The phenotypic and genotypic spectrum of individuals with mono- or biallelic ANK3 variants.

ANK3 encodes ankyrin-G, a protein involved in neuronal development and signaling. Alternative splicing gives rise to three ankyrin-G isoforms comprising different domains with distinct expression patterns. Mono- or biallelic ANK3 variants are associated with non-specific syndromic intellectual disability in 14 individuals (seven with monoallelic and seven with biallelic variants). In this study, we describe the clinical features of 13 additional individuals and review the data on a total of 27 individuals (16 individuals with monoallelic and 11 with biallelic ANK3 variants) and demonstrate that the phenotype for biallelic variants is more severe. The phenotypic features include language delay (92%), autism spectrum disorder (76%), intellectual disability (78%), hypotonia (65%), motor delay (68%), attention deficit disorder (ADD) or attention deficit hyperactivity disorder (ADHD) (57%), sleep disturbances (50%), aggressivity/self-injury (37.5%), and epilepsy (35%). A notable phenotypic difference was presence of ataxia in three individuals with biallelic variants, but in none of the individuals with monoallelic variants. While the majority of the monoallelic variants are predicted to result in a truncated protein, biallelic variants are almost exclusively missense. Moreover, mono- and biallelic variants appear to be localized differently across the three different ankyrin-G isoforms, suggesting isoform-specific pathological mechanisms.

Determinants of speech and language delay among children aged 12 months to 12 years at Yekatit 12 Hospital, Addis Ababa, Ethiopia: a case-control study.

BACKGROUND: Speech and language delay among children can result in social interaction problems, attention difficulties, decreased writing and reading abilities, and poor cognitive and behavioral development. Despite the mounting prevalence of speech and language delays in Ethiopia, there is a lack of literature addressing the factors contributing to this delay. Consequently, this study aims to identify determinants of speech and language delay among children aged 12 months to 12 years at Yekatit 12 Hospital in Addis Ababa, Ethiopia. METHODS: We conducted an institutional-based at Yekatit 12 Hospital, unmatched case-control study with 50 cases and 100 controls aged 12 months to 12 years. Interviewer-administered questionnaires were used to collect data from the parents or caregivers of the participating children. Epi Info v7 was used for sample calculation, and SPSS v26 was used for analysis. The chi-square test was performed to determine the relationship between speech and language delay and determining factors, which was then followed by logistic regression. The significant determining factors were identified based on the adjusted odds ratio (AOR), with a 95% CI and p-value (< 0.05). RESULTS: Case group constituted 23 males and 27 females, totaling 50 children. Upon completing the multivariate analysis, birth asphyxia [AOR = 4.58, 95CI (1.23-16.99)], bottle-feeding [AOR = 4.54, 95CI (1.29-16.04)], mother-child separation [AOR = 2.6, 95CI (1.05-6.43)], multilingual family [AOR = 2.31, 95CI (1.03-5.18)], and screen time greater than two hours [AOR = 3.06, 95CI (1.29-7.28)] were found to be statistically significant determinants of speech and language delay. CONCLUSIONS: Our study found that birth asphyxia, bottle-feeding, mother-child separation, being from a multilingual family, and excessive screen time contribute significantly to speech and language delay. As a result, it is important to develop interventions that target these modifiable factors, while also ensuring that early diagnosis and treatment options are readily accessible.

Association between neural prosody discrimination and language abilities in toddlers: a functional near-infrared spectroscopy study.

BACKGROUND: Language delay affects near- and long-term social communication and learning in toddlers, and, an increasing number of experts pay attention to it. The development of prosody discrimination is one of the earliest stages of language development in which key skills for later stages are mastered. Therefore, analyzing the relationship between brain discrimination of speech prosody and language abilities may provide an objective basis for the diagnosis and intervention of language delay. METHODS: In this study, all cases(n = 241) were enrolled from a tertiary women's hospital, from 2021 to 2022. We used functional near-infrared spectroscopy (fNIRS) to assess children's neural prosody discrimination abilities, and a Chinese communicative development inventory (CCDI) were used to evaluate their language abilities. RESULTS: Ninety-eight full-term and 108 preterm toddlers were included in the final analysis in phase I and II studies, respectively. The total CCDI screening abnormality rate was 9.2% for full-term and 34.3% for preterm toddlers. Full-term toddlers showed prosody discrimination ability in all channels except channel 5, while preterm toddlers showed prosody discrimination ability in channel 6 only. Multifactorial logistic regression analyses showed that prosody discrimination of the right angular gyrus (channel 3) had a statistically significant effect on language delay (odd ratio = 0.301, P < 0.05) in full-term toddlers. Random forest (RF) regression model presented that prosody discrimination reflected by channels and brain regions based on fNIRS data was an important parameter for predicting language delay in preterm toddlers, among which the prosody discrimination reflected by the right angular gyrus (channel 4) was the most important parameter. The area under the model Receiver operating characteristic (ROC) curve was 0.687. CONCLUSIONS: Neural prosody discrimination ability is positively associated with language development, assessment of brain prosody discrimination abilities through fNIRS could be used as an objective indicator for early identification of children with language delay in the future clinical application.

