Newborn down syndrome features

Down Syndrome (for Parents) - Nemours KidsHealth

What Is Down Syndrome?

Down syndrome is a condition in which a baby is born with an extra

chromosomenumber 21. The extra chromosome is associated with delays in the child’s mental and physical development, as well as an increased risk for health problems.

The physical features and medical problems linked to Down syndrome can vary widely from child to child. While some kids need a lot of medical attention, others lead healthy lives.

Down syndrome, also called trisomy 21, happens by chance, can’t be prevented, and isn’t caused by anything a parent did or didn't do. Fortunately, the health problems can be managed well, especially when found early, and many resources are available to help kids and their families.

What Causes Down Syndrome?

A baby inherits genetic information from its parents in 46 chromosomes, typically 23 from the mother and 23 from the father. Chromosomes hold our genes, which carry the information that determine how our bodies look and work, including traits from our relatives like hair and eye color.

In most cases of Down syndrome, a child gets an extra chromosome 21 — for a total of 47 chromosomes instead of 46. Rarely, the extra chromosome 21 attaches to another chromosome. This extra genetic material causes the physical features and developmental delays in people with Down syndrome. The features are no different if the extra chromosome is by itself or attached to another one.

How Can Down Syndrome Affect Kids?

Kids with Down syndrome often have similar physical features, such as a flat facial profile, an upward slant to the eyes, small ears, and a tongue that tends to stick out.

Low muscle tone (called hypotonia) is also common in kids with Down syndrome but is less obvious as they get older. Children will reach developmental milestones, like sitting up, crawling, and walking, though typically later than other kids do. Low muscle tone may also contribute to sucking and feeding problems during early childhood, as well as gastroesophageal reflux and constipation.

At birth, babies with Down syndrome are often smaller than other newborns, and they tend to grow at a slower rate and remain shorter than their peers. Toddlers and older kids may have delays in speech and self-care skills like feeding, dressing, and using the toilet.

Down syndrome affects kids' ability to learn in different ways, and most have mild to moderate intellectual disability. Kids can and do learn, and they can develop skills throughout their lives. They just reach goals at a different pace. So it is important to remember that each child with Down syndrome will gain skills in their own time and to not compare them to their typical peers or even kids with the same condition.

Kids with Down syndrome have a wide range of abilities, and there's no way to tell at birth what they can do as they grow up.

What Medical Problems Can Happen With Down Syndrome?

Some kids with Down syndrome have no serious health problems. But others may have medical issues that need extra care. Many go to clinics that specialize in caring for people with Down syndrome. If you don’t have a Down syndrome clinic in your area, your primary care doctor can help coordinate care for your child.

Almost half of all children born with Down syndrome will have a congenital heart defect. All newborns with Down syndrome should be checked for this with a specialized ultrasound for the heart (echocardiogram).

About half of all kids also have problems with hearing and vision. Hearing loss can be related to fluid buildup in the inner ear or to structural problems of the ear itself. Vision problems commonly include strabismus (eyes do not track together), nearsightedness or farsightedness, and cataracts.

Vison and hearing problems can affect language and learning. Regular checkups by an otolaryngologist (ear, nose, and throat doctor), audiologist, and an ophthalmologist can find and manage any problems.

Children may need to see other medical specialists, depending on their needs. Medical problems that happen more often with Down syndrome include:

thyroid problems (usually hypothyroidism)
stomach and intestinal problems, including celiac disease, reflux, and constipation
seizures
breathing problems, including sleep apnea and asthma
obesity
infections, including ear infections and pneumonia
childhood leukemia

People with Down syndrome sometimes have an unstable upper spine (neck) and should be checked by a doctor every year or sooner if they have symptoms, such as neck pain, changes to their walking, or unexpected loss of bladder or bowel control. Some children may need neck X-rays before playing some sports or before getting anesthesia.

How Is Down Syndrome Diagnosed?

