Pediatric Patient Resources

Top Contributors - Alicia Dupilka 

Original Editors - Alicia Dupilka, Elaine Lonnemann, Kim Jackson, Leana Louw, WikiSysop, Admin and Scott Buxton





Resources for Physical Therapists and the Families of the Pediatric Population
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This section is dedicated to the rare conditions diagnosed in the pediatric population.                                                                                                           Kosair.jpg

Kosair Childrens Hospital
     • Look into conditions and services
     • Find a doctor
     • See current news
     • Visit their health library
     • http://www.kosairchildrens.com/


Pediatric Leukemias
     • The Children’s Hospital of Philadelphia
     • In depth resource of pediatric leukemias
     • http://www.chop.edu/service/oncology/cancers-explained/leukemia-diagnosis-and-treatment.html


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Pediatric Rheumatology
     • Review of childhood sarcoidosis
     • http://www.ped-rheum.com/content/6/1/16


                                              Msf.jpg

Multiple Sclerosis Foundation
     • Insight on pediatric MS
     • Coping with MS
     • http://www.msfocus.org/article-details.aspx?articleID=374


Failure to Thrive
     • Clinical key by Elsevier
     • In depth overview of diagnosis
     • https://www.clinicalkey.com/topics/pediatrics/failure-to-thrive.html


National Organization for Rare Diseases
     • Search the rare disease database and download the free report
     • http://www.rarediseases.org/rare-disease-information/rare-diseases


The Global Genes Project
     • Learn what they are about
     • Get involved
     • Resources available
          o Search their RARE list at http://globalgenes.org/rarelist/
          o Search their RARE facts at http://globalgenes.org/rarefacts/
     • http://globalgenes.org/

Autism Spectrum Disorder and Autism[1] Autism ribbon.png[edit | edit source]

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: most obvious signs and symptoms tend to emerge between 2 and 3 years old


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


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


How is ASD/Autism diagnosed?
     • No specific medical test
     • Administer autism-specific behavioral evaluations
     • Parents usually notice:
          o Failure to make eye contact
          o Not responding to their name
          o Playing with toys in unusual or repetitive ways
          o Other signs visit http://www.autismspeaks.org/what-autism/learn-signs
     • The Modified Checklist of Autism in Toddlers
          o List of informative questions about child
          o Answers can indicate whether further evaluation by a specialist is needed

            Eac-block.jpg
          o Utilize this screening tool at www.autismspeaks.org/what-autism/diagnosis/screen-your-child
     • Typical diagnosis involves a multidisciplinary team
     • Genetic testing may be recommended


Resources

     • Kentucky Autism Training Center
          o Find specific services by region or county
          o Examples of services include: hippo therapy, social skills group, community living supports and day care
          o http://katcproviders.louisville.edu/


     • Autism Society of Kentuckiana
          o Become a memerb
          o Find resources, learn about news and events
          o Offers an autism dad’s group
          o http://www.ask-lou.org/


     • Autism Speaks
          o Has information on current news and research, family services and events around the United States
          o There is also a blog available; as well as ideas for autism apps
          o http://www.autismspeaks.org/?utm_source=autismspeaks.org&utm_medium=web&utm_campaign=primarymenu


     • National Institute of Neurological Disorders and Stroke
          o Fact sheet on ASD and Autism
          o http://www.ninds.nih.gov/disorders/autism/detail_autism.htm


     • Autism Research Institute
          o Find out about current research
          o http://www.autism.com/


     • Autism Society
          o Has news, research and ways to get involved
          o Section about living with Autism
          o http://www.autism-society.org/



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

Definition: 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]


     • 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]


     • Spastic
          o ~70-80% of cases
          o Associated with stiff muscles, making movement difficult
          o 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
          o Spastic hemiplegia
                One side of the body affected
                Arm often more affected than the leg

                           Hemiplegic CP.png
          o 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
          o 10-20% of cases
          o Affects entire body
          o Fluctuations in muscle tone
          o Uncontrolled movements
          o Difficulty with
                Learning to control body
                Sucking
                Swallowing
                Speech

