In addition to the degree of intellectual disability (which is variable in each case, being mostly light or moderate), "at the level of health, the problem is the pathologies that are usually associated with Down's Syndrome", Says the health expert of the Spanish Federation of Down Syndrome (Down Spain), Pepe Borrel. The excess genetic load presented by people with trisomy 21 it causes an imbalance to arise in the way in which genes direct and regulate the development and functions of various apparatuses, organs and systems of the body; what makes them more likely to suffer certain disorders or diseases. It does not have to be always like this, they can be children with a Health good or with mild health problems, but the objective is to know what can happen to minimize it, treat it, relieve it and, whenever possible, prevent it.

"Early detection and treatment will make it possible to compensate for adverse effects," says Dr. Borrel. Many of the health problems they will have a simple resolution, but others will require medication, some physiotherapy and, in certain cases, more complicated treatments or even surgery will be necessary. The fundamental thing is to make explorations and periodic health checks.

You should also bear in mind that your child may have more difficulty to warn you that he is feeling ill and explain what happens to him. Moreover, it has been proven that many people with Down syndrome have reduced sensitivity to certain types of pain.

So, you have to pay attention to:

  • Heart problems: About half of children with Down syndrome are born with this type of problem. However, as indicated by Isidoro Candel, expert in Early Down Care Spain "Heart disease is a problem that is detected very soon; generally the surgical interventions are made in the first months and the evolution of the child is positive ".
  • Growing problems: short or short stature is a characteristic feature of trisomy that is related to growth hormone deficiency and also to certain pathologies or nutritional problems. Thus, we must monitor the weight and height during the first years of life, according to the specific growth charts for Down syndrome.
    The alterations of the thyroid gland is another factor that influences the growth (and also in the cognitive function), being habitual the hypothyroidism cases in the people with trisomy.
  • Ear and nose problems: it is common for the baby to have ear infections (otitis), earwax plugs (because it has narrow ducts), as well as hearing problems, which can affect the development of the language and also alter The conduct. It is recommended to perform an early detection of hearing loss (loss of hearing ability) in the first six months of life.
    On the other hand, congenital occlusion of the lacrimonasal duct occurs in 5-6% of infants and manifests as lacrimation and secretion before one month of age.
  • Respiratory problems: asthma, colds and other infections that affect the respiratory tract, snoring, and sleep apnea syndrome are common. The latter syndrome is caused by the obstruction of the respiratory tract, which is favored by the typical physical characteristics of Down syndrome (short neck, hypotonia of the tongue or adenoid hypertrophy ...). This generates multiple awakenings and, consequently, a restful sleep is not achieved.
  • Visual problems: The vast majority of children with Down syndrome wear glasses. And is that 75% of people with trisomy 21 have eye problems, being the most frequent strabismus, farsightedness and myopia. Cataracts can be congenital (be present from birth), or develop throughout life but, like glaucoma, can occur during childhood. Therefore, all children with Down syndrome must pass an ophthalmological examination in depth in the second year of life (including refraction and fundus) and again at four years of age: if hyperopia has not developed at this age, it is unlikely to do so later. Then the vision must be evaluated at least every two years.
  • Dental problems: this area is especially complicated, since it is physiologically conditioned. People with Down syndrome have weaker orofacial muscles, which generates that position of the slightly ajar mouth that characterizes them, in addition to an anterior displacement of the lower lip. The size of the inside of the mouth is also reduced and, therefore, the tongue seems larger (macroglossia).

Starting from here, it is common for them to have dental problems such as gingivitis (inflamed gums that bleed easily), periodontitis (the infection progresses from the gum to the bone), malocclusion and bruxism (teeth grinding). Gingivitis is very frequent, especially in children aged 3 to 9 years, as well as bruxism, which is usually more intense during the day than at night.

In addition, children with Down syndrome have a delayed tooth eruption, for genetic reasons. His first milk tooth usually appears at 14-18 months, while the rest of the children already have it at 6 or 7 months. And the permanent dentition begins about 8 years, compared to 6 years of the rest of small. The size of the teeth of children with trisomy, in comparison with the rest of children, is higher in milk teeth and lower in the permanent dentition.

To all these problems it is usual to add others bone Y joint such as unstable hips, dislocations, flat feet or scoliosis; intestinal, dermatological as xerosis (dry skin) or alopecia areata, and also neurological.

And finally, note that although there are fewer cases of cancer in people with Down syndrome, the leukemia it is an exception and is frequent in children (even before three years of age), and some studies indicate that its incidence is up to 30 times higher in children with trisomy compared with the general population of the same age.

Vaccines and Down syndrome

The vaccination It is a fairly effective resource for preventing a good number of diseases, infections and their recurrences that people with Down syndrome usually suffer, particularly during childhood (mainly of the respiratory tract). And this syndrome is usually associated with immunodeficiency multifactorial, taking into account, in addition, that there are certain factors that reduce the immunogenicity of vaccines such as obesity or celiac disease.

So, the Spanish Federation Down Syndrome (FEISD) and the Catalan Down Syndrome Foundation (FCSD), with the collaboration and consensus of the Vaccine Committee of the Spanish Association of Pediatrics (CAV-AEP) and the Spanish Association of Vacunology (AEV), have developed a own vaccination calendar for people with Down syndrome, which should be considered as complementary to the vaccination schedules in force in Spain, especially that of the AEP, on which it has been based. In this way, there are specific recommendations such as, for example, that vaccines pneumococcal and that of the Hepatitis A, until now not included or only included in some autonomous childhood immunization schedules, are especially indicated in people with trisomy and should be administered systematically, since Down syndrome is considered a risk factor for developing a pneumococcal disease invasive Children with this syndrome often suffer from acute otitis media, sinusitis and pneumonia, with the pneumococcus being the main responsible for these processes. The recommendation of this calendar is begin vaccination at two months of age.

As for hepatitis A, the usual assistance of children with Down syndrome to specialized centers favors the horizontal transmission of the virus that causes this disease. In addition, a coinfection could occur in patients with chronic hepatitis B (to which he predisposes Down syndrome), which would acquire a special severity. In this case it is advisable to start vaccination at 12 months old.

Finally, it is essential to comply with the systematic vaccination guidelines established in each community in a strict manner.

The Truth About Down Syndrome (September 2019).