Every youngster who comes to you with a mobility need has a specific and special diagnosis — and undoubtedly, a personal, unique story. But we hope this “primer” will provide valuable background information on a range of pediatric medical conditions that affect seating and mobility. We also list sources of additional information for you, your clients and their caregivers (we do not intend this primer to provide medical advice or suggest diagnoses or treatments).
In this primer we use “pediatric” to describe mobility/rehab clients from birth through age 22 years (since virtually all health-care funding sources and mobility programs agree that after age 22, the beneficiary is an adult). We define “childhood” as being from birth up to age 10, and “adolescence” as being from age 11 to age 22.
Our first pediatric primer focuses on conditions usually discovered and/or diagnosed in childhood, rather than on conditions that can also be incurred by adults.
Defining Symptoms: Partial or complete absence of the corpus callosum, the portion of the brain between the left and right sides that enables the hemispheres to communicate with each other. Also: seizures/spasms, lesions of the retina, and other types of brain defects. Occurs only in girls and very rarely in boys with Klinefelter Syndrome (XXY chromosomes). Developmental delays are very common. Children with Aicardi Syndrome can also experience digestive tract difficulties and respiratory problems, for instance from aspirating during or after eating. Pneumonia is a common complication.
Frequency of condition: Approximately 300 to 500 cases currently known worldwide.
When Symptoms Appear: Diagnosed in infancy.
General Prognosis & Treatments: There is no cure. Treatments involve managing seizures and educational programs related to developmental delays. General prognoses vary from patient to patient.
How Mobility Is Affected: Some children with Aicardi Syndrome learn to walk independently or with support, but most do not. Depending on cognitive, visual and other capabilities, Aicardi Syndrome patients who cannot ambulate may be able to drive power wheelchairs or may use manual wheelchairs.
Alternating Hemiplegia of Childhood (AHC)
Defining Symptoms: This neurological condition produces transient attacks of paralysis (ranging from numbness to full loss of feeling and movement) on one or both sides of the body. Paralysis may last briefly or for days, and is usually relieved by sleeping. Initial epilepsy or seizure diagnoses are common with children eventually diagnosed with AHC.
Frequency of condition: Approximately 250 children worldwide are thought to have AHC.
When Symptoms Appear: Usually by 18 months.
General Prognosis & Treatments: There is no known cause or cure for AHC. Medication can lessen AHC’s effects. Because AHC is a newly diagnosed condition, the general prognosis for children with alternating hemiplegia is not yet fully known, but the Alternating Hemiplegia of Childhood Foundation (AHCF) says, “There is no proof that the disease is fatal or shortens life expectancy in any way… there is developing evidence that AHC may cause ongoing mental and neurological deficits with a progressive course… there is no evidence to suggest that a child will be cured simply as they age.”
How Mobility Is Affected: The National Institute of Neurological Disorders & Stroke says children with more severe AHC continue to have balance and gait problems and over time lose the ability to independently ambulate.
Sources & Resources: Alternating Hemiplegia of Childhood Foundation (AHCF) (www.ahckids.org); National Institute of Neurological Disorders & Stroke (www.ninds.nih.gov/disorders/alternatinghemiplegia.htm)
Ataxia Telangiectasia (AT)
Defining Symptoms: Lack of muscle control (ataxia) is caused by degeneration of the cerebellum in the brain. Children with AT also exhibit telangiectasia — red lesions or “spider veins” — in the corners of their eyes and on portions of their faces exposed to the sun. Their immune systems are also impacted.
Frequency of condition: Approximately 1 in 40,000 in live births, though researchers believe many very young children with AT die without being diagnosed.
When Symptoms Appear: In infancy or early childhood.
General Prognosis & Treatments: There is no cure. AT is progressive, with children typically using wheelchairs for mobility by late childhood. Compromised immune systems make children with AT more vulnerable to respiratory infections and, researchers say, nearly 1,000 times more likely to develop cancer. Patients with AT usually die of respiratory ailments or cancer by their early 20s.
How Mobility Is Affected: Early symptoms may include uncontrolled swaying of the head and trunk. Walking and balance become unsteady due to lack of muscle control. Speaking and writing become more difficult as loss of muscle control progresses.
Formerly called Early Infantile Autism. A milder form is called Asperger Syndrome. Other forms: Autistic Disorder and Pervasive Developmental Disorder (PDD).
Defining Symptoms: Impaired communication and social skills; repetitive patterns of behavior.
