Language Delay Research Articles

Speech and Language Delay in Children: Child Neurology Experience

Speech and Language Delay in Children: Child Neurology Experience

Predictive Measures in Child Language Development: The Role of Familial History and Early Expressive Vocabulary.

Prediction of developmental language disorder in children under 3 years of age is challenging. Among early risk factors, research has focused on having a positive familial history (FH+) for language or literacy problems and on late language emergence, that is, late-talker (LT) status. The interaction between these two risk factors and their cumulative effect is still debated. Here, we (a) investigate the effect of FH+ on 24-month language development, (b) test for cumulative effects of FH+ status and early language delay on 36-month language outcomes, and (c) disentangle the direct and indirect effects of familial history (FH) on the language outcome. One hundred eighty-five Italian children were followed up longitudinally between 24 and 36 months of age (64 FH+ and 121 FH-) through parental questionnaires and direct child assessment. At the age of 24 months, the FH+ group showed worse expressive vocabulary and higher prevalence of LT. At the age of 36 months, main effects of LT and FH were identified on lexical and phonological performances, respectively. Interestingly, significant interaction effects were identified on expressive vocabulary and phonological processing. Path analysis highlights that FH had a direct effect on later measures of phonology, whereas its effect on 36-month lexical abilities was indirect, via measures of expressive vocabulary at 24 months. The study suggests specific predictive roles of FH and LT status on language development. Interestingly, FH+ seems to represent an additive risk for LT children. The use of cumulative risk measures is confirmed as a powerful approach to identify those children with the highest probability of developing persistent language difficulties. https://doi.org/10.23641/asha.26790580.

Using a Previsit Questionnaire for Initial Visits in a Pediatric Mitochondrial Clinic: Perspectives of Parents, a Specialty Physician, and a Clinical Coordinator.

Objective: In this study, we assessed the usefulness of a previsit questionnaire for children who were referred for an initial evaluation in a mitochondrial subspecialty clinic. We explored the themes regarding parent's questions, concerns, and goals. We aimed to add to existing knowledge about the usefulness of previsit questionnaires in a pediatric specialty setting from the perspective of parents, the specialist, and the clinical coordinator. Method: We enrolled 25 patients and their parent(s) over 25 months. Questionnaires were completed by the parent(s), the clinical coordinator, and the mitochondrial specialist. Descriptive statistics and thematic analysis were used to summarize results. Results: Parental responses suggested that they are most concerned about their child's clinical problems, communication, language and developmental delays, disease progression and prognosis, understanding mitochondrial disease, quality of life, and physical challenges including muscle and energy problems. Parents felt the previsit questionnaire was very helpful for both the doctor and for themselves to be prepared for their visit. The specialist and the clinical coordinator also found it to be helpful. Parental comments suggested that they felt that writing down the story of their child's life was helpful for the provider, allowed time for reflection, and improved the appointment experience. Some felt it was a difficult or redundant activity. Conclusion: Parents were often pleased to complete the previsit questionnaire. This allowed them to highlight concerns and share information that they wanted the care team to know about their child. We revised the tool based on feedback from parents and the specialist and will continue to use it in our clinic.

Developmental screening of neurodevelopmental disorders before age 6: a nationwide health screening program.