Two types of prenatal tests can look for Down syndrome in a fetus:

Screening tests estimate the chances that a fetus has Down syndrome.
Diagnostic tests can tell if the fetus does have the condition.

Screening tests are cost-effective and easy to do. But they don't give a definitive answer about whether a baby has Down syndrome. So these tests are used to help parents decide whether to have more diagnostic tests.

Diagnostic tests accurately diagnose Down syndrome and other chromosomal problems. But because this involves getting some of the baby’s cells while still inside the uterus, there is a risk of miscarriage and other complications.

If you're unsure about which test, if any, is right for you, your doctor or a genetic counselor can help you sort through the pros and cons of each.

Screening tests include:

nuchal translucency testing: This test is done between weeks 11–14 of pregnancy. It uses ultrasound to measure the clear space in the folds of tissue behind a developing baby's neck. Babies with Down syndrome and other chromosomal problems tend to have fluid buildup there, making the space look larger. To calculate the odds that the baby has Down syndrome, doctors use this measurement, along with the mother's age (the risk for a baby to have Down syndrome increases with the mother’s age), and the baby's gestational age.
the triple screen or quadruple screen (also called the multiple marker screen)
integrated screen: This uses results from first-trimester screening tests (with or without nuchal translucency) and blood tests with a second trimester quadruple screen to come up with the most accurate screening results.
an ultrasound
cell-free fetal DNA analysis: This test analyzes fetal DNA found in the mother’s blood. It can be done in the first trimester and is more sensitive at finding trisomy 21 than standard the screening tests noted above.

Diagnostic tests include:

chorionic villus sampling (CVS)
amniocentesis
percutaneous umbilical blood sampling (PUBS) or cordocentesis

If the doctor suspects Down syndrome after a baby is born, a karyotype test (chromosome analysis) can confirm the diagnosis. This is typically done on a blood sample and the chromosomes are grouped by size, number, and appearance to look for differences.

How Can Parents Help?

If your child has Down syndrome, you may at first have feelings of loss, guilt, and fear of the unknown. Talking with other parents of kids with Down syndrome may help you deal with your concerns and find ways to look toward the future. Many parents find that learning as much as they can about the condition helps ease fears.

Children with Down syndrome benefit from getting early intervention services as soon as possible. Physical therapy, occupational therapy, and speech/feeding therapy can help, and early childhood educators can work with your child to encourage and boost development.

States provide early intervention services to kids with disabilities from birth to age 3. Check with a health care provider — a doctor, nurse, developmental pediatrician, or a social worker — to find resources in your area.

When kids with Down syndrome turn 3 years old, they’re guaranteed educational services under the Individuals with Disabilities Education Act (IDEA). Under IDEA, local school districts must provide "a free appropriate education in the least restrictive environment" and an individualized education program (IEP) for each child.

Where to send your child to school can be a hard decision. The needs of some kids with Down syndrome are best met in a specialized program. But many kids with Down syndrome go to a typical school and enjoy the same activities as other kids their age. Being in a regular classroom (known as inclusion), when appropriate, is good for both the child with Down syndrome and the other kids.

A few kids with Down syndrome go on to college. Many transition to semi-independent living. Others continue to live at home but hold jobs and find their own success in the community.

Your school district's child study team can work with you to find what's best for your child. All decisions about your child’s education should involve your input, as you are your child's best advocate.

You also can find more information and support online at:

National Down Syndrome Society
The Global Down Syndrome Foundation

Reviewed by: Nina Powell-Hamilton, MD

Date reviewed: February 2022

Facts about Down Syndrome | CDC

What is Down Syndrome?

Down syndrome is a condition in which a person has an extra chromosome. Chromosomes are small “packages” of genes in the body. They determine how a baby’s body forms and functions as it grows during pregnancy and after birth. Typically, a baby is born with 46 chromosomes. Babies with Down syndrome have an extra copy of one of these chromosomes, chromosome 21. A medical term for having an extra copy of a chromosome is ‘trisomy.’ Down syndrome is also referred to as Trisomy 21. This extra copy changes how the baby’s body and brain develop, which can cause both mental and physical challenges for the baby.

