Prader-Willi syndrome (PWS) is a genetic disorder that can lead to many problems in a patient. Especially for young patients with this condition, they face significant hurdles that affect every aspect of their lives. These include challenging behaviors, developmental delays, obesity, learning difficulties, food-seeking tendencies, and other severe conditions. All these challenges can leave the patient, loved ones, and caregivers feeling overwhelmed. Fortunately, this condition is manageable, and physiotherapy is one way to manage it.

Because it is an intricate condition, PWS requires comprehensive, coordinated care. This is the type of care we provide at Suarez Physical Therapy. We provide coordinated allied health support for all patients living with PWS, including children, teenagers, and adults. Our physiotherapists work collaboratively with other health care providers to provide practical, objective-based care customized to every patient's needs, daily environment, and strengths. If you have a PWS patient and are looking for physical therapy services in Las Vegas, do not hesitate to contact us.

An Overview of Prader-Willi Syndrome

PWS was first defined in 1956. It is a genetic disorder caused by randomly occurring missing or defective genes. In approximately 7 out of 10 cases, this disorder occurs as an infant grows in their mother's womb, when the father's genes are erased on a particular part of chromosome 15.

In another 2.5 out of 10 cases, an infant inherits two copies of chromosome 15 from their mother, replacing the genes usually inherited from the father. In a case where only the mother's genes are present, none are active. PWS arises randomly and impacts females and males equally. The symptoms vary in severity from one person to another.

Until recently, many patients with PWS passed away in their forties because of complications caused by morbid obesity. But now, patients with this condition can stay healthy, living up to a standard lifespan with a proper support system and careful weight management. Morbid obesity can result in the following complications:

  • Breathing problems
  • Diabetes
  • Hypertension
  • Sleep apnea
  • Atherosclerosis
  • Heart disease

PWS patients have an excellent chance of controlling their weight effectively and an increased lifespan with the following:

  • Growth hormone therapy
  • Exercise programs
  • Controlled access to food
  • Early diagnosis, particularly in newborns
  • Nutritional education and a healthy diet

Symptoms of PWS

PWS has a broad array of behavioral, mental, and physical symptoms, whose severity varies from one patient to another. People with this disorder have distinctive body and facial features. These include the following:

  • Downturned mouth
  • Short stature
  • Small feet and hands
  • Almond-shaped eyes

Low skin pigmentation is also common. Affected people usually have fairer skin and hair that is lighter than that of other family members. People with PWS might also experience sleep problems, characterized by excess daytime sleepiness, behavior problems, and decreased response to pain.

PWD is categorized into two stages: the first and second stages.

The first stage is from birth to two years. Various factors, including the following, characterize this stage:

  • Developmental delays
  • Feeding issues because of a poor capability to utilize the mouth muscles and to suck
  • Hypotonia (low or poor muscle tone)

Despite challenges in gaining weight at first, infants with PWS have been proven to have higher body fat already in comparison with lean muscle (body mass) than other babies. That said, they ought to consume fewer calories to satisfy their energy requirements. Many infants with PWS need assistance with feeding for the first four to six months after birth. Feeding assistance might include feeding tubes and nursing systems.

The second stage starts between one and four years old and continues into adulthood. This stage is characterized by the patient developing hyperphagia (insatiable hunger). Hyperphagia often starts between three and eight years and causes the patient to gain weight rapidly. Patients with this syndrome never feel that they are full upon eating and usually have food-seeking behavior (a constant urge to seek food and eat). Specialists believe that hyperphagia is usually caused by dysfunction in a specific brain area.

Obesity often sets in at this stage. Weight gain also becomes a complicated issue to manage because patients with PWS require only 60%-80% of the calories that normal individuals require due to their higher body-fat constitution and corresponding low muscle mass. That means they require less food each day to satisfy their caloric requirements than people without it.

Additional signs that might manifest at PWS stage two include the following:

  • Vision problems
  • Scoliosis (curving of the spine)
  • Difficulty breathing when asleep (for example, sleep apnea)
  • Small stature (because of a deficiency in growth hormone), with small feet and hands
  • Hypotonia
  • Problems with hip joint formation (hip dysplasia)
  • Reduced bone density (osteoporosis)
  • Incomplete or absent puberty
  • Learning challenges
  • Being insensitive to pain. This could mask other signs and symptoms
  • Behavior problems, such as anxiety, impulse control, skin picking, and obsessive-compulsive symptoms

PWS Diagnosis

Physicians diagnose PWS contingent on the clinical signs and symptoms they note during a medical checkup and on characteristics reported by the patient's loved one, caregiver, or physiotherapist. This disorder should be taken into account in any baby born with severe hypotonia. Babies with difficulty feeding or those failing to grow will require further testing.

