Down syndrome

21:55 - 4 May , 2021

Disease

What is Down syndrome?

It is a genetic anomaly caused by a dysfunction in the cell division process, in which chromosome number 21 is duplicated, whose effects are the physical and mental disabilities typical of this syndrome, as well as its affectation to the individual's development.  Down syndrome is one of the most common genetic disorders and the disability it produces varies depending on the person, but it also causes heart and gastrointestinal diseases.  

Symptoms

There is a defined physiognomy of people with this syndrome, which includes:
  • Short height.
  • Palpebral fissure.
  • Very small ears.
  • Flat face and small head.
  • Short neck.
  • Big tongue.
  • Lack of muscle mass.
  • Small hands and feet. 
  • Brushfield spots, which are white spots in the iris. 
People with Down syndrome have cognitive damage that can range from mild to intermediate, although in all cases there is a delay in intellectual abilities, mainly in memory and language. Potential risks: The risk of a baby being born with Down syndrome increases for the following reasons:
  • Genetic predisposition to transmit the characteristic chromosomal abnormality. 
  • History of a child with Down syndrome. 
  • Mother over 36 years old. 
Health complications caused by Down syndrome are multiple and usually appear with age, the most frequent being:
  • Obesity. 
  • Spinal deformation. 
  • Leukemia.
  • Dementia. 
  • Congenital heart disease or subsequent heart problems. 
  • Intestinal alterations. 
  • Immune abnormalities that can lead to the development of various pathologies.
  • Obstructive sleep apnea.
Continuous medical follow-up and timely care of complications help people with Down syndrome have a good quality of life and their life expectancy can be long, even beyond 60 years. 

Diagnosis and treatment

It is recommended that pregnant women of any age undergo screening tests for Down syndrome, with them it is possible to know the chances of the baby being born with this anomaly.   Also, diagnostic tests on the baby are required to identify if they have this condition.  A personalized and multidisciplinary treatment makes all the difference in your child's quality of life since it will consider their individual requirements and their development process in the different stages of their life.  It is important to have a multidisciplinary team of specialists who can solve the problems that arise and help your child to develop physically and intellectually in the best possible way.  In general, it is recommended to form a team of professionals in the following areas:
  • Pediatrician
  • Speech and occupational therapist.
  • Physiotherapist.
  • Ophthalmologist.
  • Audiologist.
  • Cardiologist. 
  • Gastroenterologist. 
  • Neurologist. 
  • ENT doctor.
  • Endocrinologist. 
At the Pediatrics Center we provide specialized care to our small patients from birth to adulthood, through our pediatric, oncology, neurology, and cardiology services at the level of the best medical centers in the world.

Fuentes:

  • sindromedown.net
  • medlineplus.gov
  • mayoclinic.org
  • msdmanuals.com
  • healthline.com
  • cigna.com
  • cun.es
  • medigraphic.com
  • Flores-Arizmendi KA, Vargas-Robledo TT, Eguiarte-Díaz G, et al. Seguimiento médico de los niños con síndrome de Down. Acta Pediatr Mex. 2021;42(3):142-148.
  • Díaz-Véliz Jiménez PA, Vidal HB, González SI, et al. Diagnóstico prenatal de atresia duodenal en feto con Síndrome Down. A propósito de un caso. Medisur. 2020;18(2):272-278.
  • Ait idir K. Mala absorción de glucosa y de galactosa y su asociación con el síndrome de Down. Rev Cubana Pediatr. 2020;92(3):1-8.
  • Díaz-Hernández DJ, Torres-Gómez IP, Arango-Martínez AM, et al. Aspectos genómicos, transcriptómicos y del diagnóstico en el síndrome de Down. Medicina & Laboratorio. 2020;24(1):37-56.
The dissemination of the content of this material is for informational purposes only and does not replace, under any circumstance or condition, a consultation with a specialist doctor, for which the ABC Medical Center is not responsible for the different use that may be given to it. If you require more information related to the subject, we suggest you contact the specialist doctor you trust directly.