deficiency and the draft B.C. Special Education Guidelines. Where subjects could not be confirmed by the application of these models, sources of classification error were identified. Next, a series of discriminant function analyses, each representing a historical step in the development of diagnostic and classification models, were performed and the classification accuracy of each examined. Finally, a full model of all measured variables was examined using both a forced discriminant function procedure and a step-wise technique. The findings suggested that a combination of the adaptive behaviour, IQ, and achievement variables provided the highest classification accuracy. This result is consistent with much of the research from the U.S. IQ scores were found to consistently dominate classification decisions. In addition, academic achievement proved to be a valid predictor, either in combination with social adaptation or maladaption. However, maladaptive behaviour, whenever entered with social adaptation, overwhelmed the latter as a descriminator of group membership. The highest classification rate for the total sample was 92.0% for the combination of adaptive behaviour, IQ, and academic achievement. Although visual and hearing acuity were not found to be related to group membership, it was discovered that testing for these variables was not occurring in the districts studied in accordance with accepted best practice. A disproportionate number of M/EMH students proved to be untestable using school-based audiological and visual sweep testing techniques. In cases of untestability, the assumption that the child can see and hear within normal tolerances appears to be made, and efforts to use alternative testing procedures are not pursued. In addition, visual and hearing testing appears to occur after the administration of standardized cognitive tests, and not before, as best practices would dictate. The principal contributions of this research are (1) that it is the first major study of diagnostic and classification accuracy with a Canadian M/EMH population, (2) that it advises the inclusion of academic achievement as a domain of adaptive behaviour based on empirical evidence of the importance of that variable in diagnosing M/EMH, and (3) it examines the role of auditory and visual acuity testing in M/EMH diagnosis and classification. / Education, Faculty of / Educational and Counselling Psychology, and Special Education (ECPS), Department of / Graduate

This study was concerned with setting up a similar situation wherein pregnant mice had an abnormally high phenylalanine metabolism. Through physical and intellectual assessment of their offspring, it would then be possible to determine what effects the abnormal metabolism had during pregnancy and whether or not a restricted diet need be resumed at that time.

It was the purpose of this present study to investigate the effects of two types of music, tonic and sedative, on the gross motor activity of profound mental retardates. The primary objective was to determine if therapeutic benefits resulting from the application of music could be extended to profound retardates as has already been demonstrated with other levels of retardation.

The purpose of this study is to provide a measurement of selected parental attitudes and an evaluation of the effectiveness of Parent Groups as instruments for promoting attitude changes in a positive direction.

Research has shown that when individuals are in situations that do not occasion one form of motoric responding, they will engage in another so that the overall level of motoric responding is homeostatic. The purpose of this study was to test whether students would substitute task-related behaviors for stereotypic or other challenging behaviors when the opportunity for active responding did or did not match the level of motoric responding in a free-operant baseline. Four students with mental retardation participated. Results showed that they did substitute behaviors, with stereotypic and other challenging behaviors occurring 1.5-14 times as much in the Non-matched condition for the four students. Further analysis showed considerably more of these behaviors in passive than in active tasks (by a factor up to 21 times as much). Results were discussed in terms of homeostasis, functional assessment, and opportunities to improve educational behaviors.

The purpose of this article was to review the literature about families of adult children with developmental disabilities, the impact of culture on access to health care services, and community-based health care services for adults with developmental disabilities to answer the following questions: (1) How do parents of adult children with mental retardation and other developmental disabilities describe their caregiving experiences?, (2) What are frequently identified unmet service needs by the parents/families?, (3) Does the family's culture or ethnic background influence how they view their caregiving experiences?, and (4) What are the unique challenges facing families when attempting to access health care services? Currently little information exists about the needs of parents and other family members who live with adults with developmental disabilities. Longitudinal studies and studies to assess the influence of culture on care giving are especially needed. Therapists need to use approaches that will empower children and their families so they can better meet their current challenges and provide a foundation for the skills they will need to meet future challenges as adults.