Physicians conduct blood tests, which help confirm the PWS diagnosis. They can correctly identify over 99% of individuals with this disorder. Early diagnosis improves the quality of a patient's life. Your baby might have different types of health care professionals helping them, including a physiotherapist.

How Physical Therapy Can Help Manage PWS

A physiotherapist can be a valuable resource in helping your child attain their maximum potential. Physiotherapists play an essential part in the general medical management of Prader-Willi syndrome. Managing this syndrome involves:

  • Exercise
  • Proper diet
  • Growth hormone treatment
  • Techniques to address learning and behavior problems

Firstly, your physiotherapist will conduct an assessment of your child, which includes the following:

  • Checking birth history and developmental journey. The physiotherapist will want to know about your baby’s birth, motor development (including sitting unsupported, walking, crawling, rolling, and head control), and hospital treatment.
  • Medical history and behavioral and health concerns. The physiotherapist will also want to know about any other health conditions or problems your baby might have, recent doctor visits, hospitalizations, and whether other medical specialists are currently treating the baby. They may ask you to report the child's growth and feeding habits, including what a normal day is like for the child.
  • Parental concerns. The physiotherapist will want to know your goals and concerns for your baby.
  • Physical exam. The physiotherapist will then conduct a physical examination to determine the child's strengths and weaknesses. The exam might include measuring weight and height, assessing muscle tone and strength, and monitoring movement patterns. The physiotherapist will use specified tests to establish your baby's current coordination, balance, endurance, developmental milestones, and muscle function.

Your physiotherapist might recommend consulting other medical professionals, including an orthotist. An orthotist can prescribe a brace to help the child with walking. Physiotherapists help adults and children with PWS increase their muscle strength and mobility so that they can operate at their full potential in their lives. Physiotherapy could be provided at schools, homes, or in outpatient settings.

A physiotherapist will provide a range of services through various stages of the baby's life. The objective is to improve endurance, strength, movement, and coordination. They will focus on different goals at every stage of your baby's life to help them participate in school, community, and family activities.

They will also work closely with other practitioners, including speech-language pathologists, endocrinologists, and occupational therapists, to coordinate the child's care while ensuring all their goals and needs are addressed safely and as effectively.

Physiotherapy in the Initial Years (from birth to four years)

Physiotherapists work closely with parents, educating them on their baby's condition. They train parents in a wide range of activities they can engage in with their infants to promote muscle strength and movement.

Your physiotherapist may also recommend changes you can make at home to help improve your child’s playing skills and raise the chances of their movement. Babies at this stage learn through playing. Your physiotherapist will create a fun, play-based treatment plan contingent on your baby's strengths and weaknesses and your goals as the parent.

The physical therapist will help you incorporate these activities into your everyday family routine. Many babies six months and below need assistance feeding. Some babies might require feeding tubes, specialized nipples, and particular feeding positions.

Physiotherapy During School Years (from Ages 5-17)

Physiotherapists work in outpatient clinics and schools to help PWS children function more independently as they grow older and go to school. Your physiotherapist may train you and the caregivers in school and at home to ensure your child has the best possible quality of life. As a PWS child ages, they often struggle with inactivity and obesity.

Exercise can come in handy throughout a child's life to manage weight, maintain bone strength, and safeguard against muscle loss. Your physiotherapist may recommend specific activities or a fitness course designed to enhance physical fitness and encourage increased activity and mobility. Routine physical activities in PWS children strengthen bones and increase lean body mass.

Some children might receive rhGH (growth hormone) treatment from their physician. According to research, rhGH treatment in combination with physical activities yields greater benefits. A curved spine is also prevalent in PWS children. 30% - 80% of people with this syndrome are diagnosed with scoliosis, based on their specific age. Your physiotherapist will check your child for scoliosis symptoms. Physical therapy may help manage this condition.

Physiotherapy for Adulthood (From 18 Years and Above)

For PWS patients aged 18 years and above, inactivity and health issues related to obesity can lead to reduced independence and mobility and reduced participation in general activities in the community and at home.

Osteoarthritis is also prevalent and can cause restricted joint movement, leading to pain. Your physiotherapist may recommend home modifications and adaptive equipment to support independence and mobility at home. They can also develop a fitness plan to enhance physical fitness and raise bone density and muscle mass.

