Agenesis Corpus Colostrum
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Transcript of Agenesis Corpus Colostrum
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Agenesis
Agenesis of the Corpus Callosum
The Agenesis of the Corpus
Callosum
Generally, Corpus callosum Agenesis refers to a congenital abnormality in the brain which
occurs when the corpus is not able to develop as it should during the prenatal early period. It
is important to note that this abnormality can occur as medical or physical conditions or as an
isolated condition or by association with other abnormailites of the brain. Corpus callosum isthe largest brains middle structure that; starts to develop around tenth to eleventh week of
pregnancy, consists of over two hundred million nerve fibers which connect the two
hemisphere of brain, transfers and integrates sensory, cognitive and motor information
between the cerebral hemispheres and continues to mature throughout the pregnancy period
and into both childhood and adolescence. It is important to note that the type of callosal
abnormality that can occur mainly depends on the timing and cause of disruption to the
prenatal development of brain. he corpus callosum will not develop later in case it does not
form during the prenatal period. here are some variations in how the callosal conditions may
be describes by medical providers and in medical reports currently.
!ome of the most commonly used terms to describe these conditions include; ACC orAgenesis of the corpus callosum is a condition in which a portion or all of the corpus
callosum including both partial and complete ACC is absent, agenesis of the Corpus callosum
"AgCC#, acronym that has appeared more recently in some research literature and is where a
part or all of the corpus callosum is absent, C$ACC refers to Complete corpus callosum
agenesis in which none or only a part of corpus callosum e%ists, &$ACC, part agenesis of the
corpus callosum whereby a portion of an individuals corpus callosum is absent and in most
cases it is the posterior portion that is absent, 'ypogenesis of the corpus callosum which is
another term used to describe Agenesis corpus callosum sometimes, 'ypoplasia of the corpus
callosum in which the corpus callosum is present even though abnormally thin and the
(ysgenesis of a corpus callosum whereby the corpus callosum is present despite the fact that
it is malformed in some way and includes 'ypoplasia and partial agenesis of the corpus
callosum.
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It is usually not very easy to determine the e%act incidence of agenesis corpus callosum and
many other callosal disorders due to the fact that there is need for a brain scan to diagnose the
condition and there is no one that know the number of people having agenesis of the corpus
callosum but do not know. he increased use and development of sophisticated and new
imaging technologies using clinical auditing softwareand prenatal technologies are
significantly assisting researchers and medical professionals to identify this medical conditionearlier in life and across the lifespan. Callosal disorder is estimated by many sources to
happen in up to four individuals per one thousand in the general population and happens more
fre)uently among individuals with developmental disabilities. A group of researchers in *.!
recently reported an incidence rate of one in four thousand births based on a review of
neonatal and prenatal imaging studies. 'owever, these researchers suggested that this may
actually be an under estimate of the true rate occurrence.
*sually, it is very difficult to determine the definite cause of the callosal abnormality even
though medical testing including the genetic testing can provide valuable information
sometimes. Agenesis of the corpus callosum researchers including genetics specialists are
currently working around the clock to gain a clearer and better comprehension of the causesof these conditions. It is important to know that some of the possible causes include but not
limited to; inherited genetic factors, prenatal in+uries or infections, prenatal e%posures,
metabolic disorders, structural blockages like cysts, chromosome errors and many other
unknown factors.
Callosal conditions are basically diagnosed by a brain scan which involves; prenatal magnetic
resonance imaging which provides the most detailed information, prenatal ultrasound and
computeried tomography. -ven callosal abnormality can happen in the form of an isolated
type of condition in an individual, it good to know that this condition may also happen in
association with medical or physical conditions or with other brain abnormalities. Agenesis
corpus callosum can happen as along with a specific grouping of congenital abnormalities or
in association with an abnormality of the chromosome. ecause of this, there are some
individuals with callosal conditions who are )uite healthy while there are others who may
have additional physical or medical conditions that impact health and development in various
ways.
here are a number of more common syndromes and anomalies associated with agenesis
corpus callosum. /or instance, the brain anomalies that occur with agenesis of the corpus
callosum sometimes include hydrocephalus, schiencephaly which is deep cleft in brain
tissues, migration disorders, Anorld$chiari malformation and holoprosencephaly which is
failure of the forebrain to divide into its lobes. !ome of the other conditions that areassociated with ACC include but not limited to !hapiro, Acrocallosal, Aicardi, 0enkes,
Andermann, 0owat and /G.
/amilies and individuals usually find it very helpful to consult genetic specialist after the first
diagnosis of this disorder for diagnostic purposes and to help in future planning of the family.
It is important to note that research on the callosal disorders impact is in early stages and there
is new information that continues to come up. Current researchers however suggests that
individual with callosal disorders share some common communication, physical, behavioral,
cognitive and social features. ut there are the individual differences that e%ist among people
with callosal disorders ranging from cognitive challenges and subtle developmental to moredisability. All these differences are due in part to whether the person has additional medical,
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behavioral or physical conditions which also affect intellectual, health and development
disabilities.
here are several characteristic associated with individual suffering from agenesis of the
corpus callosum. 'ealth or physical related characteristics include but not limited to; vision
impairments which include far or near sightedness, strabismus, problems with depthperception and nystagmus. here is also low muscle tone, early feeding difficulties or gastric
reflu% or chewing and swallowing difficulties, high tolerance to pain, abnormal facial and
head features, sleep difficulties, spasticity or seiures, hearing impairments, elimination
problems which includes chronic constipation, and skeletal defects, genetic conditions,
genitor urinary defects, metabolic disorders and cardiac abnormalities which are less
common.
he developmental characteristics include delays in attaining motor milestones like walking,
sitting or riding a bike, early language and speech delays mainly in e%pressive
communication, delayed toilet training and clumsiness or poor coordination. here are also
the social or behavioral characteristics which include social immature, lack of self awareness,generally happy disposition, inability to take others perspective, problems in comprehending
and acting on others social cues, difficulty in maintaining keen attention, hyperactivity,
fearfulness, compulsive or obsessive behaviors and challenges with peer interactions as well
as relationships which seem to increase with the comple%ity and age of the social situations.
