A genetic disorder known as down syndrome affects a large number of children worldwide. Developmental differences arise when a child is born with an additional chromosome. With the correct assistance, children with Down syndrome can lead happy, fulfilling lives in spite of these obstacles.
Parents frequently enquire about the causes of Down syndrome and early warning indicators. A child is more likely to be born with this condition even though there isn’t a single cause. Families can better prepare and seek appropriate medical advice by being aware of the causes.
The degree of education that kids with Down syndrome can obtain is another frequent source of worry. Many children with Down syndrome attend school, pick up important skills, and do well in a variety of educational environments, despite the fact that they might learn at a different rate. These kids can advance significantly with time, support, and specially designed teaching methods.
Causes | Signs |
Genetic condition where a child has an extra chromosome 21. | Slower development, distinct facial features, lower muscle tone. |
Increased risk if mother is over 35 at the time of pregnancy. | Delayed speech and learning difficulties. |
Random occurrence, not linked to anything parents did. | Shorter height, smaller hands and feet. |
Some cases may be inherited from parents. | Poor muscle tone and loose joints. |
- Diagnostics
- Reasons for the appearance of chromosome 47
- Characteristics of the patient
- General features of development
- Specifics of physical development
- Formation of the psyche
- Preschool stage
- School years
- Video on the topic
- Down syndrome – Vera Izhevskaya
- Who can have a child with Down syndrome?
- Akhmedova Nurana – Down syndrome and its characteristic features
- Down syndrome – causes, symptoms, diagnosis – briefly
Diagnostics
The presence of Down syndrome should be detected early in pregnancy, according to medical professionals, so that the mother can prepare herself and her unborn child for the possibility that they won’t survive at all. Many non-invasive methods, such as a special ultrasound (screening) or the extraction of the child’s DNA from the mother’s blood, can be used in place of invasive methods to count the number of chromosomes in the child’s DNA even in the earliest stages of gestation. These methods involve taking an analysis of fluid from the umbilical cord or performing a biopsy.
Pregnant women under 30 years of age are advised to avoid using invasive methods, which have a high accuracy rate and are required for women who are predisposed to this disease.
Although there is doubt about the precision of non-invasive diagnostic techniques, women over 35 are not able to utilize alternative methods due to the potential for uterine intervention to be fatal during pregnancy.
Reasons for the appearance of chromosome 47
Although this disease is caused by a gene mutation, even complex phenomena like this need independent causes. Only certain groups of people have been found to have special children more frequently; the exact causes of special child births have not been determined. Therefore, because the details of gene mutations have not yet been thoroughly investigated, even the presence of all the reasons listed above does not guarantee that a child will grow up with disorders; rather, it merely increases the chance.
- Late age of conception of a child. First of all, it becomes increasingly difficult for a mother to give birth to normal offspring with age – it is believed that after 35 years, a gene mutation in a woman in labor becomes much more likely. However, men should not relax either, the “threshold” for them is just a little higher – it is 45 years. In general, experts point to such factors that supposedly increase the likelihood of the birth of such a child.
- Heredity. This point is even more confusing, since even ideal heredity does not guarantee anything – a child with Down syndrome can be born in a family where the parents are young and completely healthy, and none of the relatives have ever suffered from this syndrome. Moreover, a completely opposite situation is also possible, when two children with Down syndrome can have healthy children – there is no direct transmission of mutation; however, it should be taken into account that a sick boy is usually infertile from childhood, although not always.
Doctors maintain, however, that the fact that similar illnesses have previously been reported in the same family may point to a shared propensity for gene mutation. This is merely a reason to see doctors before getting pregnant, not a reason to refuse children.
- Incest. Human reproduction, which requires the mandatory participation of two people, is organized in this way so that the child receives different genes and is adapted to a greater number of factors in the outside world. During sexual contacts between close relatives, the sets of genes received from both parents are very similar, so the mutation mechanism is activated, trying to “invent” adaptation to a greater number of external stimuli. The result in most cases is serious disorders – in particular, Down syndrome.
