Intellectual disability (ID), also known as general learning disability and  mental retardation (MR), is a generalized neurodevelopmental disorder characterized by significantly impaired intellectual and adaptive functioning. It is defined by an IQ under 70, in addition to deficits in two or more adaptive behaviors that affect everyday, general living.

Once focused almost entirely on cognition, the definition now includes both a component relating to mental functioning and one relating to an individual's ...

intellectual disability

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Author: Silvia Marinova, PhD student in the Genomic Stability Laboratory at BAS

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We have repeatedly written about what genetics is, as well as some of the concepts associated with it. In <a href="/p/kak_ghienitie_opriedieliat_prilikata_s_roditielitie_ni_2256bb0a_9ee8_4d00_8f3e_7ca44b90aa45" target="_blank" rel="noreferrer"></a> the article <a href="/p/kak_ghienitie_opriedieliat_prilikata_s_roditielitie_ni_2256bb0a_9ee8_4d00_8f3e_7ca44b90aa45" target="_blank" rel="noreferrer">How genes determine who we are</a> [ref.1] you will find out more about what is heredity, why we look like our parents and how changes in genes can lead to the appearance of serious malformations and diseases.

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In the current article we will say more about some common genetic syndromes..

What-is-genetic-disease

What is genetic disease

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Genetic diseases are due in part or entirely to changes in DNA that may affect one or more genes. Generally speaking, they are caused by mutations in one gene (monogenic diseases), mutations in more than one gene (multifactorial or polygenic diseases), changes in the structure or number of chromosomes (chromosomal aberrations), a combination of genetic factors and environmental factors.

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It is important to understand that genetic diseases can be inherited by our parents, but they can also occur spontaneously.

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When a genetic disease is present from birth and there are more than one identifying symptoms, then we speak of a genetic syndrome. The child may have birth defects such as impaired function of certain organs (such as the heart or kidneys) or neurological symptoms.

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The following are 7 genetic syndromes and a short description of the cause of them and their symptoms, some of which are more common and others are less common.

What-is-Angelman-syndrome

What is Angelman syndrome

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Angelman syndrome is a rare genetic disease that occurs at a frequency of 1 in 12,000 to 1 in 20,000 newborns. It is due to deletion of the <a href="https://medlineplus.gov/genetics/gene/ube3a/" target="_blank" rel="noopener">UBE3A gene</a> [ref.2].

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The condition mainly affects the nervous system.

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Typical facial changes are observed. There is serious mental retardation, problems with speech and communication, ataxia (lack of coordination of will movements), as well as characteristic behavior (unprovoked bursts of laughter).

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Some additional symptoms may include seizures and difficulty sleeping.

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<figure><img class="tinyMCEImg" src="https://d20hztklr4qnvi.cloudfront.net/18834b3a-817a-4835-9767-f365a11b339b_middle.png" border="0" alt="angelman syndrome" title="A 5-year-old girl with Angelman syndrome. Credit: Yokoyama-Rebollar E, Ruiz-Herrera A, Lieberman-Hernández E, Del Castillo-Ruiz V, Sánchez-Sandoval S, Ávila-Flores SM, Castrillo JL - Mol Cytogenet (2015)">
<figcaption>A 5-year-old girl with Angelman syndrome. Credit: Yokoyama-Rebollar E, Ruiz-Herrera A, Lieberman-Hernández E, Del Castillo-Ruiz V, Sánchez-Sandoval S, Ávila-Flores SM, Castrillo JL - Mol Cytogenet (2015)</figcaption>
</figure>

What-is-fragile-X-syndrome

What is fragile X syndrome

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It is also known as Martin-Bell syndrome. The incidence of this disease is 1 in 4,000 newborns in men and 1 in 8,000 in women and is due <a href="https://medlineplus.gov/genetics/gene/fmr1/" target="_blank" rel="noopener">to a defect in the FMR1</a> gene [ref.3] found on the X chromosome.

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Due to the fact that men have only one X chromosome, the disease manifests in a more severe form in them. Thanks to the compensatory effect of the second one in women, usually the symptoms are milder.

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Characteristic is a mental retardation - as well as specific physical characteristics - an elongated face, an enlarged forehead, protruding ears, but those features develop gradually and become more noticeable over time.

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Curious about the more widely known name of the disease, namely fragile X syndrome, is that in some people suffering from it, it is actually observed that a fragment of the chromosome is "broken off" (though not completely detached).

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<figure><img class="tinyMCEImg" src="https://d20hztklr4qnvi.cloudfront.net/4b21c90f-dbe0-4318-b8cc-2045b08f0aa7_middle.jpg" border="0" alt="A boy with brittle X chromosome syndrome. Credit: Peter Saxon, Wikipedia " title="A boy with brittle X chromosome syndrome. Credit: Peter Saxon, Wikipedia ">
<figcaption>A boy with fragile X syndrome. Credit: Peter Saxon, Wikipedia</figcaption>
</figure>

What-is-Down-syndrome

What is Down syndrome

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Down's syndrome is due to trisomy of the 21th chromosome - meaning the individual has three copies of it instead of just two. The incidence of the disease is quite high - about 1 in 1,000 newborns suffer from Down syndrome.

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Some children also have so-called mosaicism. This means that not all cells have an additional chromosome, which usually means a milder manifestation of symptoms. A third variation of the disease is the translocation form.

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Distinctive features are flat face, almond-shaped eyes, tongue that is protruding out of the mouth, etc. Often children are born with heart defects, develop ear infections and problems with vision and hearing, etc.

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<figure><img class="tinyMCEImg" src="https://d20hztklr4qnvi.cloudfront.net/93789e2b-4dd8-4385-8bb7-a1f6fcb6b745_middle.jpg" border="0" alt="Dum syndrome" title="Boy with Down syndrome">
<figcaption>Boy with Down syndrome</figcaption>
</figure>

Tay-Sachs-syndrome

Tay-Sachs syndrome

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The disease is autosomal recessive, which means that the child has to inherit a <a href="https://medlineplus.gov/genetics/gene/hexa/" target="_blank" rel="noopener">defective copy of the HEXA</a> gene [ref.4] from both parents. Thay-Sachs syndrome is more common in some groups of people, but in general its incidence is very low.

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It leads to progressive destruction of nerve cells in the central nervous system. Usually, the first problems begin to manifest between the third and sixth months after birth.

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Children's mental development slows down, the muscles gradually weaken and they lose the ability to sit, crawl and turn. Followed by seizures, hearing and vision loss, paralysis. Unfortunately, children with this severe form of the disease survive only until early childhood. There is also a lighter form, which is very rare.

