The aim of this research is to examine attachment in offenders with mild intellectual disability. Insecure attachment is evidenced as a developmental risk factor with regard to antisociality, in the mainstream population. However there is a dearth of evidence with regard to attachment and the development of antisociality in offenders with intellectual disability (ID). Differences in lifespan development and cognitive limitations may affect the development of attachment bonds in this group. This research explores attachment (measured retrospectively in childhood), relationships to perceived parenting, emotion and personality pathology in offenders with ID. Adaptation of an existing self report measure (Relationship Questionnaire) (RQ) resulted in the development of the ‘Adapted Relationship Questionnaire’ (ARQ). To test construct validity and reliability the ARQ and the RQ were administered to 60 university student participants. Participants rated each questionnaire with regard to retrospective childhood attachment, 41 additional participants filled in the ARQ only. No significant differences were found between categorical attachment ratings of attachment on the RQ and ARQ. A test of construct validity showed convergence between the ‘Fearful Avoidant’ and ‘Preoccupied’ attachment styles. Principal Components Analysis (Direct Oblimin) resulted in a three factor solution for the ARQ of ‘Secure’, ‘Anxious Avoidant and ‘Dismissing Avoidant’ attachment styles which showed Cronbach’s Alpha ratings of .69, .87 and .84 respectively. A control group (n25) of participants with mild ID, who had no offending history, and a group of offenders with ID (n38) completed the ARQ. Background, forensic and childhood adversity information was gathered from file review for offenders. The Parental Bonding Inventory (PBI) was completed by offenders with mild ID and the Emotional Problem Solving (EPS) scale and Interpersonal Adjectives Scale (IAS) was completed by clinical staff involved in the support of the participant. Borderline and Antisocial Personality Disorder was assessed by consensus rating from file review, clinicians ratings, observational ratings of staff and staff interview using the Structured Assessment of Personality (SAP). Consensus agreement was attained from three sources of the assessment sources before the particular PD trait was rated positively. Assessment of emotion in controls was carried out using the Dundee Provocation Inventory (DPI) and the Brief Symptom Inventory (BSI). Results show no significant differences in attachment style relative to gender or comparison between offender and controls of non offenders with ID or offenders compared to mainstream student participants. No significant relationships were found between attachment style and childhood adversity. Orderly relationships were found within the 'Secure' attachment style with positively relationships to 'Optimal Parental Care', ratings of 'Self Esteem' and level of submissiveness and compliance within interpersonal styles. The insecure 'Anxious Avoidant' attachment style related positively to the low care/high protection parenting style with negative relationships to dimensional ratings of care within the parental relationship and submissiveness and compliance within ratings of interpersonal style. The insecure 'Dismissing Avoidant' attachment style in offenders with ID showed a negative relationship to optimal parenting and a positive relationship to a verbally aggressive, coercive interpersonal style and also antisocial personality disorder. Only two participants were allocated a diagnosis of Borderline personality disorder which did not facilitate quantitative statistical analysis of this group. Within the control group 'Secure' attachment style appeared to be a protective factor to emotional difficulties, and was positively related to the perception of optimal parenting and care received in childhood but not parental protection. The insecure 'Anxious Avoidant' attachment style appeared to act as a risk factor to the development of emotional difficulties. No significant relationships were found between the 'Dismissing Avoidant' style and emotional problems.

Through secondary analyses of quantitative data obtained from the Transition and Postsecondary Programs for Students with Intellectual Disabilities (TPSID) National Coordinating Center database from the first cohort (2010-2015) of model demonstration sites in Florida, this study examined components of the postsecondary education programs for students with intellectual disabilities that are correlated with employment upon program exit. This study adds to the emergent knowledge base on inclusive higher education by identifying the programmatic components of the postsecondary education programs for students with intellectual disability most correlated with successful transition from college to employment. This information can be used to inform program development and refinement to foster employment upon exit, a worthy outcome that leads to greater quality of life. The academic access program component of inclusive coursework was found to have the strongest correlation with the post-school outcome of paid, competitive employment upon exit. This program component aligns with the established predictors of post-school success for students with disabilities (Mazzotti et al., 2016) and employment for people with intellectual disabilities (Southward & Kyzar, 2017). Areas of agreement are discussed as well as implications for a number of stakeholders.

