Delayed Language Development Research Articles

Efficacy of vitamin/mineral supplement on children with Down syndrome and autism spectrum disorder

Objectives The management of language deficits and therapeutic efficacy of micronutrients supplementation in improving presentations in Down syndrome (DS) and autistic children are very challenging. The aim of this open-label study is to explore the effect of micronutrients supplementation together with language stimulating environment on language abilities, the severity of autism spectrum spectrum (ASD) presentations, and on serum levels of some micronutrients and serotonin in these children. Methods DS and autistic children (N = 57) who presented with intellectual disability and developmental language delay were subjected to assessment of the language abilities, severity of autism in ASD participants, in addition to measuring of serum levels of iron, magnesium, B6, B12, and serotonin level by ELISA before and after 16 wk of an oral once-per-day dietary supplementation, together with a home-based language stimulation. The supplement included vitamins (B complex, E, C), trace minerals (Iron, magnesium, zinc), and other nutrients. Results All the participants showed improved language abilities (p = 0.01). Autistic children showed reduced autism severity (p = 0.005). Increased levels of iron, magnesium, vitamin B6, and serotonin in the serum after supplementation have been observed (p ≤ 0.05). Conclusions This research provides further support for the benefits of dietary supplementation with home-based language stimulation for DS and autistic children.

Epileptic encephalopathy, autism and cognitive deficit caused by the SYNGAP1 gene mutation

The paper analyzes data from scientific publications and presents a clinical case study of a rare genetic epileptic encephalopathy caused by a mutation in the SYNGAP1 gene. The case study focuses on a 4-year-old girl who has been diagnosed with epileptic encephalopathy due to the mutation. The paper describes the anamnesis of the child’s illness, including family history, neurological, neuropsychological, and speech assessments, as well as the results of genetic testing, electroencephalography, and magnetic resonance imaging (MRI). The findings indicate that the main symptoms of the condition are typically epilepsy, autism spectrum disorder, difficulty with phrasal speech, and mental retardation. Common types of seizures include atypical absence seizures, myoclonic seizures, atonic seizures, and eyelid myoclonia with absences. On the electroencephalogram, there is a slowdown in occipital activity and diffuse, prolonged «peak-polypic-slow-wave» complexes. Pathognomonic neuroimaging changes in the brain are typically absent. Valproic acid, levetiracetam, and ethosuximide have been shown to be the most effective treatments for controlling epileptic seizures. Due to the rarity of this syndrome, the authors have provided a detailed clinical case report from their practice.Conclusion. SYNGAP1-related epileptic encephalopathy has a specific clinical presentation, including characteristic EEG findings and a particular pattern of seizures. The diagnostic approach for children with this condition, autism spectrum disorder, and delayed language development should include video electroencephalography with sleep deprivation, as well as genetic testing if necessary, using next-generation sequencing, to ensure early detection and appropriate treatment planning.

Postnatal depressive symptoms in mothers of infants at high risk of cerebral palsy: the role of delayed infant communicative development

Purpose Recent diagnostic advantages enable detection of cerebral palsy (CP) in infants before five months of age. Parents of children with CP often face mental health problems, but specific knowledge for infancy is needed. In this study, depressive symptoms in mothers of 16-week-old infants and associations with infant development were investigated. Materials and methods This cross-sectional study involves 56 families, 22 high-risk and 34 infants without risk of CP. High-risk-CP was identified following international clinical guidelines. We assessed infant cognitive and language development using the Bayley-III and motor development using the Alberta Infant Motor Scale. Maternal depressive symptoms were self-reported using the Edinburgh Postnatal Depression Scale. Results Mothers of CP high-risk infants were 15.6 times more likely to experience risk of postnatal depression compared to mothers of infants without risk. Additionally, linear regression analyses showed that having an infant at high-risk of CP (β = .359, p = .006) and delayed language development (β = −0.510, p < .001) were associated with increased maternal depressive symptoms. Conclusions We recommend systematic screening of postnatal depressive symptoms following detection of high-risk-CP in infants. Early interventions could include a mother-infant interactional component to support caregivers in interpreting and responding to infant communicative cues.

Persistence of the developmental language disorder diagnosis, neurodevelopmental trajectories and attendance at offered interventions.

