People with developmental disabilities are particularly susceptible to health challenges. If they are not capable of making treatment decisions, they rely on substitute decision makers to make decisions for them. In this research, I examined the experiences of families who have made decisions for their relatives with developmental disabilities when the individual’s wishes were unknown. Using a naturalistic, qualitative research design and an interpretive description approach, eleven family members, representing eight families who had made decisions for their relatives with developmental disabilities, were recruited in order to obtain data about their experiences. The data were analyzed in order to reconstruct current knowledge and interpret findings through a nursing theoretical lens. In my findings, I demonstrate that families of people with developmental disabilities are marginalized by the experience. They actively engage in lifelong processes and seek out community resources to support their relatives. The findings suggest that professionals should consider the processes, experiences and consequences of marginalization when supporting families of people with developmental disabilities.

Pervasive developmental disorders are a group of neurodevelopmental-neuropsychiatric disorders that are characterized by variable and severe pervasive impairments in several areas of child development, notably social interaction, communication and imagination. They all share clinical features but differ in the severity and age of onset of the impairments. Except for Rett Syndrome (RTT), the etiology of these disorders is unknown, but there is strong evidence that genetic factors contribute to their pathogenesis. While no major genes have been linked to theses disorders linkages, association and chromosomal studies suggest that many loci may be involved. / One aim of the present study was to search for genetics variants associated with autism and other related disorders. This study represents the first family-based association study looking at the entire X chromosome using a French-Canadian autistic population, a genetically homogenous group. We found association between autism and markers at two loci. Our results support the existence of a putative gene located on the X chromosome and moreover the founder effect, in the French-Canadian population, may provide greater power to fine map disease genes especially in complex traits. / The second aim of the present thesis was to confirm the involvement of the MECP2 gene in our RTT group of patients. While we confirm the presence of mutations in this gene in our cohort of RTT patients we also demonstrated that clinical stringency greatly influences the mutation detection rate for this disorder.

BACKGROUND: Oral communication impairments (OCIs) are a common childhood problem with often long-term negative outcomes for both the child and society. Despite the growing body of knowledge about the epidemiology of this problem, the shift from traditional treatment approaches to population based approaches to management has been slow. One suggested reason for this is a lack of community based population data on such problems with which to plan services more broadly. AIM: The aim of this thesis is to contribute to the population knowledge of children with OCIs by developing and trialing a data collection method at a community level. LITERATURE REVIEW: One of the major issues in understanding OCIs from a population perspective is the disparate and often incongruent nature of epidemiological data reported in the literature. Five areas of epidemiological research were reviewed in order to critically evaluate the existing evidence base and identify gaps for further research. The five areas reviewed were: Prevalence (Regardless of the methodology used to collect prevalence data, OCIs have been described as a common childhood problem), Life Course (Children with OCIs often have ongoing communication problems and are at risk for poorer life outcomes in social, educational and occupational domains), Comorbidities (OCIs rarely occur in isolation and most children will have other developmental or health issues), Risk factors (There is no one easily definable cause of OCIs, however, genetic and environmental factors appear to increase the risk of OCI in the general population), and Service use (Only around half of children with recognised OCIs will access specialist intervention services).The review concluded that local community data measuring the 'burden', or impact, of the problem, comorbidities and service use in children with and without OCIs would assist in service planning. Therefore a methodology would need to be developed which addressed these issues.A further review of the literature considered this methodology development with specific reference to the issues of study design, sampling and identification of OCIs. The review concluded that a cross-sectional survey design of a community sample could provide the necessary data. Parent and teacher report was suggested as a method for identifying OCIs in surveys, however, a tool needed to be developed and trialed to ensure this method was effective, valid and reliable. PILOT STUDY: A survey tool for parents was designed which included the Child Health Questionnaire (PF - 28), questions relating to socio-demographic features, health