Even though people with Down syndrome might act and look similar, each person has different abilities. People with Down syndrome usually have an IQ (a measure of intelligence) in the mildly-to-moderately low range and are slower to speak than other children.

Some common physical features of Down syndrome include:

A flattened face, especially the bridge of the nose
Almond-shaped eyes that slant up
A short neck
Small ears
A tongue that tends to stick out of the mouth
Tiny white spots on the iris (colored part) of the eye
Small hands and feet
A single line across the palm of the hand (palmar crease)
Small pinky fingers that sometimes curve toward the thumb
Poor muscle tone or loose joints
Shorter in height as children and adults

How Many Babies are Born with Down Syndrome?

Down syndrome remains the most common chromosomal condition diagnosed in the United States. Each year, about 6,000 babies born in the United States have Down syndrome. This means that Down syndrome occurs in about 1 in every 700 babies.¹

Types of Down Syndrome

There are three types of Down syndrome. People often can’t tell the difference between each type without looking at the chromosomes because the physical features and behaviors are similar.

Trisomy 21: About 95% of people with Down syndrome have Trisomy 21.² With this type of Down syndrome, each cell in the body has 3 separate copies of chromosome 21 instead of the usual 2 copies.
Translocation Down syndrome: This type accounts for a small percentage of people with Down syndrome (about 3%).² This occurs when an extra part or a whole extra chromosome 21 is present, but it is attached or “trans-located” to a different chromosome rather than being a separate chromosome 21.
Mosaic Down syndrome: This type affects about 2% of the people with Down syndrome. ² Mosaic means mixture or combination. For children with mosaic Down syndrome, some of their cells have 3 copies of chromosome 21, but other cells have the typical two copies of chromosome 21. Children with mosaic Down syndrome may have the same features as other children with Down syndrome. However, they may have fewer features of the condition due to the presence of some (or many) cells with a typical number of chromosomes.

Causes and Risk Factors

The extra chromosome 21 leads to the physical features and developmental challenges that can occur among people with Down syndrome. Researchers know that Down syndrome is caused by an extra chromosome, but no one knows for sure why Down syndrome occurs or how many different factors play a role.
One factor that increases the risk for having a baby with Down syndrome is the mother’s age. Women who are 35 years or older when they become pregnant are more likely to have a pregnancy affected by Down syndrome than women who become pregnant at a younger age. ^3-5However, the majority of babies with Down syndrome are born to mothers less than 35 years old, because there are many more births among younger women.^6,7

Diagnosis

There are two basic types of tests available to detect Down syndrome during pregnancy: screening tests and diagnostic tests. A screening test can tell a woman and her healthcare provider whether her pregnancy has a lower or higher chance of having Down syndrome. Screening tests do not provide an absolute diagnosis, but they are safer for the mother and the developing baby. Diagnostic tests can typically detect whether or not a baby will have Down syndrome, but they can be more risky for the mother and developing baby. Neither screening nor diagnostic tests can predict the full impact of Down syndrome on a baby; no one can predict this.

Screening Tests

Screening tests often include a combination of a blood test, which measures the amount of various substances in the mother’s blood (e. g., MS-AFP, Triple Screen, Quad-screen), and an ultrasound, which creates a picture of the baby. During an ultrasound, one of the things the technician looks at is the fluid behind the baby’s neck. Extra fluid in this region could indicate a genetic problem. These screening tests can help determine the baby’s risk of Down syndrome. Rarely, screening tests can give an abnormal result even when there is nothing wrong with the baby. Sometimes, the test results are normal and yet they miss a problem that does exist.

