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1.
Neurosci Biobehav Rev ; 162: 105720, 2024 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-38754714

RESUMEN

Limb apraxia is a motor disorder frequently observed following a stroke. Apraxic deficits are classically assessed with four tasks: tool use, pantomime of tool use, imitation, and gesture understanding. These tasks are supported by several cognitive processes represented in a left-lateralized brain network including inferior frontal gyrus, inferior parietal lobe (IPL), and lateral occipito-temporal cortex (LOTC). For the past twenty years, voxel-wise lesion symptom mapping (VLSM) studies have been used to unravel the neural correlates associated with apraxia, but none of them has proposed a comprehensive view of the topic. In the present work, we proposed to fill this gap by performing a systematic Anatomic Likelihood Estimation meta-analysis of VLSM studies which included tasks traditionally used to assess apraxia. We found that the IPL was crucial for all the tasks. Moreover, lesions within the LOTC were more associated with imitation deficits than tool use or pantomime, confirming its important role in higher visual processing. Our results questioned traditional neurocognitive models on apraxia and may have important clinical implications.


Asunto(s)
Apraxias , Humanos , Apraxias/fisiopatología , Apraxias/diagnóstico por imagen , Apraxias/etiología , Apraxias/patología , Mapeo Encefálico , Encéfalo/fisiopatología , Encéfalo/diagnóstico por imagen , Encéfalo/patología , Funciones de Verosimilitud , Lesiones Encefálicas/fisiopatología , Lesiones Encefálicas/patología , Lesiones Encefálicas/diagnóstico por imagen , Accidente Cerebrovascular/fisiopatología , Accidente Cerebrovascular/diagnóstico por imagen , Accidente Cerebrovascular/patología , Accidente Cerebrovascular/complicaciones
2.
J Commun Disord ; 109: 106428, 2024.
Artículo en Inglés | MEDLINE | ID: mdl-38744198

RESUMEN

PURPOSE: This study examines whether there are differences in the speech of speakers with dysarthria, speakers with apraxia and healthy speakers in spectral acoustic measures during production of the central-peninsular Spanish alveolar sibilant fricative /s/. METHOD: To this end, production of the sibilant was analyzed in 20 subjects with dysarthria, 8 with apraxia of speech and 28 healthy speakers. Participants produced 12 sV(C) words. The variables compared across groups were the fricative's spectral amplitude difference (AmpD) and spectral moments in the temporal midpoint of fricative execution. RESULTS: The results indicate that individuals with dysarthria can be distinguished from healthy speakers in terms of the spectral characteristics AmpD, standard deviation (SD), center of gravity (CoG) and skewness, the last two in context with unrounded vowel, while no differences in kurtosis were detected. Participants with AoS group differ significantly from healthy speaker group in AmpD, SD and CoG and Kurtosis, the first one followed unrounded vowel and the latter two followed by rounded vowels. In addition, speakers with apraxia of speech group returned significant differences with respect to speakers with dysarthria group in AmpD, CoG and skewness. CONCLUSIONS: The differences found between the groups in the measures studied as a function of the type of vowel context could provide insights into the distinctive manifestations of motor speech disorders, contributing to the differential diagnosis between apraxia and dysarthria in motor control processes.


Asunto(s)
Apraxias , Disartria , Acústica del Lenguaje , Humanos , Disartria/fisiopatología , Disartria/etiología , Apraxias/fisiopatología , Masculino , Femenino , Persona de Mediana Edad , Adulto , Anciano , Fonética , Medición de la Producción del Habla
3.
J Neurol ; 271(7): 4168-4179, 2024 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-38583104

