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Developmental profile of speech-language and communicative functions in an individual with the preserved speech variant of Rett syndrome.

ABSTRACT: OBJECTIVE:We assessed various aspects of speech-language and communicative functions of an individual with the preserved speech variant of Rett syndrome (RTT) to describe her developmental profile over a period of 11 years. METHODS:For this study, we incorporated the following data resources and methods to assess speech-language and communicative functions during pre-, peri- and post-regressional development: retrospective video analyses, medical history data, parental checklists and diaries, standardized tests on vocabulary and grammar, spontaneous speech samples and picture stories to elicit narrative competences. RESULTS:Despite achieving speech-language milestones, atypical behaviours were present at all times. We observed a unique developmental speech-language trajectory (including the RTT typical regression) affecting all linguistic and socio-communicative sub-domains in the receptive as well as the expressive modality. CONCLUSION:Future research should take into consideration a potentially considerable discordance between formal and functional language use by interpreting communicative acts on a more cautionary note.

SUBMITTER: Marschik PB

PROVIDER: S-EPMC5951270 | biostudies-literature | 2014 Aug

REPOSITORIES: biostudies-literature

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Developmental profile of speech-language and communicative functions in an individual with the preserved speech variant of Rett syndrome.

Marschik Peter B PB Vollmann Ralf R Bartl-Pokorny Katrin D KD Green Vanessa A VA van der Meer Larah L Wolin Thomas T Einspieler Christa C

Developmental neurorehabilitation 20130719 4

<h4>Objective</h4>We assessed various aspects of speech-language and communicative functions of an individual with the preserved speech variant of Rett syndrome (RTT) to describe her developmental profile over a period of 11 years.<h4>Methods</h4>For this study, we incorporated the following data resources and methods to assess speech-language and communicative functions during pre-, peri- and post-regressional development: retrospective video analyses, medical history data, parental checklists ...[more]

PMID: 23870013

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Project description:Although a growing literature points to substantial variation in speech/language abilities related to individual differences in musical abilities, mainstream models of communication sciences and disorders have not yet incorporated these individual differences into childhood speech/language development. This article reviews three sources of evidence in a comprehensive body of research aligning with three main themes: (a) associations between musical rhythm and speech/language processing, (b) musical rhythm in children with developmental speech/language disorders and common comorbid attentional and motor disorders, and (c) individual differences in mechanisms underlying rhythm processing in infants and their relationship with later speech/language development. In light of converging evidence on associations between musical rhythm and speech/language processing, we propose the Atypical Rhythm Risk Hypothesis, which posits that individuals with atypical rhythm are at higher risk for developmental speech/language disorders. The hypothesis is framed within the larger epidemiological literature in which recent methodological advances allow for large-scale testing of shared underlying biology across clinically distinct disorders. A series of predictions for future work testing the Atypical Rhythm Risk Hypothesis are outlined. We suggest that if a significant body of evidence is found to support this hypothesis, we can envision new risk factor models that incorporate atypical rhythm to predict the risk of developing speech/language disorders. Given the high prevalence of speech/language disorders in the population and the negative long-term social and economic consequences of gaps in identifying children at-risk, these new lines of research could potentially positively impact access to early identification and treatment. This article is categorized under: Linguistics > Language in Mind and Brain Neuroscience > Development Linguistics > Language Acquisition.

Project description:ImportanceProblems with speech in patients with facial paralysis are frequently noted by both clinicians and the patients themselves, but limited research exists describing how facial paralysis affects verbal communication.ObjectiveTo assess the influence of facial paralysis on communicative participation.Design, setting, and participantsA nationwide online survey of 160 adults with unilateral facial paralysis was conducted from March 1 to June 1, 2017. To assess communicative participation, respondents completed the Communicative Participation Item Bank (CPIB) Short Form questionnaire and the Facial Clinimetric Evaluation (FaCE) Scale.Main outcomes and measuresThe CPIB Short Form and the correlation between the CPIB Short Form and FaCE Scale. In the CPIB, the level of interference in communication is rated on a 4-point Likert scale (where not at all = 3, a little = 2, quite a bit = 1, and very much = 0). Total scores for the 10 items range from 0 (worst) to 30 (best). The FaCE Scale is a 15-item instrument that produces an overall score ranging from 0 (worst) to 100 (best), with higher scores representing better function and higher quality of life.ResultsOf the 160 respondents, 145 (90.6%) were women and 15 were men (mean [SD] age, 45.1 [12.6] years). Most respondents reported having facial paralysis for more than 3 years. Causes of facial paralysis included Bell palsy (86 [53.8%]), tumor (41 [25.6%]), and other causes (33 [20.6%]), including infection, trauma, congenital defects, and surgical complications. The mean (SD) score on the CPIB Short Form was 0.16 (0.88) logits (range, -2.58 to 2.10 logits). The mean (SD) score of the FaCE Scale was 40.92 (16.05) (range, 0-83.3). Significant correlations were observed between the CPIB Short Form and overall FaCE Scale scores, as well as the Social Function, Oral Function, Facial Comfort, and Eye Comfort subdomains of the FaCE Scale, but not with the Facial Movement subdomain.Conclusions and relevancePatients with facial paralysis in this study sample reported restrictions in communicative participation that were comparable with restrictions experienced by patients with other known communicative disorders, such as laryngectomy and head and neck cancer. We believe that communicative participation represents a unique domain of dysfunction and can help quantify the outcome of facial paralysis and provide an additional frame of reference when assessing treatment outcomes.

Dataset Information

Developmental profile of speech-language and communicative functions in an individual with the preserved speech variant of Rett syndrome.

Publications

Developmental profile of speech-language and communicative functions in an individual with the preserved speech variant of Rett syndrome.

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