-ven though mental retardation can happen in association with callosal disorders, it is
important to note that people with agenesis of the corpus callosum may also have intelligence
that is normal. 'owever, it is suggested by research that even those individuals with agenesis
corpus callosum and normal intelligence may e%perience subtle cognitive and
neuropsychological challenges. hese include, difficulty imaging the conse)uences of their
own behavior and action, difficulty comprehending abstract concept or language, difficulty
comprehending sarcasm, slang and many other humor that are sophisticated, difficulty in
understanding other peoples emotions and perspective, communicating false information
while perceiving that it is true, limited sight into their own limitations and behavior,
difficulties with abstract reasoning, comple% tasks, problem solving like managing money,
misinterpretation of other peoples non verbal communication and early language and speech
delays especially with e%pressive communication.
It is important to note that since this disorder forms early in fetal development, it will not
develop later in case it does not develop at that time. Currently there are no proved medical
treatments specifically for the callosal disorders. 'owever, there is availability of treatmentfor other medical and physical conditions like sensory impairments, hydrocephaly, and seiure
which are sometimes associated with callosal conditions. o add on that, adult and children
suffering from this disorders can benefit from educational support, adult services and
individualied developmental therapies.
It is always good to consider obtaining consultations, interventions and evaluations from
various allied health, medical, social work and educational professionals, starting early in life
and proceeding throughout childhood and into maturity. !ome of the professionals who are
actually potential resources for individuals with agenesis corpus callosum and other callosal
conditions include but not limited to; neurologists, geneticists, endocrinologists, early
childhood special educators, early intervention specialists, behavioral psychologists, adultservice providers, physical therapists, occupational therapists, orthalmologists, pediatrician or
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pediatric nurse practitioners, neuropsychologists, special educators and language$speech
pathologists.
here are some children who only have mild learning
problems with the agenesis, but have normal intelligence. 'owever, there are some children
who may have severe handicaps like mental retardation, seiure, autism or cerebral palsy
disorders. Generally, how one child falls on this spectrum mainly depends to some e%tent on
whether other development problems of the brain are detected on the 01I and whether there
is any problem with the chromosomes of the child. he nerve endings of the corpus callosum
continue their growth throughout and become more developed even in via teenage period.
(uring this phase in their development, it is worth noting that children with a corpus callosum
that is normally made makes progress in their problem solving, abstract reasoning and there is
maturity of their social skill.
1emember that a child with a genesis corpus callosum may have sustained with his or herpeers till this age, but they may start to drag behind in social functioning and school work.
hus, the symptoms of agenesis corpus callosum can actually become more evident as they
grow into puberty and early maturity.
In case your physician sees a problem with the corpus callosum, he or she may prefer you for
a number of tests in case they are yet to be done. !uch tests can involve a more detailed
ultrasound scan mostly referred to as an ultrasound level 2 or fetal survey, amniocentesis to
analyse the genetic profile of your fetus as well as looking for any signs of infection. here is
also the fetal resonance imaging which is another safe and effective way to look at the brain
of the fetus. 01I provides pictures of the fetuss brain using different technology compared to
the ultrasound. !ince it basically uses a different efficient technology, it s worth noting thatfetal resonance imaging can easily detect other problems in the brain of your fetus that cannot
be easily detected on ultrasound.
!ince there is not treatment before birth fetuses with agenesis of the corpus callosum, it is
worth noting that treatment after birth entails managing the symptoms of the child well.
(uring pregnancy, it is essential for an e%pectant mother to ac)uire detailed diagnosis through
detailed ultrasound, 01I and amniocentesis so as to determine if there are any other
problems. Consider getting the appropriate specialists to help you in case it is revealed that
there is more severe handicaps that re)uire long term care.
It is important to know that the prognosis or outlook with agenesis of the corpus callosum isvariable. his condition does not result to death in many patients. -ven though most children
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with this condition live and have average intelligence, neuropsychological testing that is
carefully done shows subtle differences in higher cortical function than to persons of similar
education and age without agenesis corpus callosum. It is very vital for children with agenesis
corpus callosum accompanied by delay in development or seiure disorders to be screened for
metabolic conditions. It is worth noting that the mental retardation that is associated with
agenesis corpus callosum is not always progressive.
In rare cases, an abnormal corpus callosum can actually be determined from an au%iliary brain
scan that is done for another reason like head in+ury. Also development of other problems like
seiure may lead to further investigations such as a brain scan. his can come as a
considerable shock for an individual diagnosed in adulthood or late adolescent since they are
usually not aware that there has been any significant change in their brain formation. his can
also feel like an e%planation for some individuals about the difficulties they have gone
through in their life.