Down Syndrome Flashcards
What is Down syndrome also known as?
trisomy 21
What is the prevalence of Down syndrome?
8.3 per 10,000
What are common clinical features of Down syndrome?
- characteristic facies and stature
- developmental delay and learning difficulties
- increased incidence of respiratory disease, CHD, GI malformations, autoimmunity, endocrine disease, hematologic malignancy, orthopedic, vision, hearing disorders
What is the median age at death for individuals with Down syndrome?
49-60 years
What is the second leading cause of death in Down syndrome?
respiratory disease
What anatomical features contribute to upper airway narrowing in Down syndrome?
- macroglossia
- midface hypoplasia
- narrowed nasopharynx
- choanal stenosis
- enlarged tonsils and adenoids
- lingual tonsils
- short palate
What is the diameter of the trachea in Down syndrome compared to the general population?
approximately 2 mm narrower
What is the most common finding in endoscopy for airway symptoms in Down syndrome?
tracheobronchomalacia
What is laryngomalacia and when does it usually present in children with Down syndrome?
a condition that usually presents in the first months of life
What surgical procedure is reserved for complications of laryngomalacia?
Supraglottoplasty
What is the prevalence of congenital subglottic stenosis in Down syndrome?
approximately 1.3%
What are common clinical manifestations of upper respiratory tract disease in Down syndrome?
- cough
- parental report of noisy breathing
- snoring
What condition is common in Down syndrome and affects up to 80% of individuals?
Sleep-related breathing disorders (SDB, OSA)
What are some structural and functional contributing factors to sleep-related breathing disorders in Down syndrome?
- midfacial hypoplasia
- apparent large tongue
- small upper airway
- increased secretions
- obesity
- hypotonia
What is the first-line treatment for sleep-related breathing disorders in Down syndrome?
Adenotonsillectomy
What are contributing factors to pulmonary infections in Down syndrome?
- decreased pulmonary reserve due to morphologic differences
- poor immunologic function
- GERD and aspiration
- CHD
- thoracic cage malformations
What is the histopathological feature of the lower respiratory tract in Down syndrome?
- enlarged alveoli
- acinar dysplasia (deficient alveolar multiplication)
What is a common reason for admission in Down syndrome patients?
- CHD
- pneumonia
- acute bronchitis
- bronchiolitis
What percentage of Down syndrome patients with RSV infection require mechanical ventilation?
10%
What are some abnormalities of immune cell function in Down syndrome?
- defects in adaptive immunity
- abnormalities of innate immunity
- reduced neutrophil chemotaxis
What is the presentation of lower respiratory tract infections in Down syndrome similar to?
those without Down syndrome
What is the risk of wheeze in children with Down syndrome?
diagnosed in up to 30% of children with DS
What types of effusions are frequently seen in Down syndrome?
- pleural (chylous or nonchylous)
- pericardial
What rare disease associated with Down syndrome involves recurrent anemia requiring transfusion?
idiopathic pulmonary hemosiderosis
