- •Introduction
- •What are the chromosome basics of Down syndrome?
- •How do the extra genes lead to Down syndrome?
- •What are the risk factors for conceiving a child with Down syndrome?
- •What are the characteristic features and symptoms of Down syndrome?
- •What type of prenatal screening is available for Down syndrome?
- •How is the diagnosis of Down syndrome made?
- •What about cognitive impairment in Down syndrome?
- •How is Down syndrome managed?
How is Down syndrome managed?
Although the genetic cause of Down syndrome is known, there is currently no cure. Due to advances in technology, scientists are slowly beginning to understand which genes when present in three copies are responsible for which Down syndrome characteristics, but it will take many years to fully grasp the complex interplay between the different genes. Much research to date is focused on understanding the causes of impaired cognition in Down syndrome and on finding potential therapies that might improve learning. Most of these studies are carried out using animal models of Down syndrome, but some human clinical trials involving potential therapies are also being conducted.
Corrective surgery for heart defects, gastrointestinal irregularities, and other health issues is necessary for some individuals. Regular health checkups should be scheduled to screen for other conditions such as visual impairments, ear infections, hearing loss, hypothyroidism, obesity, and other medical conditions.
Individuals with Down syndrome should be fully included in family and community life.
What about early intervention and education for Down syndrome?
It is very important to stimulate, encourage, and educate children with Down syndrome from infancy. Programs for young children with special needs are offered in many communities. Early intervention programs, including physical therapy, occupational therapy, and speech therapy can be very helpful.
What are the needs of infants and preschool children with Down syndrome?
Like all children, children with Down syndrome greatly benefit from being able to learn and explore in a safe and supportive environment. Being included in family, community, and preschool life will help a child with Down syndrome develop to his or her full potential.
While social development and social learning are often quite good, development in other areas such as motor skills, speech, and language are usually delayed. Many children with Down syndrome eventually reach most developmental milestones, but mild to severe learning difficulties will persist throughout life.
In general, children with Down syndrome are more prone to illnesses, and vision and hearing impairments, which can contribute to the child's learning difficulties. Regular health checkups are very important. Some children may have more severe developmental delays. This could be due to coexisting medical or psychiatric conditions such as seizures, autism, or ADHD.
How do adolescents with Down syndrome develop?
Adolescents with Down syndrome undergo the same hormonal changes during pubertyas typically developing children. Girls with Down syndrome have regular menstrual periods and should receive instructions on hygiene. Although women with Down syndrome are not very fertile, they can become pregnant. Men with Down syndrome have low sperm count, but in some cases have fathered children. Proper education regarding sexual development and contraception is very important.
What should one expect for adults with Down syndrome?
Individuals with Down syndrome live longer than ever before. Due to full inclusion in society, many adults with Down syndrome now live semi-independently, enjoy relationships, work, and contribute to their community.
Adults with Down syndrome also age faster than average. The older they become, the higher the risk of developing hypothyroidism, late-onset seizures (tonic-clonic seizures in particular), memory loss, and dementia. By age 40, many individuals with Down syndrome will show signs of dementia and early-onset Alzheimer's disease. By age 60, 50% to 70% of adults will develop Alzheimer's disease. Why individuals with Down syndrome age prematurely and why they develop Alzheimer's disease is not entirely clear. At least one gene (the amyloid precursor protein) on chromosome 21 is thought to be involved in Alzheimer's disease. Since individuals with Down syndrome have three copies of this gene, it is likely that this gene contributes to the increased occurrence of Alzheimer's disease in this population.
Detecting dementia and early signs of Alzheimer's disease is a challenge in individuals with Down syndrome who are often already cognitively impaired. It is important for caregivers and doctors to be aware of changes in skills necessary for independence.
Do individuals with Down syndrome work?
While some individuals with Down syndrome find suitable paid employment, many others are volunteers, or hold no job. Individuals with Down syndrome who wish to work should receive adequate training and support. This is not always readily available in all communities at present. In addition, employers should be made more aware of the benefits of employing someone with Down syndrome.
Where can I find clinical trials for Down syndrome?
Down Syndrome Clinical Trials
Down Syndrome At A Glance
Down syndrome is a genetic disorder and the most common cause of cognitive impairment.
Individuals with Down syndrome have characteristic physical features that are widely recognized.
Down syndrome is associated with heart defects, gastrointestinal conditions, and other health issues.
Individuals with Down syndrome are at a high risk for developing dementia and early-onset Alzheimer's disease.
The only well known risk factor for conceiving a child with Down syndrome is advanced maternal age.
Screening for and diagnosis of Down syndrome is possible before birth.
Due to improved medical treatment and social inclusion, the average life span of an individual with Down syndrome is now more than 55 years.
Individuals with Down syndrome often live very healthy and productive lives.
New Safety, New Concerns In Tests for Down Syndrome |
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References Olga Abramova, N. Lazarev Epidemiology of congenital malformations / / Actual problems of pediatrics: compendium XI Congress of Pediatricians of Russia. - M., 2007. - C. 7. Andreev, LP, NP Kuleshov, Mutovin GR and other hereditary and congenital diseases: disease burden in children and disability prevention approaches / / Pediatrics. Journal them. GN Speranski - 2007. - T 86, № 3. - S. 8-14. Vaharlovsky VG Kashcheeva TK, Baranov VS The risk of Down syndrome in the fetus, depending on the age of the mother / / Modern problems of formation of human health in the perinatal period and infancy: Sat. work / ed. NP Shabalov. - St., 2004. - S. 52-54.
Vdovin TR, Elena Ivanova, Mardanov AK etc. The analysis of prenatal diagnosis of congenital malformations and chromosomal abnormalities in the Republic of Bashkortostan for 1999-2000. / / Health Bashkortostan. - 2000. - № 5. - S. 32-33. Gagarin EV Evdokimenko VN Spiridonov IN, Miroshnikova IV Automated prenatal diagnosis of Down syndrome in the fetus in the first trimester of pregnancy / / Biomedical technologies and electronics. - 2005. - № 9. - S. 27. Kashcheeva TK, Yuri Nikolaev, Kuznetsova TV, Baranov VS The risk of having a child with Down syndrome in the case study maternal blood in the first and second trimester of pregnancy / / Modern medical technology / ed. AB Maslennikov. - Novosibirsk: Alpha-H Vista, 2008. - Vyp.12. - S. 170-178. Kryukov, NI, Ahmadullina MK, AK Mardanov Prenatal diagnosis: problems and ways for further development / / Health and Social Development of Bashkortostan. - 2008. - Spec. release. - P.160-163. Snyders R.Dzh.M., Nicolaides KH Ultrasound markers of fetal chromosomal defects. - Moscow: Vidar, 1997. - 192 p. Kascheeva T.K. Prenatal biochemical screening in Saint-Petersburg / / Prenat. Diagn. - 2008. - Vol. 28. - R. 1-60. Zolotukhina T.V., Miroshnikova I.V. The preminary results of combined screening for trisomy 21 in first trimester / / Medizinische genetic. - 2004. - Vol 6, № 1. - P. 98-99.
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