Pediatric Patient Resources: Difference between revisions

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= Resources for Physical Therapists and the Families of the Pediatric Population =
== Introduction ==


This section is dedicated to the rare conditions diagnosed in the pediatric population. &nbsp; &nbsp; &nbsp; &nbsp; &nbsp; &nbsp; &nbsp; &nbsp; &nbsp; &nbsp; &nbsp; &nbsp; &nbsp; &nbsp; &nbsp; &nbsp; &nbsp; &nbsp; &nbsp; &nbsp; &nbsp; &nbsp; &nbsp; &nbsp; &nbsp; &nbsp; &nbsp; &nbsp; &nbsp; &nbsp; &nbsp; &nbsp; &nbsp; &nbsp; &nbsp; &nbsp; &nbsp; &nbsp; &nbsp; &nbsp; &nbsp; &nbsp; &nbsp; &nbsp; &nbsp; &nbsp; &nbsp; &nbsp; &nbsp; &nbsp; &nbsp; &nbsp; &nbsp;&nbsp;[[Image:Kosair.jpg|120x132px]]  
This page contains resources for physiotherapists and families relating to rare conditions diagnosed within the pediatric population. &nbsp; &nbsp; &nbsp; &nbsp; &nbsp; &nbsp; &nbsp; &nbsp; &nbsp; &nbsp; &nbsp; &nbsp; &nbsp; &nbsp; &nbsp; &nbsp; &nbsp; &nbsp; &nbsp; &nbsp; &nbsp; &nbsp; &nbsp; &nbsp; &nbsp; &nbsp; &nbsp; &nbsp; &nbsp; &nbsp; &nbsp; &nbsp; &nbsp; &nbsp; &nbsp; &nbsp; &nbsp; &nbsp; &nbsp; &nbsp; &nbsp; &nbsp; &nbsp; &nbsp; &nbsp; &nbsp; &nbsp;
== Autism Spectrum Disorder and Autism&nbsp;[[Image:Autism ribbon.png|120x132px]] ==


'''Kosair Childrens Hospital'''
===Definition===
* Look into conditions and services
Group of complex disorders of the brain. Varying degrees of characteristics including: difficulties in social interaction, verbal and nonverbal communication and repetitive behaviors<ref name="Autism Speaks">Autism Speaks. It's Time to Listen. Available from:http://www.autismspeaks.org/ (accessed 27/06/2013).</ref>.  
* Find a doctor
* See current news
* Visit their [http://www.kosairchildrens.com/ health library]
<br> '''Pediatric Leukemias'''
* The Children’s Hospital of Philadelphia
* In depth [http://www.chop.edu/service/oncology/cancers-explained/leukemia-diagnosis-and-treatment.html resource of pediatric leukemias]<br>&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp; [[Image:Logo.gif]]
'''Pediatric Rheumatology'''
* [http://www.ped-rheum.com/content/6/1/16 Review of childhood sarcoidosis] <br>&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp; [[Image:Msf.jpg|120x132px]]
'''Multiple Sclerosis Foundation'''
* Insight on pediatric MS
* [http://www.msfocus.org/article-details.aspx?articleID=374 Coping with MS]
<br> '''Failure to Thrive'''
* Clinical key by Elsevier
* [https://www.clinicalkey.com/topics/pediatrics/failure-to-thrive.html In depth overview of diagnosis]<br>
'''National Organization for Rare Diseases'''
* Search the [http://www.rarediseases.org/rare-disease-information/rare-diseases rare disease database] and download the free report
<br> '''The Global Genes Project'''
* [http://globalgenes.org/ Learn what they are about]
* Get involved
* Resources available:
** Search their [http://globalgenes.org/rarelist/ RARE list] 
** Search their [http://globalgenes.org/rarefacts/ RARE facts]
 
== Autism Spectrum Disorder and Autism<ref name="Autism Speaks">Autism Speaks. It's Time to Listen. Available from:http://www.autismspeaks.org/ (accessed 27/06/2013).</ref>&nbsp;[[Image:Autism ribbon.png|120x132px]]  ==
 
=== '''Definition''' ===
Group of complex disorders of the brain. Varying degrees of characteristics including: difficulties in social interaction, verbal and nonverbal communication and repetitive behaviors.  


