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Despre Sindromul Down


Down syndrome – facts



What is Down's syndrome?

Down's syndrome is a genetic condition caused by the presence of an extra chromosome in the baby's cells. Chromosomes are tiny particles, which are present in every cell in every tissue of our bodies. Most people have 2 copies of all chromosomes, but people with Down's syndrome have three copies of chromosome 21, hence the medical name 'trisomy 21'. 


The name Down syndrome does not refer to someone who is unhappy or inferior, is named for the English physician credited with first describing it. In 1866, he distinguished Down syndrome from other conditions by noting some of the common features associated with it such as straight thin hair, a small nose, and a broad face.


Later, in 1959, Jerome Lejune, a French geneticist, discovered the additional chromosome and its location. These findings led to the discovery of the other forms of Down syndrome.

There are three types of

Down’s syndrome:

Trisomy 21 – in which all the cells have an extra chromosome 21. About 94% of people with Down’s syndrome will have this type.(appendix 1)

Translocation – in which extra chromosome 21 material is attached to another chromosome. Around 4% of people with Down’s syndrome have this type.(appendix 2)

Mosaic – in which only some of the cells have an extra chromosome 21. About 2% of people with Down’s syndrome have this type.


Please note that Down syndrome is not a disease, not a hereditary condition and could not be transmitted by physical contact. It occurs by chance at conception. Therefore people with Down’s syndrome do not “suffer”, nor are they “victims” of their condition. Down’s syndrome is only a part of the person; they should not be referred to as “a Down’s”. People with Down’s syndrome are all unique individuals and should be acknowledged as a person first and foremost. It is important to think of the person first, e.g. John is 29 and has Down’s syndrome.


What causes Down’s syndrome?

As yet we do not know what causes the presence of an extra chromosome 21. It can come from either the mother or the father. There is no way of predicting whether a person is more or less likely to make an egg or sperm with 24 chromosomes. There is a definite link with advanced maternal age for reasons yet unknown. However most babies with Down’s syndrome are born to women under the age of 35, as younger women have higher fertility rates. What we do know is that no one is to blame. Nothing done before or during pregnancy can cause Down’s syndrome. It occurs in all races, social classes and in all countries throughout the world. It can happen to anyone.



What is the incidence of Down’s syndrome?

For every 700 babies born, one will have Down’s syndrome.

It is estimated that there are around 30.000 people with Down’s syndrome living in Romania today, although the real number could be much higher taking into account that many are not yet registered. Also it is known that over 1.000.000 people have a disability and 900.000 of those are children.


How is a person with Down syndrome?

Everyone with Down's syndrome is different and every family is different. After all, just like the rest of us, from a total of 23 pairs of chromosomes – people with Down syndrome inherit 23 from their mother and 23 they inherit from their father. 

People with Down's syndrome are individuals first and foremost. It is important not to fall into the trap of labelling all symptoms of people with Down's syndrome as "just the Down's syndrome". Everyone with Down’s syndrome will have some degree of learning disability. Certain physical characteristics are common among people with Down’s syndrome, and they can be more prone to certain medical problems. However, the most important thing to remember is that everyone with Down’s syndrome is an individual, with their own strengths and weaknesses and personality traits that make them who they are.


Medical issues

Although babies with Down syndrome can be just as healthy as any other children, they can also have special medical problems. 


Certain medical problems are more common in people with Down’s syndrome.

These include:

• 40-50% of babies with Down’s syndrome are born with heart

problems, half of which require heart surgery

• A significant number of people with Down’s syndrome will have hearing and sight problems

• Thyroid disorder

• Poor immune system

• Respiratory problems, coughs and colds

• Obstructed gastrointestinal tract.

However, with advances and increased access to medical care most of these problems are treatable. The Down’s Syndrome Association together with the Down’s Syndrome Medical Interest

Group have produced health care guidelines to assist families and health professionals to set up screening programmes so that health problems can be picked up early on and treated before they become more serious. None of these problems are unique to

people with Down’s syndrome, they also appear in the rest of the population. It is also important to remember that some people with Down’s syndrome do not experience any health problems.