[Oral language development in maltreated and foster children]. / Le développement du langage oral chez les enfants maltraités et placés.

Language disorders, which are still very poorly detected, are often present in abused children. While the consequences are well known and long-lasting, little is known about the development and specific characteristics of these children, depending on where they were placed, the type of abuse they suffered and the age at which they were placed. This finding led to a review of the literature aimed at better defining the state of knowledge on the subject, for the benefit of better detection and treatment.

A Comparison of Parent Reports, the Mental Synthesis Evaluation Checklist (MSEC) and the Autism Treatment Evaluation Checklist (ATEC), with the Childhood Autism Rating Scale (CARS).

This study compares two parent reports, the Mental Synthesis Evaluation Checklist (MSEC) and the Autism Treatment Evaluation Checklist (ATEC), with the Childhood Autism Rating Scale (CARS). The ATEC consists of four subscales, as follows: (1) expressive language, (2) sociability, (3) sensory awareness, and (4) health. The MSEC is complementary to the ATEC in measuring complex language comprehension. The parents of 143 autistic children, from 2 to 22 years of age (mean 6.7 ± 5.1 years), completed the MSEC and the ATEC questionnaires and a clinician assessed their CARS score. The CARS score correlated strongly with all parent reports, the complex language comprehension MSEC (r = 0.60, p < 0.0001), expressive language (r = 0.66, p < 0.0001), sociability (r = 0.58, p < 0.0001), sensory awareness (r = 0.71, p < 0.0001), and health (r = 0.53, p < 0.0001), as well as the total ATEC score (r = 0.75, p < 0.0001). The strongest correlation was between the CARS score and the composite of all five parent-reported scores (total ATEC + MSEC, r = 0.77, p < 0.0001). These results suggest a high fidelity of the MSEC and ATEC parent reports and especially of their composite score, total ATEC + MSEC.

Differences in Sleep EEG Coherence and Spindle Metrics in Toddlers With and Without Language Delay: A Prospective Observational Study.

Background: Sleep plays a crucial role in early language development, and sleep disturbances are common in children with neurodevelopmental disorders. Examining sleep microarchitecture in toddlers with and without language delays can offer key insights into neurophysiological abnormalities associated with atypical neurodevelopmental trajectories and potentially aid in early detection and intervention. Methods: Here, we investigated electroencephalogram (EEG) coherence and sleep spindles in 16 toddlers with language delay (LD) compared with a group of 39 typically developing (TD) toddlers. The sample was majority male (n = 34, 62%). Participants were aged 12-to-22 months at baseline, and 34 (LD, n=11; TD, n=23) participants were evaluated again at 36 months of age. Results: LD toddlers demonstrated increased EEG coherence compared to TD toddlers, with differences most prominent during slow-wave sleep. Within the LD group, lower expressive language skills were associated with higher coherence in REM sleep. Within the TD group, lower expressive language skills were associated with higher coherence in slow-wave sleep. Sleep spindle density, duration, and frequency changed between baseline and follow-up for both groups, with the LD group demonstrating a smaller magnitude of change than the TD group. The direction of change was frequency-dependent for both groups. Conclusions: These findings indicate that atypical sleep EEG connectivity and sleep spindle development can be detected in toddlers between 12 and 36 months and offers insights into neurophysiological mechanisms underlying the etiology of neurodevelopmental disorders. Trial registration: https://clinicaltrials.gov/study/NCT01339767; Registration date: 4/20/2011.

Unsupervised Screen Exposure and Poor Language Development: A Scoping Review to Assess Current Evidence and Suggest Priorities for Research.

Screen exposure has both negative and positive effects on the level of language skills a child acquires. The purpose of this review is to address current literature on the possible relationship between unsupervised screen exposure and language development in children and to provide recommendations to caregivers regarding screen exposure of children, taking into consideration the possible effects. A scoping review was conducted using the PubMed/MEDLINE (Medical Literature Analysis and Retrieval System Online) database. A total of 590 articles were retrieved and considered for inclusion. Twenty-one articles were finally included and reviewed with an emphasis on language, communication, and executive skills as well as cognitive development. The negative effects of screen exposure for children outweigh the positive effects. The largest number of studies demonstrate that unsupervised screen exposure may negatively impact a child's language usage and cognitive and executive skills, disrupt playtime, and affect the quality of sleep. On the other hand, supervised screen use is associated with improved language skills. More evidence is needed on unsupervised exposure in children to new types of screens. As technology could play a significant role in schools in the future, additional research is required to create educational media for schoolchildren with specific guidelines.

Haploinsufficiency of NKX2-1 is likely to contribute to developmental delay involving 14q13 microdeletions.

