RESUMO
OBJECTIVE: To explore the clinical strategies for the screening of newborn eye diseases and obtain information concerning the incidence of newborn ocular diseases. METHODS: Newborns in a baby-friendly nursery were evaluated for mass screening of eye diseases 2 to 7 days after birth (including reaction to light stimulation, external ocular examination and test for pupil red reflex) and those with abnormalities were subjected to diagnostic examination (external ocular examination with a hand-held slit-lamp, pupil red reflex and mydriatic examination). Newborns in neonatal intensive care unit (NICU) were subjected to screening 5 to 14 days after birth and then, together with those with high risk factors, received a comprehensive examination for screening and diagnostic purposes. The suspected cases were referred to department of ophthalmology for definite diagnosis. RESULTS: Among the 15,398 (91.65%) newborns who were enrolled the screening program, 12 different eye diseases (involving 1266 cases) were detected, with a prevalence of 8.22%. Of these eye diseases, 7 were congenital ocular diseases, involving 809 cases (5. 254%) and including congenital ptosis in 2 cases (0.013%), congenital corneal opacity in 6 cases (0.039%), persistent pupillary membrane in 724 cases (4.702%), congenital cataract in 15 cases (0.097%), persistent hyaloid artery in 54 cases (0.351%), obstruction of nasolacrimal duct in 7 cases (0.046%) and lacrimal gland prolapse in 1 cases (0.007%). Five different diseases (457 cases, 2. 968%) detected were acquired in nature, including neonatal conjunctivitis in 391 case (2.539%), vitreous hemorrhage in 6 cases (0.039%), retinal hemorrhage in 34 cases (0.221%), and neonatal dacryocystitis in 23 cases (0.149%). Of 27 premature babies with body weight lower than 1500 g, 3 had retinopathy of prematurity (ROP, 6 eyes involved). CONCLUSIONS: Early intervention is of great importance for the prevention and treatment of neonatal ocular diseases. The screening of newborn ocular diseases is not only feasible but also effective in the monitoring and control of the eye diseases in neonates.
Assuntos
Anormalidades do Olho/epidemiologia , Oftalmopatias/epidemiologia , Triagem Neonatal , China , Feminino , Humanos , Recém-Nascido , Masculino , Projetos Piloto , PrevalênciaRESUMO
OBJECTIVE: To explore the relationship between GJB2 gene mutations and severe-to-profound bilateral non-syndromic hearing impairment (NSHI). METHODS: Peripheral blood was collected from 20 infants with severe-to-profound bilateral NSHI confirmed by otoacoustic emissions (OAE), auditory brainstem responses (ABR) and clinical physical examination, 11 male and 9 female, aged 3 months to 3 years. PCR and sequencing technique were used to analyze the coding region of GJB2 gene. Fifty persons with normal hearing, 25 males and 25 female, aged 20 approximately 50, all without family history of hearing impairment, were used as controls. RESULTS: Three infants (15%) were identified as 235delC/235delC homozygotes; one infant was identified as 235delC/299-300delAT compound heterozygote; one was identified as 235delC heterozygote; and one as 235delC/605ins46 compound heterozygote with 605ins46 mutation, a novel mutation reported in Chinese for the first time. GJB2 gene mutations were found in 5 NSHI infants (25%). The allelic frequency of 235delC allele was 22.5% in the NSHI infants and 1% in the control group (P < 0.01). Besides, multiple polymorphisms such as V27I, V37I, E114G, T123N were found in both the patients and controls. CONCLUSION: GJB2 analysis is an important test for infants with severe-to-profound bilateral NSHI. 235delC is the main pathogenic mutation site in GJB2 gene.