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What-is-Williams-syndrome

What is Williams syndrome

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The syndrome affects 1 in <a href="https://rarediseases.org/rare-diseases/williams-syndrome/%D0%B0,%20%D0%BA%D0%BE%D0%B5%D1%82%D0%BE%20%D0%BE%D0%B7%D0%BD%D0%B0%D1%87%D0%B0%D0%B2%D0%B0,%20%D1%87%D0%B5%20%D0%B8%D0%BD%D0%B4%D0%B8%D0%B2%D0%B8%D0%B4%D1%8A%D1%82%20%D0%B8%D0%BC%D0%B0%203%20%D0%BA%D0%BE%D0%BF%D0%B8%D1%8F%20%D0%BE%D1%82%20%D0%BD%D0%B5%D1%8F%20%D0%B2%D0%BC%D0%B5%D1%81%D1%82%D0%BE%20%D1%81%D0%B0%D0%BC%D0%BE%20%D0%B4%D0%B2%D0%B5.%20%D0%A7%D0%B5%D1%81%D1%82%D0%BE%D1%82%D0%B0%D1%82%D0%B0%20%D0%BD%D0%B0%20%D0%B7%D0%B0%D0%B1%D0%BE%D0%BB%D1%8F%D0%B2%D0%B0%D0%BD%D0%B5%D1%82%D0%BE%20%D0%B5%20%D0%B4%D0%BE%D1%81%D1%82%D0%B0%20%D0%B3%D0%BE%D0%BB%D1%8F%D0%BC%D0%B0%20-%20%D0%BE%D0%BA%D0%BE%D0%BB%D0%BE%201%20%D0%BD%D0%B0%201000%20%D0%BD%D0%BE%D0%B2%D0%BE%D1%80%D0%BE%D0%B4%D0%B5%D0%BD%D0%B8%20%D1%81%D1%82%D1%80%D0%B0%D0%B4%D0%B0%D1%82%20%D0%BE%D1%82%20%D1%81%D0%B8%D0%BD%D0%B4%D1%80%D0%BE%D0%BC%20%D0%BD%D0%B0%20%D0%94%D0%B0%D1%83%D0%BD.%20%D0%9D%D1%8F%D0%BA%D0%BE%D0%B8%20%D0%B4%D0%B5%D1%86%D0%B0%20%D0%B8%D0%BC%D0%B0%D1%82%20%D0%B8%20%D1%82%D0%B0%D0%BA%D0%B0%20%D0%BD%D0%B0%D1%80%D0%B5%D1%87%D0%B5%D0%BD%D0%B8%D1%8F%20%D0%BC%D0%BE%D0%B7%D0%B0%D0%B8%D1%86%D0%B8%D0%B7%D1%8A%D0%BC.%20%D0%A2%D0%BE%D0%B2%D0%B0%20%D0%BE%D0%B7%D0%BD%D0%B0%D1%87%D0%B0%D0%B2%D0%B0,%20%D1%87%D0%B5%20%D0%BD%D0%B5%20%D0%B2%D1%81%D0%B8%D1%87%D0%BA%D0%B8%20%D0%BA%D0%BB%D0%B5%D1%82%D0%BA%D0%B8%20%D0%B8%D0%BC%D0%B0%D1%82%20%D0%B4%D0%BE%D0%BF%D1%8A%D0%BB%D0%BD%D0%B8%D1%82%D0%B5%D0%BB%D0%BD%D0%B0%20%D1%85%D1%80%D0%BE%D0%BC%D0%BE%D0%B7%D0%BE%D0%BC%D0%B0,%20%D0%BA%D0%BE%D0%B5%D1%82%D0%BE%20%D0%BE%D0%B1%D0%B8%D0%BA%D0%BD%D0%BE%D0%B2%D0%B5%D0%BD%D0%BE%20%D0%B7%D0%BD%D0%B0%D1%87%D0%B8%20%D0%B8%20%D0%BF%D0%BE-%D0%BB%D0%B5%D0%BA%D0%B0%20%D0%BF%D1%80%D0%BE%D1%8F%D0%B2%D0%B0%20%D0%BD%D0%B0%20%D1%81%D0%B8%D0%BC%D0%BF%D1%82%D0%BE%D0%BC%D0%B8%D1%82%D0%B5.%20%D0%A2%D1%80%D0%B5%D1%82%D0%B0%20%D0%B2%D0%B0%D1%80%D0%B8%D0%B0%D1%86%D0%B8%D1%8F%20%20%D0%BD%D0%B0%20%D0%B7%D0%B0%D0%B1%D0%BE%D0%BB%D1%8F%D0%B2%D0%B0%D0%BD%D0%B5%D1%82%D0%BE%20%D0%B5%20%D1%82%D1%80%D0%B0%D0%BD%D1%81%D0%BB%D0%BE%D0%BA%D0%B0%D1%86%D0%B8%D0%BE%D0%BD%D0%BD%D0%B0%D1%82%D0%B0%20%D1%84%D0%BE%D1%80%D0%BC%D0%B0.%20%D0%9E%D1%82%D0%BB%D0%B8%D1%87%D0%B8%D1%82%D0%B5%D0%BB%D0%BD%D0%B8%20%D0%B1%D0%B5%D0%BB%D0%B5%D0%B7%D0%B8%20%D1%81%D0%B0%20%D0%BF%D0%BB%D0%BE%D1%81%D0%BA%D0%BE%20%D0%BB%D0%B8%D1%86%D0%B5,%20%D0%B1%D0%B0%D0%B4%D0%B5%D0%BC%D0%BE%D0%B2%D0%B8%D0%B4%D0%BD%D0%B8%20%D0%B8%D0%B7%D0%B4%D0%B0%D0%B4%D0%B5%D0%BD%D0%B8%20%D0%BE%D1%87%D0%B8,%20%D0%B5%D0%B7%D0%B8%D0%BA,%20%D0%BA%D0%BE%D0%B9%D1%82%D0%BE%20%D1%81%D0%B5%20%D0%BF%D0%BE%D0%B4%D0%B0%D0%B2%D0%B0%20%D0%B8%D0%B7%D0%B2%D1%8A%D0%BD%20%D1%83%D1%81%D1%82%D0%B0%D1%82%D0%B0%20%D0%B8%20%D0%B4%D1%80.%20%D0%A7%D0%B5%D1%81%D1%82%D0%BE%20%D0%B4%D0%B5%D1%86%D0%B0%D1%82%D0%B0%20%D1%81%D0%B5%20%D1%80%D0%B0%D0%B6%D0%B4%D0%B0%D1%82%20%D1%81%D1%8A%D1%81%20%D1%81%D1%8A%D1%80%D0%B4%D0%B5%D1%87%D0%BD%D0%B8%20%D0%B4%D0%B5%D1%84%D0%B5%D0%BA%D1%82%D0%B8,%20%D1%80%D0%B0%D0%B7%D0%B2%D0%B8%D0%B2%D0%B0%D1%82%20%D1%83%D1%88%D0%BD%D0%B8%20%D0%B8%D0%BD%D1%84%D0%B5%D0%BA%D1%86%D0%B8%D0%B8%20%D0%B8%20%D0%BF%D1%80%D0%BE%D0%B1%D0%BB%D0%B5%D0%BC%D0%B8%20%D1%81%D1%8A%D1%81%20%D0%B7%D1%80%D0%B5%D0%BD%D0%B8%D0%B5%D1%82%D0%BE%20%D0%B8%20%D1%81%D0%BB%D1%83%D1%85%D0%B0%20%D0%B8%20%D0%B4%D1%80.