Nucleotide variations or deletions in the NK2 homeobox 1 gene (NKX2-1), located at 14q13.3, lead to symptoms associated with the brain, lungs, and thyroid, and the combination of these phenotypes is clinically recognized as the brain-lung-thyroid syndrome. Many types of nucleotide variants of NKX2-1 have been identified, and phenotypic variability has been reported. Chromosomal deletions involving NKX2-1 have also been reported; however, phenotypic differences between patients with nucleotide variants of NKX2-1 and patients with chromosomal deletions involving NKX2-1 have not been well established. Recently, we identified seven patients with 14q13 microdeletions involving the NKX2-1. Most patients exhibited developmental delay. This inquiry arises regarding the potential existence of haploinsufficiency effects beyond those attributed to NKX2-1 within the 14q13 microdeletion. However, a literature review has shown that developmental delay is not rare in patients with nucleotide alterations in NKX2-1. Rather, motor function impairment may have affected the total developmental assessment, and the haploinsufficiency of genes contiguous to NKX2-1 is unlikely to contribute to developmental delay.

Classic and Atypical Late Infantile Neuronal Ceroid Lipofuscinosis in Latin America: Clinical and Genetic Aspects, and Treatment Outcome with Cerliponase Alfa.

Introduction: Late infantile neuronal ceroid lipofuscinosis type 2 (CLN2), is a neurodegenerative autosomal recessive disease caused by TPP1 gene variants, with a spectrum of classic and atypical phenotypes. The aim of treatment is to slow functional decline as early as possible in an attempt to improve quality of life and survival. This study describes the clinical characteristics as well as the response to treatment with cerliponase alfa. Materials and methods: A retrospective study was conducted in five Latin-American countries, using clinical records from patients with CLN2. Clinical follow-up and treatment variables are described. A descriptive and bivariate statistical analysis was performed. Results: A total of 36 patients were observed (range of follow-up of 61-110 weeks post-treatment). At presentation, patients with the classic phenotype (n = 16) exhibited regression in language (90%), while seizures were the predominant symptom (87%) in patients with the atypical phenotype (n = 20). Median age of symptom onset and time to first specialized consultation was 3 (classical) and 7 (atypical) years, while the median time interval between onset of symptoms and treatment initiation was 4 years (classical) and 7.5 (atypical). The most frequent variant was c.827 A > T in 17/72 alleles, followed by c.622C > T in 6/72 alleles. All patients were treated with cerliponase alfa, and either remained functionally stable or had a loss of 1 point on the CLN2 scale, or up to 2 points on the Wells Cornel and Hamburg scales, when compared to pretreatment values. Discussion and conclusion: This study reports the largest number of patients with CLN2 currently on treatment with cerliponase alfa in the world. Data show a higher frequency of patients with atypical phenotypes and a high allelic proportion of intron variants in our region. There was evidence of long intervals until first specialized consultation, diagnosis, and enzyme replacement therapy. Follow-up after the initiation of cerliponase alfa showed slower progression or stabilization of the disease, associated with adequate clinical outcomes and stable functional scores. These improvements were consistent in both clinical phenotypes.

Audiological and Speech and Language Characteristics of a Case with Hunter's Syndrome.

Hearing loss is a common manifestation of Hunter's syndrome, with reported rates ranging from 67.3 to 94%. The aim is to highlight the audiological profile and pathophysiology of mixed hearing loss in individuals with hunter's syndrome. A 7.6-year-old male child was brought to the department of audiology with a complaint of not responding to name call and regression in the speech and language skills. Detailed audiological showed severe to profound mixed hearing loss. REELS and 3DLAT results showed RLA to be 9 to 10 months and ELA to be 6 to 7 months. Owing to the progressive nature and high prevalence of hearing loss in hunter's syndrome, this case report highlights the importance of middle ear evaluation in the pediatric hearing assessment apart from OAE and ABR. Speech- language therapy must be considered with a focus on functional communication.

Transcranial direct current stimulation combined with language-cognitive training improves language and cognitive ability in children with language delay.

Introduction: Language delay cannot be ignored, and there is an urgent need to determine therapies that elicit better results in a short period. However, whether transcranial direct current stimulation (tDCS) alone or in combination with other therapies can promote recovery of language and cognitive function in children with language delay remains unknown. This study aims to explore the effects of tDCS combined with language-cognitive training and home-based rehabilitation on language and cognitive ability in children with language delay. Methods: Children with language delay who visited the Department of rehabilitation medicine or the pediatric outpatient clinic of the First People's Hospital of Foshan from January 2019 to December 2021, totaling 190 in number, were included and randomly divided into 4 groups, i.e., the family guidance group, the tDCS group, the language-cognitive training group, and the comprehensive training group. The family guidance group (47 cases) received home training. The tDCS group (46 cases) received home training and tDCS treatment. The language- cognitive training group (49 cases) adopted home training and language-cognitive training. The comprehensive training group (48 cases) took home training, language-cognitive training, and tDCS treatment. All groups received training 5 times a week for 4 weeks. The Sign-significant relations (S-S) test was applied to evaluate the language comprehension, language expression, basic learning ability, and attitude of communication of the children. Results: The language-cognitive training group and the comprehensive training group showed improvement after treatment (p < 0.05) regarding basic learning ability. The communication attitude of the four groups improved after intervention (p < 0.05). Particularly, the comprehensive training group had maximum improvement after intervention. No serious adverse reactions such as epilepsy, headache, and behavioral abnormalities were found. Conclusion: tDCS combined with language-cognitive training and home training can improve language and cognitive ability in children with language delay.

