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Diagnostics
Special Issues
Rett Syndrome and Other Neurodevelopmental Disorders: Diagnosis and Assessment
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Rett Syndrome and Other Neurodevelopmental Disorders: Diagnosis and Assessment

A special issue of Diagnostics (ISSN 2075-4418). This special issue belongs to the section "Pathology and Molecular Diagnostics".

Deadline for manuscript submissions: closed (31 August 2023) | Viewed by 1235

Special Issue Editor

Prof. Dr. Meir Lotan

E-Mail Website
Guest Editor
1. Israeli Rett Syndrome National Evaluation Team, Sheba Hospital, Ramat-Gan, Israel
2. Department of Physiotherapy, Ariel University, Ariel, Israel
Interests: developmental disabilities; autism; intellectual and developmental disabilities; Rett syndrome

Special Issue Information

Dear Colleagues, 

Rett syndrome is a neurodevelopmental disorder that affects girls almost exclusively. Symptoms include impairments in language and coordination and repetitive movements. Complications may include seizures, scoliosis, and sleeping problems. Other neurodevelopmental disorders, such as attention-deficit hyperactivity disorder, developmental coordination disorder, intellectual disability, autism spectrum disorder, and so on will also seriously affect human normal life and learning. This Special Issue will focus on the latest advances in the diagnosis and assessment of patients with neurodevelopmental disorders. We welcome researchers to submit their original research, comprehensive reviews, and other article types.

Prof. Dr. Meir Lotan
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. Diagnostics is an international peer-reviewed open access semimonthly 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 2600 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

  • intellectual disability
  • developmental disability
  • Rett syndrome
  • autism
  • attention-deficit hyperactivity disorder
  • developmental coordination disorder
  • tic disorders such as Tourette’s disorder
  • specific learning disorder
  • child-onset fluency disorder (stuttering)
  • speech sound disorder

Published Papers (1 paper)

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Research

19 pages, 1898 KiB  
Article
Profiling the Longitudinal Development of Babbling in Infants with Cerebral Palsy: Validation of the Infant Monitor of Vocal Production (IMP) Using the Stark Assessment of Early Vocal Development-Revised (SAEVD-R)
by Roslyn Ward, Neville Hennessey, Elizabeth Barty, Robyn Cantle Moore, Catherine Elliott and Jane Valentine
Diagnostics 2023, 13(23), 3517; https://doi.org/10.3390/diagnostics13233517 - 23 Nov 2023
Viewed by 585
Abstract
Aim: We compared early vocal development in children “at risk” for cerebral palsy (CP) with typically developing (TD) infants aged 6 to 15 months using the SAEVD-R, investigating potential pre-linguistic markers of communication impairment. Additionally, we sought to examine the agreement between the [...] Read more.
Aim: We compared early vocal development in children “at risk” for cerebral palsy (CP) with typically developing (TD) infants aged 6 to 15 months using the SAEVD-R, investigating potential pre-linguistic markers of communication impairment. Additionally, we sought to examine the agreement between the SAEVD-R and IMP, which uses parent report, in identifying departure from typical vocal development in at-risk infants. Method: Utilising a longitudinal cohort study, >10,000 vocalisations of 33 infants (15 at risk for CP and 18 TD) were assessed at 6, 9, 12, and 15 months using the SAEVD-R. Generalised linear mixed models (GLMMs) compared groups, and Spearman correlations explored IMP ceiling scores and SAEVD-R measures. Results: At 6 months, both TD and CP groups reached SAEVD-R vocalisation level 3 (expansion). By 9 months, 51% of TD infants progressed to advanced babbling (levels 4 and 5), while 80% of at-risk infants remained at level 3. At 12 and 15 months, over 90% of TD children advanced, compared to 67% at 12 months and 53% at 15 months for at-risk infants, who stayed at the pre-canonical stage. Strong correlations were found between IMP scores and vocalisation levels at 9 and 12 months. Remaining at the pre-canonical stage at 12 months correlated with delayed vocal development as per IMP scores. Interpretation: TD infants achieved higher SAEVD-R levels than at-risk infants. At 12 months, IMP scores effectively identified infants with speech-like vocalisation difficulties, demonstrating its clinical utility in identifying atypical vocal development in infants at risk for CP. Full article
(This article belongs to the Special Issue Rett Syndrome and Other Neurodevelopmental Disorders: Diagnosis and Assessment)
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