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Genes Feb 2020Prader-Willi syndrome (PWS) is recognized as the first example of genomic imprinting, generally due to a de novo paternal 15q11-q13 deletion. PWS is considered the most... (Review)
Review
Prader-Willi syndrome (PWS) is recognized as the first example of genomic imprinting, generally due to a de novo paternal 15q11-q13 deletion. PWS is considered the most common genetic cause of marked obesity in humans. Scoliosis, kyphosis, and kyphoscoliosis are commonly seen in children and adolescents with PWS with a prevalence of spinal deformities cited between 15% to 86%. Childhood risk is 70% or higher, until skeletal maturity, with a bimodal age distribution with one peak before 4 years of age and the other nearing adolescence. As few reports are available on treating scoliosis in PWS, we described clinical observations, risk factors, therapeutic approaches and opinions regarding orthopedic care based on 20 years of clinical experience. Treatments include diligent radiographic screening, starting once a child can sit independently, ongoing physical therapy, and options for spine casting, bracing and surgery, depending on the size of the curve, and the child's age. Similarly, there are different surgical choices including a spinal fusion at or near skeletal maturity, versus a construct that allows continued growth while controlling the curve for younger patients. A clear understanding of the risks involved in surgically treating children with PWS is important and will be discussed.
Topics: Adolescent; Child; Chromosome Deletion; Chromosomes, Human, Pair 15; Genomic Imprinting; Humans; Kyphosis; Prader-Willi Syndrome; Risk Factors; Scoliosis; Spinal Fusion
PubMed: 32121146
DOI: 10.3390/genes11030260 -
Revista Medica Del Instituto Mexicano... Jun 2021In this editorial the author presents a study, concerning Prader-Willi syndrome, which is paradigmatic for translational medicine, given that it creates a synergy...
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.
Topics: Angelman Syndrome; Epigenesis, Genetic; Humans; Prader-Willi Syndrome; Translational Research, Biomedical
PubMed: 34231979
DOI: No ID Found -
Indian Journal of Pediatrics Jun 2020
Topics: Arachnodactyly; Craniosynostoses; DiGeorge Syndrome; Humans; Marfan Syndrome; Prader-Willi Syndrome
PubMed: 31863392
DOI: 10.1007/s12098-019-03137-6 -
Medecine Sciences : M/S Oct 2015Prader-Willi syndrome is a neurodevelopmental disorder caused by the lack of expression of imprinted genes of the chromosomal region 15q11-q12. Diagnosis can now be made... (Review)
Review
Prader-Willi syndrome is a neurodevelopmental disorder caused by the lack of expression of imprinted genes of the chromosomal region 15q11-q12. Diagnosis can now be made in the first months of life, allowing a precise description of the natural history of the disease. Of interest, nutritional phases appear to be more complex than those initially reported, starting with a severe hypotonia with deficit of suckling and failure to thrive in neonates, and subsequently switching to excessive weight gain with morbid obesity due to hyperphagia and deficit of satiety. The phenotype also includes endocrine dysfunction, intellectual disability, learning deficits, behavioural troubles with impaired social skills and psychiatric features. Multidisciplinary care has been strongly improved by the rare disease programme launched in France in 2004 and the Obesity programme in 2011 in link with the patient association. New therapeutic perspectives have arisen from knowledge of the pathophysiology of PWS.
Topics: Diagnosis, Differential; Disease Progression; France; Genetic Testing; Humans; Hypogonadism; Mental Disorders; Phenotype; Prader-Willi Syndrome
PubMed: 26481024
DOI: 10.1051/medsci/20153110011 -
BMC Pediatrics Aug 2023Prader-Willi syndrome (PWS) is a genetic disorder involving multiple systems, with an incidence of about 1/10000-25000. Ovarian torsion (OT) is not commonly found in...
BACKGROUND
Prader-Willi syndrome (PWS) is a genetic disorder involving multiple systems, with an incidence of about 1/10000-25000. Ovarian torsion (OT) is not commonly found in children. Ovarian cyst acts as one of the primary factors resulting in OT. While ovarian cyst torsion with Prader-Willi Syndrome has not been reported before.