We aimed to investigate the association between developmental screening before 24 months of age and neurodevelopmental disorders (NDDs) at 4-6 years of age. We included 922,899 newborn born between 2014 and 2016 registered in National Health Insurance Service (NHIS). Developmental screening was administered at 9-12 and 18-24 months old with the Korean Developmental Screening Test for Infants & Children (K-DST). Diagnoses of NDDs was based on the World Health Organization's International Classification of Diseases, Tenth Revision (ICD-10), provided by the NHIS database. Among 637,277 individuals who underwent screening at 9-12 and 18-24 months, Screen-positivity (defined as summed score < -2 standard deviation) for gross motor domain at 9-12 months was significantly associated with the incidence of autism spectrum disorder (aHR, 2.24; 95% CI, 1.80-2.80) and cerebral palsy (aHR, 4.81; 95% CI, 3.62-6.38). Screening positive at language domain at 18-24 months old was associated with autism spectrum disorder (aHR 5.50; 95% CI, 4.31- 7.02) and developmental language disorder (aHR 8.67; 95% CI, 7.27-10.33) at 4-6 years of age. Widespread nationwide implementation of screening programs before 24 months was effective in identifying NDDs at 4-6 years of age. Further strategies integrating with referral and intervention systems should be established. We investigated the screening effect of nationwide developmental screening program on neurodevelopmental disorders using nationwide data. Gross motor delay during infancy was significant predictor of later neurodevelopmental disorders. Language, cognitive, and social delay before 24 months of age was associated with later autism spectrum disorders and developmental language disorders. Widespread nationwide implementation of screening programs before 24 months was effective in identifying NDDs at 4-6 years of age and should be encouraged.

Clinical features and genetic analysis of four children with Phelan-McDermid syndrome

To explore the clinical characteristics and genetic etiology of four children with Phelan-McDermid syndrome (PMS). Four children who had visited the Ningbo Women and Children's Hospital between June 2, 2022 and May 8, 2023 were selected as the study subjects. Clinical data of the children were collected. Genomic DNA was extracted from peripheral blood samples of the children and their parents and subjected to whole exome sequencing (WES). Candidate variants were verified by Sanger sequencing and quantitative PCR (q-PCR) analysis. All children had presented with speech and language delays and intellectual disability. Children 3 and 4 also presented with autistic behaviors. WES showed that the children 1 and 2 had respectively carried a heterozygous c.731T>C (p.Leu244Pro) and a c.2782_2851del (p.Gly928ArgfsTer4) variant of the SHANK3 gene. Sanger sequencing confirmed that their parents did not carry the same variant, suggesting that they were de novo in origin. Children 3 and 4 had respectively harbored a 121 Kb and 52.02 Kb heterozygous deletion at chromosome 22q13.33, which had both encompassed the SHANK3 and ACR genes mapped to 22q13.33. q-PCR results showed that the deletion of SHANK3 and ACR genes were de novo in origin. Based on the guidelines from the American College of Medical Genetics and Genomics, the c.731T>C and c.2782_2851del variants were predicted to be likely pathogenic (PS2+PM2_Supporting+PP3) and pathogenic (PVS1+PM2_Supporting+PS2_Supporting), respectively. Furthermore, the 52.02 Kb and 121 Kb heterozygous deletions in 22q13.33 were both predicted to be pathogenic (2D+4C, 1.05 in score; 2D+4C, 1 in score). The four children were all diagnosed with PMS by genetic testing. Above finding has enriched the phenotypic and mutational spectrum of PMS, and provided a basis for clinical diagnosis and genetic counseling for their families.

Executive function performance in persons with non-syndromic cleft lip and palate

Background: Executive functions (EFs) are crucial cognitive functions that mature from birth to adolescence. They are vital for daily task execution and overall success and also influence language and communication development. Children with EFs deficits often experience delays in language and speech abilities. These impairments are particularly prevalent among individuals with cleft lip and palate. Consequently, speech and language pathologists must address these impairments through assessments and interventions. Despite this urgent need for action, there is a scarcity of research on executive function performance in this population in Thailand, prompting an investigation to address this issue. This study explores executive function performance in this population to enhance the quality of life for individuals with cleft lip and palate. Materials and methods: Using a survey-based approach, executive function performance was assessed in 5- to 15-year-old volunteer with non-syndromic cleft lip and palate attending the speech therapy camp provided by the Princess Sirindhorn IT Foundation Craniofacial Center at Chiang Mai University in April 2024. Parents completed the Behavior Rating Inventory of Executive Function (Parent form), with scores ≥65 indicating executive function difficulties. Results: The study involved 29 participants, 14 males (48.28%) and 15 females (51.72%), with a mean age of 8 years and 9 months. Average scores for executive function abilities in BRI, MI, and GEC were 52.21, 56.48, and 58.90, respectively. There are several participants with abnormal executive function in each age group, along with their average T-scores across different domains. Children aged 5, 6-8, and 9-11 have T-scores for executive function performances falling into problematic levels for 1, 2, and 5 individuals, respectively. Conclusion: Most of the sample group demonstrated executive function skills within the normal range. However, a certain number of individuals experienced issues with executive function. These findings offer guidance for speech and language pathologists and emphasize the importance of executive function in individuals with cleft palates.