To study the diagnostic stability of developmental language disorders, other neurodevelopmental disorders and interventions received until age 6 years in children who screened positive for language delay, but not for autism, at age 2.5 years. In 2016, in Gothenburg, Sweden, 100 monolingual or multilingual children underwent language assessment at a mean age of 2.9 years. At age 6 years, 85 of these children underwent language assessment. A review of paediatric records was performed after the clinical assessment to obtain information about other neurodevelopmental disorders and interventions received. At age 6 years, 74/85 (87%) of the children had persistent language disorders, and 20/85 (24%) had been diagnosed with at least one additional neurodevelopmental disorder. Five of them had autism. In general, families only attended half of the offered intervention sessions irrespective of intervention type and no difference between monolingual and multilingual families was found. The persistence of language disorder and the presence of later additional neurodevelopmental disorders highlight the importance of longitudinal and multidisciplinary monitoring of children with delayed language development. Further studies and analyses are warranted to investigate the reasons behind the poor attendance rate for interventions offered.

Factors associated with language development delay of early childhood: Analysis of health checkup questionnaire for children

Objectives Language development is assessed in health checkups for children aged 18 and 36 months in public health centers to identify those with language delay and promote language development in early childhood. This study examines factors associated with language development to provide parents with evidence-based information.Methods We used the data from the health checkup questionnaire filled by parents of 18- and 36-month-old children born between April 2019 and March 2020 and undergone 18- and 36-month health checkups by March 2023 in Yokohama city, Japan. The sample included 12,710 children. Language delay was defined as the inability to speak at least three words and three-word sentence for 18- and 36-month-old children, respectively. Bivariate and multivariate logistic regression were applied to assess the odds ratios (OR) for language delay in 18 and 36 months and associated factors; birth order, weeks of birth, mother's age, and existence of a ternary relationship in 18 months. Moreover, we assessed the OR for language delay in 18 and 36 months to understand the language development in early childhood.Results Language delay was observed in 17.5% and 6.7% of 18- and 36-month-old children, respectively. Multivariate logistic regression analysis revealed significant associations of language delay in 18-month-old children and assessed factors; first-born children (OR; 1.39 [1.25-1.53]); preterm birth (OR; 1.80 [1.46-2.21]); and pregnancy at age ≥ 35 years (OR; 1.24 [1.12-1.37]), but no significant associations of language delay in 36-month-old children and these factors. Language delay in 18- and 36-month-old children were significantly associated, adjusting for potential confounders (OR; 6.81 [5.79-8.00]).Conclusion Children's background since birth should be checked to assess 18-month language development during health checkups. Children with language development delay at 18-month health checkups should be identified and followed for further support.

Hypermethioninemia due to methionine adenosyltransferase I/III deficiency and brain damage

Background and objectivesMethionine adenosyltransferase I/III deficiency used to be considered a relatively benign disease. This study aims to elucidate the clinical characteristics of methionine adenosyltransferase I/III deficiency patients with neurological manifestations.MethodsThe clinical data, blood amino acids, plasma total homocysteine, gene variants, brain imaging, treatments and outcomes of 15 patients with methionine adenosyltransferase I/III deficiency were retrospectively analyzed.ResultsOf these 15 patients, 10 demonstrated neurological abnormalities, with delayed language development, learning difficulties or abnormal brain imaging findings. Eleven patients were identified by newborn screening. Patients with demyelination showed significantly higher blood methionine concentrations at baseline (1102 vs. 396 µmol/L), and their blood methionine remained markedly elevated despite a low-methionine diet. Their plasma total homocysteine was normal to moderate elevated. One patient underwent liver transplantation aged 8 years, which reduced his serum methionine concentration to normal. Compound heterozygous and homozygous MAT1A variants were identified from the patients. Among the 21 variants observed, nine have been reported previously, while 12 were novel.ConclusionsMethionine adenosyltransferase I/III deficiency is not just a benign disease. Severe persistent hypermethioninemia can cause brain injuries, especially in the white matter. Liver transplantation may be a potential treatment option for refractory methionine adenosyltransferase I/III deficiency.

Strategies to support language development in neonatal intensive care unit: a narrative review.