     • Ataxic
          o 5-10% of cases
          o Affects balance and coordination
                Unsteady gait
                Difficulty with motions that require precise coordination


Causes[3]


     • 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]


     • Mother’s health
          o Certain infections or health problems significantly increase the chance to giving birth to a baby with CP
                Rubella
                Syphilis
                Chickenpox
                Other conditions can be found at http://www.mayoclinic.com/health/cerebral-palsy/DS00302/DSECTION=risk-factors


     • Infant’s health
          o 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
          o Premature birth
          o Low birth weight
          o Breech births
          o Multiple babies


How is CP diagnosed?[3]


     • Signs and symptoms usually appear during infancy or preschool years
          o Impaired movement associated with:
                Exaggerated reflexes or rigidity of the limbs and trunk
                Abnormal posture
                Involuntary movements
                Unsteadiness of walking
                Combination of these
          o Other signs and symptoms can be viewed at http://www.mayoclinic.com/health/cerebral-palsy/DS00302/DSECTION=symptoms

     • Brain scans
          o MRI: usually the preferred test to use, will usually be given a mild sedative to remain still
          o Cranial ultrasound: can provide a preliminary assessment, placed over the soft spot (fontanel) of the baby’s head
          o CT scan: will likely be given a mild sedative to remain still

     • Electroencephalogram (EEG)
          o Done if the child has a history of seizures
          o Records the electrical activity of the brain
          o Used to determine if child has epilepsy

     • Lab tests
          o Blood is checked to rule out other conditions
          o May also screen for metabolic or genetic problems

     • Additional tests
          o 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

      • MyChild™
          o 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.”
          o http://cerebralpalsy.org/


      • Cerebral Palsy Resources
          o http://cerebralpalsyresources.com/kentucky

   

       • Mattingly Center, Inc.
          o Cerebral Palsy School of Louisville, Inc.
          o Their mission “To provide the highest quality of structured day services for adults with severe developmental disabilities.”
          o http://www.mattinglycenter.org/aboutus.html

   



Down Syndrome [5]  Down.syndrome.ribbon.magnet.jpg[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 Down Syndrome?


     • 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

          Nondisjunction Cell Division.jpg

     • 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

         Mosaicism.jpg

     • 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

          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?


     • 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


Resources
 

     • Down Syndrome of Louisville
          o Lifelong learning center for individuals with DS
          o http://www.downsyndromeoflouisville.org/
    

     • National Down Syndrome Society
          o Information about Down Syndrome
          o Lists resources including:
                 Publications
                Managing behavior
                Research
                And more!
          o http://www.ndss.org/Resources/

     • National Association for Down Syndrome
          o Programs
          o Resources and information
          o http://www.nads.org/pages_new/resources.html

     • Real Life Down Syndrome
          o Blog spot
          o Gives insight on how to raise a child with DS
          o Search resources by state
          o http://reallifedownsyndrome-resources.blogspot.com/

     • Kentucky Parent Support Groups
          o Lists support groups by county
          o http://dbhdid.ky.gov/dbh/files/oflsecb.pdf

Recent Related Research for Autism (from Pubmed)[edit | edit source]

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Recent Related Research for Cerebral Palsy (from Pubmed)[edit | edit source]

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Recent Related Research for Down Syndrome (from Pubmed)[edit | edit source]

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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.

References[edit | edit source]

  1. Autism Speaks. It's Time to Listen. Autism Speaks. http://www.autismspeaks.org/. Accessed June 27, 2013.
  2. Autism Society. Improving the Lives of All Affected by Autism. Autism Society. http://www.autism-society.org/. Accessed June 27, 2013.
  3. 3.0 3.1 3.2 3.3 Mayo Clinic. Cerebral Palsy. Mayo Clinic Staff. http://www.mayoclinic.com/health/cerebral-palsy/DS00302/DSECTION=complications. Accessed 06/30/2013.
  4. 4.0 4.1 American Pregnancy Association: Promoting Pregnancy Wellness. Cerebral Palsy. United Cerebral Palsy. http://americanpregnancy.org/birthdefects/cerebralpalsy.htm. Updated 03/2006. Accessed 06/30/2013.
  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.