Assuntos
Conexinas/genética , Perda Auditiva Bilateral/genética , Mutação/genética , Adulto , Pré-Escolar , Conexina 26 , Análise Mutacional de DNA , Feminino , Genótipo , Humanos , Lactente , Masculino , Pessoa de Meia-Idade , SíndromeRESUMO
Mutations in GJB2 account for the majority of recessive forms of prelingual hearing loss. However, in most previous studies it was not possible to distinguish between congenital (present at birth) and non-congenital prelingual hearing loss. In the present study, the frequency of GJB2 alleles in 20 newborns with bilateral severe-to-profound non-syndromic hearing impairment (NSHI) who were found at birth through newborn hearing screening and clinical examination is reported. PCR was used to amplify the coding region of GJB2 gene followed by sequencing analyses. Fifty volunteers with normal hearing were included as controls. Results showed that three cases were 235delC/235delC homozygotes; one was 235delC/605ins46 compound heterozygotes, 605ins46 mutation was a novel mutation reported in the Chinese population; another was 235delC/299-300delAT compound heterozygotes. 25% (5/20) of the deafness in newborns studied was caused by GJB2 gene mutations. The frequency of 235delC allele carrier in patients and in control group was 22.5% and 1%, respectively. One case was identified as being a 235delC heterozygote without other mutations detected. Besides, multiple polymorphisms such as V27I, V37I, E114G, T123N were also detected. In conclusion, GJB2 analysis is an important test that identifies a major cause of newborns with bilateral severe-to-profound NSHI screened by universal newborn hearing screening in Northern China. The most common pathologic mutation of GJB2 in studied cases was 235delC. Molecular analysis and genetic counseling will be extremely important for congenital deafness present at birth.
Assuntos
Conexinas/genética , Perda Auditiva Bilateral/genética , Mutação/genética , Estudos de Casos e Controles , Conexina 26 , DNA/sangue , Análise Mutacional de DNA , Feminino , Humanos , Recém-Nascido , Masculino , Mutagênese Insercional , Triagem Neonatal , Reação em Cadeia da Polimerase , Polimorfismo Genético , Deleção de SequênciaRESUMO
OBJECTIVE: The purpose of this study is to bring out the consultable laboratory values of synchronous evoked potential in normal neonates and infants, investigate the characteristic of the electric response waveform, and explore its feasibility on applying to newborn auditory and visual function test as an electric physiology detection method. METHODS: It was applied to go on measuring 19 cases of mature normal neonate (< or =4 days) and 11 cases of infants (< or =5 months), also comparing with the study of ABRs, FVEPs independently. RESULTS: Get the electric response wave form results of synchronous electric evoked potential in both groups of newborn-infants, through comparing with the result of independent ABRs and FVEPs, the monitoring result demonstrated that there were an extreme significant changes of the corresponding parameters (wave I, III, V latency) (P<0.01), and there were no significant changes of I-III, III-V interwave latency (P>0.05); it also shows that ABRs impact on FVEPs in N2 wave latency of newborn group and P1 wave latency of infant group (P<0.01). CONCLUSION: Auditory and vision pathway may be had communicated information by the neuron in the center. The technology of the auditory and visual synchronous evoked potential brings out the whole new electric physiology detection tools, it will definitely offer powerful technical support in step for newborn-infant auditory and visual function test.
Assuntos
Potenciais Evocados Auditivos do Tronco Encefálico/fisiologia , Potenciais Evocados Visuais/fisiologia , Feminino , Audição , Humanos , Lactente , Recém-Nascido , Masculino , Tempo de Reação , Visão OcularRESUMO
OBJECTIVE: To compare the pass rate of auto-auditory brainstem response (AABR) in infants complicated with different high-risk factors. METHODS: 245 infants (488 ears) with different high-risk factors, including premature, low-weight, hyperbilirubinemia, asphyxiation and pulmonary diseases, were tested by transiently evoked otoacoustic emission (TEOAE) and AABR at the same time. RESULTS: The pass rate of AABR and that of TEOAE were different for the infants with different high-risk factors. The number that passed TEOAE test and referred to AABR test: premature 15 ears, low-weight 3 ears, for hyperbilirubinemia 1 ears, for asphyxiation 5 ears, and for pulmonary diseases 35ears. The pass rate of AABR was reduced evidently when infants had pulmonary diseases and the complicated high-risk factors (chi(2) = 35.723, P < 0.01). Different high-risk factors produced different pass rates of AABR (chi(2) = 40.556, P < 0.01). CONCLUSION: High-risk factors effect the auditory function. The pass rate of AABR is reduced evidently when an infant has both pulmonary diseases and the complicated high-risk factors. We should pay attention to these infants in universal newborn hearing screening.
