Consciousness and Conduct Chromosome 2 children 0-12 years, from a

hermeneutical analysis.

Case Study

Indhira Carolina Aveledo

Sociologist at the Central University of Venezuela with Diploma in

Governance and Political Management and Master Distance Education in the
National Open University of Venezuela, with line of inquiry from the academic
training in health and education process for 13 years with 12 years of
experience in Educational Planning in Vocational Training at the National
Training Institute Socialist.

Summary

The development of the inquiry relates to characterize a rare disease related to

Chromosome 2 specifically from the consciousness and behavior of children of 0-
12 years of related segments 2q.11.2,2q.24.2 chromosome, which, by the
hermeneutical analysis of parents of children who are registered (456 parents) on
the social network Facebook, of which 34 parents present near the segments
referenced in the study children where six parents linked to the segments studied
are kept in contact from 2012-2015 which concludes that consciousness and
behavior of these children is characterized by a social consciousness where the
limits and rules are not accepted and unsuitability of the same, all for executives
problems or delay cognitive that is related to brain immaturity, which in many cases
to relevant linguistic problems are linked, so its absence demonstrates the difficulty
of abstracting from the abstract social construct leading to a hostile behavior,
disruptive and maladaptive well as, oppositional to the social environment. This
analysis is a preliminary to establishing the construction of a human development
plan and respond to cases of "unique" or infrequent which describes and rare
diseases, genetic and epigenetic conceptualizes health.

Keywords: Rare Diseases, genetic, epigenetic, chromosome 2

Introduction
Currently, rare diseases are few common diseases and affect 7 million people
in the world where most are of genetic origin.
In Venezuela affecting 500,000 people where mayoral not have a designation
or a name to his illness which many people spend 5 to 10 years to establish a
diagnosis because they are unique and very infrequently cases where the delay
and so often the absence of diagnosis, makes difficult the appropriate therapeutic
treatment which gives rise to commitments of various types, reduced mobility or
disabilities with a high prevalence in children generating a high mortality rate, the
shortage of drugs to counteract the suffering and the great costs of these diseases
circumstances where two out of every 3 rare diseases appear in the first 2 years of
life, which in early childhood is a rare disease recurring 75% being highly disabling
one.
It is of great importance and concern, the few policies in this area to give
answer to questions necessary as humanly is important to give response to a
single case as to cases already established, thereby solving and characterize
cases "unique" to determine the characteristics and where in the particular
consequences begins to determine some aspects of consciousness and behavior
Chromosome inv. 2q.11.2, 2q.24.2.

Rare Diseases. Concept causes and consequences in Early Childhood

Training by professional medical assistance to a child and family with a rare

disease (ER), especially if it is a malformed child is necessary. The impact of these
patients for life, requires continuous monitoring of the child, focusing both on the
evolutionary aspects of the same as in the adaptation of the family to the problem.
In addition to a sad, harsh and uncertain reality, parents often must make
immediate decisions and must present much temperance, for about taking the
whole process of medical or surgical treatment for your child, or face a lethal or
incapacitating condition they "steal" their expectations and that often is inevitable.

Only adequate care and therapy consonant to the need of these children
generate multiple solutions to problems that these children and their families face,
help minimize the potential handicap associated with ER.

Despite the undoubted complexity involved in deepening in this field, all

professionals who manage infants and especially pediatricians, be made to the
knowledge of these diseases in order to substantiate their involvement in the
diagnosis and monitoring of patients.

Abstention that often happens because of ignorance or lack adequate

mechanisms, negative impact on the care of these patients 3.

The ER as a concept, can be synthesized in a few common diseases which

have been referred on disease morbidity and premature mortality, as they present
a high degree of disability and dependence in a lot of cases, and therefore a
deterioration of quality of life of the sufferer.

Rare diseases (RD) are a health and social interest. A low incidence show
variability in the frequency observed including these, diseases associated with its
severe, chronic appearing at early ages of life today and also affect adult 4.

The ER is defined in the US began in the mid-80s and always closely linked
with the concept of orphan drugs which, both concepts are developed to respond
to the low incidence diseases.

The first of December 1999 the first Community action plan on rare common
diseases including where whose prevalence figure of Rare Diseases lacuna 5
about 10,000 in the European Community and USA performs an overall number of
cases is used 5. From these designations is that the ER is conceptualized,
however, conceptualization cannot be established from a statistical number, since
for some countries may happen that a problem metabolic type is an ER to African
natives but for the West not. In this regard, it will depend on the impact of existing
diseases in the regions or cities to determine whether or not a rare disease.

This term is an "umbrella" concept since shim to various diseases with

pathologies that have various edges or features, which are mostly genetic and can
then.

However, several countries including the UK, Denmark and Sweden use
other definitions of prevalence but was established in 2007 in a public consultation
on rare diseases in the European Commission, which should prevail the term that
the European Community established as ended.

Genetics and Epigenetic

In principle, genetics is the branch of biology that seeks to understand

biological inheritance.

Responsible for phenotypic diversity of human beings is DNA. Heredity is

surprising and unimaginable especially the tiny size that establish or material
having the genetic legacy.

