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Introduction: Prader-Willi syndrome (PWS) is a genetic disorder characterized by hypothalamic-pituitary deficiencies including hypogonadism. In girls with PWS, hypogonadism can present early in childhood, leading to genital hypoplasia, delayed puberty, incomplete pubertal development, and infertility. In contrast, girls can present with premature activation of the adrenal axis leading to early pubarche and advanced bone age. We aim to evaluate the progression of puberty and adrenarche signals in girls with PWS. Methodology: A longitudinal retrospective cohort study included girls with PWS followed at a Pediatric Endocrinology Outpatient Clinic in a Tertiary University Hospital in Sao Paulo, Brazil from 2002 to 2022. Data collected via chart review included clinical information on birth history, breast and pubic hair Tanner stages, presence of genital hypoplasia, age at menarche, regularity of menstrual cycles, body mass index (BMI) z-score, final height, age of initiation of estrogen replacement and growth hormone replacement, as well as results for PWS genetic subtype; biochemical investigation (LH, FSH, estradiol, DHEA-S); radiographic bone age and pelvic ultrasound. Results: A total of 69 girls were included in the study and the mean age of puberty onset was 10.2 years in those who started puberty after the age of 8 years. Breast Tanner stage IV was reached by 29.1% girls at a mean age of 14.9 years. Spontaneous menarche was present in 13.8% and only one patient had regular menstrual cycles. Early adrenarche was seen in 40.4% of cases. Conclusion: Our study demonstrated in a large sample that girls with PWS often present with delayed onset of puberty despite frequent premature adrenarche. Based on our results, we suggest an estrogen replacement protocol for girls with PWS to be started at the chronological age or bone age of 12-13 years, taking into consideration the uterus size. Further prospective studies are needed.

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BACKGROUND: Prader-Willi syndrome (PWS) is a genetic disorder characterized by abnormalities in the 15q11-q13 region. Understanding the correlation between genotype and phenotype in PWS is crucial for improved genetic counseling and prognosis. In this study, we aimed to investigate the correlation between genotype and phenotype in 45 PWS patients who previously underwent methylation-sensitive high-resolution melting (MS-HRM) for diagnosis. RESULTS: We employed methylation-specific multiplex ligation-dependent probe amplification (MS-MLPA) and Sanger sequencing, along with collecting phenotypic data from the patients for comparison. Among the 45 patients, 29 (64%) exhibited a deletion of 15q11-q13, while the remaining 16 (36%) had uniparental disomy. No statistically significant differences were found in the main signs and symptoms of PWS. However, three clinical features showed significant differences between the groups. Deletion patients had a higher prevalence of myopia than those with uniparental disomy, as well as obstructive sleep apnea and an unusual skill with puzzles. CONCLUSIONS: The diagnostic tests (MS-HRM, MS-MLPA, and Sanger sequencing) yielded positive results, supporting their applicability in PWS diagnosis. The study's findings indicate a general similarity in the genotype-phenotype correlation across genetic subtypes of PWS.

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BACKGROUND: Diagnosing imprinting defects in neonates and young children presents challenges, often necessitating molecular analysis for a conclusive diagnosis. The isolation of genetic material from oral swabs becomes crucial, especially in settings where blood sample collection is impractical or for vulnerable populations like newborns, who possess limited blood volumes and are often too fragile for invasive procedures. Oral swab samples emerge as an excellent source of DNA, effectively overcoming obstacles associated with rare diseases. METHODS: In our study, we specifically addressed the determination of the quality and quantity of DNA extracted from oral swab samples using NaCl procedures. RESULTS: We compared these results with extractions performed using a commercial kit. Subsequently, the obtained material underwent MS-HRM analysis for loci associated with imprinting diseases such as Prader-Willi and Angelman syndromes. CONCLUSIONS: Our study emphasizes the significance of oral swab samples as a reliable source for obtaining DNA for MS-HRM analysis. NaCl extraction stands out as a practical and cost-effective method for genetic studies, contributing to a molecular diagnosis that proves particularly beneficial for patients facing delays in characterization, ultimately influencing their treatment.