Diagnostic Tests

Diagnostic tests are usually performed after a positive screening test in order to confirm a Down syndrome diagnosis. Types of diagnostic tests include:

Chorionic villus sampling (CVS)—examines material from the placenta
Amniocentesis—examines the amniotic fluid (the fluid from the sac surrounding the baby)
Percutaneous umbilical blood sampling (PUBS)—examines blood from the umbilical cord

These tests look for changes in the chromosomes that would indicate a Down syndrome diagnosis.

Treatments

Down syndrome is a lifelong condition. Services early in life will often help babies and children with Down syndrome to improve their physical and intellectual abilities. Most of these services focus on helping children with Down syndrome develop to their full potential. These services include speech, occupational, and physical therapy, and they are typically offered through early intervention programs in each state. Children with Down syndrome may also need extra help or attention in school, although many children are included in regular classes.

Other Resources

The views of these organizations are their own and do not reflect the official position of CDC.

Down Syndrome Research Foundation (DSRF)
DSRF initiates research studies to better understand the learning styles of those with Down syndrome.
Global Down Syndrome Foundation
This foundation is dedicated to significantly improving the lives of people with Down syndrome through research, medical care, education and advocacy.
National Association for Down Syndrome
The National Association for Down Syndrome supports all persons with Down syndrome in achieving their full potential. They seek to help families, educate the public, address social issues and challenges, and facilitate active participation.
National Down Syndrome Society (NDSS)
NDSS seeks to increase awareness and acceptance of those with Down syndrome.

References

Mai CT, Isenburg JL, Canfield MA, Meyer RE, Correa A, Alverson CJ, Lupo PJ, Riehle‐Colarusso T, Cho SJ, Aggarwal D, Kirby RS. National population‐based estimates for major birth defects, 2010–2014. Birth Defects Research. 2019; 111(18): 1420-1435.
Shin M, Siffel C, Correa A. Survival of children with mosaic Down syndrome. Am J Med Genet A. 2010;152A:800-1.
Allen EG, Freeman SB, Druschel C, et al. Maternal age and risk for trisomy 21 assessed by the origin of chromosome nondisjunction: a report from the Atlanta and National Down Syndrome Projects. Hum Genet. 2009 Feb;125(1):41-52.
Ghosh S, Feingold E, Dey SK. Etiology of Down syndrome: Evidence for consistent association among altered meiotic recombination, nondisjunction, and maternal age across populations. Am J Med Genet A. 2009 Jul;149A(7):1415-20.
Sherman SL, Allen EG, Bean LH, Freeman SB. Epidemiology of Down syndrome. Ment Retard Dev Disabil Res Rev. 2007;13(3):221-7.
Adams MM, Erickson JD, Layde PM, Oakley GP. Down’s syndrome. Recent trends in the United States. JAMA. 1981 Aug 14;246(7):758-60.
Olsen CL, Cross PK, Gensburg LJ, Hughes JP. The effects of prenatal diagnosis, population ageing, and changing fertility rates on the live birth prevalence of Down syndrome in New York State, 1983-1992. Prenat Diagn. 1996 Nov;16(11):991-1002.
Bull MJ, the Committee on Genetics. Health supervision for children with Down syndrome. Pediatrics. 2011;128:393-406.

Down's syndrome - sentence or hope? | #01/09

Down syndrome is the most common genetic anomaly caused by trisomy 21 chromosomes. According to statistics, about 1 child in 700 is born with Down syndrome. This ratio is the same in different countries, climatic zones, social strata. It does not depend on the lifestyle of the parents, their health, bad habits, nutrition, wealth, education, skin color or nationality. The probability of having such a child increases with the age of the mother, but since younger mothers give birth more often, all age categories are equally represented among the parents of children with Down syndrome.

This syndrome was described by John Langdon Down in 1866 as mental retardation, combined with a number of characteristic external signs. And in 1959, Jerome Lejeune revealed its genetic nature.

