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Brain Sciences
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Neurodevelopmental Phenotyping to Inform Treatment in Neurogenetic Syndromes
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Neurodevelopmental Phenotyping to Inform Treatment in Neurogenetic Syndromes

A special issue of Brain Sciences (ISSN 2076-3425). This special issue belongs to the section "Neuropsychology".

Deadline for manuscript submissions: closed (15 April 2022) | Viewed by 11562

Special Issue Editor

Prof. Dr. Deborah Fidler

E-Mail Website
Guest Editor
Human Development and Family Studies, Colorado State University, Fort Collins, CO 80523, USA
Interests: neurogenetic syndromes; intellectual disability; cognitive phenotypes

Special Issue Information

Dear Colleagues,

I hope that you will consider submitting a new manuscript for review and potential publication in the upcoming Brain Sciences special issue titled, “Neurodevelopmental Phenotyping to Inform Novel Treatment in Neurogenetic Syndromes.”

A critical goal for translational research in neurogenetic syndromes is to identify developmental, behavioral, and pharmaceutical treatments that address neurodevelopmental challenges associated with specific conditions (e.g., Down syndrome, fragile X syndrome, Angelman syndrome, Rett syndrome). Innovations in this area have the potential to offer novel and effective biomedical and behavioral intervention for individuals with specific neurogenetic conditions; however, there are gaps in our knowledge that hinder the readiness of treatments, namely the need for (1) validated outcome measures that quantify the effects of new treatments on cognition and behavior in specific conditions; and (2) more advanced characterizations of neurodevelopmental heterogeneity within specific conditions to inform treatment development.

Submissions for this Special Issue may cover the following topics:

  1. The development and testing of novel outcome measures for use in future treatment studies for specific neurogenetic conditions;
  2. The evaluation of existing assessments for use as outcome measures within a particular condition;
  3. The evaluation of adaptations of current measures for use with individuals with particular conditions;
  4. The characterization of within-syndrome heterogeneity along neurodevelopmental dimensions that may serve as targets for intervention; and
  5. The development of screening and surveillance procedures to identify those with a particular neurogenetic condition who may be in need of specific treatments.

Prof. Dr. Deborah Fidler
Guest Editor

Manuscript Submission Information

Manuscripts should be submitted online at www.mdpi.com by registering and logging in to this website. Once you are registered, click here to go to the submission form. Manuscripts can be submitted until the deadline. All submissions that pass pre-check are peer-reviewed. Accepted papers will be published continuously in the journal (as soon as accepted) and will be listed together on the special issue website. Research articles, review articles as well as short communications are invited. For planned papers, a title and short abstract (about 100 words) can be sent to the Editorial Office for announcement on this website.

Submitted manuscripts should not have been published previously, nor be under consideration for publication elsewhere (except conference proceedings papers). All manuscripts are thoroughly refereed through a single-blind peer-review process. A guide for authors and other relevant information for submission of manuscripts is available on the Instructions for Authors page. Brain Sciences is an international peer-reviewed open access monthly journal published by MDPI.

Please visit the Instructions for Authors page before submitting a manuscript. The Article Processing Charge (APC) for publication in this open access journal is 2200 CHF (Swiss Francs). Submitted papers should be well formatted and use good English. Authors may use MDPI's English editing service prior to publication or during author revisions.

Keywords

  • neurogenetic syndrome
  • behavioral phenotypes
  • treatment
  • heterogeneity
  • outcome measures

 

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Further information on MDPI's Special Issue policies can be found here.

Published Papers (4 papers)