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INTRODUCTION: Obesity is highly prevalent in patients with Prader-Willi syndrome (PWS), particularly among adults. This condition, which can be morbid in many cases, is multifactorial and has a complex management. The purpose of our study was to describe the feasibility of achieving a better nutritional status, including normal weight in individuals diagnosed with PWS, through specific nutritional interventions within the framework of a transdisciplinary treatment and without resorting to pharmacological treatments or growth hormone (GH). METHODOLOGY: This observational study included patients with confirmed genetic diagnosis of PWS, receiving transdisciplinary treatment in a specialized rare diseases institution. Patients under treatment with GH and those under pharmacological treatment with nutritional objectives were excluded from the study. All patients attended our institution regularly on a weekly or fortnightly basis. Anthropometric records, including weight, height, and body mass index (BMI) were evaluated in each visit from treatment onset until the last check-up. RESULTS: We included 24 patients with confirmed genetic diagnosis of PWS. At baseline, 9 patients (38 %) had obesity grade III, 1 (4 %) of obesity grade II, 10 (42 %) of obesity grade I, 2 (8 %) of overweight, and 2 patients (8 %) with normal baseline weight. After a median duration of 52 months (interquartile range 23-116 months) of transdisciplinary nutritional treatment, we identified a significant reduction in BMI (baseline 40.2 ± 15.7 kg/m2 vs. follow-up 28.3 ± 6.7 kg/m2, p < 0.0001), without significant differences regarding height (baseline 1.45 ± 0.1 m vs. follow-up 1.48 ± 0.1 m, p = 0.09). CONCLUSION: In this study, we demonstrated that nutritional nonpharmacologic interventions immersed in a transdisciplinary treatment enabled a consistent and sustainable improvement in BMI and nutritional status among patients with PWS.

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INTRODUCTION: Caring for individuals with rare diseases can be challenging and represent a burden. Nevertheless, this has been scarcely explored in Prader-Willi syndrome (PWS). Therefore, we sought to explore the psychological impact of caregiving, as well as the differences between main caregivers and other family members. METHODS: Different evaluation tools and scales were used taking into consideration the impact on caregivers. The scales were administered to those relatives who are immersed in the usual dynamics of the patient, differentiating between the main caregiver and other relatives living in the family home. RESULTS: A total of 33 families of patients with genetic confirmation of PWS were included. In this survey, 32% of primary caregivers reported a high probability of anxiety, compared with 19% of non-primary caregivers (p = 0.27). Concerning depression, 40% of primary caregivers related possible or probable cases of depression compared with non-primary caregivers 13% (p = 0.04). Regarding caregiver burden evaluated using the Zarit scale, 61% of the main caregivers presented high levels of overload, compared with 29% of the other relatives (p = 0.005). Family functioning evaluated using the APGAR scale showed a total lower response from primary caregivers, but no statistically relevant results were found [25.4 ± 6.7 vs. 26.0 ± 8.2 (p = 0.72)]. CONCLUSION: In this study, we observed that caring for people with PWS can have a significant effect on the mental health, burden and quality of life of caregivers, with a greater impact among primary caregivers compared with the other living relatives.

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BACKGROUND: Obesity is a multifactorial chronic disease with a high, increasing worldwide prevalence. Genetic causes account for 7% of the cases in children with extreme obesity. DATA SOURCES: This narrative review was conducted by searching for papers published in the PubMed/MEDLINE, Embase and SciELO databases and included 161 articles. The search used the following search terms: "obesity", "obesity and genetics", "leptin", "Prader-Willi syndrome", and "melanocortins". The types of studies included were systematic reviews, clinical trials, prospective cohort studies, cross-sectional and prospective studies, narrative reviews, and case reports. RESULTS: The leptin-melanocortin pathway is primarily responsible for the regulation of appetite and body weight. However, several important aspects of the pathophysiology of obesity remain unknown. Genetic causes of obesity can be grouped into syndromic, monogenic, and polygenic causes and should be assessed in children with extreme obesity before the age of 5 years, hyperphagia, or a family history of extreme obesity. A microarray study, an analysis of the melanocortin type 4 receptor gene mutations and leptin levels should be performed for this purpose. There are three therapeutic levels: lifestyle modifications, pharmacological treatment, and bariatric surgery. CONCLUSIONS: Genetic study technologies are in constant development; however, we are still far from having a personalized approach to genetic causes of obesity. A significant proportion of the affected individuals are associated with genetic causes; however, there are still barriers to its approach, as it continues to be underdiagnosed. Video Abstract (MP4 1041807 KB).