%20%20%D0%A1%D0%B8%D0%BD%D0%B4%D1%80%D0%BE%D0%BC%20%D0%BD%D0%B0%20%D0%A2%D0%B0%D0%B9-%D0%A1%D0%B0%D0%BA%D1%81%20%D0%97%D0%B0%D0%B1%D0%BE%D0%BB%D1%8F%D0%B2%D0%B0%D0%BD%D0%B5%D1%82%D0%BE%20%D0%B5%20%D0%B0%D0%B2%D1%82%D0%BE%D0%B7%D0%BE%D0%BC%D0%BD%D0%BE%20%D1%80%D0%B5%D1%86%D0%B5%D1%81%D0%B8%D0%B2%D0%BD%D0%BE,%20%D0%BA%D0%BE%D0%B5%D1%82%D0%BE%20%D0%BE%D0%B7%D0%BD%D0%B0%D1%87%D0%B0%D0%B2%D0%B0,%20%D1%87%D0%B5%20%D0%B4%D0%B5%D1%82%D0%B5%D1%82%D0%BE%20%D1%82%D1%80%D1%8F%D0%B1%D0%B2%D0%B0%20%D0%B4%D0%B0%20%D1%83%D0%BD%D0%B0%D1%81%D0%BB%D0%B5%D0%B4%D0%B8%20%D0%B4%D0%B5%D1%84%D0%B5%D0%BA%D1%82%D0%BD%D0%BE%20%D0%BA%D0%BE%D0%BF%D0%B8%D0%B5%20%D0%BD%D0%B0%20HEXA%20%D0%B3%D0%B5%D0%BD%D0%B0%20[ref.4]%20%D0%B8%20%D0%BE%D1%82%20%D0%B4%D0%B2%D0%B0%D0%BC%D0%B0%D1%82%D0%B0%20%D1%80%D0%BE%D0%B4%D0%B8%D1%82%D0%B5%D0%BB%D0%B8.%20%D0%A1%D0%B8%D0%BD%D0%B4%D1%80%D0%BE%D0%BC%D1%8A%D1%82%20%D0%BD%D0%B0%20%D0%A2%D0%B0%D0%B9-%D0%A1%D0%B0%D0%BA%D1%81%20%D1%81%D0%B5%20%D1%81%D1%80%D0%B5%D1%89%D0%B0%20%D0%BF%D0%BE-%D1%87%D0%B5%D1%81%D1%82%D0%BE%20%D0%BF%D1%80%D0%B8%20%D0%BD%D1%8F%D0%BA%D0%BE%D0%B8%20%D0%B3%D1%80%D1%83%D0%BF%D0%B8%20%D1%85%D0%BE%D1%80%D0%B0,%20%D0%BD%D0%BE%20%D0%BA%D0%B0%D1%82%D0%BE%20%D1%86%D1%8F%D0%BB%D0%BE%20%D1%87%D0%B5%D1%81%D1%82%D0%BE%D1%82%D0%B0%D1%82%D0%B0%20%D0%BC%D1%83%20%D0%B5%20%D0%BC%D0%BD%D0%BE%D0%B3%D0%BE%20%D0%BD%D0%B8%D1%81%D0%BA%D0%B0.%20%20%D0%92%D0%BE%D0%B4%D0%B8%20%D0%B4%D0%BE%20%D0%BF%D1%80%D0%BE%D0%B3%D1%80%D0%B5%D1%81%D0%B8%D0%B2%D0%BD%D0%BE%20%D1%80%D0%B0%D0%B7%D1%80%D1%83%D1%88%D0%B0%D0%B2%D0%B0%D0%BD%D0%B5%20%D0%BD%D0%B0%20%D0%BD%D0%B5%D1%80%D0%B2%D0%BD%D0%B8%D1%82%D0%B5%20%D0%BA%D0%BB%D0%B5%D1%82%D0%BA%D0%B8%20%D0%B2%20%D1%86%D0%B5%D0%BD%D1%82%D1%80%D0%B0%D0%BB%D0%BD%D0%B0%D1%82%D0%B0%20%D0%BD%D0%B5%D1%80%D0%B2%D0%BD%D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target="_blank" rel="noopener"></a> 20,000 children. It is characteristic that the reason for its appearance is accidental, although there are cases of family burden. It is due to a deletion of genes from a specific region in chromosome 7 (7q.11.23) [<a href="https://rarediseases.org/rare-diseases/williams-syndrome/%D0%B0,%20%D0%BA%D0%BE%D0%B5%D1%82%D0%BE%20%D0%BE%D0%B7%D0%BD%D0%B0%D1%87%D0%B0%D0%B2%D0%B0,%20%D1%87%D0%B5%20%D0%B8%D0%BD%D0%B4%D0%B8%D0%B2%D0%B8%D0%B4%D1%8A%D1%82%20%D0%B8%D0%BC%D0%B0%203%20%D0%BA%D0%BE%D0%BF%D0%B8%D1%8F%20%D0%BE%D1%82%20%D0%BD%D0%B5%D1%8F%20%D0%B2%D0%BC%D0%B5%D1%81%D1%82%D0%BE%20%D1%81%D0%B0%D0%BC%D0%BE%20%D0%B4%D0%B2%D0%B5.%20%D0%A7%D0%B5%D1%81%D1%82%D0%BE%D1%82%D0%B0%D1%82%D0%B0%20%D0%BD%D0%B0%20%D0%B7%D0%B0%D0%B1%D0%BE%D0%BB%D1%8F%D0%B2%D0%B0%D0%BD%D0%B5%D1%82%D0%BE%20%D0%B5%20%D0%B4%D0%BE%D1%81%D1%82%D0%B0%20%D0%B3%D0%BE%D0%BB%D1%8F%D0%BC%D0%B0%20-%20%D0%BE%D0%BA%D0%BE%D0%BB%D0%BE%201%20%D0%BD%D0%B0%201000%20%D0%BD%D0%BE%D0%B2%D0%BE%D1%80%D0%BE%D0%B4%D0%B5%D0%BD%D0%B8%20%D1%81%D1%82%D1%80%D0%B0%D0%B4%D0%B0%D1%82%20%D0%BE%D1%82%20%D1%81%D0%B8%D0%BD%D0%B4%D1%80%D0%BE%D0%BC%20%D0%BD%D0%B0%20%D0%94%D0%B0%D1%83%D0%BD.