CASE PRESENTATION
A 12-years old female was admitted to Emergency Department of our hospital with the chief complaint of abdominal pain. The outcomes of physical examination revealed the height of 150 cm, weight of 103 kg, BMI of 45.77 kg/m. The patient manifested the special facial features, an obese body, with the abdomen distended into a spherical shape. The fat accumulation in the abdomen significantly embarrassed the palpation. The abdominal CT scan indicated a huge cystic mass in the abdominal cavity, sized about 138 mm × 118 mm. According to medical history, the patient was born with low crying and hypotonia, who has developed the uncontrollable eating behavior since 3-years old. These abnormalities led to a speculation of PWS syndrome, so a genetic test was performed and finally confirmed it, concluding a torsion of ovarian cyst with PWS. With the multidisciplinary consultation, a careful treatment strategy containing the control of blood pressure and blood sugar, coenzyme Q10 was administrated to nourish the myocardium and the application of Growth Hormone was developed. All the above preoperative treatments have brought great benefits to patients. Thus promising the successful completion of operation. The postoperative follow-up till now indicated that the abdominal incision was well healed, without operative complications.
CONCLUSIONS
This may be the first case report. In the treatment of ovarian cyst torsion, PWS syndrome requires fully consideration, as the latter can lead to multisystem abnormalities, especially the relation to perioperative management, and even fatalities. Genetic testing should be conducted early when PWS was suspected, accompanied with adequate preparation for the perioperative period, the follow-ups of patients should be maintained for a long time after surgery.
Topics: Humans; Female; Child; Ovarian Cysts; Prader-Willi Syndrome; Abdominal Pain; Muscle Hypotonia; Obesity; Human Growth Hormone
PubMed: 37553631
DOI: 10.1186/s12887-023-04223-7 -
BMC Psychiatry Sep 2021Prader-Willi syndrome (PWS) is a rare, genetic, neurodevelopmental syndrome associated with hyperphagia and early onset obesity, growth and sex hormone insufficiencies,... (Review)
Review
INTRODUCTION
Prader-Willi syndrome (PWS) is a rare, genetic, neurodevelopmental syndrome associated with hyperphagia and early onset obesity, growth and sex hormone insufficiencies, mild-to-moderate intellectual disability, and behavioral challenges such as compulsivity, anxiety, skin picking, social skills deficits and temper outbursts. Given high rates of psychiatric comorbidity and potential risk factors for suicide in PWS, this study sought a first estimate of the prevalence of suicidal ideation (SI) and attempts (SA) in the PWS population and any characteristics associated with suicidality in this population.
METHODS
Using the Global Prader-Willi Syndrome Registry, we included all participants who had answered a question about SI. We examined the most recent data from the surveys about social, economic, and demographic factors, genetic subtype, and psychiatric symptoms and treatments. A chi-square analysis was used to compare registry participants who reported SI to those without reported SI.
RESULTS
From 750 included survey respondents, 94 (12.5%) endorsed some history of SI. Of these, 25 (26.6%) also reported a history of SA, with an average age of 16.25 years at their first attempt. Those with a history of SI were predominantly male and adult age, and had higher rates of aggression and psychiatric comorbidities, therapies, and medications.
CONCLUSIONS
This study indicates that the rate of SI and SA in PWS is comparable to the general population, and that suicide attempts in PWS typically begin in middle-teenage years. Despite unique challenges, individuals with PWS and their caregivers should be included in screens and psychoeducation for suicide and mental health concerns.
Topics: Adolescent; Adult; Anxiety; Humans; Male; Prader-Willi Syndrome; Registries; Suicide; Surveys and Questionnaires
PubMed: 34488710
DOI: 10.1186/s12888-021-03436-3 -
EBioMedicine Apr 2022Prader-Willi syndrome arises as a consequence of absent paternal copies of maternally imprinted genes at 15q11-13. Such gender-of-origin imprinted genes are expressed in... (Review)
Review
Prader-Willi syndrome arises as a consequence of absent paternal copies of maternally imprinted genes at 15q11-13. Such gender-of-origin imprinted genes are expressed in the brain and also in mammalian placenta where paternally expressed imprinted genes drive foetal nutritional demand. We hypothesise that the PWS phenotype is the result of the genotype impacting two pathways: first, directly on brain development and secondly, on placental nutritional pathways that results in its down-regulation and relative foetal starvation. The early PWS phenotype establishes the basis for the later characteristic phenotype. Hyperphagia. and other phenotypic characteristics arise as a consequence of impaired hypothalamic development. Hypothalamic feeding pathways become set in a state indicative of starvation, with a high satiety threshold and a dysfunctional neurophysiological state due to incorrect representations of reward needs, based on inputs that indicate a false requirement for food. Our hypotheses, if confirmed, would lead to novel and effective interventions.
