Cognitive-behavioural phenotype in a group of girls from 1.2 to 12 years old with the Incontinentia Pigmenti syndrome:recommendations for clinical management

Incontinentia Pigmenti (IP, OMIM#308300) is a rare X-linked genomic disorder (about 1,400 cases) that affects the neuroectodermal tissue and Central Nervous System (CNS). The objective of this study was to describe the cognitive-behavioural profile in children in order to plan a clinical intervention to improve their quality of life. A total of 14 girls (age range: from 1 year and 2 months to 12 years and 10 months) with IP and the IKBKG/NEMO gene deletion were submitted to a cognitive assessment including intelligence scales, language and visuo-spatial competence tests, learning ability tests, and a behavioural assessment. Five girls had severe to mild intellectual deficiencies and the remaining nine had a normal neurodevelopment. Four girls were of school age and two of these showed no intellectual disability, but had specific disabilities in calculation and arithmetic reasoning. This is the first description of the cognitive-behavioural profile in relation to developmental age. We stress the importance of an early assessment of learning abilities in individuals with IP without intellectual deficiencies to prevent the onset of any such deficit.

Práticas pedagógicas e inclusão escolar: o processo de ensino-aprendizagem de alunas com deficiência intelectual

This research aimed to know and analyze the pedagogical practices that have been developed in the teaching and learning of students with Intellectual Disability (DI), enrolled at common class of elementary school I. The study was conducted in a public school at Natal/RN, involving two students with DI, a multipurpose teacher, a teaching assistant, a teacher of arts and educational coordinator. As for methodological choice, we chose to develop a qualitative study, undertaking a case study. As tools for the construction of the data we use: semi-structured interviews, participant observation, field diary and document analysis. Data analysis reveals that the institution in which the research was undertaken gradually implementing changes in order to develop an inclusive practice, consistent with its assumptions. Regarding the practices developed in the teaching and learning of students with intellectual disabilities, it was possible to realize the fulfillment of certain adjustments in relation to the objectives, activities and some content, involving the use of resources and varied strategies. With regard to educational activities, we found that these had different levels of complexity, covering both basic goals as more complex objectives. From the observations, we realize that the Assistant Professor of mediations during varied activities as challenging tool in intellectual processes. We note, too, a dynamic classroom in which disabled students were under the guidance of Assistant Professor, and other students with all-round teacher who had a fairly traditional teaching methodology. It created thus an isolation situation, since there was no proposition practices to be developed with all students, and interaction among classmates, generally quite restricted. Although were highlighted developments in the social and academic learning of the surveyed students, the teachers said they did not feel prepared to work freight inclusion. The study reveals the need for teachers reviewing some actions undertaken, in order to develop more democratic pedagogical practices of education, stimulating the interactions between students, by proposing challenging activities that promote the formation and concepts. In addition, it points to the need of the education system invest and encourage the qualification of teachers with regard to education in an inclusive perspective, through actions that promote lifelong learning. It needs to be developed on the teacher a reflective attitude, resulting in a view that due diligence must be entered in practice inherent in teaching in order to use to enhance their educational experience.

Práticas pedagógicas e inclusão escolar: o processo de ensino-aprendizagem de alunas com deficiência intelectual