RESUMEN

BACKGROUND AND OBJECTIVES: Nonfluent variant primary progressive aphasia (nfvPPA) and primary progressive apraxia of speech (PPAOS) can be precursors to corticobasal syndrome (CBS). Details on their progression remain unclear. We aimed to examine the clinical and neuroimaging evolution of nfvPPA and PPAOS into CBS. METHODS: We conducted a retrospective longitudinal study in 140 nfvPPA or PPAOS patients and applied the consensus criteria for possible and probable CBS for every visit, evaluating limb rigidity, akinesia, limb dystonia, myoclonus, ideomotor apraxia, alien limb phenomenon, and nonverbal oral apraxia (NVOA). Given the association of NVOA with AOS, we also modified the CBS criteria by excluding NVOA and assigned every patient to either a progressors or non-progressors group. We evaluated the frequency of every CBS feature by year from disease onset, and assessed gray and white matter volume loss using SPM12. RESULTS: Asymmetric akinesia, NVOA, and limb apraxia were the most common CBS features that developed; while limb dystonia, myoclonus, and alien limb were rare. Eighty-two patients progressed to possible CBS; only four to probable CBS. nfvPPA and PPAOS had a similar proportion of progressors, although nfvPPA progressed to CBS earlier (p-value = 0.046), driven by an early appearance of limb apraxia (p-value = 0.0041). The non-progressors and progressors both showed premotor/motor cortex involvement at baseline, with spread into prefrontal cortex over time. DISCUSSION: An important proportion of patients with nfvPPA and PPAOS progress to possible CBS, while they rarely develop features of probable CBS even after long follow-up.


Asunto(s)
Apraxias , Progresión de la Enfermedad , Afasia Progresiva Primaria no Fluente , Humanos , Masculino , Femenino , Estudios Longitudinales , Anciano , Persona de Mediana Edad , Apraxias/etiología , Apraxias/fisiopatología , Apraxias/diagnóstico por imagen , Estudios Retrospectivos , Afasia Progresiva Primaria no Fluente/fisiopatología , Afasia Progresiva Primaria no Fluente/diagnóstico por imagen , Imagen por Resonancia Magnética
4.
J Neurosurg ; 136(1): 16-29, 2022 Jan 01.
Artículo en Inglés | MEDLINE | ID: mdl-34144525

RESUMEN

OBJECTIVE: Resection of glioma in the nondominant hemisphere involving the motor areas and pathways requires the use of brain-mapping techniques to spare essential sites subserving motor control. No clear indications are available for performing motor mapping under either awake or asleep conditions or for the best mapping paradigm (e.g., resting or active, high-frequency [HF] or low-frequency [LF] stimulation) that provides the best oncological and functional outcomes when tailored to the clinical context. This work aimed to identify clinical and imaging factors that influence surgical strategy (asleep motor mapping vs awake motor mapping) and that are associated with the best functional and oncological outcomes and to design a "motor mapping score" for guiding tumor resection in this area. METHODS: The authors evaluated a retrospective series of patients with nondominant-hemisphere glioma-located or infiltrating within 2 cm anteriorly or posteriorly to the central sulcus and affecting the primary motor cortex, its fibers, and/or the praxis network-who underwent operations with asleep (HF monopolar probe) or awake (LF and HF probes) motor mapping. Clinical and imaging variables were used to design a motor mapping score. A prospective series of patients was used to validate this motor mapping score. RESULTS: One hundred thirty-five patients were retrospectively analyzed: 69 underwent operations with asleep (HF stimulation) motor mapping, and 66 underwent awake (LF and HF stimulation and praxis task evaluation) motor mapping. Previous motor (strength) deficit, previous treatment (surgery/radiotherapy), tumor volume > 30 cm3, and tumor involvement of the praxis network (on MRI) were identified and used to design the mapping score. Motor deficit, previous treatment, and location within or close to the central sulcus favor use of asleep motor mapping; large tumor volume and involvement of the praxis network favor use of awake motor mapping. The motor mapping score was validated in a prospective series of 52 patients-35 underwent operations with awake motor mapping and 17 with asleep motor mapping on the basis of the score indications-who had a low rate of postoperative motor-praxis deficit (3%) and a high extent of resection (median 97%; complete resection in > 70% of patients). CONCLUSIONS: Extensive resection of tumor involving the eloquent areas for motor control is feasible, and when an appropriate mapping strategy is applied, the incidence of postoperative motor-praxis deficit is low. Asleep (HF stimulation) motor mapping is preferable for lesions close to or involving the central sulcus and/or in patients with preoperative strength deficit and/or history of previous treatment. When a patient has no motor deficit or previous treatment and has a lesion (> 30 cm3) involving the praxis network, awake mapping is preferable.


