MED13L-related disorder characterized by severe motor speech impairment / Marissa W. MITCHEL in Journal of Neurodevelopmental Disorders, 17 (2025)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 17 (2025) Titre : MED13L-related disorder characterized by severe motor speech impairment Type de document : texte imprimé Auteurs : Marissa W. MITCHEL, Auteur ; Stefanie TURNER, Auteur ; Lauren K. WALSH, Auteur ; Rebecca I. TORENE, Auteur ; Scott M. MYERS, Auteur ; Cora M. TAYLOR, Auteur Langues : Anglais (eng) Mots-clés : Humans  Child  Male  Female  Adolescent  Cross-Sectional Studies  Child, Preschool  Young Adult  Mediator Complex/genetics  Intellectual Disability/genetics/physiopathology  Speech Disorders/genetics/physiopathology  Dysarthria/physiopathology/genetics  Med13l  Apraxia of speech  Dysarthria  Motor impairment  Speech disorders  consent for study participation was obtained from all participants or their legal  representatives. Ethics approval for this study was obtained from the Geisinger  Institutional Review Board (#00008345) under protocol #2013–0446. This research  was conducted in accordance with the Declaration of Helsinki. Consent for  publication: Not applicable. Competing interests: The authors declare no  competing interests. Index. décimale : PER Périodiques Résumé : BACKGROUND: MED13L-related disorder is associated with intellectual disability, motor delay, and speech deficits. Previous studies have focused on broad clinical descriptions of individuals, but limited information regarding specific speech diagnoses and results of direct testing has been published to date. We conducted deep phenotyping to characterize the speech, language, motor, cognitive, and adaptive phenotypes of individuals with MED13L-related disorder. METHODS: In this cross-sectional study, we administered standardized articulation, language, motor, and cognitive testing to 17 children and adolescents (mean age 9y 9m; SD 4y 5m; range 4y 2m to 19y 7m). In-person testing was supplemented with broad developmental, medical, and behavioral information collected virtually from a cohort of 67 individuals. RESULTS: All individuals who completed in-person articulation testing met diagnostic criteria for speech apraxia, dysarthria, or both. Language impairment was present in all of the in-person cohort and reported for almost all (97%) of the virtual cohort. Those who were able to complete motor testing demonstrated significant deficits in visual motor integration (mean 57.08, SD 9.26). Full scale IQs fell in the borderline to intellectual disability range, consistent with reported cognitive impairment in 97% of the virtual cohort. Notable medical features included hypotonia (83%), vision problems (72%), recurrent otitis media (58%), gastrointestinal problems (57%), and seizures (31%). CONCLUSIONS: MED13L-related disorder is characterized by a high rate of motor speech disorders that occur in the context of globally impaired motor, language, and cognitive skills. Children would benefit from early referrals to speech therapy to assess their speech, language, and support needs. En ligne : https://dx.doi.org/10.1186/s11689-025-09645-1 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=576 [article] MED13L-related disorder characterized by severe motor speech impairment [texte imprimé] / Marissa W. MITCHEL, Auteur ; Stefanie TURNER, Auteur ; Lauren K. WALSH, Auteur ; Rebecca I. TORENE, Auteur ; Scott M. MYERS, Auteur ; Cora M. TAYLOR, Auteur. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 17 (2025) Mots-clés : Humans  Child  Male  Female  Adolescent  Cross-Sectional Studies  Child, Preschool  Young Adult  Mediator Complex/genetics  Intellectual Disability/genetics/physiopathology  Speech Disorders/genetics/physiopathology  Dysarthria/physiopathology/genetics  Med13l  Apraxia of speech  Dysarthria  Motor impairment  Speech disorders  consent for study participation was obtained from all participants or their legal  representatives. Ethics approval for this study was obtained from the Geisinger  Institutional Review Board (#00008345) under protocol #2013–0446. This research  was conducted in accordance with the Declaration of Helsinki. Consent for  publication: Not applicable. Competing interests: The authors declare no  competing interests. Index. décimale : PER Périodiques Résumé : BACKGROUND: MED13L-related disorder is associated with intellectual disability, motor delay, and speech deficits. Previous studies have focused on broad clinical descriptions of individuals, but limited information regarding specific speech diagnoses and results of direct testing has been published to date. We conducted deep phenotyping to characterize the speech, language, motor, cognitive, and adaptive phenotypes of individuals with MED13L-related disorder. METHODS: In this cross-sectional study, we administered standardized articulation, language, motor, and cognitive testing to 17 children and adolescents (mean age 9y 9m; SD 4y 5m; range 4y 2m to 19y 7m). In-person testing was supplemented with broad developmental, medical, and behavioral information collected virtually from a cohort of 67 individuals. RESULTS: All individuals who completed in-person articulation testing met diagnostic criteria for speech apraxia, dysarthria, or both. Language impairment was present in all of the in-person cohort and reported for almost all (97%) of the virtual cohort. Those who were able to complete motor testing demonstrated significant deficits in visual motor integration (mean 57.08, SD 9.26). Full scale IQs fell in the borderline to intellectual disability range, consistent with reported cognitive impairment in 97% of the virtual cohort. Notable medical features included hypotonia (83%), vision problems (72%), recurrent otitis media (58%), gastrointestinal problems (57%), and seizures (31%). CONCLUSIONS: MED13L-related disorder is characterized by a high rate of motor speech disorders that occur in the context of globally impaired motor, language, and cognitive skills. Children would benefit from early referrals to speech therapy to assess their speech, language, and support needs. En ligne : https://dx.doi.org/10.1186/s11689-025-09645-1 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=576