This research aimed to know and analyze the pedagogical practices that have been developed in the teaching and learning of students with Intellectual Disability (DI), enrolled at common class of elementary school I. The study was conducted in a public school at Natal/RN, involving two students with DI, a multipurpose teacher, a teaching assistant, a teacher of arts and educational coordinator. As for methodological choice, we chose to develop a qualitative study, undertaking a case study. As tools for the construction of the data we use: semi-structured interviews, participant observation, field diary and document analysis. Data analysis reveals that the institution in which the research was undertaken gradually implementing changes in order to develop an inclusive practice, consistent with its assumptions. Regarding the practices developed in the teaching and learning of students with intellectual disabilities, it was possible to realize the fulfillment of certain adjustments in relation to the objectives, activities and some content, involving the use of resources and varied strategies. With regard to educational activities, we found that these had different levels of complexity, covering both basic goals as more complex objectives. From the observations, we realize that the Assistant Professor of mediations during varied activities as challenging tool in intellectual processes. We note, too, a dynamic classroom in which disabled students were under the guidance of Assistant Professor, and other students with all-round teacher who had a fairly traditional teaching methodology. It created thus an isolation situation, since there was no proposition practices to be developed with all students, and interaction among classmates, generally quite restricted. Although were highlighted developments in the social and academic learning of the surveyed students, the teachers said they did not feel prepared to work freight inclusion. The study reveals the need for teachers reviewing some actions undertaken, in order to develop more democratic pedagogical practices of education, stimulating the interactions between students, by proposing challenging activities that promote the formation and concepts. In addition, it points to the need of the education system invest and encourage the qualification of teachers with regard to education in an inclusive perspective, through actions that promote lifelong learning. It needs to be developed on the teacher a reflective attitude, resulting in a view that due diligence must be entered in practice inherent in teaching in order to use to enhance their educational experience.

Using our Bodies Faithfully : Christian friendship and the life of worship

Peer reviewed

Using our Bodies Faithfully : Christian friendship and the life of worship

Peer reviewed

Irish dental practitioners perceived barriers to the care of patients with special healthcare needs and the effect of postgraduate training

Inequalities in oral healthcare service provision to people with special health needs have been reported in the Republic of Ireland. These include higher unmet dental treatment needs and longer waiting period to access routine dental treatment than the general population. Aim: The aims of this study were to determine the groups of patients with special needs which pose a challenge to manage in the dental surgery and to examine perceived barriers to the care of these patients. We aimed to determine whether postgraduate training in the management of these patients increases the practitioners’ frequency of treatment and their desire for further training in this area. Methods: A questionnaire was used to survey 326 randomly selected dentists from the Dental Council’s register of dentists. Questionnaire and information sheets explaining the purpose of the survey, confidentiality and anonymity of the responses were posted to the dentists. Results: The results showed that children with intellectual disability posed the biggest challenge for dentists to manage in the dental surgery. Behaviour management issues and the degree of disability were perceived by many dentists as factors that would have high effects on their willingness to treat patients with special needs. Dentists who have postgraduate training in the management of patients with special needs were significantly more willing to treat these patients and to seek additional training in the future. Conclusion: There are links between the training and the willingness of practitioners to undertake dental treatment or patients with special healthcare needs.

Remédiation cognitive portant sur les aspects fluide et cristallisé de l’intelligence auprès d'adolescents présentant un fonctionnement intellectuel limite : approche par le jeu.

