What is Prader Willi Syndrome?

May is Prader Willi Syndrome Awareness Month

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

 

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Speech-language Pathology and Adult Services

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Guest Blogger, Anne Marie Pineiro, M.A. CCC-SLP, 

Speech-language Pathologists serve individuals, families, and groups from diverse

linguistic and cultural backgrounds. Services are provided based on applying the

best available research evidence, using expert clinical judgments, and considering

clients’ individual preferences and values. Speech-language pathologists address

typical and atypical communication and swallowing in the following areas:

pragmatics (language use, social aspects of communication)

-literacy (reading, writing, spelling)

– prelinguistic communication (e.g., joint attention, intentionality, communicative signaling)

paralinguistic communication

  • cognition- attention,  memory,  sequencing,  problem solving,  executive functioning
  • feeding and swallowing- 4 phases of swallowing

-oral, pharyngeal, laryngeal, esophageal

orofacial myology (including tongue thrust)

-oral-motor functions

Source:   http://www.asha.org/uploadedFiles/SP2007-00283.pdf

In providing services to those Adults diagnosed with a variety of Developmental Disabilities, the SLP’s role may become much more defined, focusing on what is most functional to an individual in the areas of speech, receptive and expressive language (verbal or non-verbal communication) and feeding/ swallowing.  Very often we are attempting to assess and/or maintain an individual’s current level of functioning in the above areas and to train all those involved in the care of that individual in the strategies and implementation of them to achieve that goal.  In our Agency, for example, we break the assessment down into the following areas in order to develop functional and measurable outcomes:

Speech

  1. Does the individual use speech functionally to communicate wants/needs in a variety of settings?
  2. If so, is their speech understood by all, some, few communicative partners?  Are there any strategies a person might use to increase his/her intelligibility- modifying volume, rate, resonance, increasing fluency, etc.?  Does the person use Augmentative Communication to supplement speech when he/she cannot be understood e.g. low/high tech communication device, writing, American Sign Language, Picture Language Board, etc.

Language

  1. Receptive language (Language comprehension) including attention to objects, using objects functionally, identification of objects and/or pictures, comprehending one, two or three-step oral directives, vocabulary, comprehension of attributes and spatial relationships, or auditory comprehension on the word, sentence and paragraph levels.  Is comprehension on the literal or inferential levels?
  2. Expressive language- (Language expression)- for those who are verbal, the MLU (mean length of utterance) is assessed.  For non-verbal individuals, language expression can be in the form of pointing to one or two picture symbols consecutively on a picture language communication board or AAC device, writing or typing single words, phrases, sentences or paragraphs on paper, computer or AAC device.

-AAC device assessments for nonverbal individuals take into account the individual’s cognitive skills, physical abilities in order to access the device (direct selection with hand or finger, eye gaze, head pointer, switch/scanning, etc.), receptive and expressive language skills, communicative intent and pragmatic language abilities, and literacy.  All those involved in the individual’s care play an extremely important role in whether or not someone may receive an AAC device since they will be the ones to set up/take down the device and provide basic maintenance for the device, including programming, charging, etc.

Feeding and Swallowing:

Many people wonder why an SLP would be the one to review an individual’s mealtime plan or protocol.  ASHA guidelines state it best: “The speech-language pathologist is a primary professional involved in assessment and management of individuals with swallowing and feeding disorders. These areas include:

  • Performing clinical swallowing and feeding evaluation;
  • Performing instrumental assessment of swallowing function with medical professionals as appropriate;
  • Identifying normal and abnormal swallowing anatomy and physiology;
  • Identifying signs of possible or potential disorders in upper aerodigestive tract swallowing and making referrals to appropriate medical personnel;
  • Making decisions about management of swallowing and feeding disorders;
  • Developing treatment plans;
  • Providing treatment for swallowing and feeding disorders, documenting progress, and determining appropriate dismissal criteria;
  • Providing teaching and counseling to individuals and their families;
  • Educating other professionals on the needs of individuals with swallowing and feeding disorders and the speech-language pathologists’ role in the diagnosis and management of swallowing and feeding disorders;
  • Serving as an integral part of a team as appropriate;
  • Advocating for services for individuals with swallowing and feeding disorders;
  • Advancing the knowledge base through research activities.

In addition, Speech-language pathologists have extensive knowledge of anatomy, physiology, and functional aspects of the upper aerodigestive tract for swallowing and speech across the age spectrum including infants, children, and adults (including geriatrics). The upper aerodigestive tract includes oral, pharyngeal, and cervical esophageal anatomic regions. Speech-language pathologists also have extensive knowledge of the underlying medical and behavioral etiologies of swallowing and feeding disorders. In addition, they have expertise in all aspects of communication disorders that include cognition, language, and behavioral interactions, many of which may affect the diagnosis and management of swallowing and feeding disorders.”

Source: http://www.asha.org/policy/TR2001-00150/#sec1.3

The dysphagia and feeding disorders that are seen in adults with developmental disability include poorly developed and absent feeding and oral preparation skills and competencies, physiological and anatomical impairments that degrade oral-pharyngeal and esophageal bolus motility, and disruptive or maladaptive mealtime behaviors. Nutrition, hydration, saliva management, ingestion of medications, and management of the oral hygiene bolus may be involved. Upper airway obstruction (choking), aspiration, malnutrition, and dehydration may result from the disorder (Rogers et al., 1994, Sheppard et al., 1988).  Source: http://www.asha.org/policy/TR2001-00150/#sec1.3

Therefore, in our Agency that serves Adults with Developmental Disabilities, the SLP works as one member of the Team, including the Occupational Therapist, Physical Therapist, Nurse, Residential Team and Family Members to create a mealtime protocol or plan which simply states the best way to maximize nutrition while at the same time attempting to decrease incidents of choking (partial or complete blockage of the airway) or aspiration (food or liquid making its way into the lungs which can lead to aspiration pneumonia).  These plans are developed so that all involved in the individual’s care may be informed of the best feeding practices for that individual which include: adaptive mealtime equipment (any cup spoon, plate, straw, etc. used for an individual to improve ability to eat independently and to improve oral-motor control), positioning in chair or wheelchair, degrees of assistance needed for self-feeding, food and liquid consistencies, food allergies and intolerances, the presence of any mealtime behaviors, including rapid pace of eating which may increase risk of choking or aspiration, and any specific instructions the caregiver would find useful in feeding the individual or maximizing the individual’s ability to feed themselves.

I hope you find this information helpful in identifying the SLP’s role in providing services to adults with Developmental Disabilities.

This information is in no way intended to serve as a complete guide in this area, but is meant to simply assist in identifying ways the SLP works as part of the Interdisciplinary Team in serving adults with developmental disabilities in a day habilitation setting