The prevalence of overweight and obesity represent epidemics that have several serious diseases as comorbidity; Only since 1975, obesity has almost tripled in the world, by 2016: “41 million children under five years of age had one of these two conditions” (WHO, 2016), currently, it is estimates that the figure is increasing vertiginously, many complications of Prader-Willi syndrome are due to obesity. However, the latter does not always have to do with lack of physical activity or diet, as is the case with PWS (for its acronym in English)..
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PWS is a rare genetic disorder, those who suffer from it manifest an appetite that seems to be insatiable, developing a pernicious obsession with eating almost all the time. In most cases these behaviors lead to morbid obesity. They often 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, they present hypotonia, as well as characteristic facial features; is associated with a lack or defect in the functioning of certain genes located on chromosome 15.
The estimated incidence of Prader-Willi syndrome ranges from 1: 15,000 to 1: 25,000
People with Prader-Willi syndrome have a vehement anxiety to eat and are able to do almost "anything to get food", their urgent need, sometimes forces them to lie and try to manipulate to get food. They manifest unusual behaviors to search for it, such as compulsively secretly storing it and hoarding the whole family's food in a small negligence, since they tend to have “binges” in which it is not possible to stop eating, they can even eat frozen food, waste and spoiled food ".
This is a condition caused by an error in one or more genes, it has been observed that the OCA2 gene and the snoRNAs (SNORD116) intervene, which have an important role in the syndromic picture of PWS. Why does this happen? The most frequent reason is because there is some error or defect in the paternal genes on 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 from the parents, it is caused by a phenomenon known as “imprinting” or genetic imprinting.
It is worth mentioning that the effects on chromosome 15 cause some hypothalamic functions to be interrupted, it can cause: insatiable hunger, growth below the average children of their age, problems in their sexual development, to regulate their body temperature, state disorders mood and sleep disorders, among others. Around 25% of PWS cases are due to having two copies of chromosome 15 inherited from their mother, instead of one copy from each parent, this phenomenon is called "maternal uniparental disomy".
Prader-Willi syndrome (PWS) In 1887, Lagdom-Down described the first case with PWS, calling the syndrome "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, it is considered the first human syndrome identified with genomic imprinting, it is also known as Prader-Labhart-Willi syndrome.
There are variations among people with this syndrome. The symptoms can change through the stages of the different stages of development of the subject, the main signs of PWS are:
Common clinical manifestations of Prader-Willi Syndrome | |
| Nutrition | Poor suction in * lactation. Hyperphagia or insatiable appetite, leading to severe obesity, usually from 2 years of age. Rapid weight gain between 1 to 6 years of age. |
| Musculoskeletal System | Short stature, scoliosis, * muscular hypotonia of central origin, scoliosis, flat ulnar border for hands, these, as well as their feet are usually small and have little muscle mass. |
| * Characteristic facial features | Almond-shaped eyes, narrow forehead, palate high and more arched than normal, triangular upper lip or mouth in the shape of a "carp", retroactive nose (upwards), may present myopia or strabismus. |
| Hypothalamic abnormalities | Both sexes: pubertal development absent or present with obvious delay, * hypogonadism (dysfunctional testicles or ovaries). Women: * small female genitalia, * hypoplastic labia minora, primary or secondary amenorrhea. Men: * micropenis, * hypoplastic scrotum and * cryptorchidism, this term comes from the Greek κρυπτός “kryptós” (hidden) and ορχίς “orjís” (testicle), it is a developmental disorder in which there is an incomplete descent of one or both testicles through the inguinal canal into the scrotum. Men tend to have scant facial hair and their voice often does not deepen as they grow older.. |
| Skin problems | Intertrigo in fat folds with secondary infection by candidiasis, phlebitis and ulceration of edematous legs. |
| Psychodevelopment | Delayed motor development. Trouble walking or sitting. * Cognitive difficulties, mainly learning, delayed language development and poor articulation of words even during adulthood, reasoning, understanding and problem solving problems, some PWS phenotypes, present significant intellectual disability. * Eating problems. Lack of emotional regulation and poor impulse control. Repetitive, obsessive-compulsive or both behaviors, one of the most frequent is compulsive skin scratching. Anxiety disorders. * Sleep disorders, interruptions of the normal sleep cycle, sleep apnea, when the problems are severe they manifest excessive daytime sleepiness and fatigue. |
| Others | Endocrine problems such as: poor production of growth hormone. Sometimes 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 in color. * Weak cry at birth. |
| Comorbidity | Type 2 Diabetes Mellitus (DM2) Arterial hypertension (HTN) Lipid disorder, hyperlipidemia or hypercholesterolemia (high levels of cholesterol in the blood) Obstructive sleep apnea Obesity-hypoventilation syndrome and cardiorespiratory problems caused by obesity. Osteoporosis. Orthopedic problems Joint problems Knee and hip problems |
| * Signs and symptoms that may be present from birth. |
People with Prader-Willi syndrome often suffer discrimination, manifested mainly by exclusion and bullying, they tend to have self-esteem problems, they can tend to isolation and this can worsen their moods, producing greater depression and with it greater complications.
Their behaviors can interfere with family functioning, overshadow their education, as well as their social interaction, as Saint-Exúpery said: “Only with your heart can you see well; what is essential is invisible to the eyes ... What makes your rose more important is the time you have spent with it ".
"A person 'may' have Prader-Willi syndrome, but HE: 'IS NOT PWS.' Let's avoid the labels that exclude them from healthy social participation, as well as to be 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 from their authority figures, because they hardly hear such comments. Rejection and violence in the classroom is common, many are violated and judged, as well as their parents.
It is necessary to cultivate patience, first with yourself, being in charge of the care of a person with PWS, either as a father, mother or caregiver, can be a great constant challenge; You can often feel anger, frustration, chronic fatigue, loneliness 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, they often require psychotropic drugs, a pedopsychiatrist is the most appropriate for these purposes when they are minors, since they specialize in treating childhood and adolescence problems. They require multidisciplinary care and specialized supervision throughout their lives, and they also benefit greatly from the assistance of speech therapists, physical therapists, endocrinologists, geneticists, and other specialists as needed. Functional nutrition and supplementation are indicated, however it is essential that it is approved and ideally recommended by the general practitioner or endocrinologist, as otherwise they could have serious complications.
Unfortunately, not all people with Prader-Willi syndrome can have access to these services, only a privileged few. Growth hormone is used to treat Prader-Willi syndrome, although it often causes sleep apnea, as well as hormone replacement therapy. Bioregulatory medicine, ozone therapy and homotoxicology can help to counteract some of the symptoms of the disease, as well as side effects of other medications that require, also help prevent complications and alleviate some others.
It is essential that newborns and children have their periodic 'well-child control' consultations, it 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
Prader-Willi Syndrome Association
https://rarediseases.info.nih.gov/espanol/12004/sindrome-de-prader-willi
https://www.fpwr.ca/101-prader-willi-syndrome-tips/
http://www.ipwso.org
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