Enhanced motor noise in an autism subtype with poor motor skills

BackgroundMotor difficulties are common in many, but not all, autistic individuals. These difficulties can co-occur with other problems, such as delays in language, intellectual, and adaptive functioning. Biological mechanisms underpinning such difficulties are less well understood. Poor motor skills tend to be more common in individuals carrying highly penetrant rare genetic mutations. Such mechanisms may have downstream consequences of altering neurophysiological excitation-inhibition balance and lead to enhanced behavioral motor noise.MethodsThis study combined publicly available and in-house datasets of autistic (n = 156), typically-developing (TD, n = 149), and developmental coordination disorder (DCD, n = 23) children (age 3–16 years). Autism motor subtypes were identified based on patterns of motor abilities measured from the Movement Assessment Battery for Children 2nd edition. Stability-based relative clustering validation was used to identify autism motor subtypes and evaluate generalization accuracy in held-out data. Autism motor subtypes were tested for differences in motor noise, operationalized as the degree of dissimilarity between repeated motor kinematic trajectories recorded during a simple reach-to-drop task.ResultsRelatively ‘high’ (n = 87) versus ‘low’ (n = 69) autism motor subtypes could be detected and which generalize with 89% accuracy in held-out data. The relatively ‘low’ subtype was lower in general intellectual ability and older at age of independent walking, but did not differ in age at first words or autistic traits or symptomatology. Motor noise was considerably higher in the ‘low’ subtype compared to ‘high’ (Cohen’s d = 0.77) or TD children (Cohen’s d = 0.85), but similar between autism ‘high’ and TD children (Cohen’s d = 0.08). Enhanced motor noise in the ‘low’ subtype was also most pronounced during the feedforward phase of reaching actions.LimitationsThe sample size of this work is limited. Future work in larger samples along with independent replication is important. Motor noise was measured only on one specific motor task. Thus, a more comprehensive assessment of motor noise on many other motor tasks is needed.ConclusionsAutism can be split into at least two discrete motor subtypes that are characterized by differing levels of motor noise. This suggests that autism motor subtypes may be underpinned by different biological mechanisms.

Serous otitis media as a cause for language delay following cleft palate repair—A case-control study

Background and Objectives: Serous otitis media (SOM), also called otitis media with effusion (OME) or glue ear, is a collection of non-purulent fluid within the middle ear space. Children with cleft palate are more prone to develop this condition. This is caused by impaired eustachian tube function in cleft palate. They may present with hearing loss, delayed speech, and language development or poor social behavior. This is a significant cause of conductive hearing loss in the early speech-forming years of their life. Even after an early surgical repair of palate, speech and language defects are frequently identified during regular postoperative follow-up by speech-language pathologists. When identified, the approach to language delay varies across healthcare systems and includes watchful waiting, providing hearing aids to early otological intervention. The primary objective was to compare the incidence of SOM in children with and without language delay following surgical correction of cleft palate. Materials and Methods: A case-control study involving 63 patients was conducted in a tertiary care hospital with a high-volume cleft lip and palate center from June 2022 to March 2023. Thirty children with language delay were identified and grouped as cases and 33 children without language delay as controls. Tympanogram was conducted after the detailed otoscopic examination. Those with Jerger types B and C were diagnosed with SOM. The incidence of SOM in each group was compared statistically. Results: About 70% of cases and 87.9% of controls had SOM. There is no positive correlation between the incidence of SOM and language delay (P-value &gt; 0.05). Conclusion: SOM cannot be identified as a causal factor for language delay after cleft palate surgery.

