Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Related Concept Videos

Probability Laws01:49

Probability Laws

Overview
Pleiotropy01:33

Pleiotropy

Pleiotropy is the phenomenon in which a single gene impacts multiple, seemingly unrelated phenotypic traits. For example, defects in the SOX10 gene cause Waardenburg Syndrome Type 4, or WS4, which can cause defects in pigmentation, hearing impairments, and an absence of intestinal contractions necessary for elimination. This diversity of phenotypes results from the expression pattern of SOX10 in early embryonic and fetal development. SOX10 is found in neural crest cells that form melanocytes,...
Genomic Imprinting and Inheritance02:30

Genomic Imprinting and Inheritance

Diploid organisms inherit genetic material through chromosomes from both parents. Copies of the same gene are known as alleles. In most cases, both alleles are simultaneously expressed and allow various cellular processes to function optimally. If one of the alleles is missing or mutated, the expression of the other allele can compensate; however, this is not true for all genes.
The expression of some genes depends on which parent passed the gene to the offspring, through a phenomenon known as...
Meiosis vs. Mitosis02:57

Meiosis vs. Mitosis

Cell division is necessary for growth and reproduction in organisms. Mitosis aids cell growth and development by dividing somatic cells. In contrast, meiosis causes the division of germ cells and plays an essential role in sexual reproduction. Due to their unique functional requirements, mitosis and meiosis differ from each other in multiple aspects.
Before the start of mitosis and meiosis I, the cell synthesizes DNA, resulting in two homologous copies of each chromosome. DNA synthesis is...
Actuarial Approach01:20

Actuarial Approach

The actuarial approach, a statistical method originally developed for life insurance risk assessment, is widely used to calculate survival rates in clinical and population studies. This method accounts for participants lost to follow-up or those who die from causes unrelated to the study, ensuring a more accurate representation of survival probabilities.
Consider the example of a high-risk surgical procedure with significant early-stage mortality. A two-year clinical study is conducted,...
Huntington Disease l: Introduction01:21

Huntington Disease l: Introduction

Huntington disease or HD is a progressive, fatal neurodegenerative disorder inherited in an autosomal dominant pattern.PathophysiologyIt is caused by expansion of the CAG trinucleotide repeat in the HTT gene on chromosome 4 (4p16.3), producing an abnormal huntingtin protein with an expanded polyglutamine tract. This misfolded protein disrupts cellular function, leading to neuronal death. Normal alleles have ≤26 repeats, 27–35 are intermediate (risk of expansion), 36–39 show reduced penetrance,...

You might also read

Related Articles

Articles linked to this work by shared authors, journal, and citation graph.

Sort by
Same author

Caregiver and Care Recipient Perspectives on Paediatric ED Mental Health Presentations: A Qualitative Study.

Emergency medicine Australasia : EMA·2026
Same author

Developing Scotch tape exfoliation methods for two-dimensional magnetic metal-organic frameworks.

Chemical communications (Cambridge, England)·2026
Same author

Psychological Distress Trajectories of Parents of Children With Developmental Disabilities Participating in a Parenting Intervention.

Journal of intellectual disability research : JIDR·2025
Same author

Schizotypal Traits in Children with Autism Spectrum Disorder and the Impact on Social, Emotional and Behavioral Functioning.

Brain sciences·2025
Same author

Paediatric Emergency Department Mental Health and Behavioural Presentations in Australia Before and After the Onset of the COVID-19 Pandemic: Retrospective Observational Study.

Journal of paediatrics and child health·2025
Same author

Childhood and Adulthood Predictors of Community Participation by Autistic Adults With and Without Intellectual Disability.

Journal of applied research in intellectual disabilities : JARID·2024

Related Experiment Video

Updated: Jul 25, 2026

Measurement of Lifespan in Drosophila melanogaster
10:00

Measurement of Lifespan in Drosophila melanogaster

Published on: January 7, 2013

Mortality in Prader-Willi syndrome.

Stewart L Einfeld1, Sophie J Kavanagh, Arabella Smith

  • 1University of New South Wales, Sydney, New South Wales. s.einfeld@unsw.edu.au

American Journal of Mental Retardation : AJMR
|April 7, 2006
PubMed
Summary

People with Prader-Willi syndrome face a significantly higher mortality risk compared to others with intellectual disability. Obesity and its complications are key factors contributing to this increased risk.

More Related Videos

Inverse Probability of Treatment Weighting (Propensity Score) using the Military Health System Data Repository and National Death Index
06:55

Inverse Probability of Treatment Weighting (Propensity Score) using the Military Health System Data Repository and National Death Index

Published on: January 8, 2020

Generation of Induced Pluripotent Stem Cells from Turner Syndrome (45XO) Fetal Cells for Downstream Modelling of Neurological Deficits Associated with the Syndrome
09:39

Generation of Induced Pluripotent Stem Cells from Turner Syndrome (45XO) Fetal Cells for Downstream Modelling of Neurological Deficits Associated with the Syndrome

Published on: December 4, 2021

Related Experiment Videos

Last Updated: Jul 25, 2026

Measurement of Lifespan in Drosophila melanogaster
10:00

Measurement of Lifespan in Drosophila melanogaster

Published on: January 7, 2013

Inverse Probability of Treatment Weighting (Propensity Score) using the Military Health System Data Repository and National Death Index
06:55

Inverse Probability of Treatment Weighting (Propensity Score) using the Military Health System Data Repository and National Death Index

Published on: January 8, 2020

Generation of Induced Pluripotent Stem Cells from Turner Syndrome (45XO) Fetal Cells for Downstream Modelling of Neurological Deficits Associated with the Syndrome
09:39

Generation of Induced Pluripotent Stem Cells from Turner Syndrome (45XO) Fetal Cells for Downstream Modelling of Neurological Deficits Associated with the Syndrome

Published on: December 4, 2021

Area of Science:

  • Medical research
  • Genetics
  • Public Health

Background:

  • Prader-Willi syndrome (PWS) is associated with a high mortality rate.
  • Intellectual disability (ID), common in PWS, also increases mortality risk.
  • Existing data lacks direct comparison of mortality between PWS and other ID populations.

Purpose of the Study:

  • To compare mortality rates in a PWS cohort with a control group of individuals with ID from other causes.
  • To identify specific factors contributing to mortality in PWS.

Main Methods:

  • Longitudinal cohort study design.
  • Comparison of death rates between PWS individuals and an epidemiologically derived control sample with ID.
  • Statistical analysis to determine hazard ratios, adjusting for intellectual function levels.

Main Results:

  • Individuals with PWS exhibited a higher mortality rate than the control group.
  • The hazard ratio for PWS versus controls was 6.07 after accounting for intellectual disability.
  • Obesity and its associated complications were identified as significant contributors to mortality in the PWS group.

Conclusions:

  • Prader-Willi syndrome confers a substantially elevated mortality risk independent of intellectual disability.
  • Obesity management is crucial for improving survival rates in individuals with PWS.