Prader-Willi syndrome

Prader-Willi syndrome's disease overview

  • Prader Willi syndrome or syndrome loss of paragraph 15Q11 rare disorders occur at birth, there are causes due to loss Function 1 gene on the long wing of chromosome number 15.
  • Prader Willi syndrome affects human health, mental, mental, language and behavior. More specifically, the disease also causes disorders in the ability to eat and drink, making children feel unsaturated. Therefore, the common complication of this disease is obesity and more serious diseases such as type 2 diabetes, cardiovascular disease and stroke, arthritis, sleep apnea, reduced genital gland, infertility. or osteoporosis.
  • The frequency of prader Willi syndrome is 1/15000-10000 infants.
  • The average life expectancy of patients with Prader Willi syndrome may decrease depending on the severity of the symptoms.

    • Causes of Prader-Willi syndrome's disease

    The cause of Prader Willi syndrome is genetic factor. Specifically, one or more genes are abnormal, and although the abnormal gene has not been found, the studies suggest that Prader Willi syndrome is due to the deviation of chromosomal genes 15. P>

    Abnormal gene factors may include:

  • gene located on chromosomes No. 15 missing.
  • Children are multiplied by 2 copies of chromosomes 15 from the mother but not receiving any 15 chromosomes from the father.

    • There are errors or defects in the gene located on chromosomes No. 15.

    Genetic defects on the gene of this disease have destroyed the function of the hypothalamus, which is the control of hormones that cause hunger, thirst and release hormones to remind the secretion of supportive substances. Growth and gender development. Therefore, Prader Willi syndrome often causes uncontrolled phenomenon of hunger, slow growth of the body, gender retardation as well as other manifestations of the disease.

    Symptoms of Prader-Willi syndrome's disease

    Symptoms of people with Prader Willi syndrome are often different in each different period, including:

    Newborn phase:

  • Reduce muscle tone: The muscles of a weak newborn, when the child rests, the elbow muscles and knees are loose. Young people feel like soft.
  • Characteristic face: almond -shaped eyes, turning down to the mouth, slimming mouth and thin upper lips, narrowed forehead.

    • Children with poor feedback should be slow to gain weight.

  • Eyes are strabismus, not looking in the same direction called lack of eye coordination.
  • A lot of tired children, when stimulated, the reaction is poor, it is difficult to wake up, cry weakly, the cries are weak.

    • The period from 1-6 years: During this period, symptoms that appear can exist throughout life, so it is necessary to manage and treat tightly, including those. The following symptoms:

  • Cravings, weight gain: Children at this age eat a lot, so they gain weight quickly. Children always feel hungry should eat regularly, even eat very abnormally such as having a habit of storing food, or eating frozen foods and rubbish.
  • Poor development: Genital disability occurs with testicular signs for boys and ovaries for girls with little production or without sex hormones, making the genitals develop incomplete at this stage. In women, this can lead to infertility, or if not treated, there will be no menstrual cycle or no menstruation until the age of 30. For men, there may be no facial hair and no ability to break completely.
  • Poor physical growth: Children with Prader Willi syndrome have low muscle mass but the amount of fat in the body is high. Children have short and short feet. The children, although they reach adequate growth in adulthood, are still lower than other family members.
  • Intellectual disabilities: Intellectual retardation such as thinking, reasoning, ability to solve problems slowly.
  • underdeveloped exercise: Children with this disease often have the ability to move, sit up ... later than other children.

    • Language skills are underdeveloped: Children will suffer from slow speaking, poor pronunciation and the ability to establish sentences are also difficult, prolonged until adulthood.

  • Problems with behavior: stubborn, anger, loss of control. In particular, children may get angry when they do not feed them. Children may also suffer from enforcement disorders, making children's thoughts and behaviors repeat many times. Mental disorders are also likely to occur.
  • Sleep disorders: Disregard in sleep with sleep apnea. These manifestations lead to drowsiness during the day. Obesity also disrupts sleep.

    • Scoliosis: Children with Prader Willi syndrome will have scoliosis.

    Endocrine problems: Do not produce enough thyroid hormones, growth hormone deficiency, adrenal insufficiency that makes the body stressful, unable to cope with infection.

    Some other symptoms of Prader Willi syndrome include:

  • Myopia, vision -related issues.
  • Skin, brighter hair than family members.
  • Children have high pain threshold, do not show pain, so it is difficult to detect injuries.