The impact of neurosurgery on the neuropsychological development of patients with craniosynostosis: A scoping review

Introduction: Neuropsychological assessment evaluates the cognitive profile by identifying deficits and enabling monitoring. At HRAC-USP, patients with craniosynostoses undergo this assessment due to impacts on neuropsychomotor development (DNPM). These conditions may cause cranial fusion, restricting brain growth and adversely affecting cognitive functions. Evaluation is crucial for guiding therapeutic and surgical approaches and ensuring better outcomes. Objective: To identify how surgical procedures impact the neuropsychological profile of patients with syndromic and isolated craniosynostoses through a scoping review. Methodology: This scoping review was conducted in March 2024 using PubMed, Embase, BVS/Lilacs, and Scopus databases; 1,215 articles were found and 18 original articles (E1-18) in English were selected that addressed the question: "What is the impact of surgery on neuropsychological aspects in patients with craniosynostoses?" Results: Studies on craniosynostosis highlighted the predominance of isolated cases (83.3%), with surgeries performed before one year of age associated with better cognitive outcomes. The cranial expansion technique (38.8%) was effective in non-syndromic cases, while cranial remodeling showed varied results. After surgery, there were overall improvements in DNPM, but also risks of language delay and motor deficits, especially in patients operated on at older ages. Conclusion: Surgery for craniosynostosis can improve neuropsychological outcomes, especially when performed early and with appropriate surgical techniques. More invasive procedures may lead to better outcomes, including increased Total Intelligence Quotient and better academic performance. It is crucial to consider such factors to optimize outcomes, reduce neurodevelopmental risks, and continuously monitor language and executive functions.

Audiophonologopedic Telerehabilitation: Advantages and Disadvantages from User Perspectives.

Technological advancements and the COVID-19 pandemic have highlighted the importance of digital tools for patient care and rehabilitation. This study explores user perspectives on telerehabilitation, comparing it to traditional methods and identifying criteria for determining its suitability for different patients and clinical conditions. This study was carried out during the period of May-September 2021. Questionnaires were administered to 48 users in rehabilitation for audiophonologopedic and neurodevelopmental disorders in three rehabilitation centres in central Italy. The user responses predominantly emphasize the benefits of time saving (68.75%) and cost-efficiency (37.5%), specifically regarding time saving due to travel and expenses incurred to go to where the therapy is carried out. The disadvantages include increased distraction (60.42%) in following the instructions remotely and logistic problems (39.58%). Patients with hearing loss were subjected to a larger number of telerehabilitation sessions, positively rating this alternative method. Patients with speech and language delay and autism spectrum disorder (ASD) prefer traditional treatment. This study reveals a favourable perception of telerehabilitation as a therapy approach to be regarded as a supplement or temporary option to the irreplaceable face-to-face one. More research, as well as a larger sample sizes, will be useful to increase the significance of the correlations reported in this study.

Feasibility and acceptability of a caregiver-mediated early support program, delivered online, for infants at elevated familial likelihood for autism: A feasibility randomized controlled trial.

Preliminary evidence indicates potential benefit of providing caregiver-mediated intervention, prior to diagnosis, for infants at elevated familial likelihood for autism and related developmental delays including language delay (EL-A). However, delivering such interventions online and in low-resource settings like India has not been reported. This study aimed to evaluate the feasibility and acceptability of delivering a novel manualized caregiver-mediated early support program, the "LiL' STEPS," online in India, for EL-A infants. LiL' STEPS stands for Language development & Intervention Lab's (LiL') Supporting Early social-communication and language by Promoting caregiver Sensitive responsiveness (STEPS). The program comprised 14 sessions with a focus on social-communication and language, conducted over 12-weeks using demonstration and video feedback. Families of 36 EL-A infants aged 9 to 15-months participated in this feasibility randomized controlled trial (RCT). Families were randomized in a 2:1 ratio (n = 24 LiL' STEPS and n = 12 care as usual groups). Information on feasibility and acceptability was collated following a mixed methods approach from caregiver interviews, fidelity forms, session notes, and study register. Findings indicated the LiL' STEPS study trial as feasible and acceptable with recruitment rate of 4 per month, 100% willingness for randomization, 8.3% attrition, and 3.03% loss of blinding. Interventionist and caregiver fidelity was maintained above 80%. Despite challenges like interruptions during sessions, 100% families found the program acceptable and satisfactory, 86% said they would recommend the program to others, and 71% preferred online modality. Caregivers' perspectives on beneficial components and experience attending the program have been described. Accordingly, recommendations for future definitive RCTs have been presented.

