Teaching Children and Adults with Rare Diseases

February 28th is the official day of bringing awareness to rare diseases. According to the National Institutes of Health, in the United States, a rare disease is defined as a condition that affects fewer than 200,000 people. Definition of rare disease vary from country to county. In Europe affect 1in 2,000 people and in Canada, more than 3.5 million or 10percent of the population are diagnosed with a rare disease.

Facts You Should Know About Rare Diseases

  • There are over 300 million people living with one or more of over 6,000 identified rare diseases around the world
  • Each rare disease may only affect a handful of people but taken together directly affected is equivalent to the population of the world’s third largest country.
  • rare diseases currently affect 3.5%-5.9% of the worldwide population.
  • 72% of rare diseases are genetic while others are the result of infections.(bacterial or viral).
  • 70% of those genetic diseases start in childhood
  • About 30 million people or 1 in 10 people in the United States are affected by a rare disease
  • 95% of rare diseases do not have FDA-approval treatment.

Most children diagnosed with rare diseases are more than likely to also exhibit some form of learning disabilities including intellectual disabilities, developmental delays, speech and motor issues. Also, you may find in addition to an intellectual disabilities, students may also have medical issues including epilepsy and ongoing medical concerns.

While it is impossible to know and remember all of the signs and symptoms of rare diseases, the key is to teaching students based on their level of development. The following are useful teaching strategies when teaching students diagnosed with a rare disease:

  1. Teaching should include using multisensory teaching strategies by engaging students on multiple levels by encouraging students to use their senses. This is done by utilizing learning that includes visual (text, pictures, flash cards), auditory (music, songs),tactile (textured items, clay), kinesthetic (games, movement activities), taste ( cooking activities).
  2. Use concrete items and give examples
  3. Use hands on material as much as possible
  4. Break longer, new task into smaller task. Use task analysis.
  5. In some instances, children may have tactile and sensory issues.Signs include over and under reacting to pain, avoiding messy textures, picky eaters, and reacting to loud and sudden noises. Strategies include using a sensory diet and create activities using play doh or silly putty.

The following are articles and links to further information on rare diseases found in this blog:

Aicardi Syndrome– A rare genetic disorder that occurs in 1 in 105,000 to 167,000 newborns in the United states and occurs exclusively in females. People with Aicardi Syndrome often have undeveloped tissue which connects the left and right halves of the brain.

Angelman Syndrome– A genetic disorder that affects the nervous system. Characteristics include developmental delays, intellectual disabilities and speech impairments.

Chromosome 22q11.2 (DiGeorge Syndrome)- a rare disorder that is caused by deletion in chromosome 22 located specifically in the middle of the chromosome in the area. It affects 1 out of 4,000 births. Symptoms include developmental delays, poor muscle tone, learning development and feeding issues.

Cri Du Chat– A rare genetic disorder that results when a piece of the 5p Chromosome is deleted. Characteristics include intellectual disability, hyperactivity, and developmental delay.

Dravet Syndrome– A rare form of epilepsy found in children. Symptoms include developmental delays, sleeping conditions, and chronic infections.

Duchenne Muscular– Occurs in 1 out of 3,600 male infants and is characterized by progressive muscle degeneration. early signs include muscle weakness in the hips, pelvic area, thighs and shoulder affecting delayed motor skills, sitting and walking.

Landau Kleffner– Characterized by the gradual or sudden loss of language in children between the ages of 5 and 7.

Lowe Syndrome– Is a rare genetic disorder that affects the eyes, brain and kidneys. It has a prevalence of 1 in 500,000 and mainly affects males.

Prader Willi– A genetic disorder resulting from an abnormality of chromosome 15. It is found in 1 in 20,000 births affecting both sexes. It is also the most common recognized genetic form of obesity.

Rett Syndrome– A neurodevelopmental disorder occurring mostly in females in which the child exhibits reduce muscle tone, and autistic-like behaviors including hand movements consisting of wringing and waving. It is a rare disorder that affects about 1 out of 10,000 children.

Williams Syndrome– A rare disorder with a prevalence of 1 in 7,500 to 20,000 caused by the deletion of genetic material from chromosome 7. Signs and symptoms include moderate intellectual disabilities and learning disabilities.

 

What is Prader Willi Syndrome?

May is Prader Willi Syndrome Awareness Month

Click here to download PDF version

What Exactly is Prader Willi Syndrome?

Prader Will Syndrome is a genetic disorder resulting from an abnormality of chromosome 15 such as a loss of active genes. In most cases (70%) the paternal copy is missing and in some cases (25%), will exhibit two maternal copies of Chromosome 15. The genetic disorder was initially described by John Langdon Down and was named after Drs. Andrea Prader, Heimrich Willi and Alexis Labhart in 1956 and is found in 1 in 20,000 births affecting both sexes. It is also the most common recognized genetic form of obesity.

During childhood, individuals diagnosed with Prader-Willi Syndrome tend to eat constantly leading to obesity and for some, type 2 diabetes will develop. This complex disorder affects appetite,growth, metabolism, cognitive functioning and behavior.