To respond as biological characters for inheritance is transmitted, we must

observe the cells as these are the key inheritance from father to son, because
when they divide themselves give accurate to individuals. Gregor Mendel was an
Austrian who was the first who investigated the genetics by exploring pea plants
and by many experiments, Mendel conclude that biological characters are
transmitted separately mediates physical units called genes and with the invention
of the microscope the process of cell division contemplate. 6.

The process of cell division in the core strands are concentrated

chromosomes and are two groups which are divided and separated, which is
formed with two cells each with characteristic chromosome. Chromosome is
formed by 2 meters coiled DNA molecules. Wilks, Crick and Watson were the ones
who unraveled the structure of DNA in the 50s.

Chromosomes are composed of DNA and this in turn in units called

nucleotides each nucleotide and this consists of a sugar, a phosphate and a base
which, there are 4 types of the base, as cytosine, guanine, adenine , and thymine
are. Phosphates and sugar form the backbone of the DNA chain and has double
elice structure where ridges are joined by base in a certain way and the two chains
are screwed together with each other to form the double spiral elice or

DNA contains the information for making proteins, which are crucial organic
compounds for life, for their synthesis is necessary that the DNA molecule made
almost identical to itself called AR copy, this molecule leaves the cell nucleus reads
instructions for making proteins in some places called ribosome’s. The importance
of this process often determines the permanence that living beings remain alive
through chemical reactions such as enzymes, skin, nails, hair, l until the
hemoglobin of the blood and sinew and frame bone consists of proteins. This
process is one of the functions of DNA as well, the other function is part of the
transmisición from parents to children is the genetic information duplicates to exact
copy of itself. Each molecule of DNA makes an exact copy of itself and thus the
number of chromosomes in each cell is bent and when the chromosome is
duplicated cell division is done and new cells already have the information for
operation and transmits characters from generation to generation in June.

In human reproduction, each individual has a full number of 46

chromosomes 23 of the female egg and the male sperm 23 chromosomes and two
sex contains information such as XX in females and XY in men.

Species have evolved and developed, but it is important to know how

mutations are alterations in the genetic code, usually the body repairs them but in
some cases the alteration is maintained and then a mutation occurs. Most
mutations generate abnormalities where often the body does not survive, but some
of the changes are useful, where these changes are transmitted and it is from there
that the evolution of living beings 7 explains.

However, changes can be influenced from the outside of the individual

which has enabled this evolution or involution, so currently geneticists, have
argued that we are not only what the DNA determines us or make us or heritage of
our cells but we are the set of situations that we live where chemical modifications
added to the DNA, generates the activation or deactivation of genes where
depending on what we eat, we do and how we live that epigenetic process occurs
which is this process . 8.

When referring Epigenetic, this term was emphasized by Waddington in

1939 and As quoted by Bedregal and others defined epigenetic as "the study of all
the events that lead to the development of the genetic program of development" or
complex "development process that mediates between genotype and phenotype . "9

Before lifting epigenetic, gene-environment linkage was described under the

approach of a "genetic relativity".

Among many concepts, epigenetic and genetic determinism, has its

ancestors in the concepts of epigenesist that began to develop in the eighteenth
and nineteenth centuries 7. Then he stood the idea of development as the
phenotype was defined almost exclusively by genes.

It is in the twentieth century where genetics was considered the "knowledge

of the succession" and "embryogenesis of progress." In that sense, I try to show
that both disciplines were closely linked together where development generated
explanation of phenotype and genotype.

In more recent years, specifically in recent decades has been recognized as

the role of the environment influences the extra nuclear process, social and extra
cellular, which implies that the influence of genes in the environment 10 is
recognized, implying genes that are flexible and dynamic

The relationship of environment and genetics as a different perspective in

medical science in human development, can explain us that their relationship can
generate many explanations about health and disease emergence.

chromosome 2

Chromosome 2 is the second most grades chromosome of the human

genome, said chromosome "crosses 243 million base pairs and make up around
8% of the total DNA present within our cells." Low pairs are the building blocks of
DNA and tight stack, and great spiral wound to form the structure of the DNA helix
11
albums blocks.

As one of the largest chromosome, chromosome 2 contains 1490 genes was

determined several important diseases and conditions and are coupled gene
abnormalities on chromosome 2, circumscribing diabetes, hypertension and
autism. Changes that generate abnormalities can also cause health conditions
such as 12:

 S í Myelodysplastic ndrome
 AML
  hepatoblastoma,
 blastoma pleuropulmonar,
 Nasofar carcinoma í NGEO.

 microcephaly
 Intelectual delay
 sea muscle tone or Hypotonic
 Autism

These are some of the interpreted abnormality establishing certain designations

for various segment but being the largest chromosome, some of the chromosome
fragments have not been decrypted, making certain areas are not determined or
characterized generated difficulties to determine the consequences.

In this regard, an inquiry into the characterization of a chromosomal

inversion of chromosome 2 is developed, specifically 2q.11.2-2q.24.2 to determine
its possible consequences, in order to establish therapeutic mechanisms and
human development plans to improve quality of life the case is investigated at
times.

Discourse analysis of parents in the Facebook Social Network. Disorders

Chromosome 2

Rare in the world, diseases have established mechanisms to generate

support under enigmas meet the diagnostic process, affecting the quality of life of
patients who are in this situation.