* Autism Spectrum Disorder (ASD): can display with intellectual disabilities, difficulties in coordination and attention and physical health issues.
* Autism Spectrum Disorder (ASD): can display with intellectual disabilities, difficulties in coordination and attention and physical health issues.
* Autism: most obvious signs and symptoms tend to emerge between 2 and 3 years old  
* Autism: most obvious signs and symptoms tend to emerge between 2 and 3 years old  


=== '''How common is Autism and ASD?'''&nbsp; ===
===How Common Are Autism And ASD?&nbsp; ===
* ASD:  Affects over 2 million individuals in the United States  
* ASD:  Affects over 2 million individuals in the United States  
* Autism:  
* Autism:  
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** An estimated 1 out of 54 boys and 1 in 252 girls are diagnosed in the United States  
** An estimated 1 out of 54 boys and 1 in 252 girls are diagnosed in the United States  


=== '''Causes''' ===
===Causes===
* No one cause  
* No one cause  
* Rare gene changes  Most cases are a combination of gene changes and environmental factor  
* Rare gene changes  Most cases are a combination of gene changes and environmental factor  
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** Untreated phenylketonuria (PKU)  
** Untreated phenylketonuria (PKU)  


=== '''How is ASD/Autism diagnosed?''' ===
===How is ASD/Autism Diagnosed?===
* No specific medical test  
* No specific medical test  
* Administer autism-specific behavioral evaluations  
* Administer autism-specific behavioural evaluations  
* Parents usually notice:  
* Parents usually notice:  
** Failure to make eye contact  
** Failure to make eye contact  
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* Genetic testing may be recommended
* Genetic testing may be recommended


=== '''Resources''' ===
===Resources for Autism===
'''Kentucky Autism Training Center'''
'''Kentucky Autism Training Center'''
* [http://katcproviders.louisville.edu/ Find specific services by region or county]
* [http://katcproviders.louisville.edu/ Find specific services by region or county]
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'''National Institute of Neurological Disorders and Stroke'''
'''National Institute of Neurological Disorders and Stroke'''
* [http://www.ninds.nih.gov/disorders/autism/detail_autism.htm Fact sheet] on ASD and Autism
* [http://www.ninds.nih.gov/disorders/autism/detail_autism.htm Fact sheet] on ASD and Autism
'''Autism Research Institute'''<br>&nbsp; &nbsp; &nbsp; &nbsp; &nbsp; o Find out about current research<br>&nbsp; &nbsp; &nbsp; &nbsp; &nbsp; o http://www.autism.com/
'''Autism Research Institute'''
 
* Find out about current research
* http://www.autism.com/
'''[http://www.autism-society.org/ Autism Society]'''
'''[http://www.autism-society.org/ Autism Society]'''
* Has news, research and ways to get involved
* Has news, research and ways to get involved
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== Cerebral Palsy (CP)&nbsp;[[Image:Cerebral-palsy-awareness-ribbon.jpg.png|120x132px]]  ==
== Cerebral Palsy (CP)&nbsp;[[Image:Cerebral-palsy-awareness-ribbon.jpg.png|120x132px]]  ==


=== '''Definition''' ===
===Definition===
Disorder of movement, muscle tone or posture that is caused by injury or abnormal development in the immature brain.<ref name="Mayo">Mayo Clinic. Cerebral Palsy. Available from:http://www.mayoclinic.com/health/cerebral-palsy/DS00302/DSECTION=complications (accessed 30/06/2013).</ref>
[[Cerebral Palsy Introduction|Cerebral Palsy]] describes a disorder of movement, muscle tone or posture that is caused by injury or abnormal development in the immature brain.<ref name="Mayo">Mayo Clinic. Cerebral Palsy. Available from:http://www.mayoclinic.com/health/cerebral-palsy/DS00302/DSECTION=complications (accessed 30/06/2013).</ref>


=== '''How common is CP?&nbsp;<ref name="American Prego">American Pregnancy Association: Promoting Pregnancy Wellness. Cerebral Palsy. United Cerebral Palsy. Available from:http://americanpregnancy.org/birthdefects/cerebralpalsy.htm (accessed 30/06/2013).</ref>''' ===
===How Common is CP?&nbsp;<ref name="American Prego">American Pregnancy Association: Promoting Pregnancy Wellness. Cerebral Palsy. United Cerebral Palsy. Available from:http://americanpregnancy.org/birthdefects/cerebralpalsy.htm (accessed 30/06/2013).</ref>===
* Usually not diagnosed until the age of 2 or 3
* Usually not diagnosed until the age of 2 or 3
* ~2-3:1,000 children over the age of three have the condition
* ~2-3:1,000 children over the age of three have the condition
* ~500,000 children and adults have CP in the United States
* ~500,000 children and adults have CP in the United States


