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Prader-Willi syndrome (SPW): Insatiable appetite

Prader-Willi syndrome (SPW): Insatiable appetite



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The prevalence of overweight and the obesity they represent epidemics that have several serious illnesses as comorbidity; only since 1975, obesity has almost tripled in the world, by 2016: “41 million children under five years of age had either of these two conditions” (WHO, 2016), currently estimated that the figure is in a vertiginous increase, many complications of Prader-Willi syndrome are due to the obesity. However, the latter does not always have to do with the lack of physical activity or diet, as is the case with the PWS.

Content

  • 1 What is Prader-Willi syndrome (SPW)?
  • 2 Genetic Influence and Prader-Willi Syndrome
  • 3 SPW: over time
  • 4 Syndromic chart
  • 5 Consequences of Discrimination
  • 6 Inclusion & Prader-Labhart-Willi Syndrome
  • 7 Treatment

What is Prader-Willi syndrome (SPW)?

SPW is a genetic disorder Unusual, those who suffer from it, manifest appetite that seems to be insatiable, developing a pernicious obsession to eat almost all the time. In most cases these behaviors lead them to the morbid obesity. They usually have physical and cognitive-behavioral problems that represent a great challenge for them as individuals and for their caregivers. It is possible to identify it from birth, since people who suffer from it are usually smaller than their average age. hypotonia, as well as characteristic facial features; is associated with a foul or defect in the functioning of certain genes located on chromosome 15.

The estimated incidence of Prader-Willi syndrome ranges between 1: 15,000 and 1: 25,000

People with Prader-Willi syndrome present a anxiety eager to eat and they are able to do almost "anything to get food", their imperative need, sometimes forces them to lie and try to manipulate to get food. They show unusual behaviors for their search, such as storing it in a compulsive way and monopolizing the food of the whole family in a little carelessness, since they usually have “Binge"In those who can't stop eating, they can even eat frozen food, junk and spoiled food."

Genetic Influence and Prader-Willi Syndrome

This is a condition caused by an error in one or more genes, it has been observed that the OCA2 gene and snoRNAs are involved (SNORD116), which have an important participation in the SPW syndromic framework. Why does this happen? The most frequent reason is because there is an error or defect in the paternal genes of chromosome 15; Other reasons that have been identified is the lack of paternal genes on the same chromosome, due to the activation of specific genes of the parents, it is caused by a phenomenon known as imprinting"Or genetic imprint.

It should be mentioned that the effects on chromosome 15 cause some hypothalamic functions to be interrupted, can cause: insatiable hunger, growth below average children of their age, problems in their sexual development, to regulate their body temperature, state disorders of mood and sleep disorders, among others. About 25% of SPW cases are due to having two copies of chromosome 15 inherited from their mother, instead of one copy of each parent, this phenomenon is called "Maternal uniparental disomy".

SPW: over time

Prader-Willi syndrome (PWS) In 1887, Lagdom-Down described the first case with PWS, calling the syndromic picture "polysarcia." Years later (1956), Prader and other collaborators reported subjects with similar phenotypes. Finally in 1981, Ledbetter and his team, identified microdeletions (syphilis) on chromosome 15, is considered the first human syndrome identified with genomic imprinting, it is also known as Prader-Labhart-Willi syndrome.

Syndromic picture

There are variations among people who suffer from this syndrome. The symptoms can change through the stages of the different stages of development of the subject, the main signs of SPW are:

Common clinical manifestations of Prader-Willi syndrome

NutritionSucking poor in * breastfeeding.

Hyperphagia or insatiable appetite, which leads to severe obesity, usually from 2 years of age.

Rapid weight gain between 1 to 6 years old.

Musculoskeletal System

Short stature, scoliosis, * muscular hypotonia of central origin, scoliosis, flat ulnar edge for hands, these, as well as their feet are usually small and have little muscle mass.
 

* Characteristic facial features

Almond eyes, narrow forehead, high palate and more arcuate Normally, triangular upper lip or mouth in the form of “carp”, retroactive nose (upwards), can have myopia or strabismus.
Hypothalamic abnormalitiesBoth sexes: absent pubertal development or presents with obvious delay, *hypogonadism (dysfunctional testicles or ovaries).

Women: * small female genitals, * hypoplastic minor lips, amenorrhea Primary or secondary

Men: * micropene, * hypoplastic scrotum and * cryptorchidism, this term comes from the Greek κρυπτός “kryptós” (hidden) and ορχίς “orjís” (testis), is a developmental disorder in which there is an incomplete descent of one or both testicles through the inguinal canal to the scrotum. Men usually have poor facial hair and often, their voice does not become more serious when they grow up.

