Misconception: People Who Have Down Syndrome Dont Feel Pain
Reality: People with Down syndrome absolutely feel pain. Reaction to pain is not always apparent for example, a 2000 study published in the medical journal, Lancet, suggests that such individuals express pain more slowly and less precisely than the rest of us. Parents and guardians need to be firm with the medical community and insist that people with Down syndrome be given the same types of pain-control procedures as a typical person, even in the absence of obvious signs of pain.
What Services Are Available For People With Intellectual Disability
For babies and toddlers, early intervention programs are available. A team of professionals works with parents to write an Individualized Family Service Plan, or IFSP. This document outlines the childs specific needs and what services will help the child thrive. Early intervention may include speech therapy, occupational therapy, physical therapy, family counseling, training with special assistive devices, or nutrition services.
School-age children with intellectual disabilities are eligible for special education for free through the public school system. This is mandated by the Individuals With Disabilities Education Act . Parents and educators work together to create an Individualized Education Program, or IEP, which outlines the childs needs and the services the child will receive at school. The point of special education is to make adaptations, accommodations, and modifications that allow a child with an intellectual disability to succeed in the classroom.
Down Syndrome Misconceptions Vs Reality
There are many misconceptions about people with Down syndrome. These misconceptions are largely a result of two contributing factors: the syndrome itself has changed so fundamentally with the dismantling of the inhumane institutions where people with Down syndrome were previously forced to live, and
the lack of medical and basic scientific research makes it difficult to get accurate, updated information about people with Down syndrome.
The Global Down Syndrome Foundation is dedicated to correcting misconceptions and over time providing funding for research that will better address medical and cognitive issues associated with the condition.
What Causes Down Syndrome
Down syndrome is caused by a random error in cell division that results in the presence of an extra copy of chromosome 21.
Usually, when one cell divides in two, all pairs of chromosomes are split so that one of the pair goes to one cell, and the other goes to the other cell. But in rare cases, both chromosomes from a pair go together into one cell.
Most of the time, the error occurs at random during the formation of an egg or sperm. No action by parents or environmental factor is known to cause Down syndrome.
After much research on these cell division errors, researchers know that:
- In more than 90 percent of cases, the extra copy of chromosome 21 comes from the mother in the egg.
- In about 4 percent of cases, the father provides the extra copy of chromosome 21 through the sperm.
- In the remaining cases, the error occurs after fertilization, as the embryo grows.
Researchers also know some, but not all, of the risk factors for Down syndrome. For example, parents who have a child with Down syndrome or another chromosomal disorder, or who have a chromosomal disorder themselves, are more likely to have a child with Down syndrome.
In addition, the likelihood that an egg will contain an extra copy of chromosome 21 increases significantly as a woman ages. Therefore, older women are much more likely than younger women to give birth to an infant with Down syndrome.
Still, about 60 percent of babies with Down syndrome are born to women under age 35.
Does Down Syndrome Run In Families
All 3 types of Down syndrome are genetic conditions , but only 1% of all cases of Down syndrome have a hereditary component . Heredity is not a factor in trisomy 21 and mosaicism. However, in one-third of cases of Down syndrome resulting from translocation there is a hereditary component accounting for about 1% of all cases of Down syndrome.
The age of the mother does not seem to be linked to the risk of translocation. Most cases are sporadic chance events. However, in about one-third of cases, one parent is a carrier of a translocated chromosome.
What Is the Likelihood of Having a Second Child with Down Syndrome?
Once a woman has given birth to a baby with trisomy 21 or translocation, it is estimated that her chances of having another baby with trisomy 21 is 1 in 100 up until age 40.
The risk of recurrence of translocation is about 3% if the father is the carrier and 10-15% if the mother is the carrier. Genetic counseling can determine the origin of translocation.
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Rare Variants Large Effects
The simplest cases of identifying specific genetic causes of variation in human phenotypes come from case studies of disorders observed in a medical context. Many severe medical disorders result from a single region being altered or deleted, resulting in massive downstream impacts on a broad range of outcome phenotypes. These mutations may be so large as to be readily identified in the number or shape of the chromosomes under a microscope, without even the need to go so far as to specifically interrogate the underlying genotype. For example, trisomy 21 , which results in Down syndrome , or Fragile X syndrome is relatively easy to diagnose both genetically and phenotypically: both Down syndrome and Fragile X syndrome lead to characteristic changes in morphology, as well as substantial deficits in cognitive function. Many cases of genetic disorders initially present as a cluster of extreme, pervasive phenotypic abnormalities, which are subsequently attributed to identify rare alterations within the patients genome. When similar patterns of symptoms are observed across cases, which share the same genetic alteration, we conclude that the disease is caused by the mutation. However, this does not mean that the causal pathway is simple, or unitary, or deterministic.
