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Intro • What is Down Syndrome?


The Fundacion Asistencial para Personas con Sindrome de Down A.C. promotes the well-being of people with Down syndrome both in their own family as well as in their community by increasing personal development opportunities.

"Her name is Maria Joao Silva, and she has Down Syndrome. Maria Joao has become a world champion athlete. She competed at the World Championship for people with Down syndrome which took place on Puerto Vallarta, Mexico.

Maria Joao is a member of Santa Casa da Madalena do Pico and was a team member of the National Association of Sports for the Intellectually Disabled. Representing the Azores, she won the championship. Maria Joao won the 400m Walk-Trisomy 21, with a time of 3:22:46 and 1,500 m Walk - Trisomy 21 with a time of 13:34:50 (world record), thus obtaining two World Championship titles."


This is just one example of how important your donation dollars are to the lives of our citizens here in Puerto Vallarta that are living daily in the families touched with Down Syndrome.

Our Programs include: Advice to families, Early Stimulation and Physical Therapy, Communication Therapy, Emotions Workgroup, Dance and Confectionery.

As a civil association, the foundation subsists on the support of the population. These donations allow us to continue our mission and continue supporting these little childrens to improve themselves day by day. The donations are destined for the purchase of working materials of, maintenance of the facilities and the creation of new projects.

To make a donation, visit our Donations Page.

You can help improve the quality of life for our citizens of Puerto Vallarta affected by Down Syndrome.

Down Syndrome - Causes, Symptoms and Diagnosis


Down Syndrome, also known as Trisomy 21, is a genetic problem caused by an abnormality of chromosome 21 (a chromosome is a part of the gene), wherein the Chromosome 21 is present in triplicate. Normally, one chromosome comes from each parent. In the case of Down’s Syndrome, the extra chromosome may come from either parent, although more frequently, its from the mother. This extra chromosome causes some abnormalities.

It was described in 1866 by John Langdon Down, a British physician. The chances of a child getting Down syndrome are 1:733.

Causes of Down Syndrome:

The advanced age of the mother is an important consideration. As the woman’s ovarian follicles (they unite with male sperm to form an egg) are present at the time of birth through the reproductive years, they are exposed for a longer time to environmental influences and ageing. This may cause Down syndrome.

Signs and Symptoms of Down Syndrome:

•  The most disturbing finding is mental retardation or intellectual disability. The average IQ of a child with Down’s syndrome is around 50 as compared to the IQ of 100 in a normal child. The mental qualities are described as unisexual, playful and affectionate.

•  Stunted growth is also universally seen.

•  Characteristic facial features are seen.

• Eyes are almond shaped with an upward slant. Nose is small with a flat, nasal bridge. Mouth and teeth are small while tongue appears protruding. Ears are small. There is a characteristic facial grimace on crying. Chin is small and the face is unusually round.

• The skull is small. The muscles lack tone (hypotonia) and joints are extra flexible.

•  Hands are short and broad. There is a single transverse crease on the palm (instead of a double crease). A wide space is seen between the big and second toes.

•  Constipation and reflux disease is present.

•  Congenital heart disease is the major killer in children. They mostly need corrective surgery soon after birth.

•  Thyroid problems, commonly hypothyroidism are noted.

•  Recurrent ear infections, if neglected, lead to hearing loss. Inner ear malformations also may be a contributing factor.

•  Other major problems are epilepsy (seizures) , obstructive sleep apnoea (OSA) and leukemias (cancer of blood).

•  Eye problems are common, requiring glasses and cataracts. Congenital cataract and glaucoma may be present.

•  Infertility is noted in both sexes.

Investigations and Diagnosis of Down Syndrome:

•  Many prenatal screening tests can detect this condition. Genetic testing and counselling must be offered to couples who have the risk of a baby being born with Down. During pregnancy, chorionic villus sampling (seeing the inner lining of a pregnant uterus) and amniocentesis (withdrawing amniotic fluid around foetus and examining) point towards Down syndrome.

•  A Complete Blood Count test can identify leukaemia.

•  A growth chart should be maintained by the paediatrician to check growth patterns. Any medical problem like OSA or ear infection need prompt attention.

•  Involvement of the family is a must. They must be educated on mental and physical limitations of the child and maintain a conducive and supportive environment.

•  Speech therapy is important to promote language skills.

•  Cognitive therapy is useful to enhance mental functioning.

Prognosis of Down Syndrome:

•  Many people with Down’s now live to adulthood and need occupational therapy to be independent and earn a living. In adults from 40-50 years, dementia is a notable symptom. The general life expectancy remains at 25 years.

Written by Nisreen Nakhoda, General Physician









Last updated: February 29, 2020 · Charity ID: 402

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Contact Down Vallarta

DownVallarta.com
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322-224-9577
Contact: Guadalupe Márquez
Tordo No. 158
Las Aralias
Puerto Vallarta, Jalisco 48320

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