http___www.krenizdravo.com_zdravlje_downov-sindrom-uzroci-simptomi-i-lijecenje_2.xml
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While there are many treatments for Down syndrome, Down syndrome is not a condition that can be cured. However, there are treatments and therapies for the physical, medical and cognitive problems associated with Down syndrome. The goal of medical treatments in Down syndrome are to manage the medical conditions associated with Down syndrome, while early intervention and therapies help many people with Down syndrome live long productive lives. Medical Treatments People with Down syndrome are at increased risk for certain medical problems. Some of the problems commonly faced by people with Down syndrome include heart defects, thyroid, muscle, joint, vision and hearing problems. Other conditions seen less frequently in Down syndrome include leukemia, and seizures. A variety of different approaches are used to treat these medical conditions. Medications Medications can be used to treat certain conditions that occur in people with Down syndrome. For example, if a person with Down syndrome has a seizure disorder, they would benefit from taking anti-seizure medications. People with thyroid problems often take thyroid replacement hormones. While these medications help with their medical condition, they do not have any effect on their Down syndrome. At this point in time, there is no medicine that will cure Down syndrome. Specialists The baby’s pediatrician will be the main person managing your infant’s health issues. Most pediatrician’s have experience dealing with the common medical issues seen in children with Down syndrome. If your child has a heart defect, they will also be followed by a heart specialist called a cardiologist. Children with thyroid problems are often seen by pediatric endocrinologists (a doctor that specializes in hormones). The hearing and vision problems seen in children with Down syndrome are no different from those seen in other children. Hearing problems are evaluated by an audiologist and children with vision problems will see an optometrist or ophthalmologist. Surgical Treatments Some medical conditions seen in children with Down syndrome require surgery. For example, about 40% of children with Down syndrome have congenital heart defects. Some of these defects are mild and may fix themselves, and some heart defects are more severe and will require surgery. Children with Down syndrome can have intestinal defects that also require surgery. The need for surgery does not correlate with the cognitive defect in Down syndrome. In other words, just because a baby needs surgery, there is no reason to suspect that they have a “more severe” case of Down syndrome. Early Intervention Children with Down syndrome are almost always referred to early intervention programs shortly after birth. Early intervention is a program of therapies, exercises and activities designed to specifically help children with Down syndrome or other disabilities. In fact, federal law requires that each state provide early intervention services for all children who qualify, with the goal of enhancing the development of infants and toddlers and helping families understand and meet the needs of their children. The most common early intervention services for babies with Down syndrome are physical therapy and speech therapy. Physical Therapy Physical therapy focuses on motor development. Since most children with Down syndrome have hypotonia or low muscle tone, the goal of physical therapy is to teach the children with Down syndrome to move their bodies in appropriate ways, and to improve their muscle tone. Working with their muscles and movements will help children reach some of their motor milestones and will prevent them from developing problems, such as bad posture, that can accompany low muscle tone. Speech therapy Speech therapy is a very important treatment for children with Down syndrome. Because children with Down syndrome often have small mouths and slightly enlarged tongues, they can have articulation problems. That is, they have trouble speaking clearly. These articulation problems can be compounded by their low muscle tone because you use your face muscles when you speak, and by their hearing problems. A speech therapist will work with an individual to help them learn to communicate clearly. This can be achieved through talking, or in the case of many children with Down syndrome, through sign language. Adulthood Many people with Down syndrome now live independent from their families in assisted living situations or group homes. In order to make this transition, it is important to foster self-help skills and work with a team of support professionals. Occupational therapists will help with learning the skills necessary to make these transitions. Older Individuals with Down Syndrome As people with Down syndrome age, they face a new set of challenges including psychiatric conditions such as depression, and Alzheimer’s disease. The management of these conditions in people with Down syndrome is no different than in people without Down syndrome. It is important that both caregivers and primary care providers are aware of the increased chance for these conditions and screen for them appropriately. Other Support Coping with the emotional and practical aspects of Down syndrome can be overwhelming for caregivers. It can be helpful to meet with a social worker, counselor, or clergy member to talk about feelings or concerns. Joining a Down syndrome support groups can also be helpful. In support groups, patients and their family members get together to share what they have learned about coping with Down syndrome. In order to provide care to another, you must first take care of yourself. SOURCES: American Academy of Pediatrics Policy Statements. Health Supervision for Children With Down Syndrome. Cassidy, Suzanne B. , Allanson, Judith E., (2001) Management of Genetic Syndromes. 1st ed. New York, NY; 2001.
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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.