Thèses : « Prader »

1

Boer, Gezinus Harm. « Behavioural studies in Prader-Willi Syndrome ». [Maastricht] : Maastricht : UPM, Universitaire Pers Maastricht ; University Library, Maastricht University [Host], 2004. http://arno.unimaas.nl/show.cgi?fid=7679.

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Bull, Leah Elizabeth. « Understanding and changing behaviour in Prader-Willi syndrome ». Thesis, University of Birmingham, 2014. http://etheses.bham.ac.uk//id/eprint/5037/.

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The thesis reviewed evidence of the behavioural characteristics associated with Prader-Willi syndrome (PWS) and how cross-sectional data has suggested that these may change with age, with a view to informing potential avenues and timescales for behavioural intervention. One highly plausible avenue identified that may be targeted for intervention arises from the finding that temper outbursts caused by change to routine or expectation are common within PWS. Longitudinal data collected over an eight year period explored changes in behaviour with age in people with PWS, finding that several phenotypic behaviours appear to peak around adolescence and decline in adulthood. In the remaining empirical studies, possible pathways to interventions to reduce temper outbursts in people with PWS were explored. It was shown that as someone has been exposed to a routine for longer they show more behavioural difficulties and higher arousal following a change. These data demonstrate potential utility for development of early interventions. An informant reported behaviour diary was validated and used to evaluate a stimulus control intervention to reduce temper outbursts. This intervention reduced temper outburst behaviour following specific changes as evidenced by structured observations, and reduced the number of temper outbursts shown in daily life by most participants.

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Purmann, Carolin. « The role of SNORD116 in Prader-Willi syndrome ». Thesis, University of Cambridge, 2012. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.610424.

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Ferreira, Sandra Guillot François. « Le syndrome de Willi-Prader ses caractéristiques, sa prise en charge et son suivi / ». Créteil : Université de Paris-Val-de-Marne, 2005. http://doxa.scd.univ-paris12.fr:80/theses/th0233573.pdf.

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5

Dunne, Cheryl Kelly. « Phonology in Prader-Willi syndrome : An optimality theory account ». Thesis, University of Ulster, 2010. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.526966.

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6

Bull, Leah Elizabeth. « Self-injurious behaviour in people with Prader-Willi syndrome ». Thesis, University of Birmingham, 2015. http://etheses.bham.ac.uk//id/eprint/6147/.

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Volume one contains a systematic literature review, an empirical chapter and a public domain briefing. The review explored the phenomenology of skin picking (a self-injurious behaviour) in people with Prader-Willi syndrome (PWS). A number of characteristics were well described with some areas of limited research, e.g. frequency and duration. Skin picking in people with PWS and in the typically developing population was compared showing that there were more similarities than differences. The empirical chapter further explored the phenomenology of skin picking in people with PWS and associated management techniques by using a semi-structured interview. Informants reported on the age of onset, frequency and duration of skin picking, type of skin picked, damage caused, antecedents and the influence of pain. The most common management strategy used by parents and carers was distraction and the majority of participants with PWS did not have their own management strategy to try to reduce skin picking. Results of both chapters are discussed within the context of previous research and the clinical implications are considered. Volume two contains five clinical practice reports conducted at various mental health services; a models essay, a service evaluation, a single case experimental design and two case studies.

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Massiot, Hélène. « Syndrome de Prader-Willi : à propos de deux observations et étude génétique ». Bordeaux 2, 1995. http://www.theses.fr/1995BOR2M035.

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8

Relkovic, Dinko. « Behavioural characterization of a mouse model for Prader-Willi syndrome ». Thesis, University of Cambridge, 2010. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.608625.

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9

Nunes, Jessica. « "Finns det några vardagshjältar är det alla som lever varje dag med PWS" : En kvalitativ studie om vårdares upplevelser kring kost och autonomi hos vuxna med Prader-Willis syndrom ». Thesis, Umeå universitet, Institutionen för kostvetenskap, 2015. http://urn.kb.se/resolve?urn=urn:nbn:se:umu:diva-111306.

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Bakgrund Prader-Willis syndrom (PWS) är en genetisk mutation och drabbar cirka 8-10 barn per år i Sverige. Personer med syndromet upplever en ständig hunger och har en tvångsmässig relation till mat, samtidigt som de har ett lågt energibehov. Drabbade personer löper stor risk för fetma och behöver en diet med kalorirestriktion samt mycket fysisk aktivitet, och personer med PWS behöver ständig tillsyn av vårdare och anhöriga. Eftersom PWS är komplext med flertalet svårigheter är det angeläget att utforska hur vårdare upplever sitt arbete med vuxna som har PWS. Syfte Att undersöka hur vårdare upplever att arbeta med vuxna med PWS när det kommer till kosten, hälsoförebyggande åtgärder samt de boendes autonomi. Metod Fem semi-strukturerade intervjuer genomfördes med vårdare på ett boende i Sverige för vuxna med PWS. Intervjuerna spelades in digitalt via mobiltelefon och transkriberades sedan ordagrant. Data analyserades med kvalitativ innehållsanalys och meningsbärande enheter skapade koder och kategorier som sedan formade rubriker till resultatet. Resultat Informanterna upplevde stort ansvar kring de boendes liv och hade hand om allt kring exempelvis kost och ekonomi. De upplevde att mat utgjorde grunden till flertalet konflikter som ofta ledde till aggressivitet och känslomässiga reaktioner hos de boende. De upplevde även ett dilemma mellan att värna om de boendes hälsa och att uppmuntra till deras självbestämmande. Motion och aktiviteter var något som prioriterades högt på boendet. Slutsats Vårdarna upplevde flertalet svårigheter när det kom till kost och kände ett stort ansvar för de boende. Att finna balans mellan att värna om de boendes hälsa och självbestämmande var ett gemensamt problem. Samtliga ansåg att boendet arbetade aktivt med hälsoförebyggande åtgärder och att de boende fick goda möjligheter till motion och aktivitet.
Background Prader-Willi syndrome (PWS) is a genetic mutation which affects around 8-10 children each year in Sweden. People with this syndrome experience constant hunger and have an obsessive relationship with food, moreover, they also have a lower energy requirement. People with PWS run the risk of becoming obese and are in need of a diet that restricts the caloric intake, they also need increased physical activity. People with PWS are in need of constant surveillance from caregivers. Since PWS is complex with multiple issues it is of interest to explore how caregivers experience their work with adults with PWS. Objective To explore how caregivers experience working with adults with PWS when it comes to food and physical activity, as well as their residents’ autonomy. Method Five semi structured interviews were conducted with caregivers at a group home in Sweden for adults with PWS. The interviews were recorded digitally using a mobile phone and then transcribed. The data was analysed using qualitative content analysis and meaning units created codes and categories which then formed the headlines of the result section. Result The caregivers experienced great responsibility for the residents and took care of everything from their food to their economy. They felt that food was the basis of many conflicts which often could result in aggression and emotional outbursts. They also experienced a dilemma between caring for the residents’ health and encouraging their autonomy. Physical exercise and activities was a priority at the group home. Conclusion The caregivers experienced numerous difficulties when it came to food and felt great responsibility for the residents. To find a balance between caring for the residents’ health and autonomy was a common problem. All informants felt that the group home worked with health promoting measures and that the residents got a lot of exercise and activity.

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10

Lindgren, Ann Christin. « Prader-Willi syndrome : diagnosis and effects of growth hormone treatment / ». Stockholm, 1998. http://diss.kib.ki.se/1998/91-628-3135-6/.

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Krafft, Julia Katharina [Verfasser]. « Nebennierenrindenfunktion bei Kindern mit Prader-Willi-Syndrom / Julia Katharina Krafft ». Berlin : Medizinische Fakultät Charité - Universitätsmedizin Berlin, 2017. http://d-nb.info/114048687X/34.

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Festen, Dederieke Anne Maria. « Prader-Willi syndrome clinical aspects and effects of growth hormone treatment / ». [S.l.] : Rotterdam : [The Author] ; Erasmus University [Host], 2007. http://hdl.handle.net/1765/10645.

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Mendonca, Willonie. « Impact of the characteristic behaviors of patients with Prader-Willi syndrome ». Cleveland, Ohio : Case Western Reserve University, 2009. http://rave.ohiolink.edu/etdc/view?acc%5Fnum=case1252073810.

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Mendonca, Willonie. « Impact of the characteristic behaviors of patients with Prader-Willi syndrome ». Case Western Reserve University School of Graduate Studies / OhioLINK, 2010. http://rave.ohiolink.edu/etdc/view?acc_num=case1252073810.

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15

Allen, Kerry Jane. « Managing the body ? : the experience of Prader-Willi syndrome within families ». Thesis, University of Leicester, 2007. http://hdl.handle.net/2381/30719.

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Prader-Willi syndrome (PWS) is a rare chromosome disorder, which has among its clinical sequela an intense interest in food, which may develop into an insatiable obsession, likened to addiction. The level of control over diet and the body required within PWS is very hard for people to achieve alone, since the majority of sufferers experience various forms of learning disability, autistic-spectrum disorders, developmental delay and behavioural problems. The thesis is particularly concerned with developing an understanding of the management of diet and food within the household and other everyday practices affecting the body or the child with PWS. The research is based on data from twenty qualitative case studies of English families which incorporate a child with PWS between the ages of eleven and fifteen years. The twenty families are purposively sampled to reflect difference in socio-economic status and family structure. Analysis of management strategies highlights the centrality of embodied agency in directing everyday practices and actions, this being particularly apparent in children with PWS as their experience of embodiment and emotion differs significantly from other family members. Focusing on the multi-dimensional nature of processes surrounding body management, the research identifies management practices and values of family members which guide these. The thesis also addresses the patterning of management strategies by social factors of family structure and socio-economic status. The work relates to contemporary sociological studies of the experience of chronic illness and disability in childhood, food, the body and the family, and contributes to current debates about embodiment, agency and health inequalities. Located in the intersections of the sociology of health and illness, disability studies and social theory, the study represents the first UK empirical sociological study of PWS.

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KARP, JEAN-CLAUDE. « Le syndrome de prader - labhart - willi : revue de la litterature a propos de 17 observations ». Nancy 1, 1988. http://www.theses.fr/1988NAN11297.

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17

Poyatos, Andújar David. « Diagnóstico citogenético y molecular de los síndromes de Prader-Willi y Angelman ». Doctoral thesis, Universitat Autònoma de Barcelona, 2005. http://hdl.handle.net/10803/3762.