Magda Mostafa, in, 2020
Dge Library Construction And Tag
Three DGE libraries were constructed from pooled RNA samples of patients IQ+ and IQ, and healthy controls. The libraries were constructed with Illumina’s DGE Tag Profiling kit according to the manufacturer’s protocol , using 5g of total RNA . Sequencing analysis and base calling were performed using the Illumina Pipeline, and sequence tags were obtained after purity filtering. Data from each DGE library were analyzed with BIOTAG software for tag detection, tag counting and for assessing DGE library quality. Raw and treated data are available on .
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What Research Is Being Conducting On Down Syndrome
The March of Dimes is investigating why errors in chromosome division occur, in the hope of someday preventing Down syndrome and other birth defects caused by abnormalities in the number or structure of chromosomes. Other researchers are seeking to improve the outlook for children with Down syndrome. One example of this includes developing improved language intervention programs to help these children communicate more easily.
Ch 4 Part : Down Syndrome & Intellectual Disability
The first sections of Chapter 5 addressed the very basics of what Down syndrome is and why it is called what it is. The next sections will cover the common factors associated with Down syndrome, beginning with intellectual disability.
The common association most people have with hearing the term Down syndrome relates to faces, hearts, and minds of those with the condition. Because the effect on the mind is the one most focused on by clinicians and expectant parents considering whether to continue a pregnancy, that will be addressed in this section, with the physical aspects of the condition addressed in the following section.
Idiocy, mental retardation, intellectual and developmental disability. Those are the three formal classifications for the mental effect of Down syndrome: that those with the condition experience a range, generally, of mild to moderate intellectual disability, with severe being an outlier. But what does intellectual disability or retardation mean for the person living the life with the condition?
And, indeed, mere blobs is how those with Down syndrome were treated for most of the 20th Century. The routine advice new parents received was to have their child institutionalized, go home, and act as though the child never was born.
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Misconception: People With Down Syndrome Cant Read Or Write
Reality: The majority of children with Down syndrome can learn to read and write. Research shows that teaching reading to children with disabilities, including those with Down syndrome, is most effective when teachers are well trained, have high expectations of their students, and students progress is formally evaluated. More research is needed to determine how to most effectively teach children with Down syndrome to read and write.
Misconception: People Who Have Down Syndrome Die Young
Reality: The average life expectancy for a person with Down syndrome is nearly 60 years old. Some people with Down syndrome have lived into their 80s. It is true that people with Down syndrome on average dont live as long as their typical counterparts. Unfortunately, the average life expectancy for an African-American in the U.S. with Down syndrome is just 35 years old. This appalling statistic deserves the full attention of our government and scientific community.
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Limitations In More Than One Area
Adaptive behavior, or adaptive functioning, refers to the skills needed to live independently . To assess adaptive behavior, professionals compare the functional abilities of a child to those of other children of similar age. To measure adaptive behavior, professionals use structured interviews, with which they systematically elicit information about persons’ functioning in the community from people who know them well. There are many adaptive behavior scales, and accurate assessment of the quality of someone’s adaptive behavior requires clinical judgment as well. Certain skills are important to adaptive behavior, such as:
- Daily living skills, such as getting dressed, using the bathroom, and feeding oneself
- Communication skills, such as understanding what is said and being able to answer
- Social skills with peers, family members, spouses, adults, and others
Other specific skills can be critical to an individual’s inclusion in the community and to develop appropriate social behaviors, as for example being aware of the different social expectations linked to the principal lifespan stages . The results of a Swiss study suggest that the performance of adults with ID in recognizing different lifespan stages is related to specific cognitive abilities and to the type of material used to test this performance.
Down Syndrome And Delayed Development
Babies with Down syndrome reach the same developmental milestones as all babies, but with some degree of delay. Speech and language development is often the area of greatest delay. Everyone with Down syndrome will experience some delay in their development and some level of learning disability, but the extent and specific areas of delay vary from one person to another. People with Down syndrome generally need more support than most other people in order to achieve their potential some will need very little support, while others may require a high level of support. However, most people growing up with Down syndrome today will be able to achieve and participate as valued members of their communities.
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Symptoms Of Intellectual Disability In Children
Some symptoms of intellectual disability can be seen on physical appearance. For example, Children with Down syndrome have differences in their facial features and people with Down syndrome look very similar to each other. Such physical differences may indicate an intellectual disability.