In this sense, these mechanisms began to set in the 80s by telephone and
via letters or emails area, the whole process of exchange of information of parents
with children presenting uncharacterized genetic pathologies communications.

Later in the advancement of technology, the Internet has generated a

revolutionary and valuable mechanism as a tool to increase knowledge and
mechanism for transmitting information to the health of parents and patients. In low
- prevalence diseases, web portals and portals that arise from "the area of scientific
societies, patients and institutions." 13 they are generated.

From this mechanism, it arose from the need to analyze the hermeneutical
methodology, the parent speech portal Facebook: www.facebook.com .

The main reason of hermeneutical discourse analysis of parents is based on

the study of a case of a 6 - year-old having chromosomal problems of
Chromosome 2 Investment specifically genetic scientifically characterized 2q.11.2 -
2q.24.2.

Description Case Study inv.2q.11.2 awareness and behavior, 2q24.2

 In the specific case of a child who is currently 6 years old named Ra *

RA, at the age of 8 months was observed by their behavior, behavior and
physical development, considering evaluate it from the physical and psychic,
concluding that presented Generalized hypotonia and gene duplication of
chromosome 2,

* RA is abbreviated for privacy reasons

specifically the segment 12.1 where for several deeper inquiry was concluded that
it was not a duplication but an investment of chromosome 2 but segments framed
the 11.2 and 24.2 implying that is not scientifically characterized turning up to the
present time a single case, and that no other child with equal cromosopatia
currently generating in some cases, difficulties in the therapeutic processes
regarding the most appropriate to generate a human development with quality of
life therapy.

Ra. between the ages of 12 to 21 months no way, where various physical

therapies got their hypotonia was declining, making his first steps at 22 months
however, their behavior is perceived difficult to manage, which did not utter any
words later during the 24 months to 36 months advance their cognitive always
resulted in estimated 1 year 1 year and a half words pronounced differences were
not only 5 to 36 months.

However, under evident that the problem of hypotonia prevailed until 42

months where walking but showed strength and balance, after this age, ie up to 4
years, I achieved a breakthrough in the speech of 5 words 30 allowing progress in
the language where it stopped and assessments where finding a moderate hearing
loss , which compares with acoustic assessments when presented 13 months and
found that there was something similar but for being immature their auditory
development was decided to wait its development were made, but under the
expressive difficulties where his understanding progressed rapidly, generating a
distant gap in its expression to his understanding, it was decided to investigate
more in depth the genetic origins of parents which found that despite not
presenting any cromosopatia equal to that of his son, he emitted the case became
case Novo or unique to the present time.

Discourse analysis of parents with children of chromosome 2 of the 2q.11.2

segments, 2q.24.2

Under the case study, it was determined an analysis of the speeches of

parents who had children with chromosome 2 which the only remedy to establish
such an analysis, portal Facebook www.facebook.com the portal, until the day June
24, 2015 had registered 453 cases, which was located by a record having the
page, which locates, by segment of chromosome, type cromosopatia and place of
residence by continent, country and city.
 In this register the following was found: Children with chromosome 2 by
doubling up the date the information was consulted, 59 children, 150 deletion, 1
child microdeletion and 1 case as Investment deletion were found, which Ra ., it
continues placing as a unique case although cases located deletion, duplication or
microelección, was selected which will be within the segment 2q. 11.2-2q.24.2
which were taken into account parents talks since 2012-2015, ie from the day the
group is opening up today, encompassing review of 3 - year review of the speech
of parents in Facebook

In the case located within the segments studied, 34 near the segments
where such cases was located by the conversation of parents who reported cases
of children cases, where 20 parents of 34 reguistrado assets were held were found
on the facebook page in social interaction but the 20 parents only 6 of them have
cases of children exactly one segment of chromosome case study, which was
translated dialogues of English to Castilian, to further establish analysis.

To that end such dialogues of these 6 parents for 3 years published in

speeches were made, the conditions that had their children, ie since 2012 when
the page until 2015, where he established himself as a key problem created What
are the characteristics of children 0-12 years presenting the 2q.11.2- 2q.24.2
chromosome according to the speech of parents? What is consciousness and
behavior of these children ?, then the children were chosen had ages of 0-12
years, which, the relevant aspects of speech such pathological features that frame
segments case study highlighted also was used tool: Tagcrowd.http:
//tagcrowd.com/. Following speeches by parents.

1) The case JOSHUA 11 years and his father DA interaction with other parents

Joshua 2q11.2-14.1 duplication age 11 years.

April 11 / 14:18 . Caracas Available at: www.facebook.com [Accessed 24 May 2015]

Hi, I have not posted here for years, but I really would welcome suggestions or advice. My
11 year old son has ASD and 2dup. He's funny, adorable and cuddly. However, it is also
impulsive and unpredictable in their behavior. He is constantly vocalizing (talking or
making vocal noises), and poking and prodding, especially her sister 7 years. We have
tried to read books through our local subsidiary of NAS, and explain that their behavior is
not acceptable, etc, etc, but it is affecting her behavior, and she It reflects their behavior.
Not for a quiet home, and my husband and I are on the verge of our ingenuity. Does anyone
have ideas / solutions / books to read, etc., that can help? Thank you very much.