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Research

14 pages, 460 KiB  
Article
Profiles of Caregiver-Reported Executive Function in Children with Down Syndrome
by Kaylyn Van Deusen, Mark A. Prince, Anna J. Esbensen, Jamie O. Edgin, Emily K. Schworer, Angela John Thurman, Lina R. Patel, Lisa A. Daunhauer and Deborah J. Fidler
Brain Sci. 2022, 12(10), 1333; https://doi.org/10.3390/brainsci12101333 - 1 Oct 2022
Cited by 7 | Viewed by 2158
Abstract
Children with Down syndrome (DS) are at risk for challenges with aspects of executive function (EF). The current study explores whether heterogeneity in EF profiles can be detected within a sample of children with DS. Participants were 69 children with DS, ages 3–10 [...] Read more.
Children with Down syndrome (DS) are at risk for challenges with aspects of executive function (EF). The current study explores whether heterogeneity in EF profiles can be detected within a sample of children with DS. Participants were 69 children with DS, ages 3–10 years (M = 6.23, SD = 1.91). T-scores from a caregiver-report measure of executive function were modeled using latent profile analysis, and auxiliary analyses examined the association between demographic and biomedical factors and probability of profile membership. The two-profile solution was the best fit for the sample, with a profile that involved elevated scores in working memory only (“Working Memory Only” profile; 43% of sample) and a “Multi-Domain” profile that involved elevated scores in planning, inhibition, and working memory (57%). The presence of congenital heart defects was associated with a higher probability of assignment to the Multi-Domain profile. Findings from this study contribute to the characterization of heterogeneous outcomes associated with DS. Full article
(This article belongs to the Special Issue Neurodevelopmental Phenotyping to Inform Treatment in Neurogenetic Syndromes)
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15 pages, 776 KiB  
Article
Defining Expressive Language Benchmarks for Children with Down Syndrome
by Angela John Thurman, Lauren Bullard, Leona Kelly, Caitlyn Wong, Vivian Nguyen, Anna J. Esbensen, Jennifer Bekins, Emily K. Schworer, Deborah J. Fidler, Lisa A. Daunhauer, Carolyn B. Mervis, C. Holley Pitts, Angela M. Becerra and Leonard Abbeduto
Brain Sci. 2022, 12(6), 743; https://doi.org/10.3390/brainsci12060743 - 6 Jun 2022
Cited by 5 | Viewed by 2902
Abstract
Establishing expressive language benchmarks (ELBs) for children with Down syndrome (DS), as developed by Tager-Flusberg et al. for children with autism, is critically needed to inform the development of novel treatments, identify individualized treatment targets, and promote accurate monitoring of progress. In the [...] Read more.
Establishing expressive language benchmarks (ELBs) for children with Down syndrome (DS), as developed by Tager-Flusberg et al. for children with autism, is critically needed to inform the development of novel treatments, identify individualized treatment targets, and promote accurate monitoring of progress. In the present study, we assessed ELB assignments in three language domains (phonology, vocabulary, and grammar) for 53 young children with DS (CA range: 2.50–7.99 years) using standardized assessments. The participants were classified into one of four ELB levels (preverbal, first words, word combinations, and sentences) in each language domain. Associations with additional measures of language, chronological age, nonverbal cognition, and verbal short-term memory were considered. Analyses of individual ELB profiles indicated substantial variability across the three language domains, with six different patterns of variation across domains emerging. At the same time, the ELB categories were significantly associated with independent language measures and broader developmental domains. Moreover, ELB changes were observed in a small sample of children with DS reassessed 18–24 months after the initial visit. Results from the present study suggest the procedures outlined by Tager-Flusberg et al. for defining ELBs are a potentially useful tool for describing the language abilities of children with DS. Full article
(This article belongs to the Special Issue Neurodevelopmental Phenotyping to Inform Treatment in Neurogenetic Syndromes)
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16 pages, 308 KiB  
Article
Analysis of a Repetitive Language Coding System: Comparisons between Fragile X Syndrome, Autism, and Down Syndrome
by Anne Hoffmann, Angela John Thurman, Audra Sterling, Sara T. Kover, Lizbeth Finestack, Elizabeth Berry-Kravis, Jamie O. Edgin, Andrea Drayton, Eric Fombonne and Leonard Abbeduto
Brain Sci. 2022, 12(5), 575; https://doi.org/10.3390/brainsci12050575 - 29 Apr 2022
Cited by 5 | Viewed by 2743
Abstract
Expressive language sampling (ELS) is a frequently used tool for language analysis, as it can be used across widely ranging cognitive and language abilities. ELS can also evaluate pragmatic language, including excessive self-repetition, which is challenging to assess with traditional standardized assessments. This [...] Read more.
Expressive language sampling (ELS) is a frequently used tool for language analysis, as it can be used across widely ranging cognitive and language abilities. ELS can also evaluate pragmatic language, including excessive self-repetition, which is challenging to assess with traditional standardized assessments. This study explored how a well-established ELS protocol can assess three types of linguistic self-repetition in three neurodevelopmental disabilities: fragile X syndrome (FXS), autism spectrum disorder (ASD), and Down syndrome (DS). We examined its ability to differentiate between these disorders, the relationships between repetitive language and other participant characteristics, and initial construct validity. We found that the groups with FXS and ASD differed significantly on each of the three repetitive language measure, and that the group with DS differed from either ASD or FXS on two. Cognitive ability was significantly related to phrase repetition in the group with ASD. When the groups were combined, there was evidence of convergent and divergent validity. This study extends previous research on ELS and supports its use as a means to characterize pragmatic language. It also provides information about the relationships between repetitive language and other phenotypic characteristics. Full article
(This article belongs to the Special Issue Neurodevelopmental Phenotyping to Inform Treatment in Neurogenetic Syndromes)
13 pages, 506 KiB  
Article
Semantic Verbal Fluency in Youth with Down Syndrome: Analysis of Conventional and Contextual Cluster Formation
by Emily K. Schworer, Shequanna Belizaire, Emily K. Hoffman and Anna J. Esbensen
Brain Sci. 2022, 12(1), 9; https://doi.org/10.3390/brainsci12010009 - 23 Dec 2021
Cited by 3 | Viewed by 3058
Abstract
Expressive language delays and executive functioning challenges are common in youth with Down syndrome (DS). Verbal fluency is one method to investigate these constructs. We examined semantic verbal fluency responses to determine patterns in response generation and the psychometric properties of coded cluster [...] Read more.
Expressive language delays and executive functioning challenges are common in youth with Down syndrome (DS). Verbal fluency is one method to investigate these constructs. We examined semantic verbal fluency responses to determine patterns in response generation and the psychometric properties of coded cluster formations. Participants were 97 children and adolescents with DS ranging in age from 6 to 19 years old. The semantic verbal fluency task was administered at two time points, two weeks apart. Heterogeneity in performance was observed for responses when coded either with conventional or contextual classifications. Overall, the number of switches in conventional classifications was greater than contextual classifications. This implies that participants did not use traditional (conventional) categories to organize their semantic verbal fluency responses, but may have been using contextual strategies. However, the number of switches and cluster size variables had poor to moderate test–retest reliability, which indicated that participants did not stay consistent with their performance over the two-week testing interval, regardless of the strategies used. Therefore, conventional and contextual clusters and switches as a measure of executive control may not be appropriate for all individuals with DS and additional attention is warranted to determine the utility of response coding in this population. Full article
(This article belongs to the Special Issue Neurodevelopmental Phenotyping to Inform Treatment in Neurogenetic Syndromes)
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