2 recherche sur le mot-clé 'Spinal muscular atrophy'

Intellectual abilities, language comprehension, speech, and motor function in children with spinal muscular atrophy type 1 / Grazia ZAPPA in Journal of Neurodevelopmental Disorders, 13 (2021)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 13 (2021) Titre : Intellectual abilities, language comprehension, speech, and motor function in children with spinal muscular atrophy type 1 Type de document : texte imprimé Auteurs : Grazia ZAPPA, Auteur ; Antonella LOMAURO, Auteur ; Giovanni BARANELLO, Auteur ; Emilia CAVALLO, Auteur ; Priscilla CORTI, Auteur ; Chiara MASTELLA, Auteur ; Maria Antonella COSTANTINO, Auteur Langues : Anglais (eng) Mots-clés : Child  Child, Preschool  Cognition  Comprehension  Female  Humans  Male  Muscular Atrophy, Spinal  Retrospective Studies  Speech  Children  Cognitive development  Language  SMA type 1  Spinal muscular atrophy Index. décimale : PER Périodiques Résumé : BACKGROUND: Spinal muscular atrophy (SMA) is a chronic, neuromuscular disease characterized by degeneration of spinal cord motor neurons, resulting in progressive muscular atrophy and weakness. SMA1 is the most severe form characterized by significant bulbar, respiratory, and motor dysfunction. SMA1 prevents children from speaking a clearly understandable and fluent language, with their communication being mainly characterized by eye movements, guttural sounds, and anarthria (type 1a); severe dysarthria (type 1b); and nasal voice and dyslalia (type 1c). The aim of this study was to analyze for the first time cognitive functions, language comprehension, and speech in natural history SMA1 children according to age and subtypes, to develop cognitive and language benchmarks that provide outcomes for the clinical medication trials that are changing SMA1 course/trajectory. METHODS: This is a retrospective study including 22 children with SMA1 (10 affected by subtype 1a-1b: AB and 12 by 1c: C) aged 3-11 years in clinical stable condition with a coded way to communicate "yes" and "no". Data from the following assessments have been retrieved from patient charts: one-dimensional Raven test (RCPM), to evaluate cognitive development (IQ); ALS Severity Score (ALSSS) to evaluate speech disturbances; Brown Bellugy modified for Italian standards (TCGB) to evaluate language comprehension; and Children's Hospital of Philadelphia Infant Test of Neuromuscular Disorders (CHOP-INTEND) to assess motor functioning. RESULTS: SMA 1AB and 1C children were similar in age, with the former characterized by lower CHOP-INTEND scores compared to the latter. All 22 children had collaborated to RCPM and their median IQ was 120 with no difference (p = 0.945) between AB and C. Global median score of the speech domain of the ALSSS was 5; however, it was 2 in AB children, being significantly lower than C (6.5, p < 0.001). TCGB test had been completed by 13 children, with morphosyntactic comprehension being in the normal range (50). Although ALSSS did not correlate with both IQ and TCGB, it had a strong (p < 0.001) correlation with CHOP-INTEND described by an exponential rise to maximum. CONCLUSIONS: Although speech and motor function were severely compromised, children with SMA1 showed general intelligence and language comprehension in the normal range. Speech impairment was strictly related to global motor impairment. En ligne : https://dx.doi.org/10.1186/s11689-021-09355-4 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=573 [article] Intellectual abilities, language comprehension, speech, and motor function in children with spinal muscular atrophy type 1 [texte imprimé] / Grazia ZAPPA, Auteur ; Antonella LOMAURO, Auteur ; Giovanni BARANELLO, Auteur ; Emilia CAVALLO, Auteur ; Priscilla CORTI, Auteur ; Chiara MASTELLA, Auteur ; Maria Antonella COSTANTINO, Auteur. