Osebe s senzornimi ovirami

Odgovarjajo: Metka Knez, univ. dipl. soc. del.

"Uschev" sindrom

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Pozdravljeni!

Zanima me, ali veste kaj vec o tako imenovanem "uschevem" sindromu. Kot sem zasledila, se ta sindrom pojavlja pri gluhih osebah zaradi zmanjšanega vidnega polja. Hvaležna vam bom za kakršenkoli odgovor!

S spostovanjem, Brigita Klepej
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Ta sindrom je precej razširjen, povezan je pa s sluhom in vidom. Naglušni ali gluhi osebi se vid sčasoma tako oslabi, da ima zooženo vidno polje, meglen vid, včasih pa vodi do popolne slepote. Pojavi se razmeroma pozno, v poznih najstniških letih ali pogosteje v odrasli dobi. Ta sindrom nima nobene povezave s klasično kratkovidnostjo ali z nošenjem očal, ampak je povezan z vidom in sluhom.
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Da ne bo mineštra:

Usher's s:
Congenital nerve deafness and retinitis pigmentosa; autosomal recessive inheritance.
Skratka recesivno dedovanje.
Dedna bolezen.
Moraš imeti oba kromosoma spremnjena.
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Hvala lepa za odgovor.
Zanima pa me se, ali je mozna povezava med tem sindromom in psihicnimi motnjami oziroma ali je mozno, da omenjeni sindrom povzroca motnje v dusevnem zdravju?
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To pa dvomim da ti kdo lahko odgovori.
Po moji presoji. Tud če je človek "zdrav" ima lahko motnje v psihičnem razvoju - vpliv okolja, in značaja, vsaj.
Kaj šele če si prirojeno gluh in se ti vid slabša. In ti gre navzdol.
Verjetno pa lahko ustrezno okolje tudi kaj pomaga k stanju psihe.
Ja, človek ima smolo, in oba starša oz predniki so prispevali.

Ampak glej. Od tega ne umreš. Imaš pa lahko kako bolezen ko ti zasebnik v belem reče, da ti pripisuje še največ npr tri mesece. No ja nekaterim še toliko ne.

Smo že ljudje taki, da nam nikoli ni prav.
Danes čudovito lije, in če bi bilo od večine ljudi odvisno, bi danes sijalo sonce, in toplo bi bilo.
Torej, je bolje da človek tu nima nobene vloge.
Namreč dež je nuja za življenje, ker vsi rabimo vodo.
Če si naglušen jokaš.
Če si gluh jokaš.
Če se ti tudi vid slabša jokaš.
In tudi znatno število tistih, ki so zdravi, tudi joka in so depresivni.
Pa razumi će moreš.
Nikoli enim ni prav.
Sam si pravim tako, da nikoli ni tako slabo, da ne more biti še slabše.
In svet in lajf se mi zdi znosnejši.
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Povezava ni nujna. Osebe so lahko povsem normalne. Imajo pa velike težave pri sprejemanju informacij iz okolja, kar lahko ovira razvoj komunikacije in sposobnosti. Vsekakor je vredno delati na tem, saj so uspehi veliki. Edina zanesljiva pomoč je osebna asistenca, ki je hkrati tolmač in vez z okoljem.
Če vas zanima kaj več, se oglasite, da vam posredujem kontaktne podatke.
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Pravilno se napiše Uscherjev sindrom. Uscherjev sindrom prizadene le sluh in vid in posredno komunikacijo (vez z okoljem), ne pa tudi vedenja, ipd. Komunikacija je prizadeta zaradi istočasne okvare vida in sluha.
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Sam sicer ne maral plonka, ampak tud pametnjakovičev ne
evo:
What is Usher syndrome?
Usher syndrome is the most common condition that involves both hearing and vision problems. A syndrome is a disease or disorder that has more than one feature or symptom. The major symptoms of Usher syndrome are hearing impairment and retinitis pigmentosa, an eye disorder that causes a person's vision to worsen over time. Some people with Usher syndrome also have balance problems. There are three general types of Usher syndrome. Although the syndrome was first described by Albrecht Von Graefe in 1858, it was named for Charles Usher, a British eye doctor, who believed that the condition was inherited or passed from parents to their children.

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Who is affected by Usher syndrome?
Approximately 3-6 percent of all deaf children and perhaps another 3-6 percent of hard-of-hearing children have Usher syndrome. In developed countries such as the United States, about 4 babies in every 100,000 births have Usher syndrome.

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What causes Usher syndrome?
Usher syndrome is inherited or passed from parents to their children through genes. Genes are located in every cell of the body, except for red blood cells, which don't have a nucleus. Genes contain instructions that tell cells what to do. Some genes specify traits such as hair color. Other genes are involved in the development of body parts, such as the ear. Still others determine how parts of the body work. Each person inherits two copies of each gene, one from each parent.

