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Utilizing Genetic Testing Among Children

Utilization of genetic testing among children with developmental disabilities in the United States

17 March 2016/ Volume 2016:9/ Pages 93—100 Kiely B, Vettam S, Adesman A

Part I:

Introduction

Due to the rise of development disabilities among children in the United States it has come to the attention of the
medical practitioners have taken upon themselves to put up some studies. According to some statistics it has been
defined that between 1%-2% of U.S children are specifically affected by autism spectrum disorders (ASDs). Some
of the symptoms of ASDs are the inability to communicate effectively, poor social interaction, combined by some
abnormal stereotyped characteristics. Although it has taken diverse interest in the research world, some have been
able to lighten up the causes of these disorders

Methods

The methods used are diverse pathways survey that include follow up through telephone –based survey that indulge
parents and guardians of children once diagnosed by developmental disabilities who are of ages 6 years to 17 years.
The pathway survey was basically to find out what the relationship of genetic testing was and how a child is affected
by demographic factors.

Sample

The research done was based on a re-contact based on 6090 randomly chosen respondents among 7572 eligible
cases. Respondents who responded positively that their children were diagnosed with ASD, ID and DD were
included in the pathway survey to determine the efficiency of the research done between2009-2010. On the other
hand children who had been earlier in life been diagnosed with development disability but do not show any more
signs were excluded from the sample.

Results

The survey showed that parents did not take their children for early checkups on development disabilities. It was
seen that less than 31.7% of the children that were included in the sample, with an addition of 33.6% with ASD and
43.3 diagnosed with ID had never undergone genetic testing.

Analysis

It was analyzed that some children that showed signs of certain condition groups were more likely to have gone
through genetic testing than others. For example those diagnosed with combed ID showed a statistic of 52.1% while
those without ID or DD showed a statistics of 17.2%

Discussion
It has been concluded by some health based organization like AAP, American Academy of Neurology and ACMG
that it is recommended for every child in the U.S to undergo genetic testing in order for the medical practitioners to
be able to tackle it firsthand

Section II

As the discussion part has pointed out it is of importance for every child in the U.S to undergo genetic testing for
children with development disability. The statement is clearly supported by major medical organizations like AAP,
American of Neurology and ACMG. In my case my sister was diagnosed earlier on in her life with Down syndrome
that is caused by an error in cell division that is called non-disjunction. It was upon mother realizing that the child
was not developing as we did and she could only sit when she turned 11 months. Through the genetic testing that
occurred early the whole family became supportive enough and understood what Abigail was going through and it
was our responsibility to be of guidance and helpful.

Sever educational programs should be introduced to the health care system that enables screening to be done from
prenatal care in order for parents to be aware of their status and what they are caring in their wombs. By so doing
most of the ignorant people will be diversely helped and incase of a child being born with development disabilities
the parent will be aware of how to handle the matter. In the case of my sister Abigail all was well until my parents
saw that she was taking too long before she could sit and then crawl. It was not as in our case where by me and my
two brothers developed in the normal phases. That is why she decided to seek medical help thinking that maybe
Abigail could turn out to be lame. It was diverstating to her but she was able to gain courage and confront the
medical facilities for help

Although we found out that Abigail was suffering from Down syndrome there is no cure for it but she would live
with it since she was shown much love. All that could be done is control external diseases that are likely to affect
someone suffering from the illness. In addition to that through the early interventions that were made she has been
able to prepare herself for the future and be a play an active role in the family and society. In the case of the study
done it has been clarified that most women take for granted the genetic test. To others it does not exist and thus they
are not aware of it thus cannot understand the importance of it. Thus it most important for medical centers to ensure
that women are taught about Development disability and what its etiology is to avoid them.

It is unlikely for a parent to face the fact that they might be the cause of the condition that a child is born with, but
all in all not all have the capability of knowing how to handle the situation. It has been clarified that older women
are more likely to give birth to children with Down syndrome and that was the case with my mother. Although it is a
fact technology has emerged and one can be able to access health care for screening unfortunately not all women
take note of that fact and then end up with children that are born with genetic caused illnesses. The relevant thing is
enabling women in the U.S to take considerable care of their children by considering genetic testing. Although it has
been reported that there is a possibility of medical practitioners not to be using the recommended genetic tests for
children with more emphasis it will be done effective.
 References

Kiely, B., Vettam, S. and Adesman, A. (2016). Utilization of genetic testing among children with developmental
disabilities in the United States. The Application of Clinical Genetics, Volume 9, pp.93-100.