Interview with Dr. Rocco Agostino

By nature, man has five senses. One of these, hearing, (along with language) provides a basis for the person's intellectual development, as a means of social interaction and individual expression. It was not by chance that Aristotle wrote "the ear is the organ of education," expressing the concept that hearing is at the root of language development.

Any defect in this delicate and complex system can compromise the natural learning process by altering or delaying language development, especially when the problem occurs in the first few months of the child's life, or even more so, if it is already present at the time of birth.

Today deafness among infants is still a frequent occurrence in our country; however, it can now be identified early on through screening with otoacoustic emissions performed using specific equipment.

There are currently around 50 hospitals throughout Italy that perform the OAE test just after birth. This number is still not satisfactory, but thanks to health care professionals' awareness and concrete efforts, it is gradually increasing.

For this reason, the Ginevra Caltagirone Foundation has made a solid effort to contribute to neonatal diagnosis of this specific condition, by donating Otoport Screening equipment to the Fatebenefratelli Hospital in Rome. We were able to make this donation thanks to the cooperation of Dr. ROCCO AGOSTINO, head physician and director of the operating unit for Pediatrics, Neonatology, and Neonatal Intensive Care at this hospital.

Q&A

1-Dr. Agostino, could you please give us a more detailed explanation of congenital deafness?
Congenital deafness is a disability called "profound sensorineural hearing loss" in technical terms, which simply means that, from the time of birth, the child cannot hear. There are various types of hearing impairments and the sensory kind involves the inner ear, which transforms sound waves into electrical waves. Through the cells, this electricity goes to stimulate the nerve, which must then transmit this sound to the brain. Hearing impairments may be genetic, infection-related or caused by rare conditions based on malformations.

2-What's the difference between congenital deafness and acquired deafness?
Unlike congenital deafness, acquired deafness occurs after birth and is, therefore, related to non-genetic factors. For example, it could happen that a child loses his/her hearing due to a case of meningitis. Another case which could lead to acquired deafness is trauma - for example, a fall that causes hemorrhaging in the cochlea (which is the structure in the inner ear where sound waves are transformed into electrical waves).

3-How can one tell if a child is affected by this condition, and at what stage in development?
Normally, it is difficult to notice this problem immediately, because an infant is not expected to talk during the first few months of his/her life. After a couple months one would expect the child to start "babbling," or making sounds; however, it often happens that even a child affected by a genetic hearing impairment can produce sounds that are easily confused with those of a child not presenting any hearing issues. Even at one year of age, it could still be unclear as to whether the child is deaf, since not all children are speaking by that age. With the passing of time, there are some signs that could help the parents understand that the child presents some dysfunction in the auditory system - for example, if the child starts yelling for no reason at various times of day, or if the child does not turn his/her head when the phone rings or if an object falls.

Therefore, it is highly recommended that this OAE screening be performed so that the condition may be identified immediately. The screening is non-invasive and extremely simple; a sound is emitted in the child's ear and, depending on how it reverberates on the eardrum, the device is able to reveal whether the child can hear or not. This screening also allows us to decide how to go about treating the problem, because not all types of hearing impairments are the same; there are sensory, transmissive, and cerebral forms (e.g. there are some very rare cases in which the child is born without an acoustic nerve).

Sensory hearing impairment is definitely the most frequent form. If we consider that in the region of Lazio alone, 55 out of 55,000 children are born deaf, that mean that over the course of 10 years there will be 550 children affected by this condition. It's impossible to think that nothing can be done for them.

The screening phase is just the first essential step in the diagnostic process which, when necessary, must be followed by a series of more in-depth diagnostic examinations, then therapeutic treatment and a rehabilitation process (which is absolutely necessary for children who have never been able to hear and have, therefore, never spoken).

Today technology is able to provide a perfect substitute for the sensory organ through a surgical procedure: the cochlear implant. This consists of inserting a tiny tube in the child's ear, which contains 22 sensors designed to stimulate the vestibular nerve. An external device is used to amplify sound, sending an impulse to the brain through an antenna inside (magnet), which then transmits the amplified sound received from the outside.

4-How is congenital deafness transmitted to the fetus?
Birth defects are not always hereditary. For example, in some cases alterations or infections occurring during the pregnancy (e.g. cytomegalovirus) can cause congenital deafness due to the sensory organ being damaged. Other forms of congenital deafness may be transmitted genetically - here we are talking about two groups of genes called connexin 26 and connexin 30, which are responsible for codifying proteins needed for the proper functioning of the auditory system. If these genes mutate and no longer codify properly, or fail to codify all together, deafness occurs. If the mutated gene comes from both parents, the child will be born deaf; if only one of the parents transmits the mutated gene, while the other parent is a non-carrier, the child will not be affected by the condition, but he/she will be a carrier of congenital deafness. Around 60% of the cases of profound sensory hearing impairment originate genetically, while 30% are infection-related, and 10% result from other types of malformations.

5-Does a carrier parent show any symptoms?

No, parents carrying this gene do not present any symptoms, but genetic testing (via blood sample) can be performed to see if they are carriers of the mutated connexin 26 gene. Unfortunately, the results are still not 100% accurate even today.

6-When can the first OAE screening be performed?

Otoacoustic emission screening can be performed as soon as the child is born, but we prefer to wait until the child is 7 days old, since the ear canal is reasonably clean around that time. One must consider that newborns have vernix caseosa in the ear canal at the time of birth, and this could alter the test results. So, it is better to wait a few days until the ear is completely clean.

7-What phases follow the diagnosis of deafness? How can the issue be addressed?

Once a negative result is obtained from the screening, the test must be repeated after about a month, in order to confirm the diagnosis. After that, the child will be given another test called "auditory evoked potentials" (performed using 3 electrodes positioned on the forehead). This makes it possible to observe how the brain reacts to sound stimulation, thus providing a further understanding of whether or not the child can hear. If these results are also negative, the rehabilitation process will begin, and an external aid will be applied depending on the degree of impairment. In the event that the aid does not allow the child to hear sufficiently, the next step is to introduce a cochlear implant through a surgical procedure. This entails the insertion of a tiny tube with 22 sensors, which will replace the sensory organ in stimulating the vestibular nerve at different points corresponding to the range of sounds - going from grave to acute. The most difficult phase is the one to follow, when a child who has never been able to hear before suddenly starts hearing, but does not understand. The child, therefore, needs to be rehabilitated with speech therapy and a great deal of help from his/her parents, which is fundamental.

8-Through auditory screening, is it possible to fully restore hearing? What hope can we give the children who are affected by this condition?

There is a lot of hope, considering that scientific progress has made it possible to restore hearing. We can do a lot for these children through the three fundamental phases - screening, surgery to replace non-functioning systems, and language rehabilitation. The problem is that our society still has to decide whether or not to invest in this area. We have to decide whether the 500 children born with this defect in Italy every year should remain deaf or be helped. All of this has a cost, not only in terms of funding, but also spreading information and raising awareness and support, in such a way that speech therapists become more sensitive to the various options for hearing impaired children, so that we can help them in the best way possible.

9-What have you been able to achieve through the contributions made by the Ginevra Caltagirone Foundation and what are your plans for the future?

The Ginevra Caltagirone Foundation purchased a new device used to measure the otoacoustic emissions, and this now allows us to screen all infants on a routine basis. As for future plans, those of us here at Fatebenefratelli are working on a center for cochlear implants, with the participation of some very highly prepared ear doctors who have completed training in Sweden. The cochlear implant is even performed bilaterally there, and we hope to be able to perform this procedure at our hospital one day.

Interview conducted by
Lorenza Aquilani