Despite neonatal intensive care advancements and quality improvements, preterm infants often experience delays in speech and language development during early childhood. The etiological pathway of language delays is multifactorial, including younger gestational age at birth, male sex, pregnancy complications including gestational diabetes mellitus and preeclampsia, organic pathology from neonatal morbidities, environmental factors of the neonatal intensive care unit (NICU) and prolonged hospitalization, home environment including socioeconomic status and parental education, and parent-infant interactions. As early language experiences and environments are crucial for the development of language processing, strategies to support language development should be implemented from the NICU onward. This study aimed to summarize evidence-based strategies for language development through an extensive review of nutrition, NICU environment, language and sound exposure, developmental care interventions, and family-centered care. Promoting breastfeeding, increasing parent-infant interactions in a single-family room setting, nurturing the language environment via parental book reading and language interventions, and parent-integrated interventions in the NICU could potentially enhance language development among preterm infants. These supportive strategies can be integrated through family-centered care, which recognizes parents as primary caregivers and collaborative partners.

A rare genetic association of one silent (ADGRV1) and other unquiet (MED13L) mutation: A case report

Two genes likely to cause epilepsy, one silent and the other manifesting in a patient with drug-resistant epilepsy, can be quite unusual. Herein, we described the case of a 2-year-old girl who presented with predominant language development delay, facial dysmorphism, and refractory epilepsy with normal neuroimaging and metabolic profiles, which prompted us to consider genetic etiology. Her genetic test revealed two novel likely pathogenic mutations, in Mediator complex subunit 13-like (MED13L) and adhesion G protein-coupled receptor V1 (ADGRV1). Sanger sequencing of her parents revealed an ADGRV1 variant in her unaffected mother. The child had a phenotypic match with the MED13L genotype. However, only a few cases of MED13L have reported refractory epilepsy and the corresponding mutation was missense. To the best of our knowledge, this is the first case of frameshift mutation in MED13L presenting with refractory epilepsy. Although the child harbored two likely pathogenic mutations, the one inherited from her mother in ADGRV1 did not manifest, whereas the frameshift mutation in MED13L had expressed as refractory epilepsy, which has not been described hitherto.

Data-driven prediction of early language delay at Youth Health Care Services in the Netherlands

Abstract Introduction Language development in early childhood significantly impacts future academic success, social interaction, and emotional well-being. This study aimed to develop and evaluate a prediction model using data on developmental milestones and parents’ socio-economic background known at age 2, and translate the results into an interactive digital dashboard and pilot it with Youth Health Care (YHC) professionals and parents. Methods A mixed-method study on retrospective cohort of children attending YHC at age 2, followed up until age 4. Data on language development, gender, parental education, and home language environment were obtained from YHC digital dossiers and linked to parental socio-economic status characteristics, and perinatal outcomes and healthcare costs using a secure remote access environment of Statistics Netherlands. Random forest and logistic regression models were computed with language development at age 4 as an outcome, initially using all available data at age 2 as predictors and then with a restricted model using variables readily available in YHC settings. Models performance was assessed using sensitivity, specificity, and AUC value. Results were visualized through an interactive dashboard and pilot-tested in simulated consultations. Results Among 9,148 children, 13.2% had language development delay at age 4. The full model had an AUC of 0.78, while the restricted model (gender, parental education, language environment, and language development), achieved an AUC of 0.77. YHC professionals and parents recognized the value of individualized, data-driven risk assessment for potential language delay to stimulate the discussion of preventive interventions. Conclusions A good quality prediction model for language development at age 4 can be derived from just a few background characteristics of the child and parents at age 2. The digital dashboard presents a practical approach of integrating prediction model results into daily YHC practice. Key messages • Language development at age of 4 can be predicted as early as age of 2 using just a few background characteristics of child and parents, which presents a window of opportunity for prevention. • The digital dashboard presents a practical approach of integrating prediction model results into preventive care practice.

The clinical and genetic spectrum of paediatric speech and language disorders.

