Down syndrome is defined as the most common genetic cause of mild and moderate mental retardation, a malady that is present in babies even since conception.
Table of Contents
- 1 Why Is It Called Down Syndrome?
- 2 What Is Down Syndrome?
- 3 Symptoms
- 4 What Is the Most Common Cause of Down Syndrome?
- 5 Is Having a Baby with Down Syndrome Hereditary?
- 6 Down Syndrome Related Disorders
- 7 Age Categories Affected
- 8 How Is Down Syndrome Treated?
Why Is It Called Down Syndrome?
Down syndrome has been named after John Langdon Down, a physician from the United Kingdom who was the first that described the characteristics of this syndrome back in 1866. There are a few countries, especially Australia and United Kingdom, that refer to it as Down`s syndrome. In the United States, this would denote the physician as having had this malady. It`s a bit confusing sometimes, but either way you choose to express yourself is fine.
What Is Down Syndrome?
Down syndrome is a genetic affection, not a disease. This means that people diagnosed with this syndrome show a chromosomal change occurred during conception, present during their entire life, which cannot be healed. The chromosomal dysfunction in Down syndrome manifests by the additional presence of a part or even the entire chromosome 21. More exactly, someone with this syndrome has “2 times” chromosome 21, having a total of 47 chromosomes, compared with 46 as it`s normally considered. It`s estimated that in Romania are diagnose around 30.000 people with this syndrome.
There are 3 types of Down syndrome, depending on the aspect of chromosome 21:
- Trisomy 21.
- Mosaicism (in 2% of cases).
- Translocation (4$ of cases).
Usually, Down syndrome is clinically diagnosed in the neonatal period or at infants, due to evocative dismurs, which although varying in distinct patients, has a characteristic phenotypic appearance. A newborn with trisomy 21 has a weight and height below the normal level of the appropriate age, articular hyperextension, reduced or absent Moro reflex, muscle hypotonia and weak rotulus reflex. The newborn has a rather small and round skull with a flattened occiput as well as wide fountains which will close rather late. The face is round, the face profile is flat because of the hypoplasia of the nose`s own bones.
About half of the patients with this syndrome have epicantus. All newborns that experience this medical condition need to be examined by an expert for the detection of congenital cataract as well as other ocular abnormalities. The iris might have a spotted appearance. These spots are small, round or irregular, and appear as a crown at the mid-3rd junction with the outer 3rd of the iris. The ears are inferiorly inserted, small and dysplastic. The antehellix is prominent and the helix is rolled. The mouth is open and small, and has a lingual protrusion.
The neck is short and thick, with a bit of skin in excess. Hands are short and wrist-tipped with bumps and one single palm flexion.
Hearing is small, and deafness or hearing loss may affect almost half of patients who experience this syndrome at any particular age.
Around 40% to 50% of children with this syndrome present congenital cardiovascular abnormalities. Among them, 30% to 50% of them present complete atrioventricular septal defect. Another congenital cardiovascular abnormality that might occur is the common atrioventricular channel. Digestive malformation like duodenal stenosis, annular pancreas, duodenal atresia or umbilical hernia might be present as well. The patients who experience this condition have a mental retardation which might range from mild to moderate. The factor of intelligence might decrease after the first year of life.
What Is the Most Common Cause of Down Syndrome?
This malady is caused by an abnormal cell division, most frequently in the ovocyte, before or during conception. Less frequently, abnormal cell division may affect the spermatozoid during conception.
The factors that determine cells to divide abnormally aren`t known! Normally, a child inherits 46 of chromosomes, 23 of each parent. Following abnormal cell division, there`s an additional genetic material that results from the Down syndrome, usually one more chromosome.
Down syndrome is classified according to the specific way in which the additional genetic material is produced.
Is Having a Baby with Down Syndrome Hereditary?
