http___www.krenizdravo.com_zdravlje_downov-sindrom-uzroci-simptomi-i-lijecenje_2.xml
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What is Down Syndrome? Down syndrome is a congenital condition caused by an extra chromosome. The presence of an extra number 21 chromosome causes the distinctive facial features, physical characteristics and the cognitive impairments seen in people with Down syndrome. While people with Down syndrome have some characteristics in common, it is very important to remember that each person with Down syndrome is an individual with strengths and weaknesses. Never make assumptions about a person’s abilities based on their diagnosis. To really understand what it means to have an extra chromsome, it helps to have some basic information about chromosomes. Chromosomes Chromosomes are basically the packages of genetic information that are found in every cell of the human body. Most humans have 46 chromosomes arranged in pairs for a total of 23 pairs of chromosomes. There are twenty-two pairs of what are called autosomes and one pair of sex chromosomes. Women have two X chromosomes and men have an X and a Y chromosome. People with Down syndrome have an extra number 21 chromosome - a condition that is also called trisomy 21. Instead of 46 chromosomes, they have 47. Having three copies of the genetic material on chromosome 21 is what causes Down syndrome. History Down syndrome was first described by Dr. John Langdon Down in 1866. He was a physician in England with a special interest in mental retardaton. While he was the first to describe some of the distinctive characteristics of people with Down syndrome, it wasn't until 1959 that the cause of Down syndrome, an extra chromosome 21, was discovered by Dr. Jerome Lejeune who was studying chromosomes (a speciality called cytogenetics). Chromosomes can be seen under a microscope and Dr. Lejeune was the first to see 47 chromosomes in the cells of an individual with Down syndrome rather than 46. The Purpose of Lists It is somewhat unfair and misleading to simply list all of the symptoms of Down syndrome because each person with Down syndrome is unique, and no one person with Down syndrome will have all of the symptoms listed. The purpose of this list is to provide a basic overview and give you the knowledge that you need to be proactive in caring for your child. Facial and Physical Features Individuals with Down syndrome have some distinct facial features that cause them to resemble one another, as well as their families. They can have almond shaped eyes with epicanthal folds, light-colored spots in their eyes called Brushfield spots, a small somewhat flatter nose, a small mouth with a protruding tongue, and small ears. They also have round faces and somewhat flatter facial profiles. Other physical features seen in people with Down syndrome include a single crease across the palms of their hands, short stubby fingers and a fifth finger that curves inward called clinodactyly. They have a smaller head that is somewhat flattened in the back (brachycephaly), and straight hair that is fine and thin. In general, they tend to have short stature with short limbs, and can have a larger than normal space between the big and second toes. Medical problems Children with Down syndrome are at higher risk to develop a number of specific medical problems. While most people with Down syndrome do not have serious medical problems, it is good to be aware of potential complications so that appropriate medical treatment can be sought early before serious complications arise. Almost all infants with Down syndrome have low muscle tone which is called hypotonia. This means that their muscles are somewhat weak and they appear floppy. While this isn’t a medical problem per se, it is important because muscle tone can affect a child with Down syndrome’s ability to learn and grow. Hypotonia cannot be cured but it generally improves over time. Hypotonia can also lead to some of the orthopedic or bone problems such at atlantoaxial instability that some people with Down syndrome can have. The majority of children with Down syndrome will have some type of vision problem such as nearsightedness, farsightedness, crossed-eyes and even blocked tear ducts. About 40% of babies with Down syndrome are born with heart defects which can range from mild to severe. Somewhere between 40-60% of babies with Down syndrome will have some form of hearing loss. Other problems seen less frequently include gastrointestinal defects, thyroid problems and very rarely leukemia. Mental Retardation All individuals with Down syndrome have some degree of mental retardation. They learn more slowly and have difficulties with complex reasoning and judgement, but they do have the capacity to learn. It is impossible to predict the degree of mental retardation in an infant with Down syndrome at birth (just as it is impossible to predict the IQ of any infant at birth). It is very important that infant and people with Down syndrome receive the support, guidance, education and appropriate treatments needed to maximize their potential and to allow them to live fulfilling lives. SOURCES Stray-Gunderson, K., Babies with Down Syndrome - A New Parents Guide, Woodbine House, 1995. Chen, H., Down syndrome, Emedicine, 2007
