Prader-Willi syndrome (PWS) results from gene deletion or disruption on chromosome 15’s proximal arm or maternal disomy of the same region.
In 1887, Langdon Down identified Prader-Willi syndrome in a girl with mental impairment, obesity, and short stature.
In 1981, Ledbetter et al identified deletions at 15q11 to 15q13 for Prader-Willi syndrome. Affects body systems, causing physical, behavioural, and cognitive symptoms.
Paternal chromosome 15 deletion affects 70-75% cases. Maternal Uniparental Disomy (UPD) occurs when a child inherits two chromosome 15 copies maternally.
Genomic imprinting errors restrict paternal gene expression. Genetic testing for Prader-Willi syndrome involves chromosomal analysis and methylation pattern assessment.
Fasting serum IGF-1 and IGFBP-3 levels effectively screen for growth hormone deficiency. Refer patients with low growth velocity and abnormal IGF-1/IGFBP-3 to pediatric endocrinologist.
Epidemiology
Prader-Willi syndrome is mostly sporadic, with prevalence rates of 1 in 16,062 and 1 in 25,000.
Whittington et al estimate the actual prevalence rate in the UK to be 1 per 45,000, higher than the suggested 1 per 52,000.
Obesity and behavioural issues significantly increase morbidity and mortality risks.
The study indicates that Prader-Willi syndrome patients face increased cardiovascular disease risk early, independent of obesity effects.
Prevalence rate differences among racial groups are inconsistent; in Black patients, growth is less impacted, hand lengths normal, atypical facies.
Prader-Willi syndrome results from paternal copy loss on chromosome 15p11-13, with no reported prevalence differences between sexes.
Anatomy
Pathophysiology
Disorders show differential gene expression by parent origin, with an imprinting center at 15q11-13 regulating it through DNA methylation.
Prader-Willi syndrome arises from loss of paternal genomic material. Monozygotic twins share Prader-Willi syndrome linked to chromosome 15 deletion 15q11-13.
Under 1% of patients have imprinting center mutations risking recurrence. Goldstone et al found residual 1.3-1.6-fold fasting and 1.2-1.5-fold postprandial ghrelin elevation post hypoinsulinemia correction.
Prader-Willi syndrome individuals exhibit reduced mitochondrial function and significant differences in respiratory capacities.
Etiology
The causes of Prader-Willi Syndrome are:
Paternal Deletion
Maternal Uniparental Disomy
Imprinting Defects
Prader-Willi Syndrome is a genetic disorder from gene loss on paternal chromosome 15.
PWS is caused by genomic imprinting errors, leading to the absence of paternal chromosome gene expression.
Genetics
Prognostic Factors
Early growth hormone therapy improves muscle tone, development, and metabolism.
Early dietary management prevents severe obesity and reduces mortality risk.
Healthy weight correlates with longevity and improved quality of life.
Hypogonadism causes delayed puberty, infertility; hormone therapy improves health and well-being.
Higher cognitive function leads to better long-term outcomes.
Early sleep apnea diagnosis and CPAP therapy enhance sleep and lower risks.
Clinical History
Patient history of PWS features neonatal hypotonia and childhood obesity phases to understand clinical history of patients including:
Hughes et al study shows 24-hour professional support aids Prader-Willi syndrome individuals in weight reduction and behaviour improvement.
Investigators found that patients with more frequent social contact with family and friends improved more even with 24-hour care.
FDA approved growth hormone for children with genetically confirmed Prader-Willi syndrome and growth failure.
Bakker et al study shows growth hormone therapy enhances health-related quality of life in Prader-Willi syndrome children over 11 years.
Infants and toddlers with Prader-Willi syndrome showed improved mental and motor development after 3 years of growth hormone therapy, especially if treated younger with lower baseline development.
Investigators using the Bayley Scales of Infant Development II found mental development increased from 58.1% to 79.6% and motor development rose from 41.9% to 78.2% over 3 years.
Low-dose growth hormone treatment in infants with Prader-Willi syndrome shows similar growth effects as higher doses.
IGF levels increased with lower-dose therapy, indicating reduced long-term treatment risks without excessive rise.
Patients with Prader-Willi syndrome may need surgery for obesity, cryptorchidism, sleep apnea, and scoliosis complications.
Urgent surgery may be required for abdominal issues due to high pain tolerance and delayed symptoms of cholecystitis, appendicitis, or gastric dilation.
Biliopancreatic diversion and gastric bypass surgeries fail for long-term weight loss, causing bile acid circulation disruption, fat-soluble vitamin deficiencies, and steatorrhea with anal pruritus.
In neonatal phase (Birth – 2 Years) including early diagnosis and feeding support the goals is to address hypotonia and feeding difficulties.
In childhood phase (2–12 Years) including hyperphagia prevention and behavioral support the goals are to prevent obesity and metabolic complications.
