Alteraciones psicopatológicas en el síndrome de Prader-Willi
Tài liệu tham khảo
Cassidy, 1997, Prader-Willi syndrome, J Med Genet., 34, 917, 10.1136/jmg.34.11.917
Manzardo, 2018, Survival trends from the Prader-Willi Syndrome Association (USA) 40-year mortality survey, Genet Med., 20, 24, 10.1038/gim.2017.92
Kim, 2006, Regional cerebral glucose metabolic abnormality in Prader-Willi syndrome: A 18F-FDG PET study under sedation, J Nucl Med., 47, 1088
Zhang, 2015, The neurobiological drive for overeating implicated in Prader-Willi syndrome, Brain Res., 1620, 72, 10.1016/j.brainres.2015.05.008
Lukoshe, 2013, Divergent structural brain abnormalities between different genetic subtypes of children with Prader-Willi syndrome, J Neurodev Disord., 5, 31, 10.1186/1866-1955-5-31
Avrahamy, 2015, A disease specific questionnaire for assessing behavior in individuals with Prader-Willi syndrome, Compr Psychiatry., 58, 189, 10.1016/j.comppsych.2014.12.005
Dykens, 2007, Assessment of hyperphagia in Prader-Willi syndrome, Obesity (Silver Spring)., 15, 1816, 10.1038/oby.2007.216
Thuilleaux, 2018, A model to characterize psychopathological features in adults with Prader-Willi syndrome, Am J Med Genet A., 176, 41, 10.1002/ajmg.a.38525
Grechi, 2012, Prader-willi syndrome: Clinical aspects, J Obes., 2012, 473941
Curfs, 1991, Strengths and weaknesses in cognitive profile of youngsters with Prader-Willi syndrome, Clin Genet., 40, 430, 10.1111/j.1399-0004.1991.tb03114.x
Lo, 2015, Visual-motor integration in children with Prader-Willi syndrome, J Intellect Disabil Res., 59, 827, 10.1111/jir.12197
Lo, 2013, Impaired theory of mind and symptoms of autism spectrum disorder in children with Prader-Willi syndrome, Res Dev Disabil., 34, 2764, 10.1016/j.ridd.2013.05.024
Stauder, 2005, Differences in behavioural phenotype between parental deletion and maternal uniparental disomy in Prader-Willi Syndrome: An ERP study, Clin Neurophysiol., 116, 1464, 10.1016/j.clinph.2005.02.019
Dykens, 1999, Maladaptive behavior differences in Prader-Willi syndrome due to paternal deletion versus maternal uniparental disomy, Am J Ment Retard., 104, 67, 10.1352/0895-8017(1999)104<0067:MBDIPS>2.0.CO;2
Symons, 1999, Self-injurious behavior and Prader-Willi syndrome: Behavioral forms and body locations, Am J Ment Retard., 104, 260, 10.1352/0895-8017(1999)104<0260:SBAPSB>2.0.CO;2
Dykens, 1992, Adaptive and maladaptive behavior in Prader-Willi Syndrome, J Am Acad Child Adolesc Psychiatry., 31, 1131, 10.1097/00004583-199211000-00023
Klabunde, 2015, Neural correlates of self-injurious behavior in Prader-Willi syndrome, Hum Brain Mapp., 36, 4135, 10.1002/hbm.22903
Pujol, 2016, Anomalous basal ganglia connectivity and obsessive-compulsive behaviour in patients with Prader Willi syndrome, J Psychiatry Neurosci., 41, 261, 10.1503/jpn.140338
Bueno, 2016, Lack of postprandial peak in brain-derived neurotrophic factor in adults with Prader-Willi syndrome, PLoS One., 11, e0163468, 10.1371/journal.pone.0163468
Giménez-Palop, 2007, A lesser postprandial suppression of plasma ghrelin in Prader-Willi syndrome is associated with low fasting and a blunted postprandial PYY response, Clin Endocrinol (Oxf)., 66, 198, 10.1111/j.1365-2265.2006.02707.x
Zipf, 1987, Characteristics of abnormal food-intake patterns in children with Prader-Willi syndrome and study of effects of naloxone, Am J Clin Nutr, 26, 277, 10.1093/ajcn/46.2.277
Hone-Blanchet, 2014, Overlap of food addiction and substance use disorders definitions: Analysis of animal and human studies, Neuropharmacology., 85, 81, 10.1016/j.neuropharm.2014.05.019
Butler, 2017, Causes of death in Prader-Willi syndrome: Prader-Willi Syndrome Association (USA) 40-year mortality survey, Genet Med., 19, 635, 10.1038/gim.2016.178