‘‘Language profile among Arabic-speaking children with attention deficit hyperactive disorder”

BackgroundChildren with ADHD were found to have language impairment in many studies. The way they use language in their everyday life may be affected, namely, the pragmatic aspect of language. Measuring the affected parameters in all aspects of language will help to reach better rehabilitation. Thus, this study set out to observe relationships between hyperactivity/impulsivity and inattention with all language domains in 30 Egyptian Arabic-speaking children with ADHD between 4 and ≤7 years old with the aim of better intervention. Children were evaluated to establish the diagnosis of ADHD and its type following the diagnostic criteria of the DSM-V criteria and the Conners’ Parent Rating Scale-Revised. Language abilities were assessed by the Pre-school Language Scale 4th edition (Arabic version), the Arabic articulation test, and the Egyptian Arabic Pragmatic Language Test. This assessment covered receptive and expressive language abilities and phonological and pragmatic skills. ResultsCompared to norms, it was found that the ADHD children who participated in this study had non-significant language delays in the parameters of the modified PLS-4 test. 70 % of the ADHD children had total pragmatic test scores below their 5th percentile, while 30 % of the children had total pragmatic test scores above their 5th percentile. 50 % of ADHD children failed to master certain sounds corresponding to their phonological age. A statistically significant negative correlation was observed between each of the inattention and hyperactivity/impulsivity scores and the receptive, expressive, total language ages, and pragmatic language scores. ConclusionChildren with ADHD in this study did not show major difficulties in areas beyond what would be expected in normally developing children. Most children with ADHD in the present study had problems with pragmatic language aspects that are correlated positively to ADHD symptoms. 50 % of ADHD children failed to master certain sounds corresponding to their chronological age.

Phenotypes of autism spectrum disorder and schizoaffective disorder associated with SETD1B gene but without intellectual disability and seizures.

The SETD1B gene, located on chromosome 12q24, is one of the chromatin-modifying genes involved in epigenetic regulation of gene transcription. The phenotype of pathogenic variants in the SETD1B gene includes intellectual disability, seizures, and language delay (IDDSELD, OMIM 619000). In this study, we present a family consisting of consanguineous parents who died of cancer and their offspring. This family includes two cases diagnosed with autism spectrum disorder (ASD); six cases diagnosed with schizophrenia, bipolar disorder, or schizoaffective disorder; there cases diagnosed with cancer; and five cases who died of unknown causes in early childhood. Three affected members of this family agreed to genetic testing. We used whole exome sequencing. We report a novel in-frame deletion variant of the SETD1B gene in a family with cases diagnosed with schizoaffective disorder and ASD without seizures and intellectual disability. It was found that the phenotypic features were inherited for at least three generations in the family we presented, and it was shown that the pathogenic variant of the SETD1B gene was transmitted from the affected parent to his affected children. In addition, the father was diagnosed with both schizoaffective disorder and leukemia. We proposed an association between rare variants of SETD1B and phenotypes of ASD and schizoaffective disorder without seizures and intellectual disability. The SETD1B gene is included in both the ASD genetic database of SFARI (https://gene.sfari.org/) and the cancer database of COSMIC (https://cancer.sanger.ac.uk/cosmic). However, there are very few reports of SETD1B gene variants as clinical entities. To our knowledge, the SETD1B gene variant has not been previously reported in an individual diagnosed with both a neuropsychiatric disorder and cancer.