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 13 (2021) Mots-clés : Child  Child, Preschool  Cognition  Comprehension  Female  Humans  Male  Muscular Atrophy, Spinal  Retrospective Studies  Speech  Children  Cognitive development  Language  SMA type 1  Spinal muscular atrophy Index. décimale : PER Périodiques Résumé : BACKGROUND: Spinal muscular atrophy (SMA) is a chronic, neuromuscular disease characterized by degeneration of spinal cord motor neurons, resulting in progressive muscular atrophy and weakness. SMA1 is the most severe form characterized by significant bulbar, respiratory, and motor dysfunction. SMA1 prevents children from speaking a clearly understandable and fluent language, with their communication being mainly characterized by eye movements, guttural sounds, and anarthria (type 1a); severe dysarthria (type 1b); and nasal voice and dyslalia (type 1c). The aim of this study was to analyze for the first time cognitive functions, language comprehension, and speech in natural history SMA1 children according to age and subtypes, to develop cognitive and language benchmarks that provide outcomes for the clinical medication trials that are changing SMA1 course/trajectory. METHODS: This is a retrospective study including 22 children with SMA1 (10 affected by subtype 1a-1b: AB and 12 by 1c: C) aged 3-11 years in clinical stable condition with a coded way to communicate "yes" and "no". Data from the following assessments have been retrieved from patient charts: one-dimensional Raven test (RCPM), to evaluate cognitive development (IQ); ALS Severity Score (ALSSS) to evaluate speech disturbances; Brown Bellugy modified for Italian standards (TCGB) to evaluate language comprehension; and Children's Hospital of Philadelphia Infant Test of Neuromuscular Disorders (CHOP-INTEND) to assess motor functioning. RESULTS: SMA 1AB and 1C children were similar in age, with the former characterized by lower CHOP-INTEND scores compared to the latter. All 22 children had collaborated to RCPM and their median IQ was 120 with no difference (p = 0.945) between AB and C. Global median score of the speech domain of the ALSSS was 5; however, it was 2 in AB children, being significantly lower than C (6.5, p < 0.001). TCGB test had been completed by 13 children, with morphosyntactic comprehension being in the normal range (50). Although ALSSS did not correlate with both IQ and TCGB, it had a strong (p < 0.001) correlation with CHOP-INTEND described by an exponential rise to maximum. CONCLUSIONS: Although speech and motor function were severely compromised, children with SMA1 showed general intelligence and language comprehension in the normal range. Speech impairment was strictly related to global motor impairment. En ligne : https://dx.doi.org/10.1186/s11689-021-09355-4 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=573

Reduced white matter integrity and disrupted brain network in children with type 2 and 3 spinal muscular atrophy / Huirong NIE in Journal of Neurodevelopmental Disorders, 17 (2025)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 17 (2025) Titre : Reduced white matter integrity and disrupted brain network in children with type 2 and 3 spinal muscular atrophy Type de document : texte imprimé Auteurs : Huirong NIE, Auteur ; Shasha LAN, Auteur ; Huan WANG, Auteur ; Pei XIANG, Auteur ; Mengzhen YAN, Auteur ; Yang FAN, Auteur ; Wanqing SHEN, Auteur ; Yijuan LI, Auteur ; Wen TANG, Auteur ; Zhiyun YANG, Auteur ; Yujian LIANG, Auteur ; Yingqian CHEN, Auteur Langues : Anglais (eng) Mots-clés : Humans  Male  Female  White Matter/diagnostic imaging/pathology  Child  Diffusion Tensor Imaging  Spinal Muscular Atrophies of Childhood/diagnostic imaging/pathology  Adolescent  Brain/diagnostic imaging/pathology  Nerve Net/diagnostic imaging/pathology  Prospective Studies  Spinal muscular atrophy  Structural magnetic resonance imaging  White matter  The First Affiliated Hospital of Sun Yat-Sen University (No. [2021]710). Informed  consent: Written informed consent was obtained from all subjects in this study.  Competing interests: The authors declare no competing interests. Index. décimale : PER Périodiques Résumé : BACKGROUND: Spinal muscular atrophy (SMA) is caused by reduced expression of survival motor neuron (SMN) protein. Previous studies indicated SMA causes not only lower motor neuron degeneration but also extensive brain involvement. This study aimed to investigate the changes of brain white matter and structural network using diffusion tensor imaging (DTI) in children with type 2 and 3 SMA. METHODS: Forty-two type 2 and 3 pediatric SMA patients and 42 age- and gender-matched healthy controls (HC) were prospectively enrolled in this study. The tract-based spatial statistics (TBSS) was used to assess white matter integrity and the structural network properties were calculated based on DTI white matter fiber tracking and the graph theory approach. A partial