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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.