Skin problemsIntertrigo in fat folds with secondary infection by candidiasis, phlebitis and ulceration of edematous legs.
PsychodevelopmentMotor development with delay. Trouble walking or sitting.

*Cognitive difficulties, mainly of learning, late language development and poor articulation of words even during adulthood, reasoning problems, understanding and problem solving, some SPW phenotypes, present significant intellectual disability.

* Eating problems.

Lack of emotional regulation and poor impulse control.

Repetitive, obsessive-compulsive behaviors or both, one of the most frequent is the compulsive skin scratching.

Disorders anxiety.
Tantrums
Attacks of go to.
Search for food.

* Sleep disorders, interruptions of the normal sleep cycle, sleep apnea, when the problems are severe manifest excessive daytime sleepiness and fatigue.

Others

Endocrine problems such as: poor production of growth hormone. Occasionally, hypothyroidism or central adrenal insufficiency, thus preventing the body from responding effectively against infections and even stressful situations.

Problems regulating your body temperature.

* Hypopigmentation can make your eyes, skin and hair pale.

* Weak cry at birth.

Comorbidity

Type 2 Diabetes Mellitus (DM2)
Hypertension arterial (HT)
Lipid disorder, hyperlipidemia or hypercholesterolemia (high blood cholesterol levels)
Obstructive sleep apnea
Obesity-hypoventilation syndrome and cardiorespiratory problems because of obesity.
Osteoporosis.
Orthopedic problems
Joint problems
Knee and hip problems
* Signs and symptoms that may be present from birth.

Consequences of Discrimination

People with Prader-Willi syndrome often suffer discrimination, manifested primarily by exclusion Y bullying, usually have problems self esteem, can tend to isolation and this can worsen their moods, producing a major depression and with it greater complications.

Their behaviors can interfere with family functioning, overshadow their education, as well as their social interaction, as I was saying Saint-Exúpery: "Only with him heart it can look good; The essential is invisible to the eyes… What makes your rose more important, is the time you have spent with her”.

Inclusion & Prader-Labhart-Willi syndrome

A person 'may' have Prader-Willi syndrome, but HE: 'IT IS NOT PWS'. Let's avoid labels that exclude them from healthy social participation, as well as being treated with the respect, tolerance and dignity they deserve. ”

It is very beneficial for people with Prader-Labhart-Willi syndrome to hear that they are loved, feel accepted, contained and receive compliments ... At least at home and especially their authority figures, because they almost do not listen to such comments. Rejection and violence in the classroom is common, Many are violated and judged, as are their parents.

Treatment

Is accurate cultivate patienceFirst, for yourself, being in charge of caring for a person with SPW, whether as a father, mother or caregiver, can be a constant challenge; You can often feel anger, frustration, fatigue chronicleloneliness and depression, so it is important that both the person with Prader-Willi syndrome and their caregivers receive psychotherapeutic support.

Cognitive behavioral therapy has been shown to be functional for the modification of some behaviors, often requiring psychoactive drugs, a paidopsychiatrist It is most suitable for these purposes when they are minors, because it specializes in attending problems of childhood and adolescence. They require specialized multidisciplinary care and supervision throughout their lives, they also benefit greatly from the assistance of speech therapists, physiotherapists, endocrinologists, geneticists and other specialists as needed. The functional feeding and supplementation are indicated, however it is essential that approved and ideally recommended by the doctor of head or endocrinologist, because otherwise they could have serious complications.

Unfortunately, not all people with Prader-Willi syndrome can have access to these services, only a few privileged. Growth hormone is used to treat Prader-Willi syndrome, although it usually causes Sleep apneaas well as the hormone replacement therapy. Bioregulatory medicine, ozone therapy and homotoxicology can help counteract some of the symptoms of the disease, as well as side effects of other medications that require, also help prevent complications and relieve some others.

It is transcendental that newborns and children, have their regular consultations of 'control of the healthy child', can help caregivers to identify a problem in their development and take timely intervention actions, in order to provide them with a better quality of life

Electronics references

Prader-Willi Syndrome Association
//rarediseases.info.nih.gov/espanol/12004/sindrome-de-prader-willi
//www.fpwr.ca/101-prader-willi-syndrome-tips/
//www.ipwso.org