L’objectif de cette thèse était d’analyser les difficultés de wayfinding de personnes présentant une déficience intellectuelle (DI) sous l’angle de l’autorégulation et de l’hétérorégulation. Pour cela, trois études utilisant une situation d’apprentissage d’itinéraires en environnement virtuel ont été menées. La première montre que les personnes présentant une DI ont un niveau d’autorégulation globale et de certaines stratégies autorégulatrices plus faible que les personnes au développement typique de même âge chronologique. Elles acquièrent la connaissance d’itinéraires après un apprentissage plus long et sont peu nombreuses à développer une connaissance de la configuration de l’environnement. La seconde étude, portant sur 19 dyades éducateurs-jeunes présentant une DI, révèle un ajustement entre l’hétérorégulation des éducateurs et l’autorégulation des jeunes. En outre, l’analyse des aides verbales données par les éducateurs montre qu’ils utilisent principalement des prescriptions d’actions associées ou non aux points de repère. L’impact de ces deux types d’aides a été testé dans la troisième étude montrant que les prescriptions d’actions associées aux points de repère favorisent l’apprentissage d’itinéraires chez les personnes présentant une DI et chez des enfants au développement typique de même niveau de développement intellectuel. Nos résultats semblent montrer que l’autorégulation, l’hétérorégulation et le wayfinding ne sont pas des processus indépendants. Toutefois, d’autres recherches sont nécessaires pour mieux définir la nature de leur relation. Enfin, plusieurs implications pratiques sont envisagées concernant l’autorégulation, les méthodes d’apprentissage des déplacements et les aides à la navigation. / The aim of this thesis was to analyse the wayfinding difficulties in individuals with intellectual disability (ID) from the angle of self-regulation and other-regulation. For this purpose, three experiments were conducted using route learning in virtual environments. The first study showed that people with ID had a lower level of global self-regulation and of some self-regulatory strategies than typically developing people of the same chronological age. They acquired route knowledge after a longer learning time and had difficulties in developing configurational knowledge of the environment. The second study, including 19 educators-teenagers with ID dyads, revealed an adjustment between educators’ regulation and teenagers’ self-regulation. Moreover, the analysis of the verbal aids given by the educators showed that they mainly used prescriptions of actions with or without reference to landmarks. The impact of these two types of aids was tested in the third study showing that prescriptions of actions with reference to landmarks promoted route learning in people with ID and typically developing children with the same level of intellectual development. Our results suggested that self-regulation, other-regulation and wayfinding are not independent processes. However, further research is needed to better define the nature of their relation. Several practical implications are envisaged concerning self-regulation, methods of teaching independent travel and navigational aids.

L'analyse chromosomique sur puce ADN (ACPA) tend à devenir le principal examen diagnostique dans la déficience intellectuelle (DI). Parmi les techniques d'ACPA, les puces SNP ont l'intérêt de pouvoir détecter les pertes d'hétérozygotie, et par conséquent d’identifier les isodisomies uniparentales (iUPD) et les zones d'identité liées à la consanguinité. Nous avons étudié une cohorte de 1 187 patients atteints de DI, dans un cadre diagnostique, sur puces SNP. Nous avons réalisé, par cette étude, 145 diagnostics (12%) dont 2 iUPD et 6 délétions n'incluant qu'un seul gène. De plus, nous avons détecté 639 CNV rares non décrits chez des sujets contrôles et incluant des séquences codantes, ce qui nous a permis d'identifier 11 gènes candidats dans la DI : CAMTA1, SP3, CNTNAP4, NUDT12, STXBP6, DOCK8, DOCK10, SMARCA2, NYAP2, ATAD3A et ATAD3B. Nous avons tenté de valider l'implication de ces gènes par séquençage, mais n'avons trouvé de seconde mutation pour aucun d'entre eux. Toutefois, des réarrangements de CAMTA1 ont été retrouvés dans 2 autres familles avec un phénotype homogène (DI et ataxie congénitale) ce qui nous a permis d’affirmer qu'il s'agit d'un gène de DI. Par ailleurs, l'homozygosity mapping, réalisé avec puces SNP, a identifié, par séquençage whole exome, une mutation non-sens homozygote du gène BUD13 dans une famille de DI syndromique. Enfin, de façon fortuite, nous avons caractérisé en ACPA une translocation familiale entraînant une disruption d'un gène d'ataxie spino-cérébelleuse, ATXN10, ce qui a permis de mieux comprendre la physiopathologie de cette maladie. Au total, notre étude démontre l'intérêt des puces SNP dans la DI, d'une part en diagnostic et d'autre part pour l'identification de nouveaux gènes responsables de DI. / Chromosomal Microarray Analysis (CMA) has become the main diagnostic test in the field of intellectual disability (ID). Among