Most cases involving this syndrome aren`t inherited. When the medical condition is caused, the abnormality occurs randomly during the formation of reproductive cells in one of the parents. This chromosomal abnormality generally happens in egg cells, but it may occur in sperm cells on occasion as well. An error in cell division, known as nondisjunction, results in a reproductive cell with a number of chromosomes that is abnormal. For instance, a sperm cell or egg might gain an additional copy of chromosome 21. If any of these abnormal reproductive cells will contribute of the genetic makeup of a baby, he`ll have an additional chromosome 21 in each cells of the body.
Persons with translocation Down syndrome may inherit the medical condition from a parent that is affected. That parent will carry a rearrangement of genetic material between chromosome 21 and a different chromosome. This particular rearrangement is known as balanced translocation. There won`t be any genetic material gained or lost in such rearrangement, so these changes generally don`t lead to any health issues. Still, as this specific translocation is passed from one generation to another, it might become unbalanced. Persons who inherit a translocation that is unbalanced and involves chromosome 21 might have additional genetic material from chromosome 21, causing Down syndrome.
Mosaic Down syndrome isn`t inherited, just like trisomy 21. It happens like an event that is randome in early fetal development during cell division. Due to this result, some of the cells of the body have the usual 2 copies of chromosome 21, while other cells have 3 copies of this particular chromosome.
Down Syndrome Related Disorders
The baby may also present other affections associated with this syndrome, such as:
- Level of intelligence is normal, which affects almost every child with this malady, but usually it`s only mild to moderate; serious mental retaration is rare.
- Heart illnesses: around 50% of baby with this syndrome are born with heart diseases (atrioventricular channel, ventricular septal defect, patent ductus arteriosus, aberrant subclavian artery, tetralogy of Fallot).
- Most of them are diagnosed at birth or after birth;
- Diseases, such as: thyroid disease (15%), retinoblastoma, nystagmus (15%), opacity of the lens, cataract, testicular tumors, refractive defects (50%), stenosis of the nasolacrimal duct) (25-50%), celiac disease and ocular disorders (33%), transient newborn myeloproliferative disease, neonatal polycythemia, leukemia (see section 4.4), myocardial infarction, alopecia areata, myocardial infarction, myoclonic seizures, myocardial infarction, obesity, myocardial infarction, myocardial infarction, (10-30% risk), infertility.
As when it comes to Down syndrome, there are distinct physical features found, the confusion of these signs with the one of other medical conditions is unlikely for the medical staff. In rare cases, mosaicism can be confused with other inherited illnesses or developmental disorders.
Age Categories Affected
Even though this syndrome represents a challenge, most people who experience this medical affection can live a normal, happy and active life. A lot of the challenges are related to the cognitive dysfunction (mental retardation) and health issues.
People with this syndrome are prone to certain illnesses and affections, such as hypothyroidism and other health issues, such as loss of hearing or respiratory infections. The child can be helped to overcome these issues, as well as other difficulties, in a safe the lovable climate. He needs to benefit of regular medical assistance provided by a team of specialists from the medical specialists.
Also, for the child it can be useful an access to an appropriate environment, as well as to activities that stimulate exercise and interactions with other children. The effects of this syndrome usually change in time. Although the specific effects vary for each and every child, it might prove to be useful to familiarize yourself with some of the general aspects of Down syndrome.
Infants usually reach early developmental and growth milestones (such as turning from one side to another, sitting, standing or speaking) later than the other children. They may need special therapy, like logotherapy.
Health issues and developmental disorders may contribute to the occurrence of behavioral problems. For instance, a child may develop a provocative oppositional disorder, in part due to communication issues or interpreting the other people around him in a wrong manner. The patience that the parents need to have to face all the situations around him, socialization or educational opportunities, and appropriate physical activities, can prove to be quite helpful in solving or preventing the behavioral problem. If a child may prove to have mental issues, like depression or anxiety, treatment and medical advice might be required.
Puberty starts around at the same age as for the other teenagers. It`s recommended to the know the possible social difficulties and vulnerable points adolescents with this syndrome can have. For instance, adolescents with Down syndrome are susceptible to abuses, injuries and other different types of aggression. Also, they may have more difficulties than the others, in confronting strong emotions and strong feelings specific to their age. Sometimes, these tensions can lead to mental issues, especially depression.
