Pooling Saliva Sample as an Effective Strategy for the Systematic CMV Screening of Newborns-A Multicentric Prospective Study.

BACKGROUND: Cytomegalovirus is the most common cause of congenital infections worldwide. Screening all newborns in the first 2 weeks of life is the only way to detect all cases of congenital infection, allowing the monitoring of children with asymptomatic infection at birth and early intervention. AIM: In this multicenter study, we aimed to evaluate the feasibility of using a saliva pool strategy for mass screening in 7 Portuguese hospitals, and to estimate the current prevalence of this congenital infection in these hospitals. METHODS: A total of 7033 newborns were screened between June 2020 and June 2022, and 704 pools of 10 saliva samples were analyzed by polymerase chain reaction (PCR). RESULTS: Of the 704 pools analyzed, 685 were negative and 19 had positive PCR results for cytomegalovirus. After individual PCR testing, 26 newborns had positive saliva results, of which 15 were confirmed by urine testing. Thus, this study's prevalence of congenital infection was 0.21% (95% confidence interval: 0.12%-0.35%). CONCLUSIONS: In this study, the pooling strategy proved to be effective for the systematic screening of newborns, although this low prevalence raises questions regarding the cost-effectiveness of implementing universal screening. However, this prevalence is probably the result of the control measures taken during the pandemic; therefore, the rates are expected to return to prepandemic values, but only a new study after the pandemic will be able to confirm this.

Being Deaf in Mainstream Schools: The Effect of a Hearing Loss in Children's Playground Behaviors.

Naturalistic playground observations are a rich source of information when studying the social interactions of preschool children. On the playground, children can interact with their peers, explore different places and activities, and engage in different types of play. For deaf and hard of hearing (DHH) children, interactions at a playground can be more difficult because of the large number of auditory stimuli surrounding them. Constraints in the access to the social world on the playground might hamper DHH children's interactions with their typically hearing (TH) peers, activities, and play. This pilot study aimed to examine the playground behaviors of preschool DHH children across three aspects: social levels, type of activities, and play choices. For this purpose, 12 preschool DHH children were observed during recess time, and their behaviors were coded and compared to their 85 TH peers. The preliminary findings indicate that DHH children spend less time in social interactions compared to their TH peers and that they still face difficulties when socially engaging with their TH peers. These findings suggest that interventions should focus on three aspects: the physical environment awareness of TH peers about communicating with DHH children, and the use of exercise play to facilitate social interactions between DHH children and their TH peers.

[Congenital or Early Acquired Deafness: An Overview of the Portuguese Situation, from Diagnosis to Follow-Up]. / Surdez Congénita ou Precocemente Adquirida: Do Rastreio ao Seguimento, um Retrato de Portugal.

INTRODUCTION: Congenital deafness or early acquired deafness affects 1 to 3 out of 1000 newborns without risk factors and 20 to 40 out of 1000 newborns with risk factors. The universal newborn hearing screening enables its early identification. Children with congenital deafness/early acquired deafness have a higher prevalence of other conditions, especially ophthalmologic and neurodevelopmental ones, and at least 30% to 40% have at least one associated comorbidity. MATERIAL AND METHODS: We carried out a cross-sectional, multicenter study in which 83% (n = 30) of the hospitals/maternity hospitals of the National Health Service participated. RESULTS: All surveyed hospitals/maternity hospitals routinely performed universal newborn hearing screening to all newborns before discharge; 63% referred children with risk factors for hearing loss to Otorhinolaryngology. All children with congenital deafness/early acquired deafness are referred to: Pediatrics in 23% hospitals/maternity hospitals. In 23 hospitals/maternity hospitals, all children with congenital deafness/early acquired deafness are referred to: Speech Therapy in 44% hospitals/ maternity hospitals; Ophthalmology in 17% hospitals/maternity hospitals; National System of Early Intervention in Childhood in 30% hospitals/maternity hospitals; 22% of hospitals/maternity hospitals refer all children with congenital deafness/early acquired deafness, with no identified cause, to Clinical Genetics clinics. The number of diagnoses of deafness in the years 2014 and 2015 was 2.5 and 1.5 per 1000 newborns, respectively, in 15 hospitals/maternity hospitals. DISCUSSION: Awareness of universal newborn hearing screening seems to be widely spread in the National Health Service. The number of children with SC / SPA, as well as the percentage of different types of deafness diagnosed, were identical to those found in other studies and shows its importance. The assessment / follow-up of these children by specialties other than the otolaryngology was heterogeneous in different health entities and revealed that not all children with risk factors for deafness follow up advised by existing standards. CONCLUSION: Results show that Portugal made an important path in the screening and follow-up of children with SC / SPA. It is important, with the ultimate aim of continually improving the care of these children, to reflect on the involvement of specialties other than otolaryngology, such as the National Early Childhood Intervention System in the follow-up of these children.