By 1964, three main types of chromosomal abnormalities in Down's syndrome had become known:

Standard trisomy (94%) - tripling of chromosome 21 is present in all cells and occurs as a result of a violation of the meiotic process.
The mosaic form (2%) is caused by disturbances in the process of mitosis in one of the cells at the blastula or gastrula stage, tripling of chromosome 21 is present only in the derivatives of this cell. In these forms, the parents have a normal genotype.
Translocation form (4%) - the arm of one chromosome 21 is attached to another chromosome and, during meiosis, goes into the formed cell along with it. Before the birth of the next child, parents need to undergo a genetic examination.

A presumptive diagnosis, as a rule, is made immediately after the birth of a child according to a number of external signs: a “flat” face (90%), brachycephaly (81%), a skin fold on the neck in newborns (81%), an anti-Mongoloid eye incision (80%), epicanthus (80%), joint hypermobility (80%), muscular hypotonia (80%), short limbs (70%), arched palate (58%), etc. The transverse palmar fold, which is considered a universal sign of Down syndrome, occurs in 45% of cases, and Brushfield spots (pigmented spots on the edge of the iris) in 19% of cases. Usually a newborn with Down syndrome has some of the known signs, sometimes some signs are found in ordinary children. The final diagnosis is made after receiving the results of the karyotype analysis.

Down syndrome is often accompanied by somatic diseases.

Many children are often born with signs of morphofunctional immaturity. Congenital heart defects occur in 40-60% of cases. A common disorder is sleep apnea (up to 50%), which occurs due to the structural features of the nasopharynx, and obstruction of the oropharynx by the root of the tongue. Acquired forms of hypothyroidism can account for up to 35% and require special attention, since the clinical signs of hypothyroidism are masked by the manifestations of Down's syndrome. Pathology of the musculoskeletal system (including muscle hypotension and hyperelasticity of the ligaments) is present in almost all children. Ophthalmic problems occur in 45%, hearing loss in 38–78%, and gastrointestinal anomalies in 12% of cases.

Developing prenatal diagnostics makes it possible to better diagnose Down syndrome and is becoming more accessible to women in Russia. However, this method does not help to decide whether the family is ready to raise a child with Down syndrome, but only transfers it to the period before the birth of the child. More and more families come to our Center, in which the parents knew about Down syndrome before the birth of the child and decided to keep the pregnancy.

For many years, Down's syndrome was considered a medical problem, reflecting its old name "Down's disease", and since this chromosomal anomaly cannot be cured, such patients were usually placed in boarding schools from birth, where they were provided with general care . Comorbidities were also considered part of the syndrome and were often left untreated. Children with Down syndrome in such conditions showed a low level of psychophysical development with an average life expectancy of about 10 years.

The situation began to change about 50 years ago. Against the backdrop of the humanization of society in developed countries, it was recognized that the conditions of detention of people in closed institutions are not satisfactory, their rights are often violated, and prolonged stay in stationary conditions has an adverse effect on their condition. In addition, keeping people with intellectual disabilities in hospitals required unjustified financial costs. At the same time, psychological and pedagogical research has shown the importance of emotional attachment to an adult and a stimulating environment for the development of a child. Parents of patients with developmental disabilities also advocated for the right of their children to live at home and receive all the care they need at their place of residence. These requirements have found wide support among pediatricians. All this led to the beginning of the process of deinstitutionalization, i.e. disbanding the system of boarding schools and the creation of local help services. These changes are reflected in UN documents defining the rights of children with developmental disabilities to family life, education and integration into society.