Clinical phenotype and genetic characteristics of patients with typical 16p11.2 microdeletion syndrome / 中华神经科杂志

Objective:To analyze the clinical phenotype, copy number variation, treatment and follow-up characteristics of children with typical 16p11.2 deletion syndrome.Methods:The clinical data of 10 children with typical 16p11.2 deletion syndrome who were treated in the Department of Neurology, Children′s Hospital of Fudan University from August 2011 to December 2021 were retrospectively collected, and their clinical phenotype, copy number variation, treatment and follow-up were summarized.Results:Among the 10 children, 4 are female and 6 are male, all with epilepsy. Nine patients had epilepsy in infancy, and the age of onset was 6.0 (4.0, 8.5) months. Four cases had focal seizures (1 with fever), 4 had generalized tonic-clonic seizures, and 2 had focal seizures with generalized tonic-clonic seizures. Eight cases had cluster seizures (more than 2 to 10 seizures within 24 hours), and 1 case had 1 status epilepticus. Nine children did not show obvious developmental delay at the onset of epilepsy, and 1 child had developmental delay at the onset of epilepsy at 14 months of age. One child had parallel toes at left foot, and 1 had macrocephaly and low limb muscle tone. Genetic testing found that 10 children carried typical 16p11.2 heterozygous deletion, the starting position of the deletion fragment was Chr16:29478119-29675016, the ending position was Chr16:30125670-30206112, and the deletion length was 525-712 kb, all of which were considered pathogenic variants. In the antiepileptic drug treatment, 4 children were treated with oxcarbazepine, 2 with sodium valproate, 2 was switched to oxcarbazepine after levetiracetam was ineffective, 1 with levetiracetam combined with sodium valproate, and 1 with levetiracetam in combination with sodium valproate and ketogenic diet, and all 10 children had no seizures. One patient developed episodic exercise-induced dyskinesia at school age, and the seizures decreased after treatment with oxcarbazepine. Follow-up of 10 children found that 9 children had different degrees of developmental delay (language was significantly affected), 3 cases were combined with autism-like manifestations, and 1 case had poor comprehension, learning difficulties, and repeated grades after entering regular primary schools.Conclusion:The typical 16p11.2 microdeletion syndrome has the deletion of gene fragments in the proximal region of 16p11.2, characterized by drug-responsive cluster seizures with onset in infancy, which may be accompanied by language delay, autism spectrum disorder and nonspecific malformations.

La comunicación preverbal en niños con ausencia del lenguaje / Preverbal communication development in children with absence of language

Los niños pequeños que consultan por ausencia del lenguaje suelen mostrar déficits en la construcción de mecanismos comunicativos preverbales sin que estos formen parte de trastornos más amplios del desarrollo. Objetivo: Analizar la presencia/ausencia de habilidades preverbales en niños con ausencia del lenguaje no autistas. Población: Se analizó una muestra de 77niños de 2 a 3años y 6meses que consultaron por ausencia del lenguaje, pertenecientes al servicio de Fonoaudiología del Hospital Universitario Austral y a la práctica privada. Material y método: Los integrantes de la muestra fueron evaluados audiológicamente para descartar la presencia de hipoacusia, se aplicó a los padres el cuestionario M-CHAT para descartar niños con riesgo medio y alto de autismo, y se tomaron parámetros madurativos generales obtenidos a través de la escala VABS, con lo cual se buscó identificar la presencia de retrasos específicos para la adquisición del lenguaje y alteraciones globales del desarrollo. Las habilidades preverbales observadas fueron el contacto visual, la atención conjunta, la capacidad de interacción, la imitación simple y el uso de gestos protoimperativos. Resultados: Los niños con retrasos globales del desarrollo exhibieron mayor compromiso en dichos mecanismos que los pacientes con retrasos puntuales del lenguaje. Los ítems que mostraron mayor nivel de afectación fueron el desarrollo de la imitación y el uso de gestos protoimperativos correspondientes a adquisiciones propias del último trimestre del primer año de vida y el primer trimestre del segundo.(AU)

Young children consulting due to an absence of language usually show deficits in the construction of preverbal communicative mechanisms, not necessarily a sign of broader developmental disorders.AimTo analyse the presence/absence of preverbal abilities in non-autistic children with language absence. Population: A subset of 77 2-3.5year-old children was analysed. These children attended consultation at the Speech-Language Pathology Service of the Hospital Universitario Austral and private consultation due to an absence of language. Materials and methodology: The population of children under study went through an audiological evaluation to rule out hearing loss. Their parents were asked to answer the M-CHAT Questionnaire to rule out children with high and medium risk of autism; and an assessment of the general development parameters was made with the Vineland, VABS scale, seeking to identify the presence of specific delays in language acquisition and global developmental disorders. The preverbal abilities studied were: visual contact, joint attention, the ability to interact, simple imitation, and the use of protoimperative gestures. Results: Children with global developmental delays showed more issues in the above mechanisms than the patients with specific language delays. The items that showed a higher level of impairment were the development of imitation and the use of protoimperative gestures related to development during the last quarter of the first year of life.(AU)

