Slow movement development caused by Willi syndrome in Little Fatty: Exercise prescription for rehabilitation

In the outpatient clinic, a worried mother brought her 6-month-old son and said that he had been diagnosed with Little Fat Willy Syndrome. Currently, his whole body was paralyzed, he could not turn over, and he could not lift his head. It was obvious that His motor development is slow. My mother heard that children with Willi syndrome will eat like crazy and even search the refrigerator for food to eat. She is very afraid that her son will become a big food monster and hopes that doctors can help him. What is Fat Willy Syndrome?

It is caused by a defect in the long arm of the 15th pair of chromosomes (position 15q11-q13). The incidence is about 1/15000~1/20000. The clinical manifestations of newborns are low muscle tone (the whole body is soft) , difficulty in feeding, failure to grow, and low intelligence. After the age of 2, the appetite increases greatly. Eating a large amount causes obesity and behavioral problems.

Little Willi syndrome affects the whole body and requires the cooperation of multiple specialist doctors. The pediatric geneticist will establish the diagnosis, and the genetic counselor will evaluate and refer to the pediatric rehabilitation physician and therapist for treatment. Developmental delays are treated early, and cardiopulmonary rehabilitation physicians conduct precise cardiopulmonary exercise tests and formulate exercise prescriptions. Nutritionists and psychologists assist with diet and behavioral intervention. Different ages, different symptoms

0~2 years old: low muscle tone, muscle weakness, feeding difficulties, growth retardation, cryptorchidism, and severe motor development delay.

2~6 years old: Lack of satiety leading to overeating and craving for food, reduced physical activity leading to obesity, lack of growth hormone leading to short stature and delayed development.

6~20 years old: Obesity causes sleep apnea or diabetes (25%); hypogonadism causes infertility and osteoporosis; low intelligence; behavioral problems, prone to losing temper, stubbornness, and compulsion disease.

After the age of 20: Obesity can cause sleep apnea, diabetes, and stroke; after the age of 40, about 15% will develop early-onset dementia.

Delayed motor development: most obvious in infancy, children and adults will also have some degree of motor impairment, with poor muscle strength, flexibility and balance. It is currently believed that the motor development problems of patients with Little Fat Willy are related to the excessive body fat and muscle ratio.

Poor cardiorespiratory endurance: Even if patients with *** Fat Willy exercise regularly, their maximum oxygen consumption, muscle strength and flexibility are still lower than those of ordinary adults with the same body mass index (BMI). Treatment and Rehabilitation

Growth hormone treatment: Helps grow taller and improve body composition (increase muscle and reduce body fat). Growth hormone combined with rehabilitation training can increase muscle thickness.

Early treatment and rehabilitation: Due to low tension and low muscle strength, Little Fatty Willy is prone to delayed movement development and requires evaluation and intervention by the pediatric rehabilitation team. Research shows that the earlier the rehabilitation intervention, the better, preferably starting in infancy.

Rehabilitation exercise: Exercise (walking) combined with diet control can reduce weight and increase aerobic capacity. Ankle joint (step standing, heel walking) exercises can improve gait, walking speed and ankle muscle strength. ;Calf muscle exercise can increase muscle strength and walking distance.

It is very important for patients with Little Fat Willy to develop exercise habits. It is recommended to exercise at least 3 times a week for 30 minutes each time. Types of exercise include aerobic exercise such as walking, power walking or cycling, as well as muscle strength training such as respiratory muscles, core muscles, upper and lower limbs, and calisthenics.

(Little Fat Willy’s patient performs core muscle training.)

Exercise prescription: Safe and effective aerobic exercise prescription includes exercise frequency, intensity, time, type, and cardiopulmonary exercise is required. Only when the maximum oxygen consumption is measured through an exercise test can the prescription be accurately prescribed.

Maximum oxygen consumption is divided into indirect and direct measurements. Indirect measurement methods, such as heart rate, speed and inclination of the treadmill, are not suitable for patients with Little Fatty Willy; direct measurement methods are required, wearing a mask to measure Oxygen and carbon dioxide levels, as well as treadmill or bicycle cardiorespiratory exercise tests are accurate.

(Patient Little Fat Willy underwent cardiopulmonary exercise testing.)

Exercise testing assists in prescribing exercise. The advantages are as follows:

1. Exercise testing can obtain Know the range of motion that the patient can currently bear. For example, if the test result is 4~5 METs, it means that it is safe to sweep the floor, wash the floor, and lift 7~10 kilograms of items; if there are only 3~4 METs, it means that washing the floor is difficult for him. You can start by simply cleaning the windows and mopping the floor (see the table below).

METs and Affordable Exercise Comparison Table

2. Develop an exercise plan suitable for patients to implement at home based on objective values, especially when the patient’s willpower is poor, parents can use this The standard provides appropriate exercise, which is relatively less strenuous or insufficient, and can meet the patient's interests. For example, if the patient likes to dance, he or she can choose a suitable dance.

(Patient Little Fat Willy performed aerobic step training.)

3. The exercise prescription after the exercise test includes, in addition to aerobic exercise, anaerobic exercise (resistance type Exercise, strength training), and flexibility exercises can promote the balance and muscle control that patients need.

4. Even if patients do exercise training, their performance is likely to be worse than ordinary people. Therefore, it is difficult to clearly observe the training results. Regular use of exercise tests can be used as an objective indicator to track the patient’s exercise ability. progress.

Since patients with Little Fat Willy have cognitive function and behavioral problems, when performing cardiopulmonary testing, an experienced team is needed to assist with guidance, education, encouragement, and adjustment of appropriate treadmill or bicycle settings. Patients perform exercise testing when it is safe to do so. During the test and when the exercise plan is implemented after returning home, parents play a very important role, responsible for supervising and encouraging the patient. In addition, studies have pointed out that regular intensive exercise training, diet control, and assistance such as music, education, and entertainment can also help patients control their weight well. Replacing misunderstandings with understanding

In recent years, with the efforts of the media and associations, the Chinese people have become aware of chubby Willi syndrome. It turns out that "little chubby" children cannot keep up with their academic progress, move clumsily, and sometimes speak incorrectly. Negative manifestations and symptoms such as making people angry, gluttony, and obesity are actually not intentional, but caused by the disease. Through awareness and understanding, we can be more tolerant of Fat Willy’s disease manifestations, eliminate misunderstandings, and develop empathy.

In addition to hospital resources, there are also the Rare Disease Foundation, Little Fat Willy Patient Care Association and Little Fat Willy Small Works to provide support for patients and their families.

Acknowledgments: The photos and some information in this article were provided by cardiopulmonary rehabilitation physician Lin Klon, rehabilitation physician Su Yantong, and physical therapist Zhong Jinghui.