In Russia, the bulk of children with Down syndrome continued to be in state institutions, and only about 10% of children were brought up at home. Attitudes towards people with Down syndrome began to change from the beginning of the 90s. Parents' associations and public organizations played an important role in this. In 1997, a charitable foundation was established in Moscow, the purpose of which is to improve the quality of life of children with Down syndrome in Russia. In 1998, on the basis of this organization, the Center for Early Assistance was opened, providing free psychological and pedagogical assistance to children from birth to 8 years old. Until that time, it was difficult for families raising their child at home to find professional support, and the level of development of such children was not studied. All examinations of the level of development of children with Down syndrome were carried out in boarding schools, where for many children the factor of deprivation, i.e. the lack of parental love and care, is almost the leading factor in the genesis of their disorders. On the other hand, the development of a system of assistance to children living in a family has made it possible to achieve good results in their rehabilitation and has changed the perception of their possibilities. The data below are borrowed from foreign literature and confirmed by the experience of the Early Intervention Center (Table).

Thus, children with Down syndrome go through the same stages of development as ordinary children, and with special education, although somewhat later, they master the same skills.

Today, more than 1,000 families from Moscow and regions of Russia receive informational support, regularly work with them and provide advisory assistance. Such programs are becoming more and more widespread in our country and neighboring countries.

The modern approach to teaching children with Down syndrome is based on a family-centered model of early assistance, which includes psychological and pedagogical support for parents and is focused on helping parents in raising their children. Much attention is paid to the development of young children (from 0 to 3 years), the prevention of secondary disorders arising from concomitant diseases or uneven development of the child. From the first weeks, the focus of attention of teachers is the interaction of parents with the child, motor development, cognitive processes, and the development of communication. From the age of 1.5, children begin attending group classes aimed at socialization and preparation for kindergarten. By the age of 3, children, as a rule, enter kindergartens, while continuing to receive additional special classes. More and more kindergartens organize integrative groups, where children with Down syndrome are together with their usual peers, and note their positive influence on each other. By the age of 8, children enter schools selected according to their level of development. The bulk of children study in specialized schools, but there are some examples of teaching children with Down syndrome in general education schools.

Undoubtedly, only interdepartmental interaction, including health care, social protection and education authorities, makes it possible to comprehensively solve the problems of a child with developmental disabilities and his family.

Since 2002, active work has been carried out aimed at preventing the social orphanhood of children with Down syndrome, as well as at changing the attitude towards this category of children in the professional medical environment and in the public mind.

The main components of the program are:

Providing doctors of maternity hospitals with up-to-date knowledge about the developmental features of children with Down syndrome living in the family, the possibilities of pedagogical assistance to such children, and the tactics of reporting a diagnosis. Information about the program and printed materials about Down syndrome are given free of charge to obstetric facilities.
Providing crisis psychological assistance and social support to parents who are at the stage of making a decision about the fate of the child.
The inclusion of the family in the early intervention service literally from the first days of a child's life, psychological and pedagogical support in the preschool period and upon admission to school.

The result of the implementation of this program is a steady increase in the number of children with Down syndrome brought up in families. So, in 2002, about 15% of children remained in families in Moscow, the same as the average for Russia, and after 4 years of the program - in 2006 - 50% of children.

Let's talk about this project in more detail.

Many parents remember the words they heard in the maternity hospital for many years. Since Down syndrome is diagnosed immediately after the birth of a child, parents learn the diagnosis before their relationship with the child is formed, and often even before they see it for the first time. The manner in which the diagnosis is communicated greatly influences the further development of the child-parent relationship and the acceptance of the child, even if the child remains in the family.

The message about Down's syndrome destroys the image of the child that parents dreamed about during pregnancy, their plans and ideas about themselves as parents. The significance of this loss determines the intensity and duration of the experience. This process has several phases and, ultimately, is aimed at reorganizing life in accordance with the new situation.

The first phase (shock) can be described by the words: "This cannot be, this is not with me." It can last from several minutes to several days. Then comes the phase of the reaction, which manifests itself in a feeling of anger, conflict, distrust, the search for "guilty". These feelings often fall on those who happened to be nearby, reported the diagnosis. It is important to understand that this behavior is a normal part of this stage of grief and to try to emotionally support the parents. This phase can last from several days to several weeks.