%20%D0%9D%D1%8F%D0%BA%D0%BE%D0%B8%20%D0%B4%D0%B5%D1%86%D0%B0%20%D0%B8%D0%BC%D0%B0%D1%82%20%D0%B8%20%D1%82%D0%B0%D0%BA%D0%B0%20%D0%BD%D0%B0%D1%80%D0%B5%D1%87%D0%B5%D0%BD%D0%B8%D1%8F%20%D0%BC%D0%BE%D0%B7%D0%B0%D0%B8%D1%86%D0%B8%D0%B7%D1%8A%D0%BC.%20%D0%A2%D0%BE%D0%B2%D0%B0%20%D0%BE%D0%B7%D0%BD%D0%B0%D1%87%D0%B0%D0%B2%D0%B0,%20%D1%87%D0%B5%20%D0%BD%D0%B5%20%D0%B2%D1%81%D0%B8%D1%87%D0%BA%D0%B8%20%D0%BA%D0%BB%D0%B5%D1%82%D0%BA%D0%B8%20%D0%B8%D0%BC%D0%B0%D1%82%20%D0%B4%D0%BE%D0%BF%D1%8A%D0%BB%D0%BD%D0%B8%D1%82%D0%B5%D0%BB%D0%BD%D0%B0%20%D1%85%D1%80%D0%BE%D0%BC%D0%BE%D0%B7%D0%BE%D0%BC%D0%B0,%20%D0%BA%D0%BE%D0%B5%D1%82%D0%BE%20%D0%BE%D0%B1%D0%B8%D0%BA%D0%BD%D0%BE%D0%B2%D0%B5%D0%BD%D0%BE%20%D0%B7%D0%BD%D0%B0%D1%87%D0%B8%20%D0%B8%20%D0%BF%D0%BE-%D0%BB%D0%B5%D0%BA%D0%B0%20%D0%BF%D1%80%D0%BE%D1%8F%D0%B2%D0%B0%20%D0%BD%D0%B0%20%D1%81%D0%B8%D0%BC%D0%BF%D1%82%D0%BE%D0%BC%D0%B8%D1%82%D0%B5.%20%D0%A2%D1%80%D0%B5%D1%82%D0%B0%20%D0%B2%D0%B0%D1%80%D0%B8%D0%B0%D1%86%D0%B8%D1%8F%20%20%D0%BD%D0%B0%20%D0%B7%D0%B0%D0%B1%D0%BE%D0%BB%D1%8F%D0%B2%D0%B0%D0%BD%D0%B5%D1%82%D0%BE%20%D0%B5%20%D1%82%D1%80%D0%B0%D0%BD%D1%81%D0%BB%D0%BE%D0%BA%D0%B0%D1%86%D0%B8%D0%BE%D0%BD%D0%BD%D0%B0%D1%82%D0%B0%20%D1%84%D0%BE%D1%80%D0%BC%D0%B0.%20%D0%9E%D1%82%D0%BB%D0%B8%D1%87%D0%B8%D1%82%D0%B5%D0%BB%D0%BD%D0%B8%20%D0%B1%D0%B5%D0%BB%D0%B5%D0%B7%D0%B8%20%D1%81%D0%B0%20%D0%BF%D0%BB%D0%BE%D1%81%D0%BA%D0%BE%20%D0%BB%D0%B8%D1%86%D0%B5,%20%D0%B1%D0%B0%D0%B4%D0%B5%D0%BC%D0%BE%D0%B2%D0%B8%D0%B4%D0%BD%D0%B8%20%D0%B8%D0%B7%D0%B4%D0%B0%D0%B4%D0%B5%D0%BD%D0%B8%20%D0%BE%D1%87%D0%B8,%20%D0%B5%D0%B7%D0%B8%D0%BA,%20%D0%BA%D0%BE%D0%B9%D1%82%D0%BE%20%D1%81%D0%B5%20%D0%BF%D0%BE%D0%B4%D0%B0%D0%B2%D0%B0%20%D0%B8%D0%B7%D0%B2%D1%8A%D0%BD%20%D1%83%D1%81%D1%82%D0%B0%D1%82%D0%B0%20%D0%B8%20%D0%B4%D1%80.%20%D0%A7%D0%B5%D1%81%D1%82%D0%BE%20%D0%B4%D0%B5%D1%86%D0%B0%D1%82%D0%B0%20%D1%81%D0%B5%20%D1%80%D0%B0%D0%B6%D0%B4%D0%B0%D1%82%20%D1%81%D1%8A%D1%81%20%D1%81%D1%8A%D1%80%D0%B4%D0%B5%D1%87%D0%BD%D0%B8%20%D0%B4%D0%B5%D1%84%D0%B5%D0%BA%D1%82%D0%B8,%20%D1%80%D0%B0%D0%B7%D0%B2%D0%B8%D0%B2%D0%B0%D1%82%20%D1%83%D1%88%D0%BD%D0%B8%20%D0%B8%D0%BD%D1%84%D0%B5%D0%BA%D1%86%D0%B8%D0%B8%20%D0%B8%20%D0%BF%D1%80%D0%BE%D0%B1%D0%BB%D0%B5%D0%BC%D0%B8%20%D1%81%D1%8A%D1%81%20%D0%B7%D1%80%D0%B5%D0%BD%D0%B8%D0%B5%D1%82%D0%BE%20%D0%B8%20%D1%81%D0%BB%D1%83%D1%85%D0%B0%20%D0%B8%20%D0%B4%D1%80.%20%20%D0%A1%D0%B8%D0%BD%D0%B4%D1%80%D0%BE%D0%BC%20%D0%BD%D0%B0%20%D0%A2%D0%B0%D0%B9-%D0%A1%D0%B0%D0%BA%D1%81%20%D0%97%D0%B0%D0%B1%D0%BE%D0%BB%D1%8F%D0%B2%D0%B0%D0%BD%D0%B5%D1%82%D0%BE%20%D0%B5%20%D0%B0%D0%B2%D1%82%D0%BE%D0%B7%D0%BE%D0%BC%D0%BD%D0%BE%20%D1%80%D0%B5%D1%86%D0%B5%D1%81%D0%B8%D0%B2%D0%BD%D0%BE,%20%D0%BA%D0%BE%D0%B5%D1%82%D0%BE%20%D0%BE%D0%B7%D0%BD%D0%B0%D1%87%D0%B0%D0%B2%D0%B0,%20%D1%87%D0%B5%20%D0%B4%D0%B5%D1%82%D0%B5%D1%82%D0%BE%20%D1%82%D1%80%D1%8F%D0%B1%D0%B2%D0%B0%20%D0%B4%D0%B0%20%D1%83%D0%BD%D0%B0%D1%81%D0%BB%D0%B5%D0%B4%D0%B8%20%D0%B4%D0%B5%D1%84%D0%B5%D0%BA%D1%82%D0%BD%D0%BE%20%D0%BA%D0%BE%D0%BF%D0%B8%D0%B5%20%D0%BD%D0%B0%20HEXA%20%D0%B3%D0%B5%D0%BD%D0%B0%20[ref.4]%20%D0%B8%20%D0%BE%D1%82%20%D0%B4%D0%B2%D0%B0%D0%BC%D0%B0%D1%82%D0%B0%20%D1%80%D0%BE%D0%B4%D0%B8%D1%82%D0%B5%D0%BB%D0%B8.