and development conditions, service use and specifically developed questions regarding OCIs. The survey methodology was trialed in one school and one childcare centre. The results of the study were reviewed and suggestions made for methodological changes before a community trial was carried out. The reliability and validity of the questions designed to identify OCIs was assessed in a number of ways. Test-retest reliability of parent completed questionnaires proved to be good. Interrater reliability was examined by comparing parent and teacher responses. Parents and teachers agreed on identification of OCI in over 75% of cases for each of the OCIs studied. Criterion validity was assessed by comparing parent report to speech pathologist evaluation in a clinical sample and by comparing parent and teacher report to screening assessments of communication skills in a school sample. Both parents and teachers tended to over-identify children, however, when parent and teacher reports were considered together the validity approached that of the 'gold standard'. Construct validity was assessed by comparing reported OCIs with reports of other developmental conditions known to be commonly comorbid with OCIs. Once again using both parent and teacher report proved to be the most valid method of identifying OCIs using the developed tool. COMMUNITY STUDY: A targeted community survey of 3 to 7 year old children was conducted in a regional centre in Queensland, Australia. Children were sampled through schools and childcare centres. Information letters were distributed to the parents of 898 eligible children. Completed questionnaires were received for 397 children. Teachers completed questionnaires on 375 children which was 42% of the population sampled. Parents and teachers identified OCIs in 16% of the children. However, only 3% of the population were rated by parents or teachers as having severe problems. Over 70% of parents and teachers of children with a reported OCI rated the problem as having an impact on the child's life. Ratings of impact were not related to parent/teacher ratings of severity. Children with OCIs were reported to have significantly more health, developmental and behaviour problems than their peers. Children with OCIs were rated lower by their parents on most aspects of the Child Health Questionnaire (PF-28). In particular, parents reported impacts on their own time and family activities due to the child's problems. No significant differences were found between children with and without reported OCIs on any of the socio-demographic variables studied. Children with reported OCIs used more health and educational services than their peers. Around 60% of children with reported OCIs had seen a speech pathologist, but many parents had also sought advice from a range of other health and educational professionals. Those with two or more OCI conditions were more likely to have seen a professional, however socio-demographic variables did not generally predict service use. Parents reported that the type of service they chose was most commonly influenced by advice from a doctor or teacher. The limitations of this methodology for collecting this type of data are discussed. However despite these limitations data were collected which has major implications for the provision of population based services for children with OCI. CONCLUSION: This thesis has contributed to the understanding of children with OCIs by researching the development of a methodology to study this problem in a defined community sample. The information gained from the literature review and the community study were considered within two models of service provision. The models encompass service delivery from individualised to more population based approaches to the management of OCIs in children. From these models, specific suggestions for the community involved in the study were discussed. This thesis, therefore, provided a survey methodology that is resource efficient in the collection of community data useful in suggesting improved services for children with oral communication impairments.

Diss. Linköping : Linköpings universitet, 2006.

People with developmental disabilities are particularly susceptible to health challenges. If they are not capable of making treatment decisions, they rely on substitute decision makers to make decisions for them. In this research, I examined the experiences of families who have made decisions for their relatives with developmental disabilities when the individual’s wishes were unknown. Using a naturalistic, qualitative research design and an interpretive description approach, eleven family members, representing eight families who had made decisions for their relatives with developmental disabilities, were recruited in order to obtain data about their experiences. The data were analyzed in order to reconstruct current knowledge and interpret findings through a nursing theoretical lens. In my findings, I demonstrate that families of people with developmental disabilities are marginalized by the experience. They actively engage in lifelong processes and seek out community resources to support their relatives. The findings suggest that professionals should consider the processes, experiences and consequences of marginalization when supporting families of people with developmental disabilities.