GIVES responds to KL

Hello KL yes, they can play very well, and it 's lovely to see them, hear them and
encourage us. I also know there 's some sibling rivalry, because I was with my brother, but
you do not do much to start or tenderness, tears of our daughter, that Josue smooth. This
morning, our daughter came crying because Josue tumbo green glass yesterday, and has
again today.

DP responds to DA:

Hello, I have a son of 21 years old with a dup 2q and always also complained of chest
pains. He has been a cardiologist and nothing was found. It 's hard because you can not
fully articulate what they feel. ...

January 20 at 6:20 Caracas Available in: www.facebook.com [Accessed 24 May 2015]

Ta.La. DA says

My son is duplication of chromosome 2 and was born as a "heart baby. '" Several heart
defects who need surgery open, invasive, to survive heart. I would have to have an opinion
from a cardiologist to rule out any heart problems!

January 20 Caracas Available at: www.facebook.com [Accessed 24 May 2015

DA published all:

Hello everyone; I not put here a lot, but I just wanted to update myself with you. My 10
year old boy was diagnosed two years ago with 2 chromosomal duplication while mixed
with Pervasive development with autistic tendencies. Last year, the school wanted it to
be reevaluated by the increasing difficulties he has. Now he has told us that he has Autism
Spectrum Disorder (ADD). It is annoying as this will will not change, but will help in
terms of support in high school. Question: now complains of pain in his upper chest. Had
a heart scan at 8 years old, it was normal. He chest occasionally (like Tarzan), we have told
you to stop doing as this can be the cause of your discomfort is struck. Should we worry?
Thanks so much for listening.

JA responds to DA.

Caracas Available at: www.facebook.com [Accessed 24 May 2015]

David is 2q. Thanks for your opinions.

Public DA

April 24, 2014 . Caracas Available at: www.facebook.com [Accessed 24 May 2015]

Hey, it has been a while without having published something, but I would be very grateful
(receive) some advice. Our son Joshua was diagnosed two years ago and just turned 10
years and has 2q11.2q14.1 dup. He has Autism Spectrum Disorder (ADD), Depressive
Disorder (MDD), sensory problems, processing difficulties and has joints
hypermobility. The trips and walks with support. He is really struggling with
understanding their own feelings / emotions. We work on it every day, worked with
mirrors exercises and role play, but after a year there have been improvements. Is this
related with 2 dup or something else? Anyone else has experienced this? We live on an
island in the UK so any advice would be of great help. Thank you very much.

2) The case Maria 5 years and the interaction of his free father. other parents

2q.24.2 deletion and Investment 2p.21q.32.2 Maria 5 years

October 30, 2014 . Caracas Available at: www.facebook.com [Accessed 24 May 2015]

Mary (2q24.2 of) ready for Halloween dressed as Pebbles in the car Flintstones.

N. Sta frank comments to:.. He has almost 5 months.

Ai. Ka says to Francàs.:

Costume Incredible !!! My son has deletion 2q deletion 24.1-24.3

October 30, 2014 at 21:14 . Caracas Available at: www.facebook.com [Accessed 24 May 2015] ·

Li. Cle. Says to Francàs

My daughter has a duplication of 2q24.1-24.3. It always amazes me how profits are

different from those losses.

August 15, 2014 Caracas Available at: www.facebook.com [Accessed 24 May 2015] ·

Public Francàs

Hello everyone ... My daughter Mary of 4 years (2q24.2deleción) has been battling
stomach pain and severe constipation for many months and have been in the hospital
several times, seen (by) several specialists (in ) Gastrointestinal, here in our area and now
traveled to four hours outside the state to see a specialist physiotherapy. The problem is that
all tests are negative and no signs of trouble. She still takes baby bottles by mouth. You
can not tolerate foods (foods). Does anyone have experience digestive issues with their
kids? Mylee continues gases and swollen. She screams / crying incessantly.

K iK.O., frank answers:

This is what happened with Ev. Fran .. They said (that) their brainwaves cause Ev.
intestinal motility .. has begun total parental nutrition and she's like a different child xxx
S opened . Pell .responde to Free Trade:

My daughter started having problems 5/6 months old. Years of constipation and bloating.
We want to solve the problem with enemas to relieve their discomfort. When he got older,
we find that the best thing that worked was to add bran on your breakfast cereal. She
now has 10 years, but still, occasionally, the problem still occurs. At last I have an
appointment on 20 with the specialist.

August 15, 2014 at 16:21 Caracas Available at: www.facebook.com [Accessed 24 May 2015] ·

. Francàs published:

August 17, 2014 Caracas Available at: www.facebook.com [Accessed 24 May 2015] ·

Does anyone gives digestive enzymes to their children? Or a special / specific diet ?? My
daughter is 4 years old and is still in the infant formula by mouth, but can not tolerate
solid hour after she has eaten. Currently we do gluten / casein - free diet, but she is still
very demanding and full of gas. Search all options.

Francàs continues to publish.

Gastro Intestinal see 2 specialists and specialist physiotherapy. She follows in the formula
and rice cereal is everything you eat. She wants to eat everything and when we eat, she
will cry for hours, curl up in a ball with belly pain. We had ... Continue grav.

