Significant Language Delay Research Articles

A Gad2 specific Slc6a8 deletion recapitulates the contextual and cued freezing deficits seen in Slc6a8-/y mice

The creatine (Cr)-phosphocreatine shuttle is essential for ATP homeostasis. In humans, the absence of brain Cr causes significant intellectual disability, epilepsy, and language delay. Mutations of the creatine transporter (SLC6A8) are the most common cause of Cr deficiency. In rodents, Slc6a8 deletion causes deficits in spatial learning, novel object recognition (NOR), as well as in contextual and cued freezing. The mechanisms that underlie these cognitive deficits are not known. Due to the heterogeneous nature of the brain, it is important to determine which systems are affected by a loss of Cr. In this study, we generated mice lacking Slc6a8 in GABAergic neurons by crossing Slc6a8FL mice with Gad2-Cre mice. These Gad2-specific Slc6a8 knockout (cKO) mice, along with the ubiquitous Slc6a8 KO (Slc6a8-/y), Gad2-Cre+, and wild-type (WT) mice were tested in the Morris water maze, NOR, conditioned freezing, and the radial water maze. Similar to the Slc6a8-/y mice, cKO mice had reduced contextual and cued freezing compared with WT mice. The cKO mice had a mild spatial learning deficit during the reversal phase of the MWM, however they were not as pronounced as in Slc6a8-/y mice. In NOR, the Gad2-Cre mice spent less time with the novel object, similar to the reduced novel time in the cKO mice. There were no changes in radial water maze performance. Slc6a8 deletion in GABAergic neurons is sufficient to recapitulate the conditioned freezing deficits seen in Slc6a8-/y mice.

Importanța dezvoltării comunicării și limbajului în ADHD

ADHD is the most common behavioral and learning problem in children and one of the most common reasons for medical examination. The DSM-5 classifies ADHD as a neurodevelopmental disorder that appears before the age of 12 and may persist into adulthood. Although ADHD is not accompanied by significant language delays in the use of syntax and semantics, recent studies show a notable association between ADHD and communication disorders. These disorders are present at the level of expressive language, the pragmatic component and the organization of speech. The mentioned disorders are present both in social communication and in the intrapersonal sphere (the language used for self-control). Through the analysis of several studies, the present paper wishes to highlight the importance of speech and language development to children with ADHD, which helps both socially and in self-control.

Predictive Value of Heat-Shock Protein Gene Expression on Severe Neonatal Hypoxic-Ischemic Encephalopathy

This study aims to evaluate significant gene expression in severe hypoxic ischemic encephalopathy (HIE) in newborns, which can be used as a predictable measure for high-risk HIE infants. The study prospectively recruited 77 inborn near-term or term HIE newborns between January 2018 and December 2020. We measured six different genes within 6 h of life among the HIE infants and compared the gene levels between the mild- and severe-HIE groups. Among these, 64 HIE infants (83.1%) did not receive therapeutic hypothermia (TH) because they were categorized as mild HIE, and the 13 remaining (16.9%) infants were categorized as ≥ moderate-HIE group and received TH. More abnormal MRI findings, seizure, and use of anti-convulsant were more found in the ≥ moderate = HIE group along with longer mechanical ventilation days and hospitalization. Heat-shock protein 70 family 1 A (HSPA1A) and serpin family H member 1 (SERPINH1) genes, which encode heat-shock protein (HSP) 70 and 47, respectively, were significantly elevated in the ≥ moderate-HIE, seizure, and abnormal MRI groups. HSP 70 and 47 were significantly elevated in the severe-HIE group, possibly playing protective roles in inhibiting exacerbated neuroinflammation and maintaining a cellular homeostasis. At 18–24 months, ≥ moderate-HIE group manifested a significant language delay.

Systematic Modeling and Prompting to Teach Math Skills to Preschoolers With Disabilities

Early math skills predict later academic achievement and are of critical importance in preschool. There also are discrepancies in early math skills of preschoolers with disabilities compared with their typically developing peers. We used an experimental single-case research design, multiple probe across skills, to investigate the effectiveness of systematic modeling with mathematical language and a prompting procedure on increasing the early math skills of two preschoolers with disabilities or delays. A functional relation was observed for one participant. Equivocal findings may be due to the following: (a) challenges in assessing early math skills, which may have affected the identification of appropriate target skills, and (b) the involvement of multiple developmental domains in performing math skills, which may have affected the demonstration of target behaviors for the participant with significant fine motor and language delays.

Transforming Language Intervention: Collaborating With Latinx Families

Sylvia, an immigrant to the United States, is a loving mother to her 2 ½-year-old son, Emilio. As Emilio appeared to have significant language delays in his native language of Spanish, his pediatri...