L’objectif principal de cette thèse était de créer, d’implanter et d’évaluer l’efficacité d’un programme de remédiation cognitive, intervenant de façon comparable sur les aspects fluide (Gf) et cristallisé (Gc) de l’intelligence, au sein d’une population d’intérêt clinique, les adolescents présentant un fonctionnement intellectuel limite (FIL). Compte tenu de la forte prévalence de ce trouble, le programme de remédiation GAME (Gains et Apprentissages Multiples pour Enfant) s’est développé autour de jeux disponibles dans le commerce afin de faciliter l’accès et l’implantation de ce programme dans divers milieux. Le premier article de cette thèse, réalisé sous forme de revue systématique de la littérature, avait pour objectif de faire le point sur les études publiées utilisant le jeu comme outil de remédiation cognitive dans la population pédiatrique. L’efficacité, ainsi que la qualité du paradigme utilisé ont été évaluées, et des recommandations sur les aspects méthodologiques à respecter lors de ce type d’étude ont été proposées. Cet article a permis une meilleure compréhension des écueils à éviter et des points forts méthodologiques à intégrer lors de la création du programme de remédiation GAME. Certaines mises en garde méthodologiques relevées dans cet article ont permis d’améliorer la qualité du programme de remédiation cognitive développé dans ce projet de thèse. Compte tenu du peu d’études présentes dans la littérature scientifique concernant la population présentant un FIL (70idence au niveau langagier pour le vocabulaire réceptif et la fluence verbale. De plus, certains aspects des capacités attentionnelles et de la mémoire de travail semblaient être bien compensés, possiblement via l’effet de psychostimulants. Étonnamment, le fonctionnement adaptatif n’était pas directement relié au niveau intellectuel global et était hétérogène, suggérant l’importance d’évaluer ce domaine pour rendre compte du niveau de fonctionnement des adolescents présentant un FIL dans la vie quotidienne. D’un point de vue comportemental et psychiatrique, les adolescents avec un FIL avaient plus de manifestations internalisées et externalisées atteignant un seuil cliniquement significatif que leurs pairs. Ces manifestations comportementales expliquent d’ailleurs une part importante du niveau de stress parental dans cette population. Ces résultats sont importants à considérer lors de l’orientation académique, clinique et familiale dans la prise en charge des adolescents présentant un FIL, et soulignent l’importance de proposer une évaluation neuropsychologique approfondie. Enfin, la partie centrale de cette thèse consistait à créer un programme de remédiation cognitive portant sur les aspects fluide et cristallisé de l’intelligence, champs d’intervention qui a été négligé compte tenu de la stabilité longtemps postulée de ces processus. Ce programme de remédiation, intitulé GAME, s’adressait aux adolescents présentant un FIL pur ou partiel (soit les deux indices de raisonnement étaient dans la zone limite, soit un seul des deux), et présentait deux versants, GAME-c (portant sur l’intelligence cristallisée) et GAME-f (portant sur l’intelligence fluide). Cette intervention durait seize heures réparties sur huit semaines. Les résultats indiquent que les adolescents ayant suivi GAME-f ont amélioré leur raisonnement fluide; alors que les adolescents ayant suivi GAME-c ont amélioré à la fois leur raisonnement cristallisé et fluide. Cette étude contribue à remettre en question la stabilité des processus intellectuels. C’est par contre la première fois que des améliorations de l’intelligence sont constatées dans une population d’intérêt clinique par le biais d’un entraînement direct. Enfin, les variables cognitives, adaptatives, comportementales et psychiatriques susceptibles d’influencer la qualité de l’amélioration pour chacun des programmes GAME ont fait l’objet d’analyses supplémentaires dans un dernier chapitre et permettent de conclure à la possibilité d’adapter le programme GAME à d’autres populations (ex: déficience intellectuelle). Cette thèse a donc permis de souligner la pertinence d’utiliser les jeux comme outil de remédiation cognitive de part leur versatilité dans leur utilisation, leur facilité d’accès et leur faible coût. Elle met également en avant la nécessité de développer une meilleure compréhension de la population présentant un fonctionnement intellectuel limite et d’effectuer des évaluations neuropsychologiques exhaustives auprès de cette population (cognitif, adaptatif, comportemental et psychiatrique). Enfin, elle souligne la possibilité d’améliorer par remédiation directe les intelligences fluide et cristallisée auprès d’individus avec une intelligence subnormale et suggère qu’il pourrait en être de même pour des populations présentant des déficits cognitifs, comme la déficience intellectuelle légère. Les avenues futures de recherche et les retombées cliniques de ce travail sont discutées, en lien avec les différents résultats trouvés dans ces études.

Étude exploratoire des transitions de milieux de vie en communauté des personnes présentant une déficience intellectuelle