August 18, 2014 at 20:55 Caracas Available at: www.facebook.com [Accessed 24 May 2015 ] ·

Re. Ppt. Frank answers.

I remember before we learned that Liam was intolerant to dairy, which gave abdominal
pain you describe, screaming in pain and writhing in pain . Just awful. Our solution was
simple, I hope they can find a solution for Madeleine.

August 18, 2014 at 21:25 Caracas Available at: www.facebook.com [Accessed 24 May 2015]·

Sui answers Francàs

It sounds horrible. I hope you can understand. ¿ Have you tried soy products? I use them
for my 7 years.

19 August 2014 02:19 one Caracas Available at: www.facebook.com [Accessed 24 May 2015 ] ·

Myr tells him free.

December 3, 2012 . Caracas Available at: www.facebook.com [Accessed 24 May 2015]·

Mylee ( 2q24.2 of ) first wheelchair. She is very excited to be mobile Y Independent

3) The Mari case 12 and the interaction of his father NelRed. other parents

2q.24.3 deletion and Investment 2p.21q.32.2 Maria 12 years

November 28, 2012 Caracas Available at: www.facebook.com [Accessed 24 May 2015 ] ·

Hi I'm Ne. The dad Mur., My sweet 10 year old girl with 2q24.2 deletion. I'm trying to
make as much money for UNIQUE as I can. I and 10 cronies are making a crazy cold water
bath in Edinburgh this January 1st . And I'm looking for what the people They are using
ONLY sponsor a cold water bath at River Forth North Sea. So please help to help, if you
can give as little or as much as you can. To give just click on my name and find a link

4) The David case 12 and the interaction of his mother S.Cres. other parents

Daniel deletion 2q.24.3 12 years.

As March 13 as 2015 Caracas Available at: www.facebook.com [Accessed 24 May 2015 ] ·

S. Cres.published

Fantastic!!! For many of us with diagnoses comorbid ASD.

On March 11, Da. Sk. and Will. Man. Presented evidence to support the idea that the tools
available for diagnosing girls with autism show a gender bias . They also shared
interviews with a former patient to provide concrete examples of the ideas discussed.
Sk. is a professor of behavioral science and brain at University College London, Man., his
colleague and frequent collaborator, ...

Web: The enigma of female autism -

We invite you to join us for the next web SFARI on Wednesday , March 11, 12 to 1 pm ET,
with Da. Sk., Professor of behavioral science and brain at the University College of
London, and

S.Cres.publica
26 February 2015 . Caracas Available at: www.facebook.com [Accessed 24 May 2015 ] ·

Fantastic resource for parents of children with special needs in Muscular Dystrophies
Distal DMD, provides public access to complaints state with Resolutions drafted is full !!
gives parents an idea of specific issues of interest in their school districts and how many
and what types of complaints of your school district are receiving for violating the rights
federal of children in special education. I imagine every state has similar access to this
public information. http://marylandpublicschools.org/.../complain.../2015/index.html

Letters Complaint State from Finding - Year Fiscal2015

Letters Complaint State from Finding - Year Fiscal2013 marylandpublicschools.org

5-) The Bertha case of 4 years and the interaction of his mother BaBar. in with other
parents

2q.24.2-2q.24 deletion. Bertha 4 years.

As March 4 as 2015 Caracas Available at: www.facebook.com [Accessed 24 May 2015 ] ·

BarBar published

Bertha (3.5 years, 2q24.2-24.3) has learned to stand up for herself and much practice! It
was a dream last year!

Da.Ho. BarBar answers AWESOME !!

March 4 15:19 one the Caracas Available at: www.facebook.com [Accessed 24 May 2015 ] ·

Sabr.Eli.Pel. responds to BarBa

Let Bertha !!! Bravo!

March 4 16:54 one the Caracas Available at: www.facebook.com [Accessed 24 May 2015 ]

Lor. BarBar answers .

That's awesome !!
Mar. 5 8:32 one the Caracas Available at: www.facebook.com [Accessed 24 May 2015 ] ·

BarBar published

June 9, 2014 Caracas Available at: www.facebook.com [Accessed 24 May 2015 ] ·

Today is the birthday Bertha. 3 years old and today for the first time has sat in the grocery
cart without bending or falling to the side as before, like a normal, happy girl smiling
looking around. He has greatly improved its tone and strength trunk . Every day ago
Physical therapy (PT. Its acronym in English) and hippotherapy or Equinoterapia
they are working. Such a simple thing made my day! Maybe people think I'm crazy!

Joa Dyck. responds to BarBar

Happy Happy Birthday
June 10, 2014 3:21 Caracas Available at: www.facebook.com [Accessed 24 May 2015 ] ·

Rebecca Tripp answered BarBar Happy Birthday Ainhoa. Beautiful girl.

June 10, 2014 06:02 one Caracas Available at: www.facebook.com [Accessed 24 May 2015 ] ·

Kel.O. Barbar answered.

That's amazing girl well done and a Happy Birthday

June 10, 2014 10:24 one Caracas Available at: www.facebook.com [Accessed 24 May 2015 ] ·

B Arbar published
December 8, 2014 Caracas Available at: www.facebook.com [Accessed 24 May 2015]·

My daughter ( 2q24.2-24.3 deletion) of 3 - year-old has sleep problems since birth.

