Home > Diagnoses & Conditions > Prader-Willi Syndrome > Ongoing Assessment
Prader-Willi Syndrome - Ongoing Assessment
Overview
Every child with Prader-Willi syndrome (PWS) should have standard well-child visits and most will benefit from additional routine visits for chronic care assessment and management, perhaps as frequently as once a month in the early years. Co-management with genetics is recommended, preferably in a multidisciplinary clinic setting.Diagnostic Criteria
Consensus diagnostic criteria for PWS were first developed in 1993 by Holm et al. [Holm: 1993] Revised diagnostic criteria were developed in 2001 by Gunay-Aygun et al. [Gunay-Aygun: 2001] The new criteria are based on the individual's age and clinical presentation:- Birth to 2 years:
- Recognizable facial features, hypotonia with related feeding difficulties and failure to thrive, recognition of hypogonadism.
- 2 to 6 years:
- Recognizable facial features, hypotonia with gross motor delays, development of hyperphagia and weight gain, typically shorter stature and smaller OFC.
- 6 to 12 years:
- Development of unusual behaviors, learning disabilities, and cognitive impairments.
- Physical features may be more difficult to recognize, hands and feet may become relatively smaller in these years.
- Excessive eating with central obesity if uncontrolled.
- 13 years to adulthood:
- Cognitive impairment, usually mild mental retardation;
- Excessive eating with central obesity if uncontrolled; and
- Hypothalamic hypogonadism and or typical behavior problems.
To confirm these clinical findings as due to PWS, genetic testing is required.
Pearls And Alerts
Because children with PWS have decreased pain sensation, the child may not display the discomfort usually associated with otitis media, strep throat, or other infection. Any child with fever over 101 degrees should be evaluated by their Medical Home provider.
Due to poor calcium intake secondary to strict dietary control, decreased exercise, and hormone therapy, children with PWS may develop osteoporosis.
History And Examination
Interim History
Ask about:- problems with feeding and failure to thrive in infants and about hyperphagia in older children. Ask what management is being used, e.g., diet, exercise, behavior modification,
- the use of growth hormone therapy and testosterone or estrogen replacement therapy,
- symptoms of diabetes including frequent urination, acanthosis nigricans, etc.,
- energy level, constipation, and growth with consideration of hypothyroidism,
- problems while sleeping, including snoring, daytime sleepiness, and frequent arousals, that might suggest sleep apnea,
- self-injurious behavior including nose and skin picking.
Developmental and Educational Progress
Achievement of developmental milestones and, later, educational progress should be monitored. Ask about speech problems and consider referral to a speech-language therapist for further evaluation. Ask about behavior problems and obsessive compulsive features. Attention deficit hyperactivity disorder (ADHD) is common in individuals with PWS (up to 22% [Wigren: 2005]) and symptoms should be sought during the history. In older children and adults with PWS, ask about signs of psychosis such as auditory hallucinations and disordered thinking.Social and Family Functioning
Ask about the child's social abilities and interactions with other children, and about family functioning, including the availability of resources and supports from community groups and extended family.Physical Exam
Growth Parameters
Plot height and weight on PWS Growth Charts (
431 KB)
. [Butler: 1991] Follow BMI.
Heart
Listen for murmurs and gallops that may be a sign of hypertrophy or right sided heart failure; look for hepatomegaly or peripheral or sacral edema.Genitalia
Check for cryptorchidism and check Tanner stage and appearance of genitals. Check for signs of rectal ulcers due to skin picking. Look for signs of monilial or bacterial infection in deep skin folds.HEENT
- Screening for eye problems, such as strabismus and visual acuity, should be done at 1 year of age and as needed every 1 to 2 years.
- Monitor size of tonsils and adenoids, particularly in obese individuals.
- Check ears and throat for infection.
- Check nares for sores from nose-picking.
- Look for dental enamel defects.
Musculoskeletal
Check for scoliosis and dysplastic hips. Look for edema and skin changes in the legs in obese individuals. Fluid retention is usually noted first as swelling of the lower legs. Fluid retention in persons with PWS is usually a sign of a decreased ability to breathe adequately due to excessive weight.Testing
Sensory Testing
Although there are no specific sensory problems associated with PWS, regular visual and hearing screening are recommended.Laboratory Testing
Consider testing for hypothyroidism and type II diabetes. (TSH, free T4, Hgb A1C)Other Testing
Sleep study: Consider a sleep evaluation if the child has snoring, frequent awakenings, excessive daytime sleepiness, or other sleep problems.Imaging: Consider AP and lateral spine films to evaluate for scoliosis. Spinal deformities are estimated to occur in 40-90% of children with PWS. The Prader-Willi Syndrome Association (USA) recommends yearly screening with spine Xrays as deformities may not be clinically visible.
Dexa Scan: Because children with PWS may have multiple risk factors for osteoporosis, consider a Dexa scan to evaluate for osteoporosis, particularly in the setting of a fracture or fractures.
ADHD screen - Consider screening questionnaires for family and school if ADHD is suspected. For more information, see National Resource Center on ADHD and Caring for Children with ADHD Toolkit (AAP).
Subspecialist Evaluations
The primary care physician and multidisciplinary team should work together to access services in the community for these individuals. The multidisciplinary approach, found in locations with PWS-specific clinics, is most helpful. See Resources for other services.