Mice lacking Astn2 have ASD-like behaviors and altered cerebellar circuit properties

Astrotactin 2 (ASTN2) is a transmembrane neuronal protein highly expressed in the cerebellum that functions in receptor trafficking and modulates cerebellar Purkinje cell (PC) synaptic activity. Individuals with ASTN2 mutations exhibit neurodevelopmental disorders, including autism spectrum disorder (ASD), attention-deficit/hyperactivity disorder (ADHD), learning difficulties, and language delay. To provide a genetic model for the role of the cerebellum in ASD-related behaviors and study the role of ASTN2 in cerebellar circuit function, we generated global and PC-specific conditional Astn2 knockout (KO and cKO, respectively) mouse lines. Astn2 KO mice exhibit strong ASD-related behavioral phenotypes, including a marked decrease in separation-induced pup ultrasonic vocalization calls, hyperactivity, repetitive behaviors, altered behavior in the three-chamber test, and impaired cerebellar-dependent eyeblink conditioning. Hyperactivity and repetitive behaviors are also prominent in Astn2 cKO animals, but they do not show altered behavior in the three-chamber test. By Golgi staining, Astn2 KO PCs have region-specific changes in dendritic spine density and filopodia numbers. Proteomic analysis of Astn2 KO cerebellum reveals a marked upregulation of ASTN2 family member, ASTN1, a neuron-glial adhesion protein. Immunohistochemistry and electron microscopy demonstrate a significant increase in Bergmann glia volume in the molecular layer of Astn2 KO animals. Electrophysiological experiments indicate a reduced frequency of spontaneous excitatory postsynaptic currents (EPSCs), as well as increased amplitudes of both spontaneous EPSCs and inhibitory postsynaptic currents in the Astn2 KO animals, suggesting that pre- and postsynaptic components of synaptic transmission are altered. Thus, ASTN2 regulates ASD-like behaviors and cerebellar circuit properties.

Utility of Diffusion Tensor Imaging in Preterm Infants with Germinal Matrix Hemorrhage and Intraventricular Hemorrhage: A Systematic Review

IntroductionIntraventricular hemorrhage (IVH) and germinal matrix hemorrhage (GMH) are the most common brain injuries in preterm infants. Neonates with these injuries are at greater risk of impaired neurodevelopmental outcome. Current guidelines recommend screening infants with cranial ultrasound (CUS), although this is prone to missing subtle injury patterns, particularly within the posterior fossa. The present report sought to discuss the utility of diffusion tensor imaging (DTI) in preterm infants. MethodsA systematic review of PubMed, Ovid MEDLINE, and Ovid EMBASE was conducted following the Preferred Reporting Items for Systematic Reviews and Meta-Analyses guidelines. Included manuscripts were methodically scrutinized for quality; DTI use; neurologic outcome. ResultsTwenty studies with 1574 infants who underwent DTI were included. There were 574 preterm infants with GMH-IVH on DTI. Twelve studies documented decreased fractional anisotropy (FA) while six demonstrated structural segregation and asymmetrical white matter myelination in these infants. Seven studies documented concurrent CUS use with two studies comparing DTI findings to CUS findings. In both studies, DTI more accurately detected presence of GMH, especially within the cerebellum. Among GMH-IVH preterm infants, 58.5% demonstrated cognitive, intellectual, and language delays at follow-up (mean: 32.4 months). Additionally, lower FA values on initial DTI were associated with cognitive, language, and motor delays. ConclusionAlthough DTI is more sensitive for picking up subtle injury patterns, CUS remains the standard of care when screening for injuries that would necessitate surgical intervention. DTI offers a refined understanding of the sequelae of GMH-IVH with microstructural changes found on DTI being associated with childhood motor and cognitive outcomes.

A Comparison of Parent-Reported Severe Autism With Mild/Moderate Autism Among US Children.