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PURPOSE: Prader-Willi syndrome is a serious genetic condition, capable of causing endocrinological imbalance, which has as one of its main treatments the growth hormone therapy. However, this therapy still causes some uncertainty concerning its effects on the respiratory parameters of those patients, especially in cases of obstructive sleep apnea, therefore, presenting a need for the analysis of the relationship between the therapy and the otolaryngologic condition. METHODS: A systematic review following the PRISMA model was developed, with searches for keywords made in the databases PubMed (MEDLINE), Scopus, and Web of Science and registration in the PROSPERO platform (CRD42023404250). RESULTS: Three randomized controlled trials were considered eligible for inclusion in the review. None of the studies demonstrated statistically significant modifications in the obstructive sleep apnea parameters of Prader-Willi patients related to the growth hormone administration. CONCLUSIONS: Growth hormone therapy is safe for Prader-Willi syndrome patients when analyzing their obstructive sleep apnea parameters.

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BACKGROUND: Evaluating intelligence using conventional tools is very complex in patients with Prader-Willi Syndrome (PWS), as it is time consuming and requires levels of care that are difficult to sustain for this population. Therefore, we explore the ability of a brief test to assess intelligence in these patients. METHODS: This study included individuals with a genetically confirmed diagnosis of PWS, with regular attendance at transdisciplinary treatment in an institution dedicated to the care of rare diseases in Argentina. The Wechsler Intelligence Scale for Children (WISC-IV), the Wechsler Adult Intelligence Scale (WAIS-III) and the Kaufman Brief Intelligence Test (K-BIT) were used. RESULTS: Correlation was obtained between the scales in paediatric and adult populations. Within the paediatric population, no significant differences were identified between the WISC-IV scale (Wechsler for paediatrics) and the K-BIT (56.4 ± 8.6, vs. 53.4 ± 10.1, P = 0.28), with a good agreement between the methods {intraclass correlation 0.79 [95% confidence interval (CI) 0.15-0.95]}. Regarding the adult population, the discrimination of the WAIS-III scale (Wechsler for adults) and the K-BIT of adults (16 years and over) presented an acceptable concordance [0.77 (95% CI -0.09; 0.93)], although also underestimating the results (58.3 ± 7.2 vs. 51.1 ± 11.2, P < 0.0001). CONCLUSIONS: We observed the feasibility and potential usefulness of a brief intelligence test (K-BIT) in patients with PWS with an acceptable agreement with conventional tools.

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Pais e cuidadores de crianças com a síndrome Prader-Willi (SPW) enfrentam desafios no manejo dos comportamentos característicos do fenótipo comportamental dessa condição, que demandam habilidades parentais que nem sempre fazem parte do seu repertório, o que torna necessário um treino específico. O objetivo do presente estudo foi aplicar e avaliar o Programa de Qualidade na Interação Familiar (PQIF) para pais de crianças com SPW. Sete participantes associados ao ambulatório de SPW do Hospital das Clínicas de São Paulo (ICr-HCFMUSP) participaram do estudo, e medidas foram aplicadas nas fases pré, pós e follow-up. O escore de estilo parental demonstrou aumento no uso de práticas parentais positivas para seis dos sete participantes. Os participantes também apresentaram melhora na auto-observação, ampliação no repertório de análise de comportamentos e de manejo adequado. Limites deste estudo são discutidos, contudo, os dados reforçam a importância de se validar ferramentas que atendam essa população

Parents and relatives of children with Prader-Willi Syndrome (PWS) face challenges in managing behaviors characteristic of the behavioral pheno-type of this condition, which require specific parental skills, that are not always part of their repertoire, and therefore training. The aim of the present study was to apply and evaluate the Family Interaction Quality Program (PQIF) for parents of children with PWS. Seven participants associated to the PWS outpatient clinic of the ICr-HCFMUSP took apart in the study, and measures were applied in the pre, post and follow-up phases. The parenting style score demonstrated an increased use of positive parenting practices for six of the seven participants. Participants also showed improvements in self-observation, expansions in the repertoire of analysis of behaviors and appropriate handling. Limits of this study are discussed; however, the data reinforce the importance of validating tools that attend this population

