For a couple expecting their first baby, there are many emotions that will span across the pregnancy. Of these emotions, fear and anxiety is quite common among couples who have undergone prenatal genetic counseling and have been alerted to the potential genetic disorder of their unborn infant. Of these genetic disorders, Aicardi syndrome, while rare, can lead to significant fear and anxiety in the expectant parents.
Aicardi syndrome a rare genetic disorder believed to be connected to a complication in the dominant X-chromosome which means the complication will only present in the live birth of female infants. As a condition that creates complications involving the mental, cognitive and visual function of the infant, it is quite normal to feel distressed over the arrival of your newborn daughter when prenatal genetic counseling reveals Aicardi syndrome may be present.
When your daughter is born with Aicardi syndrome, she will suffer from complications associated with the corpus callosum, a component of the brain that connects the right and left hemispheres. As a result, it is not uncommon for your daughter to experience complications associated with the neurological system, including seizure disorders. Additionally, because the defect upon the dominant X-chromosome is present, the development of the choroid and retina of the eyes will be affected leading to complications involving vision immediately after birth.
Without prenatal genetic counseling, a female infant born with Aicardi syndrome may not be diagnosed with the complication until spasms, seizure disorders and complications of vision become more apparant. As a general rule, these complications in the Aicardi syndrome infant will appear as late as five months of age. To diagnose the genetic disorder, the healthcare professional, usually the child’s pediatrician, will order a variety of diagnostic tests from MRI to genetic testing. Once confirmed as Aicardi syndrome, a treatment plan will be established and tailored to the needs of the child.
Treating Aicardi syndrome almost always includes the use of neuroleptic prescription medications to control the spasms and seizures so commonly associated with this syndrome. Additionally, vision correction is the next major consideration as, without proper vision management, your infant daughter will only further be impaired in child development. Beyond these treatment options, the next major issue is diet and nutrition as the child who suffers from Aicardi syndrome, in most cases, will be limited to baby foods or pureed foods which are generally fed after the age of one but may continue for the life span.
Because unborn male infants with Aicardi syndrome will not survive the gestational period, it is inevitable that a miscarriage or fetal demise will occur before the birth. However, for female infants, the life expectancy can range anywhere from six to 14 years of age.
As a couple who is expecting an infant, confirmed as carrying the genetic code for Aicardi syndrome, there are many medical concerns to be addressed during the prenatal period in preparation for the child’s birth and health needs after birth. Without proper genetic testing, during the prenatal period, many parents are surprised to learn of the genetic disorder in their infant daughter and even more distressed as the sudden anticipation of her shortened life expectancy.