Introdução: A surdez congénita ou precocemente adquirida afeta 1 a 3 por cada 1000 recém-nascidos sem fatores de risco e 20 a 40/1000 com fatores de risco. O rastreio auditivo neonatal universal permite a sua identificação precoce. As crianças com surdez congénita/precocemente adquirida têm uma maior prevalência de outras patologias, especialmente oftalmológicas e do neurodesenvolvimento, tendo pelo menos 30% a 40% uma comorbilidade associada.Material e Métodos: Realizámos um estudo transversal, multicêntrico onde participaram 83% (n = 30) dos hospitais/maternidades do Serviço Nacional de Saúde.Resultados: Todos os hospitais/maternidades inquiridos realizam, por rotina, o rastreio auditivo neonatal universal a todos os recém-nascidos antes da alta; 63% encaminham para Otorrinolaringologia crianças com fatores de risco de surdez. Todas as crianças com surdez congénita/precocemente adquirida são encaminhadas para Pediatria em 23% hospitais/maternidades. Em 23 hospitais/maternidades todas as crianças com surdez congénita/precocemente adquirida são encaminhadas para: Terapia da Fala em 44% hospitais/maternidades; Oftalmologia em 17% hospitais/maternidades; Sistema Nacional de Intervenção Precoce na Infância (SNIPI) em 30% hospitais/maternidades; referenciação para Genética de todas as crianças com surdez congénita/ precocemente adquirida, sem causa identificada, em 22% hospitais/maternidades. O número de diagnósticos de surdez nos anos de 2014 e 2015 foi de 2,5 e 1,5 por cada1000 recém-nascidos, respetivamente, em 15 dos  hospitais/maternidades.Discussão: O rastreio auditivo neonatal universal parece estar amplamente difundido no Serviço Nacional de Saúde. O número de crianças com SC/SPA tal como a percentagem dos diferentes tipos de surdez diagnosticados, foram idênticos aos encontrados noutros estudos e mostra a indiscutível importância do rastreio. A avaliação/acompanhamento destas crianças por outras especialidades, além da Otorrinolaringologia, mostrou-se heterogéneo nas diferentes entidades de saúde e revelou que nem todas as crianças com fatores de risco de surdez realizam o seguimento aconselhado pelas normas existentes.Conclusão: Os resultados mostram que Portugal realizou um percurso importante no âmbito do rastreio e seguimento das crianças com SC/SPA. Importa, com o fim último da melhoria continua da prestação de cuidados a estas crianças, refletir sobre o envolvimento de outras especialidades, além da Otorrinolaringologia, tal como do Sistema Nacional de Intervenção Precoce na Infância no seguimento destas crianças.

Evaluation of pediatric cochlear implant care throughout Europe: Is European pediatric cochlear implant care performed according to guidelines?

OBJECTIVES: International guidelines indicate that children with profound hearing loss should receive a cochlear implant (CI) soon after diagnosis in order to optimize speech and language rehabilitation. Although prompt rehabilitation is encouraged by current guidelines, delays in cochlear implantation are still present. This study investigated whether European countries establish timely pediatric CI care based on epidemiological, commercial, and clinical data. METHODS: An estimation of the number of pediatric CI candidates in European countries was performed and compared to epidemiological (Euro-CIU), commercial (Cochlear®), and clinical (institutional) age-at-implantation data. The ages at implantation of pediatric patients in eight countries (the Netherlands, Belgium, Germany, the United Kingdom, France, Turkey, Portugal, and Italy) between 2005 and 2015 were evaluated. RESULTS: From 2010 onwards, over 30% of the pediatric CI candidates were implanted before 24 months of age. Northern European institutions implanted children on average around 12 months of age, whereas southern European institutions implanted children after 18 months of age. The Netherlands and Germany implanted earliest (between 6 and 11 months). DISCUSSION: Implemented newborn hearing screening programs and reimbursement rates of CIs vary greatly within Europe due to local, social, financial, and political differences. However, internationally accepted recommendations are applicable to this heterogeneous European CI practice. Although consensus on early pediatric cochlear implantation exists, this study identified marked delays in European care. CONCLUSION: Regardless of the great heterogeneity in European practice, reasons for latency should be identified on a national level and possibilities to prevent avoidable future implantation delays should be explored to provide national recommendations.

Oral sucking habits among children with Down syndrome and cerebral palsy.

AIMS: Identify factors associated with the presence of oral sucking habits among children with Down syndrome (DS) and cerebral palsy (CP). METHODS: The sample consisted of 181 children with DS or CP from two public healthcare institutions that treat children with special needs in the city of Rio de Janeiro, Brazil. The children's mothers answered a questionnaire about the individual and behavioral characteristics and the medical history of their children. The study was approved by the Research Ethics Committee of Universidade Federal de Minas Gerais. RESULTS: The presence of oral sucking habits (bottle feeding and pacifier/finger sucking) was observed in 83.0% of children. Children with artificial sucking habits had a 3.42 times greater chance of having a history of throat infection during the previous 6 months (5.61 to 48). A mother in the group of children with oral sucking habits had a 10.28 chance of not having breastfed her child (2.86 to 36.93). CONCLUSION: The history of throat infections in the preceding 6 months and the lack of breastfeeding were associated with the presence of oral sucking habits in children with DS and CP.

