Prader-Willi Syndrome 101
Transcript of Prader-Willi Syndrome 101
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Prader-Willi Syndrome 101Liz Mizerik, MS, CGC June 24, 2020
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OverviewClinical features
Behavioral features
Genetics
Treatment and management
Support
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PWSPrevalence: 1:10,000 to 1:30,000
Absence of expressed genes in PWS/AS region, 15q11.2-q13; specifically SNRPN
Complete penetrance
Average age of death is 33 years
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Clinical Features
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FeaturesHypotonia
Developmental delay
Hypogonadism
Appetite and obesity
Endocrinology
Sleep abnormalities
Behavior
Growth
Strabismus
Scoliosis
Hip dysplasia
Decreased saliva flow
Skin picking
Seizures (10-20%)
Recurrent respiratory infections (<50%)
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Nutritional Stages
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Ages 2 to 6Hypotonia with history of poor suck
Global developmental delay
https://www.pwsausa.org
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Ages 6 to 12History and/or presence of hypotonia with poor suck
Global developmental delay
Excessive eating with obesity (if uncontrolled)
https://www.pwsausa.org
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Ages 13+Cognitive impairment (i.e. mild ID)
Excessive eating with obesity (if uncontrolled)
Hypothalamic hypogonadism and/or typical behavior problems
http://www.bioquicknews.com/node/2126
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Behavioral Features
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Common BehaviorsHyperphagia (overeating) Compulsive behaviors (i.e. skin picking) Tantrums Stubbornness High pain tolerance Lethargic Impulsive Theft
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Behavioral ResourcesNational and Texas PWS Associations
Behavioral plan tips
Behavior Tool Kit
Parenting “hacks”
http://www.txpwa.org/resources-prader-willi/behaviours.html
https://www.pwsausa.org/what-we-do/family-medical-support/
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Genetics
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DiagnosisHigh-resolution chromosome studies and FISH
Microarray
DNA methylation studies: only way to dx PWS caused by all three mechanisms and to differentiate from Angelman syndrome
Greater than 99% detection rate
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Mechanisms
Chromosomal rearrangement with deletion of critical region: 1%
“Balanced” chromosome rearrangement breaking within critical region: <1%
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Recurrence Risks
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Treatment
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Feeding IssuesSpecial nipples
Feeding tube
G-button?
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Growth HormoneNormalize height
Increase lean body mass
Decrease fat mass
Increases mobility
Possible increases in language and cognition
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TherapiesPhysical therapy
Speech therapy
Special education
Behavioral management programs
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ObesityDiet (Dietician)
Exercise
Supervision
Hormone treatment
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Surveillance
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ManagementEndocrinology
Hypothyroidism
Growth hormones
Nutrition
Assess sucking problems and failure to thrive
Routinely measure height, weight, head circumference, and BMI on PWS growth charts
Sleep studies
Respiration/apnea
Development and speech evaluation
Cryptorchidism
Strabismus
Scoliosis (x-rays may be necessary)
Behavior problems and/or obsessive-compulsive features
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Assess NutritionMonitor height, weight, and BMI
Every month in infancy
Every six months until age 10
Annually
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Annual EvaluationDiabetes mellitus
Hypothyroidism
Sleep study if there is a history of sleep disturbance
Scoliosis (may require an x-ray in the presence of obesity)
DEXA scan for osteoporosis (every two years in adulthood)
Behavioral and psychiatric disturbances
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New Therapies?Many drugs under investigation for treatment of hyperphagia, obesity, and behavioral problems
Oxytocin trials completed
ClinicalTrials.gov
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Multidisciplinary Clinic
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The TeamGastroenterology
Endocrinology
Dietician
Genetics
Psychiatry
Social work
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LocationsTexas Children’s Hospital
https://www.texaschildrens.org/departments/prader-willi-clinic
The Children’s Hospital of San Antonio
https://www.christushealth.org/childrens/services-treatments/womens-services/genetics/genetic-counseling-services
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Support Resources
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Prader-Willi Syndrome AssociationThe basics
Up to date news and research
Parents, family, and friends resources
Resources for providers
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Texas PWS AssociationFinancial
Medical
Support groups
Legal
Behaviors
Nutrition and diet http://www.txpwa.org/
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Provider ResourcesGeneReviews
Last updated December 2017
https://www.ncbi.nlm.nih.gov/books/NBK1330/
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ReferencesCataletto, M., Angulo, M., Hertz, G., & Whitman, B. (2011). Prader-Willi syndrome: A primer for clinicians. International Journal of Pediatric Endocrinology, 2011(1), 12. http://doi.org/10.1186/1687-9856-2011-12. [A quick go-to guide for clinical information about PWS including features, diagnosis, treatment, and management.] Driscoll DJ, Miller JL, Schwartz S, et al. Prader-Willi Syndrome. 1998 Oct 6 [Updated 2016 Feb 4]. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2016. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1330/. [Comprehensive information about PWS including very detailed descriptions of features and management recommendations.] Ho-Ming, L. (January 01, 2016). Adult Prader-Willi Syndrome: An Update on Management. Case Reports in Genetics, 2016. [Case study of someone diagnosed with PWS in adulthood and the challenges they face.] Margje Sinnema, Stewart L. Einfeld, Constance T.R.M. Schrander-Stumpel, Marian A. Maaskant, Harm Boer, Leopold M.G. Curfs, Behavioral phenotype in adults with Prader–Willi syndrome, Research in Developmental Disabilities, Volume 32, Issue 2, March–April 2011, Pages 604-612, ISSN 0891-4222, http://dx.doi.org/10.1016/j.ridd.2010.12.014. [Descriptions of typical behaviors seen in PWS. This study also notes the behavioral differences in people with PWS syndrome depending on the type of inheritance (maternal UPD or paternal deletion).] Prader-Willi Syndrome (PWS): Condition Information. Retrieved from https://www.nichd.nih.gov/health/topics/prader-willi/conditioninfo/Pages/default.aspx. [General information related to PWS including a frequently asked questions section for common questions patients/families may have.] Prader-Willi syndrome - Genetics Home Reference. Retrieved from https://ghr.nlm.nih.gov/condition/prader-willi-syndrome. [General information about PWS in patient-friendly language.] Prader-Willi Syndrome Association - Prader-Willi Syndrome Association. Retrieved from http://www.pwsausa.org/. [Comprehensive information for patients, families, and friends as well as providers and researchers. Many resources are given for a variety of topics related to PWS (i.e. behavioral issues, new diagnosis, legal issues, etc.]