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Los síndromes de Prader-Willi (SPW) y de Angelman (SA) son dos síndromes de desarrollo y conducta que ocurren con una frecuencia 1/15.000-20.000 recién nacidos. Resultan de la pérdida física o funcional de genes regulados por la impronta dentro de la región 15q11-q13. SPW está asociado con la perdida de expresión de alelos paternos, mientras que el SA está asociado con la perdida de expresión de alelo materno. Aproximadamente el 70% de los pacientes SPW presentan deleción en el cromosoma paterno, el 20-30% disomía uniparental materna y el 1% defecto de impronta. En los pacientes SA el 70% presentan deleción en el cromosoma materno, el 6% disomía uniparental paterna, el 2-7% defecto de impronta, el 4-10% mutación del gen UBE3A y en el 10-12% la etiología es desconocida.
El diagnóstico citogenético molecular de estos síndromes se realiza normalmente usando la combinación de varias técnicas debido a que la base genética es compleja. Nuestro laboratorio en 1991 inició los estudios de citogenética, en 1993 los estudios de FISH, en 1994 el análisis de microsatélites y en 1996 el análisis de metilación. De nuestra experiencia proponemos un algoritmo de diagnóstico molecular.
Se han analizado entre los años 1991-2000, 151 pacientes y seis líquidos amnióticos con sospecha de SPW y 147 pacientes y dos líquidos amnióticos con sospecha de SA procedentes del territorio español. Las técnicas empleadas han sido el estudio del cariotipo mediante bandas G, la hibridación in situ fluorescente, el análisis de microsatélites y el análisis de metilación con detección quimioluminiscente.
El diagnóstico de SPW se ha confirmado en 40 pacientes, 28 causado por deleción, cinco por disomía uniparental, dos por defecto de impronta y en cinco no se ha determinado la etiología. El SA se ha confirmado en 47 pacientes, 39 por deleción, cuatro por disomía uniparental y en cuatro no se ha determinado la etiología. Quince pacientes con sospecha de SA y estudio molecular normal han presentado una clínica típica SA, por lo que han sido considerados candidatos a presentar una mutación en el gen UBE3A o ser pacientes de etiología desconocida.
Las características clínicas de los pacientes han sido recogidas por médicos especialistas, correlacionándola con la etiología. Los pacientes SPW con deleción no han presentado diferencias significativas respecto a los otros grupos en hipotonía neonatal, obesidad, hiperfagia, retraso del desarrollo, hipogonadismo, manos y pies pequeños, anomalías dentales, saliva viscosa, alteraciones de comportamiento y problemas de sueño. Solo se han observado diferencias en problemas de alimentación (93% vs 50%, p=0.070) entre deleción y disomía uniparental, y en facies característica (100% vs. 50%, p= 0.069) entre pacientes con deleción y defecto de impronta.
Los pacientes SA con deleción no han presentado diferencias significativas respecto a las otras etiologías en retraso en el desarrollo y del lenguaje, ataxia, risa frecuente, aleteo de manos, hipermotricidad, poca atención, microcefalia, convulsiones, EEG anormal, occipital plano, boca ancha, babeo e hipopigmentación. Las frecuencias observadas han sido semejantes a las de estudios previos. En cambio, se han observado diferencias entre deleción y disomía uniparental en problemas de alimentación (100% vs. 0%, p=0.008), protusion de la lengua (73% vs. 0%, p=0.011), prognatia (57% vs. 0%, p=0.051) y comunicación por gestos (23% vs. 75%, p=0.060). Estos resultados señalan que el dismorfismo facial y la comunicación por gestos son menos severos en los pacientes con disomía. Sin embargo, no podemos concluir que el fenotipo de estos pacientes sea menos severo que el de los pacientes con deleción.
Este trabajo ha permitido un mayor conocimiento molecular y clínico de estos dos síndromes que ha llevado a que seamos centro de referencia y asesores de familias afectas.
Prader-Willi (PWS) and Angelman (AS) syndromes are distinct developmental and neurobehavioral syndromes that occur at a frequency of 1/15.000-20.000 live births. Both are a results of a loss of function of imprinted genes mapped to the chromosome region 15q11-q13. PWS is associated with a loss of expression of paternally derived alleles, whereas AS is associated with a loss of expression of maternal allele. The etiology is heterogeneous: approximately 70% of PWS patients present deletion in the paternal chromosome, 20-30% maternal uniparental disomy and 1% imprinting defect. In AS, 70% present deletion in the maternal chromosome, 6% paternal uniparental disomy, 2-7% imprinting defect, 4-10% mutation of the gene UBE3A and 10-12% have an unknown etiology.
Molecular and cytogenetic diagnosis is currently performed using a combination of several techniques due to the complexity of the genetic basis of these syndromes. Our laboratory began in 1991 cytogenetics studies, in 1993 studies of FISH, in 1994 microsatellites analysis and in 1996 methylation analysis. Due to our experience an algorithm for molecular diagnostic was proposed.
Between the years 1991-2000, we analyzed 151 patients and six amniocentesis with suspicion of PWS and 147 patients and two amniocentesis with suspicion of AS from Spain. The techniques used were G-banding karyotype, the fluorescent in situ hybridization (FISH), microsatellite analysis and methylation analysis with chemiluminescent detection.
The diagnosis of PWS was confirmed in 40 patients, 28 with deletion, five with uniparental disomy, two with imprinting defect and in five the etiology was not been determined. AS diagnosis was confirmed in 47 patients, 39 with deletion, four with uniparental disomy and in four the etiology was not determined. Fifteen patients with suspicion of AS and normal molecular study had classical AS phenotype, and they were considered candidates to present a mutation in the gene UBE3A or unknown etiology.
The clinical characteristics of the patients were registered by the specialist physician. The received information was correlated with the etiology. The PWS patients with deletion did not present significant differences from the other groups regarding neonatal hypotonia, obesity, hyperphagia, developmental delay, hypogonadism, small hands and feet, dental anomalies, viscous salivates, behavioural disorders and sleep disturbance. The only differences observed were in feeding problems (93% vs 50%, p=0.070) between deletion and uniparental disomy, and in facies characteristic (100% vs. 50%, p = 0.069) among patients with deletion and imprinting defect.
AS patients with deletion did not present significant differences from the other etiologies in developmental delay, absent speech, ataxia, frequent laughing, flapping of hands, hypermotricity, little attention, microcephaly, seizures, abnormal EEG, occipital groove, macrostomia, drooling and hypopigmentation. The observed frequencies were similar to those of previous studies. On the other hand, differences were observed between deletion and uniparental disomy in feeding problems (100% vs. 0%, p=0.008), protruding tongue (73% vs. 0%, p=0.011), prognatia (57% vs. 0%, p=0.051) and communication through gestures (23% vs. 75%, p=0.060). These results point out that the facial dismorfism and communication by gestures are less severe in the patients with disomy. However, we cannot conclude that the phenotype of these patients is less severe than that of the patients with deletion.
This work gave us a greater molecular and clinical knowledge of these two syndromes allowing us to become a reference and advisory centre for affected families.

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Hinton, E. C. « The neural basis of the motivation to eat in Prader-Willi syndrome ». Thesis, University of Cambridge, 2005. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.604088.

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The aim of this thesis is to investigate the neural correlates of the conscious experience accompanying fasting and food intake in those with PWS, in order to provide further understanding of the abnormal satiety response that results in the overeating in this syndrome. An initial study was conducted in those without the syndrome, using positron emission tomography. This study examined the neural response to fasting and food intake, in conjunction with incentive motivational factors, in order to provide the specific hypotheses upon which to base the investigation in PWS. The main study of this thesis examined the neural response, and associated conscious experience, in individuals with PWS to an overnight fast and two disguised energy controlled meals, one of 400kcal and another of 1200kcal, in order to test the hypothesis that the neural process of satiety are abnormal in PWS. This study also investigated the neural basis of incentive motivation in PWS, following an examination of food preferences in those with the syndrome. These studies provided evidence for a dysfunctional satiety response in the brain in those with PWS: even after the high energy meal, brain regions that normally elicit a feeling of satiety and signal the end of further food seeking, as found in the comparison group, were not activated. This was accompanied by an altered conscious experience following food - only some of the participants were able to detect a substantial shift to fullness following the high energy meal. Furthermore, extrinsic incentive factors appeared not to contribute to the motivation to eat in those with the syndrome. These findings have implications for the management of the eating behaviour in PWS, particularly with regard to the ethics of controlling the food environment of adults with the syndrome.

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Mesquita, Maria Luiza Guedes de. « Perfil comportamental e cognitivo de crianças com a síndrome de Prader Willi ». Universidade Presbiteriana Mackenzie, 2008. http://tede.mackenzie.br/jspui/handle/tede/1683.

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Prader Willi syndrome is a genetic disorder caused by the absence of the paternally derived PWS region of chromosome 15. Some patognomonics symptoms of this disorder are hyperphagia and obesity, which in most cases happens before the age of six and they severely harm the quality of life of such patients. The present study has focused on the behavioral area and aimed at identifying the daily frequency of eating habits and the caloric intake of children with PWS; identifying the variables of family interaction which control the eating behavior and tracing a cognitive and behavioral profile of the PWS patients. The sample was made by eleven children with a PWS genetic diagnosis, between the ages of 7 and 16 and their parents. The data collecting instruments were: a questionnaire for the eating habits record of the children, an interview to identify controlled environment variances of the eating behavior and the Brazilian version of the Child Behavior Checklist for ages 6-18 (CBCL/6-18) by Achenbach and the WISC-III test (Wechsler Intelligence Scale for Children- 3 rd edition). The data went through an evaluation which included topographic record and functional analysis of eating behavior and others types of children´s non- adaptive behaviors and analyses and comparison of frequency distribution of these behaviors in relation to cognitive and behavioral profiles of the patients. The group was characterized as obese according to the BMI calculation. The main results showed that 82% from the total classified in the WISC-III test as mentally retarded, 100% of the sample was at clinic level and in at lest one of the syndrome scales, competences or problems of the instrument CBCL/6-18. One of the high frequency behavioral classes was the negotiations to obtain food from their parents. There is a behavioral chart configured as pathological in terms of response for tantrums, manipulation, aggressiveness, breaking of rules and oppositionist behavior. Psychiatric comorbidity has also been identified, associated to high consumption of psychotropic drugs.
A Síndrome de Prader Willi (SPW) é uma doença genética de origem paterna causada pela perda de expressão de genes no cromossomo 15. Alguns sintomas patognomônicos da doença são a hiperfagia e a obesidade que, na maioria dos casos, ocorre antes dos seis anos e compromete severamente a qualidade vida desses pacientes. O presente estudo se concentrou na área comportamental e teve como objetivos: - identificar a freqüência diária de comportamentos alimentares e ingestão calórica de crianças com SPW; - identificar as variáveis de interação familiar que controlam os comportamentos alimentares e; - traçar um perfil comportamental e cognitivo dos sujeitos com SPW. A amostra foi composta por onze crianças com diagnóstico genético de SPW, na faixa etária de 7 a 16 anos e seus pais. Os instrumentos de coleta de dados foram: um questionário para o registro de hábitos alimentares da criança, uma entrevista para identificar variáveis ambientais controladoras dos comportamentos alimentares, a versão brasileira do Child Behavior Checklist for ages 6-18 (CBCL/6-18) de Achenbach e o Teste WISC-III (Escala de Inteligência Wechsler para crianças 3ª edição). Os dados passaram por uma avaliação que incluiu um registro topográfico e análise funcional de comportamentos alimentares e de outros tipos de comportamentos desadaptativos das crianças e análise e comparação das distribuições de freqüências desses comportamentos em relação aos perfis cognitivo e comportamental dos sujeitos. O grupo foi caracterizado como obeso de acordo com o cálculo do IMC. Os principais resultados apontaram que 82% do total classificaram-se no teste WISC-III como débil mental, 100% da amostra pontuaram na faixa clínica em, pelo menos uma das escalas das síndromes, competências ou problemas do instrumento CBCL/6-18. Uma das classes comportamentais de alta freqüência foram as negociações para obter alimentos dos pais. Há um quadro comportamental configurado como patológico em termos de respostas de birra, manipulação, agressividade, quebrar regras e oposicionismo. A comorbidade psiquiátrica também foi identificada, inclusive associada a um consumo elevado de psicotrópicos.

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Walley, Robert M. « An investigation of executive function abilities in adults with Prader-Willi syndrome ». Thesis, University of Edinburgh, 2006. http://hdl.handle.net/1842/27608.

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Prader-Willi syndrome (PWS) is a genetic disorder caused by the absence of expression of maternally imprinted genes on chromosome 15. There are two main sub-types, deletion and uniparental disomy. In addition to mild/borderline intellectual disability and the almost universal feature of hyperphagia, PWS is associated with high rates of behaviour problems. The present study seeks to explore whether these behaviour problems are associated with relative deficits in executive function (EF), which comprises the non-automatic processes utilized by an individual when faced with a novel situation. Nineteen adult participants with a clinical diagnosis of PWS (12 with deletion sub-type, 6 with UPD, and 1 with an uncertain genetic diagnosis) were recruited from a PWS clinic, and compared with 15 participants of similar age and verbal ability on a series of EF tasks and Digit Span Forwards. An informant completed two ratings of behaviour; the Aberrant Behaviour Checklist (ABC) and the Dysexecutive questionnaire (DEX). The PWS group had significantly higher scores on the ABC not the DEX. There were no significant differences between the whole PWS group and the comparison group on any of the EF tasks, but there was a non-significant trend for the deletion group to show more efficient performance on a planning task. The deletion group was significantly poorer at Digit Span Forwards. The lack of relative deficits in EF task performance does not support the hypotheses that EF differences could account for the high levels of behaviour problems found in PWS. Applying the Baddeley and Hitch model of working memory it is suggested the PWS deletion group may have a relative impairment in the capacity of the phonological store. As differences in EF ability were not found, it is suggested that the orbitofrontal cortex, which is involved in the modulation of emotion but not EF, may be implicated in the behaviour problems reported in PWS.

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DEROO, DEBRUYNE VERONIQUE. « Le syndrome de willi-prader : etude clinique et cytogenetique en haute resolution de huit observations ». Lille 2, 1990. http://www.theses.fr/1990LIL2M321.

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Silva, Larissa Aguiar. « Problemas de comportamento e consumo alimentar de pessoas com síndrome de prader-willi ». Universidade Presbiteriana Mackenzie, 2015. http://tede.mackenzie.br/jspui/handle/tede/1650.