CMA techniques, SNP arrays have the advantage of identifying losses of heterozygosity in addition to Copy Number Variants (CNVs). Therefore they can detect uniparental isodisomies (iUPD) and regions of identity by descent. We screened a cohort of 1,187 patients with ID, in diagnostic setting, by CMA using SNP arrays. Causal abnormalities, including 2 iUPDs and 6 deletions comprising only one gene, were detected in 145 patients (12%). Moreover we found 639 rare CNVs, absent from control individuals, which included coding sequences. Our results allowed us to identify 11 genes possibly involved in or contributing to ID: CAMTA1, SP3, CNTNAP4, NUDT12, STXBP6, DOCK8, DOCK10, SMARCA2, NYAP2, ATAD3A and ATAD3B. We then screened additional patients with similar phenotypes in order to find a second mutation, but no second mutation was identified in any of them. Besides, CAMTA1 rearrangements were also found among two other families with homogeneous phenotypes (ID and congenital ataxia), which confirms that this gene is involved in ID. Furthermore, thanks to homozygosity mapping made possible by SNP arrays combined with exome sequencing, we identified a homozygous nonsense mutation in the BUD13 gene, in a family with syndromic ID. Finally we incidentally characterized a familial translocation resulting in the disruption of ATXN10, a gene responsible for spinocerebellar ataxia. This translocation has helped to better understand the pathophysiology of the disease. Overall, our study shows the importance of SNP arrays for the molecular diagnosis of ID and as a tool to identify genes responsible for ID.

The purpose of this study was to provide training to peer tutors in order to teach students with severe intellectual disability to initiate communication to obtain preferred objects. A multiple probe (days) across students was used to evaluate the effectiveness of the peer implementing a naturalistic time delay to teach the communication skill. Two of the four students were able to initiate communications with the peer tutors to use objects they preferred. One student showed increasing in responding prior to the implementation of the intervention. The results showed that the peers were able to maintain the instructional procedures to teach the skill.

L’objectif de cette thèse était de contribuer à la compréhension de l’effet des caractéristiques environnementales et individuelles sur l’autodétermination et l’autorégulation d’adolescents et jeunes adultes présentant une déficience intellectuelle (DI). Pour cela, nous avons conduit une première étude, longitudinale, auprès de 45 jeunes DI évaluant l’impact du changement d’environnement (passage du milieu spécialisé au milieu ordinaire de formation) ainsi que l’effet des fonctions exécutives sur l’autodétermination et l’autorégulation. Les résultats n’ont pas mis en évidence d’effet du changement d’environnement sur l’autodétermination (échelle du LARIDI ; Wehmeyer et al., 2001). Concernant la dimension d’autorégulation, la mesure d’autorégulation en situation de gestion de vie (Nader-Grosbois, 2007b) était sensible aux changements d’environnement. Le score d’autorégulation (LARIDI) était quant à lui prédit par une mesure générale de la flexibilité (Wisconsin Card Sorting Test). Dans une seconde étude, nous avons exploré plus spécifiquement les liens entre l’autorégulation, le langage et les fonctions exécutives (inhibition, flexibilité et mise à jour en mémoire de travail) chez 63 jeunes DI. Les résultats ont montré que le langage, l’inhibition et la mise à jour en mémoire de travail prédisaient la performance d’autorégulation dans notre échantillon. Ces deux études ont permis de mettre en évidence l’implication importante du langage et des fonctions exécutives dans l’autorégulation, dimension clé de l’autodétermination. Cependant d’autres recherches sont nécessaires afin de mieux définir les relations entre ces différentes dimensions. Le développement de programmes de soutien à l’autorégulation ayant recours à l’entraînement des fonctions exécutives pourrait être bénéfique pour les personnes DI. / The aim of this thesis was to increase the understanding of the effect of environmental and individual factors on self-determination and self-regulation among teenagers and young adults with intellectual disability (ID). For this purpose, we have conducted a longitudinal study, among 45 young people with ID to assess the effects of environmental changes (moving from a less to a more integrated setting) and executive functioning on self-determination and self-regulation. Results did not show a significant effect of environmental factors on self-determination (LARIDI; Wehmeyer et al., 2001). With regard to self-regulation, one measure assessing self-regulation in daily life was sensitive to environmental changes (Nader-Grosbois, 2007b) whereas the other selfregulation’s score (LARIDI) was predicted by shifting ability (Wisconsin Card Sorting Test). In another study, we have investigated the relationships between self-regulation, language and executives functions (inhibition, shifting and updating) among 63 young people with ID. Results showed that language, inhibition and updating predicted self-regulation’s performance in our sample. These studies highlighted the significant involvement of language and executive functions in self-regulation, a key dimension of self-determination. Nevertheless, further research is required to define the relationship between these dimensions. Training focusing on executive functions could be efficient to improve self-regulation in people with ID.