Within-task variability on standardized language tests predicts autism spectrum disorder: a pilot study of the Response Dispersion Index / Abby E. HARE-HARRIS in Journal of Neurodevelopmental Disorders, 11-1 (December 2019)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 11-1 (December 2019) . - 21 p. Titre : Within-task variability on standardized language tests predicts autism spectrum disorder: a pilot study of the Response Dispersion Index Type de document : texte imprimé Auteurs : Abby E. HARE-HARRIS, Auteur ; Marissa W. MITCHEL, Auteur ; Scott M. MYERS, Auteur ; Aaron D. MITCHEL, Auteur ; Brian R. KING, Auteur ; Brittany G. RUOCCO, Auteur ; Christa Lese MARTIN, Auteur ; Judy F. FLAX, Auteur ; Linda M. BRZUSTOWICZ, Auteur Article en page(s) : 21 p. Langues : Anglais (eng) Mots-clés : Autism spectrum disorder  Developmental difference  Intra-subtest scatter  Language impairment Index. décimale : PER Périodiques Résumé : BACKGROUND: Qualitatively atypical language development characterized by non-sequential skill acquisition within a developmental domain, which has been called developmental deviance or difference, is a common characteristic of autism spectrum disorder (ASD). We developed the Response Dispersion Index (RDI), a measure of this phenomenon based on intra-subtest scatter of item responses on standardized psychometric assessments, to assess the within-task variability among individuals with language impairment (LI) and/or ASD. METHODS: Standard clinical assessments of language were administered to 502 individuals from the New Jersey Language and Autism Genetics Study (NJLAGS) cohort. Participants were divided into four diagnostic groups: unaffected, ASD-only, LI-only, and ASD + LI. For each language measure, RDI was defined as the product of the total number of test items and the sum of the weight (based on item difficulty) of test items missed. Group differences in RDI were assessed, and the relationship between RDI and ASD diagnosis among individuals with LI was investigated for each language assessment. RESULTS: Although standard scores were unable to distinguish the LI-only and ASD/ASD + LI groups, the ASD/ASD + LI groups had higher RDI scores compared to LI-only group across all measures of expressive, pragmatic, and metalinguistic language. RDI was positively correlated with quantitative ASD traits across all subgroups and was an effective predictor of ASD diagnosis among individuals with LI. CONCLUSIONS: The RDI is an effective quantitative metric of developmental deviance/difference that correlates with ASD traits, supporting previous associations between ASD and non-sequential skill acquisition. The RDI can be adapted to other clinical measures to investigate the degree of difference that is not captured by standard performance summary scores. En ligne : https://dx.doi.org/10.1186/s11689-019-9283-z Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=409 [article] Within-task variability on standardized language tests predicts autism spectrum disorder: a pilot study of the Response Dispersion Index [texte imprimé] / Abby E. HARE-HARRIS, Auteur ; Marissa W. MITCHEL, Auteur ; Scott M. MYERS, Auteur ; Aaron D. MITCHEL, Auteur ; Brian R. KING, Auteur ; Brittany G. RUOCCO, Auteur ; Christa Lese MARTIN, Auteur ; Judy F. FLAX, Auteur ; Linda M. BRZUSTOWICZ, Auteur . - 21 p. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 11-1 (December 2019) . - 21 p. Mots-clés : Autism spectrum disorder  Developmental difference  Intra-subtest scatter  Language impairment Index. décimale : PER Périodiques Résumé : BACKGROUND: Qualitatively atypical language development characterized by non-sequential skill acquisition within a developmental domain, which has been called developmental deviance or difference, is a common characteristic of autism spectrum disorder (ASD). We developed the Response Dispersion Index (RDI), a measure of this phenomenon based on intra-subtest scatter of item responses on standardized psychometric assessments, to assess the within-task variability among individuals with language impairment (LI) and/or ASD. METHODS: Standard clinical assessments of language were administered to 502 individuals from the New Jersey Language and Autism Genetics Study (NJLAGS) cohort. Participants were divided into four diagnostic groups: unaffected, ASD-only, LI-only, and ASD + LI. For each language measure, RDI was defined as the product of the total number of test items and the sum of the weight (based on item difficulty) of test items missed. Group differences in RDI were assessed, and the relationship between RDI and ASD diagnosis among individuals with LI was investigated for each language assessment. RESULTS: Although standard scores were unable to distinguish the LI-only and ASD/ASD + LI groups, the ASD/ASD + LI groups had higher RDI scores compared to LI-only group across all measures of expressive, pragmatic, and metalinguistic language. RDI was positively correlated with quantitative ASD traits across all subgroups and was an effective predictor of ASD diagnosis among individuals with LI. CONCLUSIONS: The RDI is an effective quantitative metric of developmental deviance/difference that correlates with ASD traits, supporting previous associations between ASD and non-sequential skill acquisition. The RDI can be adapted to other clinical measures to investigate the degree of difference that is not captured by standard performance summary scores. En ligne : https://dx.doi.org/10.1186/s11689-019-9283-z Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=409

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