Independent living skills are extremely important for individuals with developmental disabilities as these skills aide in autonomy, lessen the burden on caregivers, and assist with integration into the community. An important skill that should be targeted is purchasing skills. Teaching purchasing skills can bring individuals into contact with new environments and access to items that would not have been available for them to access independently before learning the skill. Traditional purchasing skills often target teaching money and math skills. However, as technology advances, these skills are not only hard to teach to various individuals but may be outdated. There have been a few studies that targeted teaching purchasing skills to individuals using forms other than cash. This study taught debit card purchasing skills using a multiple baseline across participants design to individuals with developmental disabilities and evaluated the effects of using multiple exemplar training on generalization to novel settings. All three study participants showed improved performance after training by demonstrating 87% or more of the steps accurately in the natural setting during post-training generalization probes to the trained stores (average across the three participants and three stores was 90%). Two out of three participants generalized the skill to a novel store with at least 90% accuracy. The third participant generalized the skill to a novel store with 83% accuracy. Maintenance probes were conducted for two of the three participants and those two participants were able to maintain the skill well above baseline accuracy.

Mutações inativadoras do receptor de GnRH (GNRHR) são a causa genética mais frequente de hipogonadismo hipogonadotrófico isolado (HHI) normósmico. Os genes envolvidos da patogênese do HHI, incluindo o GNRHR, estão associados a um amplo espectro fenotípico, variando de HHI parcial a completo. O atraso constitucional do crescimento e desenvovimento (ACCD) poderia constituir uma variante fenotípica leve do HHI. Neste estudo avaliamos a frequência de mutações no gene GNRHR em pacientes com HHI normósmico e ACCD, bem como correlacionamos o genótipo/fenótipo nesses pacientes. Além disso, avaliamos o efeito fundador de uma mutação do GNRHR (p.R139H) frequente na população brasileira com HHI normósmico. Para esse estudo, selecionamos 116 pacientes com HHI normósmico e 51 com ACCD. Um grupo de 130 indivíduos com desenvolvimento puberal normal foi utilizado como controle. A região codificadora do gene GNRHR foi amplificada por PCR e sequenciada. Análises in silico e in vitro foram realizadas nas duas novas variantes (p.V134G e p.Y283H). Três marcadores de microssatélites (D4S409, D4S2387, D4S3018) foram amplificados e analisados nos pacientes portadores da mutação p.R139H, familiares e controles. No grupo de HHI normósmico, nove mutações (p.N10K,p.Q11K, p.Q106R, p.R139H, p.C200Y, p.R262Q, p.Y284C, p.Y283H, p.V134G) foram identificadas em onze pacientes (9,5%). Entre as mutações identificadas no GNRHR, duas foram descritas pela primeira vez no estudo atual: p.Y283H e p.V134G, cuja análise in vitro demonstrou inativação completa do receptor. Em geral, uma boa correlação genótipo-fenótipo foi observada. Pacientes portadores de mutações inativadoras apresentavam HHI completo e mutações com perda parcial de função causavam HHI parcial, incluindo dois pacientes que evoluíram com reversão do hipogonadismo após reposição androgênica. Por outro lado, não houve diferença fenotípica entre os casos com e sem mutação do GNRHR. Análise de ancestralidade genética da mutação p.R139H demonstrou que todos os casos brasileiros apresentaram o mesmo haplótipo, sugerindo que a mutação p.R139H possui um ancestral comum na população brasileira. Por outro lado o caso familial proveniente da Polônia apresentou apenas um marcador em comum com as famílias brasileiras e estudos mais abrangentes seriam necessários para determinar a origem da mutação p.R139H em indivíduos não Brasileiros. Na casuística de ACCD apenas a mutação p.Q106R foi identificada no gene GNRHR em heterozigose em um paciente. Em conclusão, o GNRHR foi o gene mais comumente afetado, apresentando uma boa correlação genótipo-fenótipo, e deve ser o primeiro candidato para análise genética em HHI normósmico. Os resultados sugerem que a mutação p.R139H possui um ancestral comum na população brasileira. Mutações no GNRHR parecem não estar envolvidas na patogênese do ACCD / GnRH receptor (GNRHR) inactivating mutations are the most common genetic cause of normosmic IHH. The genes involved in the IHH, including GNRHR, have been associated with a large phenotypic