Background: Research has shown that mindfulness-based interventions (MBIs) can be effective in the treatment and management of a variety of psychological and physical health conditions. Whilst under researched, there is growing evidence to support the use of MBIs with individuals with intellectual disabilities (IDs) who may require adaptation to existing MBIs as a result of cognitive or other impairments. Method: This research dossier describes the development of an 8-week mindfulness group for adults with IDs. Two mindfulness groups were delivered by community practitioners. Participants completed self-report measures of anxiety and depression pre-intervention, postintervention and at follow-up. Participants were interviewed for their experience of the group and assessed for their ability to understand and engage with the basic concepts of mindfulness. Results: Participants reported a decrease in anxiety post-intervention which continued to decrease at follow-up five weeks after the final session of the mindfulness group. Selfreported depression also decreased post-intervention, however there was a slight increase at follow-up although this remained lower than baseline. The decrease in self-reported depression from pre-intervention to post-intervention was statistically significant. Participants were able to engage with, understand, enjoy and benefit from the mindfulness group and appreciated having the opportunity to meet with similar people with similar experiences. Conclusion: Results indicate that the mindfulness group had some positive effect on selfreported anxiety and depression states. Participant feedback coupled with the researcher’s own reflections offer direction for further adaptations that could be made to the mindfulness group and support the need for further research in this area.

Les questions associées à la sexualité en contexte de handicap intellectuel ont historiquement été au cœur de stratégies biopolitiques alliant santé collective et contrôle populationnel. S’étant distanciées de l’époque institutionnelle et des pratiques eugéniques la caractérisant, les interventions ciblant ce domaine se sont graduellement reconfigurées sous l’angle de la participation sociale, du partenariat de soin et d’approches normalisantes. Plus que jamais, cette dimension se situe à l’intersection de valeurs personnelles et collectives, la vie affective et sexuelle étant aux racines de l’identité individuelle et mobilisant également ses représentations idéalisées par l’imaginaire collectif. Toutefois, bien que le rôle infirmier en santé sexuelle et en planification familiale soit reconnu, plusieurs recherches illustrent qu’il reste confiné à sa dimension biomédicale et qu’il répond avec grande difficulté aux besoins spécifiques des personnes identifiées comme ayant un handicap intellectuel en cette matière. Alliant un cadre théorique inspiré des écrits de Michel Foucault et de Julia Kristeva à une approche méthodologique issue de l’Analyse Phénoménologique Interprétative, cette recherche explore le processus de construction de l’identité socioaffective en contexte de handicap intellectuel. Par cet intermédiaire, elle propose une meilleure compréhension du parcours de vie des personnes ayant un handicap intellectuel à l’égard de l’expression affective et sexuelle, ainsi que celui de leurs systèmes de soutien. La collecte des données s’est déployée sur une période de 6 mois et a recueilli, par le biais d’entrevues semi-dirigées, les récits de 16 participants. De ce groupe, 5 sont des usagers de services de réadaptation spécialisés en handicap intellectuel, 5 sont des proches aidants et 6 sont des intervenants œuvrant dans ces mêmes services.Cette recherche expose que l’expression affective et sexuelle s’inscrit au sein d’un large processus de négociation systémique et identitaire. Systémique, car répondant de systèmes de savoirs propres au handicap intellectuel et à la sexualité, autorisant de ce fait diverses interventions visant à normaliser la personne et à offrir une réponse aux modes de subjectivation de la personne dite « vulnérable » ou « dangereuse ». Identitaire puisque ces pratiques investissent l’ensemble des axes de l’existence affective et sexuelle, allant de l’habitation d’espaces austères à la reconfiguration du « moi » intime. Ces constats sont une mise à l’épreuve des prétentions holistiques de la pratique infirmière, plus spécifiquement de sa capacité à participer à l’émancipation des personnes identifiées comme ayant un handicap intellectuel ainsi qu’à la reconnaissance de leurs besoins et de leur droit à l’expression affective et sexuelle.