Cette étude exploratoire dresse un portrait des transitions de milieux de vie (MDV) dans des Centres de réadaptation en déficience intellectuelle et en troubles envahissants du développement (CRDITED) de la grande région de Montréal. Elle permet d’identifier 1) les pratiques de transition de MDV des intervenants pivots en CRDITED, 2) les critères de succès de la transition de MDV et les moyens de les évaluer selon les personnes présentant une déficience intellectuelle et les intervenants pivots et 3) l’écart entre les pratiques souhaitées et les pratiques actuelles à partir du point de vue des deux types de participants. Des personnes présentant une déficience intellectuelle (N = 9) et des intervenants pivots (N = 19) se sont exprimés sur leurs expériences de transition de MDV en participant à des entretiens de groupe. Une analyse qualitative de contenu a permis d’identifier une typologie des expériences de transition de MDV du point de vue des intervenants pivots. Un seul type de transition de MDV parmi les cinq identifiés, le type préparée, offre des conditions favorisant la réalisation de la transition dans des conditions satisfaisantes pour les intervenants pivots. Les autres types de transitions (types dernière minute, explosive, clé en main et salle d’attente) offrent peu d’occasions pour la personne présentant une déficience intellectuelle de s’impliquer dans le processus de transition. Les propos des intervenants pivots permettent d’identifier les caractéristiques d’une transition de MDV qu’ils jugent idéale (type comme si c’était moi). Les types de transitions sont comparés entre eux sur deux axes, soit sur l’axe représentant un continuum d’implication de la personne présentant une déficience intellectuelle dans sa propre transition et sur l’axe identifiant les grandes étapes de réalisation de la transition. Les résultats permettent de déceler un écart important entre les transitions actuellement effectuées et les politiques, intentions et engagements de l’offre de service auprès de cette clientèle, notamment au regard de l’implication de la personne présentant une déficience intellectuelle dans les décisions relatives à sa transition de MDV. L’étude permet aussi d’identifier trois dimensions importantes de l’évaluation du succès de la transition selon les perspectives des personnes présentant une déficience intellectuelle et des intervenants pivots. Les dimensions identifiées sont : bien-être psychologique et comportement, santé physique et collaboration. Les propos des intervenants pivots permettent de constater qu’il existe parfois un paradoxe entre leurs perceptions du succès de la transition de MDV et celles des personnes présentant une déficience intellectuelle. L’interprétation des résultats a permis d’élaborer des recommandations afin de favoriser de meilleures pratiques de transition.

Comprometimento Organizacional, Autocriticismo e Autocompaixão em Profissionais/Cuidadores Formais que Trabalham com Pessoas com Deficiência/Doença Mental