Up to 25% of adults with Prader-Willi syndrome develop Type 2 diabetes. A physiotherapist can continue providing an exercise routine and targeted physical activity to help PWS patients:

  • Sustain quality of life
  • Improve everyday activity
  • Attain and improve general mobility
  • Have access to appliances to help with walking or moving later on in life

Preventing PWS

PWS results from changes in genetics. These changes are generally random, occurring during the period the infant is developing in their mother's womb. Thus, the disorder is very challenging to prevent. However, if you are a pregnant woman, seek quality prenatal care. Also, ensure you follow your health care provider's recommendations. It is possible to have genetic tests during pregnancy. It may be helpful to undergo those tests if health care providers suspect a genetic alteration.

Even though PWS impacts many health aspects, improvements in the health sector have led many patients with this disorder to live well into their old age. Physiotherapists and other medical professionals can help minimize the syndrome’s effects, including a possible inactive lifestyle and obesity.

Using human rhGH treatment combined with strong management of nutrition has proven to produce many good effects, including the following:

  • Increased and appropriate growth,
  • Improved muscle strength,
  • Improved motor development in babies,
  • Improved bone health

Specialists may recommend using human rhGH treatment as early as four to six months or at an older age. Any child undergoing hormone treatment must be under a doctor's observation.

What Type of Physiotherapist Treats PWS?

Every physiotherapist has undergone training by practical experience and education to address a wide array of injuries and conditions. Some factors to consider when choosing a physiotherapist for individuals with this disorder are as follows:

  • A physiotherapist who specializes in treating children and infants
  • A physiotherapist with board certification as a clinical specialist or who has completed a fellowship or residency in pediatric physiotherapy. This kind of physiotherapist will have clinical knowledge, experience, and skills that might apply to developmental disorders, including PWS
  • A physiotherapist experienced in treating obesity, plus its related chronic health conditions

Tips when looking for a physiotherapist include the following:

  • Ask for recommendations from friends, family, or other medical care providers
  • When you reach out to a physiotherapist, ask about their experience in handling patients with this condition or other genetic or developmental conditions.
  • Be ready to explain your baby's motor skills and symptoms in detail on your first appointment.

Home Remedies and Lifestyle

Apart from or in addition to physical therapy, there are some home remedies and lifestyle tips you can follow to help you care for your baby with PWS:

  • Set limits. Develop a firm schedule and set behavioral expectations. If necessary, speak with your child’s healthcare providers regarding how to handle problems.
  • Encourage regular everyday activity. If your child exercises and is more physically active, it can help them manage their weight. It also makes them better able to function physically.
  • Follow a strict meal plan. For your child not to become overweight, they need a diet that is not rich in calories. Plan mealtimes plus the types of foods served to develop routines and help your baby learn expectations. Serve meals on small plates and avoid high-calorie snacks. Store foods out of the child's reach. Lock refrigerators, cupboards, garbage cans, and pantries.
  • Learning about PWS. Work closely with your baby's healthcare providers, including their physical therapist, to learn more about PWS and develop a care strategy to manage signs, symptoms, and problems. Managing weight and hormone levels can improve behavior and development and avert complications.
  • Schedule routine medical care. Speak to your healthcare professional regarding a routine schedule of health appointments and tests to examine for complications and other problems.

PWS Complications

PWS can cause various complications, including the following:

  • Dental issues. Having less or thickened saliva and dry mouth are prevalent in PWS, as is poorly developed enamel. These issues, together with poor oral hygiene, can result in gum disease and dental cavities.
  • Stomach rupture and choking. Binge eating (eating a large quantity of food faster) can make the stomach larger than usual. Individuals with PWS rarely vomit and might not experience any pain. Binge eating can also cause choking. Rarely, patients might eat so much that their stomachs rupture.
  • Decreased quality of life. Behavioral issues can impact family functioning, educational attainment, and participation in social activities. These problems lower the quality of life.

Contact a Qualified Physiotherapist Specializing in PWS Near Me

Even though Prader-Willi syndrome remains an intricate condition, advancements in therapeutics are going steadily. With this progress, patients with PWS can be provided with the special care they deserve to manage their health challenges. Physical therapy plays a significant role in managing this condition and is worth considering. The goal of physiotherapy is to enhance the patient's strength, movement, coordination, and endurance.

If you are looking for physical therapy services for PWS in Las Vegas, we at Suarez Physical Therapy can help. We organize our patients' integrated care plan around the complications associated with PWS, including bone health, growth, and muscle strength. Other than that, our patients work with leading professionals who help them reach their full potential. Contact us today at 702-368-6778 to schedule an appointment.