%20%D0%A1%D0%B8%D0%BD%D0%B4%D1%80%D0%BE%D0%BC%D1%8A%D1%82%20%D0%BD%D0%B0%20%D0%A2%D0%B0%D0%B9-%D0%A1%D0%B0%D0%BA%D1%81%20%D1%81%D0%B5%20%D1%81%D1%80%D0%B5%D1%89%D0%B0%20%D0%BF%D0%BE-%D1%87%D0%B5%D1%81%D1%82%D0%BE%20%D0%BF%D1%80%D0%B8%20%D0%BD%D1%8F%D0%BA%D0%BE%D0%B8%20%D0%B3%D1%80%D1%83%D0%BF%D0%B8%20%D1%85%D0%BE%D1%80%D0%B0,%20%D0%BD%D0%BE%20%D0%BA%D0%B0%D1%82%D0%BE%20%D1%86%D1%8F%D0%BB%D0%BE%20%D1%87%D0%B5%D1%81%D1%82%D0%BE%D1%82%D0%B0%D1%82%D0%B0%20%D0%BC%D1%83%20%D0%B5%20%D0%BC%D0%BD%D0%BE%D0%B3%D0%BE%20%D0%BD%D0%B8%D1%81%D0%BA%D0%B0.%20%20%D0%92%D0%BE%D0%B4%D0%B8%20%D0%B4%D0%BE%20%D0%BF%D1%80%D0%BE%D0%B3%D1%80%D0%B5%D1%81%D0%B8%D0%B2%D0%BD%D0%BE%20%D1%80%D0%B0%D0%B7%D1%80%D1%83%D1%88%D0%B0%D0%B2%D0%B0%D0%BD%D0%B5%20%D0%BD%D0%B0%20%D0%BD%D0%B5%D1%80%D0%B2%D0%BD%D0%B8%D1%82%D0%B5%20%D0%BA%D0%BB%D0%B5%D1%82%D0%BA%D0%B8%20%D0%B2%20%D1%86%D0%B5%D0%BD%D1%82%D1%80%D0%B0%D0%BB%D0%BD%D0%B0%D1%82%D0%B0%20%D0%BD%D0%B5%D1%80%D0%B2%D0%BD%D0%B0%20%D1%81%D0%B8%D1%81%D1%82%D0%B5%D0%BC%D0%B0.%20%D0%9E%D0%B1%D0%B8%D0%BA%D0%BD%D0%BE%D0%B2%D0%B5%D0%BD%D0%BE%20%D0%BF%D1%8A%D1%80%D0%B2%D0%B8%D1%82%D0%B5%20%D0%BF%D1%80%D0%BE%D0%B1%D0%BB%D0%B5%D0%BC%D0%B8%20%D0%B7%D0%B0%D0%BF%D0%BE%D1%87%D0%B2%D0%B0%D1%82%20%D0%B4%D0%B0%20%D1%81%D0%B5%20%D0%BF%D1%80%D0%BE%D1%8F%D0%B2%D1%8F%D0%B2%D0%B0%D1%82%20%D0%BC%D0%B5%D0%B6%D0%B4%D1%83%20%D1%82%D1%80%D0%B5%D1%82%D0%B8%D1%8F%20%D0%B8%20%D1%88%D0%B5%D1%81%D1%82%D0%B8%D1%8F%20%D0%BC%D0%B5%D1%81%D0%B5%D1%86%20%D1%81%D0%BB%D0%B5%D0%B4%20%D1%80%D0%B0%D0%B6%D0%B4%D0%B0%D0%BD%D0%B5%D1%82%D0%BE.%20%D0%A3%D0%BC%D1%81%D1%82%D0%B2%D0%B5%D0%BD%D0%BE%D1%82%D0%BE%20%D1%80%D0%B0%D0%B7%D0%B2%D0%B8%D1%82%D0%B8%D0%B5%20%D0%BD%D0%B0%20%D0%B4%D0%B5%D1%86%D0%B0%D1%82%D0%B0%20%D1%81%D0%B5%20%D0%B7%D0%B0%D0%B1%D0%B0%D0%B2%D1%8F,%20%D0%BC%D1%83%D1%81%D0%BA%D1%83%D0%BB%D0%B8%D1%82%D0%B5%20%D0%BF%D0%BE%D1%81%D1%82%D0%B5%D0%BF%D0%B5%D0%BD%D0%BD%D0%BE%20%D0%BE%D1%82%D1%81%D0%BB%D0%B0%D0%B1%D0%B2%D0%B0%D1%82%20%D0%B8%20%D1%82%D0%B5%20%D0%B7%D0%B0%D0%B3%D1%83%D0%B1%D0%B2%D0%B0%D1%82%20%D1%81%D0%BF%D0%BE%D1%81%D0%BE%D0%B1%D0%BD%D0%BE%D1%81%D1%82%D1%82%D0%B0%20%D1%81%D0%B8%20%D0%B4%D0%B0%20%D1%81%D0%B5%D0%B4%D1%8F%D1%82,%20%D0%B4%D0%B0%20%D0%BF%D1%8A%D0%BB%D0%B7%D1%8F%D1%82%20%D0%B8%20%D0%B4%D0%B0%20%D1%81%D0%B5%20%D0%BE%D0%B1%D1%80%D1%8A%D1%89%D0%B0%D1%82.%20%D0%A1%D0%BB%D0%B5%D0%B4%D0%B2%D0%B0%D1%82%20%D0%BF%D1%80%D0%B8%D0%BF%D0%B0%D0%B4%D1%8A%D1%86%D0%B8,%20%D0%B7%D0%B0%D0%B3%D1%83%D0%B1%D0%B0%20%D0%BD%D0%B0%20%D1%81%D0%BB%D1%83%D1%85%D0%B0%20%D0%B8%20%D0%B7%D1%80%D0%B5%D0%BD%D0%B8%D0%B5%D1%82%D0%BE,%20%D0%BF%D0%B0%D1%80%D0%B0%D0%BB%D0%B8%D0%B7%D0%B0.%20%D0%97%D0%B0%20%D1%81%D1%8A%D0%B6%D0%B0%D0%BB%D0%B5%D0%BD%D0%B8%D0%B5%20%D0%B4%D0%B5%D1%86%D0%B0%D1%82%D0%B0%20%D1%81%20%D1%82%D0%B0%D0%B7%D0%B8%20%D1%82%D0%B5%D0%B6%D0%BA%D0%B0%20%D1%84%D0%BE%D1%80%D0%BC%D0%B0%20%D0%BD%D0%B0%20%D0%B7%D0%B0%D0%B1%D0%BE%D0%BB%D1%8F%D0%B2%D0%B0%D0%BD%D0%B5%D1%82%D0%BE%20%D0%BF%D1%80%D0%B5%D0%B6%D0%B8%D0%B2%D1%8F%D0%B2%D0%B0%D1%82%20%D1%81%D0%B0%D0%BC%D0%BE%20%D0%B4%D0%BE%20%D1%80%D0%B0%D0%BD%D0%BD%D0%BE%20%D0%B4%D0%B5%D1%82%D1%81%D1%82%D0%B2%D0%BE.%20%D0%98%D0%BC%D0%B0%20%D0%B8%20%D0%BF%D0%BE-%D0%BB%D0%B5%D0%BA%D0%B0%20%D1%84%D0%BE%D1%80%D0%BC%D0%B0,%20%D0%BA%D0%BE%D1%8F%D1%82%D0%BE%20%D0%B5%20%D0%BC%D0%BD%D0%BE%D0%B3%D0%BE%20%D1%80%D1%8F%D0%B4%D0%BA%D0%B0." target="_blank" rel="noopener">ref.5</a>].

