http___www.krenizdravo.com_zdravlje_downov-sindrom-uzroci-simptomi-i-lijecenje_2.xml
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Mental Retardation All individuals with Down syndrome have some degree of mental retardation. They learn more slowly and have difficulty with complex reasoning and judgment, but they do have the capacity to learn. For example, children with Down syndrome are often delayed in their 'developmental milestones' such as walking or talking. While they tend to do so later than other children, children with Down syndrome will learn to walk and talk. It is important to remember that 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). Learning Potential Down syndrome affects a child's ability to learn in different ways, but most have mild to moderate intellectual impairment. Children with Down syndrome can and do learn, and are capable of developing skills throughout their lives. They simply reach goals at a different pace. There is often a misconception that individuals with Down syndrome have a “static” or predetermined ability to learn. This simply is not true. It is now known that individuals with Down syndrome develop over the course of their lifetime and should be treated accordingly. The learning potential of an individual with Down syndrome can be maximized through early intervention, good education, higher expectations and encouragement. Medical Problems While most children with Down syndrome have no significant medical problems, others may experience a variety of medical issues that require extra care. For example, about 40% of all children born with Down syndrome will have a congenital heart defect. Some of these defects are mild and require no treatment and others are more severe and may require surgery and medical management. However, remember that if 40% of children with Down syndrome are born with heart defects, that means that 60% of children with Down syndrome do not have heart problems. Other medical conditions that may occur more frequently in kids with Down syndrome include thyroid problems, intestinal abnormalities, seizure disorders, respiratory problems, weight issues, and a slightly higher risk of childhood leukemia (about 1%). Upper neck abnormalities (atlantoaxial instability) are sometimes found and should be evaluated by a physician. Fortunately, many of these conditions are treatable and the treatments are the same for people with and without Down syndrome. Hearing and Vision Approximately half of all kids with Down syndrome also have problems with hearing and vision. Hearing loss can be due to differences in the structure of the inner ear bones or due to ear infections. Vision problems include crossed-eyes, lazy eye, near and farsightedness, and an increased risk of cataracts. Regular evaluations by an audiologist and an ophthalmologist are necessary to detect and correct any problems before they affect language and learning skills. Treatments are typically glasses and hearing aids. Personality, Behavior and Psychological Conditions Many older studies describe a ”Down’s syndrome personality.” However, this limited view is falling out of favor as more becomes known about Down syndrome. It can be hard to discuss common behavioral traits seen in people with Down syndrome without stereotyping these individuals. However, most parents with children with Down syndrome would report that their children are generally happy, sociable and outgoing. While this may generally be true, it is important not to stereotype individuals with Down syndrome. They experience a full range of emotions and have their own characteristics, strengths, weaknesses and styles. No two people with Down syndrome will have identical personalities. While people with Down syndrome may not have a “personality type,” they often share certain behaviors or coping mechanisms. For example, many people with Down’s syndrome prefer routine, order, and sameness which is their way of dealing with the complexities of everyday life. This preference for routine can sometimes be seen as stubbornness. Another behavior often seen in people with Down syndrome is “self-talk.” Self-talk is the act of talking aloud to oneself and it is thought that people with Down syndrome use self-talk as a way of processing information and thinking things through. While people with Down syndrome may have some behaviors and coping mechanisms in common, they also face an increased risk for certain psychological conditions. Higher rate of anxiety disorders, depression and obsessive-compulsive disorder have all been reported in Down syndrome. The treatment for these disorders in people with Down syndrome is the same as in people without Down syndrome - behavior modification, counseling and possibly medication. Bottom Line While children with Down syndrome do have a recognizable features and common medical problems, it is important to remember that most children with Down syndrome are healthy. Their risk to develop certain medical problems may be slightly higher, but the problems seen in children with Down syndrome are no different than the problems can be seen in children without Down syndrome and the treatment is the same for both groups. Although a lot of different features have been described in Down syndrome not all of them are important or relevant and it is important to learn to tell the difference. While many older texts describe a ”Down syndrome personality,” this view is falling out of favor as more becomes known about Down syndrome. That being said, people with Down syndrome often have overlapping coping mechanisms and behaviors. Rather than chalking their behavior up to their genetic condition, it is most helpful to try to understand what is causing the particular troublesome behavior. 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.