Speech and language disorders are known to have a substantial genetic contribution. Although frequently examined as components of other conditions, research on the genetic basis of linguistic differences as separate phenotypic subgroups has been limited so far. Here, we performed an in-depth characterization of speech and language disorders in 52 143 individuals, reconstructing clinical histories using a large-scale data-mining approach of the electronic medical records from an entire large paediatric healthcare network. The reported frequency of these disorders was the highest between 2 and 5 years old and spanned a spectrum of 26 broad speech and language diagnoses. We used natural language processing to assess the degree to which clinical diagnoses in full-text notes were reflected in ICD-10 diagnosis codes. We found that aphasia and speech apraxia could be retrieved easily through ICD-10 diagnosis codes, whereas stuttering as a speech phenotype was coded in only 12% of individuals through appropriate ICD-10 codes. We found significant comorbidity of speech and language disorders in neurodevelopmental conditions (30.31%) and, to a lesser degree, with epilepsies (6.07%) and movement disorders (2.05%). The most common genetic disorders retrievable in our analysis of electronic medical records were STXBP1 (n = 21), PTEN (n = 20) and CACNA1A (n = 18). When assessing associations of genetic diagnoses with specific linguistic phenotypes, we observed associations of STXBP1 and aphasia (P = 8.57 × 10-7, 95% confidence interval = 18.62-130.39) and MYO7A with speech and language development delay attributable to hearing loss (P = 1.24 × 10-5, 95% confidence interval = 17.46-infinity). Finally, in a sub-cohort of 726 individuals with whole-exome sequencing data, we identified an enrichment of rare variants in neuronal receptor pathways, in addition to associations of UQCRC1 and KIF17 with expressive aphasia, MROH8 and BCHE with poor speech, and USP37, SLC22A9 and UMODL1 with aphasia. In summary, our study outlines the landscape of paediatric speech and language disorders, confirming the phenotypic complexity of linguistic traits and novel genotype-phenotype associations. Subgroups of paediatric speech and language disorders differ significantly with respect to the composition of monogenic aetiologies.

Neuroradiologic, clinic and genetic characterization of cerebellar heterotopia: a pediatric multicentric study.

Background and purpose:Cerebellar heterotopia (CH) is a neuroradiological abnormality poorly reported and investigated in the literature. It can be observed as an isolated finding, but it has been mainly reported in the context of cerebellar dysgenesis and in syndromic conditions. The aim of this study is to provide a comprehensive neuroradiological, clinical, and genetic characterization of a cohort of pediatric patients with cerebellar heterotopia.Materials and methods:Patients with a diagnosis of CH were systematically selected from the neuroimaging databases of the four Italian Centers participating in this retrospective study. For each patient, information regarding demographic, clinical, genetic and neuroradiological data were collected.Results:Thirty-two pediatric patients were recruited and subdivided into two groups: patients with isolated CH and/or cerebellar malformations (n= 18) and patients with CH associated with cerebral malformations (n=14). Isolated CH consistently showed a peripheral subcortical localization in the inferior portion of cerebellar hemispheres, with either unilateral or bilateral distribution. Ten patients belonging to the second group had a diagnosis of CHARGE syndrome, and their nodules of CH were mainly but not exclusively bilateral, symmetric, located in the peripheral subcortical zone and in the inferior portion of the cerebellar hemispheres; the remaining 4 patients of the second group, showed either bilateral or unilateral CH, located in both peripheral cortex and deep white matter and in the superior and inferior portions of cerebellum. Patients with isolated CH showed high prevalence of language development delay; neurodevelopmental disorders were the most represented clinical diagnoses. Recurring features were behavioral problems and motor difficulties. A conclusive genetic diagnosis was found in 18/32 patients.Conclusions:We found distinctive neuroradiological patterns of CH. Genetic results raise the possibility of a correlation between cerebellar morphological and functional developmental disruption, underscoring the importance of CH detection and reporting to orient the diagnostic path.Abbreviations CH Cerebellar heterotopia; MRI Magnetic resonance imaging; CC Corpus callosum; ASD autism spectrum disorder; IVH inferior vermian hypoplasia.

Recurrent acute kidney injury is associated with delayed language development in infants with Congenital Heart Disease.

Neurodevelopmental delay is common in children who undergo surgery for Congenital Heart Disease (CHD) in infancy. Cardiac surgery associated acute kidney injury (CS-AKI) occurs frequently in the paediatric cardiac Intensive care unit (ICU). Cardiac surgery associated acute kidney injury (CS-AKI) is associated with worse neurodevelopmental scores and delay in cognitive, language, and motor domains in children with CHD. No known data exist regarding the association of CS-AKI and motor and language subscales. In this study, we explored the relationship between CS-AKI and receptive and expressive language, as well as gross and fine motor delay. This was a single centre retrospective observational cohort study. Children who underwent surgery for CHD and developed recurrent CS-AKI in the first year of life who had follow-up neurodevelopmental testing using the Bayley Scale of Infant Development Version III were included. Neurodevelopmental delay subscales assessed included: receptive and expressive language, fine and motor skills. The study cohort included 203 children. Recurrent CS-AKI was significantly associated with lower scores in receptive and expressive language, as well as fine and gross motor on unadjusted analyses. On adjusted analyses, recurrent CS-AKI was significantly associated with severe receptive language delay. The independent association of recurrent CS-AKI with severe language delay in children who undergo surgery for CHD in infancy is novel. Our findings may contribute to the understanding of language impairment in this population. Further studies are required to better understand this relationship and any potentially modifiable factors.