Characterizing the early vocabulary profiles of preverbal and minimally verbal children with autism spectrum disorder.

Although preverbal and minimally verbal children with autism spectrum disorder represent a significant portion of the autism spectrum disorder population, we have a limited understanding of and characterization of them. Although it is a given that their lexical profiles contain fewer words, it is important to determine whether (a) the words preverbal and minimally verbal children with autism spectrum disorder produce are similar to the first words typically developing children produce or (b) there are unique features of the limited words that preverbal and minimally verbal children with autism spectrum disorder produce. The current study compared the early word profiles of preverbal and minimally verbal children with autism spectrum disorder to vocabulary-matched typically developing toddlers. Children with autism spectrum disorder produced proportionally more verbs than typically developing toddlers. Also, children with autism spectrum disorder produced proportionally more action and food words, while typically developing toddlers produced proportionally more animal words, animal sounds and sound effects, and people words. Children with autism spectrum disorder also produced "mommy" and "daddy" at lower rates. Our findings identified several areas of overlap in early word learning; however, our findings also point to differences that may be connected to core weaknesses in social communication (i.e. people words). The findings highlight words and categories that could serve as useful targets for communication intervention with preverbal and minimally verbal children with autism spectrum disorder.

Bilingualism in children with a dual diagnosis of Down syndrome and Autism Spectrum Disorder

ABSTRACT Research shows that a substantial proportion of children with Down syndrome (DS) also meet the clinical criteria for Autism Spectrum Disorder (ASD). Children with this dual diagnosis display a linguistic profile that includes significant language delays and language impairments which often differ from the impairments observed in each developmental disability (DD) separately. Given the challenges observed with language acquisition for children with DS-ASD, concerns might be raised regarding the outcomes and suitability of a bilingual environment for children with this dual diagnosis specifically. The aim of this research was to explore the language profiles of four children with DS-ASD. A multiple case-study approach was employed. Four children with a confirmed DS-ASD diagnosis who had received exposure to two languages (English and Welsh) were assessed on a range of cognitive and linguistic measures. Performance was compared to three control groups; bilinguals with DS, English monolinguals with DS and mental age-matched typically developing bilinguals. Assessments comprised of expressive and receptive language, phonological awareness, working memory and non-verbal cognitive abilities. Considerable variability was found in the cognitive and linguistic profiles of the case-study participants. Children with DS-ASD displayed similar language profiles to that of the bilingual and monolingual children with DS in the areas tested, although performance was generally lower than that of the TD bilingual children. Although substantial variability was found, participants were developing bilingual abilities in a similar trajectory to children with DS in line with the degree of exposure to each language. This research highlights the need to assess bilingual children with complex dual diagnoses with an individualistic approach and carefully consider how to appropriately assess and treat bilingual children within speech and language therapy provisions.

A Pivotal Response Treatment Package for Children With Autism Spectrum Disorder: An RCT.

Our aim was to conduct a randomized controlled trial to evaluate a pivotal response treatment package (PRT-P) consisting of parent training and clinician-delivered in-home intervention on the communication skills of children with autism spectrum disorder. Forty-eight children with autism spectrum disorder and significant language delay between 2 and 5 years old were randomly assigned to PRT-P (n = 24) or the delayed treatment group (n = 24) for 24 weeks. The effect of treatment on child communication skills was assessed via behavioral coding of parent-child interactions, standardized parent-report measures, and blinded clinician ratings. Analysis of child utterances during the structured laboratory observation revealed that, compared with the delayed treatment group, children in PRT-P demonstrated greater improvement in frequency of functional utterances (F1,41 = 6.07; P = .026; d = 0.61). The majority of parents in the PRT-P group (91%) were able to implement pivotal response treatment (PRT) with fidelity within 24 weeks. Children receiving PRT-P also demonstrated greater improvement on the Brief Observation of Social Communication Change, on the Clinical Global Impressions Improvement subscale, and in number of words used on a parent-report questionnaire. This is the first 24-week randomized controlled trial in which community treatment is compared with the combination of parent training and clinician-delivered PRT. PRT-P was effective for improving child social communication skills and for teaching parents to implement PRT. Additional research will be needed to understand the optimal combination of treatment settings, intensity, and duration, and to identify child and parent characteristics associated with treatment response.