Prospective cohort study and risk factor analysis of language delay based on outpatient in Xiamen / 中华实用儿科临床杂志

Objective:To analyze the social family factors influencing language delay in children with the age ranging from 18 to 42 months in Xiamen.Methods:A prospective cohort study was conducted to evaluate children with language delay (case group) and normal controls (control group) in Child Health Clinic and Developmental Behavior Clinic of the First Affiliated Hospital of Xiamen University between July 2017 and July 2019 via a self-made questionnaire and a language development scale, and the case-control ratio was 1∶4.The chi- square test, Logistic regression and generalized multifactor dimensionality reduction (GMDR) were adopted for statistical analysis, and the correction analysis was performed with Bonferroni correction. Results:A total of 126 children with language delay were collected in the case group, with the ratio of male to female being 2.05∶1.00. The control group was included 504 cases.There was no significant difference in gender and age between both groups.The chi- square test showed that there were statistical differences in maternal culture and screen time distribution between both groups ( P<0.05/13). Besides, the multivariate Logistic regression analysis suggested that significant risk factors for language delay in children included maternal culture, maternal-child interaction, and screen time.The GMDR analysis showed that screen time was the optimal single-mode for children at risk of language delay, while maternal culture and screen time constituted a statistically different two-factor model.Moreover, the marital-child interaction was included into the three-factor model. Conclusions:Screen time and maternal culture were the most important risk factors for language delay in children of Xiamen, and both factors would interact with maternal-child interaction, which could exert impacts on language delay in children.

Impacto de la hipoacusia unilateral en el desarrollo del lenguaje / Impact of unilateral hearing loss on language development

Antecedentes y objetivo: Aunque aparentemente la hipoacusia unilateral (HU) pase desapercibida, desde hace 40 años sabemos que su presencia puede ocasionar problemas académicos y comportamentales. Dada la escasez de trabajos publicados y la variabilidad de resultados, nos proponemos conocer su impacto realizando un estudio formal del lenguaje en niños con HU, analizando los posibles factores predisponentes y complementando los resultados con la opinión de sus padres. Material y métodos: Seleccionamos 16 niños de 3 a 15 años, diagnosticados precozmente de HU prelocutiva, de tipo y grado variables, aplicándoles las pruebas de lenguaje: «EMLE», «EDAF», «PLON-R/BLOC-SR» y «Evaluación fonológica del habla infantil de Laura Bosch». Así mismo, obtuvimos la opinión de los padres sobre las repercusiones observadas en el desarrollo lingüístico de sus hijos con HU, a través de un cuestionario específico. Resultados: Con independencia del oído afecto y del grado y tipo de pérdida auditiva, el desarrollo global del lenguaje muestra un rango normal, mejorando con la edad y en posible dependencia con el nivel socioeducativo de la familia. Las alteraciones se producen en morfosintaxis. En la HU profunda, las puntuaciones en fonología y en lecto-escritura son inferiores al resto. Las respuestas al cuestionario parental indican una mayor necesidad de apoyos educativos y logopédicos y la presencia de cambios en el comportamiento escolar. Conclusiones: Solo hemos detectado algunas alteraciones en el lenguaje de estos niños con HU, comprobando la escasa importancia que dan los padres a esta deficiencia. Aunque los resultados no nos permiten determinar el impacto que la HU tendrá en el desarrollo evolutivo de un niño en concreto, consideramos fundamental para su prevención, ofrecer información sobre las posibles consecuencias y procurar detectar precozmente cualquier alteración a través de un seguimiento cercano, logopédico y auditivo.(AU)

Background and objective: Even if apparently unilateral hearing loss (UHL) goes unnoticed, it has been known for 40 years that its presence leads to academic and behavioural problems. Due to the shortage of published studies and the variability of the results, our purpose is to evaluate the impact of this condition by making a formal study of language in children with UHL, analysing predisposing factors and including the parents’ point of view. Methods: A group of 16 children between 3 to 15 years old were selected; all had an early diagnosis of prelingual UHL, with a variability in grade and type. Several language tests have been applied: “EMLE”, “EDAF”, “PLON-R/BLOC-SR” and “Evaluación Fonológica del habla infantil” (Laura Bosch). In addition, we obtained the parents’ opinion about the impact on their children's language development with UHL, through an ad hoc questionnaire. Results: Regardless of the impaired ear, the grade and type of UHL, the global development of language showed a normal range, which improved with age and possibly depends on the socio-educational level of the family. The main alterations were found in morphosyntax. In profound UHL, the outcome in the phonological registry and in reading and writing are lower than in the other categories. According to the parental questionnaire responses, more educational and speech language support is required and some behavioural changes were also detected, mostly at school. Conclusions: Only a few language alterations were detected; we realize that parents do not attach much importance to this deficit. Although the impact of UHL on the development of a specific child cannot be determined, for prevention information is essential on possible consequences, as well as early detection of any variation through close monitoring, speech and hearing therapy.(AU)

Implicaciones clínicas del diagnóstico diferencial temprano entre Retraso de Lenguaje (RL) y Trastorno Específico del Lenguaje (TEL) / Clinical Implications of early differential diagnostic between Language Delay (LD) and Specific Language Impairment (SLI)