7341 Establishing a Multidisciplinary Care Program for patients with Klinefelter Syndrome and other Aneuploidy X and Y Variations

Abstract Disclosure: C.J. Romero: None. N.R. Malhotra: None. A. Norris-Brilliant: None. C. Mintz: None. Objectives: Klinefelter syndrome (KS) is one of the most common genetic aneuploidies denoted by a XXY karyotype and affects up to 1 in 600 patients. Most patients are not diagnosed until adolescent years or adulthood. KS is one of the leading causes of male infertility and testosterone insufficiency. KS is also associated with developmental delays, particularly speech and language delay. Advances in genetics screenings has led to early identification of KS and other aneuploidy X and Y variations, access to neurodevelopmental screening and fertility preservation resources during adolescence and young adulthood. We believe a multidisciplinary program for KS can provide the necessary resources for patients and families at any age from infancy to young adulthood. Methods: A group of faculty from the divisions of pediatric endocrinology, genetics, urology and psychiatry assembled in 2023 to establish a multidisciplinary clinic (MDC) to provide comprehensive care to patients/parents; this ranged from prenatal diagnosis to young adulthood. Two major challenges of care are access to neuro-psychological evaluations and fertility preservation options. Testosterone supplementation requires appropriate referral to endocrinology and timing of treatment remains controversial. Our goals include: expertise guidance and planning after prenatal diagnosis or later in age; access to cost effective neuro-psychological testing during early childhood years; urological consultation beginning in early puberty to educate and prepare patients for choices of surgical and non-surgical options of fertility preservation. Results: Our current center cares for 12 patents ranging from ages 3 months to 21 years. Of this cohort, 3 (25%) of the patients had initial consultations with the parents during pregnancy. 7 (58%) of the patients were of pubertal age that one would consider testosterone replacement, but only 3 (43%) were taking testosterone. Only 1 patient of school age reported neuro-psychological evaluation that was completed at a different institution. No patients received testosterone supplementation during year one of life. Conclusions: A multidisciplinary team can offer simultaneous assessment, anticipatory guidance and management for KS patients and their families. It is a comprehensive resource to our community. Prenatal genetic screenings bring awareness to this diagnosis and therefore timely education toward understanding the lifelong management of KS. Identifying developmental delays early in childhood will help with scholastic success. Monitoring of pubertal development will ensure appropriate pubertal progression in addition to education and management of fertility preservation. Undoubtedly future urological advances will assist patients more effectively. We believe our model provides the access to resources that allow our patients and family to successfully thrive. Presentation: 6/2/2024

The impact of environmental factors on Egyptian children with delayed language development

BackgroundThe current study was aimed at constructing a questionnaire for evaluating the role of variant environmental factors on language acquisition in the three surrounding levels of communication that include familial level, preschool or nursery level, and surrounding social environmental level among children with delayed language development (DLD) due to environmental deprivation. The current study was a retrospective case–control study that was performed on 100 Egyptian Arabic-speaking children aged from 2 to 5 years. The study was carried out among preschool age children in the Mansoura governmental and private preschools (53 males and 47 females). They were divided into 2 groups: Group I (case group) consisted of 50 children with DLD due to environmental deprivation, and group II (control group) consisted of 50 typically developed children.ResultsThe present study demonstrated several factors for prediction of DLD due to environmental deprivation. Univariable analysis revealed multiple factors as number of hours that parents present at home, time of the mother’s job, the relation between the child and the mother, the parents select certain time to talk and play with their child, joint attention of the mother, mother asking her child what he wants, long time using multimedia, divorce as a traumatic stress, bad social performance, and low socioeconomic status. Multivariate analysis revealed that longer time of the mother’s job and less time the mother select to talk and play with her child were the environmental deprivation factors which had the most precipitating effect on predicting DLD.ConclusionsThe constructed Arabic questionnaire was proved to be valid, reliable, and homogenous and is likely to produce consistent responses in evaluating the variant environmental factors on language development among children with DLD due to environmental deprivation in the three surrounding communications levels.