Spectrum and frequency of GJB2 mutations in a cohort of 264 Portuguese nonsyndromic sensorineural hearing loss patients.

OBJECTIVE: To assess the spectrum and prevalence of mutations in the GJB2 gene in Portuguese nonsyndromic sensorineural hearing loss (NSSHL) patients. DESIGN: Sequencing of the coding region, basal promoter, exon 1, and donor splice site of the GJB2 gene; screening for the presence of the two common GJB6 deletions. STUDY SAMPLE: A cohort of 264 Portuguese NSSHL patients. RESULTS: At least one out of 21 different GJB2 variants was identified in 80 (30.2%) of the 264 patients analysed. Two mutant alleles were found in 53 (20%) of these probands, of which 83% (44/53) harboured at least one c.35delG allele. Twenty-seven (10.2%) of the probands harboured only one mutant allele. Subsequent analysis revealed that the GJB6 deletion del(GJB6-D13S1854) was present in at least 7.4% (2/27) of the patients carrying only one mutant GJB2 allele. Overall, one in five (55/264) of the patients were diagnosed as having DFNB1-related NSSHL, of which the vast majority (53/55) harboured only GJB2 mutations. CONCLUSIONS: This study provides clear demonstration that mutations in the GJB2 gene are an important cause of NSSHL in Portugal, thus representing a valuable indicator as regards therapeutical and rehabilitation options, as well as genetic counseling of these patients and their families.

Fractures in children and adolescents with spina bifida: the experience of a Portuguese tertiary-care hospital.

AIM: The morbidity associated with osteoporosis and fractures in children and adolescents with spina bifida highlights the importance of osteoporosis prevention and treatment in these patients. The aim of this study was to examine the occurrence and pattern of bone fractures in paediatric patients with spina bifida. METHOD: We reviewed the data of all paediatric patients with spina bifida who were treated in our centre between 1999 and 2008. RESULTS: One hundred and thirteen patients were included in the study (63 females, 50 males; mean age 10y 8mo, SD 4y 10mo, range 6mo-18y). The motor levels were thoracic in six, upper lumbar in 22, lower lumbar in 42, and sacral in 43 patients. Of the 113 patients, 58 (51.3%) had shunted hydrocephalus. Thirty-six (31.8%) were non-ambulatory (wheelchair-dependent [unable to self-propel wheelchair] n=3, wheelchair-independent [able to self-propel wheelchair] n=33), 13 were partial ambulators, 61 were full ambulators, and three were below the age of walking. Forty-five fractures were reported in 25 patients. The distal femur was the most common fracture site. Statistical analyses showed that patients with higher levels of involvement and in wheelchairs had a significantly increased risk of having a [corrected] fracture (p<0.001). Spontaneous fractures were the principal mechanism of injury, and an association was identified between fracture mechanism, type of ambulation, and lesion level: the fractures of patients with higher levels of motor functioning and those in wheelchairs were mainly pathological (p=0.01). We identified an association between risk of a second fracture, higher motor level lesion, and non-ambulation. There was an increased risk of having a second fracture after a previous spontaneous fracture (p=0.004). INTERPRETATION: Data in this study indicate a high prevalence of fractures in patients with spina bifida.

[Appropriateness of hospitalization in a ward of internal medicine--using the Appropriateness Evaluation Protocol]. / Adequação do internamento num serviço de medicina interna. Utilizando o Appropriateness Evaluation Protocol.

INTRODUCTION: The Appropriateness Evaluation Protocol (AEP) is an instrument to study the appropriate use of hospital beds based in objective criteria that classify a hospital admission as appropriate or inappropriate. OBJECT: Evaluate the appropriateness of hospital admissions and stays of the patients of our Internal Medicine Department using the concurrent version of AEP. METHOD: Transversal study where was evaluated the clinical record of the patients admitted to our Department of Internal Medicine on March 13th of 2003, excluding all these who were admitted the day of the study. We analyzed demographic and clinic parameters and the appropriateness of hospital admission and stay using the AEP. RESULTS: 22 patients fulfilled the inclusion criteria, 54.5% of male gender with a average age of 70.7 years. All the admissions were considered appropriate. The most common criteria was the need of intravenous therapy (100%), followed by the sudden lost of corporal mobility (12.3%). 27.3% of stays were considered inappropriate on the day of the study. The most common criteria of appropriateness was the need of intravenous therapy (93.7%). The most usual reason of inappropriate stay was the existence of planned discharge, but without the order written down in the clinical file (66.7%). CONCLUSIONS: The AEP allows an efficient evaluation of the appropriateness of the hospital admissions and stays in a Health Unit, being used for a better utilization of resources. In our department all admissions were justified and about a quarter of stays were considered inappropriate using the AEP.