Psychologist says that being a victim of this syndrome have various negative impact on the child. As most of parent’s attention goes to oldest and youngest siblings so
About one in every 33 babies in the United States is born with a birth defect. A birth defect, according to Kids Health, part of the Nemours Foundation’s Center for Children’s Health Media, is defined as abnormalities of structure, function, or body metabolism that are present at birth. It’s said that birth defects are one of the leading causes of infant death in the first year of life. Birth defects can range from mild to severe. MedlinePlus, The National Institute of Health’s website says that babies with birth defects may need to have surgery or other medical treatments. With as many birth defects there are in the world, many are still left unknown as to why they are still occurring. Birth defects can develop through substance abuse, infections in
Most people avoid thinking of the idea of having one of their future children born with a genetic disorder. But this is not a realistic thought. A study made by the National Down Syndrome Society (2014) found out that about one in every seven hundred babies in the United States is born with Down syndrome, a chromosomal disorder caused by an error during the cell division. This results in an extra copy of the chromosome 21 which alters the brain and body development. People with Down syndrome are born with intellectual disability, some characteristic facial features and cognitive delays. It has been demonstrated that the possibility of a child being born with Down syndrome increases as the age of the mother increases, and clearly women have delayed their maternity especially
When a disorder runs in the family, the parents want to know the chances of their offspring having the disorder (GHR). This can be difficult to predict in some cases because many factors influence a person’s development of their genetic condition. It is a random mutation that occurs in the chromosome pairs before birth. Gene mutations Gene mutations can vary from different disorders which may have expanded
It is s a chromosomal condition associated with severe intellectual disability and physical abnormalities in many parts of the body. This case was interesting because it really showed the significant impact of parenting and access of care. I was involved in a case that could be easily addressed and managed if the parents were agreed about the treatment of their baby, since they had pervious baby with the same condition Trisomy 13 and he died at age 2months.
In 1866, John Langdon Down, a British physician, identified a group of people whose symptoms were very similar. These were: eyes that were upwardly slanting, a flattened back of the head, and fissured and poorly controlled tongues. The term “mongolism” was coined to describe these people with Down’s Syndrome. In 1959, Jerome Lejeune identified the disorder as a chromosomal condition. He saw that those with the condition had 47 chromosomes in their cells instead of the normal 46.
I observed a four year old girl that was tiny for her age. She worked on proprioceptive and vestibular input like the other children. One major difference is that her condition has not been diagnosed. The doctor suspect a chromosome issue, but her family has not gone for additional testing. Although she can recognize shapes, colors, and letters, she is still delayed.
In the males, muscle mass increases, they are prone to ligament tears, uncalcified bones until after puberty and the cardiovascular pump is not efficient as in adults. I think that B is not meeting the developmental norms because of his delayed motor skills from Marfan syndrome. Additional diagnosis of Marfan syndrome is scoliosis, making him unable to participate in sports due to the sideways curvature that affects his balance and coordination. B. was also diagnosed with a heart murmur that limited his ability to participate in sport activities when compared to other children his age. 5.
Trisomy 18, or Edwards Syndrome, was discovered by a man named John Hilton Edwards in 1960, and is a condition that causes severe developmental delays because of an extra chromosome 18. Edwards was a professor of genetics at Birmingham and Oxford, he first saw Trisomy 18 in stillborn and abnormal babies. Trisomy 18 is the second most common trisomy after Trisomy 21. Trisomy 18 is not inherited, but completely random, it is caused by an error in cell division known as meiotic disjunction. The following essay will go over the signs, symptoms, mutation, and how to make the child with Trisomy 18’s everyday life as normal as possible.
The film briefly examines different services that are available for the families. However, the film demonstrated that the most precious resource is the role of parents and caregivers to believe in their child and never limit their abilities. Down syndrome has specific characteristics that are unique to this exceptionality. The most shared features associated with Down syndrome that were evident in the children in this film include; Flat facial features, with a small nose, Upward slant to the eyes, Small skin folds on the inner corner of the eyes and an Enlarged tongue. My major is Communication Disorders
A child with Down syndrome ranges from when they were born to about 12 years old. They tend to develop at a slower rate in comparison to the typical developing child. Physical needs include sitting alone from up to 6 – 30 months, crawling at 8-22 months and standing from either 1 up to 3 ½ years. Physically their gross motor skills and fine motor skills are delayed in development which is why it is important to see a physiotherapist from the 1st or 2nd month after birth right up until they can ride a tricycle.