Tunnicliffe, 2014, Temper outbursts in Prader-Willi syndrome: Causes, behavioural and emotional sequence and responses by carers, J Intell Disabil Res., 58, 134, 10.1111/jir.12010
Dimitropoulos, 2001, Emergence of compulsive behavior and tantrums in children with Prader Willi syndrome, Am J Ment Retard., 106, 39, 10.1352/0895-8017(2001)106<0039:EOCBAT>2.0.CO;2
Ogata, 2014, Autism spectrum disorders and hyperactive/impulsive behaviors in Japanese patients with Prader-Willi syndrome: A comparison between maternal uniparental disomy and deletion cases, Am J Med Genet A., 164A, 2180, 10.1002/ajmg.a.36615
Vogels, 2003, Chromosome 15 maternal uniparental disomy and psychosis in Prader-Willi syndrome, J Med Genet., 40, 72, 10.1136/jmg.40.1.72
Shriki-Tal, 2017, Psychiatric disorders in a cohort of individuals with Prader-Willi syndrome, Eur Psychiatry., 44, 47, 10.1016/j.eurpsy.2017.03.007
Beardsmore, 1998, Affective psychosis and Prader-Willi syndrome, J Intellect Disabil Res., 42, 463, 10.1046/j.1365-2788.1998.4260463.x
Webb, 2008, In search of the psychosis gene in people with Prader-Willi syndrome, Am J Med Genet A., 146A, 843, 10.1002/ajmg.a.32212
Soni, 2007, The course and outcome of psychiatric illness in people with Prader-Willi syndrome: Implications for management and treatment, J Intellect Disabil Res., 51, 32, 10.1111/j.1365-2788.2006.00895.x
Yang, 2013, Psychiatric illness and intellectual disability in the Prader-Willi syndrome with different molecular defects: A meta analysis, PLoS One., 8, e72640, 10.1371/journal.pone.0072640
Hartley, 2005, Maladaptive behaviors and risk factors among the genetic subtypes of Prader-Willi syndrome, Am J Med Genet A., 136, 140, 10.1002/ajmg.a.30771
Lukoshe, 2017, Aberrant white matter microstructure in children and adolescents with the subtype of Prader-Willi syndrome at high risk for psychosis, Schizophr Bull., 43, 1090, 10.1093/schbul/sbx052
Doe, 2009, Loss of the imprinted snoRNA mbii-52 leads to increased 5htr2c pre-RNA editing and altered 5HT2CR-mediated behaviour, Hum Mol Genet., 18, 2140, 10.1093/hmg/ddp137
Vortsman, 2006, Identification of novel autism candidate regions through analysis of reported cytogenetic abnormalities associated with autism, Mol Psych., 11, 18, 10.1038/sj.mp.4001757
Bennett, 2015, Autism spectrum disorder in Prader-Willi syndrome: A systematic review, Am J Mel Genet A., 167A, 2936, 10.1002/ajmg.a.37286
Song, 2015, Comparative analysis of autistic traits and behavioral disorders in Prader-Willi syndrome and Asperger disorder, Am J Med Genet A., 167A, 64, 10.1002/ajmg.a.36787
Cox, 2015, The 15q11.2 BP1-BP2 microdeletion syndrome: A review, Int J Mol Sci., 16, 4068, 10.3390/ijms16024068
Vitiello, 1989, Obsessive-compulsive disorder in mentally retarded patients, J Nerv Ment Dis., 177, 232, 10.1097/00005053-198904000-00007
Wigren, 2005, ADHD symptoms and insistence on sameness in Prader-Willi syndrome, J Intellect Disabil Res., 49, 449, 10.1111/j.1365-2788.2005.00690.x
Skokauskas, 2012, Mental health problems in children with Prader-Willi syndrome, J Can Acad Child Adolesc Psychiatry., 21, 194
Sedky, 2014, Prader willi syndrome and obstructive sleep apnea: Co-occurrence in the pediatric population, J Clin Sleep Med., 10, 403, 10.5664/jcsm.3616
Cotton, 2006, Brief report: Parental descriptions of sleep problems in children with autism Down syndrome, and Prader-Willi syndrome, Res Dev Disabil., 27, 151, 10.1016/j.ridd.2004.12.003
Powell, 2013, A Prader-Willi locus lncRNA cloud modulates diurnal genes and energy expenditure, Hum Mol Genet., 22, 4318, 10.1093/hmg/ddt281
Manzardo, 2017, Prader-Willi syndrome genetic subtypes and clinical neuropsychiatric diagnoses in residential care adults, Clin Genet.