=== '''Types<ref name="American Prego" /> ''' ===
===Types<ref name="American Prego" /> ===
* [[Spasticity|Spastic]]:  
* [[Spasticity|Spastic]]:  
** ~70-80% of cases  
** ~70-80% of cases  
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*** Difficulty with motions that require precise coordination
*** Difficulty with motions that require precise coordination


=== '''Causes<ref name="Mayo" />''' ===
===Causes<ref name="Mayo" />===
* Abnormality or disruption in brain development
* Abnormality or disruption in brain development
* Random mutations in genes
* Random mutations in genes
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* [[Traumatic Brain Injury|Traumatic head injury]]
* [[Traumatic Brain Injury|Traumatic head injury]]


=== '''Risk factors<ref name="Mayo" />''' ===
===Risk Factors<ref name="Mayo" />===
* Mother’s health:
* Mother’s health:
** Certain infections or health problems significantly increase the chance to giving birth to a baby with CP:
** Certain infections or health problems significantly increase the chance to giving birth to a baby with CP:
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** Multiple babies
** Multiple babies


=== '''How is CP diagnosed?<ref name="Mayo" />''' ===
===How is CP Diagnosed?<ref name="Mayo" />===
* Signs and symptoms usually appear during infancy or preschool years:
* Signs and symptoms usually appear during infancy or preschool years:
** Impaired movement associated with:
** Impaired movement associated with:
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*** Other developmental delays<br>
*** Other developmental delays<br>


=== '''Resources''' ===
===Resources for Cerebral Palsy===
'''[http://cerebralpalsy.org/ MyChild™]:'''
'''[http://cerebralpalsy.org/ MyChild™]:'''
* Their mission: “to provide you with the most comprehensive resource and compassionate voice for all things related to caring for a child with cerebral palsy, and other neurological conditions. We strive, everyday, to be your ULTIMATE Resource for EVERYTHING Cerebral Palsy.”<br>
* Their mission: “to provide you with the most comprehensive resource and compassionate voice for all things related to caring for a child with cerebral palsy, and other neurological conditions. We strive, everyday, to be your ULTIMATE Resource for EVERYTHING Cerebral Palsy.”
'''[http://cerebralpalsyresources.com/kentucky Cerebral Palsy Resources]'''<br>
'''[http://cerebralpalsyresources.com/kentucky Cerebral Palsy Resources]'''


'''[http://www.mattinglycenter.org/aboutus.html Mattingly Center, Inc.]'''
'''[http://www.mattinglycenter.org/aboutus.html Mattingly Center, Inc.]'''
* Cerebral Palsy School of Louisville, Inc.
* Cerebral Palsy School of Louisville, Inc.
* Their mission “To provide the highest quality of structured day services for adults with severe developmental disabilities.”
* Their mission “To provide the highest quality of structured day services for adults with severe developmental disabilities.”
== <ref name="NDSS">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.</ref> <ref name="NDSS">National Down Syndrome Society. Down Syndrome. Available from: http://www.ndss.org/Down-Syndrome/What-Is-Down-Syndrome/ (accessed 24/06/2013).</ref>&nbsp;&nbsp;[[Image:Down.syndrome.ribbon.magnet.jpg|120x132px]]  ==
== &nbsp;Down Syndrome&nbsp;[[Image:Down.syndrome.ribbon.magnet.jpg|120x132px]]  ==


=== '''Definition''' ===
===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.  
[[Down Syndrome (Trisomy 21)|Down's Syndrome]] is a 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.<ref name="NDSS">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.</ref>


=== '''How common is Down's Syndrome?''' ===
===How Common is Down's Syndrome?===
* Most common genetic disorder  
* Most common genetic disorder  
* ~1:691 babies are born each year with Down’s Syndrome  
* ~1:691 babies are born each year with Down’s Syndrome  
* ~6,000 babies are born each year with Down’s Syndrome  
* ~6,000 babies are born each year with Down’s Syndrome  


=== '''Types''' ===
===Types===
* Trisomy 21 (Nondisjunction):  
* Trisomy 21 (Nondisjunction):  
** The pair of the 21st chromosome fails to separate   
** The pair of the 21st chromosome fails to separate   
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*** Accounts for ~4% of cases  
*** Accounts for ~4% of cases  


=== '''Causes''' ===
===Causes===
* Cause of non-disjunction is currently unknown:
* Cause of non-disjunction is currently unknown:
** Research suggests the likelihood increases as women age
** Research suggests the likelihood increases as women age
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**Note: Age 34 is not accurate. NDSS has noted the error but has yet to find out the correct information.
**Note: Age 34 is not accurate. NDSS has noted the error but has yet to find out the correct information.


