Down Syndrome Overview
Down syndrome is a genetic disorder caused by the presence of an extra copy of chromosome 21. Distinctive physical features, developmental delays, and intellectual disabilities characterize it.
Individuals with Down syndrome may also have various health issues, such as
While there is no cure for Down syndrome, early intervention, therapies, and support services can help individuals with the condition lead fulfilling lives and reach their full potential.
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Types of Down syndrome
There are three types
- Trisomy 21
- Translocation Down syndrome
- Mosaic Down syndrome
Down Syndrome Symptoms
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Distinctive facial features, such as
- Small head
- Flattened face
- Short neck
- Protruding tongue
- Palpebral fissures - Upward slanting eye lids
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Congenital heart defects
- Atrioventricular septal defect (AVSD)
- Ventricular septal defect (VSD)
- Secundum atrial defect
- Tetralogy of Fallot
- Isolated PDA
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Gastrointestinal (GI) abnormalities
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Hematological disorders
- Transient abnormal myelopoiesis (TAM) or transient leukaemia
- Neutrophilia
- Thrombocytopenia
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polycythemia
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Neurologic Disorders
- Intellectual disability
- Less concentration
- Seizures
- Myoclonic seizures
- Lennox-Gastaut syndrome
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Dementia
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Endocrinological Disorders
- Thyroid gland dysfunction
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Hypothyroidism
- Hyperthyroidism (rare)
- Delayed puberty
- Primary hypogonadism (in girls)
- Cryptorchidism, micropenis, ambiguous genitalia, small testes, low sperm count and less pubic hair. (in boys)
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Musculoskeletal Disorders
- Hypotonia (decreased muscle tone)
- Decreased bone mass leads to an increased risk of fractures.
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Vitamin D deficiency
- Growth retardation
- Short height
- Broad, short hands
- Short fingers and small hands and feet
- Refractive Errors and Visual Abnormalities
- Otorhinolaryngological ( ENT) Disorders
What Causes Down Syndrome?
A child gets genetic material from its parents in the form of 46 chromosomes, mostly 23 from the father and 23 from the mother. Often, in Down syndrome, a baby inherits an extra chromosome 21, resulting in a total of 47 chromosomes instead of 46. In a few cases, the extra chromosome 21 gets attached to another chromosome.
This additional genetic material causes distinctive physical features and developmental disabilities in Down syndrome individuals. The characteristics are the same if the extra chromosome is by itself or attached to another one. Any one of the below-given genetic variations can have Down syndrome.
- Trisomy 21
- Mosaic Down syndrome
- Translocation Down syndrome
Risk Factors of Down Syndrome
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Advancing maternal age: Women above 35 years of age possess a higher risk of giving birth to a child with Down syndrome.
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Being a carrier of the Down syndrome genetic translocation: Both father and mother can pass on the genetic translocation for Down syndrome to their kids.
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Having a first child with Down syndrome: Parents who already have one child with it and parents who have translocation Down syndrome themselves have a higher chance of having another child with the same condition.
Diagnosis of Down Syndrome
Pregnant women of all ages should undergo screening tests and diagnostic tests to diagnose Down syndrome
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Screening tests: These tests can indicate the possibility that a mother is carrying a child with Down syndrome. The screening tests can't accurately show whether the baby has Down syndrome.
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Screening tests during pregnancy: Screening tests are used to identify the risk of carrying a Down syndrome baby. These tests can help to make decisions about other, more specific diagnostic tests.
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Screening tests include :
- Nuchal translucency testing
- The triple screen or quadruple screen (multiple marker test)
- Integrated screen
- An ultrasound
- Cell-free fetal DNA analysis
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Diagnostic tests include :
- Chorionic villus sampling (CVS)
- Amniocentesis
- Percutaneous umbilical blood sampling (PUBS) or cordocentesis
Down Syndrome Treatment
- Down syndrome cannot be cured but can be managed with a multidimensional approach.
- Newborns suspected of Down syndrome should undergo karyotyping for diagnosis confirmation.
- Genetic testing and counseling for both parents are recommended.
- Early therapies focus on improving motor, speech, coordination, and educational skills.
- Proper treatment and support enable individuals with Down syndrome to lead happy and productive lives.
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