The gesture–language association over time in toddlers with and without language delays

Background and aims Young children with language delays or other factors that heighten risk for autism spectrum disorder often show reduced gesture use. In particular, deictic gestures such as pointing and showing are reported to be deficient in young children with autism spectrum disorder, and their use has been found to predict expressive vocabulary development. The first aim of this study was to examine the production of two types of gestures (deictic and conventional) for two communicative functions (behavior regulation and joint attention) across two observational contexts in a sample of 18-month-old toddlers with significant language delays compared to typical controls. The second aim was to examine if and how gesture use (type and communicative function) at 18 months is associated with later receptive and expressive language. Methods Toddlers with significant language delays ( n = 30) or typical development ( n = 62) were drawn from longitudinal studies of early language delay as a risk factor for autism spectrum disorder. Toddlers identified with early language delay were classified based on a diagnosis of autism spectrum disorder ( n = 12) or non-autism spectrum disorder ( n = 18) after an evaluation at 36 months. Gestures were coded from video recordings of the Communication and Symbolic Behavior Scales Developmental Profile–Behavior Sample and a naturalistic parent–child interaction obtained at 18 months. Language outcomes included receptive and expressive age equivalents from the Mullen Scales of Early Learning and the number of words produced on the MacArthur–Bates Communicative Development Inventories. Results At 18 months, toddlers with language delay showed reduced deictic and conventional gesture use in both the Communication and Symbolic Behavior Scales Developmental Profile–Behavior Sample and parent–child interaction compared to toddlers with typical development. Within the language delay group, toddlers with an autism spectrum disorder diagnosis at outcome also produced significantly fewer deictic gestures than those without an autism spectrum disorder diagnosis across both communicative functions and observational contexts. While all groups of toddlers gestured more in the Communication and Symbolic Behavior Scales Developmental Profile–Behavior Sample, the mean difference in gesture use between the Communication and Symbolic Behavior Scales Developmental Profile–Behavior Sample and parent–child interaction was significantly larger in toddlers with typical development than language delay for deictic gestures, as compared to the difference between the two contexts for conventional gestures. In the combined sample, a significant association was found between deictic gestures used in the Communication and Symbolic Behavior Scales Developmental Profile–Behavior Sample and change in the number of words produced from 18 to 36 months, accounting for significant demographic and developmental confounders. Conclusions Findings show that early language delay is associated with reduced deictic and conventional gestures across observational contexts. Importantly, deictic gesture use, but not conventional, was associated with the development of expressive language in toddlers with and without language delays. Implications Deictic gestures play an important role in the development of expressive language in toddlers, including those with language delays. Assessment of young children with language delays should include evaluation of types of gestures used and communicative function of gestures, with assessments utilizing communicative temptations yielding higher rates of gesture production. Directly targeting both gesture type and function in early intervention may be important in facilitating the development of language.

Coordination is key: Joint attention and vocalisation in infant siblings of children with Autism Spectrum Disorder.

Research indicates that social communicative behaviours develop atypically during the second year in Autism Spectrum Disorder (ASD). This study evaluated whether these behaviours also differed in the extent to which they were coordinated across modalities. To measure joint attention behaviours (e.g., gaze shifts, gestures), vocalisations and their coordination among a cohort of infants with an older sibling with ASD (heightened risk-HR). This prospective longitudinal study examined 50 HR infants at 14, 18 and 24 months. The Early Social Communication Scales (ESCS)-a structured toy-play task that assesses infant joint attention behaviour-was administered to infants at each age point in the home. Infants' joint attention behaviours, vocalisations and instances where they overlapped were coded from videos. At 36 months, nine infants received an ASD diagnosis (HR-ASD), 15 had a significant language delay (HR-LD) and 26 were classified no diagnosis (HR-ND). Findings revealed that HR-ASD infants produced fewer advanced joint attention behaviours, and their vocalisations were less frequent and less advanced than HR-LD and HR-ND infants. Notably, HR-ASD infants also coordinated these behaviours together less frequently than their HR peers. Differences in the coordination of early communicative behaviours may have negative cascading effects on social and language development for infants who develop ASD. Current intervention practices may be complemented by efforts to increase the coordinated quality of communicative behaviours.

Longitudinal growth of receptive language in children with cerebral palsy between 18 months and 54 months of age.

