Pediatric Patient Resources

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

Autism Spectrum Disorder and Autism 

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)
          o Fragile X Syndrome
          o Tuberous sclerosis
          o Congenital rubella syndrome
          o Untreated phenylketonuria (PKU)

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/

Down Syndrome   

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

          

     • 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

          

• 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