Related Experiment Video

Updated: May 31, 2025

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
00:06

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila

Published on: August 20, 2019

13.6K

A review of Prader-Willi syndrome

Seth Metzler1, Gina R Brown

  • 1Seth Metzler practices at Salina (Kans.) Family Healthcare Center. Gina R. Brown practices at Choice Medical Clinic in Wichita, Kans. The authors have disclosed no potential conflicts of interest, financial or otherwise.

JAAPA : Official Journal of the American Academy of Physician Assistants
|January 23, 2025
PubMed

Insights

Prader-Willi syndrome is a rare genetic disorder impacting multiple body systems. Early diagnosis and a comprehensive, multidisciplinary treatment approach are crucial for managing its complex medical and behavioral challenges.

Area of Science:

  • Genetics
  • Endocrinology
  • Neurology
  • Metabolic Disorders

Background:

  • Prader-Willi syndrome is a rare, complex genetic disorder.
  • It affects endocrine, metabolic, and neurologic systems.
  • Associated with numerous medical complications.

Purpose of the Study:

  • Highlight the importance of early identification and diagnosis.
  • Outline key treatment strategies for Prader-Willi syndrome.
  • Emphasize the necessity of a multidisciplinary approach.

Main Methods:

  • This study is a review of current knowledge on Prader-Willi syndrome.
  • It synthesizes information on diagnosis and management.
  • Focuses on a multidisciplinary care model.

Main Results:

  • Early diagnosis is critical for timely interventions.
  • Treatment involves neonatal support, hormonal therapy, and obesity management.
  • A comprehensive, multidisciplinary approach yields the best outcomes.

Conclusions:

  • Effective management of Prader-Willi syndrome requires early identification.
  • Treatment must be tailored to the individual's needs.
  • A coordinated, multidisciplinary team is essential for optimal patient care.

More Related Videos

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations08:22

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations

Published on: December 1, 2017

8.6K
Array Comparative Genomic Hybridization Array CGH for Detection of Genomic Copy Number Variants09:16

Array Comparative Genomic Hybridization Array CGH for Detection of Genomic Copy Number Variants

Published on: February 21, 2015

19.5K

Related Concept Videos

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...
33.2K
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,...
39.6K
Pedigree Analysis01:35

Pedigree Analysis

Overview
83.8K
Incomplete Dominance01:43

Incomplete Dominance

Gregor Mendel's work (1822 - 1884) was primarily focused on pea plants. Through his initial experiments, he determined that every gene in a diploid cell has two variants called alleles inherited from each parent. He suggested that amongst these two alleles, one allele is dominant in character and the other recessive. The combination of alleles determines the phenotype of a gene in an organism.
21.2K
Autism Spectrum Disorder01:19

Autism Spectrum Disorder

Autism spectrum disorder (ASD) is a neurodevelopmental condition marked by persistent deficits in social communication and interaction alongside restrictive and repetitive behaviors or interests. ASD is sometimes accompanied by intellectual impairment.
These core symptoms manifest differently among individuals, ranging from mild to severe. The disorder's complexity extends beyond its clinical presentation, encompassing a diverse range of biological, cognitive, and sociocultural influences.
57