Association of Developmental Language Disorder With Comorbid Developmental Conditions Using Algorithmic Phenotyping

Abstract

ImportanceDevelopmental language disorder (DLD) is a common (with up to 7% prevalence) yet underdiagnosed childhood disorder whose underlying biological profile and comorbidities are not fully understood, especially at the population level.ObjectiveTo identify clinically relevant conditions that co-occur with DLD at the population level.Design, Setting, and ParticipantsThis case-control study used an electronic health record (EHR)–based population-level approach to compare the prevalence of comorbid health phenotypes between DLD cases and matched controls. These cases were identified using the Automated Phenotyping Tool for Identifying Developmental Language Disorder algorithm of the Vanderbilt University Medical Center EHR, and a phenome enrichment analysis was used to identify comorbidities. An independent sample was selected from the Geisinger Health System EHR to test the replication of the phenome enrichment using the same phenotyping and analysis pipeline. Data from the Vanderbilt EHR were accessed between March 2019 and October 2020, while data from the Geisinger EHR were accessed between January and March 2022.Main Outcomes and MeasuresCommon and rare comorbidities of DLD at the population level were identified using EHRs and a phecode-based enrichment analysis.ResultsComorbidity analysis was conducted for 5273 DLD cases (mean [SD] age, 16.8 [7.2] years; 3748 males [71.1%]) and 26 353 matched controls (mean [SD] age, 14.6 [5.5] years; 18 729 males [71.1%]). Relevant phenotypes associated with DLD were found, including learning disorder, delayed milestones, disorders of the acoustic nerve, conduct disorders, attention-deficit/hyperactivity disorder, lack of coordination, and other motor deficits. Several other health phenotypes not previously associated with DLD were identified, such as dermatitis, conjunctivitis, and weight and nutrition, representing a new window into the clinical complexity of DLD.Conclusions and RelevanceThis study found both rare and common comorbidities of DLD. Comorbidity profiles may be leveraged to identify risk of additional health challenges, beyond language impairment, among children with DLD.

Language Skills in Children with Attention Deficit Hyperactivity Disorder and Developmental Language Disorder: A Systematic Review

“…In this context, some studies have found the coexistence of these conditions had an additional effect on the educational results of children [23,24]. In fact, children with DLD may have attention deficits that are not significant enough to warrant a diagnosis of ADHD, but still affect their learning in the classroom [25].…”

Assessment and Documentation of Language Disorders in Young Children: Challenges and Opportunities

“…Extant research has primarily focused on childhood developmental disorders, including autism spectrum disorder and attention-deficit/ hyperactivity disorder, but not as much on large-scale studies of speech and language. 22 An Automated Phenotyping Tool for Identifying Developmental Language Disorder algorithm has been developed and used in singlecenter studies. 21 Given the lack of data about the trajectory of speech and language disorders in young children and the need for more data in this area, a rigorous approach to gathering and documenting speech and language data at the time of initial DBP evaluation and diagnosis should be a priority for our field.…”

The effect(s) of medication on language in Attention Deficit-Hyperactivity Disorder: A scoping review protocol

“…A clear understanding of the influence of medication on language outcomes is of critical relevance to speech pathologists working with child and adult populations given the co-occurrence of ADHD with conditions such as dyslexia, developmental language disorder, and autism, as well as the growing recognition of the subclinical language differences associated with ADHD (Germanò et al, 2010;Nitin et al, 2022). Speech pathologists are likely to work as part of multidisciplinary teams, so knowing how medication impacts language skills allows for greater treatment coordination with other health professionals, such as psychiatrists or general practitioners prescribing medication.…”