Los padres y cuidadores de niños con Síndrome de Prader-Willi (SPW) enfrentan desafíos en el manejo de conductas difíciles, propias del fenotipo conductual de esta condición, que demandan habilidades parentales y capacitación específicas. El objetivo del presente estudio fue aplicar y evaluar el Programa de Calidad de Interacción Familiar (PQIF) para madres, padres y relatives de niños con SPW. En el estudio formaron parte siete participantes asociados a la clínica ambulatoria ICW-HCFMUSP SPW y se aplicaron instrumentos en las fases previa, posterior a la prueba y en la fase de seguimiento. El puntaje del estilo parental demostró un aumento en el uso de prácticas parentales positivas para seis de los siete participantes. Los participantes también mostraron una mejora en la autoobservación, una expansión en el análisis de la conducta y un repertorio de manejo apropiado. Se discuten los límites de este estudio, sin embargo, los datos refuerzan la importancia de validar las herramientas para esta población

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Prader-Willi syndrome (PWS) is a complex genetic disorder requiring interdisciplinary team monitoring and intensive care by parents. So far there is little information on people with PWS in Brazil. Our aim was to describe health problems and treatments used by people with PWS in Brazil and their relationship to their parents' quality of life. Parents answered questionnaires about their child's medical and exercise history, behavior problems, sociodemographic characteristics, and their own quality of life. Results: The responses of the participants showed similar health problems as in other countries. Anxiety and tantrums were the behavioral problems most commonly cited by parents. Parents of people with PWS had lower scores in respect of quality of life than the Brazilian population. Behavioral problems in individuals with PWS were negatively associated with their parents' quality of life. Behavioral and medical conditions in the children were associated with reduced quality of life in the parents. We conclude that heath care should not only be directed toward those with PWS, but also their parents.

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BACKGROUND: Obesity has become a major public health concern worldwide, with current behavioral, pharmacological, and surgical treatments offering varying rates of success and adverse effects. Neurosurgical approaches to treatment of refractory obesity include deep brain stimulation (DBS) on either specific hypothalamic or reward circuitry nuclei, which might contribute to weight reduction through different mechanisms. We aimed to determine the safety and clinical effect of DBS in medical refractory obesity. SUMMARY: Adhering to PRISMA guidelines, we performed a systematic review to identify all original studies - observational and experimental - in which DBS was performed to treat refractory obesity. From database inception to April 2021, we conducted our search in PubMed, Scopus, and LILACS databases using the following MeSH terms: "Obesity" OR "Prader-Willi Syndrome" AND "Deep Brain Stimulation." The main outcomes were safety and weight loss measured with the body mass index (BMI). The Grading of Recommendations Assessment, Development, and Evaluation methods were applied to evaluate the quality of evidence. This study protocol was registered with PROSPERO ID: CRD42019132929. Seven studies involving 12 patients met the inclusion criteria; the DBS target was the nucleus accumbens in four (57.1%), the lateral hypothalamic area in two (29.6%), and the ventral hypothalamus in one (14.3%). Further, 33% of participants had obesity secondary to Prader-Willi syndrome (PWS) and 66.6% had primary obesity. The global BMI average at baseline was 46.7 (SD: 9.6, range: 32.2-59.1), and after DBS, 42.8 (SD: 8.8, range: 25-53.9), with a mean difference of 3.9; however, the delta in PWS patients was -2.3 and 10 in those with primary obesity. The incidence of moderate side effects was 33% and included manic symptoms (N = 2), electrode fracture (N = 1), and seizure (N = 1); mild complications (41.6%) included skin infection (N = 2), difficulties falling asleep (N = 1), nausea (N = 1), and anxiety (N = 1). KEY MESSAGES: Despite available small case series and case reports reporting a benefit in the treatment of refractory obesity with DBS, this study emphasizes the need for prospective studies with longer follow-ups in order to further address the efficacy and indications.

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In this editorial the author presents a study, concerning Prader-Willi syndrome, which is paradigmatic for translational medicine, given that it creates a synergy between genetics and molecular biology, in order to improve the care for patients suffering from this syndrome.

En el presente editorial el autor expone un estudio, relacionado con el síndrome de Prader-Willi, que es paradigmático para la medicina traslacional, dado que crea una sinergia entre la genética y la biología molecular, a fin de mejorar la atención a los pacientes que padecen este síndrome.