Yet, one of the strongest signs is that the children being left behind by their peers. Of course, this is nothing like comparing their skills but comparing the basic functions. For example, One of the most important signs is language development for kids. Children who have difficulties learning syllables, words, and talking may be showing signs of intellectual disability.
Likewise, difficulties in acquiring basic skills are among the indicators of intellectual disability. Of course, if there is not any other problem.
The mental levels of children can be determined with the intelligence tests and there are various reliable tests to determine the intelligence level such as Stanford-Binet Test and Wechsler IQ Test.
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What Does A Child With Down Syndrome Look Like
A child with Down syndrome may have eyes that slant upward and small ears that may fold over slightly at the top. Their mouth may be small, making the tongue appear large. Their nose also may be small, with a flattened nasal bridge. Some babies with Down syndrome have short necks and small hands with short fingers. Rather than having three ‘creases’ in the palm of the hand, a child with Down syndrome usually has one single crease that goes straight across the palm, and a second crease that curves down by the thumb. The child or adult with Down syndrome is often short and has unusual looseness of the joints. Most children with Down syndrome will have some, but not all, of these features.
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Early Intervention For Children With Down Syndrome
Early intervention is the best way to support your childs development. Early intervention includes therapies, education and other supports that will help your child reach their full potential. It should also include helping you learn how to spend time with your child in ways that support their development.
You and your child will probably work with many health and other professionals as part of your childs early intervention. These professionals might include paediatricians, physiotherapists, occupational therapists, speech pathologists, special education teachers and psychologists.
Its good to see yourself as working in partnership with your childs professionals. When you combine your deep knowledge of your child with the professionals expertise, youre more likely to get the best outcomes for your child.
Common Features Of Down Syndrome
Children with Down syndrome share physical features with other children with Down syndrome, but they also look like their family members.
All children with Down syndrome have some intellectual disability. It can range from quite mild to more severe. It means some delay in development and some learning difficulties.
People with Down syndrome might also have a range of medical and health conditions, so its important to have your childs health checked regularly by health professionals.
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Distinction From Other Disabilities
Clinically, intellectual disability is a subtype of cognitive deficit or disabilities affecting intellectual abilities, which is a broader concept and includes intellectual deficits that are too mild to properly qualify as intellectual disability, or too specific , or acquired later in life through acquired brain injuries or neurodegenerative diseases like dementia. Cognitive deficits may appear at any age. Developmental disability is any disability that is due to problems with growth and development. This term encompasses many congenital medical conditions that have no mental or intellectual components, although it, too, is sometimes used as a euphemism for intellectual disability.
Genetic Causes Of Intellectual Disabilities: Down Syndrome
Genetic Causes of Intellectual Disabilities
Many intellectual disabilities are caused by genetic abnormalities. The two most common genetic causes of intellectual disabilities are Down syndrome and Fragile X syndrome.
Down syndrome is the most common genetic origin of intellectual disabilities . Down syndrome occurs in 1 out of every 800 births. Down syndrome derives its name from John Langdon Down. He was the one who first pinpointed the disorder. The condition caused by an extra chromosome. An error in cell division during prenatal growth results in an extra third chromosome 21. The extra chromosome is called Trisomy 21.
Down syndrome has a unique pattern of symptoms. These symptoms lead to the identification intellectual disabilities. The total brain volume is generally smaller than average. The shape of the brain is also different.
Doctors quickly recognize the physical features of Down syndrome at birth. The child’s eyes usually have an upward slant. They are also white spots on the iris called Brush field spots. The child’s ears have an unusual shape. The neck is shorter than usual. The shape of the face is full. The profile of the face tends to be flat. The palm of the hand may have a profound crease running crossways. A person who has Down syndrome may not have all of these physical features. Moreover, these traits are also found in children without the disorder. Therefore, physical features alone are insufficient for diagnosis.
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Looking After Yourself And Your Family
Being told that your unborn or new baby has Down syndrome can be a big shock for you and your family and friends. If you need information and support, a good place to start is Down Syndrome Australia, which has branches in all states and territories.
And although its easy to get caught up in looking after your child, its important to look after your own wellbeing too. If you take care of yourself, youll be better able to care for your child. Talking to other parents can be a great way to get support for yourself. You can connect with other parents in similar situations by joining a face-to-face or an online support group.
If you have other children, these siblings of children with disability need to feel that theyre just as important to you that you care about them and what theyre going through. Its important to talk with them, spend time with them, and find the right support for them too.