In adolescence phase (12–18 Years) including obesity prevention and independence skills the goal is to manage hyperphagia, obesity risk and address pubertal & endocrine changes.
The regular follow-up visits with the physician are scheduled to check the improvement of patients along with treatment response.
Administer maximum dose of 5.8 mg/kg daily or 525 mg daily
For 40 to <65 kg:
Weeks 1-2: Take a dose of 75 mg orally daily
Weeks 3-4: Take a dose of 150 mg orally daily
Weeks 5-6: Take a dose of 225 mg orally daily
For 65 to <100 kg:
Weeks 1-2: Take a dose of 150 mg orally daily
Weeks 3-4: Take a dose of 225 mg orally daily
Weeks 5-6: Take a dose of 300 mg orally daily
For 100 to <135 kg:
Weeks 1-2: Take a dose of 150 mg orally daily
Weeks 3-4: Take a dose of 300 mg orally daily
Weeks 5-6: Take a dose of 375 mg orally daily
For ≥135 kg:
Weeks 1-2: Take a dose of 150 mg orally daily
Weeks 3-4: Take a dose of 300 mg orally daily
Weeks 5-6: Take a dose of 455 mg orally daily
Dosage Modifications
Renal or hepatic impairment
Not studied
Coadministration with strong CYP1A2 inhibitors
Administer maximum dose of 3.6 mg/kg daily or 325 mg/daily
Dosing Considerations
Do not replace diazoxide choline with oral suspension.
Laboratory testing before initiation
Test glucose levels and optimize blood sugar in hyperglycemia.
Administer maximum dose of 5.8 mg/kg daily or 525 mg daily
For 20 to <30 kg:
Weeks 1-2: Take a dose of 25 mg orally daily
Weeks 3-4: Take a dose of 50 mg orally daily
Weeks 5-6: Take a dose of 75 mg orally daily
For 30 to <40 kg:
Weeks 1-2: Take a dose of 75 mg orally daily
Weeks 3-6: Take a dose of 100 mg orally daily
For 40 to <65 kg:
Weeks 1-2: Take a dose of 75 mg orally daily
Weeks 3-4: Take a dose of 150 mg orally daily
Weeks 5-6: Take a dose of 225 mg orally daily Dosage Modifications
Renal or hepatic impairment
Not studied Coadministration with strong CYP1A2 inhibitors
Administer maximum dose of 3.6 mg/kg daily or 325 mg/daily Dosing Considerations
Do not replace diazoxide choline with oral suspension.
Laboratory testing before initiation
Test glucose levels and optimize blood sugar in hyperglycemia.
Prader-Willi syndrome (PWS) results from gene deletion or disruption on chromosome 15’s proximal arm or maternal disomy of the same region.
In 1887, Langdon Down identified Prader-Willi syndrome in a girl with mental impairment, obesity, and short stature.
In 1981, Ledbetter et al identified deletions at 15q11 to 15q13 for Prader-Willi syndrome. Affects body systems, causing physical, behavioural, and cognitive symptoms.
Paternal chromosome 15 deletion affects 70-75% cases. Maternal Uniparental Disomy (UPD) occurs when a child inherits two chromosome 15 copies maternally.
Genomic imprinting errors restrict paternal gene expression. Genetic testing for Prader-Willi syndrome involves chromosomal analysis and methylation pattern assessment.
Fasting serum IGF-1 and IGFBP-3 levels effectively screen for growth hormone deficiency. Refer patients with low growth velocity and abnormal IGF-1/IGFBP-3 to pediatric endocrinologist.
Prader-Willi syndrome is mostly sporadic, with prevalence rates of 1 in 16,062 and 1 in 25,000.
Whittington et al estimate the actual prevalence rate in the UK to be 1 per 45,000, higher than the suggested 1 per 52,000.
Obesity and behavioural issues significantly increase morbidity and mortality risks.
The study indicates that Prader-Willi syndrome patients face increased cardiovascular disease risk early, independent of obesity effects.
Prevalence rate differences among racial groups are inconsistent; in Black patients, growth is less impacted, hand lengths normal, atypical facies.
Prader-Willi syndrome results from paternal copy loss on chromosome 15p11-13, with no reported prevalence differences between sexes.
Disorders show differential gene expression by parent origin, with an imprinting center at 15q11-13 regulating it through DNA methylation.
Prader-Willi syndrome arises from loss of paternal genomic material. Monozygotic twins share Prader-Willi syndrome linked to chromosome 15 deletion 15q11-13.
Under 1% of patients have imprinting center mutations risking recurrence. Goldstone et al found residual 1.3-1.6-fold fasting and 1.2-1.5-fold postprandial ghrelin elevation post hypoinsulinemia correction.