This thesis explored attachment in individuals with intellectual disability (ID). It investigated the role attachment may have in presenting difficulties such as challenging behaviour, which is an area much researched within other populations. It also considered parental well-being in the early years following diagnosis and the implications this may have for attachment development. Paper 1 describes a systematic review of the literature on parental response and adaptation to a child’ diagnosis of an ID in the early years. The news of a child’s diagnosis can be met with a range of intense emotions however, existing research reports conflicting outcomes regarding the nature of parental reactions and the psychological impact that may result. 12 studies were reviewed with one study demonstrating a strong methodology. The review found that the comparison groups used within studies had an important bearing on how effectual parental response and adaptation appeared. Due to the limited literature available and the methodological variation within the reviewed studies, no clear conclusions could be drawn. Paper 2 describes an empirical study which investigated the contribution of attachment behaviour to engagement in challenging behaviour, whilst considering other variables, in adults with ID. 22 service staff completed assessment questionnaires which examined service user attachment behaviour, level of adaptive ability, challenging behaviour and other variables. The relationships between particular variables were analysed. Results showed that level of adaptive ability was significantly related to attachment behaviour and challenging behaviour. Attachment behaviour was also significantly related to challenging behaviour, particularly social withdrawal and lethargy. However, when adaptive behaviour was controlled for the significance of these relationships disappeared. Therefore attachment behaviour did appear to contribute to challenging behaviour but less significantly than level of adaptive ability. The nature of the interaction between these three key variables is unclear and requires further research. Findings support the implementation of effective attachment based interventions alongside evidence based behavioural strategies. This would be particularly important for those at high risk of attachment and behavioural difficulties, which current and previous findings suggest may be those with ASD and those with lower levels of ability. Paper 3 describes the strengths and limitations of the systematic review and empirical paper. The research process, findings and clinical implications from each of the previous papers are discussed and reflected upon.