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Prader-willi syndrome (pws) presents a complex clinical condition characterized by several alterations and endocrine, hypothalamic, metabolic, cognitive and behavioral disorders. One of the main symptoms of this disease is hyperphagia, being responsible for the increased risk for the development of obesity, cardiovascular diseases, endocrine and respiratory dysfunctions. Many behavior problems of people with pws are associated to hypothalamic dysfunctions related to inhibitory control that lead to development of behavior patterns of aggressiveness and manipulation for obtaining food. Caregivers of people with pws must establish environments with rigorous controls of food stimulation to avoid overstated caloric intakes. The objective of this study was to verify behavior problems and information of dietary intake of a group of people with prader-willi syndrome. The specific objectives were: a) verify the dietary intake of macronutrients and micronutrients, as well as the nutritional status of the group according to age groups. B) identify associations among dietary intake and nutritional monitoring of the group according to age groups. C) verify and compare behavior problems and associations with dietary intake among age groups. The study adopted a cross-sectional design and was composed by a sample of 22 people of both genders with pws (children, adolescents and adults aged at least 1 year old and maximum of 22) and their caregivers (project approved by ethics committee in research with human beings as the protocol - process cep/upm caae n. 34649314.2.0000.0084). The instruments of data collection were: a) instruments of nutritional, behavioral and physical assessment belonging to the protocol of evaluation of people with pws of department of kinesiology of college ofhealth and human development of california state university, fullerton; b) nutrition screen and intake form; c) 24-hour recall (24hr); d) verification of body mass index (bmi); e) brief problem monitor - parent form for ages 6-18 (bpm-p). The main results indicate the prevalence of several behavior problems assessed by instruments that evaluate this variable, with predominance of this problems in the group above 11 years old. Similar data were obtained regarding the dietary intake. More than 80% of total sample performed nutritional monitoring, however were verified indicative correlation that the greater the age, greater the dietary intake, especially of macronutrients. Also the higher age group makes a greater number of meals out home. In adolescence and adult age Externalizing behavior problems as challenge, aggressiveness and perserverative answers characterized more consistently the behavioral phenotype of pws. These are problems that when associated with the main symptom of disease, hyperphagia, complicate the management of people with pws, especially in relation to food access. It s likely that increased intake of macronutrients, especially energy and lipids, are associated with these behavior problems in people with pws over 11 years old. It's concluded from data that in the sample there are indicators of behavior problems and dietary intake that require multiprofessional interventions on people with pws and their family members focusing on dietary/nutritional, psychological, endocrinological and family social aspects.
A síndrome de prader-willi (spw) apresenta um quadro clínico complexo caracterizado por diversas alterações e disfunções endócrinas, hipotalâmicas, metabólicas, cognitivas e comportamentais. Um dos sintomas cardinais da doença é a hiperfagia, sendo responsável pelo aumento do risco para o desenvolvimento de obesidade, doenças cardiovasculares, endocrinológicas e disfunções respiratórias. Muitos dos problemas de comportamento de pessoas com spw se associam a disfunções hipotalâmicas relacionadas ao controle inibitório que oportunizam o desenvolvimento de padrões comportamentais de agressividade e comportamentos de manipulação para a obtenção de alimentos. Cuidadores de pessoas com spw precisam estabelecer ambientes com controles rigorosos dos estímulos alimentares para evitar ingestões calóricas exageradas destes. O objetivo geral do estudo foi verificar problemas de comportamento e informações sobre consumo alimentar de um grupo de pessoas com spw. Os objetivos específicos foram: a) verificar o consumo alimentar de macronutrientes e micronutrientes, assim como do estado nutricional do grupo em função de faixas etárias. B) identificar associações entre o consumo alimentar e o uso de serviços de acompanhamento nutricional do grupo em função de faixas etárias. C) verificar e comparar entre faixas etárias problemas de comportamento e associações com o consumo alimentar. O estudo adotou um delineamento do tipo transversal e foi composto por uma amostra de 22 participantes ambos os sexos com spw (entre crianças, adolescentes e adultos, com idade mínima de 1 ano e máxima de 22) e seus respectivos cuidadores (projeto aprovado pelo comitê de ética em pesquisa com seres humanos conforme o protocolo - processo cep/upm caae n° 34649314.2.0000.0084). Os instrumentos de coleta de dados foram: a) instrumentos do protocolo de avaliação nutricional, comportamental e física pertencentes ao protocolo de avaliação de pessoas com spw do departamento de cinesiologia da escola de saúde e desenvolvimento humano da universidade estadual da califórnia, fullerton; b) formulário de ingestão e rastreio nutricional (firn)/ nutrition screen and intake form; c) recordatório de 24 horas (r24h); d) verificação de índice de massa corporal (imc); e) monitor abreviado de problemas para pais de crianças e adolescentes entre 6 e 18 anos/brief problem monitor parent Form for ages 6-18 (bpm-p). Os principais resultados apontam para a prevalência de diversos problemas de comportamento verificados nos instrumentos que avaliam essa variável com predomínio destes no grupo de participantes acima de 11 anos. Dados semelhantes foram obtidos em relação ao consumo alimentar. Mais de 80% do total da amostra realizava acompanhamento nutricional, entretanto verificaram-se correlações indicativas de que quanto maior a idade, mais elevados foram os indicadores de consumo alimentar, especialmente os macronutrientes. Também o grupo de maior idade realiza um número maior de refeições fora de casa do tipo fast food . Na adolescência e idade adulta problemas de comportamento de tipo externalizantes como desafio, agressividade e respostas perserverativas caracterizam de maneira mais consistente o fenótipo comportamental da spw. Trata-se de problemas que, quando associados ao sintoma cardinal da doença, a hiperfagia, dificultam o manejo de pessoas com spw, especialmente em relação ao acesso a alimentos. É provável que o aumento da ingesta de macronutrientes, especialmente energia e lipídeos, esteja associado a esses problemas de comportamento dos participantes acima de 11 anos. Conclui-se a partir dos dados que no grupo há indicadores de problemas de comportamento e consumo alimentar que demandam intervenções multiprofissionais nos participantes com spw e seus familiares com foco em aspectos dietéticos/nutricionais, psicológicos, endocrinológicos e sócio familiares.

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Soni, Sarita. « An investigation into psychiatric illness in people with Prader-Willi syndrome : evidence for a genetic basis for psychosis ». Thesis, University of Cambridge, 2006. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.614298.

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LELLIS, M. G. O. « O Aluno Com Síndrome de Prader-willi na Escola Comum : Inclusão, Escolarização e Processos de Subjetivação ». Universidade Federal do Espírito Santo, 2015. http://repositorio.ufes.br/handle/10/2454.

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Este estudo intitulado ―O aluno com Síndrome de Prader-Willi na escola Comum: inclusão, escolarização e processos de subjetivação‖ apresenta levantamentos de dados coletados em uma pesquisa no curso de Mestrado em Educação do Programa de Pós-Graduação PPGE Universidade Federal do Espírito Santo -UFES. Tem por objetivo entender como se dá o processo de inclusão de um aluno subjetivado como tendo a Síndrome de Prader-Willi, no contexto do ensino fundamental, de uma escola pública municipal de Vitória-E.S. Especificamente, pretendeu-se: (i) investigar características comportamentais da Síndrome de Prader-Willi; (ii) conhecer o sujeito com Síndrome de Prader-Willi a partir da contextualização deste sujeito na sala comum; (iii) identificar se há articulação entre os panoramas legislativos da educação inclusiva e as práticas educativas perante ao contexto escolar; (iv) entender os processos de subjetivação do sujeito subjetivado como tendo síndrome; (v) conhecer as práticas educativas desenvolvidas como tal sujeito, no âmbito da escola comum e do atendimento educacional especializado (AEE), a partir das contribuições sócio-histórica. Na construção deste estudo, o referencial metodológico adotado, foi a abordagem qualitativa de pesquisa, do tipo etnográfico, a partir de um estudo de caso, que sinaliza uma tentativa de compreensão detalhada dos significados, comportamentos, ações e situações vivenciadas por Samuel, sujeito da pesquisa, no ínterim do seu cotidiano escolar. Por fim, concluiu-se que o sujeito foi além de um diagnóstico patologizante e que foi capaz de construir a partir dos seus diversos diálogos, processos de ensino e aprendizagem com outro, para além da subjetivação da Síndrome de Prader-Willi.

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Weigel, Luise. « Do adults with Prader-Willi Syndrome have psychological characteristics associated with an eating disorder ? » Thesis, University of East Anglia, 1999. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.300066.

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Haselip, L. « Assessing the impact of hyperphagia on the behaviour of children with Prader-Willi Syndrome ». Thesis, University of Nottingham, 2010. http://eprints.nottingham.ac.uk/11519/.

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Background Prader-Willi Syndrome (PWS) is a complex genetic syndrome associated with hyperphagia and behavioural problems. Recent research suggested a link between hyperphagia and behavioural and emotional problems in PWS such as anger and anxiety. The current study aimed to explore this relationship further. Method Through parental report postal questionnaires, data was collected on the age, gender, weight, hyperphagia and behavioural and emotional problems of 105 children with PWS aged 4-18 years (M: 9.63 years). Results Following preliminary analysis, a series of multiple regressions were performed. Hyperphagic drive significantly predicted antisocial/disruptive behaviour, anxiety, social relating problems, communication disturbances and self-absorbed behaviours. Whilst hyperphagic behaviour did not significantly predict any behavioural/emotional problems. Conclusions This study reinforces research which has suggested an association between hyperphagia and non-food related behaviour in PWS. This has implications for the understanding of PWS and the development of psychological interventions for behavioural and emotional problems.

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Famelart, Nawelle. « Compétences émotionnelles des enfants avec syndrome de Prader-Willi : approche développementale, intégrative et thérapeutique ». Thesis, Toulouse 2, 2018. http://www.theses.fr/2018TOU20091.

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Actuellement, nous disposons de connaissances lacunaires sur le fonctionnement émotionnel des personnes présentant un syndrome de Prader-Willi (SPW) et encore plus sur le développement pendant l’enfance. La littérature décrit une symptomatologie telle que des crises de colère, une labilité émotionnelle, des comportements impulsifs, anxieux et des difficultés d’adaptation sociale, suggérant des troubles des compétences émotionnelles (i.e. capacité à utiliser ses émotions au quotidien) qui nécessiteraient d’être pris en charge. L’objectif de ce projet de recherche est double : augmenter les connaissances sur le développement émotionnel des enfants avec SPW et tester auprès d’eux l’effet d’un programme d’intervention thérapeutique centré sur les compétences émotionnelles. La première étude vise à évaluer le niveau des compétences émotionnelles (expression, reconnaissance, compréhension et régulation des émotions) auprès de 25 enfants avec SPW âgés de 5 à 10 ans. Leur niveau est comparé à celui d’enfants au développement typique apparié d’une part sur l’âge chronologique, et d’autre part sur l’âge développemental. Les résultats montrent que les enfants avec SPW présentent un retard de développement important pour l’ensemble des compétences émotionnelles qui n’est pas seulement imputable au déficit cognitif. La seconde étude présente un nouveau programme d’intervention thérapeutique (programme EMOT) spécifiquement élaboré pour aider les enfants avec SPW à améliorer leurs compétences émotionnelles. Fondé sur une approche intégrative, le programme est proposé par un des thérapeutes habituels des enfants durant 6 semaines. L’effet du programme est mesuré en analysant l’évolution des compétences émotionnelles des enfants entre une session d’évaluation pré-intervention et deux sessions post-interventions (immédiat et différé). Les résultats montrent que le programme EMOT a permis aux enfants qui en ont bénéficié de s’améliorer sur la majorité des compétences émotionnelles, et réduire ainsi leur retard de développement. On observe que l’effet bénéfique s’amenuise à mesure que la tâche se complexifie et qu’elle nécessite des aptitudes cognitives, perceptives et langagières plus poussées. Ces travaux apportent un éclairage nouveau sur le fonctionnement et le développement émotionnels dans le cadre du SPW et montrent la pertinence d’une prise en charge précoce
Currently, we have very limited knowledge about the emotional functioning of people with Prader-Willi Syndrome (PWS) and the development during childhood. The literature describes symptoms such as temper tantrums, emotional lability, impulsive and anxious behaviours and social adjustment difficulties, suggesting disturbances of emotional skills (i.e. the ability to use emotions daily) that would need to be taken care of. The purpose of this research project is twofold : to increase knowledge about children's emotional development with PWS and to test with them the effect of a therapeutic intervention program centred on emotional skills. The first study aims at assessing the level of emotional skills (i.e. expression, recognition, comprehension and regulation of emotions) for 25 children with PWS from 5 to 10 years old. Their level is compared to that of children with a typical development matched, on the one hand, on the chronological age, and, on the other hand, on the developmental age. The results show that children with PWS present a significant developmental delay in all emotional skills which is not only due to intellectual retardation. The second study presents a new therapeutic intervention program (EMOT program) specifically designed to help children with PWS improve their emotional skills. Based on an integrative approach, the program is offered by one of the usual children's therapists for 6 weeks. The effect of the program is measured by analysing the evolution of children's emotional skills between a pre-intervention assessment session and two post-intervention sessions (immediate and delayed). The results show that the EMOT program allowed children who benefited from it to improve the majority of their emotional skills, and thus reduce their developmental delay. We find that the beneficial effect decreases as the task becomes more complex and requires more cognitive, perceptual and linguistic skills. This work sheds new light on the emotional functioning and development of the PWS and shows the relevance of an early intervention

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Robinett, Sheldon J. (Sheldon Jay). « Genomic imprinting : support for the concept from a study of Prader-Willi Syndrome patients ». Thesis, University of North Texas, 1994. https://digital.library.unt.edu/ark:/67531/metadc332745/.