El objetivo de este trabajo es analizar las diferencias que, desde un punto de vista clínico, tienen los conceptos de Retraso de Lenguaje (RL) y Trastorno Específico del Lenguaje (TEL). Para tal fin, se seleccionó una muestra de seis sujetos con RL y otros seis con TEL, a través del uso de instrumentos tanto estandarizados como en forma de tareas. Mientras que los niños con RL no recibieron tratamiento alguno, los TEL fueron sometidos a un programa de intervención que perseguía, por un lado, favorecer el desarrollo de la comprensión y la producción lingüística y, por otro, estimular el progreso de habilidades básicas para la iniciación a la lectura, especialmente el desarrollo narrativo y el procesamiento fonológico. Los contenidos del programa se han secuenciado en orden creciente de complejidad cognitiva. Con el fin de comprobar las semejanzas o diferencias de los sujetos en su desarrollo lingüístico, atendiendo a su grupo de pertenencia, se utilizó la U de MannWhitney. Los resultados obtenidos muestran diferencias estadísticamente significativas entre ambos grupos. Así, se destaca una evolución siempre favorable de los sujetos con RL, sin que sean sometidos a intervención alguna, todo lo contrario de lo que ocurre con los niños con TEL. En consecuencia, los datos apuntan a que no tiene por qué haber un recorrido desde el RL hasta el TEL, tratándose de categorías diagnósticas diferenciadas.

The aim of this paper is to analyze the differences between Language Delay (LD) and Specific Language Impairment (SLI) concepts from a clinical point of view. The selected sample consisted of 6 LD and 6 SLI individuals, who were chosen with standardized tools and qualitative tasks. LD children had not any treatment; meanwhile SLI children underwent an intervention program which pursued two aims: on one hand, to improve the development of linguistic comprehension and production and on the other hand, to encourage the progress of basic skills for literacy, focusing on narrative development and phonological processing. The contents of the program have been sequenced in increasing order of cognitive complexity. The U of Mann-Whitney was used to check the similarities and differences of the children' linguistic development according to their diagnosis. Results show important differences between both groups. A positive progress of LD children stand outs, although they didn't undergo an intervention program. Meanwhile, just the opposite happens with SLI children. These data make us think that there is not an obligatory sequence from LD to SLI children. Therefore, we regard them as different categories.

Genome-Wide Association Scan of Korean Autism Spectrum Disorders with Language Delay: A Preliminary Study

OBJECTIVE: Communication problems are a prevalent symptom of autism spectrum disorders (ASDs), which have a genetic background. Although several genome-wide studies on ASD have suggested a number of candidate genes, few studies have reported the association or linkage of specific endophenotypes to ASDs. METHODS: Forty-two Korean ASD patients who showed a language delay were enrolled in this study with their parents. We performed a genome-wide scan by using the Affymetrix SNP Array 5.0 platform to identify candidate genes responsible for language delay in ASDs. RESULTS: We detected candidate single-nucleotide polymorphisms (SNPs) in chromosome 11, rs11212733 (p-value=9.76x10(-6)) and rs7125479 (p-value=1.48x10(-4)), as a marker of language delay in ASD using the transmission disequilibrium test and multifactor dimensionality reduction test. CONCLUSION: Although our results suggest that several SNPs are associated with language delay in ASD, rs11212733 we were not able to observe any significant results after correction of multiple comparisons. This may imply that more samples may be required to identify genes associated with language delay in ASD.

Vocabulario expresivo en una muestra de niños preescolares con trastornos psiquiátricos y un grupo con desarrollo típico / Expressive vocabulary in a sample of preschoolers with psychiatric disorders and a group of children with typical development