How does Down’s syndrome affect development?

All people with Down’s syndrome will have some degree of learning disability. Children with Down’s syndrome do learn to walk, talk and be toilet trained but in general will meet these developmental milestones later than their ordinary peers. Early intervention programmes which are now widespread for children with learning disabilities help in all areas of child development. These programmes can include speech and physical therapy as well as home teaching programmes for the child and family.

Children and adults with Down’s syndrome can and do continue to learn throughout their lives just like the rest of the population.

With good medical care and the right levels of support, people with Down’s syndrome can and do make friends, go to school and college, find and keep a job, and make decisions about their lives and futures.


Down’s syndrome – Child development

This table (appendix 3) gives an outline of the usual development of children with Down’s syndrome. Just as with all children there is a great deal of individual variation in the age at which the different skills develop. In the table we show the usual range for some milestones. A few children will have additional health problems

which may slow their development. However all will continue to develop at their own pace.2-23m 917

Dry by day 18-50m 14-36m

Bowel control 20-60m 16-48m

The past and the future for people with Down’s syndrome


In other countries around ’70-ties, in Romania not before ’89, people with learning disabilities were kept in institutions known as ‘long stay hospitals’, classified as “ineducable”. Parents were made to feel ashamed of their children with learning disabilities and were routinely told “Put him away and forget him”. After ’89 the institutions were closed and people were returned to their families. Some bad attitudes towards people with learning disabilities are still found today as the remains of hostile government policies. 


Put a stop to discrimination!

Not until recently legislation was introduced to ensure that people with learning disabilities had the right to receive services and support within their own communities. This included the right to attend their local mainstream school. Now when the legal support exists, there are still flagrant discriminations regarding the application of the law in real life, due to the fact that many families are not fully informed of their children rights and the governmental institutions does not follow the law and not encourage rightfully informing the population. So today there are still many cases of child abandon proposals that comes even from the medical stuff, cases of rejecting the child’s right to a proper education within the mainstream state kindergartens and schools, parents being pressured towards special program schools, that does not function properly as they are design and does not help children with Down syndrome improve oneself, but only encourage learning bad behaviors and even decreases the existing knowledge. So the purpose of real integration of people with disabilities is rarely met in our society today.


Inclusion not exclusion

It is hoped that services will continue to improve for people with Down’s syndrome and that our society will become fully inclusive, embracing diversity rather than condemning many people with Down’s syndrome and their families to a life of social exclusion.

The families should address the NGOs in their area that are providing information, counselling, support and advocacy for people with Down’s syndrome, their families/carers and the professionals who work with them. That respects the rights of people with Down’s syndrome to help ensure they have the support and opportunities they need to live lives of their own choosing.

Children who need more help than other children are described by education services as having special educational needs, or SEN (in Romanian CES). Arrangements for children with special educational needs are designed to support as many as possible in their local playgroups, nurseries and schools. Inclusion is about providing children with what they need to thrive in ordinary schools and about changing ‘the mainstream’ by removing some of the barriers that prevent children with special educational needs from participating.




Extra help for babies and toddlers

Your child may need extra help from very early on. Different local authorities organize their services in different ways, so you need to find out how things are set up in your area. Specialist services that help young children and their families can be provided by local health services and local authority education and social care services. Other services are sometimes run by private or voluntary organisations (charities).

Services helping very young children and their families with early education and learning work alongside paediatricians, occupational therapists, speech and language therapists, who provide medical treatment and therapy.

Although Down syndrome cannot be cured (is not a disease, but a diagnosis), there are therapies that have good results if they are carried out from an early age and done continually: sports (esp swimming), animal therapies (with trained dolphins, horses and dogs).