Assuntos
Potenciais Evocados Auditivos do Tronco Encefálico , Triagem Neonatal , Feminino , Testes Auditivos , Humanos , Recém-Nascido , Masculino , RiscoRESUMO
OBJECTIVE: To explore the risk indicators of newborn hearing loss. METHODS: Statistic description was used to analyze the basic characteristics of 41 hearing loss infants screened from 8,262 newborns; one way analysis was used by 1:2 matched case control study to analyze the risk indicators of newborns with hearing loss; chi-square test and multivariate condition Logistic stepwise regression mode were also used to find risk the indicators. RESULTS: By one way analysis, there were 3 high risk indicators associated with newborn hearing loss: family history of hearing loss, craniofacial anomalies, and NICU care history. By analysis of multivariate condition Logistic stepwise regression mode, family history of hearing loss (OR=16.945, 95% CI 1.21-237.369) and craniofacial anomalies (OR=6.703, 95% CI 0.61-73.85) were 2 independent risk factors of newborn hearing loss. CONCLUSION: Appropriate intervention measure should be done to reduce the high risk indicators that cause newborn hearing loss.
Assuntos
Perda Auditiva/etiologia , Estudos de Casos e Controles , Anormalidades Craniofaciais/complicações , Perda Auditiva/prevenção & controle , Humanos , Recém-Nascido , Unidades de Terapia Intensiva Neonatal , Modelos Logísticos , Fatores de RiscoRESUMO
OBJECTIVE: To investigate the results of hearing screening in newborns so as to explore the appropriate clinical strategy of hearing screening among newborns. METHODS: Transiently evoked otoacoustic emission (TEOAE) was used to examine the hearing of 10,501 newborns 2 - 4 days after birth. Those who failed the initial screening underwent secondary screening with TEOAE. Acoustic brain-stem response (ABR) and 40 Hz AERP were used to monitor the hearing of those who failed the secondary screening every 6 months since the age of 3 months to the age of 3 years. RESULTS: The false-positive rate was 14.92% in the initial screening, and was 0.26% after the 2-stage screening. 62 infants were diagnosed with hearing loss with a prevalence of congenital hearing loss (in one ear or two ears) of 5.90 per thousand and a prevalence of bilateral hearing loss of 2.76 per thousand. CONCLUSION: Hearing screening in the procedure with TEOAE, ABR and 40 Hz AERP helps identify infants with hearing loss as early as possible so as to conduct appropriate intervention.
Assuntos
Potenciais Evocados Auditivos do Tronco Encefálico , Transtornos da Audição/diagnóstico , Triagem Neonatal , Emissões Otoacústicas Espontâneas , China/epidemiologia , Reações Falso-Positivas , Feminino , Perda Auditiva/congênito , Perda Auditiva/epidemiologia , Humanos , Recém-Nascido , Masculino , PrevalênciaRESUMO
OBJECTIVE: To explore the feasibility of applying flash visual evoked potentials (FVEPs) for visual function test newborns and infants and bring out the consultable laboratory values of FVEPs. The technology of FVEP could be used as diagnostic tests for those who failed the screening and the infants who were cared for in the NICU. METHODS: 41 normal neonates (Assuntos
Potenciais Evocados Visuais
, Fatores Etários
, Feminino
, Humanos
, Lactente
, Recém-Nascido
, Masculino
, Fatores Sexuais
RESUMO
OBJECTIVE: To estimate tone-pip auditory brainstem response (tone-pip ABR) and auditory steady-state response (ASSR) thresholds to follow the development of hearing in four groups of normal babies through the first 6 month of life and to make a comparison between the tone-pip ABR and ASSR for 0.25 - 8 kHz frequency range at different groups. METHODS: The tone-pip ABR and ASSR were recorded in four groups of normal hearing infants (160 ears) at the age of 2 - 4 day, 6 weeks, 3-month and 6-month. Tone-pip ABR and ASSR thresholds were established in 0.25, 0.5, 1, 2, 4 and 8 kHz stimuli. RESULTS: For click ABR, the wave latency of I, III, V and inter-wave latency of I-III, III-V and I-V decreased as the age increase. The developmental changes were obvious in wave I and III before 6 weeks and 3 months respectively. Tone-pip ABR had the similar waveform as the click ABR. With the frequency increasing, their waveforms and wave latencies of I, III and V were getting better and shorter respectively. There was significant difference between the thresholds of tone-pip ABR and ASSR (all P < 0.05). The tone-pip ABR thresholds were significantly lower than those of ASSR from 0.5 to 8 kHz. Both ASSR and tone-pip ABR had similar audiograms for different age of infants with normal hearing. CONCLUSIONS: The longitudinal findings presented in this study suggest that with the maturational development, the wave latency of I, III, V and inter-wave latency of I-III, III-V and I-V of tone-pip ABR decrease as the age increase, while the hearing sensitivity have no changes. Both tone-pip ABR and ASSR have stable frequency specificity. Compared to the ASSR, tone-pip ABR have lower response threshold and maybe nearer to the hearing level of the infant.