Finally, we have solved the problem with Trazodone (more 3 drops allimemazine before
bedtime ). She is on medication for over 1 makes year but makes some months she has
changed the mood and presented behavior problems Therefore, the neurologist ordered
Electro Give you Encephalogram (its acronym EEG) (found it was fine) and prescribed
Risperidone . She started with a very low dose ( 0.1 mg per morning and noon ) and the two
days that I have made you well ...

6) The Hector case of 4 years and the interaction of his mother Na.Deng. other parents

Deletion 2q.11.2 Hector 4 years

May 11, 2013 Caracas Available at: www.facebook.com [Accessed 24 May 2015 ] ·

Na.Deng. published

I just reread your comments guys have duplication where Hector has a deletion. Hector is
adopted for all I know had significant prenatal medical problems, birth trauma, in addition
to their genetics. We will probably never know where the problem starts, and that does not
really matter. Your nephrologist will not believe your kidney problems are due to deletion,
but we 'd bet on it. He's doing better than expected. ..

Na.Deng. published

August 23, 2013 Caracas Available at: www.facebook.com [Accessed 24 May 2015 ] ·

Hector 2q11.2 may have developed a movement disorder such as Parkinson 's . Last
weekhad an episode of agitation for about 15 minutes. He was taken to the emergency room
at first, the nurse thinks the problem was lack of neurological monitoring, where the
absence of the lack of consciousness and only 15 minutes of tremors is not convinced
whetherwas an attack or not. As much as I do not want my two year old son have
Parkinson 's or anything at all seemed seizure doesseem any normal person?

Ter. Cat, answers Na.Deng .

Seizures can be very different in each individual common factors, and different each
time on how they present themselves , especially in young children , stirred for 15
minutes does not seem to Parkinson, sounds like a kind of seizure, I do not think you can
rule Would you made an Electro (EEG)?

23 August 2013 18:24 one Caracas Available at: www.facebook.com [Accessed 24 May 2015 ] ·

Na.Deng. Responds to Ter. Cat .

He had just had an EEG. Features not thay be a seizure, did not show a change or a marker
in the awareness color 2) maintain 100% continuous awareness to eat and talk .. . They
kept in the emergency room for about 4 hours where he ran around j ...

23 August 2013 18:35 Caracas one Available at: www.facebook.com [Accessed 24 May
2015] ·

A. Mar. Sha answered Na.Deng

My father had Parkinson and buffeted all the time, who first said it was essential
tremors, but as he grew older Parkinson was affected increasingly tremor. I do not know
about it in children.
August 24, 2013 02:56 one Caracas Available at: www.facebook.com [Accessed 24 May
2015] ·

Chri. Cla. He answered Na.Deng

I'm glad it's okay now, though

August 24, 2013 03:02 one Caracas Available at: www.facebook.com [Accessed 24 May 2015] ·

Tere.Cat-Smt responded to Na.Deng .

Ka.Hi.Morg answered Na.Deng

It has a movement disorder undiagnosed, and I think some other children in your area
(2q24.1-0.3) have a similar problem. She never, 'Do not yet- it would find in constant
motion, dizzy, shaking his head, etc. Sometimes you do not notice too much, but other t ...

24 August 2013 10:18 one Caracas Available at: www.facebook.com [Accessed 24 May 2015 ] · ·
Ka.Hi.Morg answered Na.Deng

Was there any change in your routine that day? What about the food? ¿Bowel movements
?

24 August 2013 10:19 one Caracas Available at: www.facebook.com [Accessed 24 May 2015 ] ·

To this end, taking into consideration the clouds of words of all the speeches which
I throw the following (see Table 1):

Table 1

COUNTING WORDS OF SPEECH OF CHILDREN WITH CHROMOSOME

PARENTS 2q.11.2-2q.24.2

PALABRAS CONTEO
T D EA 14
D EL EC I ON 11
C ON D U C T A 7
P R OB L EM A S GA S T R OI N T ES T I N A L 7
I N T ER A C C I ÓN 5
P A R K I N S ON 5
D I ET A 4
D U P L I C A C I ÓN 4
C ON VU L S I ÓN 3
T R A S T OR N O M OT OR 3
P EC H O 3
I N VER S I ÓN 2
M A L ES T A R 2
Fuente: w w w .Tagcrow d.com/w w w .facebook. Caracas, 2015

According to the word count of 6686 belonging to the whole speech, they
discarded 6000 which were analyzed 686 words where 14 repetitions of words
Autism Spectrum Disorder (ASD) representing 20%, followed by deletion as the
type of were evident chromosome more frequent with a frequency of 11 repetitions
of words (16%), behavioral and gastrointestinal problems with seven repetitions of
words (10%), followed by interaction and Parkinson with a frequency of 5
repetitions of words (7%) subsequently diet and duplication with 4 repetitions of
words (6%) and motor impairment, seizures and chest 3 repetitions of words (4%)
and 2 reps (3%) of the words investment and discomfort (see Figure 2).