- Increased solar activity. It is believed that the development of the disease can also be influenced by a cosmic cause, which can be resisted in only one way – by carefully checking the forecasts of solar activity when planning conception. This theory requires large-scale comprehensive confirmation, and is still recognized as scientific. It is one of the reasons why children with Down syndrome are called "sunny" children.
Characteristics of the patient
Because their genes are similar, children with Down syndrome share a lot in common, but they still differ in appearance because each one also has their parents’ features. However, there are certain characteristics that small patients have that adults might not have at all, such as:
- A very flat face and a very flattened nose.
- A slightly slanted cut of the eyes and a small fold of skin near the inner corner of the eye. In combination with the previous feature, the appearance is vaguely reminiscent of a Mongoloid.
- The skull seems shortened, the back of the head is slanted and flat. Various anomalies are often noted in the structure of the outer ear.
- The mouth is usually quite small compared to the tongue, so such children often stick out their tongue, or, which is generally characteristic, almost always keep their mouth slightly open.
- Muscles are characterized by weakened tone, and joints fix the position less reliably.
- There may be a transverse fold on the inside of the palm, an anomaly of the little finger in the form of an unnatural curvature is often observed.
The internal pathologies that frequently accompany Down syndrome are another issue if the unusual appearance has little bearing on a normal life. The number of years that "sunny" children live is never mentioned because the degree to which these concurrent pathologies develop determines how long they live.
People with Down syndrome typically have life expectancies that are similar to those of healthy individuals with similar pathologies, specifically:
- Congenital heart disease (characteristic for 2/5 people with Down syndrome).
- Disorders of internal secretion.
- Skeletal pathologies – both serious (absence of one pair of ribs, deformation of the chest or pelvis), and simply noticeable (short stature).
- Respiratory pathologies caused by the abnormal structure of the nasopharynx and other upper respiratory tract.
- Incorrect functioning of the gastrointestinal tract, impaired fermentation.
- Disorders of the sense organs – reduced hearing, vision pathologies (glaucoma, strabismus, cataracts).
Still, not every characteristic of kids with Down syndrome is unfavorable. For instance, their gorgeous, particularly shining eyes and the incredible sincerity of their smile have earned them the nickname "sunny" children.
It should be highlighted that such an appearance cannot be deemed deceptive because these kids stand out for their kindness and could serve as admirable role models for a lot of healthy individuals.
General features of development
Given that Down syndrome is a genetic disorder, current science is still a long way from discovering a cure. However, strategies that effectively combat different disease manifestations have been developed, allowing a sick child’s condition to resemble that of a healthy one.
For the associated disorders mentioned above, it is crucial to perform a complete diagnosis in infancy because the diagnosis can be made during pregnancy. A well-planned medication regimen and ongoing specialist monitoring will help to minimize the noticeable differences from a healthy baby.
The child’s delayed physical and mental development is a significant point. A child with Down syndrome will only be able to hold his head up at the age of three months, and by the time he is a year old, his greatest accomplishment will be sitting up by himself. He won’t be able to walk on his own until he is two years old. As a result, the child will already be months behind normal children in terms of development.
These terms, however, refer to children who were raised in a manner consistent with normal childhood despite having the syndrome. Specialized programs can greatly expedite the process if the diagnosis was made in a timely manner.
You just need to work a little harder to help a child with Down syndrome reach a reasonable level of development. It doesn’t seem impossible. Naturally, it is beneficial to begin with activities that focus on improving fine motor skills because this develops both the brain and the muscles. A child who is ill can also benefit greatly from massage in terms of improving their physical fitness.
It takes a little longer for the child to learn everything, so parents will need to work harder to teach the child to speak.
Experts advise paying closer attention to songs and poems in order to set the tone for clear, accurate speech.
Overcoming the psychological barrier a child may experience upon realizing he is unique from other kids is crucial. It will be simpler to establish regular communication in the kindergarten if any speech disorders are identified and treated right away. Basic self-care abilities will help the child become less dependent on outside assistance, which will boost their confidence.
Specifics of physical development
Little children with Down syndrome typically weigh little and have poor physical development, so they have very little chance of becoming professional athletes. However, since physical education is the only way to strengthen a weaker body, it is almost more crucial for them than for healthy kids.
