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Down Syndrome Down syndrome is a set of mental and physical disorders caused due to a pre-birth genetic problem. Children with Down syndrome have certain specific features, like a short neck or a flat face, along with varying range of intellectual disabilities. It’s a lifelong condition, but with proper care and management, children with Down syndrome can lead healthy and independent lives. Cause The major cause of Down syndrome is unusual cell division in early embryological development. In normal cases, a baby inherits a total of 46 chromosomes, half from each parent. These chromosomes carry the genetic material which controls the development of all body organs, including the brain. In case of Down syndrome, the baby inherits an extra chromosome. This abnormal chromosome with extra genetic material changes the normal development of the child’s body and brain. The reason for inheriting this extra chromosome is still unknown. Complications There are more than fifty signs or features of this disorder. Every child with Down syndrome has certain specific signs or health problems. However, some of the problems are common in all. They include: Body Size and Shape - Hypotonia: Decreased muscular tone i.e. hypotonia all over the body. - Short Stature: Children with Down syndrome have slow growth and are usually shorter than an average adult individual. - A Wide, Short Neck: Children with Down syndrome have excessive skin and fat on their necks. - Stocky And Short Arms And Legs: Children with Down syndrome have short arms and legs, and their toes have wide spaces between them. Facial Features - A Pushed-In Nasal Bridge: Children with Down syndrome have a flat nasal bridge between the eyes and nose. - Slanted Eyes: Children with Down syndrome have slanted eyes, along with small spots on the iris i.e. the colored region of the eyes. - Small Ears: The ears are small and set in a lower position on the head. - Irregular Teeth: The teeth are crooked and irregular and they develop late as compared to the teeth development of normal children. - Abnormally Shaped Tongue and Mouth: The mouth’s roof i.e. the palate is usually narrow with a downward curve, and the tongue partially sticks out. Health Issues - Cognitive Disability: Most of the children with Down syndrome suffer from mild to severe intellectual disability, due to abnormal brain development. - Cardiovascular Defects: Almost half of the children with Down syndrome have cardiovascular disorders since birth. - Other Diseases: These children also suffer from ophthalmic disorders, celiac disease, hypothyroidism, hearing problems, lung infections, and dental diseases. - Psychological Disorders: Children with Down syndrome usually suffer from depression, anxiety, and other behavioral issues associated with autism or ADHD. Diagnostic Tools The American College of Gynecologists and Obstetricians recommends screening and diagnostic tests for all pregnant women for the identification of Down syndrome in the fetus. Screening Test The screening tests are performed in two steps which include: Blood Test This test measures the amount of PAPP-A i.e. Pregnancy Associated Plasma Protein-A as well as a pregnancy hormone called as HCG i.e. Human Chorionic Gonadotropin. With this, abnormal levels of HCG and PAPP-A indicate a problem in fetus development. Ultrasound Ultrasound is done to measure a particular area on the backside of the fetus’s neck. This test is called as Nuchal Translucency Screening Test. If there are any abnormalities in the fetus development, more fluid is collected in the neck tissue. Diagnostic Tests If the results of the screening tests are worrisome, then your doctor will consider the diagnostic tests to confirm the diagnosis of Down syndrome. These tests include: Amniocentesis In this test, amniotic fluid sample is withdrawn from the uterus of the mother and it’s used to evaluate the chromosomes of the baby. This test is usually performed in the second trimester and confirms the presence of Down syndrome in the baby. Chorionic Villus Sampling In this test, the placental cells are taken to evaluate the chromosomes of the fetus. This test is performed after ten weeks of pregnancy and also carries a risk of miscarriage. Management When you’ll learn about your child being diagnosed with Down syndrome, you’ll experience a mixture of fear, anger, worry, and sorrow. You’ll not know what to do and how to take care of a child with disability. The best way to handle the situation is to acquire information and support. You must take the following necessary steps to take care of your child. Gather a Team of Specialized and Trusted Professionals You’ll have to make significant decisions regarding your child’s treatment and education. Hence, organize a team of trusted healthcare professionals and teachers. These people will help you in evaluating the resources available in your area, and explain the federal and state programs for children with Down syndrome and other disabilities. The team which will take care of your child’s medical needs may include the following professionals: - Primary care pediatrician, in order to provide daily routine care - Pediatric gastroenterologist - Pediatric cardiologist - Pediatric endocrinologist - Pediatric neurologist - Developmental pediatrician - Pediatric ophthalmologist - Pediatric ENT specialist - Physical therapist - Audiologist - Occupational therapist - Speech pathologist Early Intervention Programs It’s important to remember that early