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Questions and Answers
What percentage of Down syndrome cases are attributed to mosaicism?
What percentage of Down syndrome cases are attributed to mosaicism?
Translocation Down syndrome accounts for about 5% of all cases.
Translocation Down syndrome accounts for about 5% of all cases.
False (B)
What is the primary genetic cause of Down syndrome?
What is the primary genetic cause of Down syndrome?
an extra copy of chromosome 21
The chance of a 40-year-old woman having a child with Down syndrome is approximately 1 in _____.
The chance of a 40-year-old woman having a child with Down syndrome is approximately 1 in _____.
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Match the following types of Down syndrome with their characteristics:
Match the following types of Down syndrome with their characteristics:
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Which of the following is NOT a physical sign of Down syndrome?
Which of the following is NOT a physical sign of Down syndrome?
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Children with Down syndrome typically reach developmental milestones at the same pace as their peers.
Children with Down syndrome typically reach developmental milestones at the same pace as their peers.
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Name one cognitive symptom commonly associated with Down syndrome.
Name one cognitive symptom commonly associated with Down syndrome.
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One common behavioral symptom in children with Down syndrome is difficulty in communicating their ______.
One common behavioral symptom in children with Down syndrome is difficulty in communicating their ______.
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Match the developmental aspects to their corresponding descriptions for children with Down syndrome:
Match the developmental aspects to their corresponding descriptions for children with Down syndrome:
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Flashcards
Mosaic Down Syndrome
Mosaic Down Syndrome
A less common type of Down syndrome, where some cells have an extra chromosome 21 and others don't.
Translocation Down Syndrome
Translocation Down Syndrome
A type of Down syndrome where part of chromosome 21 attaches to another chromosome, maintaining a total of 46 chromosomes.
Down Syndrome Cause
Down Syndrome Cause
The cause of an extra portion of chromosome 21 in all or some cells is unknown.
Down Syndrome Risk Factors
Down Syndrome Risk Factors
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Down Syndrome Incidence in Mothers
Down Syndrome Incidence in Mothers
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Down Syndrome Symptoms
Down Syndrome Symptoms
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Physical Signs of Down Syndrome
Physical Signs of Down Syndrome
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Cognitive Symptoms of Down Syndrome
Cognitive Symptoms of Down Syndrome
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Behavioral Symptoms of Down Syndrome
Behavioral Symptoms of Down Syndrome
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Down Syndrome and Later Developments
Down Syndrome and Later Developments
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Study Notes
Introduction
- Genes carry codes for inherited traits
- Genetic material stored in the nucleus of each cell
- Chromosomes are rod-like structures in the nucleus, each cell typically contains 23 pairs
- Half of the chromosomes are inherited from each parent
- Down syndrome occurs when an individual has a full or partial extra copy of chromosome 21
Types of Down Syndrome
- Trisomy 21 (Nondisjunction): An extra chromosome 21
- Mosaicism: A mixture of cells, some with the usual 46 chromosomes and some with 47
- The least common type (around 2% of cases)
- Translocation: The total number of chromosomes remains 46, but an extra full or partial copy of chromosome 21 attaches to another chromosome (often chromosome 14)
Causes
- Unknown cause for the extra full or partial chromosome 21
- Age of the mother is a contributing factor, higher chance in older women
- Approximately 5% of cases traced to the father
- Environment and parents' activities before or during pregnancy not a determining factor
Symptoms
- Physical:
- Flat nose bridge
- Slanted upward-pointing eyes
- Short neck
- Small ears, hands, and feet
- Weak muscle tone at birth
- Small pinky finger pointing inward
- One crease in palm
- Shorter than average height
- Behavioral:
- Stubbornness
- Tantrums
- Difficulty paying attention
- Obsessive or compulsive behaviours
- Cognitive:
- Developmental challenges
- Intellectual or developmental disabilities
- Difficulties with walking, speaking, learning and play
Commonness
- Approximately 1 in every 772 babies born in the United States have Down syndrome
- About 5,100 babies with Down syndrome are born in the United States each year.
Down Syndrome Discovery
- John Langdon Down, an English physician, described Down syndrome in 1866.
Diagnosis
- Physical appearance
- Karyotype: Blood test to determine chromosome structure
- Screening tests
- First trimester combined test: Blood test to measure pregnancy-related hormones and ultrasound to measure nuchal translucency
- Second trimester quad screen: Blood test to measure several pregnancy-related hormones
- Diagnostic tests
- Chorionic villus sampling (CVS): Performed early in pregnancy to analyze fetal chromosomes
- Amniocentesis: Performed later in pregnancy to analyze fetal chromosomes
Treatment
- Early intervention important
- Team approach involving:
- Primary care pediatrician
- Pediatric cardiologist
- Pediatric gastroenterologist
- Pediatric endocrinologist
- Developmental pediatrician
- Pediatric neurologist
- Pediatric eye specialist (ophthalmologist)
- Audiologist
- Speech pathologist
- Physical therapist
- Occupational therapist
- Organizations for support:
- Global Down Syndrome Foundation
- International Down Syndrome Coalition (IDSC)
- International Mosaic Down Syndrome Association (IMDSA)
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