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In this study, nineteen cases of suspected or clinically diagnosed Prader-Willi Syndrome (PWS) were tested for molecular deletions by in situ hybridization with two DNA probes, IR4-3R and GABRB3. Both probes are specific for sequences within the chromosome region 15q11-13, with IR4-3R located within the putative PWS region and GABRB3 in the distal area associated with Angelman Syndrome.

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Chevalere, Johann. « Fonctionnement exécutif et traitement émotionnel dans le syndrome Prader-Willi : études en neuropsychologie et psychophysiologie cognitives ». Thesis, Bordeaux, 2014. http://www.theses.fr/2014BORD0384/document.

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Le syndrome de Prader-Willi (SPW) est une maladieneurodéveloppementale rare d’origine génétique dont les manifestationspsychologiques incluent une déficience intellectuelle légère à modérée, descomportements ritualisés, une obsession pour la nourriture, des accès de colèreet une labilité émotionnelle. Le premier objectif de ces études est d’appuyer lalittérature suggérant un déficit des fonctions exécutives dans le SPW. Ledeuxième objectif est d’évaluer s’il existe un déficit du traitement émotionneldans le SPW. Le troisième objectif est de déterminer si les effets modulateurs dela valeur émotionnelle sur l’efficience du contrôle exécutif sont exprimésdifférentiellement dans le SPW comparativement à la population saine. Deuxpré-expériences et cinq expériences ont été menées en utilisant des mesurescomportementales (pré-expériences 1, 2, expériences 1 à 5) et une associationentre mesures comportementales et mesures électrodermales (expériences 1, 2,3, 5). Les mesures comportementales montrent un ralentissement du traitementde l’information et une plus faible précision des réponses dans le SPW. Lesmesures physiologiques montrent des réponses de plus faible intensité et defaçon surprenante, plus précoces dans le SPW. Dans la majorité des cas, letraitement émotionnel de l’information est identique dans les deux groupes auniveau des mesures objectives. En revanche, l’évaluation subjective d’images àconnotation émotionnelle montre un biais de positivité dans le SPW. Enfin,l’efficience de la capacité de mise à jour de l’information est singulièrementaltérée dans le SPW lorsque l’environnement comporte des références à lanourriture
Prader-Willi syndrome (PWS) is a rare neurodevelopmental geneticdisease whose psychological manifestations include mild to moderateintellectual disability, ritualistic behavior, obsession with food, temper tantrums,emotional lability and psychiatric disorders. The first aim of these studies is tosupport the growing evidence that PWS people show an impairment ofexecutive functions. The second aim is to investigate whether PWS people havean impairment of emotional processing. A third objective is to determine if themodulating effects of emotional significance on the efficiency of executivecontrol are differentially expressed in PWS in comparison to the healthypopulation. Two pre-experiments and five experiments were conducted usingbehavioral measures (pre-experiments 1, 2 and experiments 1 to 5) and bothbehavioral and electrodermal measures (experiments 1, 2, 3, 5). Behavioral datashowed a global slowness of processing and a lower response accuracy.Physiological data showed weaker but surprisingly earlier responses in the PWSgroup. In the majority of cases, emotional processing was identical in the twogroups at the level of objective measures. In contrast, the subjective rating ofpictures of emotional significance showed an overall positive rating bias in thePWS group. Finally, the updating capacity of working memory is singularlyhampered in PWS when the environment contains references to food

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Rieusset, Anne. « Caractérisation de la plasticité épigénétique du gène Necdin/NECDIN impliqué dans le syndrome de Prader-Willi et de ses conséquences fonctionnelles sur le phenotype ». Thesis, Aix-Marseille, 2013. http://www.theses.fr/2013AIXM4039.

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Le syndrome de Prader-Willi est une maladie génétique rare. Les gènes candidats au SPW, dont le gène Necdin, sont régulés par l'empreinte génomique parentale : seul l'allèle paternel de ces gènes est exprimé, l'allèle maternel étant silencieux. Notre équipe a généré un modèle murin pour lequel l'allèle paternel de Necdin a été désactivé (+m/-p) et qui présente des similarités phénotypiques avec les patients PW. Ce phénotype est plus drastique chez les animaux -/-. Nous avons alors émis l'hypothèse que l'allèle maternel puisse avoir un rôle fonctionnel dans la survie des souris (+m/-p). L'expression de l'allèle maternel de Necdin est présente dans le système nerveux des souris (+m/-p). Cette expression, bien que faible au niveau transcriptionnel, est suffisante pour produire la protéine Necdin, ce qui a des conséquences cellulaires et physiologiques qui in fine permettent une amélioration du phénotype. Cette perte de silence de l'allèle maternel est également détectée dans l'hypothalamus de patients PW. Ces résultats révèlent une plasticité épigénétique inattendue qui permet d'envisager des perspectives thérapeutiques
The Prader-Willi Syndrome (PWS) is a rare genetic disorder. Several genes, including NECDIN gene, are involved in the PWS. These genes are regulated by the genomic imprinting mechanism: only the paternal allele of these genes is expressed, their maternal allele being silenced. Our team has generated a mouse model in which the paternal allele of the Necdin gene has been deactivated (+m/-p). This model presents phenotypical similarities with PWS patients. We observed that mortality affects more -/- pups than +m/-p mice. Therefore we venture the hypothesis of a functional role of the maternal allele in mutant mice survival. We showed an expression of this allele in the nervous system of +m/-p mice. Though transcriptionnally low, that is sufficient to produce the Necdin protein and provoke cellular as well as physiological consequences that actively improve the phenotype. Importantly, a specific expression of the maternal NECDIN allele is also detected in hypothalamic brain sections of PWS patients. These results reveal an unexpected epigenetic flexibility that allow to contemplate a therapeutic pharmacological prospect

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Höybye, Charlotte. « Endocrine and metabolic aspects of adult Prader Willi syndrome with special emphasis on the effect of growth hormone treatment / ». Stockholm, 2003. http://diss.kib.ki.se/2003/91-7349-645-6/.

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Eddiry, Sanaa. « Rôle du SNORD116 et de l'IGFBP7 dans la réponse à l'IGF1 dans le syndrome de Prader-Willi ». Toulouse 3, 2013. http://www.theses.fr/2013TOU30215.

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Le syndrome de Prader-Willi (SPW) est une maladie génétique complexe du développement qui résulte de l'absence d'expression de gènes sur le chromosome15q11-q13 paternel. Les patients SPW présentent des taux de GH diminués et des taux de ghréline élevés. Ils sont traités précocement par GH. La région du chromosome 15q11-q13 responsable du SPW est soumise au phénomène d'empreinte génétique, des études récentes la limitent à une région minimale incluant un cluster de small nucleolar RNA (snoARN): le SNORD116. Nos résultats montrent une sensibilité accrue à l'IGF1 et à l'insuline dans les fibroblastes de patients SPW. Ces cellules montrent également un taux augmenté de la prolifération et une diminution de la sénescence. Des études par microarrays, RT-qPCR, ainsi que du sécrétome montrent que l'expression de l'IGFBP7, un important facteur anti-prolifératif, a été considérablement abaissée chez ces patients. IGFBP7 est connu pour interagir avec les récepteurs de l'IGF1 et de l'insuline en modulant négativement leur action. Ces résultats étaient identiques chez la patiente SD. Notre hypothèse a été que l'augmentation de la prolifération et de la sensibilité aux facteurs de croissance est due à l'absence de l'expression du SNORD116. Nous avons démontré que le défaut du SNORD116 entraîne des taux de prolifération élevés et une diminution de la sénescence chez les patients SPW, avec une diminution de la sécrétion de l'IGFBP7. Les taux d'IGFBP7 in vitro décroissent sous l'effet de l'IGF1. De plus nous avons constaté que l'augmentation des taux d'IGF1 était corrélée significativement avec la diminution des taux de l'IGFBP7 chez des enfants SPW traités par GH pendant un an. Ces études soulignent fortement l'importance du SNORD116 pour contrôler la production de l'IGFBP7 en présence d'IGF1 et de facteurs de croissance et donc la sensibilité au traitement à l'hormone de croissance
Prader-willi syndrome (PWS) is a complex genetic disease of neurodevelopment that arises from lack of expression of paternally imprinted genes on chromosome 15q11-q13. GH levels are low in PWS, and GH treatment is recommended. The current management of PWS patients includes early treatment by growth hormone (GH). We demonstrated that GH treatment of PWS patients is associated with elevated IGF1 levels. Human chromosome 15q11-q13 contains an imprinting control region, which when deleted is sufficient to cause PWS. In addition, human genetic studies have defined a minimal PWS gene locus including a cluster of paternally expressed small nucleolar RNA (snoRNA), within the SNORD116. This makes PWS the first human disease found to be caused by loss of non-coding RNA. Our results showed increased sensitivity to IGF1 and Insulin in PWS cells. These cells demonstrate also increased proliferation rate and decreased senescence. From multi-array and RT-qPCR analysis, expression of IGFBP7, an important antiproliferative factor, was dramatically decreased in those patients. IGFBP7 is known to interact with IGF1 and Insulin receptors to decrease their action. We demonstrated that the lack of expression of SNORD116 in this patient results in increased response to IGF1 and Insulin and highly decreased secretion of IGFBP7. Therefore lack of SNORD116 results in high proliferation rate and decreased senescence in PWS, with decreased IGFBP7 secretion. Finally, we found that the increase of IGF1 level was significantly correlated with the decrease of IGFBP7 level in the serum of PWS children treated one year with GH. These data suggest that the lack of SNORD116 expression results in increased responsiveness to growth factors due to a low level of IGFBP7 in cells of PWS patients. They highlight a new phenotype of PWS, modified IGFBP7 levels, which, given the properties of IGFBP7 as a strong regulator of IGF1 effect, has potential consequences on the management of PWS patients treated by GH

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Giménez, Palop Olga. « Síndrome de Prader-Willi como modelo de obesidad : Ghrelina, péptido YY, adiponectina y parámetros inflamatorios ». Doctoral thesis, Universitat de Barcelona, 2007. http://hdl.handle.net/10803/1095.