Tests offered in early pregnancy


The combined test uses the results of a blood test and an ultrasound scan to calculate the risk (chance) of the unborn baby having Down’s syndrome. A blood sample taken from the mother between 10 to 14 weeks of pregnancy and the ultrasound scan is carried out between 11 to 14 weeks of pregnancy. This scan measures the amount of fluid lying under the skin at the back of the baby’s neck. This is called the nuchal translucency (NT) measurement. A computer program then uses the results from the blood sample combined with the NT measurement to work out a risk (chance) figure. In addition to the results from the blood sample and the NT measurement, the program also uses the mother’s age, weight, weeks of pregnancy, family origin and smoking details to work out this risk (chance) figure.


Chorionic villus sampling (CVS)

CVS is a test carried out during pregnancy that involves removing a small piece of tissue from the placenta. It is usually done between weeks 11 and 13. It is usually only offered in a specialist centre. The test itself takes around 10 minutes. You will then have an ultrasound scan to check the position of your baby. The sonographer or doctor will keep scanning you throughout the procedure. A tiny sample of tissue is then removed from your placenta. Your placenta will usually contain tissue that is genetically identical to your baby. The sample is analysed in the laboratory and the baby’s chromosomes are counted. Very occasionally (about two in 100) CVS samples do not produce a result.



Amniocentesis is a test carried out during pregnancy which involves using a fine needle to remove a small amount of the amniotic fluid around the unborn baby. It is a widely used procedure (not in Romania thou) which usually takes about 10 minutes.

Amniocentesis can be done later in pregnancy, at about 19 weeks. The sonographer or doctor will keep scanning you throughout the procedure.  This fluid contains cells from the baby, which will be examined at the laboratory and the baby’s chromosomes counted. About one in every 100 samples does not produce a result because the cells do not grow or the results are

not clear. If this happens, you will be offered a second amniocentesis.


Fact or fiction?

Children with Down’s syndrome are only born to older parents.


80% of children with Down’s syndrome are born to women younger than 35. However, the likelihood of having a child with Down’s syndrome does increase with the age of the mother.

Fact or fiction?

People with Down’s syndrome are always happy.


People with Down’s syndrome have the same feelings and moods as everyone else.

Fact or Fiction?

People with Down’s syndrome cannot form relationships.


People with Down’s syndrome are perfectly capable of forming all types of relationships with people they encounter in their lives, be it friendship, love or a dislike of someone.

Fact or Fiction?

People with Down's syndrome can go to mainstream school.


Most children with Down's syndrome now attend mainstream school and many go on to secondary and further education.

Fact or Fiction?

Men and women with Down’s syndrome can have children.


Women with Down’s syndrome can and have had children.

It has been recorded that two men with Down’s syndrome have been fathers. The information about fertility in people with Down’s syndrome is very outdated and based on research in institutions where men and women with learning disabilities were kept apart.


A message to you all

Please try to be informed more about this condition because what you hear around you made be outdated 

Help the children by getting more involved in voluntary activities

Please take the first step by giving the booklet attached to a person you know/heard that has a baby with Down syndrome and let them know there they are not alone

You should know there are ups about Down syndrome, too: they are more sensitive towards arts than the rest of us; there are painters, piano and violin players with this disability; they participate in all areas of sports’ they are the best best friend you can have, that can never disappoint of forget about you; they can and want to work and be seen like everyone else, when given the chance.




Babies with Down syndrome- a new parents’ guide edited by Karen Stray-Gundersen; 2nd edition and “Felicitari, aveti un bebelus” booklet  


For further information



Sindromul Down (trisomie21) reprezintă o afecțiune cromozomială (o afecțiune din naștere, care este prezentă la copil încă din momentul conceperii) cauzată de prezența unui cromozom 21 suplimentar. Cromozomii sunt structuri microscopice prezente in fiecare celulă din fiecare țesut al organismului. Ei poartă planul tuturor caracteristicilor pe care le moștenim. Acest plan este purtat sub forma un mesaj codat prezent într-o substanță chimică denumită ADN. La om, sunt 23 de perechi de cromozomi în fiecare celula, 46 în total. Un set de 23 de cromozomi se moștenește de la tată iar celălalt set de 23 de la mamă.