Because common symptoms of the syndrome include very weak skin pigmentation, a profusion of rashes, excessive dryness and roughness of the skin, and a propensity to crack in the cold, health issues typically have a prominent external manifestation.
Perhaps the most common sites of developmental pathologies are the heart and circulatory system in general. Nearly half of people with Down syndrome have heart defects; heart rhythm abnormalities are audible, and valve malfunctions are a common occurrence.
Generally speaking, the lungs form correctly; variations are very uncommon and only occur superficially. In the meantime, elevated blood pressure in the lungs is noted as a result of diseases affecting the nearby heart. Additionally, researchers think that the illness increases one’s susceptibility to pneumonia.
Weak muscle tone is most prominent on the abdomen, where it protrudes visibly in comparison to the chest. This may be a normal variation for middle-aged and older individuals, but it appears abnormal in babies. Frequently, the characteristic is accompanied by an umbilical hernia; however, it is not a cause for concern as it eventually disappears on its own.
With the exception of the genitalia, which may be somewhat smaller than those of other children of the same age and build—boys are typically infertile—the other internal organs essentially do not change as a result of chromosome 47.
The hands and feet appear broader and shorter, with a slightly atypical shape. When you fold your hands at the seams, you can see the pathology of the little finger on the hands, which is clearly visible. On the feet, however, the big toe is even more isolated than in children who are healthy. Particularly distinct lines can be seen on the palms, and there is a skin fold on the feet that is unusual for most people.
You must become accustomed to orthopaedic insoles from an early age because flat feet are more likely due to the tendons’ passivity.
Movement incoordination is common; although it may not seem like it, they actually have poor body control. The risk of injury rises because the musculoskeletal system is weakened.
Children with this disease frequently experience the disorders listed, though they may not always be very noticeable. A single point might not show up at all or be very subtle, not affecting daily living.
Formation of the psyche
Experts point out that Down syndrome and mental retardation are entirely distinct conditions, despite the tendency of many laypeople to make these comparisons. These individuals have trouble focusing and gaining a broad perspective, but they can put a lot of effort into solving a single, small-scale, extremely complicated problem.
Despite the fact that their educational attainment is typically questioned due to their seeming inattention and disinterest, there have been instances where "sunny" kids have gone on to become well-known mathematicians as adults.
Such afflictions cause babies to appear oblivious to their surroundings. Three months after birth, a healthy baby starts to identify his mother and is content with her; he is afraid of other people. In contrast, a child with Down syndrome appears to not care who calls him, touches him, or even picks him up. Later on, the child loses interest in communicating; he hears the address but finds it difficult to focus on the response, so he typically does not say anything.
Simultaneously, intellectual development ends around the age of seven unless, naturally, the young patient’s development is encouraged. He typically speaks by now, though he is still learning words. The patient has trouble remembering things and is not very attentive.
Even though there aren’t any obvious causes for this, prolonged crying fits are common.
Even though children with Down syndrome typically struggle with concentration and attention, there are some things that genuinely fascinate them. These include, in particular, balls that bounce freely; however, in contrast to a healthy child, a sick child exhibits no excitement or desire to play independently. Children with this diagnosis typically focus their attention on things that don’t need their response.
Psychodiagnostics reveals that the absence of personality development is the main issue with the illness. The child’s behavior may be seen as extremely strange if he feels at ease, but it won’t affect regular conversation or other types of human interaction.
Preschool stage
While sending an unusual child to kindergarten may terrify many parents, it is a necessary step because it is here that children will learn the social skills they will need to interact with others. In most regular preschools, socialization is permitted, but only under the condition that teachers are aware of the baby’s unique qualities and are able to instruct him in accordance with the programs that are best for him.
Active games are especially important for strengthening the musculoskeletal system because they promote higher nervous activity and communication. Teachers also need to consider that the baby is more clumsy and prone to injury than healthy children. As an alternative, physical therapy may be beneficial.
Use musical games and lessons to enhance auditory sensitivity; this will also help to develop personality and motor activity. A licensed speech therapist must be present in a preschool setting due to the prevalence of speech disorders.