Once realized the word count results of an analysis of speech repeated

words of parents with children of chromosome 2q.11.2- 2q.24.2 well as the
responses provided to other parents parent speech explaining settled or
formulating the situation and condition of their children as well as the response of
the parent who provided the dialogue (See table 2)

GRAFICO 2 PALABRAS FRECUENTES EN EL DISCUSO DE PADRES CON HIJOS

2q.11.2-2q.24.2
3% 3%
4%
20%
4% TDEA
4% DELECION
CONDUCTA

6% PROBLEMAS GASTROINTESTINAL
INTERACCIÓN

6% PARKINSON
16% DIETA
DUPLICACIÓN
7% CONVULSIÓN
7% TRASTORNO MOTOR
10%
10% PECHO

In Table 2, it is evident that the frequency of words TDEA, intolerance to

dairy and happiness or affable, are words that have a greater than the remaining
repetition, which, the incidence of TDEA is significant, followed by intolerance to
dairy that relates to gastroinstestinales problems and the happy word related to the
way they relate which can be calibrated, not distant interaction. After these
repetitions more than three times, frequent words repeats twice, were located
major depressive disorder, Expression (linked to the difficulty of communicating)
heart problems, constipation, bloating, help, movement disorder and Parkinson's
and for frequencies of 1 word Hipermovilidadad were located, independence,
mobility, muscular dystrophy and mood change

All these repetitions of words according to their frequency, related to the

case study of child Ra. where it was shown that the characteristics presented Ra.
were linked with 11 mentioned aspects total 23 areas identified cases of children's
speech 6 parents., ie 47.82% which is linked validates that the characteristics
presented Ra. They are binding to the group studied in a large percentage allowing
affirm and respond in relation to what are the characteristics of children 0-12 years
presenting the 2q.11.2- 2q.24.2 chromosome according to the speech of parents ?,
these global characteristics are linked to behavioral problems prone Autism
Spectrum Disorder (TEDA), plus disorders hypermobility Disorder or Attention
deficit Hyperactivity Disorder (ADHD), with incidence of gastric problems and
intolerance lactios with difficulty expression, ie speech difficulties and certain
peculiarities of disorder in the movement or balance and some cases heart
problems.

This determines that such cromosopatia sets, affectations more marked in

the behavioral and cognitive aspects field in engines. However, what is relevant in
this paper is to initiate or approach from the hermeneutical analysis What is
consciousness and behavior of these children ?: The consciousness of these
children and their behavior are framed in a relationship between TDEA and ADHD
(attention problems, overactivity and impulsivity) which these criteria are set out in
the diagnostic and statistical Manual of disorders IV separately today but in the
diagnostic and statistical Manual of psychiatric disorders V, the plasma as related
where one converges on the other however the sum of both as the case of ASD
behaviors, such as poor empathy, poor social skills or pragmatic difficulties are
present in ADHD, connected to attention deficits 15 .

However, evidence lactose level problems, evidence incidence of psychiatric

problems, since the channel activity of
calcium can be an important process in relation to psychiatric disorders 16
 C UAD R O 2: R E P E T IC IÓ N D E F R AS E S Y P AL AB R AS D E L O S P AD R E S Y R E S P UE S T AS D E O T R O S P AD R E S E N
F A C E B O O K C O N N I Ñ O S D E 0 -1 2 A Ñ O S C O N C R O MO S O P A T I A 2 q . 1 1 . 2 -2 q . 2 4 . 2 Y L A R E L A C I Ó N C O N E L C A S O A
E S T UD IAR
C AS O R A. Y S U RESPUESTA DEL C ONTEO
D IA L O G O D E L P A D R E RESPUESTA DE
R E L A C IÓ N C O N P AD R E S H I JO S ED AD P A D R E O MA D R E A DE
O L A MA D R E OTR OS P AD R E S
OTR OS C AS OS OTR OS P AD R E S P ALAB R AS
NO TD E A 3
TR A S TO R N O TR A S TO R N O
NO 2
D E P R E S IV O MA Y O R D E P R E S IV O MA Y O R
SI EX P RES AR EX P RES AR 2
D .A. JOS U E 11
SI H IP E R MO V IL ID A D 1
P R O B L E MA P R O B L E MA S D E L
NO 2
C ORAZ ON C ORAZ ON
D OLOR D E
NO D OLOR D E P EC H O 2
PECHO
SI IN D E P E N D IE N T E 1
SI E S T R E Ñ IMIE N T O E S T R E Ñ IMIE N T O 2
IN T O L E R A N C IA IN T O L E R A N C IA
NO C O MID A S 2
C O MID A S
FRAN C AS MARIA 5
SI L A C TE O S L A C TE O S L A C TE O S 3
D IS T E N S IO N D IS T E N S IO N
NO A B D O MIN A L A B D O MIN A L 2
NO MO V IL ID A D 1
SI A Y UD A R A Y UD A R 2
N E L RE D MARI 12 N O H UB O
R E S P UE S T A N O H UB O R E S P UE S T A 0
NO TD E A 1
D IS T R O F IA
NO S .C RE S D AV ID 12 MUS C UL A R D IS T A L 1
N O H UB O
R E S P UE S T A N O H UB O R E S P UE S T A 0
SI L E V A N TA R S E S O L A 0
SI C A MB IO D E H UMO R 1
SI B ARB AR B E RTH A 4 F E L IZ F E L IZ F E L IZ 3
P R O B L E MA S D E
NO S UE Ñ O 1
TR A S TO R N O D E L TR A S TO R N O D E L
SI MO V IMIE N T O MO V IMIE N T O 2
NO N A.D E NG H E C TOR 4 P A R K IN S O N P A R K IN S O N 2
NO C O N V UL S IO N E S 1
SI C O N C IE N C IA C O N C IE N C IA 2
F u e n t e : D a t o s P r o p io s a t r a v é s d e w w w . f a c e b o o k . c o m