Introdução: Alguns estudos internacionais e nacionais têm-se dedicado a estudar as caraterísticas psicológicas de profissionais/cuidadores que trabalham na área da prestação de cuidados a pessoas com doença e deficiência mental. Porém, segundo temos conhecimento são escassos ou mesmo inexistentes os estudos que abordem os níveis de autocriticismo, autocompaixão e comprometimento organizacional destes profissionais/cuidadores. Foram nossos objetivos: caraterizar uma amostra de cuidadores formais/profissionais que trabalham com pessoas com doença e deficiência mental em diferentes variáveis sociodemográficas e profissionais; analisar os níveis de autocriticismo, autocompaixão e comprometimento organizacional destes cuidadores formais/profissionais, bem como explorar as associações entre todas estas variáveis (entre si e com as variáveis sociodemográficas e profissionais). Metodologia: 55 cuidadores formais de pessoas com doença/deficiência mental (sexo feminino/n = 49, 84,5%; idade média de 45,21; DP = 10,92; variação = 22-65) preencheram um questionário sociodemográfico, o Questionário de Comprometimento Organizacional, a Escala das Formas do Autocriticismo e Autotranquilização e a Escala de Autocompaixão. Resultados: O Eu inadequado apresentou um valor médio bastante maior que o Eu detestado. O valor médio do Eu tranquilizador foi superior a qualquer dimensão de autocriticismo. O Calor-Compreensão (autocompaixão) apresentou o valor médio mais elevado e a Autocrítica o valor médio mais baixo. O Eu inadequado e detestado associaram-se positivamente às dimensões negativas de autocompaixão e o Eu tranquilizador às dimensões positivas de autocompaixão. O Comprometimento Afetivo associou-se positivamente ao Autocriticismo total. O Comprometimento Calculativo associou-se positivamente ao Eu detestado, que foi seu preditor. O Comprometimento Normativo associou-se de forma positiva ao Eu detestado, Autocriticismo total e idade negativamente ao Mindfulness. A idade foi o seu preditor. O Comprometimento Afetivo associou-se positivamente aos meses de trabalho na instituição, que foram seus preditores. Os cuidadores com um familiar com deficiência mental tiveram um valor mais baixo de Eu inadequado. Discussão: No geral, esta amostra de cuidadores formais apresentou caraterísticas psicológicas que nos tranquilizam quanto ao papel que desempenham junto de pessoas com doença/deficiência mental, mas as instituições devem sempre encontrar formas de estimular os níveis de comprometimento e autocompaixão dos seus profissionais. / Introduction: Some international and national studies have focused on studying the psychological characteristics of professionals/caregivers working with people with mental disease and intelectual disability. However, to our knowledge, the studies exploring levels of selfcriticism, self-compassion and organizational commitment in these professionals are scarce or even nonexistent. Our goals were to: characterize a sample of formal caregivers/professionals who work with people with mental illness and intellectual in different sociodemographic and professional variables; analyze the levels of selfcriticism, self-compassion and organizational commitment of these formal caregivers/professionals, as well as explore the associations between all these variables (with each other and with the sociodemographic and professional variables and professionals). Methodology: 55 caregivers of people with mental disease/intelectual disability (female/n = 49, 84.5%; mean age of 45,21; DP = 10,92; variation = 22-65) completed a sociodemographic questionnaire, the Organizational Commitment questionnaire, the Forms of Self Criticism Rating Scale and the Self- Compassion Scale. Results: Inadequate Self had na higher mean value than the Hated Self. The mean value of the Reassuring Self was higher than any dimension of selfcriticism. Self-Kindness was the one with a higher mean value (of self-compassion) and Self-Judjment the one with the lowest mean value. The Inadequate Self and the Hated Self were positively associated with the negative dimensions of selfcompassion and the Reassuring Self with the positive dimensions of selfcompassion. The Affective Commitment was positively associated to total selfcriticism. The Continuance Commitment was associated with the Hated Self (positively), being its predictor. The Normative Commitment was positively associated to the Hated Self, the total selfcriticism and age and negatively to Mindfulness. Age was its predictor. The Affective Commitment was positively associated to months of work at the institution. This variable was its predictor. Professionals with a family member with intellectual disability had a lower value of Inadequate Self. Discussion: In general, this sample of formal caregivers presented psychological characteristics that reassure us about the role that they have while working with people with mental disease/intellectual disability, but the institutions must always find ways of stimulating the commitment and selfcompassion levels of their professionals.

La discapacidad intelectual y el ámbito penitenciario

Este estudio pretende determinar la prevalencia de discapacidad intelectual en una muestra de la población penitenciaria española, ubicada en módulos residenciales. Se pretende, por otro lado, obtener datos sobre la prevalencia de discapacidad intelectual en unidades y hospitales psiquiátricos penitenciarios.

La atención educativa al alumnado de educación especial en Europa

Las personas con discapacidad intelectual son uno de los grupos sociales más desfavorecidos en los países europeos. Este estudio recoge y describe las principales líneas de apoyo al alumnado con discapacidad intelectual en Europa a través de una descripción de los tres países representativos (Finlandia, Francia y Alemania). Con el fin de hacer comparaciones entre los diferentes países, se identificaron varios elementos clave: evaluación de diagnóstico y elección del tipo de centro, tipos de escolarización, medidas de apoyo específico profesorado, evaluación y certificación. Finalmente, se concluye con una breve reflexión sobre el impacto de los diferentes tipos de apoyo en Europa, abordando las políticas específicas relacionadas con la atención educativa de los alumnos con discapacidad intelectual.

