Down Syndrome - Trisomy 21

2023 Author: Wallace Forman | [email protected]. Last modified: 2023-08-25 11:04

Down syndrom

In Down syndrome there is a deviation in the genetic material (number of chromosomes). One speaks of a numerical chromosomal abnormality or chromosomal aberration. In Down syndrome, chromosome 21 is affected. One cause of Down syndrome is trisomy 21. Chromosome 21 is present three times instead of two times in every body cell. However, there are other reasons such as mosaicism / mosaic 21 trisomy or translocation / partial trisomy. However, these are very rare. The deviation in the genetic material arises from faulty cell division of the egg cell (meiosis). Down syndrome is not a disease in the strict sense of the word, but it is associated with physical and mental impairments. However, some diseases can occur more frequentlyin any case, it is associated with developmental peculiarities and health restrictions.

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• Development & health restrictions
• diagnosis
• therapy
• Info & addresses
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Development & health restrictions

Some special features characterize the development of children, for example:

• Usually slower and retarded growth after birth, development delayed
• Mostly grown smaller
• Tendency to overweight / obesity (after puberty)
• The mental (mental) impairment varies greatly - from very mild to severe
• Memory, learning, and attention are impaired

Typical external signs of Down syndrome do not show up individually, but in combination. These include:

• Round face, mostly slightly sloping upward-pointing eyes, small nose
• Short or round head with a flattened back of the head
• Short neck
• High, narrow, pointed palate; big tongue
• Broad hands with short fingers, often four-finger furrows over the entire palm

Typical health problems, limitations and illnesses can occur more frequently:

• Congenital heart defects (50%)
• Disorders / problems relating to the digestive tract (atresia, constipation, celiac disease, gallstones)
• Visual disturbances (e.g. amblyopia)
• Hearing impairment (hearing loss)
• Malformations of the kidneys and lower urinary tract
• Disorder of thyroid function (hypothyroidism)
• Immune system (e.g. infections of the respiratory tract and ears)
• Leukemia (<1%)
• Problems in the muscular and skeletal system (hypermobile joints, hypotonic muscles, loose connective tissue), orthopedic problems
• Autoimmune diseases (e.g. type I diabetes, juvenile idiopathic arthritis)
• Early onset memory disorder
• Teeth and mouth (periodontal diseases)
• Sleep apnea syndrome (50-75%)

There are also mental and behavioral disorders, autistic symptoms, depression, and anxiety.

diagnosis

In most cases, the diagnosis can be made shortly after birth. There may be a suspicion beforehand. Information on prenatal diagnostics (e.g. neck fold measurement, amniocentesis) can be found at

• Prenatal diagnosis: non-invasive examinations
• Prenatal Diagnostics: Invasive Examinations
• Special prenatal diagnosis

Certain physical characteristics provide clear indications after birth and make the diagnosis clinically probable. This may then be confirmed by analyzing the chromosomes. If Down syndrome is confirmed, further examinations are required to clarify whether and which health problems, disorders and diseases are present. A pediatric cardiological examination is carried out to determine any congenital heart defects. This takes place in the first week. Heart defects and possibly malformations of the intestine can be treated relatively well by means of operations. The life expectancy of people with Down syndrome is now 60 years.

therapy

Depending on the individual health situation, regular checks are necessary, for example ophthalmological examinations, dental hygiene, examination of hearing problems, thyroid values, pediatric cardiological checks after operated heart defects.

Targeted medical therapy is often required for life; Likewise, most patients need support to cope with everyday problems.

In addition to early diagnosis and correct and targeted medical therapy, early intervention plays an essential role:

• Language promotion (speech therapy)
• Promotion of motor skills (physiotherapy and occupational therapy)
• Psychosocial support

Info & addresses

The Social Ministry Service and its regional offices are the central contact point for people with disabilities. They provide information and advice on ways of securing livelihoods, integration and rehabilitation and provide financial support for this.

You can find information on the following websites

• Ministry of Social Affairs (on work and disability)
• Parent education from the Ministry of Family Affairs (family and disability)
• www.help.gv.at (kindergarten, school, education, work, rehabilitation, social insurance, etc.)

Help and support offer among other things

• Centers of expertise. You can find this at the Rudolfstiftung's Down Syndrome Outpatient Clinic (including information on the Down Syndrome Pass) and on the website www.orpha.net.
• Support groups. You can find this under Services.

More information about

• Disability pass
• Medical aids & aids

Whom can I ask?

Contact persons for health problems with Down syndrome are generally a pediatrician and later a family doctor. Doctors from various disciplines are involved in diagnosis and therapy, e.g.

• Internal Medicine
• Orthopedics
• Ophthalmology
• Oral, dentistry and jaw medicine
• Neurology, neurosurgery
• Ear, nose and throat medicine

Other health professions are also involved, for example:

• Speech therapists
• Physiotherapists
• Dental assistants (prophylaxis assistant)

You can find experts and addresses via

• Doctor search
• Finding health care providers

More information about rehab & cure.