What-is-Williams-syndrome_5_1

In this disease, there is a slowdown in growth both before and after birth. People who suffer from it may experience varying degrees of intellectual disability. Characteristic features are also observed, which become more and more pronounced over time. In general, physical symptoms can vary widely and manifest differently in different individuals.

What-is-Williams-syndrome_5_2

<figure><img class="tinyMCEImg" src="https://d20hztklr4qnvi.cloudfront.net/e81085e0-60c1-470b-9aeb-612db8a0f2ed_middle.jpg" border="0" alt="Williams syndrome" title="Williams syndrome">
<figcaption>Williams syndrome. Credit: E. A. Nikitina, A. V. Medvedeva, G. A. Zakharov, and E. V. Savvateeva-Popova, 2014 Park-media Ltd - <a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3999462/figure/F1/" target="_blank" rel="noopener">https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3999462/figure/F1/</a></figcaption>
</figure>

What-is-Turner-syndrome

What is Turner syndrome

What-is-Turner-syndrome_6_0

Turner's syndrome is named after Dr. Henry Turner, who describes the disease for the first time. It is among the most common genetic diseases in women and affects only them. It is due to partial or total loss of one of the X chromosomes.

What-is-Turner-syndrome_6_1

Interestingly, this is the only survivable monosomy in a person. Potentially affected women may develop many symptoms affecting different organs and systems. Mental development is usually not delayed, but it is possible to experience learning difficulties. Women are infertile.

What-is-Turner-syndrome_6_2

What-is-Prader-Willi-syndrome

What is Prader-Willi syndrome

What-is-Prader-Willi-syndrome_7_0

This syndrome occurs in 1 in 12,000 to 1 in 15,000 children.

What-is-Prader-Willi-syndrome_7_1

In newborns, low muscle tone, lethargy, difficulty sucking and feeding, weight below the norm is observed. It is characteristic of sufferers that they experience extreme hunger, obsession with food and gaining weight between the first and sixth years of life, which can lead to life-threatening obesity.

What-is-Prader-Willi-syndrome_7_2

Symptoms can also affect many organs and systems. The disease is due to a deletion of a sspecific part of chromosome 15. &nbsp;

The most common genetic syndromes in newborns

https://d20hztklr4qnvi.cloudfront.net/1a26b7cd-6db5-4427-a62b-592922547351_middle.jpg

 The most common genetic syndromes in newborns

Силвия Маринова

Author: Sylvia Marinova, PhD student in the Genomic Stability Laboratory at BAS

Whether our baby will have green or brown eyes depends on what is written in its genetic code. But in addition to such characteristics, genetics also determines the development of diseases and defects that can be very severe and even fatal. On average, between 3% and 5% of all pregnancies [<a href="https://pubmed.ncbi.nlm.nih.gov/27235906/" target="_blank" rel="noopener">ref.1</a>] are known to be complicated by a genetic or birth defect.

In order to prevent them, there are a number of genetic tests both before and during pregnancy and it is important that all expectant parents are aware of them and discuss them with the advising obstetrician-gynecologist when planning a pregnancy. In this article we will introduce you to the 3 main groups of genetic tests that are applied.

What-are-genetic-diseases

What are genetic diseases

What-are-genetic-diseases_0_0

What-are-genetic-diseases_0_1

Genetic diseases <a href="/p/mutatsii_srieshchu_iestiestvien_podbor_e4a316a0_b5fd_4a51_8dc0_12a14405f8f2" target="_blank" rel="noreferrer"></a>are due to anomalies in a person's genome. They may be different species and may be the result of a change called a mutationin a particular gene.

What-are-genetic-diseases_0_2

Anomalies can also be in larger structures called chromosomes . They carry the genes. Each person normally has 23 pairs of chromosomes insomatic cells, a total of 46 pieces (more <a href="/p/kak_ghienitie_opriedieliat_prilikata_s_roditielitie_ni_2256bb0a_9ee8_4d00_8f3e_7ca44b90aa45" target="_blank" rel="noreferrer"></a> detailed about genes and chromosomes can be read here [ref.2]). Sometimes it is possibleto get this way, for example, with Down syndrome, we know that there is a trisomy of the 21th chromosome.

Find-out-if-you-are-a-carrier-of-genetic-diseases-before-pregnancy

Find out if you are a carrier of genetic diseases before pregnancy

Find-out-if-you-are-a-carrier-of-genetic-diseases-before-pregnancy_1_0

Find-out-if-you-are-a-carrier-of-genetic-diseases-before-pregnancy_1_1

As a first step towards creating a new life, we could do a study to see if we or our partner are carriers of a genetic defect that may be risky for our future baby.

Find-out-if-you-are-a-carrier-of-genetic-diseases-before-pregnancy_1_2

The choice of whether to take such a test is entirely free. Often our obstetrician-gynecologist can recommend such studies or refer us to a specialist in medical genetics if he <a href="https://www.puls.bg/bremennost-i-razhdane-c-36/prof-liudmila-angelova-skriningova-programa-za-otsenka-na-risk-se-predlaga-na-vsichki-bremenni-v-stranite-s-naprednalo-zdraveopazvane-n-35599" target="_blank" rel="noopener">deems</a> itnecessary.

Find-out-if-you-are-a-carrier-of-genetic-diseases-before-pregnancy_1_3

The study in itself is taking material from the oral cavity .

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<ul>
<li>Cystic fibrosis - with a defect in the CFTR gene. The disease affects the respiratory and digestive systems most seriously</li>
<li>Spinal muscular atrophy - with a defect in the SMN gene. More about the disease can be read <a href="/p/k_33f32171_b851_437e_b9c4_4b1ab40d1eb6" target="_blank" rel="noreferrer">here</a> [ref.4]</li>
<li>Thalassaemia - Defect <a href="/p/vidovie_talasiemiia_simptomi_i_liechieniie_afa4d9df_f99e_4122_bba7_329dd33442e4" target="_blank" rel="noreferrer"> in HBA or HBB </a> [ref.5] genes.</li>
<li>Brittle X chromosome syndrome - a defect in the FMR1 gene. The disease leads to increased mental retardation and specific facial deformities and much more.</li>
</ul>

Find-out-if-you-are-a-carrier-of-genetic-diseases-before-pregnancy_1_5

As these are hereditary diseases, there is a high incidence of disease in the family history. In the presence of any of the following factors, it is good to do a genetic screening for carrier. Here is the time to mention that this test can also be done during pregnancy, along with other studies.