An expert commission has proposed the term "profound" autism for children on the spectrum who are minimally verbal or nonverbal and have intellectual disability (ID), behavioral challenges, and co-occurring conditions. It is unknown whether parents' rating of "severe" autism aligns with the definition of "profound" autism. Using the National Survey of Children's Health, we sought to (1) estimate the prevalence of parent-reported severe autism, (2) identify child characteristics that are associated with severe autism, (3) compare health care utilization, and (4) compare caregiver stress and resilience between families of children with severe versus mild/moderate autism. Parent responses on the 2018 to 2019 NSCH were used to compare school-age children with parent-reported severe autism and those with mild/moderate autism. Descriptive statistics, χ 2 tests, and logistic regression were used for statistical analysis. Among parents of 1,368 US children with autism, 10.1% characterized their child's autism as severe, a prevalence of 1 in 333. Parents of children with severe autism were more likely to report ID (45% vs 12.1%, p < 0.001), language delay (88% vs 58.7%, p < 0.001), and difficulties in dressing and bathing (67% vs 19.2%, p < 0.001). Children with severe autism had more behavioral problems and co-occurring conditions but were no more likely to see specialists or receive autism-specific behavioral therapy. Their caregivers reported more stress and less resilience. The characteristics of "profound" autism and parent-reported "severe" autism significantly overlap, allowing the use of the NSCH for studies of this vulnerable population. Children with profound/severe autism could benefit from more behavioral therapy, specialty care, and family support.

Long-term outcomes of congenital cytomegalovirus infection in children early identified by extended hearing-targeted screening

ObjectivesCongenital Cytomegalovirus (cCMV) has been associated with hearing, vision, and neurodevelopmental long-term sequelae. Despite the social burden associated with the disease, a universally accepted consensus on screening, diagnostic, therapeutic and follow-up approaches has not been reached. The present observational retrospective study aims at describing long-term sequelae and radiological abnormalities associated with cCMV in children early identified by extended hearing-targeted screening and evaluated by audiological follow-up in a single III Level Audiological Referral Center for at least 2 years. MethodsAudiological neonatal and follow-up data were available for all subjects. Data collection included clinical neonatal and virological assessment at birth. Ophthalmological, neurodevelopmental and neuroradiological follow-up abnormalities compatible with cCMV sequelae were collected by clinical reports. Spearman's rank correlation coefficient (rho-ρ) was used to evaluate possible correlations among the considered parameters. Results61 newborns were identified by extended hearing-targeted cCMV screening and diagnosed mostly (83.6 %) by PCR viral DNA extraction in urine collected within the 15° day of life. Seventeen babies were born preterm, with a mean gestational age of 33.5 weeks. Sixteen patients (26.2 %) were admitted to an Intensive or sub-Intensive Neonatal Care Unit. At birth, 35 newborns were symptomatic (57.3 %), and 19 of them received antiviral treatment by valganciclovir or ganciclovir. Overall, 20 children (32.7 %) were diagnosed with sensorineural hearing loss (SNHL), among them 17 (85 %) were refer at the newborn hearing screening while 3 (15 %) were Pass. 5/20 children (25 %) presented isolated SNHL, while in 15/20 (75 %) children SNHL was associated to other long-term sequelae. In 5 patients (25 %) a progression of the hearing threshold was observed, with a mean age of progression of 26 months of age. Risk factors for progression were a worse final hearing threshold (Spearman's ρ = 0.434; p = 0.0001) and a worse hearing threshold at birth (Spearman's ρ = 0.298; p = 0.020). Thirteen children were fitted with hearing aids, 8 of whom subsequently underwent cochlear implantation. Concerning long term impairments, 10/61 children (17 %) presented a variety of ophthalmological sequelae, while 16/40 cCMV patients (40 %) were diagnosed with neurodevelopmental abnormalities. Language delays were significantly associated with a worse hearing threshold (ρ = 0.582; p = 0.0001) and with other neurocognitive abnormalities (ρ = 0.677, p = 0.0001). 30 children underwent radiological brain evaluation by Magnetic Resonance Imaging, and 63.3 % of them presented abnormalities compatible with cCMV. Mean viral load at birth did not show significant associations with long-term sequelae. ConclusionsThe study highlights the diverse and significant long-term sequelae of cCMV infection detected through early screening. With a significant proportion of cCMV children developing sensorineural hearing loss, ophthalmological and neurodevelopmental issues, the results emphasize the importance of continuous, multidisciplinary follow-up. Early identification and tailored interventions are crucial for improving the long-term health and quality of life of children affected by cCMV.