Assuntos
Limiar Auditivo , Potenciais Evocados Auditivos do Tronco Encefálico , Audição , Testes Auditivos , Humanos , Lactente , Sensibilidade e EspecificidadeRESUMO
OBJECTIVE: To explore the model and the feasibility of newborn hearing and ocular disease simultaneous screening program and to study the birth prevalence of newborn hearing loss and newborn ocular diseases. METHODS: The universal newborn hearing screening (UNHS) was performed using transient otoacoustic emission (TEOAE) in well baby nursery and by a two-stage TEOAE and auto auditory brainstem response (AABR) protocol in neonatal intensive care unit (NICU). The UNHS was simultaneous done with newborn ocular disease screening program. The examination technical method was following: the response to light, external inspection of the eyes and lids, pupil examination, red reflex examination, funduscope examination after pupil dilation for referral (for all newborn in NICU). The infants who were referred by two-stage hearing screening and/or had high-risk factors of hearing loss received following-up and routine audiological evaluation and personalized intervention from 6 months to 3 years of age. The cases had positive sign and (or) abnormal results of the ocular disease screening were referred for further examination by pediatric ophthalmologists. RESULTS: A total of 16 800 children born in Jinan Maternal and Child Hospital from October 1, 2002 to April 30, 2005. Of these infants, 15 398 cases (91.7%) had access to the simultaneous screening program for hearing and ocular diseases. The incidence of congenital sensorineural hearing loss (SNHL) among infants who did UNHS was 0.312% (48/15 398) in bilateral and 0.227% (35/15 398) in unilateral; Of the 4 cases of congenital SNHL complicated with newborn ocular diseases: 1 profound SNHL (bilateral), auditory neuropathy with congenital cataract (bilateral), 1 mild SNHL (bilateral) with membrana papillaris perseverance (left) and 1 mild SNHL (bilateral) with retina vein dilatation (bilateral), 1 mild SNHL (right) with persistent hyaloid artery (bilateral). In all 15 398 newborns, 15 neonates with congenital cataract were detected (22 eyes, 0.10%). Twenty seven neonates with less than 1500 g birth weight admitted to NICU, retinopathy of prematurity was detected in 3 neonates (6 eyes). CONCLUSION: Hearing loss and ocular diseases was not rare in neonatal and infancy. Newborn hearing and ocular disease simultaneous screening program was not only feasible but also effective in detecting hearing loss and (or) ocular disorders. Early intervention was important for the prevention or treatment of neonatal hearing loss and (or) ocular diseases, such as newborn hearing loss with congenital cataract, retinopathy of prematurity and so on.
Assuntos
Oftalmopatias/prevenção & controle , Perda Auditiva/prevenção & controle , Triagem Neonatal/métodos , Oftalmopatias/congênito , Oftalmopatias/epidemiologia , Estudos de Viabilidade , Feminino , Perda Auditiva/epidemiologia , Testes Auditivos , Humanos , Recém-Nascido , Masculino , Testes VisuaisRESUMO
OBJECTIVE: To investigate the incidence and the relevant high-risk factors of congenital hearing loss for infants from well-baby nursery and newborn intensive care unit. To explore the scientific and feasible mode of early diagnosis, following-up and early intervention. METHODS: Two-stage universal newborn hearing screening ( UNHS ) were performed by using transient otoacoustic emission ( TEOAE ). Auditory brainstem responses ( ABRs) and 40 Hz auditory event related potentials (40 Hz-AERPs) was used as diagnostic tests for those failed re-screening at three-month old. Two kinds of infants who had abnormal ABRs or high-risk factors of hearing loss received following-up and routine audiological evaluation from 6 months to 3 years of age. Each infant with congenital hearing loss received personalized intervention. RESULTS: The incidence of congenital hearing loss among infants who received UNHS was 5.73 per thousand. The incidence of congenital hearing loss was 20.02 per thousand in NICU and 3.67 in WBN. CONCLUSIONS: Whether passed the UNHS or not , infants from NICU should receive ABR and 40 HzAERP tests. The following-up population includes infants with abnormal ABRs or high-risk factors of hearing loss. Following-up and early intervention should be personalized.