Pediatric Patient Resources

Original Editor - Alicia Dupilka

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

Introduction

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

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 Are Autism And ASD? 

• 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

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

How is ASD/Autism Diagnosed?

• 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

           

• • Screening tool

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

Resources for Autism

Kentucky Autism Training Center

• Find specific services by region or county
• Examples of services include: hippo therapy, social skills group, community living supports and day care

Autism Society of Kentuckiana

• Become a member
• Find resources, learn about news and events
• Offers an autism dad’s group

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

• Fact sheet on ASD and Autism

Autism Research Institute

• Find out about current research
• http://www.autism.com/

Autism Society

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

Cerebral Palsy (CP) 

Definition

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

How Common is CP? 

• 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

• 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)

                                

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

                          

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

                  

• 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

• 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

• Mother’s health:
  • Certain infections or health problems significantly increase the chance to giving birth to a baby with CP:
    • Rubella
    • Syphilis
    • Chickenpox
    • Other conditions

• 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?

• Signs and symptoms usually appear during infancy or preschool years:
  • Impaired movement associated with:
    • Exaggerated reflexes or rigidity of the limbs and trunk
    • Abnormal posture
    • Involuntary movements
    • Unsteadiness of walking
    • Combination of these
    • Other signs and symptoms

• 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

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 

Definition

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.

How Common is Down's 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):
  • The pair of the 21st chromosome fails to separate
  • Extra chromosome is replicated in every cell in the body
  • Accounts for ~95% of cases

          

• • 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

         

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

Causes

• 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

          

• • 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

• 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

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

• Programs
• Resources and information
  

Real Life Down Syndrome

• Blog spot
• Gives insight on how to raise a child with DS
• Search resources by state
  

Kentucky Parent Support Groups

• Lists support groups by county

Activities and Equipment Sites for the Pediatric Population

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

• PediaStaff
• Your Therapy Source
• Starfish Therapies

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

• Equipment Shop
• Cascade
• Therapy Shoppe
• Flaghouse
• Rifton
• Adaptive Mall
• Abilitations
• Fun and Function
• Yellow Brick Road Shop
• eSpecial Needs

Resources

            

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
                                         

Pediatric Rheumatology

• Review of childhood sarcoidosis
                                               

Multiple Sclerosis Foundation

• Insight on pediatric MS
• Coping with MS

Failure to Thrive

• Clinical key by Elsevier
• In depth overview of diagnosis
  

National Organization for Rare Diseases

• Search the rare disease database and download the free report

The Global Genes Project

• Learn what they are about
• Get involved
• Resources available:
  • Search their RARE list
  • Search their RARE facts