The next step is the adaptive phase. Parents gradually accept the fact of Down syndrome in their child, their anxiety is noticeably reduced, they begin to think about urgent needs. This phase can last up to a year. After that, the phase of orientation or reorganization begins, when the family masters the role of the parents of an unusual child, constructively approaches the solution of its problems, seeks help from the relevant services, makes plans for the future, and establishes new relationships.

Unfortunately, parents usually have to make a decision about the fate of the child while he is in the maternity hospital, that is, during the first few days after his birth. At this time, they are in a shock or reactive phase, and in this state it is almost impossible to make an informed decision. The ability to delay choosing gives them the time they need to adjust. The Early Intervention Center recorded about 30 cases where parents took the child home a few days or months after the refusal.

The doctor in the maternity hospital reporting the diagnosis is also under stress caused by the newborn not meeting his expectations, the need to deliver bad news, the expected reaction, etc. In addition, he turns out to be the only person to whom the parents can turn, and he has to answer the question: “What does this mean?”, presenting pedagogical information about the development and socialization of the child, as well as provide psychological support to the mother, answering the question: “What should I do now?”.

Not having sufficient psychological preparation, doctors often act at the expense of their mental strength, "trying on the situation for themselves." It is often difficult for a doctor to determine the boundaries of his responsibility, and he, sincerely wanting to help parents, advises them to abandon the child, based on his own ideas and his psychological resource. In this case, it turns out that the doctor advises to abandon someone else's child, and parents have to abandon their own.

The mother's reaction, confusion, tears, aggressive behavior also cause a desire to help her, and she is often prescribed drugs that reduce the intensity of the manifestations of grief, but slow down her experience.

Understanding the limits of their capabilities and responsibilities, the ability to invite a psychologist, teacher or a representative of the parent association make it easier for doctors to face their task.

Let us dwell on what is important to do in the maternity hospital:

congratulate parents on the birth of a child, list the usual positive things in such cases: gender, height, weight, etc .;
tell about his problems, the examination plan and the necessary medical measures;
bring the child to the mother, try to keep breastfeeding, as this is extremely important for the health of the child, improving his contact with the mother and the development of speech in the future;
provide parents with general information about Down syndrome, avoiding forecasts, since the development of a newborn child cannot be predicted;
support any decision of the parents on the future fate of the child;
it is not permissible to agitate parents to make this or that decision, since we do not fully understand the circumstances of the life of this particular family and cannot share with them the responsibility for the jointly made decision;
by kindly asking parents about their decision, we bring them back to their feelings, life circumstances and their own motivation and responsibility. This leads to the fact that they make a more natural decision - not to abandon the child and in the future take a more active parental position;
give time to make a decision about the fate of the child, since the condition of the parents after the diagnosis is reported often does not allow them to make an informed choice. Arrange, if necessary, a meeting with other family members or a psychologist;
give information about organizations where the family can receive support in the future. If the child still has medical problems, he should be sent to a medical institution, if developmental problems - to a psychological or pedagogical institution. These can be educational services, parent support groups, social services, etc. The best option is definitely an early intervention service, as the family-centered model of early intervention provides parents with the opportunity to receive psychological support by contacting their child's development.

The beginning of work with the family at the stage of the maternity hospital, the inclusion of the family in the early intervention service, with the subsequent transition of the child to kindergarten, school and adult employment projects, ensures the development, education and socialization of children, and also enables their parents to work and lead a normal life life.

T. P. Medvedeva Downside Up Early Assistance Center, Moscow

Early development of children with Down syndrome (average age of onset of skills, months)

from 0 to 19 months

The presence of an additional, 47th, chromosome affects the development of the internal organs of the child, his abilities for mental and physical development. However, statistics say: 4 out of 5 children with this genomic pathology are trained, and some may well achieve significant success in life. There are a huge number of variations of the syndrome that have a different effect on the potential of the child - sometimes he does not need to draw up special programs at all, and his development is within the limits applicable to age.