Signs and Symptoms

People with Prader-Willi Syndrome (PWS) tend to never feel full (hyperphagia) which leads to constant eating. Signs in infants include, problems with strength, coordination and balance. Often there are feeding problems at birth, delayed speech and gross motor development. Children may be born with almond-shaped eyes and undeveloped sexual organs. Cognitive disabilities and developmental delays may also be present.

As children began to grow, constant craving for food often leads to behavior challenges including hoarding food, eating frozen food and food left in the garbage causing controlling or manipulative behavior.

Medical Issues

Medical concerns may include the following:

  • Sleep Apnea
  • Respiratory/Breathing
  • High pain tolerance
  • Severe stomach illness
  • Difficulty with vomiting reflex
  • Excessive appetite
  • Binge eating
  • Eye problems
  • Choking
  • Hypothermia
  • Leg Swelling
  • Consuming unsafe items
  • Negative reactions to medications
Teaching Strategies

Most people diagnosed with Prader Willi Syndrome fall between the moderate and mild levels of an intellectual disability meaning there may be challenges in the area of reasoning, problem-solving, planning, judgment, abstract thinking and learning.  A child or student functioning at the moderate level may lag behind their peers in the area of language and pre-academic skills. Adults may function at an elementary school level and will require support in both work and daily living skills. For children and students functioning at the mild level, there may be difficulties in the area of reading, writing, math and money management. as children grow into adults, there may be a need for support in abstract thinking, executive functioning (planning, prioritizing and flexibility) as well as short-term memory and money management.  Teaching strategies should focus on the following:

  • Aggression management
  • Anger management skills
  • Anxiety management
  • Emotional regulation
  • Personal safety
  • Social skills

Keep in mind that many children and adults diagnosed with Prader-Willi Syndrome may have additional challenges in learning due to medication. Some people take medication such as a growth hormone therapy which can cause fatigue.  The following teaching strategies may also be useful when teaching a student diagnosed with Prader Willi Syndrome:

  • Use a multi-sensory approach. This involves a teaching style that includes auditory, visual, tactile, spatial, and kinesthetic (hands on activities)
  • Break learning into small steps. Check for understanding by asking the student to repeat back to you.
  • Teach a skill at least 2-3 times a day. This will help the student retain information.
  • Managing perseveration. Set up a rule where the student can a question no more than 3 times. After the third answer. Ask the student to repeat the response back to you.
Adult Day Program/Residential Setting

Most people with Prader Willi Syndrome due to their cognitive level, will be provided services in either a day habilitation program or live in a community providing residential services. Once a person becomes an adult, it becomes a little bit more tricky on maintaining issues especially behavioral. For instance, while living at home, a parent has the right to lock the refrigerator which is often suggested by experts. However, this becomes a violations of a person’s rights once they reach adulthood. Typically, committees meet to help make the right decisions along with family members and the adult diagnosed with Prader Willi Syndrome. Here are some suggestions.

  • Allow the person to have control of what is important to them. Have discussions on nutrition and staying healthy. Check to see if this may be an appropriate topic the person may want to improve by adding to their person-centered plan. Hold discussion groups in both day programs as well as in residential to discuss various topics on health and nutrition including holding classes on mindfulness and meditation.
  • Trips to shopping malls can be very tricky. Try to avoid mall’s eatery and plan if it is a group trip to have people bring their own lunches.
  • When teaching, allow time before giving additional prompts
  • Give praise as much as you can when it is appropriate.
  • Use visuals as much as you can including graphics and pictures.
Staff Training

Staff training on Prader-Willi Syndrome should include the following topics:

  • Overview of Prader-Willi Syndrome including, causes, symptoms, characteristics, nutrition, and self-regulation.
  • Impact on the family including the stresses families experience.
  • Teaching techniques including problem-solving, forward shaping and role-modeling.
  • Individual rights
  • Managing behavior and crisis intervention
  • Community inclusion trips and activities
Resources

Foundation for Prader-Willi Research

Prader-Willi Syndrome Association (USA)

Prader-Willi Syndrome (Mayo Clinic)

Reference

Prader-Willi Syndrome Association

 

Prader Willi Syndrome Resources

Prader-Willi Syndrome (PWS) also known as Prader-Willi Labhart Syndrome is a genetic disorder, characteristics include developmental and intellectual developmental disability, poor muscle tone, and lack of eye coordination. A complex genetic disorder impacts appetite, growth, cognitive function and behavior.

prader-will-image

Medical Sites

Genetics Home Reference
Mayo Clinic
Medicine.Net
Medical Home Portal
Medscape
Wikipedia

 

Organizations

Foundation for Prader-Willi Research
International Prader-Willi Syndrome Organization
Prader-Willi Syndrome Association

Books

Management of Prader-Willi Syndrome
 Our Way of Life
Prader-Willi Syndrome: Selected Research and Management Issues