Pediatric Endocrinology (see Services below for relevant providers)
Should be consulted to evaluate growth and other endocrine problems that are common in children with PWS (e.g., hypothyroidism, delayed secondary sexual characteristics).
Pediatric Medical Genetics (see Services below for relevant providers)
Will evaluate the child in the context of the natural history, developmental progress, genetics, and specific genetic risks (for the child and family) and help the family access support groups.
Developmental Pediatrics (see Services below for relevant providers)
Provide neurodevelopmental consultation.
Pediatric Orthopedics (see Services below for relevant providers)
For the periodic or PRN assessment of children with PWS for hip dysplasia, scoliosis, and complications of obesity.
Child Psychology (see Services below for relevant providers)
For the evaluation of behavior problems including hyperphagia, tantrums, and obsessive compulsive behaviors, as well as assessment of IQ and achievement testing to allow educational planning.
Pediatric Ophthalmology (see Services below for relevant providers)
For the evaluation of strabismus, myopia, and other visual problems.
Pediatric Gastroenterology (see Services below for relevant providers)
For evaluation of feeding problems, including failure to thrive, hyperphagia/obesity, rumination, and gastric dilatation.
Pediatric Otolaryngology (see Services below for relevant providers)
For evaluation of the contribution of enlarged tonsils and adenoids to sleep problems.
Pediatric Dentistry (see Services below for relevant providers)
For the evaluation of enamel defects and decreased saliva.
Resources
Information & Support
For Professionals
Prader-Willi Syndrome Review (GeneReviews)
Detailed overview of Prader-Willi syndrome, testing, genetics, resources, reviews, and research; hosted by NCBI (National
Center for Biotechnology Information).
Prader-Willi syndrome (OMIM)
Extensive review of the literature, including clinical features and gene therapy; from the Online Mendelian Inheritance in
Man site, hosted by Johns Hopkins University.
For Parents and Patients
Support
Prader-Willi Syndrome Association (USA)
A strong national organization of families and professionals, PSWA (USA) offers a toll-free helpline, a bimonthly newsletter
and numerous publications about PWS, a World-Wide-Web page, and annual family conference and scientific meeting, and chapters
throughout the country to provide local family support and advocacy.
Practice Guidelines
Goldstone AP, Holland AJ, Hauffa BP, Hokken-Koelega AC, Tauber M.
Recommendations for the diagnosis and management of Prader-Willi syndrome.
J Clin Endocrinol Metab.
2008;93(11):4183-97.
PubMed abstract
Written by an open international multidisciplinary expert group that met in October 2006 in France with 37 invited speakers/session
chairs and 85 additional participants. The guidelines were developed from published evidence-based data, unpublished data
from personal experience, previous National and International PWS Conferences and Prader-Willi Syndrome Association (USA)
Clinical Advisory Groups.
Services
Pediatric Endocrinology
Division of Pediatric Endocrinology,
more info...
615 Arapeen Dr., Suite 100
Salt Lake City, UT 84108
Phone: 801-581-7761
Fax: 801-587-3920
http://healthcare.utah.edu/utahdiabetescenter/pediatric/endocrinology.html
See all Pediatric Endocrinology services providers (2) in our database.
Pediatric Gastroenterology
See all Pediatric Gastroenterology services providers (2) in our database.
Pediatric Medical Genetics
Medical Genetics,
more info...
100 North Mario Capecchi Dr
Salt Lake City, UT 84132
Phone: 801-581-8943
Fax: 801-585-7252
http://www.ped.med.utah.edu/divisions/genetics.cfm
See all Pediatric Medical Genetics services providers (3) in our database.
For other services related to this condition, browse our Services categories or search our database.
Authors
| Author: | Judy L. Welch RN, BSN, 8/2008 |
| Contributing Authors: | Merlin G. Butler MD, PHD, 8/2008 Mary Riske RN, MS, 8/2008 |
| Reviewing Authors: | Alan Rope MD, 11/2008 Kyna Byerly MS, CGC, 8/2008 |
| Content Last Updated: | 12/2008 |
Funding/Support
This module was developed in partnership with the Heartland Regional Genetics and Newborn Screening Collaborative Heartland Regional Genetics and Newborn Screening Collaborative and was funded in part by a Health Resources Services Administration (HRSA) cooperative agreement (U22MC03962).We appreciate the Prader-Willi Syndrome Association (USA) for their outstanding support of individuals with PWS and their families and for the information they provide on their website – www.pwsausa.org – to which we have provided several links within the Diagnosis Module.
Page Bibliography
Butler MG, Meaney FJ.
Standards for selected anthropometric measurements in Prader-Willi syndrome.
Pediatrics.
1991;88(4):853-60.
PubMed abstract
Gunay-Aygun M, Schwartz S, Heeger S, O'Riordan MA, Cassidy SB.
The changing purpose of Prader-Willi syndrome clinical diagnostic criteria and proposed revised criteria.
Pediatrics.
2001;108(5):E92.
PubMed abstract / Full Text
Holm VA, Cassidy SB, Butler MG, Hanchett JM, Greenswag LR, Whitman BY, Greenberg F.
Prader-Willi syndrome: consensus diagnostic criteria.
Pediatrics.
1993;91(2):398-402.
PubMed abstract / Full Text
Wigren M, Hansen S.
ADHD symptoms and insistence on sameness in Prader-Willi syndrome.
J Intellect Disabil Res.
2005;49(Pt 6):449-56.
PubMed abstract