And yet, in most cases, children have problems with speech - for example, a delay between understanding and producing a word. Also common is the slow development of fine motor skills, which is inferior to other motor qualities in the pace of their improvement. Such children can stand up later - from 2 to 4 years. Therefore, doctors adhere to an early intervention approach: it is noticed that the earlier physical therapy and special classes are prescribed, the earlier examinations reveal limiting factors (for example, hearing problems), the faster the child develops and the less he lags behind his peers.

Causes of Down syndrome

Excess genetic material correlates with the age of the mother, father, and even maternal grandmother. However, it is impossible to predict whether a child will be born healthy or sick - his parents almost always turn out to be healthy people, and pathology is detected only at the stage of fetal screening. Indirectly affect the development of the syndrome can:

conception in a closely related marriage;
presence among relatives of a person with this mutation;
late delivery with mother over 35 years of age and father over 40 years of age;
the presence of bad habits, unhealthy diet and lifestyle.

The syndrome is not related to the sex of the fetus and is diagnosed using invasive and non-invasive techniques. At birth, the development of the child is almost always normal, with the exception of minor delays. At the same time, brothers and sisters with the disease are similar to each other, but not like their parents.

Differences since the early days:

children with the disease have a flattened face and shortened nose;
on the shortened neck there is a characteristic fold;
at the inner corner of the eye, an epicanthus is noticeable, which is unusual for children of non-Mongoloid races;
the corners of the eyes have different heights, which is often accompanied by strabismus;
the tongue is enlarged, making it difficult for the child to keep his mouth closed;
there is a curvature of the little finger, clinodactyly;
in 20% or more, congenital leukemia, epilepsy, problems with the genitourinary system are also diagnosed.

Features of development

At the age of up to 3 months, a child with Down syndrome is characterized by the following level of development:

reacts emotionally to the attention and appearance of significant adults;

no problems with sucking and swallowing milk;

when lying on his back actively moves his arms and legs;

lifting the head not lower than 4-6 cm from the surface, holding the head - 8-12 seconds;

when lying down, holds the head for about a minute;

compresses and decompresses the cams well;

can touch his own face with his fingers;

actively observes interesting items;

recognizes and responds to mother's voice;

recognizes familiar people and emotionally expresses this.

At the age of 4-6 months:

makes attempts to communicate with relatives, coos and babbles;
knows how to laugh;
shows apprehension and doubt at the sight of strangers;
actively pulls pens into his mouth;
sits and holds the head without much difficulty;
observes interesting objects;
well distinguishes acquaintances, up to frequent guests, from strangers;
keeps track of favorite toys and other items of interest.

Older than 6 - up to 10 months:

responds to tickling with laughter;
smiles when playing or in response to affection;
learns to speak short words of a couple of syllables;
knows that if an object is dropped, it will be picked up;
cries or shows other negative emotions if a toy is taken away from him;
knows how to eat from hands, drink from a mug held by an adult;
begins to crawl and stand up independently with the support of an adult;
passes objects with one or two hands;
shows curiosity about the world around him, cognitive attempts.

At the age of 10-12 months:

reacts by crying to scolding or swearing;
understands that items can be given in response to a request;
eats independently;
hugs parents;
rolls from back to stomach at will;
walks with adult support;
begins the development of fine motor skills in games;
understands when spoken to.

13 to 15 months:

waves and claps as appropriate;
may respond with affirmative or negative head movements;
gets up and walks independently;
plays with a ball, a constructor, cars, a pyramid;
makes the first drawings.

Ages 16-19 months:

understands simple instructions from adults and does them himself or with help from others;
gives items to adults upon request;
learns to take off his own clothes;
washes himself;
can go up and down stairs with the help of an adult.

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