=== '''How is Down’s Syndrome Diagnosed? ''' ===
===How is Down’s Syndrome Diagnosed? ===
<u>Prenatally</u>  
<u>Prenatally</u>  
* Screening tests:  
* Screening tests:  
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** This is done by drawing a sample of the baby’s blood  
** This is done by drawing a sample of the baby’s blood  


=== '''Resources''' ===
===Resources for Down Syndrome===
'''[http://www.downsyndromeoflouisville.org/ Down Syndrome of Louisville]'''
'''[http://www.downsyndromeoflouisville.org/ Down Syndrome of Louisville]'''
* Lifelong learning center for individuals with Down Syndrome
* Lifelong learning center for individuals with Down Syndrome
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*'''[http://yellowbrickroadshop.com/ Yellow Brick Road Shop]'''  
*'''[http://yellowbrickroadshop.com/ Yellow Brick Road Shop]'''  
*'''[http://www.especialneeds.com/home.php eSpecial Needs]'''
*'''[http://www.especialneeds.com/home.php eSpecial Needs]'''
</div>  
</div>
 
== Resources ==
 
&nbsp; &nbsp; &nbsp; &nbsp; &nbsp; &nbsp;&nbsp;[[Image:Kosair.jpg|120x132px]]
 
'''Kosair Childrens Hospital'''
* Look into conditions and services
* Find a doctor
* See current news
* Visit their [http://www.kosairchildrens.com/ health library]
<br> '''Pediatric Leukemias'''
* The Children’s Hospital of Philadelphia
* In depth [http://www.chop.edu/service/oncology/cancers-explained/leukemia-diagnosis-and-treatment.html resource of pediatric leukemias]<br>&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp; [[Image:Logo.gif]]
'''Pediatric Rheumatology'''
* [http://www.ped-rheum.com/content/6/1/16 Review of childhood sarcoidosis] <br>&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp; [[Image:Msf.jpg|120x132px]]
'''Multiple Sclerosis Foundation'''
* Insight on pediatric MS
* [http://www.msfocus.org/article-details.aspx?articleID=374 Coping with MS]
<br> '''Failure to Thrive'''
* Clinical key by Elsevier
* [https://www.clinicalkey.com/topics/pediatrics/failure-to-thrive.html In depth overview of diagnosis]<br>
'''National Organization for Rare Diseases'''
* Search the [http://www.rarediseases.org/rare-disease-information/rare-diseases rare disease database] and download the free report
<br> '''The Global Genes Project'''
* [http://globalgenes.org/ Learn what they are about]
* Get involved
* Resources available:
** Search their [http://globalgenes.org/rarelist/ RARE list] 
** Search their [http://globalgenes.org/rarefacts/ RARE facts]
== References  ==
== References  ==


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[[Category:Bellarmine_Student_Project]]
[[Category:Bellarmine_Student_Project]]
[[Category:Cerebral_Palsy]]
[[Category:Cerebral_Palsy]]
[[Category:Paediatrics]]
[[Category:Resources - Paediatrics]]

Latest revision as of 12:21, 1 April 2020

Original Editor - Alicia Dupilka

Top Contributors - Alicia Dupilka, Elaine Lonnemann, Kim Jackson, Leana Louw, WikiSysop, Admin and Scott Buxton   


Introduction[edit | edit source]

This page contains resources for physiotherapists and families relating to rare conditions diagnosed within the pediatric population.                                                                                              

Autism Spectrum Disorder and Autism Autism ribbon.png[edit | edit source]

Definition[edit | edit source]

Group of complex disorders of the brain. Varying degrees of characteristics including: difficulties in social interaction, verbal and nonverbal communication and repetitive behaviors[1].

