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With early intervention, many children attend mainstream schools and learn the needed skills to live independently as adults. Life expectancy for those with Down syndrome has increased markedly ...
People with Down syndrome experience a wide range of emotions. [52] While people with Down syndrome are generally happy, [53] symptoms of depression and anxiety may develop in early adulthood. [9] Children and adults with Down syndrome are at increased risk of epileptic seizures, which occur in 5–10% of children and up to 50% of adults. [9]
Developmental disability is a diverse group of chronic conditions, comprising mental or physical impairments that arise before adulthood. Developmental disabilities cause individuals living with them many difficulties in certain areas of life, especially in "language, mobility, learning, self-help, and independent living". [1]
Kleefstra syndrome affects males and females equally and approximately 75% of all documented cases are caused by Eu-HMTase1 disruptions while only 25% are caused by 9q34.3 deletions. [3] There are no statistics on the effect the disease has on life expectancy due to the lack of information available. [3]
Based on symptoms and X-rays, confirmed by genetic testing [4] Differential diagnosis: Mandibuloacral dysplasia, pyknodysostosis, osteogenesis imperfecta, Hajdu-Cheney syndrome [5] Treatment: Supportive care [5] Prognosis: Normal life expectancy [3] Frequency: One per million people [1]
For Ashley Zambelli, a surprise diagnosis allowed her to have an even more special bond with her children.. The Michigan-based mom, 23, recently found out she has Mosaic Down syndrome, a condition ...
Down syndrome does not define Molly or our family. Down syndrome has been a part of our life for the past 14 years and perhaps our life is a little different than the path we expected, but we ...
An anaphase lag of a chromosome 21 in a Down syndrome embryo leads to a fraction of euploid cells (2n cells), phenomenon described as "aneuploidy rescue". There is considerable variability in the fraction of cells with trisomy 21, both as a whole and tissue-by-tissue. This is the cause of 1–2% of the observed Down syndromes. [4]