Resumenes de la Conferencia

Scientific Conference

• Characterizing and Understanding the PWS Phenotype
• The Prader-Willi Syndrome Genotype
• Managing Prader-Willi Syndrome
• Investigating Biological and Environmental Mechanisms Associated with the Phenotype of PWS
• Poster Session - Medical
• Poster Session - Behavioral / Psychological

Parents and Professionals Program

• Overview of Prader-Willi Syndrome, Suzanne B. Cassidy, M.D., USA
• Próximamente . . . más

Children's Program

The stars of the show, children and young adults with Prader-Willi Syndrome, were not to be left out! While delegates attended session after session about their health and futures, the Children's Program was busy having a great time! The first morning was spent in the beautiful Botanical Gardens of Cluj only be followed by an afternoon of crafts and games. A showing of Ice Age and a roaring game of dominoes turned out to be a group hit! The next day, rain could not keep them down as a guitar lead sing-along lifted everyone's spirits. The afternoon was certainly not a washout with a trip to the park and playground. Ages ranged from 3 to 37 years while the countries of Japan, Spain, Sweden, Romania, Netherlands, UK and Moldova were represented, providing a truly international experience!

• No. of PWS participants: 13
• No. of caretakers/volunteers: 20

Characterizing and Understanding the PWS Phenotype

Update of clinical correlations of genotypes in PWS, Speaker: Daniel Driscoll, M.D, Ph.D, USA

Actualización de las correlaciones clínicas de los genotipos en SPW

• Mortality in PWS: role of genotype, gender and gh therapy , Speaker: Graziano Grugni, M.D.
• Fertitlity and Infertility in PWS testicular histology in nine males with cryptorchidism , Speaker: Annick Vogels, M.D, Ph.D, Belgium
• Nutritional intake by young children with PWS , Speaker: Marianne Lindmark, Nutritionist, Norway
• Investigating the behavioural and psychiatric phenotype , Speaker: Elisabeth Dykens, Ph.D, USA
• The relationship between temper outbursts, repetitive behaviour and a preference for predictability in children with PWS , Speaker: Kate A. Woodcock, Ph.D. Student, UK
• Working memory in adults with PWS. Baseline data from a prospective, randomized study , Speaker: Ulla M.V.Bollerslev, M.Ed.Psych, Norway

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The Prader-Willi Syndrome Genotype

• Candidate genes for PWS , Speaker: Bernhard Horsthemke, Ph.D, Germany
• The small nucleolar rnas and their potential role in PWS , Speaker: Alexander Huttenhofer, Ph.D., Austria
• A master regulator of coordinate gene expression in PWS , Speaker: Mihaela Stefan, PhD, USA
• Phenotyping of adult mice with a deletion of the PWS imprinting center , Speaker: Anthony P. Goldstone, MA MRCP PhD, UK

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Managing PWS

Testosterone replacement therapy in 13 adults patients with PWS, Speaker: Toshiro Nagai, MD, Japan

Terapia de reemplazo de testosterona en 13 pacientes adultos con SPWS

• Body composition and GH response to Ghrh+Arginine in adult patients with PWS , Speaker: Graziano Grugni, MD, Italy
• Phenomenology and management of mood activation in PWS , Speaker: Janice L. Forster, MD, USA

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Investigating Biological and Environmental Mechanisms Associated with the Phenotype of PWS

• Neuroendocrine mechanisms in PWS phenotypes , Speaker: Anthony P. Goldstone, MA MRCP PhD., UK
• What can we learn from mouse models to better understand PWS? , Speaker: Francoise Muscatelli, Ph.D, France
• Behavioural analysis of a mouse model of PWS , Speaker: Dinko Relkovic, Italy
• Affective psychosis in people with PWS , Speaker: Tessa Webb, UK
• The role of family psychiatric history in the development of psychopathology in people with PWS , Speaker: Sarita Soni, UK
• PWS and others with early-onset morbid obesity share similar strengths in cognition and achievement , Speaker: Daniel Driscoll, M.D, Ph.D, USA
• An ethnography of residential services for adults with PWS: the role of the behavioural phenotype in staff members 'interpretations of residents' behaviours , Speaker: Rebecca Hawkins, UK

Growth hormone effects in infants and toddlers with PWS: does early intervention make a difference? , Speaker: Barbara Y. Whitman, Ph.D, USA

Efectos de la hormona de crecimiento en bebés y en niños que empiezan a andar con SPW: ¿marca diferencias la intervención temprana?

