Dataset Information

Clinical Characteristics and Genetic Etiology of Children With Developmental Language Disorder.

ABSTRACT: Objective: Developmental language delay (DLD) is one of the most common disabilities in childhood and can negatively affect a child's communication skills and academic and/or psychosocial development. To date, an increasing number of causative genes have been identified by diagnostic techniques like next generation sequencing. An early genetic diagnosis is important to properly prepare and counsel children and parents for possible future difficulties. Despite this, genetic assessment is usually not part of a standardized diagnostic set in children with developmental language delay. In this study, we aim to assess the diagnostic outcomes of children primarily assessed for speech and language delay who were subsequently referred for genetic etiological assessment. Methods: Medical records of children referred to the department of Otorhinolaryngology of the Wilhelmina Children's Hospital for diagnostic work-up for a suspected speech and language delay between June 2011 and December 2018 who were additionally referred to a geneticist were evaluated. Study parameters concerning medical history, behavioral problems, language development, intelligence, and hearing were recorded. Outcomes of genetic analysis were evaluated. Results: A total of 127 patients were diagnosed with a developmental language delay. Genetic analysis was conducted in 119 out of 127 patients with a language delay and eligible for this study. The median time between initial speech and language assessment and the first genetic consultation was 10 months (IQR 5.0-23.0). In 34 out of 127 patients a causative genetic diagnosis was found to explain their DLD. Conclusion: In approximately a quarter of the patients (26.8%) diagnosed with developmental language delay, a causative genetic diagnosis was confirmed. This demonstrates the opportunity to identify an underlying genetic etiology in children with developmental language delay. However, in order to optimize the diagnostic process and clinical care for these children, two important research gaps need to be addressed. First, research should focus on assessing the clinical impact and effect on treatment outcomes of a genetic diagnosis. Secondly, it is important to recognize for which children genetic testing is most beneficial.

SUBMITTER: Plug MB

PROVIDER: S-EPMC8282268 | biostudies-literature |

REPOSITORIES: biostudies-literature

ACCESS DATA

Similar Datasets

Project description:Developmental language disorder (DLD) is characterised by difficulties in learning one's native language for no apparent reason. These language difficulties occur in 7% of children and are known to limit future academic and social achievement. Our understanding of the brain abnormalities associated with DLD is limited. Here, we used a simple four-minute verb generation task (children saw a picture of an object and were instructed to say an action that goes with that object) to test children between the ages of 10-15 years (DLD N = 50, typically developing N = 67). We also tested 26 children with poor language ability who did not meet our criteria for DLD. Contrary to our registered predictions, we found that children with DLD did not have (i) reduced activity in language relevant regions such as the left inferior frontal cortex; (ii) dysfunctional striatal activity during overt production; or (iii) a reduction in left-lateralised activity in frontal cortex. Indeed, performance of this simple language task evoked activity in children with DLD in the same regions and to a similar level as in typically developing children. Consistent with previous reports, we found sub-threshold group differences in the left inferior frontal gyrus and caudate nuclei, but only when analysis was limited to a subsample of the DLD group (N = 14) who had the poorest performance on the task. Additionally, we used a two-factor model to capture variation in all children studied (N = 143) on a range of neuropsychological tests and found that these language and verbal memory factors correlated with activity in different brain regions. Our findings indicate a lack of support for some neurological models of atypical language learning, such as the procedural deficit hypothesis or the atypical lateralization hypothesis, at least when using simple language tasks that children can perform. These results also emphasise the importance of controlling for and monitoring task performance.

Project description:We examined whether children with developmental language disorder (DLD) differed from their peers with typical development (TD) in the degree to which they encode information about a talker's mouth shape into long-term phonemic representations. Children watched a talker's face and listened to rare changes from [i] to [u] or the reverse. In the neutral condition, the talker's face had a closed mouth throughout. In the audiovisual violation condition, the mouth shape always matched the frequent vowel, even when the rare vowel was played. We hypothesized that in the neutral condition no long-term audiovisual memory traces for speech sounds would be activated. Therefore, the neural response elicited by deviants would reflect only a violation of the observed audiovisual sequence. In contrast, we expected that in the audiovisual violation condition, a long-term memory trace for the speech sound/lip configuration typical for the frequent vowel would be activated. In this condition then, the neural response elicited by rare sound changes would reflect a violation of not only observed audiovisual patterns but also of a long-term memory representation for how a given vowel looks when articulated. Children pressed a response button whenever they saw a talker's face assume a silly expression. We found that in children with TD, rare auditory changes produced a significant mismatch negativity (MMN) event-related potential (ERP) component over the posterior scalp in the audiovisual violation condition but not in the neutral condition. In children with DLD, no MMN was present in either condition. Rare vowel changes elicited a significant P3 in both groups and conditions, indicating that all children noticed auditory changes. Our results suggest that children with TD, but not children with DLD, incorporate visual information into long-term phonemic representations and detect violations in audiovisual phonemic congruency even when they perform a task that is unrelated to phonemic processing.

Project description:Purpose Word learning difficulties have been documented in multiple studies involving children with dyslexia and developmental language disorder (DLD; see also specific language impairment). However, no previous studies have directly contrasted word learning in these two frequently co-occurring disorders. We examined word learning in second-grade students with DLD-only and dyslexia-only as compared to each other, peers with both disorders (DLD + dyslexia), and peers with typical development. We hypothesized that children with dyslexia-only and DLD-only would show differences in word learning due to differences in their core language strengths and weaknesses. Method Children (N = 244) were taught eight novel pseudowords paired with unfamiliar objects. The teaching script included multiple exposures to the phonological form, the pictured object, a verbal semantic description of the object, and spaced retrieval practice opportunities. Word learning was assessed immediately after instruction with tasks requiring recall or recognition of the phonological and semantic information. Results Children with dyslexia-only performed significantly better on existing vocabulary measures than their peers with DLD-only. On experimental word learning measures, children in the dyslexia-only and DLD + dyslexia groups showed significantly poorer performance than typically developing children on all word learning tasks. Children with DLD-only differed significantly from the TD group on a single word learning task assessing verbal semantic recall. Conclusions Overall, results indicated that children with dyslexia display broad word learning difficulties extending beyond the phonological domain; however, this contrasted with their relatively strong performance on measures of existing vocabulary knowledge. More research is needed to understand relations between word learning abilities and overall vocabulary knowledge and how to close vocabulary gaps for children with both disorders. Supplemental Material https://doi.org/10.23641/asha.14832717.

Dataset Information

Clinical Characteristics and Genetic Etiology of Children With Developmental Language Disorder.

Similar Datasets

OmicsDI is part of the ELIXIR infrastructure

Tweets