spectrum, varying from partial to complete IHH. Constitutional delay of growth and puberty (CDGP) might represent a mild phenotypic variant of IHH. In this study we investigated novel variants and characterized the frequency and phenotype-genotype correlation of GNRHR mutations in normosmic IHH and CDGP patients. Additionally, we determined de cause of the recurrence of GNRHR p.R139H mutation in patients with normosmic IHH. We studied 116 patients with normosmic IHH and 51 with CDGP. The control group was composed by 130 adults with normal pubertal development. The coding region of GNRHR was amplified and automatically sequenced. The two novel variants identified (p.Y283H, p.V134G) were submitted to in silico and in vitro analysis. Three microsatellite markers (D4S409, D4S2387, D4S3018) were amplified by PCR and analyzed in the patients with the p.R139H mutation. In the CDGP group, the previously described mutation p.Q106R was identified in the heterozygous state in one boy. The p.Q106R mutation has been identified in heterozygous state in individuals with normal pubertal development and does not appear be involved on the CDGP phenotype in this patient. In the normosmic IHH group, nine variants were identified (p.N10K, p.Q11K, p.Q106R, p.R139H, p.C200Y, p.R262Q, p.Y284C, p.Y283H, p.V134G) in eleven patients (9.5%). In vitro analysis of the novel variants p.Y283H and the p.V134G demonstrated that both of them cause complete loss of function of the receptor. The founder effect study revealed that all the p.R139H affected Brazilian patients presented the same haplotype, suggesting that the this mutation has a common ancestor in the Brazilian population. Nevertheless the affected Polish family presented a different haplotype, with only one marker in common with the Brazilian families and further studies would be necessary to determine the origin of the p.R139H mutation in the European population. In conclusion this study demonstrated that GNRHR was the most commonly affected gene in normosmic IHH, with a good genotype-phenotype correlation, and should be the first candidate gene for genetic screening in this condition. The results of the founder effect study suggested that the p.R139H mutation has a common ancestor in the Brazilian population. Finally, mutations in the GNRHR do not appear to be involved in the pathogenesis of CDGP

Orientador: Heloisa Gagheggi Ravanini Gardon Gagliardo / Dissertação (mestrado) - Universidade Estadual de Campinas, Faculdade de Ciências Médicas / Made available in DSpace on 2018-08-26T18:58:27Z (GMT). No. of bitstreams: 1 Nascimento_GabrielaCordeiroCorreado_M.pdf: 4064670 bytes, checksum: a3ababd90e28337dc1470483b057a080 (MD5) Previous issue date: 2014 / Resumo: As alterações visuais podem causar impactos no desenvolvimento infantil e em funções diretamente relacionadas à visão, trazendo repercussões ao indivíduo e à sociedade. A literatura ressalta a alta incidência dessas alterações em pessoas com outras alterações no desenvolvimento. Este estudo objetivou conhecer, descrever e analisar a realidade da atenção à saúde ocular de crianças com alterações no desenvolvimento que frequentam serviços de intervenção precoce no município de Curitiba/PR. Para tanto, a pesquisa constituiu-se de um levantamento, exploratório e descritivo, que contou com a aplicação de questionários com representantes institucionais, profissionais da equipe dos serviços de intervenção precoce e mães ou cuidadores das crianças atendidas nestes serviços. Os dados obtidos receberam tratamento estatístico através dos softwares Sistema de Análise Estatística SAS 9.3, Wolfram Mathematica e Microsoft Excel. A amostra constituiu-se de 19 representantes institucionais, 142 profissionais do serviço de intervenção precoce e 273 mães ou cuidadores das crianças atendidas, totalizando 434 sujeitos. Em relação às instituições predominaram aquelas do 3º setor (47,4%), que atuam na área da educação (73,7%), com a clientela com múltiplas deficiências e deficiência intelectual (47,4%), que consideram que o serviço de intervenção precoce engloba crianças de 0 a 3 anos de idade (84,2%). Referente aos profissionais deste serviço prevaleceram professores (36,6%), predominando o grau de escolaridade de graduação (99,3%) e aqueles que atuam há mais de 10 anos em um serviço de intervenção precoce (29,6%). As equipes foram classificadas como sendo multidisciplinar (62%) e 47,9% dos profissionais declararam que realizam encaminhamento das crianças ao oftalmologista. Um número expressivamente baixo de profissionais declarou que realiza ações no campo da promoção da saúde ocular (10,6%) e da prevenção de deficiências visuais (11,3%). Houve