Title:Prader-Willi Syndrome: Clinical Genetics and Diagnostic Aspects with Treatment Approaches
Volume: 12
Issue: 2
Author(s): Merlin G. Butler, Ann M. Manzardo and Janice L. Forster
Affiliation:
Keywords:
Diagnostic and treatment approaches, genetic testing, genetics clinical description of Prader-Willi syndrome, genomic
imprinting, medical management, obesity, Prader-Willi syndrome.
Abstract: Background: Prader-Willi syndrome (PWS) is a neuro-developmental genetic disorder due
to lack of expression of genes inherited from the paternal chromosome 15q11-q13 region with three
main genetic subtypes. These include paternal 15q11-q13 deletion (about 70% of cases), maternal
uniparental disomy 15 or both 15s from the mother (20-30% of cases), and defects in the imprinting
center (1-3%) which controls the expression of imprinted genes in this chromosome region. Clinical
manifestations include infantile hypotonia with a poor suck resulting in failure to thrive, short stature,
small hands/feet and hypogonadism/hypogenitalism due to growth and other hormone deficiencies,
hyperphagia and excessive weight gain with obesity and cognitive and behavioral problems including obsessive compulsions,
tantrums and self-injury. The phenotype is likely related to hypothalamic dysfunction.
Objective: Hyperphagia and obesity with related complications are major causes of morbidity and mortality in PWS requiring
accurate diagnosis, appropriate medical management and treatment; the major objective of our report.
Methods and Results: An extensive review of the literature was undertaken including genetics, clinical and behavioral aspects,
and updated health-related information addressing the importance of early diagnosis and treatment of individuals
with Prader-Willi syndrome. A searchable, bulleted and formatted list of topics related to this obesity syndrome was provided
utilizing a Table of Contents approach for the clinical practitioner.
Conclusions: Physicians and other health care providers can use this review with clinical, genetic and treatment summaries
divided into sections that are pertinent in the context of clinical practice. Finally, frequently asked questions by clinicians,
families and other interested participants will be addressed.
