Sections View Full Chapter Figures Tables Videos Full Chapter Figures Tables Videos Supplementary Content ++ 759.81 Prader-Willi syndrome1 ++ Q87.1 Congenital malformation syndromes predominantly associated with short stature2 ++ 5C: Impaired motor function and sensory integrity associated with nonprogressive disorders of the central nervous system—congenital origin or acquired in infancy or childhood +++ Description ++ Lack of impression from several imprinted genes3Genetic disorder characterized bySpecific facial features such as almond shaped eyesHypotoniaHypogonadismStrabismus5Short statureCognitive deficitsInability to regulate appetiteMales with undescended testicles6Small hands and feet5,6 +++ Essentials of Diagnosis ++ Two stages3,4Stage 1 occurs during infancy with hypotonia and poor suck/swallow reflex that may result in failure to thriveStage 2 generally begins about 2 years of age with lack of satiety progressing to obesity +++ General Considerations ++ Growth hormone deficiency5Patients often develop complications from obesity and osteoporosis as they age8 +++ Demographics ++ 1 in 15,000 individuals4Affects females and males equally +++ Signs and Symptoms ++ Poor suck/swallow ability at birthHypotonia in infancySpecific facial features such as almond shaped eyesHypogonadismStrabismus5Short statureObesityCognitive deficitsInability to regulate appetiteHypogenitalism; males with undescended testicles6Small hands and feet5,6Developmental delay +++ Functional Implications ++ May require gastrostomy tube5Cognitive impairmentLearning disabilitiesPoor speech articulationBehavioral problems7Obsessive-compulsive disorder7Scoliosis7 +++ Possible Contributing Causes ++ Deletion in portion of chromosome 15q115Possibly due to dysfunction of hypothalamus4 +++ Differential Diagnosis8 ++ Obsessive-compulsive disorderFailure to thriveFragile X syndromeGrowth hormone disorder +++ Laboratory Tests ++ DNA methylation analysis4,5Magnetic resonance imaging (MRI) to assess pituitary gland8 +++ Imaging ++ Fluorescence in situ hybridization (FISH)Chromosomal Microarray Analysis (CMA)Standard radiograph to screen for scoliosis ++ Deletion in portion of chromosome 15q11 detected by FISH or microarray3 +++ Medication ++ Human growth hormones8SaizenGenotropinHumatropeNutropinSerostim ++ Orthopedist for possible scoliosisEndocrinologistGeneticistNutritionistOphthalmologistGastroenterologistPsychiatristOccupational therapistSpeech therapist ++ Poor head controlPoor trunk controlInability to sit independently ++ Bayley Scales of Motor Development or Bayley IIPeabody Scales of Motor DevelopmentMovement Assessment of InfantsNeonatal Behavioral Assessment ScaleEarly Intervention Developmental ProfileTest of Infant Motor PerformanceAlberta Infant Motor ScaleBruininks Oseretsky Test of Motor ProficiencySkin fold analysisSix-minute walk test ++ Behavior modificationDevelopmental activitiesAcquisition of motor milestones through facilitationTherapeutic ... Your MyAccess profile is currently affiliated with '[InstitutionA]' and is in the process of switching affiliations to '[InstitutionB]'. Please click ‘Continue’ to continue the affiliation switch, otherwise click ‘Cancel’ to cancel signing in. Get Free Access Through Your Institution Learn how to see if your library subscribes to McGraw Hill Medical products. Subscribe: Institutional or Individual Sign In Username Error: Please enter User Name Password Error: Please enter Password Forgot Username? Forgot Password? Sign in via OpenAthens Sign in via Shibboleth