  • Autism Spectrum Disorder (ASD): can display with intellectual disabilities, difficulties in coordination and attention and physical health issues.
  • Autism: most obvious signs and symptoms tend to emerge between 2 and 3 years old

How Common Are Autism And ASD? [edit | edit source]

  • ASD: Affects over 2 million individuals in the United States
  • Autism:
    • Effects ~1:88 children
    • ~4-5 more times likely in boys than girls
    • An estimated 1 out of 54 boys and 1 in 252 girls are diagnosed in the United States

Causes[edit | edit source]

  • No one cause
  • Rare gene changes Most cases are a combination of gene changes and environmental factor
  • Risk factors (do not cause autism by themselves, but could have an influence when combined with genetic risk factors):
    • Clearest evidence involve events before and during birth
    • Advance age at conception
    • Maternal illness during pregnancy
    • Difficulties during birth (i.e. Oxygen deprivation)
  • Genetic risk factors (Autism tends to happen more frequently in the following conditions)[2]
    • Fragile X Syndrome
    • Tuberous sclerosis
    • Congenital rubella syndrome
    • Untreated phenylketonuria (PKU)

How is ASD/Autism Diagnosed?[edit | edit source]

  • No specific medical test
  • Administer autism-specific behavioural evaluations
  • Parents usually notice:
    • Failure to make eye contact
    • Not responding to their name
    • Playing with toys in unusual or repetitive ways
    • Other signs
  • The Modified Checklist of Autism in Toddlers:
    • List of informative questions about child
    • Answers can indicate whether further evaluation by a specialist is needed

            Eac-block.jpg

  • Typical diagnosis involves a multidisciplinary team
  • Genetic testing may be recommended

Resources for Autism[edit | edit source]

Kentucky Autism Training Center

Autism Society of Kentuckiana

Autism Speaks

  • Has information on current news and research, family services and events around the United States
  • There is also a blog available; as well as ideas for autism apps

National Institute of Neurological Disorders and Stroke

Autism Research Institute

Autism Society

  • Has news, research and ways to get involved
  • Section about living with Autism

Cerebral Palsy (CP) Cerebral-palsy-awareness-ribbon.jpg.png[edit | edit source]

Definition[edit | edit source]

Cerebral Palsy describes a disorder of movement, muscle tone or posture that is caused by injury or abnormal development in the immature brain.[3]

How Common is CP? [4][edit | edit source]

  • Usually not diagnosed until the age of 2 or 3
  • ~2-3:1,000 children over the age of three have the condition
  • ~500,000 children and adults have CP in the United States

Types[4][edit | edit source]

  • Spastic:
    • ~70-80% of cases
    • Associated with stiff muscles, making movement difficult
    • Spastic diplegia:
      • Both legs are affected
      • Causes tight muscles in the hips and legs
      • Inward turned legs leading to crossed knees (scissoring)

                                 Diplegic cp.png

    • Spastic hemiplegia:
      • One side of the body affected
      • Arm often more affected than the leg

                           Hemiplegic CP.png

    • Spastic quadriplegia:
      • Most severe
      • All four limbs and the trunk are affected
      • Often also affect muscle of tongue and mouth

                   Quad cp.png

  • Athetoid or Dyskinetic:
    • 10-20% of cases
    • Affects entire body
    • Fluctuations in muscle tone
    • Uncontrolled movements
    • Difficulty with:
      • Learning to control body
      • Sucking
      • Swallowing
      • Speech
  • Ataxic
    • 5-10% of cases
    • Affects balance and coordination:
      • Unsteady gait
      • Difficulty with motions that require precise coordination

Causes[3][edit | edit source]

  • Abnormality or disruption in brain development
  • Random mutations in genes
  • Infections of the mother that would affect the developing baby
  • Disruption of blood supply to the developing brain
  • Lack of oxygen to the baby’s brain
  • Infant infections leading to inflammation around the brain
  • Traumatic head injury

Risk Factors[3][edit | edit source]

  • Mother’s health:
    • Certain infections or health problems significantly increase the chance to giving birth to a baby with CP:
  • Infant’s health:
    • Certain illnesses in a newborn significantly increase the chance of the baby developing CP:
      • Bacterial meningitis
      • Severe or untreated jaundice (yellowing of the skin)
      • Viral encephalitis
  • Other factors:
    • Premature birth
    • Low birth weight
    • Breech births
    • Multiple babies

How is CP Diagnosed?[3][edit | edit source]

  • Signs and symptoms usually appear during infancy or preschool years:
    • Impaired movement associated with:
  • Brain scans:
    • MRI: usually the preferred test to use, will usually be given a mild sedative to remain still
    • Cranial ultrasound: can provide a preliminary assessment, placed over the soft spot (fontanel) of the baby’s head
    • CT scan: will likely be given a mild sedative to remain still
  • Electroencephalogram (EEG):
    • Done if the child has a history of seizures
    • Records the electrical activity of the brain
    • Used to determine if child has epilepsy
  • Lab tests:
    • Blood is checked to rule out other conditions
    • May also screen for metabolic or genetic problems
  • Additional tests:
    • If diagnosed with CP, may go through these other tests to screen for other associated conditions:
      • Vision impairment
      • Hearing impairment
      • Speech delays or impairments
      • Intellectual disabilities or mental retardation
      • Other developmental delays