Find-out-if-you-are-a-carrier-of-genetic-diseases-before-pregnancy_1_6

In addition to genetic testing, there are other ones that assess the mother's health, but they are not subject to this article.

Screening-tests-during-pregnancy

Screening tests during pregnancy

Screening-tests-during-pregnancy_2_0

Screening-tests-during-pregnancy_2_1

Most prenatal tests belong to the screening test group. They aim to identify women with pregnancies at risk of chromosomal aberrations or birth defects. These studies do not diagnose, but only identify the higher risk of a genetic defect for our baby.

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<ul>
<li style="font-weight: 400;">Screening in the first trimester - it consists of a combination of a study of serum indicators of the mother and an echographic examination. The two studies complement each other and are not interchangeable. In ultrasound, for example, the amount of fluidthat accumulates in the occipital region of the foetus is observed. If foetal abnormalities are present, it will be increased and this is an early sign by which aneuploydia can be assumed, especially Down syndrome.</li>
<li style="font-weight: 400;">Late screening - we are talking about classic biochemical screening in the second trimester, but it has a reduced sensitivity to that in the first trimester.</li>
<li style="font-weight: 400;">Non-invasive prenatal test - has been studied since <a href="https://www.bioseek.eu/en/eng/research/pubmed/Fetal_cell_free_DNA_fraction_in_maternal_plasma_is_affected_by_fetal_trisomy_26984559" target="_blank" rel="noopener"></a> 2011. </li>
</ul>

Diagnostic-tests-during-pregnancy

Diagnostic tests during pregnancy

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Diagnostic-tests-during-pregnancy_3_1

These are procedures that determine with high accuracy whether the fetus has chromosomal malformation. If our screening test is positive, then a diagnostic examination is required. They are two main types:

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<ul>
<li style="font-weight: 400;">Chorionobiopsia - is performed between the 10th and 13th weeks of gestation, <a href="https://www.bioseek.eu/en/eng/research/pubmed/Noninvasive_prenatal_testing_the_future_is_now_24466384" target="_blank" rel="noopener"></a> and this is the main advantage of the method. It is invasive and involves sampling from the placenta, which is subjected to examination.</li>
<li style="font-weight: 400;">Amnioccentesis - the study is carried out between the 16th and 18th weeks of gestation.</li>
</ul>

Diagnostic-tests-during-pregnancy_3_3

Having a child is the greatest happiness that can happen to us. But it is accompanied by many difficulties and requires us to be responsible and plan our actions well. In this sense, it is good to think about the possibility of genetic testing, especially if we have reason to assume that we are carriers of a genetic disease. Prenatal diagnosis is also an important part of pregnancy. The main advantage of taking advantage of it is that it gives us preliminary information about the health of our baby and in case it needs special care it gives us time to prepare well.

Diagnostic-tests-during-pregnancy_3_4

Diagnostic-tests-during-pregnancy_3_5

<a href="/p/ima_li_smisl_da_si_napravish_ghienietichien_tiest_0a6b928b_e726_4246_be6a_2ef32f93ccf0" target="_blank" rel="noreferrer">Does it make sense to take a genetic test?</a>

Diagnostic-tests-during-pregnancy_3_6

<a href="/p/iepighienietikata_ili_kak_nachint_na_zhivot_upravliava_ghienitie_ni_8ec805d0_069f_4823_89cd_c55d051a9610" target="_blank" rel="noreferrer">Epigenetics or how lifestyle governs our genes</a>

Diagnostic-tests-during-pregnancy_3_7

<a href="/p/mutatsii_srieshchu_iestiestvien_podbor_e4a316a0_b5fd_4a51_8dc0_12a14405f8f2" target="_blank" rel="noreferrer">Mutations vs. Natural Selection</a>

Diagnostic-tests-during-pregnancy_3_8

<a href="/p/kak_nuklieinovitie_kisielini_dnk_i_rnk_dirizhirat_zhivota_7b8f007a_0254_40cb_8d72_36410852722e" target="_blank" rel="noreferrer">How nucleic acids DNA and RNA orchestrate life</a>

Diagnostic-tests-during-pregnancy_3_9

<a href="/p/kak_ghienitie_opriedieliat_prilikata_s_roditielitie_ni_2256bb0a_9ee8_4d00_8f3e_7ca44b90aa45" target="_blank" rel="noreferrer">How genes determine resemblance to our parents</a>

Diagnostic-tests-during-pregnancy_3_10

<ol>
<li style="font-weight: 400;">
<a href="/p/kak_ghienitie_opriedieliat_prilikata_s_roditielitie_ni_2256bb0a_9ee8_4d00_8f3e_7ca44b90aa45" target="_blank" rel="noreferrer">How genes determine resemblance to our parents</a>
</li>
<li style="font-weight: 400;">
Prof. Lyudmila Angelova: A risk assessment screening program is offered to all pregnant women in countries with advanced healthcare.
</li>
<li style="font-weight: 400;">
<a href="/p/k_33f32171_b851_437e_b9c4_4b1ab40d1eb6" target="_blank" rel="noreferrer">Spinal muscular atrophy (SMA) - causes, clinic and treatment</a>
</li>
<li style="font-weight: 400;">
<a href="/p/vidovie_talasiemiia_simptomi_i_liechieniie_afa4d9df_f99e_4122_bba7_329dd33442e4" target="_blank" rel="noreferrer">Types of thalassaemia, symptoms and treatment</a>
</li>
<li style="font-weight: 400;">
<a href="https://www.bioseek.eu/en/eng/research/pubmed/Fetal_cell_free_DNA_fraction_in_maternal_plasma_is_affected_by_fetal_trisomy_26984559" target="_blank" rel="noopener">Fetal cell-free DNA fraction in maternal plasma is affected by fetal trisomy</a>. Journal of Human Genetics, 2015
</li>
<li style="font-weight: 400;">
<a href="https://www.bioseek.eu/en/eng/research/pubmed/Noninvasive_prenatal_testing_the_future_is_now_24466384" target="_blank" rel="noopener">Noninvasive prenatal testing: the future is now.</a> Reviews in obstetrics &amp; gynecology, 2012
</li>
</ol>

Diagnostic-tests-during-pregnancy_3_11

&nbsp;

3 Types of Genetic Tests Before and During Pregnancy

https://d20hztklr4qnvi.cloudfront.net/6aee2411-a3c0-4526-8050-88203839d4e0_middle.jpg

 3 Types of Genetic Tests Before and During Pregnancy

Author: Rositsa Tashkova, Master of Molecular Biology and Microbiology

It is no secret to anyone that the first years of our lives, our childhood, are critical to shaping us as individuals, to our health and even our mental abilities. This process begins with our conception, and the most important for the brain are the first 3 years.<a href="../c/nutrition_during_pregnancy" target="_blank" rel="noopener"></a>

The factors that determine a child's mental development are many. It has already been shown that physical activity and food are among the most significant of them. As for physical activity, it has been found that both sporadic and prolonged periods of activity have a beneficial effect on the child's mental development and ability to learn. [<a href="https://www.bioseek.eu/bg/eng/research/pubmed/The_relationship_between_physical_activity_and_diet_and_young_children_s_cognitive_development_A_systematic_review_27419040" target="_blank" rel="noopener">ref. 1</a>]

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But in this article we will focus on foods, which have been found to have great importance for the development of these abilities in children, and also in adults.