Sometimes genes are altered or mutated. Mutated genes may cause cells to act differently than expected. Genes for Usher syndrome are autosomal recessive, a term meaning that 1) Usher genes are located on chromosomes other than the sex chromosomes, and 2) both parents must contribute the mutated gene to the child before the disorder is seen. Usually, parents are unaware that they have an Usher gene because they would need two of the mutated genes in order to show signs of Usher syndrome. A number of different genes have been found to cause the various types of Usher syndrome.

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What are the types of Usher syndrome?
The three types of Usher syndrome are Usher syndrome type 1 (USH1), Usher syndrome type 2 (USH2), and Usher syndrome type 3 (USH3). USH1 and USH2 are the most common types. Together, they account for approximately 90-95 percent of all cases of children who have Usher syndrome.

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What are the characteristics of the three types of Usher syndrome?
People with USH1 are profoundly deaf from birth and have severe balance problems. Many of these individuals obtain little or no benefit from hearing aids. Most use sign language as their primary means of communication. Because of the balance problems, children with USH1 are slow to sit without support and rarely learn to walk before they are 18 months old. These children usually begin to develop vision problems by the time they are ten. Visual problems most often begin with difficulty seeing at night, but tend to progress rapidly until the individual is completely blind.

Individuals with USH2 are born with moderate to severe hearing impairment and normal balance. Although the severity of hearing impairment varies, most of these children perform well in regular classrooms and can benefit from hearing aids. These children most commonly use speech to communicate. The visual problems in USH2 tend to progress more slowly than the visual problems in USH1. USH2 is characterized by blind spots that begin to appear shortly after the teenage years. When an individual's vision deteriorates to blindness, his or her ability to speechread is lost.

Children born with USH3 have normal hearing and normal to near-normal balance. Hearing worsens over time. However, the rate at which hearing and sight are lost can vary between affected individuals, even within the same family. Children develop noticeable hearing problems by their teenage years and usually become deaf by mid- to late adulthood. Night blindness usually begins sometime during puberty. Blind spots appear by the late teenage years to early adulthood. By mid-adulthood, the individual is usually blind.

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How is Usher syndrome diagnosed?
Hearing loss and retinitis pigmentosa are rarely found in combination. Therefore, most people who have retinitis pigmentosa and hearing loss probably have Usher syndrome. Special tests such as electronystagmography (ENG) to detect balance problems and electroretinography (ERG) to detect retinitis pigmentosa help doctors to detect Usher syndrome early. Early diagnosis is important in order to begin special educational training programs to help the individual manage the combined hearing and vision difficulties.

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How is Usher syndrome treated?
Presently, there is no cure for Usher syndrome. The best treatment involves early identification in order to begin educational programs. The exact nature of these educational programs will depend on the severity of the hearing and vision impairments as well as the age and abilities of the individual. Typically, individuals will benefit from adjustment and career counseling; access to technology such as hearing aids, assistive listening devices, or cochlear implants; orientation and mobility training; and communication services and independent-living training that may include braille instruction, low-vision services, or auditory training.

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What research is being conducted on Usher syndrome?
Researchers are currently trying to locate the genes that cause the syndrome and identify the function of those genes. This research will lead to improved genetic counseling and early diagnosis, and may eventually expand treatment options.

Scientists are also developing mice that have the same characteristics as humans who have the various types of Usher syndrome. Mouse models will make it easier to determine the function of the various genes involved in Usher syndrome. Research is also being conducted to improve the early identification of children with the syndrome. Treatment strategies such as the use of cochlear implants for hearing impairment and intervention strategies to alleviate retinitis pigmentosa are also being examined.

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What are some of the latest research findings?
Currently, 12 loci have been found to cause Usher syndrome. A locus is a small segment of chromosome on which one or more genes are housed. For seven of the 12 loci, genes and the proteins that they encode have been identified. The genes that cause Usher syndrome are MY07A, USH1C, CDH23, PCDH15, and SANS, which cause USH1; USH2A, which causes USH2; and USH3A, which causes USH3. The resulting proteins that the genes encode help cells in the retina, the part of the eye that receives images of objects, and the cochlea to function.

In April 2003, NIDCD researchers, along with their research collaborators from universities in New York, N.Y., and Tel Aviv, Israel, pinpointed a mutation, named R245X, of the PCDH15 gene that accounts for a large percentage of USH1 cases in today's Ashkenazi Jewish population. (The term Ashkenazi describes Jewish people who originate from eastern Europe.) Because of this finding, researchers conclude that Ashkenazi Jewish infants with bilateral, profound hearing loss who lack another known mutation that causes hearing loss should be screened for the R245X mutation. If a child's USH1 is discovered early on, before she loses the ability to see, then that child is more likely to benefit from the full spectrum of intervention strategies that are available to help her communicate and participate in life's activities


Skratka, pametnakoviči lohka vidte, da se piše Usher, ne pa Uscher

Tle je taka razlika kot npr ŽLICA ali ŽILICA
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Kako odkrijejo (potrdijo) ta sindrom in kdo to zdravi?
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Saj sem postiral ameriški zapis. A ne znaš angleško.