Frequency of condition: 3.4 of every 1,000 children ages 3-10 years, according to the National Institutes of Mental Health (NIMH). Other sources cite greater frequency.
When Symptoms Appear: Commonly, diagnosis is made when the child is between 18 months and 3 years. However, the National Institutes of Health say only 50 percent of autistic children are diagnosed before entering kindergarten.
General Prognosis & Treatments: Early intervention is considered critical in treating autism. Educational and treatment programs vary widely in methodology; many treatments seek to improve communication skills and reward positive behaviors while seeking to reduce unwanted behaviors. Medications may be prescribed to try to reduce aggressive or other problematic behaviors.
How Mobility Is Affected: In some forms of autism or autistic-like conditions, mobility — particularly, the ability to walk safely and efficiently — is directly affected. That’s the case with Rett Syndrome, and also in some other forms of autism accompanied by developmental delays. Children with other forms of autism can often walk and run with abandon. In fact, because autistic children often have difficulty communicating and following directions, wandering and getting lost can be a grave concern for parents and caregivers. In those cases, attendant-controlled wheelchairs and strollers can enable autistic children to more safely enjoy the outdoors while parents and caregivers worry less.
Becker Muscular Dystrophy
Defining Symptoms: Like other types of muscular dystrophy, including the more severe Duchenne’s, Becker MD causes progressive muscle weakness and is hereditary.
Frequency of condition: Approximately 1 in 30,000 live male births (nearly all Becker patients are male).
When Symptoms Appear: Usually during early adolescence, though some patients are diagnosed in late childhood or early adulthood.
General Prognosis & Treatments: There is no cure. Becker MD progresses more slowly than Duchenne muscular dystrophy; wheelchair use is common by age 30, but some patients with Becker MD use only canes or walkers.
How Mobility Is Affected: Symptoms are similar to those seen in Duchenne MD, but are less severe and appear much later in life. Older boys or young men with Becker MD typically notice weakness or loss of balance when walking, develop the “waddling” gait seen among young children with Duchenne MD, and begin walking on their toes or with their abdomens pushed forward to compensate for weakening pelvic, thigh and hip muscles. Other symptoms can include contractures (fixations of joints) and cardiomyopathy (heart muscle weakness). An “arbitrary” test of determining whether a child has Becker vs. Duchenne MD is whether he can still walk independently at age 16, according to the Muscular Dystrophy Association. Web MD says most Becker MD patients are still ambulatory through their teens.
Cerebral Palsy (CP)
Defining Symptoms: A permanent brain injury causes muscle weakness and poor control of movement. There are four major groupings of CP: Spastic (the most common form, patients have increased muscle tone resulting in muscle stiffness); Athetoid/Dyskinetic (involuntary and uncontrolled movements affecting the entire body); Ataxic (disturbances of balance, coordination and depth perception, and sometimes intention tremor); and Mixed Forms (a combination of CP types). Developmental delays affect 35-40 percent of the total number of CP patients. Other symptoms can include seizures, tremors and vision, hearing or speech impairments.
Frequency of condition: An estimated 764,000 children and adults in the United States have CP, according to United Cerebral Palsy.
When Symptoms Appear: Diagnoses usually occur within the first 18 months of life, when developmental milestones such as sitting, crawling and walking are delayed.
General Prognosis & Treatments: There is no cure for CP, but with quality care and proper assessments, patients with CP are generally expected to have normal lifespans. CP is not progressive. Treatments to improve symptoms include medications and surgery to control seizures and muscle spasms.
How Mobility Is Affected: General muscle control difficulties and weaknesses can affect gait and walking, sitting and seating positions and balance. CP can also make self-help skills, such as feeding and toileting, more difficult.
Sources & Resources: Children’s Hemiplegia & Stroke Association (CHASA) (www.hemi-kids.org); Mobility Management September 2005 issue (www.mobilitymgmt.com); National Institute of Neurological Disorders & Stroke (www.ninds.nih.gov/disorders/cerebral_palsy/cerebral_palsy.htm); United Cerebral Palsy (www.ucp.org)
Duchenne Muscular Dystrophy
Defining Symptoms: Like other types of muscular dystrophy, Duchenne MD is characterized by progressive muscle weakness. Virtually all children diagnosed with Duchenne MD are male. The genetic defect that causes Duchenne MD is also responsible for causing Becker Muscular Dystrophy, which has similar, but less severe, symptoms.
Frequency of condition: Approximately 1 in 3,500 live male births.