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El síndrome de Prader-Willi (SPW) es la causa de obesidad genética más frecuente. Está provocado por una falta de expresión de los genes de la región cromosómica 15q11-13. Adémas de desarrollar una obesidad mórbida, asocian retraso mental, una facies característica, hipogonadismo hipogonadotropo y déficit de hormona de crecimiento.
El control de la ingesta y del peso corporal es un proceso complejo en el que intervienen señales periféricas que informan sobre la adiposidad del organismo y otras que se producen en el tracto gastrointestinal que producen saciedad como el péptido YY (PYY). Por otra parte, la ghrelina, secretada en su mayoría por el estómago, estimula la ingesta. Finalmente, la adiponectina, fabricada en el tejido adiposo, y algunas proteínas relacionadas con la inflamación intervienen también en la regulación del metabolismo.
En esta tesis se estudian ghrelina, PYY, adiponectina y proteínas relacionadas con la inflamación (IL-6, IL-18, PCR, C3 y TNF-alfa) tanto en ayunas como tras la ingesta de una dieta líquida estándar en pacientes adultos con SPW y se compara con sujetos obesos de igual índice de masa corporal y sujetos con normopeso.
La ghrelina en ayunas fue superior en los pacientes con SPW. Tras la ingesta, la concentración de ghrelina disminuyó en los tres grupos pero en los pacientes con SPW, el descenso fue menos marcado, de forma que el área bajo la curva (AUC) de ghrelina fue superior en estos pacientes comparado con los sujetos obesos.
La concentración de PYY en ayunas fue inferior en los pacientes con SPW que en los otros dos grupos y, tras la ingesta, ascendió de forma menos marcada, a diferencia de lo observado en los sujetos obesos y con normopeso, en los que se produjo un pico de PYY a los 60 minutos. La concentración de PYY fue inversamente proporcional a la ghrelina en ayunas y al AUC de ghrelina, pudiendo además considerarse un predictor de esta última. El incremento de PYY tras la ingesta se correlacionó negativamente con el descenso de ghrelina en los pacientes con SPW en los minutos 60 y 120.
La concentración de adiponectina en ayunas fue inferior en los pacientes con SPW respecto a los sujetos con normopeso, pero superior a la de los sujetos obesos. No se observó ningún cambio en las concentraciones de adiponectina tras la ingesta ni en el grupo de sujetos obesos ni en el grupo con normopeso. Se observó un descenso del 13% en la adiponectina en el minuto 240 en el grupo con SPW. El AUC de adiponectina fue similar en los tres grupos.
Los sujetos obesos, con o sin SPW, mostraron concentraciones superiores en ayunas de algunos marcadores de inflamación comparado con el grupo de sujetos con normopeso. Además, comparado con los sujetos obesos, los pacientes con SPW mostraron concentraciones superiores de C3, IL-18, IL-6 y PCR, indicando que presentan aún un mayor grado de inflamación. No se observaron cambios tras la ingesta de ninguna de la proteínas de inflamación, de forma que persistieron elevadas aquellas que ya lo estaban en ayunas. La concentración de IL-18 se correlacionó negativamente con la testosterona en los varones con SPW. En conclusión, la hiperghrelinemia observada en los pacientes con SPW podría estar relacionada con una disminución de la concentración de PYY. La obesidad que acompaña al SPW, cursa con concentraciones de adiponectina y proteínas relacionadas con la inflamación superiores a los observados en la obesidad esencial.
Prader-Willi syndrome (PWS) is considered as one of the most common causes of genetic obesity in humans. The characteristic clinical features include neonatal hypotony, mental retardation, behavioural abnormalities and excessive appetite with progressive massive obesity. The aim of the study was to investigate fasting and postprandial ghrelin, peptide YY, adiponectin and inflammation-related proteins levels in PWS patients as compared to obese and lean subjects and whether they could contribute to the pathogenesis of obesity in this syndrome. We studied 7 patients with PWS, 16 obese patients and 42 lean subjects for the fasting study. From this group, we evaluated 7 patients with PWS, 7 age-sex-BMI-matched obese non-PWS and 7 age-sex-matched lean subjects before and after the administration of 750 Kcal of a standard liquid meal. Fasting ghrelin levels were higher in PWS than in the other two groups. Fasting PYY levels were lower in patients with PWS than in lean subjects but similar to those in obese subjects. The postpradial decrease in ghrelin concentrations was lower in PWS as compared to the other two groups. PYY response after the meal was blunted in patients with PWS, but not in the other two groups. Fasting PYY levels correlated negatively with fasting ghrelin levels and with ghrelin AUC and they were the only predictor for ghrelin AUC. The increase in PYY correlated negatively with the decrease in ghrelin in times 60 min and 120 min in PWS. Fasting plasma adiponectin levels were lower in PWS than in lean subjects but higher than in obese patients. After the meal, adiponectin concentrations mildly decreased in PWS at time point 240 min, while in obese and lean subjects no changes were observed. However, the adiponectin AUC was similar in all three groups. Compared to non-PWS, PWS subjects showed higher plasma concentrations of CRP, C3, IL-18 and IL-6 that persisted postprandially elevated for CRP, C3 and IL-18. TNF-alpha did not differ between the three groups. These results were independent from IGF-1 levels, HOMA index, and BMI. In male subjects with PWS, testosterone levels correlated to IL-18.

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Kokkonen, H. (Hannaleena). « Genetic changes of chromosome region 15q11-q13 in Prader-Willi and Angelman syndromes in Finland ». Doctoral thesis, University of Oulu, 2003. http://urn.fi/urn:isbn:9514270274.

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Abstract The Prader-Willi (PWS) and Angelman (AS) syndromes are clinically distinct developmental disorders which are caused by genetic defects in the imprinted domain at chromosome 15q11-q13, resulting in the loss of paternal (PWS) or maternal (AS) gene function. In this study, the genetic changes of 15q11-q13 and their possible inheritance in Finnish PWS (n=76) and AS (n=47) patients are described. The diagnosis could be confirmed by laboratory methods in all PWS and in 43 (91%) AS patients. A deletion of 15q11-q13 accounted for 76% of the PWS and 67% of the AS patients in whom a specific genetic defect had been established. The origin of deletion was always paternal in PWS and maternal in AS. In PWS, deletions of four different sizes were detected, while in AS only type I or II deletions were found. The smallest overlap of deletions/critical region detected was from locus D15S13 to locus D15S10 in PWS and from locus D15S128 to locus D15S12 in AS. A rare recurrence of del(15)(q11q13) due to maternal germ line mosaicism is described. Maternal uniparental disomy of chromosome 15 accounted for 21% of PWS patients and paternal UPD for 2% of AS patients. In PWS, most UPD cases were due to errors in maternal meiosis (87%), most commonly leading to maternal heterodisomy (MI error). In AS, a rare error in the second segregation of paternal meiosis was found. UPD was associated with advanced maternal age, the mean being 34.6 years. Imprinting defects were found in 3% of PWS (two non-IC-deletions) and 11% of AS (IC deletion in one sib pair and three non-IC-deletions) patients. In the case with IC deletion, the mutation was seen in several generations. The non-deletion cases were thought to be due to a de novo prezygotic or postzygotic error. In the non-deletion PWS cases, the maternally imprinted paternal chromosome region was shown to have been inherited from the paternal grandmother, while in AS the paternally imprinted maternal chromosome region had been inherited from either the maternal grandfather or the maternal grandmother. The region of IC involved in AS was defined to be 1.15 kb. Five (11%) AS patients with normal DNA methylation test results had a UBE3A mutation. One of the two novel missense mutations (902A→C) had been inherited from the mosaic mother, while the mutation 975T→C was a new one. De novo deletions 1930delAG and 3093delAAGA have also been described previously, suggesting that these sites may be mutation hotspots in UBE3A. Identification of different genetic aetiologies with different recurrence risks is essential for genetic counselling, and close co-operation between clinicians and the laboratory is required both for diagnosis and for the detection of possible inheritance.

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Glattard, Mélanie. « Aspects psychologiques, cognitifs et comportementaux d’enfants présentant un syndrome de Prader-Willi : étude transversale et étude longitudinale ». Thesis, Toulouse 2, 2012. http://www.theses.fr/2012TOU20042/document.

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Cette étude vise à décrire les caractéristiques psychologiques, cognitives et comportementales d’individus présentant un syndrome de Prader-Willi (SPW) au cours de la petite enfance et de l’enfance. La population est constituée de 36 enfants âgés de 2,5 à 15 ans, suivis régulièrement par le centre de référence du SPW. Trois études prospectives sont présentées. La première décrit la prise en charge et la scolarité de ces 36 enfants, leurs compétences cognitives et leurs comportements adaptatifs ainsi que les comportements connus comme problématiques chez les adolescents et les adultes SPW. L’ensemble de ces données sont étudiées de façon comparative entre les enfants de moins de 5 ans et ceux de plus de 6 ans. Nos résultats apportent un éclairage nouveau sur les caractéristiques de ces jeunes enfants SPW qui sont, en de nombreux points, différentes des descriptions issues des études rétrospectives. La seconde étude transversale décrit les aptitudes des 27 enfants de plus de 6 ans à apparier, dénommer et attribuer des émotions. Leurs performances sont comparées à celles d’enfants typiques appariés sur l’âge de développement et sur l’âge chronologique. Les résultats de cette étude pionnière montrent que les enfants SPW ont des compétences hétérogènes pour identifier les émotions, il existe à la fois un effet de l’émotion et un effet de la tâche. Enfin, la dernière étude présente les résultats d’un suivi longitudinal de 4 ans pour 10 enfants. Les compétences cognitives et les comportements adaptatifs sont ici décrits dans leur évolution, en précisant l’émergence de certains troubles du comportement
Our aim was to describe the psychologic, cognitive and behavioral characteristics of children with Prader-Willi syndrom (PWS). The cohort includes 36 children from 2.5 to 15 years regularly followed in the French reference centre for PWS. Three prospective studies are presented, two transversal comparative studies and one longitudinal. The first study describes, in the entire cohort, the multidisciplinary care and the scolarisation of the children, their cognitive abilities and their adaptative behaviors as well as the known behavioral which are problematic issues in adolescents and adults with PWS. We compared the data between children aged less than 5 years and children aged more than 6 years. Our results pointed out differences with the previous results already published in retrospective studies. The second transversal study describes the capacities of the 27 children aged more than 6 years to match, to label and to infer emotional states. We then compared the results of these PWS patients with results obtained from control children matched for sex and for developmental age on one hand, and for chronological age on the other hand. The results of this innovative study show that children with PWS have heterogeneous abilities for the identification of the emotions, with an effect of the nature of the emotion and of the task. Finally, the last study describes the results of a 4 years longitudinal study of 10 children in terms of phenotypic evolution during the transition from early childhood to childhood. The evolution of their cognitive abilities and of their adaptative behaviors is detailed, showing the emergence of some behavioral troubles

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Reis, Bianca Fujita dos. « Análise cromossômica por microarray em pacientes com deficiência intelectual associada à obesidade ». reponame:Repositório Institucional da UnB, 2015. http://dx.doi.org/10.26512/2015.12.D.19254.

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Dissertação (mestrado)—Universidade de Brasília, Faculdade de Ciências da Saúde, Programa de Pós-Graduação em Ciências da Saúde, 2015.
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A obesidade tem se tornado um problema de saúde pública, alcançando taxas superiores a 25% da população. Resultante de uma interação entre fatores ambientais, tais como alimentação e atividades físicas, fatores sociais e fatores genéticos, a obesidade possui uma expressão fenotípica heterogênea e diversos mecanismos moleculares envolvidos. Baseada na etiologia genética, a obesidade pode ser categorizada de três formas distintas: 1) monogênica, na qual o gene causador do fenótipo é claramente identificado, 2) obesidade comum, refletindo a contribuição aditiva de genes distintos e 3) obesidade sindrômica, quando está relacionada a outras alterações, como malformações congênitas, distúrbios comportamentais e deficiência intelectual. O presente estudo tem como objetivo identificar alterações submicroscópicas em pacientes portadores de deficiência intelectual (DI) associada à obesidade, por meio da análise cromossômica de microarranjos (CMA). Foram analisados 68 pacientes, dos quais 3 (4,4%) foram identificados como portadores da Síndrome de Prader-Willi (PWS) pela técnica de MS-MLPA. Para a análise de microarranjos foram selecionados 20 pacientes, dos quais quatro apresentaram LOH, sendo que um deles no cromossomo 11, na região da síndrome de Bardet-Biedl, permitindo assim o diagnóstico da síndrome. Em um paciente foi detectada uma deleção de cerca de 7,9Mb no cromossomo 2, considerada patogênica. Dois pacientes tinham alterações que consideramos do tipo indeterminadas (VOUS), uma vez que não houve evidências para a correlação entre o quadro clínico e as alterações encontradas; e dezesseis com alterações previamente descritas nos bancos de dados e consideradas benignas. A baixa detecção de CNVs patogênicas e a alta incidência de LOH permitem concluir que os mecanismos envolvidos no desenvolvimento dessas características talvez sejam mais complexos, como mutações de ponto, por exemplo. Dessa forma, ferramentas como o sequenciamento do exoma ou genoma devem ser consideradas como principal técnica para o diagnóstico de pacientes portadores de DI associada à obesidade, sugerindo regiões e genes que possam elucidar a etiologia do quadro.
Obesity has become a public health problem, reaching higher rates in population (25%). It is a result of an interaction between environmental factors such as nutrition and physical activity, and social and genetic factors. It also presents a heterogeneous phenotypic expression and hence, diverse molecular mechanisms involved. Based on genetic etiology, obesity is classified in three types: 1) monogenic, when the gene is clearly identified 2) Common obesity, reflecting further contribution of distinct genes and 3) syndromic obesity, related to other changes, such as congenital malformations, behavioral disorders and intellectual disabilities. The aim of this study is to identify submicroscopic changes in patients with intellectual disability (ID) associated with obesity, using chromosomal microarray analysis (CMA). Among 68 patients analyzed, three (4.4%) had a molecular diagnosis of Prader-Willi Syndrome (PWS) by MS-MLPA technique. Microarray analysis was performed in 20 patients. Four patients has regions of loss of heterozygosity (LOH), one of them in Bardet-Biedl syndrome region on chromosome 11, which allows the syndrome diagnosis. Other patient presents a deletion of about 7.9Mb on chromosome 2 possibly pathogenic. Further, two other patients had imbalances considered as variants of unknown significance (VOUS), since no evidence for the correlation between clinical features and genetic changes are found. Finally, 16 patients present abnormalities previously described in databases and considered benign. The low detection of chromosomal imbalances and the high incidence of LOH reveals complex mechanisms involved in the development of these features and may be more complex, such as point mutations, for example. Therefore, tools such as exome or genome sequencing should be considered as a primary technique for diagnosis of patients with ID associated with obesity, suggesting some regions and genes that may clarify the etiology of the condition.