Adolescents usually manage to finish high school, if their disabilities aren`t severe. Professional schools are useful for lots of young adults, which can therefore learn how to work in different places, like stores, hotels or restaurants.
Most adults who experience this syndrome are doing rather well in society. Frequently, they are employed, have friends and romantic relationships, and take part in community activities.
Men with this syndrome are most frequently sterile and cannot have children. Lots of women who experience this syndrome can have children, but menopause is usually installed early. Professional schools are useful for lots of young adults, who can learn how to work in a specific field more easily.
How Is Down Syndrome Treated?
A team of experts will direct treatment for Down syndrome, based on the symptoms and unique physical problems of the child. Through close cooperation with these experts and other specialists from the medical field, the child can be aided to become as independent as he can and to have a life as normal as possible.
It`s perfectly normal than when the child is born with this malady, mothers experience a large range of feelings. Even if they knew even during pregnancy about the child`s condition, the first few weeks of life are generally quite difficult, as they manage to get used to this tough diagnosis. The confirmation of this diagnosis needs karyotyping.
After birth, the test is generally based on a sample of the child`s blood. Until the results of the test are complete, they might take up to 2 or 3 weeks. This waiting period can be quite hard to bear, especially if the previous results were inconclusive and the newborn has only a few discrete features characteristic of this syndrome.
Newborns with Down syndrome will require benefiting of repeated medical investigations and various examinations from the first month. These particular tests are done to monitor the malady and early detection of any common illnesses associated with this syndrome, as well as other medical issues. These examinations are a very good opportunity to talk the issues that concern the parents.
Regular medical examinations, aiding the child to adapt to physical and social changes, and promoting independence are essential parts of treatment. Physical investigations offer expert doctors the ability to monitor the child for early symptoms frequently associated with this syndrome and other health issues.
Specialists investigate specific issues at various ages, like cataracts or other particular ocular conditions, during the first year. It`s recommended to look for medical advice at regular examinations or whenever required.
Most parents with children with Down syndrome have the same age-related issues:
- Infant specific issues frequently include getting emotional support and info about this syndrome.
- Newborn specific issues, often concentrated on prophylaxis of colds and infections; also, different types of therapies might be tried as well, depending on the child`s development and growth rate.
- Problems specific to early childhood are generally related to the child`s development and growth rate, normally slower than other children that have the same age, social skills, exercise and diet, very likely behavior, and prophylaxis of present diseases.
- Issues specific to medium and late childhood, are intensively dominated by gaining independence, education and social skills.
- Issues specific to the adolescent are often correlated with the transition to adulthood and any future plans; for instance, housing – there might also be sexual problems and inter-human relationships.
The ligament laxity found in children with this malady predisposes them to bone dislocations, especially at the neck. Doctors may ask for radiographs of the spine, especially if the child wants to practice sports. Usually, radiographs are asked one time. It may be required for certain sports to be avoided (soccer, scuba diving or contact sports).
The attempts of teaching the child to be independent are influenced by his level of intelligence and physical skills. Although it may require more time for him to learn some skills, the results may be surprising. With proper guiding and encouragement, the child may acquire the following skills:
- Walking and other motor behaviors: the child can be taught to incorporate their muscles through targeted play games; as the child grows, parents may ask assistance from a physiotherapist or pediatrician to create an exercise program to help maintain and increase physical abilities and muscle tone.
- Independent feeding: parents can help their child to learn how to eat on his own by taking meals together; this process needs to be done on a step-by-step basis, beginning from allowing him to eat with his hand and offer him to drink liquids with increased viscosity.
- Dressing: the child can be taught to dress on his own, if he`s offered more time for explanations and practice.
- Communication: Simple gestures, like the child`s showing and naming objects, might be quite useful to teach him how to speak.
- Care & hygiene: the child will need to learn about the importance of being clean; parents must make a daily routine for bathing and care. As the child develops, this will become more and more important. Gradually, there`ll be new steps added to his daily routine, like the use of deodorant.