When Symptoms Appear: Patients are usually diagnosed as toddlers, unless a family history of muscular dystrophy is known beforehand. Duchenne MD is often discovered once children learn to walk, but parents notice frequent falls or difficulty getting back up after a fall. Children with Duchenne MD also have a higher likelihood of developmental delays than children without the condition.
General Prognosis & Treatments: There is no cure, though physical therapy may help to slow the progression of symptoms. Most boys with Duchenne MD use wheelchairs for most or all of their mobility by late childhood or early adolescence. Patients often have respiratory and heart problems as well, which affect life expectancy. Due to improving respiratory and general health care, many Duchenne MD patients now survive into their early 20s, with a small number reaching age 30 or older.
How Mobility Is Affected: Boys with Duchenne MD generally learn to walk later than unaffected counterparts, and have balance difficulties. Other mobility-related symptoms include scoliosis and/or lordosis (forward curve of the lower back); standing and walking on the front part of the feet with heels off the ground; problems with joints (contractures), starting with the hips and knees, but eventually affecting the arms as well; and a “waddling” gait when walking.
Fibrodysplasia Ossificans Progressiva (FOP)
Also known as Myositis Ossificans Progressiva.
Defining Symptoms: Connective tissues, such as ligaments, muscles and tendons, gradually turn to bone, usually first in the upper body (neck, back and shoulders), then the lower body (trunk, hips, limbs). Fibrous nodules appear first and later turn into bone.
Frequency of condition: Estimated at one person in two million; about 600 current cases of FOP are known worldwide.
When Symptoms Appear: Children with FOP are born with malformed big toes, but otherwise do not exhibit symptoms. The fibrous nodules that become bone appear during childhood and into adolescence.
General Prognosis: Progressive, though rate of bone growth varies among children with the condition, and varies during a child’s life.
Treatments: There is no known cure or effective treatment to slow or stop new bone growth. Removing the excess bone causes new bone to grow back at an accelerated rate. Even minor injuries or physical traumas (bruises, injections, etc.) can also accelerate new bone growth. Physicians may prescribe medication to relieve pain during new bone growth periods.
How Mobility Is Affected: Patients with FOP gradually develop a secondary skeleton. Breathing can become difficult if the neck, ribs or chest become immobilized. Arms and legs can become locked in place.
Recent Developments: In April 2006, researchers at the University of Pennsylvania School of Medicine announced they had isolated a “skeleton key, a gene that, when damaged, causes the body’s skeletal muscles and soft connective tissue to undergo a metamorphosis into bone, progressively locking joints in place and rendering movement impossible.”
Osteogenesis Imperfecta (OI)
Also called Brittle Bone Disease.
Defining Symptoms: Bones break easily despite little or no trauma; the disorder is genetic. There are four forms of OI, differing in severity. Type II is the most severe form, followed by Type III, Type IV and Type I (the most common and mildest form).
Frequency of condition: The Osteogenesis Imperfecta Foundation (OIF) estimates there are 20,000-50,000 OI patients in the United States.
When Symptoms Appear: Fractures may be present at birth in some of the more severe forms. Deaths from Type II OI are common at or shortly after birth, according to OIF. Other symptoms can include bone deformities, small stature, poor muscle development in arms and legs, scoliosis, respiratory problems, loose joints, barrel-shaped ribcages and brittle teeth.
General Prognosis & Treatments: OI patients (except for Type II) have normal life expectancies, though there is no cure. The focus is on early diagnosis and treatment to ease symptoms and prevent complications, according to the University of Washington (Seattle) School of Orthopaedics & Sports Medicine.
How Mobility Is Affected: Poor muscle development, frequent fractures, bone deformities and problems with joints can make wheelchairs and other mobility equipment helpful.
Medtrade Learning Opportunities
Thursday, Sept. 21
Early Intervention? Why Bother?
Ginny Paleg, Leckey
Early intervention (age 0-3 years) is an evidence-based practice. The research reviewed will demonstrate how early positioning and mobility enhances brain development and cognition. Case studies will demonstrate the consequences of poor and/or unsupported posture during these early months and years.
Thursday, Sept. 21
Power Mobility Solutions for Children
Cody Verrett, Pride Mobility Products
An overview to pediatric power mobility choices that exist in today’s market from an unbiased perspective. Utilizing a clinical framework to the evaluation and decision-making process the attendee will learn different solutions so the family, clinician and provider can determine appropriate mobility equipment solutions for children with disabilities. Included will be traditional power mobility choices such as front-wheel drive, mid-wheel drive and rear-wheel drive power chairs, as well as non-traditional solutions, such as manual/power hybrids.