Pediatric Patient Resources: Difference between revisions
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'''Definition''': Genetic disorder occurring when the individual has full or a partial copy of chromosome 21. This extra genetic material causes an alteration in the development of the child. | '''Definition''': Genetic disorder occurring when the individual has full or a partial copy of chromosome 21. This extra genetic material causes an alteration in the development of the child. | ||
<br>'''How common is it?''' | <br>'''How common is it?''' | ||
<br>'''Types''' | <br> • Most common genetic disorder<br> • ~1:691 babies are born each year with Down’s Syndrome<br> • ~6,000 babies are born each year with Down’s Syndrome | ||
<br>'''Types''' | |||
<br> • Trisomy 21 (Nondisjunction)<br> o The pair of the 21st chromosome fails to separate <br> o Extra chromosome is replicated in every cell in the body<br> o Accounts for ~95% of cases<br> <br> • Mosaicism<br> o Nondisjunction takes place in chromosome 21 in one cell but not all cells<br> o Accounts for ~1% of cases<br> o May have fewer characteristics than other types of Down’s Syndrome<br> <br> • Translocation<br> o Part of chromosome 21 breaks off during cell division and attaches to another chromosome, typically chromosome 14<br> o Accounts for ~4% of cases | <br> • Trisomy 21 (Nondisjunction)<br> o The pair of the 21st chromosome fails to separate <br> o Extra chromosome is replicated in every cell in the body<br> o Accounts for ~95% of cases<br> <br> • Mosaicism<br> o Nondisjunction takes place in chromosome 21 in one cell but not all cells<br> o Accounts for ~1% of cases<br> o May have fewer characteristics than other types of Down’s Syndrome<br> <br> • Translocation<br> o Part of chromosome 21 breaks off during cell division and attaches to another chromosome, typically chromosome 14<br> o Accounts for ~4% of cases | ||
<br>'''Causes''' | <br>'''Causes''' | ||
<br> • Cause of nondisjunction is currently unknown<br> o Research suggests the likelihood increases as women age<br> o No definitive research suggesting environmental factors of the parents before or during pregnancy | <br> • Cause of nondisjunction is currently unknown<br> o Research suggests the likelihood increases as women age<br> o No definitive research suggesting environmental factors of the parents before or during pregnancy | ||
<br>'''How is Down’s Syndrome Diagnosed? ''' | <br>'''How is Down’s Syndrome Diagnosed? ''' | ||
<br> • Prenatally | <br> • Prenatally | ||
<br> o Screening tests<br> Most only provide a probability<br> Blood test: measures quantities of various substances in the mother’s blood<br> Ultrasound: checks for “markers” | <br> o Screening tests<br> Most only provide a probability<br> Blood test: measures quantities of various substances in the mother’s blood<br> Ultrasound: checks for “markers” | ||
<br> o Diagnostic tests<br> Can provide a definite diagnosis with almost 100% accuracy <br> Carry up to a 1% risk of causing a spontaneous termination <br> Chorionic villus sampling (CVS): usually performed in first trimester between 9 and 11 weeks<br> Amniocentesis: usually performed in the second trimester after 15 weeks | <br> o Diagnostic tests<br> Can provide a definite diagnosis with almost 100% accuracy <br> Carry up to a 1% risk of causing a spontaneous termination <br> Chorionic villus sampling (CVS): usually performed in first trimester between 9 and 11 weeks<br> Amniocentesis: usually performed in the second trimester after 15 weeks | ||
<br> • At birth | <br> • At birth | ||
<br> o Usually identified by certain physical traits<br> Low muscle tone<br> Single deep crease across the palm of the hand<br> Slightly flattened facial profile <br> Upward slant to the eyes | <br> o Usually identified by certain physical traits<br> Low muscle tone<br> Single deep crease across the palm of the hand<br> Slightly flattened facial profile <br> Upward slant to the eyes | ||
<br> o Chromosomal analysis may also need to be done to confirm the diagnosis <br> This is done by drawing a sample of the baby’s blood <br><br> | <br> o Chromosomal analysis may also need to be done to confirm the diagnosis <br> This is done by drawing a sample of the baby’s blood <br><br> |
Revision as of 04:00, 25 June 2013
Top Contributors - Alicia Dupilka
Original Editors - Alicia Dupilka, Elaine Lonnemann, Kim Jackson, Leana Louw, WikiSysop, Scott Buxton and Admin
Resources for Physiotherapists and the Families of their Pediatric Clients
[edit | edit source]
Autism[edit | edit source]
Cerebral Palsy[edit | edit source]
Down Syndrome [1][edit | edit source]
Definition: Genetic disorder occurring when the individual has full or a partial copy of chromosome 21. This extra genetic material causes an alteration in the development of the child.
How common is it?
• Most common genetic disorder
• ~1:691 babies are born each year with Down’s Syndrome
• ~6,000 babies are born each year with Down’s Syndrome
Types
• Trisomy 21 (Nondisjunction)
o The pair of the 21st chromosome fails to separate
o Extra chromosome is replicated in every cell in the body
o Accounts for ~95% of cases
• Mosaicism
o Nondisjunction takes place in chromosome 21 in one cell but not all cells
o Accounts for ~1% of cases
o May have fewer characteristics than other types of Down’s Syndrome
• Translocation
o Part of chromosome 21 breaks off during cell division and attaches to another chromosome, typically chromosome 14
o Accounts for ~4% of cases
Causes
• Cause of nondisjunction is currently unknown
o Research suggests the likelihood increases as women age
o No definitive research suggesting environmental factors of the parents before or during pregnancy
How is Down’s Syndrome Diagnosed?
• Prenatally
o Screening tests
Most only provide a probability
Blood test: measures quantities of various substances in the mother’s blood
Ultrasound: checks for “markers”
o Diagnostic tests
Can provide a definite diagnosis with almost 100% accuracy
Carry up to a 1% risk of causing a spontaneous termination
Chorionic villus sampling (CVS): usually performed in first trimester between 9 and 11 weeks
Amniocentesis: usually performed in the second trimester after 15 weeks
• At birth
o Usually identified by certain physical traits
Low muscle tone
Single deep crease across the palm of the hand
Slightly flattened facial profile
Upward slant to the eyes
o Chromosomal analysis may also need to be done to confirm the diagnosis
This is done by drawing a sample of the baby’s blood
Recent Related Research (from Pubmed)[edit | edit source]
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References[edit | edit source]
- ↑ National Down Syndrome Society. Down Syndrome. National Down Syndrome Society. http://www.ndss.org/Down-Syndrome/What-Is-Down-Syndrome/. Published 2012. Accessed June 24, 2013.