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BACKGROUND: Prader Willi syndrome (PWS) and Angelman syndrome (AS) are neurodevelopmental disorders caused by deletions or methylation defects, making a loss of expression of imprinted genes located in the 15q11-q13 region, and these can be assessed by different cytogenomic and molecular techniques. We report a case series of patients with PWS and AS evaluated through the MS-MLPA assay. CLINICAL CASES: We studied four patients with a clinical diagnosis of PWS and another with AS, evaluated as far as possible with karyotype and FISH, and with MS-MLPA assay for the 15q11-q13 region in all cases. In patients with PWS, neonatal hypotonia was the main reason for consultation and in three of them we identified a deletion of 15q11-q13 by MS-MLPA, also confirmed by FISH; and in the other one, an abnormal methylation pattern consistent with a maternal uniparental disomy. The patient with AS presented with a typical picture which led to the identification of a deletion in 15q11-q13 by MS-MLPA, also confirmed by FISH. CONCLUSIONS: The use of the MS-MLPA assay for the 15q11-q13 region was very useful for the diagnosis and identification of the genomic and epigenetic defects involved in either PWS and AS.

INTRODUCCIÓN: el síndrome Prader-Willi (SPW) y el síndrome de Angelman (SA) son trastornos del neurodesarrollo producidos por deleciones o defectos de metilación que producen pérdida de expresión en los genes improntados de la región 15q11 q13, mismos que pueden ser evaluados por diferentes técnicas citogenómicas y moleculares. Presentamos una serie de pacientes con SPW y SA en los que se identificó el tipo de defecto de la región 15q11-q13 mediante la técnica de MS-MLPA. CASOS CLÍNICOS: estudiamos cuatro pacientes con diagnóstico clínico de SPW y uno con SA, evaluados en lo posible con cariotipo, FISH y todos con ensayo MS-MLPA para la región 15q11-q13. En los pacientes con SPW, la hipotonía neonatal fue el motivo principal de consulta. En tres de ellos se identificó deleción de 15q11-q13 por MS-MLPA, confirmada por FISH, y en uno el patrón de metilación anormal fue compatible con una disomía uniparental materna. El paciente con SA presentó un cuadró típico y también se identificó una deleción en 15q11-q13 por MS-MLPA, confirmada por FISH. CONCLUSIONES: confirmamos que el uso de la técnica de MS-MLPA para la región 15q11 q13 mostró ser de gran utilidad para identificar los mecanismos genómicos y epigenéticos implicados en el SPW y el SA.

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Cardiac death is the second most prevalent cause in Prader-Willi syndrome (PWS). Paediatric patients with PWS often present cardiac autonomic dysfunction during wakefulness, obesity and sleep-disordered breathing. However, the extent of cardiac autonomic modulation during sleep in PWS has not been documented. The objective of this study was to assess alterations in cardiac autonomic modulation of paediatric patients with PWS during different sleep stages. Thirty-nine participants in three groups: 14 PWS, 13 sex and age-matched lean controls (LG) and 12 obese-matched controls (OB). All participants underwent overnight polysomnography, including continuous electrocardiogram recordings. Heart rate variability (HRV) was analysed during representative periods of each sleep stage through time and frequency domains calculated across 5-min periods. Between-within ANOVAs were employed (p < .05). The results show that total HRV was lower in PWS than OB and LG during slow-wave sleep (SWS) (standard deviation of all NN intervals [SDNN] ms, p = .006). Parasympathetic modulation assessed by time-domain analysis was lower during SWS in PWS compared to both OB and LG (square root of the mean of the sum of the squares of differences between adjacent NN intervals [RMSSD] ms, p = .004; SDSD, standard deviation of differences between adjacent NN intervals [SDSD] ms, p = .02; number of adjacent NN intervals differing by >50 ms [NN50] ms, p = .03; proportion of adjacent NN intervals differing by >50 ms [pNN50] ms, p = .01). Sympathovagal balance assessed by frequency-domain analysis was lower during both N2 and SWS than during the rapid eye movement (REM) sleep stage, but not different among groups. In conclusion, this group of paediatric patients with PWS had impaired cardiac autonomic balance due to reduced parasympathetic modulation during SWS. This result could imply an underlying increased cardiovascular risk in PWS even during early age and independent of obesity.