The Sensitivity and Specificity of the Korean-Infant and Toddler Checklist in Screening for Developmental Language Delay in Infants and Toddlers

Objectives: This study aimed to investigate the validity of the Korean-infant and toddler checklist (K-ITC) in screening for developmental language delay through analysis of sensitivity and specificity.Methods: Participants were 39 infants with developmental language delay aged 6-24 months, and 39 typically developing infants matched for chronological age. Total scores and scores from three domains (social, speech, and symbolic) of the K-ITC were compared between the two groups using independent samples t-tests. Receiver operating characteristic (ROC) analysis was conducted to assess the sensitivity and specificity of each score, confirming the validityResults: Infants with developmental language delay scored significantly lower than typically developing infants on the social and speech domains of the K-ITC, but not on the symbolic domain. ROC analysis indicated significant area under the curve (AUC) values for total scores and scores from each domain, with sensitivity of 95% for total scores and 87.18% for domain scores, and specificity of 64.10% for total scores. Sensitivity was notably higher compared to specificityConclusion: This study confirms that the K-ITC exhibits high sensitivity as a screening tool for developmental language delay in infants, demonstrating validity in significantly identifying developmental delays in infants and toddlers.

Satisfaction and Effectiveness of Telepractice for Parents of Young Children with Language Delay

Objectives: This study aims to provide parent teaching techniques to mothers of 2-3-yearold children with language developmental delays via telepractice and to analyze the effectiveness and participant satisfaction. The training focuses on techniques to promote language development in their children.Methods: The study involved training and coaching seven mothers in parallel talk, self-talk, mand-model and time delay techniques via telepractice. The interactions between mothers and children were recorded at home and analyzed to observe changes in mothers’ use of the techniques and the characteristics of children’s speech. After completing the training-coaching procedure, a satisfaction survey was conducted among the participants.Results: Most participants showed improvement in the production rate per utterance and the total frequency of the techniques after the telelpractice for parent training and coaching. The children also exhibited more diverse types of utterances and increased production rates and frequencies following their mothers’ improvements. The satisfaction with remote parent training was reported to be high.Conclusion: The results of this study suggest that for parent intervention, training and coaching via telepractice can be an effective alternative for educating parents of young children with language developmental delays, enabling them to engage in interactions that promote their children’s language development.

Electroencephalographic changes in children with attention deficit hyperactivity disorder

BackgroundAttention deficit hyperactivity disorder (ADHD) is the most prevalent psychiatric disorder in children who experience delayed language development. This work aimed to study electroencephalographic (EEG) changes in children with ADHD and establish a strategy for prompt identification and suitable management in the future.MethodsThis descriptive cross-sectional study was conducted on 100 children aged between 5 and 12 years old, both sexes, diagnosed with ADHD according to DSM-V Criteria, diagnosed as ADHD children with the Arabic version of Conner’s Parent Rating Scale. Psychometric evaluation by intelligence quotient (IQ) using Stanford Binet Intelligence test. The Receptive Expressive Arabic Language Scale was used to assess language profile.ResultsThere was a significant negative correlation between the severity of ADHD and IQ scores. There was an insignificant negative correlation between ADHD and scaled receptive language score and scaled expressive language score. There was an insignificant positive correlation between ADHD and scaled expressive language score. There was a significant difference between EEG changes and combined subtype of ADHD and scaled score of receptive language (P < 0.05). There was an insignificant difference between (EEG changes and language development), the scaled score of expressive, total language, and the scaled score of language.ConclusionsEEG has clinical utility in the diagnosis of ADHD. The results of EEG analysis in children with ADHD have been quite important, and this novel methodology could offer supplementary factors to strengthen its diagnostic impact.