Lo, 2015, Psychiatric disorders in children with Prader-Willi syndrome: Results of a 2-year longitudinal study, Am J Med Genet A., 167A, 983, 10.1002/ajmg.a.36998
Höybye, 2005, Cognitive, emotional, physical, and social effects of growth hormone treatment in adults with Prader-Willi syndrome, J Intellect Disabil Res., 49, 245, 10.1111/j.1365-2788.2005.00641.x
Haqq, 2003, Effects of growth hormone on pulmonary function, sleep quality, behavior, cognition, growth velocity, body composition, and resting energy expenditure in Prader-Willi syndrome, J Clin Endocrinol Metab., 88, 2206, 10.1210/jc.2002-021536
Moix-Gil, 2018, Treatment with growth hormone in the Prader-Willi syndrome, Endocrinol Diabetes Nutr., 65, 229
Puri, 2016, Prader-Willi syndrome, management of impulsivity, and hyperphagia in an adolescent, J Child Adolesc Psychopharmacol, 26, 403, 10.1089/cap.2015.0240
Miller, 2014, Effects of metformin in children and adolescents with Prader-Willi syndrome and early-onset morbid obesity: A pilot study, J Pediatr Endocrinol Metab., 27, 23
Salehi, 2017, Effects of exenatide on weight and appetite in overweight adolescents and young adults with Prader-Willi syndrome, Pediatr Obes., 12, 221, 10.1111/ijpo.12131
Allas, 2018, AZP-531, an unacylated ghrelin analog, improves food-related behavior in patients with Prader-Willi syndrome: A randomized placebo-controlled trial, Plos One., 13, e0190849, 10.1371/journal.pone.0190849
Senda, 2012, The glucagon-like peptide-1 analog liraglutide suppresses ghrelin and controls diabetes in a patient with Prader-Willi syndrome, Endocr J., 59, 889, 10.1507/endocrj.EJ12-0074
De Waele, 2008, Long-acting octreotide treatment causes a sustained decrease in ghrelin concentrations but does not affect weight, behaviour and appetite in subjects with Prader-Willi syndrome, Eur J Endocrinol., 159, 381, 10.1530/EJE-08-0462
Caixàs, 2015, Cirugía bariátrica en el síndrome de Prader-Willi, 479
Bonnot, 2016, Psychotropic treatments in Prader-Willi syndrome: A critical review of published literature, Eur J Pediatr., 175, 9, 10.1007/s00431-015-2670-x
Elliott, 2015, Relationship between antipsychotics and weight in patients with Prader-Willi syndrome, Pharmacotherapy., 35, 260, 10.1002/phar.1558
Kido, 2013, Testosterone replacement therapy to improve secondary sexual characteristics and body composition without adverse behavioral problems in adult male patients with Prader-Willi syndrome: An observational study, Am J Med Genet A., 161A, 2167, 10.1002/ajmg.a.36048
Eiholzer, 2007, Clinical effects of treatment for hypogonadism in male adolescents with Prader-Labhart-Willi syndrome, Horm Res., 68, 178
Shapira, 2004, Effects of topiramate in adults with Prader-Willi syndrome, Am J Ment Retard., 109, 301, 10.1352/0895-8017(2004)109<301:EOTIAW>2.0.CO;2
Paepegaey, 2018, Impact of transitional care on endocrine and anthropometric parameters in Prader-Willi syndrome, Endocr Connect., 7, 663, 10.1530/EC-18-0089
Soni, 2008, The phenomenology and diagnosis of psychiatric illness in people with Prader-Willi syndrome, Psychol Med., 38, 1505, 10.1017/S0033291707002504
Tauber, 2011, Oxytocin may be useful to increase trust in others and decrease disruptive behaviours in patients with Prader-Willi syndrome: A randomised placebo-controlled trial in 24 patients, Orphanet J Rare Dis., 6, 47, 10.1186/1750-1172-6-47
Miller, 2014, An open-label pilot study of N-acetylcysteine for skin-picking in Prader-Willi syndrome, Am J Med Genet A., 164A, 421, 10.1002/ajmg.a.36306
Bravo, 2016, Transcranial direct current stimulation reduces food-craving and measures of hyperphagia behavior in participants with Prader-Willi syndrome, Am J Med Genet, 171B, 266, 10.1002/ajmg.b.32401
Manning, 2016, Novel insights into maladaptive behaviours in Prader-Willi syndrome: Serendipitous findings from an open trial of vagus nerve stimulation, J Intellect Disabil Res., 60, 149, 10.1111/jir.12203
De Cock, 2011, Efficacy of modafinil on excessive daytime sleepiness in Prader-Willi syndrome, Am J Med Genet A., 155A, 1552, 10.1002/ajmg.a.34047
Mourelo Álvarez, 2017, Guía de actuación en el síndrome Prader-Willi. Guía dirigida a personal sanitario para el adecuado conocimiento y manejo de una enfermedad poco frecuente llamada síndrome Prader-Willi, Osakidetza.
Gabau, 2015, Síndrome de Prader-Willi, 147
Asociación Síndrome Prader-Willi Andalucía. Manual para familiares de personas afectadas por el Síndrome de Prader Willi. Jaén: Asociación Síndrome Prader Willi Andalucía; 2009.