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ABSTRACT Prader-Willi syndrome (PWS) is a genetic disorder caused by the absence of gene expression in the 15q11.2-q13 paternal chromosome. Patients with PWS develop hypothalamic dysfunction that can lead to various endocrine changes such as: obesity, growth hormone deficiency, hypogonadism, hypothyroidism, adrenal insufficiency and low bone mineral density. In addition, individuals with PWS have increased risk of developing type 2 diabetes mellitus. This review summarizes and updates the current knowledge about the prevention, diagnosis and treatment of endocrine manifestations associated with Prader Willi syndrome, especially diagnosis of growth hormone deficiency, management and monitoring of adverse effects; diagnosis of central adrenal insufficiency and management in stressful situations; screening for central hypothyroidism; research and treatment of hypogonadism; prevention and treatment of disorders of glucose metabolism. Careful attention to the endocrine aspects of PWS contributes significantly to the health of these individuals. Arch Endocrinol Metab. 2020;64(3):223-34

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Prader-Willi syndrome (PWS) is one of the common neurogenetic disorders associated with intellectual disability. PWS involves a complex inheritance pattern and is caused by an absence of gene expression on the paternally inherited 15q11.2-q13 region, either due to deletion, maternal uniparental disomy or imprinting defect. The syndrome is characterized principally by severe neonatal hypotonia, a weak suck in infancy that is later followed by hyperphagia and obesity, developmental delay, intellectual disability and short stature. In the case of the chromosome 15q26-qter deletion syndrome or Drayer's syndrome, very few reports have been published. Its characteristics include intrauterine growth restriction, postnatal growth failure, varying degrees of intellectual disability, developmental delay, typical facial appearance and diaphragmatic hernia. The present paper describes a female patient in whom clinical findings were suggestive of PWS and deletion in the 15q26-qter region. Both karyotyping and methylation-specific polymerase chain reaction were shown to be normal. Nevertheless, fluorescence in situ hybridization showed a 15qter deletion that was later mapped by single nucleotide polymorphism (SNP)-array. The deleted genomic region involves the insulin-like growth factor-1 receptor (IGF1R) gene, which is related to short stature, developmental delay and intellectual disability. This case had various clinical characteristics in common with the cases of 15q26-qter deletionand characteristics compatible with PWS.

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Background This study aimed to investigate the presence of sleep disturbances in children with Prader-Willi syndrome (PWS) using the Sleep Disturbance Scale for Children (SDSC). Methods The SDSC, which was designed to identify the presence and severity of different sleep disorders, was applied to 50 patients with PWS and 112 controls. Results Patients with PWS achieved worse scores in the sleep-disordered breathing and disorders in initiating and maintaining sleep in the SDSC questionnaire as compared with controls. We also observed that patients with PWS were more prone to having hyperhidrosis. We did not observe significant differences in the presence of other types of sleep disorders (such as hypersomnolence) between the PWS and control groups. Conclusions The results obtained with the SDSC questionnaire showed that children with PWS have more sleep breathing disorders and disorders in initiating and maintaining sleep as compared to controls. Additionally, we demonstrated that patients with PWS associates significantly with the presence of hyperhidrosis during sleep. However, SDSC was not reliable to identify the excessive daytime somnolence in patients with PWS, as previously reported in the literature.

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Cataplexy is a transient loss of muscle tone that can be triggered by emotions such as laughter, excitement or fear. Other causes of cataplexy include Niemann-Pick type C Disease, Angelman Syndrome, Norrie Disease, Prader-Willi Syndrome. In addition, cataplexy can be a side effect of several drugs (eg, lamotrigine, clozapine, and gamma-hydroxybutyrate). Yet, the most prevalent causes of cataplexy without narcolepsy are rare genetic diseases; which explains why cataplexy is classically linked to narcolepsy. Therefore, it is essential disconnecting cataplexy from narcolepsy especially in pediatric population and after use of a few medications. In this review, we described few conditions of cataplexy not related to narcolepsy. We performed a review of literature (MEDLINE and EMBASE database), without limited date or publication restrictions.

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Prader-Willi syndrome (PWS) is a rare complex multisystem disorder and presents several aspects related to dentistry. The purpose of this review is to present current perspectives about oral health in patients with PWS. Delay development, hyperphagia, foamy and highly viscous saliva raise the risk of caries and contribute to tooth wear. Cariogenic foods uncontrolled consumption allows to obesity and dental problems progress worsening systemic disorders. These factors can be controlled. The success in follow-ups with caries free and oral health controlled demonstrate the importance of multidisciplinary team intervention corroborated by support at home from birth to adulthood. Thereby, current perspective on the disease is that there is possibility of proper maintenance of oral health in PWS patients. Guided care interferes positively with the overall well-being and quality of life of the individual with PWS and their family. A multidisciplinary team with a focus on teaching patients and family members will help minimize eventual problems.