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Peery, Edwin G. « Using mouse models to study the mechanism of imprinting involved in prader-willi and angelman syndromes ». [Gainesville, Fla.] : University of Florida, 2004. http://purl.fcla.edu/fcla/etd/UFE0008392.

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Thesis (Ph.D.)--University of Florida, 2004.
Typescript. Title from title page of source document. Document formatted into pages; contains 141 pages. Includes Vita. Includes bibliographical references.

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Zambotti, Nathalia. « Linguagem e alimentação em casos de Prader-Willi e Kabuki : trabalho fonoaudiológico em oficina de cozinha ». Pontifícia Universidade Católica de São Paulo, 2011. https://tede2.pucsp.br/handle/handle/11878.

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Recent studies in children´s hearing clinics have shown the systematic cooccurrence of language and feeding problems, dealing with speech-language questions related to the oral zone under the concept of orality (GOLSE; GUINOT, 2004). It is assumed that the mouth is the territory of feeding, language and emotions (PALLADINO; CUNHA; SOUZA, 2007). The therapeutic method proposed, the Kitchen Workshop, has been shown to be relevant for children with language problems, because it resembles important symbolic and inaugural scenes (ZAMBOTTI, 2008). The same therapeutic method also appears to be suitable for the speech-language treatment of children with Prader-Willi and Kabuki syndromes, for several reasons, amongst which stand out the appreciation of the biopsychic uniqueness of the cases, by means of the relationship between speaking and eating, as constitutive beams of the psyche. Objective: Describe and analyze the effects of the speech-language work in the Kitchen Workshop on the therapeutic processes of two patients with, respectively, Prader-Willi and Kabuki syndromes. Method: The research is a clinical case study of two children (5years old and 4 years old) with, respectively, Prader-Willi and Kabuki Syndrome, both with a delay in speech and eating problems. The children participated in the therapeutic process for seven months in a Kitchen Workshop, as well as receiving individual speech-language treatment. The clinical material was recorded systematically in writing throughout each one of the sessions. The application of the PROC Behavioral Observation Protocol (ZORZI; HAGE, 2004) was done for the definition of the communicative linguistic profile of each child, before the start of the research and after seven months, when the protocol was reapplied with the purpose of identifying and choosing listing possible differences between the one time and the other. Results: During the therapeutic process it was possible to observe that the two cases modified their myo-functional oral functioning and language. Assuming the inseparability between the organ and the psychic, the two children, that showed definite organic marks, could benefit from the potential of the Kitchen Workshop, by means of which the symbolic dimension acted on the subjective structure and, by means of it, also on the domination of the organic conditions of the studied subjects. There was the symbolic stroke that was expected so that the children could more effectively enter into the language functioning. Conclusion: The Kitchen Workshops, in the position of a therapeutic speechlanguage method, showed the relevance of the biopsychic articulation in the treatment of patients whose organic marks determined limits and specifics to acquisition and circulation in language, as in the cases of Prader-Willi and Kabuki syndromes
Estudos recentes da clínica fonoaudiológica infantil têm apontado coocorrência sistemática de problemas de linguagem e de alimentação, tratando as questões fonoaudiológicas ligadas a zona oral sob o conceito de oralidade (GOLSE; GUINOT, 2004). Supõe-se que a boca é território de alimentação, linguagem e afetos (PALLADINO; CUNHA; SOUZA, 2007). O dispositivo terapêutico proposto, a Oficina de Cozinha, tem se mostrado pertinente para crianças com problemas de linguagem, pois remonta cenas simbólicas e inaugurais importantes (BOM et al, 2009). O mesmo dispositivo terapêutico parece ser adequado também ao tratamento fonoaudiológico de crianças portadoras das síndromes de Prader-Willi e Kabuki, por várias razões, entre as quais se destaca a valorização da singularidade biopsíquica dos casos, por meio da implicação entre o falar e o comer, como vigas constitutivas do psiquismo. Objetivo: Descrever e analisar os efeitos do trabalho fonoaudiológico em Oficina de Cozinha nos processos terapêuticos de dois pacientes portadores, respectivamente, das síndromes de Prader-Willi e Kabuki. Método: A pesquisa é um estudo de caso clínico de duas crianças (de 5 anos e de 4 anos) portadoras, respectivamente, da Síndrome de Prader-Willi e de Kabuki, ambas com atraso de linguagem e transtornos alimentares. As crianças participaram durante sete meses de processo terapêutico em Oficina de Cozinha, além de receberem atendimento fonoaudiológico individual. O registro do material clínico foi realizado sistematicamente por escrito, ao longo de cada uma das sessões. Foi realizada a aplicação do PROC Protocolo de Observação Comportamental (ZORZI; HAGE, 2004) para definição do perfil comunicativo-lingüístico de cada criança, antes do início da pesquisa e após sete meses, quando o protocolo foi reaplicado com a finalidade de identificar e elencar possíveis diferenças entre um momento e outro. Resultados: Durante o processo terapêutico foi possível observar que os dois casos modificaram seu funcionamento miofuncional oral e de linguagem. Assumindo a indissociabilidade entre o orgânico e o psíquico, as duas crianças, que apresentam marcas orgânicas irrecusáveis, puderam usufruir de potencialidades da Oficina de Cozinha, por meio das quais a dimensão simbólica atuou na estrutura subjetiva e, por meio dela, também na sobredeterminação das condições orgânicas dos sujeitos estudados. Houve o derrame simbólico que se espera para que as crianças entrem mais efetivamente no funcionamento da linguagem. Conclusão: As Oficinas de Cozinha, na condição de dispositivo terapêutico fonoaudiológico, mostrou-se pertinente à articulação biopsíquica no tratamento de pacientes cujas marcas orgânicas determinam limites e especificidades à aquisição e à circulação na linguagem, como são os casos das síndromes de Prader-Willi e Kabuki

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Lellis, Marcella Gomes de Oliveira. « O aluno com Síndrome de Prader-Willi na escola comum : inclusão, escolarização e processos de subjetivação ». reponame:Repositório Institucional da UFES, 2015. http://repositorio.ufes.br/handle/10/1585.

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Este estudo intitulado ―O aluno com Síndrome de Prader-Willi na escola Comum: inclusão, escolarização e processos de subjetivação‖ apresenta levantamentos de dados coletados em uma pesquisa no curso de Mestrado em Educação do Programa de Pós-Graduação – PPGE – Universidade Federal do Espírito Santo -UFES. Tem por objetivo entender como se dá o processo de inclusão de um aluno subjetivado como tendo a Síndrome de Prader-Willi, no contexto do ensino fundamental, de uma escola pública municipal de Vitória-E.S. Especificamente, pretendeu-se: (i) investigar características comportamentais da Síndrome de Prader-Willi; (ii) conhecer o sujeito com Síndrome de Prader-Willi a partir da contextualização deste sujeito na sala comum; (iii) identificar se há articulação entre os panoramas legislativos da educação inclusiva e as práticas educativas perante ao contexto escolar; (iv) entender os processos de subjetivação do sujeito subjetivado como tendo síndrome; (v) conhecer as práticas educativas desenvolvidas como tal sujeito, no âmbito da escola comum e do atendimento educacional especializado (AEE), a partir das contribuições sócio-histórica. Na construção deste estudo, o referencial metodológico adotado, foi a abordagem qualitativa de pesquisa, do tipo etnográfico, a partir de um estudo de caso, que sinaliza uma tentativa de compreensão detalhada dos significados, comportamentos, ações e situações vivenciadas por Samuel, sujeito da pesquisa, no ínterim do seu cotidiano escolar. Por fim, concluiu-se que o sujeito foi além de um diagnóstico patologizante e que foi capaz de construir a partir dos seus diversos diálogos, processos de ensino e aprendizagem com outro, para além da subjetivação da Síndrome de Prader-Willi.
This study entitled "The student with Prader-Willi syndrome in the regular school: inclusion, education and subjective processes" presents data collected from a survey for the course of Master of Education of the Graduate Program - Federal University of the Holy Spirit - UFES. It aims to understand the process of adding a subjectivized student as having Prader-Willi syndrome in the context of primary education at a public school in Vitoria-ES. Specifically, it was intended: (i) to investigate behavioral characteristics of Prader-Willi syndrome; (ii) to meet the Prader-Willi syndrome individual as he /she is inserted in the context of a regular classroom environment; (iii) to identify whether there are links between the legislative´s overview about inclusive education and educational practices in the school´s context; (iv) to understand the processes of subjectivity of the individual who´s subjectivized as having the syndrome; (v) to acquaint the educational practices developed on such subject, in the regular school´s environment and also in the Specialized Educational Services (AEE), considering the socio-historical contributions. In the construction of this study, the qualitative research was adopted as the reference methodology. Its type was the ethnographic, from a case study, which signals an attempt to detailed understanding of the meanings, behaviors, actions and situations experienced by Samuel, the individual of this research, during his school routine. Finally, it was concluded that the individual was way beyond a pathologic diagnosis and was able to develop in his various dialogues, processes of teaching and learning with others, although the subjectivity of Prader-Willi syndrome.

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Debladis, Jimmy. « Traitement des signaux de communication dans le syndrome de Prader-Willi : aspects descriptifs, analytiques et évolutifs ». Thesis, Toulouse 3, 2019. http://www.theses.fr/2019TOU30036.

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Le syndrome de Prader-Willi (SPW) est un syndrome génétique rare qui touche 1 naissance sur 20 000 en France dont les deux origines génétiques les plus fréquentes sont la délétion de la région 15q11q12 du chromosome 15 paternel et la disomie maternelle. Ce syndrome est marqué par une hypotonie néonatale, puis au cours du développement, apparaissent l'hyperphagie, les troubles de la satiété et des troubles comportementaux. Sur le plan social, ces patients ont des interactions sociales atypiques, faisant référence à celles décrites dans les troubles du spectre de l'autisme (TSA). Dans le SPW, les données concernant les troubles du comportement et les troubles des interactions sociales sont rares. Il est détaillé que ces patients ont des déficits de reconnaissance des émotions et des signatures cérébrales en réponse aux visages atypiques. Néanmoins, beaucoup de processus de traitement des signaux sociaux restent encore inexplorés. Cette thèse permet d'apporter de nouvelles données sur les processus de traitement des voix et des visages qui pourraient être altérés dans le SPW. Nous avons développé un ensemble complet de tests comportementaux simples qui visent à étudier le traitement des voix et des visages. Nous avons démontré que les patients avec un SPW avaient une lenteur motrice et perceptive. De plus, nous relevons un déficit de traitement des visages, mais qui n'est pas généralisable aux voix. Selon nous, les déficits présents sur le traitement des visages, pourraient provenir d'un trouble dans la perception globale et dans l'unification de plusieurs sources d'informations entre elles, faisant référence à la cohérence centrale. Enfin, nous avons montré que globalement, les patients avec une disomie souffrent de troubles sociaux plus sévères que les patients avec une délétion. Par ailleurs, un versant thérapeutique est développé avec l'administration d'ocytocine (OT) chez les enfants et les adultes avec un SPW. L'OT a, au cours des dernières années, fait l'objet d'un vif intérêt pour les populations ayant des troubles des interactions sociales. Ce versant thérapeutique permettra d'étudier les effets à long terme de l'OT sur des enfants et les potentiels bénéfices d'un traitement sur les comportements alimentaires et sociaux
Prader-Willi syndrome (PWS) is a rare genetic syndrome affecting around 1 in 20,000 births in France. The two most frequent genetic origins are either a deletion in the 15q11q12 region on the paternal chromosome 15 or maternal uniparental disomy. This syndrome is easily identified through hypotonia and feeding difficulties observed at birth; then marked by hyperphagia, a constant sensation of hunger and behavioural difficulties that appear in time. From a social point of view, these patients present with atypical social interactions, similar to those reported in autism spectrum disorder (ASD). In PWS, very little research has been done concerning the behavioural and social interaction difficulties observed. Previous research has shown that these patients have deficits in recognizing emotions as well as atypical cortical signatures in response to faces. Nonetheless, an unexplored gap remains regarding how social signals are treated and analyzed. This thesis brings new data on potentially altered vocal and facial treatment processes in PWS. We developed a completed battery of behavioural tests aiming to study how voices and faces are processed. We demonstrated that patients with PWS have slower motor and perceptive skills. Furthermore, we identified a facial processing deficit that is not present for voiced. We suggest that the facial processing deficits observed could originate from a global perception deficit and the unification of several sources of information, thereby relating to the central coherence. Finally, we showed that patients with a materal disomy suffered from more severe social interaction difficulties than patients presenting with a deletion. Additionally, a therapeutic axis will be developed with the administration of oxytocin in children and adults with PWS. Oxytocin, over these past few years, has gained renewed interest for individuals with social interaction deficits. This therapeutic axis will allow us to study the long-term effects of oxytocin on children and the potential benefits of a treatment on the social and feeding behaviours

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Fieldstone, Annette. « Obesity of Prader-Willi Syndrome and Normal Obese controls I. Macronutrient Preferences II. Food Intake Patterns ». The Ohio State University, 1995. http://rave.ohiolink.edu/etdc/view?acc_num=osu1392220141.