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Downov sindrom – uzroci, simptomi i komplikacije Downov sindrom je genetski poremećaj koji uzrokuje cjeloživotnu mentalnu retardaciju, kašnjenje u razvoju i druge probleme. Simptomi variraju u težini, pa se razvojni problemi mogu kretati od umjerenih do ozbiljnih. Downov sindrom je najčešći genetski uzrok poteškoća u učenju. Povećano razumijevanje Downovog sindroma i rana intervencija mogu napraviti veliku razliku u životima djece i odraslih s Downovim sindromom. Simptomi Downovog sindroma Djeca s Downovnim sindromom najčešće, ali ne uvijek, imaju specifičan oblik lica: - Spljoštene crte lica - Malu glavu i kratak vrat - Jezik koji strši - Pomalo kose uši - Neobičan oblik ušiju Djeca s Downovnim sindromom također mogu imati: - Slab tonus mišića - Široke, kratke ruke - Relativno kratke prste - Pretjeranu fleksibilnost Bebe s Downovim sindromom mogu biti prosječne veličine, ali obično sporije rastu od druge djece slične dobi. Djeca s Downovim sindromom imaju određeni sutpanj mentalne retardacije, najčešće blagu do umjerenu. Uzroci Downovog sindroma Downov sindrom javlja se kada dođe do pogrešnog prijenosa kromosoma tijekom stanične diobe stanice, tako da se u jednoj stanici nađe višak cijelog ili dijela jednog kromosoma, koji je numeriran brojem 21. Downov sindrom rezultat je jednog od tri tipa abnormalne diobe stanica: - Trisomija 21 – više od 90% slučajeva uzrokuje trisomija 21. Dijete u tom slučaju ima tri kopije kromosoma 21, umjesto uobičajena dva primjerka. Ovaj oblik Downovog sindroma je uzrokovan poremećajem stanične diobe tijekom razvoja sjemena stanice ili jajne stanice. - Mozaicizam – u ovom rijetkom obliku (1-2%) Downovog sindroma, djeca imaju dvije različite vrste stanica, jednu s normalnim brojem kromosoma, a drugu s 47 kromosoma, tzv. Mozaicizam. Ovaj oblik Downovog sindroma uzrokovan je abnormalnom staničnom diobom nakon oplodnje. - Translokacija ili premještaj – Downov sindrom se može pojaviti kada se dio kromosoma 21 odvoji tijekom podjele stanica i zakvači za drugi kromosom. U tom slučaju broj kromosoma ostaje siti, ali je dio kromosoma 21 translociran. Ovaj oblik Downovog sindroma je rijedak, javlja se u 3-4% slučajeva. Je li Downov sindrom nasljedan? U većini slučajeva, Downov sindrom nije nasljedan. On je uzrokovan greškom u diobi stanica tijekom razvoja jajašaca, sperme ili zametka. Translokacijski Downov sindrom je jedini oblik poremećaja koji se može prenijeti s roditelja na dijete. Međutim, samo 4% djece imaju ovaj oblik Downovog sindroma i samo polovica te djece ga je nasljedila od roditelja. Šanse za nasljeđivanje ovog oblika ovise o spolu roditelja koji nosi translociran kromosom 21. Ako je otac nositelj, rizik je oko 3 posto, dok je kod majke rizik između 10 i 15%. Komplikacije kod Downovog sindroma Djeca s Downovim sindromom mogu imati različite komplikacije, od kojih su neke istaknutije tijekom odrastanja: - Srčane mane – otprilike polovina djece s Downovim sindromom su rođeni s nekom vrstom srčane mane. Ovi srčani problemi mogu biti opasni po život te mogu zahtijevati operaciju u ranom djetinjstvu. - Leukemija – mala djeca s Dowwnovim sindromom imaju veću vjerojatnost za razvoj leukemije od druge djece - Zarazne bolesti – zbog abnormalnosti u imunološkom sustavu, djeca s Downovim sindromom su mnogo osjetljivija na zarazne bolesti, kao što je upala pluća. - Demencija – tijekom života, osobe s Downovim sindromom imaju znatno povećan rizik od demencije. Znakovi i simptomi se često pojavljuju prije 40. godine života, a napadaji su znatno učestaliji. - Apneja za vijeme spavanja – zbog promjena mekog tkiva i kostiju može doći do opstrukcije dišnih putova i apneje. - Pretilost – osobe s Downovim sindromom imaju veću tendenciju prema pretilosti u odnosu na opću populaciju - Ostali problemi – Downov sindrom može biti povezan s drugim zdravstvenim uvjetima, uključujući i blokade probavnog trakta, probleme sa štitnjačom, rana menopauza, napadaji, gubitak sluha, prerano starenje skeletni problemi i loš vid. Koji je životni vijek osoba s Downovim sindromom? Životni vijek osoba s Downovim sindromom se znatno povećao. Godine 1929. Beba rođena s ovom bolesti često nije živjela duže od 10 godina. Danas, osoba s Downovim sindromom u prosjeku doživi 50 i više godina, ovisno o težini zdravstvenog problema. Rana intervencija i liječenje osoba s Downovim sindromom mogu napraviti veliku razliku u ostvarivanju potencijalnih sposobnosti i kvaliteti života. U većini država dostupni su rani specijalizirani programi, u kojima se stimulira senzorna, motorička i kognitivna aktivnost djece s Downovim sindromom. Programi se mogu razlikovati, ali obično uključuju terapeute i specijalne edukatore čiji je cilj pomoći bebi da razvije motoričke sposobnosti, komunikaciju, socijalne vještine i vještine sampomoći. Ako vaše dijete ima Downov sindrom, u liječenje bi trebao biti uključen tim stručnjaka koji će, ovisno o djetetovim potrebama, osigurati djetetu medicinsku skrb i pomoći mu da što potpunije razvije svoje vještine. Osim pedijatra, zdravstveni tim može uključivati i kardiologa, gastroenterologa, endokrinologa, razvojnog pedijatra, audiologa, fizioterapeuta, logopeda, radnog terapeuta, neurologa i sl. Općenito, djeca s Downovim sindromom sporije se razvijaju i možda će im drebati dvostruko duže vremena da bi puzali, hodali, govorili i sl. Međutim, rani program intervencije mogu djeci dati najbolje šanse za uspijeh.