Understanding the genetic basis of phenotype variability in individuals with neurocognitive disorders

Thesis (Ph.D.)--University of Washington, 2016-06

Neuropsychiatric disease (NPD) clustering in families with Autism Spectrum Disorder (ASD): genetic, epigenetic and environmental issues

Autism Spectrum Disorder (ASD) is a neurodevelopmental disorder characterized by deficits in social communication/interaction and by unusual repetitive and restricted behaviors and interests. ASD often co-occurs in the same families with other neuropsychiatric diseases (NPD), such as intellectual disability, schizophrenia, epilepsy, depression and attention deficit hyperactivity disorder. Genetic factors have an important role in ASD etiology. Multiple copy number variants (CNVs) and single nucleotide variants (SNVs) in candidate genes have been associated with an increased risk to develop ASD. Nevertheless, recent heritability estimates and the high genotypic and phenotypic heterogeneity characteristic of ASD indicate a role of environmental and epigenetic factors, such as long noncoding RNA (lncRNA) and microRNA (miRNA), as modulators of genetic expression and further clinical presentation. Both miRNA and lncRNA are functional RNA molecules that are transcribed from DNA but not translated into proteins, instead they act as powerful regulators of gene expression. While miRNA are small noncoding RNAs with 22-25 nucleotides in length that act at the post-transcriptional level of gene expression, the lncRNA are bigger molecules (>200 nucleotides in length) that are capped, spliced, and polyadenylated, similar to messenger RNA. Although few lncRNA were well characterized until date, there is a great evidence that they are implicated in several levels of gene expression (transcription/post-transcription/post-translation, organization of protein complexes, cell– cell signaling as well as recombination) as shown in figure 1.

The clinical significance of 15q11.2 BP1-BP2 duplications: - Where do we stand?

The 15q11.2-q13 region has been well characterized, being associated with a range of syndromatic copy number variants (CNVs), and comprises five established break points sites (BP1 to BP5). While the clinical effect for BP1-BP3, BP2-BP3 and BP4-BP5 CNVs is well established, the same cannot be said for BP1-BP2 CNVs. Recently the 15q11.2 BP1-BP2 deletion has been reviewed, emerging as a microdeletion syndrome with low penetrance and variable expressivity being the CNV frequently inherited from a healthy parent. This microdeletion is considered to be a risk factor for several neurodevelopment disorders. For the reciprocal duplication the picture has been less conclusive. Aiming for a better understanding of the clinical significance of this CNV, we collected patients with intellectual disability and/or other clinical features, referred for microarray testing, gathering clinical details for the ones with the duplication. Data was collected from two genetic laboratories. With a total of 1545 patients, we identified eleven carrying the duplication at 15q11.2 BP1-BP2. It was possible to assess inheritance in only four cases, all inherited from a healthy parent. All patients presented intellectual disability,and facial dysmorphism was the second most common feature observed. Microcephaly, autism, congenital abnormalities, dystonia and cataplexy where reported individually. The magnitude of the effect of 15q11.2 duplication remains elusive, and the outcome unclear, posing a major challenge to genetic counseling. Nevertheless, we expect the collection of more of these cases will establish this gain, as it happened with the reciprocal deletion, as a microduplication syndrome with low penetrance and variable expressivity.

A 1.77 Mb deletion in 3p26.3 encompassing CNTN6 and CNTN4 genes: case report

Chromosome microarray analysis is a powerful diagnostic tool and is being used as a first-line approach to detect chromosome imbalances associated with intellectual disability, dysmorphic features and congenital abnormalities. This test enables the identification of new copy number variants (CNVs) and their association with new microdeletion/microduplication syndromes in patients previously without diagnosis. We report the case of a 7 year-old female with moderate intellectual disability, severe speech delay and auto and hetero aggressivity with a previous 45,XX,der(13;14)mat karyotype performed at a younger age. Affymetrix CytoScan 750K chromosome microarray analysis was performed detecting a 1.77 Mb deletion at 3p26.3, encompassing 2 OMIM genes, CNTN6 and CNTN4. These genes play an important role in the formation, maintenance, and plasticity of functional neuronal networks. Deletions or mutations in CNTN4 gene have been implicated in intellectual disability and learning disabilities. Disruptions or deletions in the CNTN6 gene have been associated with development delay and other neurodevelopmental disorders. The haploinsufficiency of these genes has been suggested to participate to the typical clinical features of 3p deletion syndrome. Nevertheless inheritance from a healthy parent has been reported, suggesting incomplete penetrance and variable phenotype for this CNV. We compare our patient with other similar reported cases, adding additional value to the phenotype-genotype correlation of deletions in this region.