Introduction Expressive language problems are common amongst preschoolers both in the general population (15-20%) and in clinical settings (50-75%); furthermore, these problems are often not detected. Language problems require attention since they are associated with severe developmental disorders such as autism (Au), Asperger's syndrome (AS), attention-deficit hyperactivity disorder (ADHD) and mental retardation. In theory, language development, specifically expressive vocabulary, associated to psychiatric disorders could be identified with a scale that measures expressive language. Objectives 1. To determine the frequency of language delay in a sample of Mexican children with typical development in the community. 2. To determine the vocabulary level for autism, Asperger's syndrome, ADHD and other psychiatric disorders through the use of the Language Development Survey (LDS). 3. To analyze if differences in vocabulary ratings among the clinical subgroups can be detected with this instrument. Materials and methods The sample consisted of: A community group with typical development (TDG) (n=302) and a clinical group (CG) (n=55); both groups had an age range of 2-5 years. The clinical group was subdivided into 4 clinical subgroups based on DSM-IV criteria for: autism, Asperger's syndrome, ADHD and other psychiatric disorders (OPD) (enuresis, encopresis, separation anxiety). Exclusion criteria were: deafness, hypoacusia and other sensorial disorders and mental retardation. A semi-structured interview based on DSM-IV criteria was designed ad hoc to diagnose: autism, Asperger's syndrome, ADHD (inattentive, combined or hyperactive impulsive varieties), specific phobia disorder, tics (transitory, chronic and Tourette's syndrome), dysthymic disorder, depression, enuresis, separation anxiety disorder based on parent information. The clinical evaluation included a semi-structured play session with age-appropriate didactic material. Discrepancies in diagnosis were resolved by consensus. All interviews were conducted by an experienced clinician. The number of bulbs in the household was used to measure socioeconomic status (SES). The LDS is a list of words that explores children's vocabulary based upon parental report. The original survey has a Cronbach's alpha coefficient of 0.99, test-retest coefficient of 0.97-0.99, and a sensitivity and specificity of 86-90%. Language delay (LD) was defined as ≤50 words, as recommended by several researchers. All parents signed an informed consent form and answered the LDS. Statistical analysis. Categorical data was analyzed using a χ2 analysis; continuous data such as age, socioeconomic status, and LDS score, were analyzed using t-tests. To analytically compare the LDS group medians, a Kruskal-Wallis test was used, since the variable distribution violated the normality distribution requirements for parametric tests. For the post hoc tests, a Tamhane analysis was used for groups of different sizes. Differences were considered statistically significant if they had a p<0.05. Results The groups were similar for variables such as child's age, parents' age and the LDS median between the normal development group and the clinical group t(355)=1.12, p=.26. The proportion of male children was greater in the clinical group (CG) than in the TDG, 76.4% vs. 53%, χ2(1,N=357)=10.63, p<.001. SES was higher for the TDG (M=7.2, SD=4.2) than for the CG (M=5.8, SD=3), p<.005. The father's age (r=.15, p<.009), the mother's age (r=.16, p<.003) and the SES (r=.13, p<.01) were correlated to the LDS score. Additionally, father's and mother's age were strongly correlated (r=.72, p<.0001) and the mother's age showed small correlations with the socioeconomic status (r=.15, p<.004). The mother's age was correlated with the child's vocabulary for both sexes (males: r=.16, p<.04, females: r=.16, p<.02), and vocabulary was significantly correlated with the SES, only for the males. Language delay frequency in the TDG was 21.2%, and 23.6% for the CG, χ2(1,N=352)=1.03, p<0.59. By sex, males in both groups exhibited a greater frequency of LD [TDG: 21.6% males vs. 20.7% females, χ2(1,N=302)=.154, p<0.926; CG: 26.2% males vs. 15.4% females, χ2(1,N=55)=.642, p<0.423]. The autism subgroup had the lowest vocabulary rating (M=85, SD=78.68), followed by the OPD subgroup (M=149, SD=121), whose rating was very similar to the typically development group (M=179, SD=105). The Asperger group (M=259, SD=27) had a similar score to the ADHD group (M=286, SD=100.2), which had the highest vocabulary score of all. The Kruskal-Wallis test for median differences was significant [H(4)=17.47, p<.002]. Multiple contrast comparisons and Tamhane's post hoc analysis showed that only the contrast between the autism and the ADHD subgroups (means: 85 vs. 286, respectively) was significant (ANOVA Tamhane post hoc, p<.01).