We examined receptive language developmental trajectories between 18 months and 54 months for three clinical speech-language profile groups of children with cerebral palsy (those with speech motor involvement, without speech motor involvement, and with anarthria) and quantified differences from age-level expectations. We identified latent classes of comprehension development, related these classes to clinical profile groups, and examined how well early receptive language predicted outcomes. We used a prospective longitudinal design. Eighty-five children with cerebral palsy (43 females, 42 males) were followed longitudinally from 18 to 54 months of age. Children were seen two to eight times (322 data points). Children were classified into clinical profile groups. Language comprehension age-equivalent scores were the primary measures of interest. Children with anarthria had significant language delays, limited developmental change over time, and comprised their own latent class. Children with speech motor impairment had slight receptive language delays over time. Children with no speech motor impairment had age-appropriate receptive language over time. Early language comprehension scores were highly predictive of later latent profile group membership. Early language comprehension abilities are highly predictive of language comprehension growth trajectory and suggest that children with early language delay, particularly those who are non-speaking, should receive language intervention to support development. There are two growth trajectories for language comprehension among children with cerebral palsy. Children with speech motor impairment had a constant 6-month receptive language delay. Children without speech motor impairment had age-appropriate receptive language. Non-speaking children had significant receptive language delay. Early language comprehension change was highly predictive of later trajectory group.

Trajectories of cognitive development in toddlers with language delays

BackgroundToddlers with early language delays (LD) are at risk for developmental difficulties, including autism spectrum disorder (ASD). However, little is known about early cognitive skill acquisition in this population. AimsTo explore heterogeneity in cognitive development in toddlers with significant LD (n = 30) or typical development (n = 61), and how this relates to 36-month outcomes (ASD, non-ASD delays, or no delays). MethodsGrowth mixture modeling of nonverbal and verbal mental age (NVMA, VMA) scores from the Mullen Scales of Early Learning was conducted with data from 18, 24 and 36 months. ResultsA two-class NVMA solution was selected (Age Appropriate, 82%, Delayed, 18%); class membership was related to the no delay outcome, and although the proportion of toddlers with ASD in the Age-Expected class was 17% compared to 50% of toddlers with non-ASD delays, this difference was not statistically significant. The best-fitting model for VMA included three classes: Age Appropriate (66%), Delay Catch-Up (23%), Delayed (11%); class assignment differed by outcome. Children in the Delay Catch-Up class were more likely to have non-ASD delays compared to ASD, while the reverse was true in the Delayed class. ConclusionsCognitive development in toddlers with LD is heterogeneous, and delayed verbal trajectories relate to later ASD diagnosis.

A de novo 921 Kb microdeletion at 11q13.1 including neurexin 2 in a boy with developmental delay, deficits in speech and language without autistic behaviors

Microdeletions at 11q13.1 are very rare. At present only two patients with 11q13.1 deletion involving neurexin 2 (NRXN2) have been reported. Both patients exhibited autistic features, which supported the role of NRXN2 in autism pathogenicity. It is currently unknown whether heterozygous deletion of NRXN2 is of high penetrance or if it is sufficient to result in autism behaviors. Here we reported a 2-year-9-month old boy with developmental delay, short stature, significant language delay and other congenital anomalies. In contrast to previously reported cases, the boy did not present with autistic behaviors and did not meet the clinical diagnosis of autism. A de novo 921 kb microdeletion at 11q13.1 was detected by chromosomal microarray analysis (CMA). Whole Exome Sequencing (WES) was also employed for our patient. The deletion was confirmed and no additional pathogenic variants were detected. We compared our patient's genomic information and clinical features with those of two previously reported individuals. Three patients shared similar deleted intervals and had similar clinical features except for autistic behaviors. This study suggested that NRXN2 gene had incomplete penetrance for autistic behavioral phenotype. The finding is of interest for genetic counseling and clinical management to patients with NRXN2 defects.

Intact non-word repetition and similar error patterns in language-matched children with autism spectrum disorders: A pilot study

PurposeWe investigated whether enhanced auditory short-term memory may contribute to the learning of novel word forms in children with Autism Spectrum Disorder. We also evaluated whether delayed but qualitatively normal, versus atypical, cognitive processes underlie non-word repetition in this population via a detailed error analysis. MethodEnglish-speaking children with Autism Spectrum Disorder (who had significant language delay) and typically-developing children matched pairwise on language ability were compared on the Syllable Repetition Task (Shriberg et al., 2009). ResultsAll children exhibited better performance on stimuli of shorter vs. longer syllable length. In addition there was a significant interaction whereby children with Autism Spectrum Disorder performed better than typically-developing children at the longest syllable length. Repetition accuracy was significantly correlated with language level in both groups. In contrast, the relationship between Repetition accuracy and age was only marginally significant in the Autism Spectrum Disorder group and did not reach significance in the typically-developing group. This underscores the importance of language level to non-word repetition performance, and supports the practice of matching on language rather than age alone. An error analysis (Shriberg et al., 2012) showed many similarities between groups in terms of number of consonants deleted, encoding accuracy, and transcoding accuracy components of the task. However the Autism Spectrum Disorder group tended to display better auditory short-term memory with a medium effect size, though this did not reach significance given the small sample size. ConclusionThese findings extend evidence of delayed but qualitatively normal non-word repetition previously described in preadolescents with Autism Spectrum Disorder (Williams et al., 2013) to younger kindergarten-age children with Autism Spectrum Disorder and language delay, indicating that non-word repetition is not an area of specific difficulty for this population. With respect to enhanced auditory short-term memory, we found preliminary evidence of better memory for longer nonwords in children with Autism Spectrum Disorder compared to younger typically developing children who were matched on language.