Prader-Willi syndrome individuals exhibit reduced mitochondrial function and significant differences in respiratory capacities.
The causes of Prader-Willi Syndrome are:
Paternal Deletion
Maternal Uniparental Disomy
Imprinting Defects
Prader-Willi Syndrome is a genetic disorder from gene loss on paternal chromosome 15.
PWS is caused by genomic imprinting errors, leading to the absence of paternal chromosome gene expression.
Early growth hormone therapy improves muscle tone, development, and metabolism.
Early dietary management prevents severe obesity and reduces mortality risk.
Healthy weight correlates with longevity and improved quality of life.
Hypogonadism causes delayed puberty, infertility; hormone therapy improves health and well-being.
Higher cognitive function leads to better long-term outcomes.
Early sleep apnea diagnosis and CPAP therapy enhance sleep and lower risks.
Patient history of PWS features neonatal hypotonia and childhood obesity phases to understand clinical history of patients including:
Hughes et al study shows 24-hour professional support aids Prader-Willi syndrome individuals in weight reduction and behaviour improvement.
Investigators found that patients with more frequent social contact with family and friends improved more even with 24-hour care.
FDA approved growth hormone for children with genetically confirmed Prader-Willi syndrome and growth failure.
Bakker et al study shows growth hormone therapy enhances health-related quality of life in Prader-Willi syndrome children over 11 years.
Infants and toddlers with Prader-Willi syndrome showed improved mental and motor development after 3 years of growth hormone therapy, especially if treated younger with lower baseline development.
Investigators using the Bayley Scales of Infant Development II found mental development increased from 58.1% to 79.6% and motor development rose from 41.9% to 78.2% over 3 years.
Low-dose growth hormone treatment in infants with Prader-Willi syndrome shows similar growth effects as higher doses.
IGF levels increased with lower-dose therapy, indicating reduced long-term treatment risks without excessive rise.
Pediatrics, General
Lock food storage, use portion-controlled meals, avoid buffets for binge prevention.
Hide high-calorie foods and label meals to reduce anxiety and establish eating routine.
Create a calm, low-stimulation environment to reduce anxiety and meltdowns.
Implement IEPs for cognitive delays and provide movement breaks to enhance focus.
Take frequent breaks and structured transitions to focus and reduce anxiety.
Proper awareness about PWS should be provided and its related causes with management strategies.
Appointments with physician and preventing recurrence of disorder is an ongoing life-long effort.
Pediatrics, General
Human growth hormone:
These agents improve symptoms of growth hormone deficiency. It stimulates bone, muscle growth, organ function, and erythropoietin.
Growth hormone therapy enhances lean body mass, corrects osteopenia, does not worsen scoliosis, and may influence behaviour in some patients.
Pediatrics, General
Patients with Prader-Willi syndrome may need surgery for obesity, cryptorchidism, sleep apnea, and scoliosis complications.
Urgent surgery may be required for abdominal issues due to high pain tolerance and delayed symptoms of cholecystitis, appendicitis, or gastric dilation.
Biliopancreatic diversion and gastric bypass surgeries fail for long-term weight loss, causing bile acid circulation disruption, fat-soluble vitamin deficiencies, and steatorrhea with anal pruritus.
Pediatrics, General
In neonatal phase (Birth – 2 Years) including early diagnosis and feeding support the goals is to address hypotonia and feeding difficulties.
In childhood phase (2–12 Years) including hyperphagia prevention and behavioral support the goals are to prevent obesity and metabolic complications.
In adolescence phase (12–18 Years) including obesity prevention and independence skills the goal is to manage hyperphagia, obesity risk and address pubertal & endocrine changes.
The regular follow-up visits with the physician are scheduled to check the improvement of patients along with treatment response.
Prader-Willi syndrome (PWS) results from gene deletion or disruption on chromosome 15’s proximal arm or maternal disomy of the same region.
In 1887, Langdon Down identified Prader-Willi syndrome in a girl with mental impairment, obesity, and short stature.
In 1981, Ledbetter et al identified deletions at 15q11 to 15q13 for Prader-Willi syndrome. Affects body systems, causing physical, behavioural, and cognitive symptoms.
Paternal chromosome 15 deletion affects 70-75% cases. Maternal Uniparental Disomy (UPD) occurs when a child inherits two chromosome 15 copies maternally.
Genomic imprinting errors restrict paternal gene expression. Genetic testing for Prader-Willi syndrome involves chromosomal analysis and methylation pattern assessment.
Fasting serum IGF-1 and IGFBP-3 levels effectively screen for growth hormone deficiency. Refer patients with low growth velocity and abnormal IGF-1/IGFBP-3 to pediatric endocrinologist.
Prader-Willi syndrome is mostly sporadic, with prevalence rates of 1 in 16,062 and 1 in 25,000.