Introducción Aun cuando los problemas de lenguaje expresivo son muy comunes tanto en la población general (15-20%) como en la clínica (50-75%), su detección es insuficiente. Los problemas de lenguaje requieren atención debido a su comorbilidad con problemas graves del desarrollo como el autismo, el trastorno de Asperger, el trastorno por déficit de la atención e hiperactividad (TDAH) y el retraso mental. En teoría, el vocabulario asociado a estos trastornos psiquiátricos podría identificarse con un instrumento que midiera el vocabulario expresivo. Objetivos 1. Determinar la frecuencia de atraso del lenguaje (AL) (SDL ≤50 palabras) en un grupo con desarrollo típico de la comunidad. 2. Determinar el nivel de vocabulario para los subgrupos de: autismo, trastorno de Asperger (TA), TDAH y otros trastornos psiquiátricos (OTP) por medio del sondeo del desarrollo del lenguaje (SDL). 3. Analizar si el SDL puede discriminar entre los subgrupos clínicos. Sujetos y método La muestra estuvo compuesta por: un grupo de la comunidad con desarrollo típico (GDT) (n=302), y un grupo clínico (GC) (n=55), con un rango de edad de 2-5 años. Se formaron cuatro subgrupos clínicos: autismo, trastorno de Asperger, TDAH y un grupo de OTP (enuresis, encopresis, ansiedad de separación). El SDL es una lista de palabras que identifica el padre sobre el vocabulario de los niños que tiene un coeficiente de alpha de Cronbach de (.99), un test-retest de .97 a .99 y una sensibilidad y especificidad de 86-90%. Se utilizó la definición de atraso de lenguaje (AL) basada en un punto de corte de ≤50 palabras. Análisis estadístico. Los datos categóricos fueron analizados mediante la prueba de chi-cuadrada y para las medidas continuas como la edad, el MSE y el puntaje del SDL se usaron pruebas t de Student. Para el análisis del contraste de las medianas del SDL de los grupos se aplicó una prueba de Kruskal-Wallis. Resultados Los grupos fueron semejantes para las variables como edad del niño, edad de los padres y la media del SDL. La frecuencia de AL (≤50 palabras) fue de 21.2% para el GDT y de 23.6% para la población clínica. Por sexo, los varones presentaron mayor frecuencia de atraso de lenguaje (GDT): 21.6% masculino vs. 20.7% femenino (p<0.926), GC: 26.2% masculino vs. 15.4% femenino (p<0.423). El vocabulario del grupo de autismo fue el menor de todos (Mdn=85, DE=78.68) seguido del grupo de OTP (Mdn=149, DE=121.0) que presentó un desempeño muy semejante al grupo de la comunidad (GDT) (Mdn=179, DE=105.0). El grupo de Asperger (Mdn=259, DE=127) tuvo un puntaje cercano al grupo de TDAH (Mdn=286, DE=100.25). La prueba de Kruskal-Wallis para la diferencia en las medianas fue significativa (p<.002) pero sólo el contraste entre el grupo de autismo y de TDAH (Mdn=85 vs. Mdn=286, p<.01) fue significativo. Discusión La frecuencia de AL para el GDT fue de 21.6% y para el GC fue de 23.6%. El SDL fue sensible en la detección del nivel de vocabulario entre los grupos y los resultados fueron congruentes con el desempeño esperado con algunas excepciones. Los niños con TDAH expresaron un mayor número de palabras comparados con el GDT. El único contraste significativo fue la comparación entre el grupo de TDAH y el autismo. El vocabulario del grupo de Asperger fue mejor que el de autismo, pero esta diferencia no alcanzó significancia estadística. Conclusiones La versión mexicana del SDL es un instrumento de tamizaje útil para identificar el atraso del lenguaje en los niños preescolares. Este estudio muestra que el atraso de lenguaje en un niño preescolar con TDAH es una indicación para profundizar en el diagnóstico del autismo. Tampoco deben pasarse por alto otros trastornos que pueden acompañar o no el TDAH como los trastornos del lenguaje específicos (pronunciación, expresión, comprensión). El SDL mide el vocabulario y no identifica alteraciones del lenguaje cualitativas más complejas asociadas al trastorno de Asperger.

Clinical Usefulness of Capute Developmental Test as a Screening Test for Detecting the Language Delay

OBJECTIVE: To investigate the usefulness of Capute developmental test (Cognitive Adaptive Test/Clinical Linguistic and Auditory Milestone Scale, CAT/CLAMS) as a screening test for detecting the language delay by evaluating the correlation with sequenced language scale for infants (SELSI). METHOD: Subjects were comprised of 101 children (18~48 months) who were referred for evaluation of language delay. Administering CAT/CLAMS, the developmental quotients (DQs) of CAT and CLAMS, including receptive language quotient (RLQ) and expressive language quotient (ELQ), were calculated. The results of RLQ, ELQ and DQs of CAT/CLAMS were compared with the receptive, expressive and total speech quotient (SQ) of SELSI. RESULTS: The correlation between CLAMS DQ and total SQ (r=0.75, p<0.01), between CLAMS RLQ and receptive SQ (r=0.76, p<0.01), and between CLAMS ELQ and expressive SQ (r=0.79, p<0.01) was statistically significant. CLAMS (DQ<70) revealed a sensitivity of 87% and a specificity of 78% for detecting language delay defined by total SQ<70. CONCLUSION: Correlation coefficient comparing CLAMS with SELSI test was significantly high in children with language delay. CLAMS DQ 70 is a reasonable screening cutoff score for detecting total SQ<70.

The usefulness of diagnostic tests in children with language delay / 소아과

PURPOSE: To assess the usefulness of magnetic resonance imaging (MRI), karyotyping, brainstem auditory evoked potential (BAEP), electroencephalogram (EEG), tandem mass screening test, and newborn metabolic screening test in children with language delay for diagnosing underlying diseases. METHODS: From January 2000 to June 2007, a retrospective chart review was performed for 122 children with language delay who visited the Child Neurology Clinic at Yeungnam University Hospital and who underwent neuropsychologic tests and other diagnostic evaluations for underlying diseases. They were grouped into phenomenological diagnostic categories, and test results were analyzed according to the underlying diseases. RESULTS: Of 122 patients, 47 (38.5%) had mental retardation, 40 (32.8%) had developmental language disorders, 23 (18.9%) had borderline IQ, and 12 (9.8%) had autism spectrum disorder. In 26 (21.3%) cases, the causes or relevant clinical findings to explain language delay were found. Eight (10.4%) of 77 MRIs, 6 (8.0%) of 75 EEGs, and 4 (5%) of 80 BAEPs showed abnormal results. Results directly attributed to diagnosing underlying diseases were 2 hearing defects in BAEPs and 1 bilateral perisylvian cortical dysplasia in MRIs. No abnormal results were found in karyotyping, tandem mass screening tests, and newborn screening tests. CONCLUSION: Commonly used tests to diagnose the cause of language delay are not very effective and should only be used selectively, according to patient characteristics. However, despite the low diagnostic yields from these tests, because many patients show abnormal results, these tests are useful when conducted in complete evaluation.