15q13.3 microdeletion identified by High-density array in a Turner syndrome female with intellectual disability, significant language delay and autism

15q13.3 microdeletion identified by High-density array in a Turner syndrome female with intellectual disability, significant language delay and autism

Infants with Williams syndrome detect statistical regularities in continuous speech

Williams syndrome (WS) is a rare genetic disorder associated with delays in language and cognitive development. The reasons for the language delay are unknown. Statistical learning is a domain-general mechanism recruited for early language acquisition. In the present study, we investigated whether infants with WS were able to detect the statistical structure in continuous speech. Eighteen 8- to 20-month-olds with WS were familiarized with 2min of a continuous stream of synthesized nonsense words; the statistical structure of the speech was the only cue to word boundaries. They were tested on their ability to discriminate statistically-defined “words” and “part-words” (which crossed word boundaries) in the artificial language. Despite significant cognitive and language delays, infants with WS were able to detect the statistical regularities in the speech stream. These findings suggest that an inability to track the statistical properties of speech is unlikely to be the primary basis for the delays in the onset of language observed in infants with WS. These results provide the first evidence of statistical learning by infants with developmental delays.

An Interstitial Deletion at 7q33-36.1 in a Patient with Intellectual Disability, Significant Language Delay, and Severe Microcephaly.

Interstitial deletions of the distal 7q region are considered a rare entity. In this report, we describe a seven-year-old male with a heterozygous interstitial deletion at 7q33-36.1 with characteristic dysmorphic facial features, intellectual disability, severe microcephaly, and significant language delay. The primary focus of our report is to compare our case with the few others in the literature describing interstitial deletions at the long arm of chromosome 7. Based on the various breakpoints in prior studies, a number of phenotypic variations have been identified that are unique to each of the reports. However, there are also a number of similarities among these cases as well. We hope to provide a concise review of the literature and genes involved within our deletion sequence in the hope that it will contribute to creating a phenotypic profile for this patient population.

Stimulus-Stimulus Pairing to Increase Vocalizations in Children with Language Delays: a Review.

Stimulus-stimulus pairing (SSP) is a procedure used to increase vocalizations in children with significant language delays. However, results from studies that have examined the effectiveness of SSP have been discrepant. The following review of the literature summarizes the results from 13 experiments published between 1996 and 2014 that used this procedure with children with language delays. Studies were analyzed across various participant and procedural variables, and an effect size estimate (nonoverlap of all pairs) was calculated for a portion of the participants in the studies reviewed. Results indicated an overall moderate intervention effect for SSP of speech sounds. Recommendations are provided for future researchers about information to report and potential avenues for future studies.

Dance Therapy as a Treatment Modality for Autistic Children in Social Interaction

The current research topic “Dance movement therapy, as a treatment modality of autistic children in social interaction” includes five autistic children majorly having significant language delays with echolalia and video dialoguing restricted social communication and limited engagement in socially reciprocal activities, repetitive play patterns, resistance to change and difficulty in emotional responsiveness. The main aim of the study is to assess the effect of Dance Movement Therapy in social interaction of children with Autism Spectrum Disorder. The methodology used is Pre and Post design, in Pre-Intervention Phase, Childhood Autism Rating Scale (CARS) was administered; then as an intervention dance therapy was given and in Post Intervention Phase, Childhood Autism Rating Scale (CARS) was re- administered. The main focus of the study is considering social interaction deficits by providing the intervention of Dance Movement Therapy.

Language Development in Infants and Toddlers With Fragile X Syndrome: Change Over Time and the Role of Attention

Fragile X syndrome (FXS) is associated with significant language and communication delays, as well as problems with attention. This study investigated early language abilities in infants and toddlers with FXS (n = 13) and considered visual attention as a predictor of those skills. We found that language abilities increased over the study period of 9 to 24months, with moderate correlations among language assessments. In comparison to typically developing infants (n = 11), language skills were delayed beyond chronological age and developmental-level expectations. Aspects of early visual attention predicted later language ability. Atypical visual attention is an important aspect of the FXS phenotype with implications for early language development, particularly in the domain of vocabulary.