    • Heat lower body and high fever may not be seen despite the serious illness.

    Skin damage and bruises: This is the result of self -peeling behavior.

    Children cannot vomit.

  • Children have difficulty swallowing food, leading to suffocation.

    • Transmission route of Prader-Willi syndrome's diseasePrader-Willi syndrome

    Prader Willi syndrome is a non -communicable genetic disorder.

    People at risk for Prader-Willi syndrome's disease

    Because the genetic mutations of the 15 chromosomes often occur randomly, Prader Willi syndrome may occur without having a family member.

    Some other cases, Prader Willi syndrome is inherited from family members, maybe a father.

    Prevention of Prader-Willi syndrome's disease

    To prevent Prader Willi syndrome, the family can advise genetic advice with the doctor to determine the risk of giving birth to a child capable of having this syndrome.

    Diagnostic measures for Prader-Willi syndrome's disease

    for clinical diagnosis of Prader Willi syndrome, based on different stages:

    Objects and babies will have the following manifestations to help the diagnosis:

  • Reduce muscle tone
  • Weak crying
  • Poor, poor feeding reflexes.
  • The face has the characteristics of the eye -shaped eye, narrowed forehead, small mouth, thin upper lips.
  • Abnormal growth and development,

    • Objects are older children, when diagnosed with Prader Willi syndrome will have the following signs:

  • Eat a lot, unable to control the ability to eat and gain weight.
  • Genital glands grow late, late puberty, inadequate development of genitalia.
  • Intellectual retardation.
  • Saliva can be thick and sticky.

    • After identifying these clinical symptoms, the patient will be tested for blood formula and apply special genetic testing methods to find abnormalities in Chromosomes, contributing to the diagnosis of Prader Willi syndrome.

    Prader-Willi syndrome's disease treatments

    Doctors and medical experts will participate in the process of controlling the child's condition.

    Methods of care and treatment for children with Prader Willi syndrome include:

  • Provide adequate nutrition: It is necessary to have a high -calorie diet and special nourishment to help children gain weight. Accompanying that needs to monitor the development of children to evaluate treatment.
  • Treatment of growth hormone: Stimulating growth, has an impact on energy metabolism. The effectiveness of this method is to improve muscle weakness, reduce the amount of fat in the body of the child.
  • Sex hormone treatment: Apply hormone replacement therapy: Testosterone for men and estrogen, progesterone for women. This method helps to supplement sex hormones, done when children reach puberty. In addition, the treatment of sex hormone also helps reduce the risk of osteoporosis in children.
  • When children are older, diet to reduce calories, control body weight and limit eating will be applied to children.
  • Treatment of sleep disorders and sleep apnea: Before this method, patients need to be evaluated by the doctor.
  • Treatment of comprehensive development issues: including physiotherapy to solve movement and strength problems, therapeutic language to improve slow speaking. , labor therapy to develop communication, social and treatment skills to help improve behavioral problems.
  • Mental care for children: It is possible for children to be treated with a psychiatrist to solve the problem of obsession, mental disorders. Children can be used to control these problems.

    • For parents, they need to follow the following to take care of their children with Prader Willi syndrome in the best way:

  • Be careful because children have Prader Willi syndrome often weak, so it is easy to slide from the arms if parents are not careful.
  • Following a special diet for children: low calorie content in a low meal, avoiding obesity.
  • Do not keep unhealthy eating habits like fast food. It is necessary to take measures to help children limit excessive eating such as refrigerator lock and give children small meals.
  • Supplement with vitamins and minerals for children's meals according to a doctor's advice to help children balance nutrition.
  • Maintain a daily exercise habit to control weight also develops children.
  • Establish a limit in the child's behavior as directed by the doctor
  • Proper screening test as directed by a doctor to screen the complications of Prader Willi syndrome including diabetes, osteoporosis, scoliosis.

    • Because people with Prader Willi syndrome need to be monitored, cared for and treated for a lifetime, for adults with this disease, need to be consulted by a doctor to be advised by a doctor. Convert to an adult care mode for Prader Willi syndrome.

    Because Prader Willi syndrome is a burden for the family and society, the families of these patients need to participate in the Association for patients with Prader Willi syndrome to be able to get help. Supports of health organizations around the world, and can exchange experience in managing disease management and community integration.

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