CASE 1: TRANSIENT CONDUCTIVE HEARING LOSS
A 1 week old male visited his pediatrician for his first well-child visit. The provider obtained the newborn hearing screening results from the infant’s birthing hospital and saw that the child did not pass OAE screening in one ear. The parents were very worried about their child’s hearing. The provider explained that 2-10% of babies do not pass their initial hearing screening, but most of these babies do not have permanent hearing loss. He also explained that things like earwax or vernix in the ear canal can affect the OAE test. He that it was important to be screened again before the child was 1 month old and confirmed that they already had an appointment scheduled for rescreening. Upon rescreening, the infant passed both OAE and AABR in both ears. At the second well-child visit, the provider reviewed these results with the parents and explained that the child probably did not pass the initial screening due to transient conductive hearing loss. The initial screening was done less than 24 hours after birth and there was a high likelihood that there was vernix in the ear canal. He then explained how the parents could monitor their child for any signs of later onset hearing loss.
CASE 2: PERMANENT CONDUCTIVE HEARING LOSS
A six month old was brought to his pediatrician for severe otitis media. The patient had passed initial newborn hearing screening with OAE, but had frequent severe ear infections since then. The pediatrician recognized this as a risk indicator for hearing loss and called the NHSP, who helped him find a local pediatric audiologist to perform a diagnostic evaluation. The pediatrician encouraged the parents to visit audiology after the ear infection resolved to see if there had been any hearing damage from the frequent infections. The audiologist performed diagnostic ABR testing and a behavioral assessment and diagnosed the child with a mild hearing loss. Physical examination revealed that the infections had caused scarring in the ear canal, causing permanent conductive hearing loss. The patient was immediately enrolled in Early Intervention and experienced minimal delays in developmental milestones and language acquisition.
CASE 3: SENSORINEURAL HEARING LOSS
A 1-week old female was brought to her pediatrician for her first well-child visit. The pediatrician did not have her newborn hearing screening records and asked the parents if they knew if the screening had been performed. The mother explained that she gave birth in her home, so they had not had newborn screening. The pediatrician explained the importance of getting the child’s hearing screened before 1 month of age and, with the help of the NHSP, made a referral for screening. At 2 weeks of age, the child was screened using OAE and AABR and did not pass either screening in either ear. At one month of age the child returned to her pediatrician, who confirmed that the patient had a referral to audiology for a diagnostic evaluation. The parents knew they had a referral to audiology, but had not yet made an appointment. The pediatrician stressed the importance of having their child’s hearing evaluated before she was 3 months old. At 2 months of age, the child returned to her pediatrician for another well-child visit. The pediatrician had not received any audiology results and asked the parents if they had them. The parents said they had not made an appointment yet because they were too busy and were not very concerned. The pediatrician stressed the importance of early intervention if the child has hearing loss, and helped the parents make an appointment. At the audiology appointment, the child did not pass OAE or ABR in either ear and was diagnosed with moderate sensorineural hearing loss. The pediatrician reviewed the results with the parents and explained that there could be many underlying causes. She made referrals to ENT, ophthalmology, and genetics as well as Early Intervention. At the ENT appointment, it was revealed that the mother had flu-like symptoms during her pregnancy but did not seek treatment. The child tested positive for CMV, which was likely the cause of the flu-like symptoms in the mother and the hearing loss in the child. The child was enrolled in Early Intervention and fitted with hearing aids at 5 months of age and experienced no developmental delays.
CASE 4: AUDITORY NEUROPATHY
A 2-week old male visited his pediatrician for his first well-child visit. Upon review of newborn hearing screening results, the pediatrician saw that the child passed OAE in both ears and, since he passed, AABR was not performed. The pediatrician reviewed the risk factors for hearing loss and decided further hearing evaluation was not necessary at that time. At 8 months of age, the child presented for another well-child visit. At this visit, the parents expressed concern about their child’s hearing. They stated that their child did not seem to respond to any noises and was not making sounds like their previous child had at his age. Recognizing parental concern as a risk indicator for hearing loss, the pediatrician referred the patient for a diagnostic audiology evaluation. Diagnostic ABR testing and a behavioral assessment revealed a severe hearing loss in the child. Since the child passed OAE and failed ABR, he was diagnosed with auditory neuropathy. The pediatrician immediately enrolled the child in Early Intervention and made referrals to ENT, ophthalmology, and genetics for medical evaluation.
CASE 5: SYNDROMIC HEARING LOSS
A 2-week old female visited her pediatrician for her first well-child visit. She was born prematurely and her hearing was screened with OAE and AABR in the NICU. She did not pass screening in either ear. She was in the NICU for 6 days so, rather than being rescreened, she was referred directly to audiology by the hospital. The pediatrician reviewed the screening results with the parents and confirmed that they had an appointment scheduled in the next 2 months. At one month of age the child was seen by an audiologist for a diagnostic evaluation. After diagnostic ABR testing, she was diagnosed with severe hearing loss. At her next well-child visit, her pediatrician referred her to their local Early Intervention services with the help of NHSP. The cause of the hearing loss was yet unknown, so the pediatrician referred the child to ENT, ophthalmology, and genetics. The child did not yet have any symptoms other than the hearing loss, but was monitored regularly by ophthalmology and genetics, since many inherited forms of syndromic hearing loss can affect the eyes or can have other symptoms appear later in life. At age 5, an ophthalmology exam revealed that the patient was beginning to experience night blindness and a narrowing of the visual field, both signs of retinitis pigmentosa. The patient’s genetic counselor ordered genetic testing for Usher syndrome and she was found to be homozygous for a mutation that causes this autosomal recessive condition.
CASE 6: NONSYNDROMIC HEREDITARY HEARING LOSS
A 1-week old male visited his pediatrician for his first well-child visit. Before the appointment, the physician had been contacted by NHSP to inform him that they had not received newborn hearing screening results because the parents refused newborn hearing screening at the hospital. At the appointment, the pediatrician learned that both parents were Deaf and communicated with sign language. The pediatrician collected a family history and learned that the mother was born deaf and had a strong family history of nonsyndromic deafness inherited in an autosomal dominant pattern. The father was born with normal hearing, but acquired meningitis as a child, which caused him to lose his hearing. The parents met at a school for the deaf and were both advocates for Deaf culture. The pediatrician informed the parents that the family history of hearing loss on the mother’s side put the child at high risk for hearing loss and asked why they refused newborn hearing screening. The parents expressed that they did not view deafness as a disability and did not see the point of screening for it when they would not consider hearing amplification for their child. The pediatrician explained that if the child were found to have hearing loss, he would not be forced to undergo any treatments, but could be enrolled in programs to maximize his potential. The parents still did not feel that hearing screening was necessary and the pediatrician respected their choice to refuse screening and conveyed their refusal to NHSP.