Os objetivos deste estudo foram estimar a prevalência da deficiência intelectual aos 7-8 anos de idade em uma coorte de nascimentos, através de investigação genética clínica e laboratorial e, também, investigar a etiologia da mesma e os fatores associados. Os participantes faziam parte de uma coorte acompanhada desde o nascimento e foram incluídos neste estudo por apresentar, em acompanhamentos anteriores, suspeita de atraso no desenvolvimento segundo o Teste de Rastreamento de Battelle, QI abaixo de 70 segundo a escala WPPSI e/ou problemas no comportamento observados durante entrevista. Das 4231 crianças da Coorte de 2004 de Pelotas, 214 foram selecionadas para a avaliação genética que constou de: anamnese, exame físico e dismorfológico e coleta de sangue e urina quando indicado. Criou-se um banco de dados incluindo variáves desta avaliação e dos acompanhamentos anteriores da Coorte, tais como: variáveis da gestação e do nascimento, sociodemográficas e relativas à saúde e estimulação da criança. Os dados foram processados no pacote estatístico Stata 13.0 e foi utilizada análise de variância (ANOVA). Foi considerada como tendo deficiência intelectual a criança que, além de apresentar um QI abaixo de 70, apresentava também problemas no comportamento adaptativo. Cento e setenta crianças das duzentas e quatorze selecionadas no início do estudo foram diagnosticadas com deficiência intelectual e classificadas em cinco grupos etiológicos. A maior parte das crianças (44,4%) foi classificada como tendo deficiência intelectual devida a causas não-biológicas, ou seja, ligada a fatores ambientais. O segundo maior grupo (16,6%) foi o grupo de crianças com deficiência intelectual genética que incluiu crianças com síndrome de Down, microdeleções e patologias autossômicas dominantes e patologias multifatoriais. A seguir, crianças com sequelas neonatais (13,3%) e deficiência intelectual associada a outras doenças (13,3%), como epilepsia e TDAH. O menor grupo foi o idiopático, constituído por crianças que, mesmo após investigação clínica e laboratorial, permaneceram sem diagnóstico definido. A prevalência de deficiência intelectual foi de 4,5% e a prevalência de deficiência intelectual genética de 0,66%. Apesar de algumas limitações como a identificação e seleção dos casos aos 4 anos para uma avaliação aos 7-8 anos, é importante considerar que, por ser um estudo de base populacional, com alta taxa de acompanhamento (92,0%), isto minimiza o viés de seleção. O fato dos dados serem colhidos no momento ou em um curto intervalo de tempo, considerando os diversos acompanhamentos, minimiza o viés de memória. Fora do mundo desenvolvido, são raros os estudos de coorte que avaliaram deficiência intelectual, seus fatores de risco e sua etiologia. Grande parte destes estudos, mesmo os conduzidos em países de renda alta, avaliaram a prevalência, mas não a etiologia. Os dados sugerem que boa parte destes casos poderia ser prevenida, principalmente considerando uma etiologia não-biológica, caso existissem, além do rastreamento de problemas no desenvolvimento, estratégias de intervenção educacional e de saúde. / The aims of this study were to estimate the prevalence and etiology of intellectual disability at 7-8 years of age in a birth cohort through clinical and laboratory investigation and associated factors. Participants were part of a cohort followed from birth and were included in this study due to suspected developmental delay according to the Battelle Screening Test, IQ below 70 according to WPPSI scale and / or behavior problems observed during the interview in previous follow-ups. Of the 4231 children in the 2004 Pelotas birth cohort, 214 were selected for genetic evaluation which included anamnesis, physical and dysmorphological examination and collection of blood and urine when indicated. A dataset including variables from this evaluation and the previous cohort of follow-ups such as variables of pregnancy and birth, social demographic and health-related and stimulation of the child. Data were analyzed using Stata version 13.0. Analysis of variance (ANOVA) was performed. To be considered as having intellectual disability the child that presenting an IQ below 70 and problems in adaptive behavior. One hundred and seventy children from two hundred fourteen selected at baseline were diagnosed with intellectual disability and they were classified into five etiologic groups. Most children (44.4 %) were classified as having intellectual disability due to no biological causes, i.e., linked to environmental factors. The second largest group (16.6%) was the group of children with genetic intellectual disability which included children with Down syndrome, microdeletions and autosomal dominant and multifactorial diseases. Children with neonatal sequelae accounted for 13.3% and intellectual disability associated with other diseases such as epilepsy and ADHD also accounted for 13.3%. The smallest group was idiopathic composed of children who even after clinical and laboratory investigation remained without a definite diagnosis. The prevalence of intellectual disability was 4.5 % and the prevalence of genetic intellectual disability 0.66 %. Despite some limitations such as the identification and selection of cases to four years for an assessment at 7-8 years it is important to consider that it is a population-based study with high follow-up rate (92.0 %) which minimizes selection and information bias. As data were collected in time or in a short period of time considering the several follow-ups minimize recall bias. Outside the developed world few cohort studies assessed intellectual disabilities, their risk factors and etiology. Most of these studies even those conducted in high-income countries assessed the prevalence but not the etiology. The data suggest that part of these cases could be prevented specially considering the non-biological etiology if there were screening of developmental delay and intervention strategies on health and educational bases.