Topics: Animals; Brain; Female; Genotype; Humans; Mammals; Phenotype; Placenta; Prader-Willi Syndrome; Pregnancy
PubMed: 35316681
DOI: 10.1016/j.ebiom.2022.103952 -
Missouri Medicine 2024Prader-Willi syndrome (PWS) is a complex genetic neurodevelopmental disorder with multisystem impact and a unique behavior profile that evolves over the life span.... (Review)
Review
Prader-Willi syndrome (PWS) is a complex genetic neurodevelopmental disorder with multisystem impact and a unique behavior profile that evolves over the life span. Beyond the primary care needs of all children and adults, the unique medical concerns and management needs of those with PWS are best served in a multidisciplinary academic center. Our PWS center has provided care for individuals with PWS and their families since 1981. Our growth hormone studies contributed to growth hormone supplementation becoming standard of care in this country. Here, in collaboration with the primary care provider, early childhood intervention programs, schools and local parent organizations, solid, patient-centered care for affected individuals and their families can be provided across the life-span. The purpose of this article is to provide a brief overview of PWS and the attendant medical and behavior management challenges attendant to the disorder.
Topics: Prader-Willi Syndrome; Humans; Child; Human Growth Hormone
PubMed: 38854617
DOI: No ID Found -
Handbook of Clinical Neurology 2021Either physical damage or being born with a specific genetic abnormality can impact on the functioning of the hypothalamus, resulting in diverse physical manifestations... (Review)
Review
Either physical damage or being born with a specific genetic abnormality can impact on the functioning of the hypothalamus, resulting in diverse physical manifestations and/or specific behavior disorders. The impact of physical damage due to craniopharyngioma (CP) and/or surgery to remove a craniopharyngioma is compared and contrasted with the impact resulting from the genetic abnormalities associated with Prader-Willi syndrome (PWS). Similarities between PWS and CP posttreatment include hyperphagia and weight gain, low growth hormone levels, low bone density in adults, hypogonadism, disturbed temperature regulation, disturbed sleep and daytime sleepiness, memory difficulties, and problems with behavior and with peer relationships. These disturbances are an indication of the hypothalamus's central role in homeostasis. Most of the abnormalities appear to be more severe postoperatively in people with CP. Differences include higher ghrelin levels in PWS, complete absence of pituitary hormones in many cases of CP, higher incidence of thyroid dysfunction in CP, "growth without growth hormone" in obese children with CP, different types of diabetes (diabetes insipidus in CP and diabetes mellitus in PWS), and evidence of developmental delay and low IQ in people with PWS.
Topics: Adult; Child; Craniopharyngioma; Humans; Hyperphagia; Hypothalamus; Pituitary Neoplasms; Prader-Willi Syndrome
PubMed: 34238472
DOI: 10.1016/B978-0-12-820683-6.00028-2 -
Revista Paulista de Pediatria : Orgao... 2018To carry out a review about Prader-Willi Syndrome based on the most recent data about the subject and to give recommendation for the general pediatricians for early... (Review)
Review
OBJECTIVE
To carry out a review about Prader-Willi Syndrome based on the most recent data about the subject and to give recommendation for the general pediatricians for early diagnoses and follow-up.
DATA SOURCES
Scientific articles in the PubMed and SciELO databases. The research was not limited to a specific time period and included all articles in such databases.
DATA SYNTHESIS
The Prader-Willi Syndrome (PWS) is a rare genetic disorder resulting from the loss of imprinted gene expression within the paternal chromosome 15q11-q13. PWS is characterized by endocrine abnormalities, such as growth hormone (GH) deficiency, obesity, central adrenal insufficiency, hypothyroidism, hypogonadism and complex behavioral and intellectual difficulties. PWS individuals also may present other comorbidities, such as sleep disorders, scoliosis, constipation, dental issues and coagulation disorders. The follow-up protocol of the Children's Institute at Universidade de São Paulo is based on four main pillars: diet, exercise, recombinant human growth hormone (rhGH) therapy and behavioral and cognitive issues. The diet must include a caloric restriction of 900 kcal/day, according to the Prader-Willi Eating Pyramid and exercise plan is focused on daily aerobic exercises and postural therapy. The rhGH therapy is highly recommended by the international scientific literature and must be started as soon as the diagnostic is made. The management of behavioral issues is based on strategies to establish routine and rules.
CONCLUSIONS
If the general pediatrician becomes more familiar with PWS, the diagnosis and treatment will start earlier, which is essential to improve the quality of life and care for these individuals.
Topics: Humans; Pediatrics; Practice Guidelines as Topic; Prader-Willi Syndrome
PubMed: 30365815
DOI: 10.1590/1984-0462/;2018;36;3;00003