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Questions and Answers
What is the primary cause of Down syndrome?
What is a common characteristic of individuals with Down syndrome?
What is a goal of speech therapy for individuals with Down syndrome?
What is a type of prenatal testing for chromosomal abnormalities?
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What is a benefit of inclusive education for individuals with Down syndrome?
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What is a type of accommodation that can be used in inclusive education?
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What is a characteristic of Mosaic Down syndrome?
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What is a common health problem associated with Down syndrome?
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What is the average IQ range for individuals with Down syndrome?
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What is an alternative communication method used in speech therapy for individuals with Down syndrome?
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Study Notes
Chromosomal Abnormalities
- Down syndrome is a chromosomal abnormality caused by an extra copy of chromosome 21 (trisomy 21).
- This extra genetic material alters the development and function of various bodily systems.
- Mosaic Down syndrome: a rare form where only some cells have an extra copy of chromosome 21.
- Translocation Down syndrome: a rare form where part of chromosome 21 breaks off and attaches to another chromosome.
Developmental Delays
- Delays in physical, cognitive, and language development are common in individuals with Down syndrome.
- Delayed milestones: sitting, standing, walking, and talking.
- Increased risk of health problems: heart defects, vision and hearing impairments, and infections.
- Average IQ: 40-50, with a range of intellectual disability from mild to severe.
Speech Therapy
- Delayed speech and language development are common in individuals with Down syndrome.
- Speech therapy can improve communication skills, such as:
- Articulation: clear pronunciation of words.
- Fluency: smooth flow of speech.
- Vocabulary: understanding and using words.
- Syntax: constructing grammatically correct sentences.
- Augmentative and alternative communication (AAC) methods, such as sign language or picture communication symbols, can be used.
Genetic Testing
- Prenatal testing:
- Chorionic villus sampling (CVS): tests placental tissue for chromosomal abnormalities.
- Amniocentesis: tests amniotic fluid for chromosomal abnormalities.
- Postnatal testing:
- Karyotyping: examines chromosomes in a blood sample.
- Fluorescence in situ hybridization (FISH): rapid test for trisomy 21.
Inclusion Education
- Inclusive education: integrating students with Down syndrome into regular classrooms.
- Benefits:
- Socialization and friendships.
- Academic and cognitive growth.
- Increased self-esteem and confidence.
- Accommodations and modifications:
- Adaptive curriculum.
- Assistive technology.
- Individualized education plans (IEPs).
Chromosomal Abnormalities
- Trisomy 21, an extra copy of chromosome 21, causes Down syndrome, altering development and function of bodily systems.
- Mosaic Down syndrome occurs when only some cells have an extra copy of chromosome 21.
- Translocation Down syndrome occurs when part of chromosome 21 breaks off and attaches to another chromosome.
Developmental Delays
- Delays in physical, cognitive, and language development are common in individuals with Down syndrome.
- Delayed milestones include sitting, standing, walking, and talking.
- Individuals with Down syndrome are at increased risk of health problems, including heart defects, vision and hearing impairments, and infections.
- The average IQ of individuals with Down syndrome is 40-50, with a range of intellectual disability from mild to severe.
Speech Therapy
- Speech therapy can improve communication skills in individuals with Down syndrome, including:
- Articulation (clear pronunciation of words)
- Fluency (smooth flow of speech)
- Vocabulary (understanding and using words)
- Syntax (constructing grammatically correct sentences)
- Augmentative and alternative communication (AAC) methods, such as sign language or picture communication symbols, can be used to aid communication.
Genetic Testing
- Prenatal testing options include:
- Chorionic villus sampling (CVS), which tests placental tissue for chromosomal abnormalities
- Amniocentesis, which tests amniotic fluid for chromosomal abnormalities
- Postnatal testing options include:
- Karyotyping, which examines chromosomes in a blood sample
- Fluorescence in situ hybridization (FISH), a rapid test for trisomy 21
Inclusion Education
- Inclusive education integrates students with Down syndrome into regular classrooms, offering benefits such as:
- Socialization and friendships
- Academic and cognitive growth
- Increased self-esteem and confidence
- Accommodations and modifications can include:
- Adaptive curriculum
- Assistive technology
- Individualized education plans (IEPs)
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Description
Learn about chromosomal abnormalities like Down syndrome, including its different forms, and how they affect developmental delays in physical, cognitive, and other areas.