Resources for Cerebral Palsy[edit | edit source]

MyChild™:

  • Their mission: “to provide you with the most comprehensive resource and compassionate voice for all things related to caring for a child with cerebral palsy, and other neurological conditions. We strive, everyday, to be your ULTIMATE Resource for EVERYTHING Cerebral Palsy.”

Cerebral Palsy Resources

Mattingly Center, Inc.

  • Cerebral Palsy School of Louisville, Inc.
  • Their mission “To provide the highest quality of structured day services for adults with severe developmental disabilities.”

 Down Syndrome Down.syndrome.ribbon.magnet.jpg[edit | edit source]

Definition[edit | edit source]

Down's Syndrome is a 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.[5]

How Common is Down's Syndrome?[edit | edit source]

  • 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[edit | edit source]

  • Trisomy 21 (Nondisjunction):
    • The pair of the 21st chromosome fails to separate
    • Extra chromosome is replicated in every cell in the body
    • Accounts for ~95% of cases

          Nondisjunction Cell Division.jpg

    • Mosaicism:
      • Nondisjunction takes place in chromosome 21 in one cell but not all cells
      • Accounts for ~1% of cases
      • May have fewer characteristics than other types of Down’s Syndrome

         Mosaicism.jpg

    • Translocation:
      • Part of chromosome 21 breaks off during cell division and attaches to another chromosome, typically chromosome 14
      • Accounts for ~4% of cases

Causes[edit | edit source]

  • Cause of non-disjunction is currently unknown:
    • Research suggests the likelihood increases as women age
    • No definitive research suggesting environmental factors of the parents before or during pregnancy

          Maternal Age Chart2.png

    • Note: Age 34 is not accurate. NDSS has noted the error but has yet to find out the correct information.

How is Down’s Syndrome Diagnosed?[edit | edit source]

Prenatally

  • Screening tests:
    • Most only provide a probability
    • Blood test: measures quantities of various substances in the mother’s blood
    • Ultrasound: checks for “markers”
    • 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

  • 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
  • Chromosomal analysis may also need to be done to confirm the diagnosis:
    • This is done by drawing a sample of the baby’s blood

Resources for Down Syndrome[edit | edit source]

Down Syndrome of Louisville

  • Lifelong learning center for individuals with Down Syndrome
  • National Down Syndrome Society
    • Information about Down Syndrome
    • Lists resources including:
      • Publications
      • Managing behavior
      • Research
      • And more!

National Association for Down Syndrome

Real Life Down Syndrome

Kentucky Parent Support Groups

  • Lists support groups by county

Activities and Equipment Sites for the Pediatric Population[edit | edit source]

Below are websites for you to look around for fun activities to enjoy outside of therapy sessions:


Below is a list of equipment sites for you to look around:

Resources[edit | edit source]

            Kosair.jpg

Kosair Childrens Hospital

  • Look into conditions and services
  • Find a doctor
  • See current news
  • Visit their health library


Pediatric Leukemias

  • The Children’s Hospital of Philadelphia
  • In depth resource of pediatric leukemias
                                            Logo.gif

Pediatric Rheumatology

Multiple Sclerosis Foundation


Failure to Thrive

National Organization for Rare Diseases


The Global Genes Project

References[edit | edit source]

  1. ↑ Autism Speaks. It's Time to Listen. Available from:http://www.autismspeaks.org/ (accessed 27/06/2013).
  2. ↑ Autism Society. Improving the Lives of All Affected by Autism. Available from: http://www.autism-society.org/ (Accessed 27/06/2013).
  3. ↑ 3.0 3.1 3.2 3.3 Mayo Clinic. Cerebral Palsy. Available from:http://www.mayoclinic.com/health/cerebral-palsy/DS00302/DSECTION=complications (accessed 30/06/2013).
  4. ↑ 4.0 4.1 American Pregnancy Association: Promoting Pregnancy Wellness. Cerebral Palsy. United Cerebral Palsy. Available from:http://americanpregnancy.org/birthdefects/cerebralpalsy.htm (accessed 30/06/2013).
  5. ↑ 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.

 

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