Teletherapy to address language disparities in deaf and hard-of-hearing children: study protocol for an inclusive multicentre clinical trial

IntroductionChildren who are deaf or hard-of-hearing (DHH) are at risk for speech and language delay. Language outcomes are worse in DHH children from lower socioeconomic backgrounds, due in part to...

Is language a barrier in the management of acute appendicitis?

BackgroundLanguage preference is a contributing factor for prolonged time from symptom onset to appendectomy within pediatrics, but is poorly characterized in adults. We aimed to investigate associations between language barriers and delays in assessment and treatment for adults with acute appendicitis. MethodsIn a multiethnic community, patients aged ≥18 years old who underwent appendectomy were identified between January 2017 and August 2022 at a single institution. Negative binomial regression was used to compare interval wait times to imaging, medication administration, and surgical evaluation between patients with limited English proficiency and those who are English proficient. ResultsOf the 1469 patients included, 48% (n = 699) were with limited English proficiency. Average age was higher for patients with limited English proficiency (45 vs 36, P < .001). Most of them were Asian (54%) and without private insurance (65%, P < .001). Symptom duration, incidence of septic shock, and date/time of presentation to the emergency department were similar. Patients with limited English proficiency presented more frequently with gangrenous appendicitis (20% vs 15%, P = .013) but not perforated (23% vs 20%, P = .065). They experienced longer wait times for surgical evaluation (376 vs 348 min, incidence rate ratio [IRR], 1.08; P = .002) but similar times for imaging, and medications administered. After controlling for demographics, triage acuity, and hospital factors, significantly longer wait times for surgical evaluation persisted (IRR adjusted, 1.07; P = .038). There was no significant difference in hospital length-of-stay, postoperative infection, or 30-day readmission rate. ConclusionAdult patients with limited English proficiency may experience longer wait times for surgical evaluation for acute appendicitis, but this may not result in clinically significant delays in the initiation of treatment.

Assessment of the diagnostic utility of the electroencephalogram in pediatric emergencies

IntroductionWe analyze the diagnostic utility of urgent EEG (electroencephalogram) performed in children under 16 years of age in our center. Material and methodsDescriptive, retrospective, observational study of consecutive patients from 0 to 16 years of age, who underwent an urgent EEG for any reason, from January to December 2022. ResultsOf the 388 patients, 70 were children: 37 (52.85%) women, and 33 (47.14%) men. Average age: 6.27 ± 4.809. Of the 70 patients, 6 (8.57%) had previous epilepsy. Reasons for consultation: 17 febrile seizures, 10 first focal seizures, 10 first TCG seizures, 6 paroxysmal episodes, 6 absences, 3 myoclonus of extremities, 3 syncope, 2 SE, 2 visual alterations, 2 low level of consciousness, 2 cyanosis, 2 suspected meningitis or encephalitis, 1 choking, 1 atypical headache, 1 chorea, 1 presyncope, 1 language delay. Of the 70 patients, 47 had a normal EEG (67.14%). Of the 47 patients with a normal EEG, 10 were diagnosed with epilepsy, and 3 of them began receiving antiepileptic treatment upon discharge. None of the patients with suspected syncope or paroxysmal disorder (17 patients, 24.28%) had EEG abnormalities. Of the 17 patients with atypical febrile seizures, 3 had EEG abnormalities. ConclusionsA third of the EEG records performed in the Emergency Department showed alterations, probably due to the time taken. Almost half of the patients with suspected epilepsy or EE showed EEG abnormalities, which confirmed the diagnosis in these cases and encouraged the clinician to start drug treatment. No case with a high suspicion of epilepsy was dismissed due to the normality of the EEG recording in our series. No patient diagnosed with syncope or paroxysmal disorder had EEG abnormalities. Nearly a quarter of patients with atypical febrile seizures showed EEG abnormalities. We barely register cases of status epilepticus, probably due to the degree of complexity of our center.