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In this article you will read about:

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<ul>
<li>Western style diet</li>
<li>Foods rich in polyunsaturated fatty acids: Omega-3 and Omega-6</li>
<li>Foods rich in zinc</li>
<li>Iron-rich foods</li>
<li>Iodine-rich foods</li>
<li>Foods rich in vitamin B12</li>
<li>Foods rich in vitamin D</li>
</ul>

Western-style-diet-is-no-good

Western style diet is no good

Western-style-diet-is-no-good_0_0

Studies in older children and adults have found that the "Western diet", which is known for its high content of saturated fats and refined sugars, may impair cognitive (mental) abilities and learning ability, possibly through its association with inflammation, oxidative stress, gut <a href="/p/zashcho_chrievniiat_mikrobiom_ie_tolkova_vazhien_za_nas_i_nashieto_biebie_f1c8c877_5195_4564_831e_1e2eef76df59" target="_blank" rel="noreferrer"></a> microbiome and hippocampus [<a href="https://www.bioseek.eu/bg/eng/research/pubmed/Western_diet_is_associated_with_a_smaller_hippocampus_a_longitudinal_investigation_26349802" target="_blank" rel="noopener">ref. 2</a>].

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However, the relationship between diet and cognitive development in young children largely focuses on nutrient deficiencies, such as vitamin B. And this deficiency interferes with key cognitive processes.

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However, the role of specific nutrients is important and it is believed that early exposure to unhealthy dietary patterns (low in nutrients and high in sugars and saturated fats) negatively affects children's mental development.

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It is possible that a healthier diet - a menu rich in fruits and vegetables, <a href="https://www.healthline.com/nutrition/lean-protein-foods#section14" target="_blank" rel="noopener">"lean proteins"</a> [ref. 3] and whole grains, promote cognitive ability through changes in cellular processes, neuroplasticity or <a href="/p/iepighienietikata_ili_kak_nachint_na_zhivot_upravliava_ghienitie_ni_8ec805d0_069f_4823_89cd_c55d051a9610" target="_blank" rel="noreferrer">epigenetic mechanisms</a> [ref. 4].

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It seems that an unhealthy diet limits the optimal development of the brain. And the typical diet of children worldwide is suboptimal, with calories usually coming from solid fats and added sugars, including high-fat milk, fatty meats and cheeses, cereals, fruit and carbonated beverages, and candy.

Polyunsaturated-fatty-acids:-Omega-3-and-Omega-6

Polyunsaturated fatty acids: Omega-3 and Omega-6

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What are essential fatty acids? This term refers to those polyunsaturated fatty acids that must be provided by food, since they cannot be synthesized in the body, but are still necessary for health.

Polyunsaturated-fatty-acids:-Omega-3-and-Omega-6_1_1

As we know, the brain is a rich in lipids (fat) organ. Essential fatty acids are its vital structural components, without which brain cells cannot function optimally. Thus, the provision of fatty acids is of paramount importance for the functioning of the nervous tissue.

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Omega-3 and Omega-6 (n-3 docosahexaic acid or DHA and n-6 fatty acids) are the main polyunsaturated fatty acids that play a central role in brain development.

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The accumulation of DHA in the brain occurs during intrautere development and up to 3 years of age, and then accumulated high levels persist throughout life [<a href="https://www.bioseek.eu/bg/eng/research/pubmed/DHA_Effects_in_Brain_Development_and_Function_26742060" target="_blank" rel="noopener">ref. 5</a>].

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Enrichment of the diet with fatty acids has a positive impact on the learning abilities, memory, language progress and cognitive abilities of the child as a whole. The accumulation of Omega-3 fatty acids in cell membranes contributes to enhanced processing of information and thus to better problem solving ability, increased attention of children and improved mental abilities.

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Insufficient intake of Omega-3 fatty acids leads to brain damage. In addition, inadequate or unbalanced intake of fatty acids can lead to disorders of nervous development, such as attention deficit hyperactivity disorder&nbsp;(ADHD), dyslexia and autism spectrum disorders.

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Foods rich in Omega-3 fatty acids (EPA, DHA, ALA per 100 g product):

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<ul>
<li style="font-weight: 400;">Salmon: 4.0 grams EPA and DHA</li>
<li style="font-weight: 400;">Mackerel: 3.0 grams EPA and DHA</li>
<li style="font-weight: 400;">Sardines: 2.2 grams EPA and DHA</li>
<li style="font-weight: 400;">Anchovies: 1.0 grams EPA and DHA</li>
<li style="font-weight: 400;">Chia seeds: 4.9 grams ALA</li>
<li style="font-weight: 400;">Walnuts: 2.5 grams ALA</li>
<li style="font-weight: 400;">Linseed: 2.3 grams ALA</li>
</ul>

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Concerns about mercury should not stop us from eating fish - or taking fish oil supplements. Normally, mercury is not a problem unless you are pregnant or breast-feeding. In these cases, you may choose fish low in mercury and high in Omega-3, such as: salmon, sardines, trout and canned tuna.

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Foods rich in Omega-6 fatty acids (per 100 g product):

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<ul>
<li style="font-weight: 400;">Soybean oil: 50 grams</li>
<li style="font-weight: 400;">Corn oil: 49 grams</li>
<li style="font-weight: 400;">Mayonnaise: 39 grams</li>
<li style="font-weight: 400;">Walnuts: 37 grams</li>
<li style="font-weight: 400;">Sunflower seeds: 34 grams</li>
<li style="font-weight: 400;">Almonds: 12 grams</li>
<li style="font-weight: 400;">Cashews: 8 grams</li>
</ul>

Which-foods-are-rich-in-zinc

Which foods are rich in zinc

Which-foods-are-rich-in-zinc_2_0

Zinc deficiency appears to be a major problem globally and affects 40% of the world's population. Zinc is a vital nutrient for the brain, with important structural and functional roles.

intellectual disability

3 Types of Genetic Tests Before and During Pregnancy

Which foods boost children's brain development since conception