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Hooren, Robert Hubertus Ludovicus Catharina van. « What is eating them ? moral considerations in the management of obesity in the case of Prader-Willi syndrome / ». Maastricht : Maastricht : Universitaire Pers Maastricht ; University Library, Universiteit Maastricht [host], 2007. http://arno.unimaas.nl/show.cgi?fid=9386.

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Estival, Séverine. « Apport de la psychologie cognitive à l’élaboration d’un programme de remédiation de la planification pour des patients atteints du syndrome de Prader-Willi. : Étude de ses effets en termes de développement des capacités exécutives et d'adaptation ». Thesis, Bordeaux, 2019. http://www.theses.fr/2019BORD0328.

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Le Syndrome de Prader-Willi (SPW) est une maladie neuro-développementale rare d’origine génétique associée à des troubles comportementaux (obsession pour la nourriture, labilité émotionnelle) et cognitifs. La pathologie est généralement associée à un faible niveau intellectuel, ainsi qu’un fonctionnement exécutif altéré. Les patients ont notamment un déficit dans la fonction de planification, ce qui conduit à des difficultés pour anticiper et organiser leurs actions. La remédiation cognitive a pour objectif de proposer des exercices d’entrainement ou des techniques compensatoires pour pallier ces difficultés. À l’aide des connaissances sur le fonctionnement exécutif, l’un des objectifs de ce travail de thèse était de développer un programme de remédiation cognitive de la planification, en tant que fonction exécutive de haut niveau, pour des adultes atteints du SPW. Un autre objectif était d’évaluer la faisabilité d’un tel programme auprès d’une population avec déficit intellectuel, comme dans le SPW. Enfin, le dernier objectif était d’évaluer l’efficacité de ce programme de remédiation de la planification, ainsi que l’effet de l’entrainement de cette fonction sur d’autres fonctions exécutives (mise à jour des informations, alternance et inhibition). Un essai randomisé contrôlé en double-aveugle a été réalisé sur les performances d’un groupe expérimental (n = 27) et celles d’un groupe contrôle (n = 26) pour répondre à ces objectifs. Une étude en cas uniques expérimentaux auprès de 4 patients a été conduite par la suite pour évaluer les effets d’une intervention plus soutenue. Les résultats ont globalement montré la faisabilité du programme de remédiation cognitive auprès d’adultes atteints du SPW. Les performances en planification des patients, évaluées au travers de tests neuropsychologiques, de mesures qualitatives et de mesures quantitatives répétées, se sont améliorées après l’intervention. L’évaluation des autres fonctions exécutives n’a pas montré d’évolution significative, ne permettant pas de conclure sur leurs liens avec la planification chez les patients atteints du SPW. Enfin, ce travail a montré l’importance d’utiliser un programme adapté à la population d’intérêt afin de permettre une meilleure compréhension des enjeux de la remédiation et d’impliquer les patients dans leur rééducation, avec des méthodes variées et personnalisées pour en évaluer les effets
Prader-Willi Syndrome (PWS) is a rare neurodevelopmental genetic disorder associated with behavioural (obsession with food, emotional lability) and cognitive disorders. Pathology is usually associated with low intellectual level as well as impaired executive functioning. Patients have a particular deficit in the planning function, which leads to difficulties in anticipating and organising their actions. The purpose of cognitive remediation is to propose training exercises or compensatory techniques to overcome these difficulties. One of the objectives of this thesis was to develop a cognitive remediation program for the planning function as a high-level executive function for adults with PWS, using knowledge of executive functioning. Another objective was to evaluate the feasibility of such a program for a population with an intellectual deficit, as in the PWS. Finally, the last objective was to evaluate the effectiveness of this planning remediation program, as well as the effect of training this function on other executive functions (updating, switching and inhibition). A randomised double-blind controlled trial was performed on the performance of an experimental group (n = 27) and a control group (n = 26) to meet these objectives. A single-case experimental design was later conducted on 4 patients to evaluate the effects of a more sustained intervention. Overall, the results showed the feasibility of the cognitive remediation program for adults with PWS. Patients’ planning performance, assessed through neuropsychological tests, qualitative measures, and repeated quantitative measures, improved after the intervention. The evaluation of the other executive functions did not show any significant evolution, not allowing to conclude on their links with the planning function in patients with PWS. Finally, this work has shown the importance of using a program adapted to the population of interest to allow a better understanding of the challenges of cognitive remediation and involve patients in their rehabilitation, with varied and personalised methods to evaluate its effectiveness

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Piro-Hussong, Aline [Verfasser], et Alexander von [Akademischer Betreuer] Gontard. « Ausscheidungsstörungen bei Personen mit Fragilem-X- und Prader-Willi-Syndrom / Aline Piro-Hussong. Betreuer : Alexander von Gontard ». Saarbrücken : Saarländische Universitäts- und Landesbibliothek, 2014. http://d-nb.info/1056906944/34.

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Glattard, Mélanie. « Aspects psychologiques, cognitifs et comportementaux d'enfants présentant un syndrome de Prader-Willi : étude transversale et étude longitudinale ». Phd thesis, Université Toulouse le Mirail - Toulouse II, 2012. http://tel.archives-ouvertes.fr/tel-00718614.

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Cette étude vise à décrire les caractéristiques psychologiques, cognitives et comportementales d'individus présentant un syndrome de Prader-Willi (SPW) au cours de la petite enfance et de l'enfance. La population est constituée de 36 enfants âgés de 2,5 à 15 ans, suivis régulièrement par le centre de référence du SPW. Trois études prospectives sont présentées. La première décrit la prise en charge et la scolarité de ces 36 enfants, leurs compétences cognitives et leurs comportements adaptatifs ainsi que les comportements connus comme problématiques chez les adolescents et les adultes SPW. L'ensemble de ces données sont étudiées de façon comparative entre les enfants de moins de 5 ans et ceux de plus de 6 ans. Nos résultats apportent un éclairage nouveau sur les caractéristiques de ces jeunes enfants SPW qui sont, en de nombreux points, différentes des descriptions issues des études rétrospectives. La seconde étude transversale décrit les aptitudes des 27 enfants de plus de 6 ans à apparier, dénommer et attribuer des émotions. Leurs performances sont comparées à celles d'enfants typiques appariés sur l'âge de développement et sur l'âge chronologique. Les résultats de cette étude pionnière montrent que les enfants SPW ont des compétences hétérogènes pour identifier les émotions, il existe à la fois un effet de l'émotion et un effet de la tâche. Enfin, la dernière étude présente les résultats d'un suivi longitudinal de 4 ans pour 10 enfants. Les compétences cognitives et les comportements adaptatifs sont ici décrits dans leur évolution, en précisant l'émergence de certains troubles du comportement.

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Cruvinel, Estela Mitie. « Estudo da expressão diferencial de genes localizados no segmento cromossômico 15q11-q13 em pacientes com as síndromes de Angelman e Prader-Willi ». Universidade de São Paulo, 2015. http://www.teses.usp.br/teses/disponiveis/41/41131/tde-24092015-133351/.

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A síndrome de Prader Willi (PWS) é uma doença de neurodesenvolvimento; a principal hipótese de causa de PWS é a ausência da expressão de SNORD116. O SNORD116 fica na região 15q11-q13 que apresenta vários genes com imprinting genômico e é conhecida por ser controlada pela região de controle de imprinting PWS (PWS-IC) que se localiza sobreposta à região promotora e ao exon 1 do gene SNRPN. Em camundongos, uma proteína zinc finger (Zfp57) foi descrita como importante para o estabelecimento e manutenção do imprinting no Snrpn. Através de análise do ENCODE do Genome Browser, verificamos que outra proteína zinc finger (ZNF274) se liga ao SNORD116. ZNF274 é conhecida por formar um complexo com TRIM28 e SETDB1 que inibe a expressão através da trimetilação da lisina 9 na histona 3 (H3K9me3). No atual estudo mostramos que ZNF274 se liga ao SNORD116 preferencialmente ao alelo materno nas células-tronco pluripotente induzidas (iPSCs). Adicionalmente, as proteínas TRIM28 e SETDB1, que formam um complexo com a ZNF274, estão presentes na região do SNORD116, e a modificação H3K9me3 ocorre preferencialmente no alelo materno nas iPSCs. Na análise funcional, mostramos que o knockdown de SETDB1 isoladamente ou combinado com o knockdown de ZNF274 causa aumento na expressão de SNRPN e SNORD116 nas iPSCs. Além disso, ocorre redução do H3K9me3 e aumento da modificação relacionada à ativação da transcrição, H3K4me2 (dimetilação da lisina 4 na histona 3), na PWS-IC. Os knockdowns também afetam a metilação de DNA, ocasionando o aumento de 5-hidroximetliação de citosinas na PWS-IC. Em outros tipos celulares estudados, neurônios derivados de iPSCs e SHEDs, ZNF274 e a modificação H3K9me3 ocorrem em ambos os alelos dentro do SNORD116. É possível que, nas iPSCs, este complexo proteja a região imprintada da desmetilação do DNA de proteína(s) que atue(m) nessa região somente em células pluripotentes. Nossos achados possibilitam melhor compreensão dos mecanismos envolvidos no imprinting da região 15q11-q13, principalmente do SNORD116, e, consequentemente, disponibiliza novas ferramentas para o desenvolvimento de futuras terapias para PWS.
Prader-Willi syndrome (PWS) is a neurodevelopmental disorder. Loss of paternal copies of the cluster of SNORD116 C/D box snoRNAs and their host transcript, 116HG, on human chromosome 15q11-q13 imprinted region is considered to be the major responsible for PWS. PWS-imprinting center (PWS-IC) regulates 15q11-q13 imprinting. PWS-IC is located upstream and in the exon 1 of SNURF-SNRPN gene. In mice, Zfp57 plays an important role in establishment and maintenance of Snrpn imprinting. In human, ENCODE database indicates that ZNF274 binds to SNORD116. Moreover, ZNF274 are C2H2/KRAB zinc finger proteins as Zfp57. We have investigated the mechanism of repression of the maternal SNORD116. Here, we report that the ZNF274, in association with the histone H3 lysine 9 (H3K9) methyltransferase SETDB1, is part of a complex that binds to the silent maternal but not to the active paternal alleles in induced pluripotent stem cells (iPSCs). Knockdown of SETDB1 in PWS-specific iPSCs causes a decrease in the accumulation of H3K9 trimethylation (H3K9me3) at SNORD116. We also show that upon knockdown of SETDB1 in PWS-specific iPSCs, expression of maternally silenced 116HG RNA is partially restored. SETDB1 knockdown in PWS iPSCs also disrupts DNA methylation at the PWS-IC where a decrease in 5-methylcytosine is observed in association with a concomitant increase in 5-hydroxymethylcytosine. In iPSCs-derived neurons and stem cells from human exfoliated teeth (SHEDs) ZNF274/SETDB1 complex binding and H3K9me3 modification occur in both alleles. These observations suggest that the ZNF274/SETDB1 complex bound to the SNORD116 cluster may protect the PWS-IC from DNA demethylation during early development, as indicated by iPSCs. Our findings reveal novel epigenetic mechanisms that function to repress the maternal 15q11-q13 region. The better understanding of epigenetic mechanisms provides new tools for future therapy research.

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Borie, Amélie. « Régulation des comportements sociaux par l'action séquentielle de l'ocytocine et de la vasopressine dans le septum latéral ». Thesis, Montpellier, 2018. http://www.theses.fr/2018MONTT015/document.