Age as an important variable that affects auditory and language results after cochlear implant

AbstractCochlear implant (CI) benefits deaf children's speech perception, language development and speech production. Early fitting of an implant results in improved outcomes. Over a period of more than 3 decades, cochlear implantation (CI) is firmly known as safe and effective treatment for children with bilateral severe to profound sensorineural hearing loss (SNHL) who develop minimal or no benefit from conventional hearing aid use. The primary aim of CI is to improve auditory perception of the child and hence the spoken language. The development of functional spoken language would be the major long-term benefits of CI. Children who received a cochlear implant before a real delay in spoken language development (i.e., between 12–16 months) were more able to achieve age-appropriate spoken language. These results strengthen the idea of doing cochlear implantation before 24 months of age, especially for children with a better ear aided pure tone with average thresholds greater than 65 dB prior to surgery.The main aim is to study the effect of age on CI patients results by applying simple questioners on 31 CI children, that are easy to assess the auditory perception and discrimination as an important prerequisite for language development.Results There was an inverse correlation between; age at CI, categories of auditory performance (CAPS), and meaningful auditory integration scale (MAIS) scores. While; there was direct correlation between MAIS &amp; CAPS scores.Conclusions The auditory perception development after CI in children being 3 years old or younger is much better than the older children which would be reflected on their speech perception and acquiring their 1st word and sentence, but language development did not differ between both groups for this period of follow up. With a need of further detailed full language aspects assessment and follow up to ensure these results.

From dynamic FMR1 mutation to variable phenotypes: A case series from a large Tunisian family

AbstractBackgroundFragile X messenger ribonucleoprotein 1 gene (FMR1) disorders result from a mutation in the FMR1 gene, leading to a deficiency or absence of the FMRP. Full mutations and premutations of the FMR1 gene are known to cause completely different symptoms.AimTo determine the clinical phenotype of individuals with a full mutation or premutation of the FMR1 gene.MethodsWe report 6 patients of the same Tunisian family with different clinical phenotypes. We gathered recent findings on the clinical spectrum of FMR1 mutations from 2020 to 2024 using PubMed, Google Scholar, ScienceDirect, and Web of Science.ResultsOur observations revealed two first cousins, aged 4 and 13 years, respectively, with a medical history of recurrent infections. They exhibited developmental delay, hyperactivity, concentration difficulties, and autistic traits, with characteristic facial dysmorphia. Family investigation revealed a history of early menopause and primary ovary insufficiency diagnosis in their mothers and one aunt. The 79‐year‐old grandfather presented with recent memory and sleep disturbances, with signs suggestive of fragile X‐associated tremor/ataxia syndrome (FXTAS) on brain MRI. The genetic assessment confirmed the fragile X syndrome (FXS) in children and the fragile X‐associated primary ovarian insufficiency (FXPOI) in their mothers. Our search in literature uncovered a genetically diverse disorder exhibiting clinical variability influenced by factors such as gene size, methylation mosaicism, and the presence of premutations or full mutations, alongside various pathophysiological mechanisms.ConclusionClinical signs highlighted in our family report should alert clinicians to consider FXS, particularly facial dysmorphia and intellectual disability or language developmental delay, FXPOI for early menopause, and FXTAS for tremor and ataxia within the family context of FXS.

Evaluation of otoacoustic emissions and brainstem auditory evoked potential in infants with birth asphyxia

Background: Recent technological evolutions allow for the identification of hearing level (HL) in infants soon after birth. The goal of early hearing detection and intervention is to maximize linguistic and communication skills and literacy development for children who are deaf or hard of hearing. Infants whose HL has been confirmed before 6 months of age must be provided early intervention. Aims and Objectives: The aim of the study was to observe the changes in the otoacoustic emissions (OAE) and brainstem auditory evoked potential (BAEP) in infants with birth asphyxia (BA). Materials and Methods: The present study was a case–control study. A total of 50 cases of infants with BA and 50 normal-term infants were part of the study after obtaining informed consent as per the ICMR guidelines. A through clinical examination and otoscopy examination were done to rule out any conductive hearing loss. Then, OAE and BAEP were recorded to estimate the hearing loss and hearing threshold of infants. Results: BAEP waveform I, III, and V absolute latencies were significantly prolonged among BA infants than normal infants. The interpeak latency (IPL) of the right ear III-V was significantly increased in BA infants. However, III-V and I-V latencies though prolonged in BA infants, they are not statistically significant. No significant interaural difference was noted in absolute and IPLs of both BA and normal infants. No significant relationship existed between the mode of delivery and the degree of hearing loss in both ears. Significant association was observed between the degree of hearing loss and severity of BA (hypoxic-ischemic encephalopathy) in both ears. Conclusion: BAEP recording in BA infants is useful to identify the hearing impairment at the earliest. The implication of this research work will help in early detection of hearing impairment, so that speech and language developmental delay in the child can be prevented.