intervention, in case of children and infants with Down syndrome, can make a massive difference in dealing with their disabilities and in improving their quality of life. You must inquire about the early intervention programs available in your area. These programs offer early stimulation to children with Down syndrome with the necessary motor, sensory, and cognitive activities. These programs basically involve special educators who help your child in developing their language, motor, social, and self-help skills. Approach Other Families Dealing With Identical Issues Most of the communities have different support groups to help the parents or guardians of children with Down syndrome. Internet support groups for parents with disabled children are also available. Also, trusted friends and family members can be a great source of support and understanding. Stay Positive The key to deal with this situation is to maintain a positive attitude throughout. You must remember that most of the children with Down syndrome study in mainstream schools, develop reading and writing skills, acquire jobs and live a fulfilling and independent life. © Teresa Boardman, Nanny Options. 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"Vrlo je teško suočiti se s postojećim predrasudama o Down sindromu, a istovremeno se nositi sa visokim zahtjevima akademskog obrazovanja", kaže Pablo, zahvaljujući kojemu 88 posto djece s Down sindromom u Španjolskoj ide u redovne škole Španjolac Pablo Pineda rođen je s Down sindromom, u njegovu genetskom naslijeđu kromosom 21 nije, kako je to uobičajeno, dvostruk već trostruk. Pineda je prvi Europljanin koji usprkos mnogobrojnim predrasudama spram dijagnoze ima fakultetsku diplomu. Završio je studij pedagogije, a namjerava steći i diplomu iz psihopedagogije. Djeca s Down sindromom, kaže prognoza pri njihovu rođenju, cijeloga života neće moći nadići psihičku razinu četverogodišnjaka. "Imao sam sreću jer me roditelji, a tako i okolina, nikada nisu doživljavali kao bolesno dijete. Također sam imao sreću jer sam naišao na učitelje koji su me jednostavno iskreno voljeli“, rekao je Pineda. "Vrlo je teško suočiti se s postojećim predrasudama o Down sindromu, a istovremeno se nositi sa visokim zahtjevima akademskog obrazovanja", kaže Pablo Pineda za Disability world. "Down sindrom za mene nije bolest, već osobno obilježje. Reakcije poput sažaljenja, zabluda da smo neinteligentni, društvena i moralna netočna tumačenja koja sam prevladao uz niz diskriminirajućih stavova o kojima bi mogao napisati knjigu dio su mog razvoja. Najbolje tijekom studiranja bio je osjećaj neovisnosti i slobode. Ne smije nas se tretirati kao bolesne, ja sam zdrav. Na sveučilištu nitko nije očekivao da će imati kolegu s Down sindromom, ali nakon komunikacije s ostalim učenicima sprijateljio sam se sa svima, dok sam za profesore bio samo još jedan student. U budućnosti želim raditi u području obrazovanja. Postati primjer ako nam se daje da radimo prema mogućnostima, možemo učiniti što se očekuje od nas. Cilj mi je ukazati koliko možemo postići kada društvo odradi svoj dio na pravilan način. Ako sebi postavljamo barijere, uništavamo mogućnosti i za druge." Danas 88 posto djece s Down sindromom u Španjolskoj ide u redovne škole upravo zahvaljujući Pablu. Istina o sindromu Down Sindrom Down je jedan od najčešćih genetskih poremećaja. Jedno od 650 novorođene djece u općoj populacije rađa se s ovim poremećajem. Čak 80 posto djece s Down sindromom rodile su majke mlađe od 35 godina, međutim vjerojatnost i učestalost pojave sindroma Down značajno raste s godinama majke. Mnogi imaju kvocijent inteligencije koji ih svrstava među osobe s blagim ili srednjim intelektualnim teškoćama. Djeca sa sindromom Down svakako se mogu podučavati, a njihov puni potencijal još uvijek nije otkriven. Danas sve više osoba sa sindromom Down živi kod kuće s obiteljima i sudjeluju, obavljajući jednostavne zadatke, u svakodnevnim aktivnostima zajednice. Druže se s osobama koje imaju neke poremećaje, kao i sa zdravim osobama, stvaraju prijateljstva, zapošljavaju se, sudjeluju u sportskim aktivnostima. Sve više djece sa sindromom Down potiče se na uključenje u redovan sustav školovanja sa svojim vršnjacima. U nekim slučajevima uključeni su u posebne programe, dok su u drugim slučajevima potpuno uključeni u svakodnevni školski rad s ostalom djecom. Cilj je u potpunosti uključiti takve osobe u edukacijski i socijalni život zajednice. Osobe sa sindromom Down je moguće zaposliti na velikom broju radnih mjesta. Često se radi o službeničkim poslovima ili raznoj ispomoći, no osobe sa sindromom Down na radnom mjestu dobivaju osjećaj da su korisni i ponose se svojim postignućima. Na radno mjesto uvijek donose svoj entuzijazam, pouzdanost i predanost poslu. Djeca sa sindromom Down su izrazito emotivno topla, gotovo uvijek unose vedrinu u sredinu u kojoj se nađu, vrlo su tolerantna, blage naravi i potiču izrazitu naklonost sviju onih koji s njima dolaze u kontakt. Odrasle osobe sa sindromom Down mogu stupati u veze, od kojih neke završavaju i brakom. Mogu imati i djecu, no valja imati na umu da u tom slučaju postoje 50-postotni izgledi da će i dijete imati Down sindrom. Downov sindrom je nemoguće izliječiti. Svake godine čine se veliki koraci u identificiranju gena na 21. kromosomu koji uzrokuju karakteristike sindroma Down. Danas su znanstvenici čvrsto uvjereni da će u budućnosti, napretkom genetike i istraživanjem ljudske DNK, biti moguće poboljšati, ispraviti ili spriječiti mnoge probleme povezane s Down sindromom. Piše: Božica Ravlić