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Contexte : L’ocytocine (OT) et la vasopressine (VP) modulent les comportements sociaux. Leurs rôles ont été étudiés indépendamment l’un de l’autre mais des effets combinatoires de ces deux peptides sont à envisager puisqu’ils sont tous les deux libérés au cours des comportements sociaux. Dans le septum latéral (SL), une structure cérébrale intégrant des informations sociales, l’ocytocine et la vasopressine sont libérées au cours des interactions sociales et modulent la reconnaissance ainsi que la discrimination sociale.Objectif : Comprendre la fonction duale de l’ocytocine et de la vasopressine mise en jeu lors des interactions sociales dans un cadre physiologique et pathologique. Méthode : Chez la souris mâle, nous avons utilisé l’activité électroencéphalographique (EEG) comme marqueur et avons caractérisé des traces EEG dépendantes de l’OT et de la VP. Nous avons manipulé le système OT et le système VP au sein du septum au cours d’un protocole de reconnaissance/discrimination sociale en utilisant des outils pharmacologiques ou optogénétiques. Des expériences d’électrophysiologie sur tranche ont permis de caractériser la réponse électrophysiologique des neurones du septum latéral à l’application de chacun de ces peptides.Résultats : L’étude de l’activité EEG nous a permis de discriminer des effets induits par l’action septale de l’OT et la VP dans la bande de fréquence theta. Ces résultats suggèrent que la VP serait libérée dans le septum au cours de la première rencontre avec un juvénile alors que l’OT serait libérée au cours du processus d’habituation. La modulation de l’action de l’OT et de la VP sur le SL démontre que l’activation des récepteurs V1a au cours de la première rencontre est essentielle à la discrimination sociale tandis que l’activation des récepteurs à l’OT au cours du processus d’habituation permet de regain d’intérêt lorsqu’un nouveau juvénile sera présenté. Nous montrons aussi que l’OT et la VP modulent l’activité électrique de la quasi-totalité des neurones septaux. La nature de ces modulations définit 3 catégories de neurones qui communiquent entre eux via des signaux GABAergiques. Chez la souris Magel2KO, un modèle murin de troubles des comportements sociaux, la balance des effets septaux de l’OT et de la VP est altérée. Ceci suggère que cette régulation pourrait être impliquée dans certaines conditions pathologiques.Conclusion : Ces résultats mettent en évidence qu’il est essentiel, lorsque l’on étudie l’ocytocine, d’étudier le système vasopressinergique. Avec cette approche, nous avons montré que l’activation séquentielle du SL par l’OT et la VP est importante pour la régulation des interactions sociales. De plus, cette séquence d’évènements est altérée dans un modèle animal présentant des troubles sociaux
Context : Oxytocin (OT) and vasopressin (VP) modulate social behaviors. The roles of OT and VP have been interrogated so far in isolation whereas combinatorial effects are anticipated as both hormones are secreted during social behavior. In the lateral septum (LS), a brain area processing behavioral social cues, OT and VP are released during social interaction and modulate social recognition or discrimination. Aim : To understand the dual function of OT and VP during social behavior in physiological and pathological conditions. Methods : In male mice, we used electroencephalographic (EEG) activity as a readout to characterize OT and VP dependent electrophysiological signatures and their sequence. We manipulated OT and VP systems to LS during social recognition/discrimination paradigm using pharmacology and optogenetic tools. Using slice electrophysiology, we characterized electrophysiological responses of LS neurons to both of these hormons.Results : Measurement of EEG theta activity allowed us to discriminate between OT and VP dependent LS modulation and indicated that VP would be released in the LS during 1st encounter with a juvenile while OT would be released during the habituation process. Modulation of OT and VP actions on the LS demonstrate that V1a activation during 1st encounter is essential for social discrimination and OT receptor activation during the habituation process allows the regain of interest for a new juvenile. We also demonstrated that OT and VP modulate electrical activity of almost all LS neurons. The nature of this modulation define 3 neuronal categories that communicate with each other through GABAergic signalling. Magel2KO mouse, which features social deficits, presents an altered balance of LS regulation by OT and VP. It suggests that this regulation could be involved in some pathological symptomatology.Conclusions : These results shed a light on the necessity to study vasopressin along with oxytocin. Doing this, we showed that vasopressinergic and oxytocinergic activation of the LS are sequentially important during the social recognition paradigm. Futhermore, this sequence of events is impaired in a mouse model featuring deficits of OT and social disabilities

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Peters, Rosie Elizabeth. « Identifying novel targets for the snoRNA class of stable non-coding RNAs ». Thesis, University of Edinburgh, 2018. http://hdl.handle.net/1842/33123.

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Non-coding RNAs (ncRNAs) are a subset of RNAs that do not code for protein. They are divided into a number of different groups based on their function and targets. Small nucleolar RNAs (snoRNAs) are ncRNAs that have long been known to function as guides for ribosomal RNA (rRNA) modifying enzymes. They are classified into two major groups: box C/D snoRNAs and box H/ACA snoRNAs. Most box C/D snoRNAs direct the 2'-O-methylation of rRNA substrates, but some lack known targets and are therefore termed 'orphan snoRNAs'. Studies have implicated orphan snoRNAs in pre-mRNA processing and stability, but the functional consequence of snoRNA binding to mRNAs has not been fully determined. Saccharomyces cerevisiae had two orphan snoRNAs, snR4 and snR45, with no known function in ribosome synthesis. This project aimed to determine the targets of these snoRNAs, and investigate the effects of snoRNA binding to non-canonical target RNAs, as well as the underlying mechanism. Synthetic gene array screens with deletions of the SNR4 and SNR45 genes identified multiple positive and negative genetic interactions. In particular, deletion of either snoRNA gene was synthetic-lethal with mutation of the snoRNA-associated methyltransferase, Nop1 (Fibrillarin in humans), demonstrating that both have important functions. CLASH analyses of RNA-RNA interactions showed that these snoRNAs bind multiple mRNAs, while RNA sequencing and RT-qPCR revealed that snoRNA deletion altered mRNA abundance. Both orphan snoRNAs were well conserved between fungi, with a region of high conservation indicating a potential binding site. Associations were identified between snR4 and snR45 and multiple sequences within rRNA, including two recently identified sites of 18S rRNA acetylation. Work elsewhere showed that snR4 and snR45 function as guides for the acetyltransferase Kre33 using the region of high conservation, removing their 'orphan' status. Orphan snoRNAs have been implicated in human diseases, such as Prader Willi Syndrome and cancers. The work discussed in this thesis helps to elucidate the RNA interactions of yeast orphan snoRNAs. It has provided a greater understanding of the mechanisms involved, and may inform future work in combatting human disease.

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Kristic, Balart Amalia. « Patrones de apego y representaciones parentales en díadas con niños preescolares entre 2 y 5 años, de ambos sexos, que representan síndrome de Prader-Willi ». Tesis, Universidad de Chile, 2014. http://repositorio.uchile.cl/handle/2250/131048.

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Magíster en Psicología, Mención Psicología Clínica Infanto Juvenil
La presente investigación tiene por objeto, caracterizar las organizaciones de apego en niños preescolares que presentan Síndrome de Prader-Willi y describir las representaciones parentales, en el marco de la teoría de apego propuesta por Bowlby y Ainsworth, y en consideración del modelo dinámico-madurativo del apego de Crittenden. La relevancia de este estudio se basa en la escasa evidencia que existe en la evaluación del apego en niños preescolares, y específicamente, respecto del síndrome de Prader-Willi, lo cual se vuelve fundamental para la práctica clínica, y el adecuado abordaje del diagnóstico y sus dificultades a nivel familiar. Se utiliza un diseño cualitativo-observacional, aplicado a 4 díadas (madre e infante) entre los 2 y 5 años de edad, correspondientes en su mayoría la Región Metropolitana de Santiago. Los instrumentos utilizados son el PAA (Preschool Assesment of Attachment) y la entrevista semi-estructurada

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Correa, Erika Antunes. « Estudo do sono na síndrome de Prader-Willi com e sem tratamento com hormônio de crescimento humano recombinante ». Universidade de São Paulo, 2013. http://www.teses.usp.br/teses/disponiveis/5/5138/tde-26032013-111910/.

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INTRODUÇÃO: A Síndrome de Prader-Willi (SPW) é uma doença multigênica causada pela perda de expressão de genes na região 15q11- q13. As principais características incluem hipotonia e disfunção hipotalâmica, que pode ser responsável pela hiperfagia levando a obesidade durante a infância, por controle ventilatório anormal e deficiência do Hormônio de Crescimento (GH). O objetivo deste estudo foi descrever e comparar o sono dos pacientes com SPW, descrever o IGF-I e correlacionar o IAH com IGF-I. MÉTODOS: Foram realizadas polissonografias em 17 pacientes (idade entre 3 anos e 18 anos) com SPW divididos em dois grupos, GH+ (n=9) e GH- (n=8). Trata-se de um estudo prospectivo realizado com pacientes do ambulatório de Endocrinologia do Instituto da Criança da Universidade de São Paulo, tendo sido obtido de seus prontuários resultados de IGF-I sérico anterior à realização do exame. RESULTADOS: Os grupos GH+ e GHforam homogêneos. Quatorze (82,3%) dos pacientes eram obesos, 8 (88,9%) GH+. Todos os pacientes apresentaram Índice de Apneia e Hipopneia (AH) 1. 88,2% dos pacientes apresentaram ronco. A eficiência do sono foi menor em 7 (41,2%) pacientes, sendo 6 (85,7%) do grupo GH+. 23,5% dos pacientes apresentaram porcentagem diminuída do sono de ondas lentas e 29,4% dos pacientes de sono REM. Cinco (29,5%) pacientes apresentaram latência de sono REM diminuída, sendo 2 (40%) paciente GH+ e 4 (23,6%) pacientes latência de sono aumentada, sendo 2 (50%) GH+. Todos os pacientes apresentaram fragmentação do sono. Os eventos mais comuns foram as hipopneias e as apneias obstrutivas. Três (17,7%) pacientes, sendo 1 (11,1%) GH+ apresentaram episódios de dessaturação importantes com mínima 65% e média 85%. Não foram encontradas correlação entre o IAH e IGF-I (p = 0,606). Não houve diferença estatisticamente significante entre os dados polissonográficos de ambos os grupos. CONCLUSÕES: Todos os pacientes apresentaram IAH 1, dessaturação de oxigênio com predomínio em sono REM e fragmentação do sono. Não foram encontradas diferenças na correlação do IGF-1 com IAH. Não foram encontradas diferenças entre os grupos GH+ e GH- em relação aos dados antropométricos e polissonográficos
BACKGROUND: Prader-Willi syndrome (PWS) is a multigenic disorder caused by the loss of expression of genes in the 15q11-q13 region. The main features include hypotonia and hypothalamic dysfunction that may be responsible for hyperphagia leading to obesity during childhood, abnormal ventilatory control and Growth Hormone (GH) deficiency. The aim of this study is to describe and compare the sleep of patients with PWS, describe the IGF-I and correlate IGF-I with AHI. METHODS: All polysomnographic (PSG) studies were performed in 17 patients (aged between 3 years and 18 years) with PWS divided in 2 groups, as follows: GH + (n = 9) and GH- (n = 8). This prospective study was conducted at the Endocrinologic Outpatient Clinic (Children\'s Hospital, University of São Paulo) and results of IGF-I serum were obtained from their medical records prior to the PSG. RESULTS: The groups GH + and GH-were homogeneous. 82,3% patients were obese, 8 (88.9%) GH +. All patients had AHI 1. 88,2% patients presented snoring. The sleep efficiency was lower in 7 (41.2%) patients, 6 (85.7%) GH +. 23,5% patients showed reduced percentage of slow wave sleep and 29,4% patients showed reduced percentage of REM sleep . Five (29.5%) patients had reduced REM latency, 2 (40%) GH + and 4 (23.6%) patients had increased REM latency, 2 (50%) GH+. All patients had sleep fragmentation. The most common events were hypopneas and obstructive apneas. Three (17.7%) patients, 1 (11.1%) GH+ had important desaturation (SatO2 minimum 65% and SatO2 average 85%. No correlation was found between the AHI and IGF-I (p = 0.606). There were no statistically significant differences between polysomnographic data from both groups. CONCLUSIONS: All patients had AHI 1, oxygen desaturation predominating in REM sleep and sleep fragmentation. No differences were found in the correlation of IGF-1 with IAH. No differences were found between groups GH + and GH- in relation to anthropometric and polysomnographic data

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