It is important to note that the overlap of genetic similarities in characteristics

of ADHD and TDEA are manifold 17. The genes influence mental as different paths
as the synapse and calcium channels converging disorders through gene and
directly gen- by epigenetic which is an indirect way because it can change the
genetic plasticity

This situation must refine medically non - specific and related to time with
various disturbances molecular mechanisms, which outlines doubts about the
boundaries between different entities within the meaning of debating whether they
are truly unequal entities, disorders with common pathogenic basis or even
different variants of the same disease. 18

In that sense, it leads us to reflect and think more accurately define these
two morbidities as TDEA and ADHD in the case study and the analyzed cases
related to the case of Ra and the similarities and differences are closer to a
similarity, which leads to establish that these two stocks diseases propose a single
disease entity, which makes us think that should be discussed improving
definitions TDEA and ADHD separately or creating a new defición on a different
entity, which is for discussion at other times of the new becomings.

Overlapping genetic mechanisms between disorders results from the

copious pleiotropy discovered in complicated human disorders (the pleiotropy
achieved involving around 17% of the genes that have coalesced disease or traits
of diseases 19 implying that a variant of a disease can generate different diseases,
prenatal modulated by environmental effects and postnatal biological product or
epigenetic factors, which are manifested in neuroplastic adaptations.

Under the above, consciousness and behavior of this type of chromosome

based on a hermeneutical analysis of parents who have children in these
segments of chromosome 2, a preliminary approach which are considered to be
impaired children can be performed behavior with greater exposure to the lack of
attention deficit that the process of social interaction, where hypermobility and
coordination problems in many or some cases is present, however from the
consciousness present a social consciousness where the limits and rules not are
accepted and unsuitability of it all for executives or cognitive delay is related to
brain immaturity, which in many cases are linked to relevant linguistic problems
problems, its absence demonstrates the difficulty of abstracting from the abstract of
social construct leading to a hostile behavior, disruptive and maladaptive well as
oppositional to the social environment.

But certainly these answers to the questions posed, timid steps toward a
determination of the cromosopatia studied and will be consolidated in the coming
decades 16 to the extent that genetic and discipline of psychiatry establish a
deepening of the case.
Bibliography

18,17.18.19.20 Artigas-Pallarés, J. (2013). Autism and attention deficit disorder /

Hyperactivity: convergences and divergences. Genetics. Rev

Neurol, 57 (Suppl 1): S155-61. Available at: [Accessed: 2015, June 12]

Comorbidity of autism spectrum disorder and attention deficit hyperactivity

14.15.
disorder. Review study (2015).. Rev Neurol; 60 (Suppl 1): S37-S43. Available at:
www.neurologia.com [Consulted: 2015, June 12]

3.Rare Diseases in Pediatrics (2008) Available at: www.elsevier.es/medicinaclinica

[Consulted: 2015, May 22]

Rare Diseases, an emerging paradigm in medicine of the XXI century (2009)

. 4.5
Available at: www.elsevier.es/medicinaclinica [Consulted: 2015, May 22]

rare diseases. Concept, epidemiology and current situation in Spain (2008)

Available at: http://recyt.fecyt.es/index.php/ASSN/article/view/1963/1398
[Consulted: 2015, May 29]

13 On-line resources in the management of rare diseases (2008) Available at: http:
//scholar.google.es/scholar q = RED + IN + INTERNET + DE + + RARE
DISEASES & btnG = & hl = en & as_sdt = 0% 2C5? [See: 2015, June 02]

Epigenetics. (2013) Available at: https://www.youtube.com/watch?v=18IcvIg-lOc

[Consulted: 2015, March 22]

Needham J. A History of Embryology , Abelard-Schuman: New York, 1959.

13 Chromosome 2. Available at: www.facebook.com [Accessed 24 May 2015]

8.9.
Maritany, Ramon, 2013. Deprogramming Genetic-Emotional. Available in :
https://www.yutube.com/watch?v= llZFRDHf2wk [Accessed 30 May 2015].

Mendoza, Edilberto, 2008. Genetics. Available in:. http://www.youtube.com

6.7.
[Accessed 30 May 2015]
11.12.
Robetson, Sally (2014): What is the Chromosome 2 ?. Available in:
http://www.news-medical.net/health/What-is-Chromosome-2-
%28Spanish%29.aspx

Tagcrowd (2015) Clouds of words. Available at:. Http://tagcrowd.com/ Accessed

June 9, 2015]
10.
Waddington CH. The pupal contraction as an epigenetic crises in Drosophila.
Proc Soc Lond zool A 1941; 111: 181-8.