Down Syndrome Questions & Answers

Updated: Apr 30, 2018
  • Author: Gratias Tom Mundakel, MBBS, DCH; Chief Editor: Maria Descartes, MD  more...
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Questions & Answers

Overview

How is Down syndrome characterized?

What is the focus clinical history of Down syndrome?

What are the characteristic craniofacial features of Down syndrome?

Which general physical features are characteristic of Down syndrome?

Which lab tests are performed in the workup of Down syndrome?

Which imaging studies may be performed in the workup of Down syndrome?

Which postnatal diagnostic tests are performed in Down syndrome?

What is included in the ongoing care of patients with Down syndrome?

What is Down syndrome?

What is the role of genetics in the pathophysiology of Down syndrome?

What is the pathophysiology of Down syndrome?

What causes Down syndrome?

What is the prevalence of Down syndrome?

How is Down syndrome diagnosed?

How does maternal age affect the incidence of Down syndrome?

What are the sexual predilections of Down syndrome?

What are the racial predilections of Down syndrome?

What is the prognosis of Down syndrome?

What resources are available for parents of a child with Down syndrome?

What measures can be taken to help patients with Down syndrome transition from childhood to adulthood?

Presentation

What is included in the clinical history of Down syndrome?

What are the signs and symptoms of atlantoaxial instability in Down syndrome?

Which physical findings are characteristic of Down syndrome?

Which CNS findings are characteristic of Down syndrome?

Which behavioral and psychiatric findings are characteristic of Down syndrome?

What are the signs and symptoms of premature aging in Down syndrome?

Which physical findings of the skull are characteristic of Down syndrome?

Which ocular findings are characteristic of Down syndrome?

Which nasal findings are characteristic of Down syndrome?

Which physical findings of the mouth and teeth are characteristic of Down syndrome?

Which physical findings of the ear are characteristic of Down syndrome?

Which physical findings of the neck are characteristic of Down syndrome?

Which findings chest and abdomen are characteristic of Down syndrome?

Which cutaneous findings are characteristic of Down syndrome?

Which cardiac findings are characteristic of Down syndrome?

Which GI findings are characteristic of Down syndrome?

Which genitourinary tract findings are characteristic of Down syndrome?

Which skeletal findings are characteristic of Down syndrome?

Which endocrine disorders are associated with Down syndrome?

Which hematologic disorders are associated with Down syndrome?

How does Down syndrome affect the immune system?

Which benign lesions are characteristic of Down syndrome?

How does trisomy 21 mosaicism affect Down syndrome?

Which organ systems are affected by complications of Down syndrome?

What are the possible cardiovascular complications of Down syndrome?

What are the possible respiratory complications of Down syndrome?

What are the possible GI complications of Down syndrome?

What are the possible ophthalmologic complications of Down syndrome?

What are the possible otolaryngologic complications of Down syndrome?

What are the possible endocrine complications of Down syndrome?

What are the possible hematologic complications of Down syndrome?

What are the possible immunologic complications of Down syndrome?

What are the possible orthopedic complications of Down syndrome?

What are the possible behavioral and psychiatric complications of Down syndrome?

What is the prevalence of Alzheimer disease in Down syndrome?

What is the prevalence of physical and sexual abuse in patients with Down syndrome?

DDX

Which conditions are included in the differential diagnoses of Down syndrome?

What are the differential diagnoses for Down Syndrome?

Workup

How is the diagnosis of Down syndrome confirmed?

What is the role of lab tests in the workup of Down syndrome?

What is the role of cytogenetic studies in the workup of Down syndrome?

What is the role of FISH in the workup of Down syndrome?

What is the role of IgG measurement in the workup of Down syndrome?

What is the role of imaging studies in the workup of Down syndrome?

What is the role of prenatal screening in the diagnosis of Down syndrome?

What is the role of nuchal translucency (NT) in prenatal screening of Down syndrome?

What is included in first-semester prenatal screening of Down syndrome?

What is included in second-semester prenatal screening of Down syndrome?

What is integrated prenatal screening of Down syndrome?

What is the role of cell-free fetal DNA testing in prenatal screening of Down syndrome?

What is the role of ultrasonography in prenatal screening of Down syndrome?

Which invasive procedures are performed in prenatal screening of Down syndrome?

What is the role of brainstem auditory evoked response (BAER) in postnatal testing of Down syndrome?

Which postnatal tests should be performed in infants with Down syndrome?

Which histologic findings are characteristic of Alzheimer disease in Down syndrome?

Treatment

How is Down syndrome treated?

What is the role of surgery in the treatment of Down syndrome?

Which dietary modifications are used in the treatment of Down syndrome?

Which activity modifications are used in the treatment of Down syndrome?

Which specialist consultations are beneficial to patients with Down syndrome?

What is the risk for recurrence of Down syndrome in mothers and siblings of a patient with Down syndrome?

How does the type of translocation affect recurrence risk in Down syndrome?

What causes mosaic Down syndrome?

How does Down syndrome affect fertility?

Which medications are used in the treatment of Down syndrome?

How is Down syndrome treated in adolescents and young adults?

Guidelines

Which organization has released guidelines on the prenatal screening of Down syndrome?

What are the AAP guidelines on health supervision of Down syndrome from birth to early adulthood?

Medications

What is the role of medications in the treatment of Down syndrome?

Which medications in the drug class Diuretics, Other are used in the treatment of Down Syndrome?

Which medications in the drug class Antidysrhythmics, Ia are used in the treatment of Down Syndrome?

Which medications in the drug class Analgesics, Other are used in the treatment of Down Syndrome?