Otrok ima motnje sluha in vida. Ima lahko tudi motnje ravnotežja.

Pol ga pogleda okulist al nevrofiziolog. Pa še ORL. Naredi še elektronistagmogram pa elektroretinogram.
Pa verjetno je še kaki slično prizadet v sorodstvu v preteklosti.
Pa oko ti pogleda.
Zdravljenja za enkrat še ni.
Samo rehabilitacija v komuniciranju.

Kar se pa psihe tiče, bi psihiatra rabil marsikdo.
Še jest bi kdaj šel k psihiatru, da bi bil lepši.
Psihično mislim.
Ni ga čez lepo dušo.
Zdravo kleno, podjetno, samozavestno..........
Ja, res bi ga občasno rabil.
Pa nimam usherja.
Pozdrav.
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Malo sem presenecena nad vasim odzivom! Forum je vendar zato, da pomaga resevati tezave. Vljudno sem se obrnila na vas, zato vas opozarjam, da nimate pravice odgovarati na tako splosno vprasanje s tako prezirljivim tonom! Se posebej, ker ne veste, kaksno je ozadje za postavitev vprasanja. Pa vendar. Taksno diagnozo so postavili zdravniki specialisti, ki se ocitno spoznajo na svoje delo. Ker pa se rada za vsak primer se sama pozanimam kjer se le da, sem vprasanje postavila na forum. In tako naj vam povem, da je vas odgovor napacen! Vsaj po ugotovitvah zdravnikov. Usherjev sindrom vpliva na dusevno zdravje, vendar zelo redko in tega ne znajo zdraviti. Vprasanje pa sem kljub temu odgovoru postavila zato, ker sama mocno dvomim v to diagnozo. Vsekakor pa se vam najlepse zahvaljujem za sodelovanje.
LP, Brigita Klepej
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Brigita!!

Me zelo veseli,da si se pozanimala in da zdaj veš kako izgleda "Usherjev" sindrom!!S temi forumovci se ne moreš dopisovati,ker je tu več kot preveč zelo kratke pameti....


Lp
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Tale o kratki pameti je pa dobra Robert. Spremljam te od samega začetka, in če sem čisto iskren nisi podal ene izjave, ki bi dokazala tvojo "dolgo pamet". Še vedno čakamo, da boš nekaj napisal in prišel na pogovor v ljubljansko društvo gluhih. In končno že nekaj naredi ne pa da obsojaš še par tistih preostalih borcev na tem forumu. Intelekt pa tak.
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Bravo, AliaR!!!
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AliaR!!

Robert nikoli ne bo nikogar obsojal par borcev,ki pišete(ali pišemo) na forum!!Če imaš dober spomin izpred dveh let,ko sem ogromno pisal o vodstvu murskosoboškega društva,še bolj pa o g.Gornjecu in malo je manjkalo,da bi šel na sodišče!!Rešila sta me g.Petrič Anton in g.predsednik Maček,da nisem bil na sodišču!!Kar se pa tiče obiska v vašem društvu pa zame ni problem priti,le da si moram vzeti čas(pa še to ne vem v katerem društvu si ti)!!Pa lep pozdrav iz MS in pa seveda brez zamere!!
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O kaanem sodiscuu govoros RobertH,kdo te ustrahuje lepo te prosim.To je smesno,vse sam prebral kaj si pisal od zacetka do danes.Enkrat si zapisal da je drustvo tvoj drugi dom,to ti ja verjamem,druatvo za gluhe osebe je izjemnega pomena.V drustvu se srecajo gluhi priatelji,zdruzuje vas vas jezik, saj dobro ves kaj mislim.Macek in Gornjec ce bi imeli malo pameti in morale nigdar ne bi prisli v Drustvo gluhih v Murski Soboti.Naj si formirajo drustvo naglusnih ali naj se vasj naucio znakovnega jezika gluhih.
RobertH samo ti pisi kaj mislis.Ce te bojo dali na sodisc Macek in Gornjec jaz ti bom prica na sodiscu.Predlagam ti da gres v drustvo svojom prijateljem,pusti Gornjeca in Macka naj umrejo bedasti.Ce ti bojo kaj nagajali prijavi jih policiji.
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Nihče ne bo šel na sodišče, tudi če bi ga res obsodili. Morda še niste slišali za sodne zaostanke. Zaradi sodnih zaostankov zadeva zastara, še preden pride do glavne obravnave...
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Vidim, da nima pomena zgubljati časa in besed z nekaterimi.
Plitkost in plehkost. Elementary school nivo, al pa še manj.
Eni pač ne doumejo poante oz bistva posta.
In res ne bi razlagal na nivoju vrtca.

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Metka Knez , univ. dipl. soc. del.
Metka Knez