prevalência da participação das mães (84,2%), de crianças entre 1 e 2 anos de idade (34,8%), e, na sua maioria, com Síndrome de Down (26,7%). A média de idade de entrada nos serviços de intervenção precoce foi de 7,93 meses e da idade na primeira consulta com o oftalmologista - daqueles que já haviam realizado (82,8%) - foi de 6,8 meses, sendo que 45,6% apresentou alterações oftalmológicas, predominando o estrabismo (40,8%). A análise dos resultados revelou que realizar o teste do olhinho e a mãe receber orientação quanto ao desenvolvimento da visão são fatores que agem como facilitadores de um início mais precoce nesse tipo de serviço; e que a orientação à mãe sobre o desenvolvimento da visão é um agente facilitador para a ida ao oftalmologista precocemente. As principais ações de atenção à saúde ocular descritas pelos profissionais referem-se à distribuição de material informativo, orientação, encaminhamento ao oftalmologista e estimulação visual. Considerando a saúde ocular como campo de atenção primária destaca-se a importância das mesmas terem seu inicio neste nível de atenção e com enfoque preventivo. O estudo favoreceu o entendimento da atenção à saúde ocular de crianças com alterações no desenvolvimento, a ampliação do conhecimento nesta área e deve vir a subsidiar ações futuras de educação em saúde e detecção e atenção oportuna às alterações visuais dessa população / Abstract: The visual changes can cause impacts on child development and functions directly related to vision, bringing repercussions for the individual and the society. The literature highlights the high incidence of these changes in people with other developmental disorders. This study aimed to describe and analyze the reality of attention to eye health of children with developmental disorders who attend early intervention services in Curitiba/PR. To this end, the research consisted of a exploratory and descriptive survey, which included the use of questionnaires with institutional representatives, professional team of early intervention and mothers or caretakers of children served in these services. The data received through statistical analysis software SAS Statistical Analysis System 9.3, Wolfram Mathematica and Microsoft Excel. The sample consisted of 19 institutional representatives, 142 professionals of the early intervention services and 273 mothers or caregivers of children served, totaling 434 subjects. For institutions predominated those of 3rd sector (47.4%), working in the area of education (73.7%), with clients with multiple disabilities and intellectual disabilities (47.4%), with the believes that early intervention service includes children 0-3 years of age (84.2%). Referring to the professional service prevailed teachers (36.6%), predominantly undergraduate schooling (99.3%) and those who work for more than 10 years in a early intervention service (29.6%). The teams were clategorized as multidisciplinary (62%) and 47.9% of professionals stated thad perform referral of children to an ophthalmologist . A expressive lower number of professionals stated that performs actions in the field of promotion of eye health (10.6%) and prevention of visual impairment (11.3%). The prevalence of participation was mothers (84.2%) of children between 1 and 2 years of age (34.8%), and mostly with Down Syndrome (26.7%). The average age of entry into early intervention services was 7.93 months and the age at first visit to an ophthalmologist - who had already performed (82.8%) - was 6.8 months, witch 45,6% had ophthalmologic abnormalities, predominating strabismus (40.8%). The results revealed that performing the eye test and the mothers receive guidance on the development of vision are factors that act as facilitators of an earlier onset in this type of service; and guidance to the mother on the development of vision is a facilitator for going to an ophthalmologist earlier. The main actions of attention to eye health described by professionals was referring to the distribution of information material, counseling, referral to ophthalmologists and visual stimulation. Considering the field of eye health as primary care highlights the importance of its beginning at this level of care with a preventive approach. The results favored the understanding of eye health care of children with developmental disorders, the expansion of knowledge in this area and must come to inform future actions of health education and detection and timely attention to visual impairment in this population / Mestrado / Interdisciplinaridade e Reabilitação / Mestra em Saúde, Interdisciplinaridade e Reabilitação

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