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Poster Session - Medical

• Adult PWS patients therapeutic cycles, Andreghetto et al.
• Effects on scoliosis in four patients with PWS treated with growth hormone for five years, Bianco et al.
• A boy with klinefelter syndrome and PWS: a clinical report, Collin et al.
• Multiform hypogonadism in male patients with PWS, Crinò et al.
• Multidisciplinary management of children with PWS in the french database of PWS, Diene et al.
• Evaluation of osteoporosis in women with PWS, DiGiorgio et al.
• Cross-cultural comparisons of obesity and spontaneous growth in France, Germany, USA and UK, Dudley & Muscatelli
• Polysomnography in adult individuals with PWS treated with GH, Fanari et al.
• Central hypothyroidism (CH) in patients with PWS during the first 2 years of postnatal life, Herzovich et al.
• The european PWS clinical research database, Holland et al.
• Assessment of accessibility to and quality of health and social services for patients with PWS in Italy and Romania, Kodra et al.
• Hormone replacement in adolescents and adults with PWS, Loughnan et al.

Growth hormone effect on muscle volume and scoliosis in PWS, Murakami et al.

Efecto de la hormona de crecimiento sobre la masa muscular y la escoliosis en SPW

• Somatic and behavioral differences in children with PWS, Popa et al.
• Pain threshold impairment in PWS: a neurophysiological study, Priano et al.
• Gastric necrosis is associated with normal BMI in PWS, Schulze et al.
• Ageing in people with PWS, Sinnema et al.
• Importance of the minor criteria for a positive clinical diagnosis of PWS patients, Skrypnyk et al.
• Beneficial effect of early use of growth hormone in patients with PWS, Tsuchiya et al.
• Nursing of adult patients with PWS, Varlan et al.
• Gait analysis in adult patients with PWS: a cross-sectional comparative study, Vismara et al.
• Sexual behavior in adolescents and adults with PWS, Whitman et al.
• DNA extraction from dried blood spots and methylation test for diagnosis of PWS patients, Zandona et al.

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Poster Session - Behavioral / Psychological

Correlation study of cognitive profile and adaptative behavior in PWS patients according to etiology, Abraldes et al.

Estudio de la correlación entre un perfil cognitivo y una conducta adaptativa en pacientes con SPW, según la etiología

Psychopathologic disorders and self injury in PWS, Buono et al.

Alteraciones psicopatológicas y autolesiones en el síndrome Prader-Willi

Psychosis in children with PWS: a case study, Collin et al.

Psicosis en niños con el síndrome Prader Willi: un estudio

Individuals with PWS and their perception of skin picking, Curfs et al.

Personas con síndrome Prader-Willi y su percepción al rascarse

Examining the nature of functional architecture support for visuo spatial working memory task performance in PWS, Grayson & Hamilton

Estudio del apoyo estructural y funcional de la realización de tareas de memoria activa visual-espacial en SPW

Clinical features and psychological profiles of PWS: comparison of genetic subtypes in 18 patients, Greco et al.

Características clínicas y perfiles psicológicos del SPW: comparación de los subtipos genéticos en 18 pacientes

Cognitive behavior therapy (cbt) for a young man with pws, Hasegawa

Terapia de comportamiento cognitivo (CBT) para jóvenes con PWS

Behavioural problems in individuals with PWS, Honey

Problemas de conducta en individuos con el síndrome Prader-Willi

Parent - child relationship in PWS: a narrative study, Landau et al.

La relación padres-hijos en el síndrome Prader-Willi: un trabajo narrativo

Quality of life and psychological well-being in GH-treated, adult pws patients: a longitudinal, Mori et al.

Cualidad de vida y bienestar psicológico en los adultos con PWS, tratados con GH: una visión longitudinal

Autistic symptomatology, PWS and its derivations for treatment, Rosell-Raga et al.

Sintomatología autista, PWS y sus consecuencias para el tratamiento

Math abilities in Prader-Willi Syndrome, Semensa et al.

Capacidades matemáticas en el síndrome de Prader-Willi

Repetitive behaviour and executive functions in PWS and in autism spectrum disorders, Tregay et al.

Conducta repetitiva y funciones ejecutivas en el SPW y en las enfermedades del espectro autista

Has gut-derived hormone pyy 3-36 a causative role in hyperphagia and obesity in PWS?, Viardot et al.

¿Tiene la hormona PYY 3-36 (de origen intestinal) una función causal en la hiperfagia y obesidad de PWS?

Relationship between Prader-Willi Syndrome and sibling ability (IQ), Whittington et al.

Relación entre el SPWS y las capacidades de los hermanos (IQ)