Whittington et al estimate the actual prevalence rate in the UK to be 1 per 45,000, higher than the suggested 1 per 52,000.
Obesity and behavioural issues significantly increase morbidity and mortality risks.
The study indicates that Prader-Willi syndrome patients face increased cardiovascular disease risk early, independent of obesity effects.
Prevalence rate differences among racial groups are inconsistent; in Black patients, growth is less impacted, hand lengths normal, atypical facies.
Prader-Willi syndrome results from paternal copy loss on chromosome 15p11-13, with no reported prevalence differences between sexes.
Disorders show differential gene expression by parent origin, with an imprinting center at 15q11-13 regulating it through DNA methylation.
Prader-Willi syndrome arises from loss of paternal genomic material. Monozygotic twins share Prader-Willi syndrome linked to chromosome 15 deletion 15q11-13.
Under 1% of patients have imprinting center mutations risking recurrence. Goldstone et al found residual 1.3-1.6-fold fasting and 1.2-1.5-fold postprandial ghrelin elevation post hypoinsulinemia correction.
Prader-Willi syndrome individuals exhibit reduced mitochondrial function and significant differences in respiratory capacities.
The causes of Prader-Willi Syndrome are:
Paternal Deletion
Maternal Uniparental Disomy
Imprinting Defects
Prader-Willi Syndrome is a genetic disorder from gene loss on paternal chromosome 15.
PWS is caused by genomic imprinting errors, leading to the absence of paternal chromosome gene expression.
Early growth hormone therapy improves muscle tone, development, and metabolism.
Early dietary management prevents severe obesity and reduces mortality risk.
Healthy weight correlates with longevity and improved quality of life.
Hypogonadism causes delayed puberty, infertility; hormone therapy improves health and well-being.
Higher cognitive function leads to better long-term outcomes.
Early sleep apnea diagnosis and CPAP therapy enhance sleep and lower risks.
Patient history of PWS features neonatal hypotonia and childhood obesity phases to understand clinical history of patients including:
Hughes et al study shows 24-hour professional support aids Prader-Willi syndrome individuals in weight reduction and behaviour improvement.
Investigators found that patients with more frequent social contact with family and friends improved more even with 24-hour care.
FDA approved growth hormone for children with genetically confirmed Prader-Willi syndrome and growth failure.
Bakker et al study shows growth hormone therapy enhances health-related quality of life in Prader-Willi syndrome children over 11 years.
Infants and toddlers with Prader-Willi syndrome showed improved mental and motor development after 3 years of growth hormone therapy, especially if treated younger with lower baseline development.
Investigators using the Bayley Scales of Infant Development II found mental development increased from 58.1% to 79.6% and motor development rose from 41.9% to 78.2% over 3 years.
Low-dose growth hormone treatment in infants with Prader-Willi syndrome shows similar growth effects as higher doses.
IGF levels increased with lower-dose therapy, indicating reduced long-term treatment risks without excessive rise.
Pediatrics, General
Lock food storage, use portion-controlled meals, avoid buffets for binge prevention.
Hide high-calorie foods and label meals to reduce anxiety and establish eating routine.
Create a calm, low-stimulation environment to reduce anxiety and meltdowns.
Implement IEPs for cognitive delays and provide movement breaks to enhance focus.
Take frequent breaks and structured transitions to focus and reduce anxiety.
Proper awareness about PWS should be provided and its related causes with management strategies.
Appointments with physician and preventing recurrence of disorder is an ongoing life-long effort.
Pediatrics, General
Human growth hormone:
These agents improve symptoms of growth hormone deficiency. It stimulates bone, muscle growth, organ function, and erythropoietin.
Growth hormone therapy enhances lean body mass, corrects osteopenia, does not worsen scoliosis, and may influence behaviour in some patients.
Pediatrics, General
Patients with Prader-Willi syndrome may need surgery for obesity, cryptorchidism, sleep apnea, and scoliosis complications.
Urgent surgery may be required for abdominal issues due to high pain tolerance and delayed symptoms of cholecystitis, appendicitis, or gastric dilation.
Biliopancreatic diversion and gastric bypass surgeries fail for long-term weight loss, causing bile acid circulation disruption, fat-soluble vitamin deficiencies, and steatorrhea with anal pruritus.
Pediatrics, General
In neonatal phase (Birth – 2 Years) including early diagnosis and feeding support the goals is to address hypotonia and feeding difficulties.
In childhood phase (2–12 Years) including hyperphagia prevention and behavioral support the goals are to prevent obesity and metabolic complications.
In adolescence phase (12–18 Years) including obesity prevention and independence skills the goal is to manage hyperphagia, obesity risk and address pubertal & endocrine changes.
The regular follow-up visits with the physician are scheduled to check the improvement of patients along with treatment response.
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