correlation was performed to explore the relationship between white matter parameters and clinical characteristics. RESULTS: In total, 42 patients (mean age, 10.86 ± 4.07 years; 23 men) were included. TBSS analysis revealed widespread white matter changes in SMA patients. The SMA patients showed changes in multiple small-world and network efficiency parameters. Compared to the HC group, SMA showed increased characteristic path length (L(p)), normalized clustering coefficient (γ), small-world characteristic (σ), and decreased global efficiency (E(glob)) (all p < 0.05). In the node properties, right supramarginal gyrus, right orbital part of superior frontal gyrus, right supplementary motor area, and left median cingulate and paracingulate gyri changed in SMA patients. A decreased axial diffusivity (AD) value was associated with lower Hammersmith Functional Motor Scale-Expanded scores (r = 0.45, p = 0.02), which means that the symptoms of SMA patients are more severe. CONCLUSIONS: This study found white matter and DTI-based brain network abnormalities in SMA patients, suggesting SMN protein deficiency may affect white matter development. En ligne : https://dx.doi.org/10.1186/s11689-025-09592-x Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=576 [article] Reduced white matter integrity and disrupted brain network in children with type 2 and 3 spinal muscular atrophy [texte imprimé] / Huirong NIE, Auteur ; Shasha LAN, Auteur ; Huan WANG, Auteur ; Pei XIANG, Auteur ; Mengzhen YAN, Auteur ; Yang FAN, Auteur ; Wanqing SHEN, Auteur ; Yijuan LI, Auteur ; Wen TANG, Auteur ; Zhiyun YANG, Auteur ; Yujian LIANG, Auteur ; Yingqian CHEN, Auteur. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 17 (2025) Mots-clés : Humans  Male  Female  White Matter/diagnostic imaging/pathology  Child  Diffusion Tensor Imaging  Spinal Muscular Atrophies of Childhood/diagnostic imaging/pathology  Adolescent  Brain/diagnostic imaging/pathology  Nerve Net/diagnostic imaging/pathology  Prospective Studies  Spinal muscular atrophy  Structural magnetic resonance imaging  White matter  The First Affiliated Hospital of Sun Yat-Sen University (No. [2021]710). Informed  consent: Written informed consent was obtained from all subjects in this study.  Competing interests: The authors declare no competing interests. Index. décimale : PER Périodiques Résumé : BACKGROUND: Spinal muscular atrophy (SMA) is caused by reduced expression of survival motor neuron (SMN) protein. Previous studies indicated SMA causes not only lower motor neuron degeneration but also extensive brain involvement. This study aimed to investigate the changes of brain white matter and structural network using diffusion tensor imaging (DTI) in children with type 2 and 3 SMA. METHODS: Forty-two type 2 and 3 pediatric SMA patients and 42 age- and gender-matched healthy controls (HC) were prospectively enrolled in this study. The tract-based spatial statistics (TBSS) was used to assess white matter integrity and the structural network properties were calculated based on DTI white matter fiber tracking and the graph theory approach. A partial correlation was performed to explore the relationship between white matter parameters and clinical characteristics. RESULTS: In total, 42 patients (mean age, 10.86 ± 4.07 years; 23 men) were included. TBSS analysis revealed widespread white matter changes in SMA patients. The SMA patients showed changes in multiple small-world and network efficiency parameters. Compared to the HC group, SMA showed increased characteristic path length (L(p)), normalized clustering coefficient (γ), small-world characteristic (σ), and decreased global efficiency (E(glob)) (all p < 0.05). In the node properties, right supramarginal gyrus, right orbital part of superior frontal gyrus, right supplementary motor area, and left median cingulate and paracingulate gyri changed in SMA patients. A decreased axial diffusivity (AD) value was associated with lower Hammersmith Functional Motor Scale-Expanded scores (r = 0.45, p = 0.02), which means that the symptoms of SMA patients are more severe. CONCLUSIONS: This study found white matter and DTI-based brain network abnormalities in SMA patients, suggesting SMN protein deficiency may affect white matter development. En ligne : https://dx.doi.org/10.1186/s11689-025-09592-x Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=576