În 1959, geneticianul  de origine franceză, profesorul  Jerome Lejeune, a descoperit că sindromul Down era cauzat de prezența unui cromozom 21 în plus, rezultând astfel un număr total de 47 de cromozomi în loc de 46.


Un „Sindrom” reprezintă o suită de semne și caracteristici. Denumirea „Down” provine de la medicul englez, John Langdon Haydon Down, primul care a descris acest sindrom în anul 1866, cu aproximativ 100 de ani înainte ca acest cromozom suplimentar să fie descoperit. În fiecare zi, în Regatul Unit al Marii Britanii se nasc între unul și doi copii cu sindrom Down, ceea ce înseamnă că un copil dintr-o mie suferă de acestă afecțiune. În Romania nu există o statistică, dar având în vedere faptul că la nivel mondial incidența este de aproximativ 1-800 nașteri, se poate estima că sunt în jur de 30.000 de persoane cu trisomie 21.

Toate persoanele cu Sindrom Down prezintă un anumit grad de dificultate de învățare . Gradul de dizabilitate diferă de la o persoană la alta și este imposibil de apreciat în momentul nașterii cât de grav va fi.



De obicei sindromul Down este diagnosticat clinic în perioada neonatală sau la sugar, datorită dismorfiilor evocatoare care, deși variază la diferiți pacienți, realizează un aspect fenotipic caracteristic (1). Nou-născutul cu trisomie 21 are talia și greutatea sub limita normală corespunzatoare vârstei,hipotonie musculara, hiperextensibilitatea articulara   și reflex Moro redus sau absent,  reflexul rotulian este slab. Nou-născutul prezintă craniul mic și rotund (brahiecefalic), cu occiput aplatizat și fontanele largi care se vor închide cu întârziere. Fața este rotundă, profilul facial este plat datorită hipoplaziei oaselor proprii ale nasului, iar fruntea este bombată. Fantele palpebrale sunt orientate oblic, în sus și înafară. Aproximativ jumătate dintre pacienți prezintă epicantus . Toți nou-născuții cu sindrom Down trebuie examinați de către un specialist pentru depistarea cataractei congenitale și a altor anomalii oculare (strabism convergent , blefarite,nistagmus, opacufierea cristalinului ) (2). Irisul poate avea un aspect pătat (petele Brushfield ). Aceste pete Brushfield sunt mici, albicioase,rotunde sau neregulate și se dispun ca o coroană la joncțiunea treimii mijlocii cu treimea externă a irisului.Urechile sunt mai jos inserate, mici, rotunde și displazice. Helixul are un aspect rulat, iar antehelixul este proeminent (3). Conductul auditiv  este mic, iar hipoacuzia  și surditatea poate afecta 50% din pacienți cu sindrom Down, la orice vârstă (4). Gura este mică, deschisă, cu protruzie linguala . Limba este mare, brăzdată de șanturi (limba plicaturata , scrotală).Bolta platina este inaltă și îngustă. Gâtul este scurt, gros, cu exces de piele pe ceafă. Mâinile sunt scurte si late cu deget V ce poate prezenta branhidactilie sau clinodactilie (încurbare) și cu un singur pliu de flexie palmară (pliu simian). Spațiul interdigital I de la picior este mult mai larg comparativ cu normalul. Toracele poate fi în pâlnie, cu mameloane aplatizate și cifoză dorso-lombară. Aproximativ 40-50% dintre copiii cu sindrom Down prezintă malformatii congenitale cardiovasculare. Dintre acești copii 30-40% pot prezenta defect septal atrioventricular  complet (5,6). O altă malformație congenitală cardiovasculară care poate sa apară este reprezentată de canalul atrioventricular comun. Pot fi prezente și anomalii digestive ca de exemplu atrezie duodenală, hernie ombilicala, și pancreas inelar. Pacienții cu sindrom Down prezintă retard mental care poate varia de la mediu la sever.Coeficientul de inteligenta poate să scadă după primii ani de viață.