A comprehensive education in personality cannot be achieved without a well-constructed psychology. In fact, everything here encourages children with Down syndrome to engage with others; even toys are designed primarily for joint play rather than solo play.
However, it is unacceptable for specialists to behave in a conditionally correct but overly stereotyped manner; only by treating each child as an individual can a child’s personality be revealed.
Knowing the causes of Down syndrome, which are due to a genetic defect, and the key indicators that can help with an early diagnosis are essential to understanding the condition. Examining the educational options accessible to kids with Down syndrome is also crucial because they can differ greatly. By taking care of these issues, we can ensure that they receive the specialized educational resources they require to succeed and better support their growth and learning journey.
School years
A child with Down syndrome may attend a regular school; however, graduation from one of these institutions is typically required to meet the educational qualification level for such children. It has been observed that early kindergarten instruction significantly aids in a child of this type in adjusting to new circumstances, but in this case, it is also crucial for teachers and classmates to demonstrate the greatest amount of understanding.
In addition, the child will probably perform noticeably worse in school than the majority of his peers. He has trouble staying still, struggles to focus and react fast, and has trouble remembering details.
Those putting together a training curriculum for a child like this will face several challenges:
- Motor skills are underdeveloped, so complex, especially small and precise movements will have to be completely excluded or at least made so that they do not affect grades.
- A person with Down syndrome often has certain problems with vision and hearing, so some visual and auditory information may be inaccessible to him even with all the desire. Nevertheless, the enormous role of visual teaching methods is noted – without being able to imagine well and “catch on "summer", "sunny" child perceives well what he saw in action.
- Problems with speech have a deep psychological subtext, that is, the child cannot formulate his thoughts not only out loud, but even in his head. He thinks, but, in a sense, he does not have a good command of his native language, so he cannot be judged by his ability to express thoughts both orally and in writing. Because of this, it is quite difficult to objectively assess the level of his knowledge.
- Children with Down syndrome have a very underdeveloped thought process – it is quite difficult for them to draw their own conclusions. Such a child literally needs to be shown everything on his fingers, because on his own he can only count or rewrite.
- Creating his own logical chains, even simple ones, or abstract thinking is too difficult a task for such kids. In addition, the solution to the problem for them is strictly tied to specific conditions, but they can no longer draw parallels and rebuild, having solved a similar, but still not the same problem.
- Memory is very limited, a "sunny" child needs much more time to thoroughly memorize information.
- A special student is very distracted by any extraneous phenomena, and also gets tired very quickly, so ideally it is necessary to structure the educational process in such a way that no task is too long and exhausting.
- Perception of information is fragmentary, individual facts or characteristics of a phenomenon are considered unrelated to each other, which interferes with the discernment of patterns.
- Even compliance and goodwill can interfere with the normal education of children with Down syndrome! Although they are very obedient and readily complete assigned tasks, and are also distinguished by non-conflict behavior, such children are not at all inclined to get upset because of their own omissions. This has a positive effect on their mood, but completely kills any incentive, since without getting upset and not being afraid of anything, the child simply does not see the point in trying and doing better.
But the right strategy really does work wonders. Experts emphasize that the teacher shouldn’t be aggravated by the child’s behavioral traits because it isn’t their fault.
But, encouragement never goes out of style, and a positive outlook helps a child keep going after their mistakes instead of giving up and move toward their ultimate objective, even if they do so slowly.
It is essential to comprehend Down syndrome in order to create a supportive environment for children with the condition and their families. Despite the complexity of the genetic components underlying this illness, it is crucial to treat every child with respect and understanding. Early detection of Down syndrome symptoms can greatly impact the provision of suitable interventions and support.
Every child with Down syndrome has different needs and potential when it comes to education. Many children with Down syndrome are able to meet their learning objectives and succeed academically when they receive specialized educational strategies and assistance. In order to ensure that each child’s educational plan is tailored to their unique strengths and challenges, it is critical that parents and educators collaborate.
We can help children with Down syndrome realize their full potential by adopting a positive mindset and emphasizing each child’s abilities rather than limitations. With the correct tools and assistance, they can live happy, prosperous lives and give back to the community with their special talents.