Asunto(s)
Mapeo Encefálico/métodos , Neoplasias Encefálicas/diagnóstico por imagen , Neoplasias Encefálicas/cirugía , Glioma/diagnóstico por imagen , Glioma/cirugía , Procedimientos Neuroquirúrgicos/métodos , Sueño , Vigilia , Adolescente , Adulto , Anciano , Apraxias/etiología , Apraxias/fisiopatología , Femenino , Humanos , Imagen por Resonancia Magnética , Masculino , Persona de Mediana Edad , Corteza Motora/diagnóstico por imagen , Corteza Motora/cirugía , Planificación de Atención al Paciente , Complicaciones Posoperatorias/fisiopatología , Reproducibilidad de los Resultados , Estudios Retrospectivos , Resultado del Tratamiento , Adulto Joven
5.
J Alzheimers Dis ; 82(4): 1651-1665, 2021.
Artículo en Inglés | MEDLINE | ID: mdl-34219727

RESUMEN

BACKGROUND: Alzheimer's disease (AD) affects several cognitive functions and causes altered motor function. Fine motor deficits during object manipulation are evident in other neurological conditions, but have not been assessed in dementia patients yet. OBJECTIVE: Investigate reactive and anticipatory grip force control in response to unexpected and expected load force perturbation in AD. METHODS: Reactive and anticipatory grip force was investigated using a grip-device with force sensors. In this pilot study, fifteen AD patients and fourteen healthy controls performed a catching task. They held the device with one hand while a sandbag was dropped into an attached receptacle either by the experimenter or by the participant. RESULTS: In contrast to studies of other neurological conditions, the majority of AD patients exerted lower static grip force levels than controls. Interestingly, patients who were slow in the Luria's three-step test produced normal grip forces. The timing and magnitude of reactive grip force control were largely preserved in patients. In contrast, timing and extent of anticipatory grip forces were impaired in patients, although anticipatory control was generally preserved. These deficits were correlated with decreasing Mini-Mental State Examination scores. Apraxia scores, assessed by pantomime of tool-use, did not correlate with performance in the catching task. CONCLUSION: We interpreted the decreased grip force in AD in the context of loss of strength and lethargy, typical for patients with AD. The lower static grip force during object manipulation may emerge as a potential biomarker for early stages of AD, but more studies with larger sample sizes are necessary.


Asunto(s)
Enfermedad de Alzheimer/fisiopatología , Fuerza de la Mano/fisiología , Desempeño Psicomotor/fisiología , Anciano , Anciano de 80 o más Años , Apraxias/fisiopatología , Femenino , Humanos , Masculino , Pruebas de Estado Mental y Demencia/estadística & datos numéricos , Persona de Mediana Edad , Proyectos Piloto
6.
J Child Neurol ; 36(11): 958-967, 2021 10.
Artículo en Inglés | MEDLINE | ID: mdl-34315296

RESUMEN

We report a case series of children with childhood apraxia of speech, by describing behavioral and white matter microstructural changes following 2 different treatment approaches.Five children with childhood apraxia of speech were assigned to a motor speech treatment (PROMPT) and 5 to a language, nonspeech oral motor treatment. Speech assessment and brain MRI were performed pre- and post-treatment. The ventral (tongue/larynx) and dorsal (lips) corticobulbar tracts were reconstructed in each subject. Mean fractional anisotropy and mean diffusivity were extracted. The hand corticospinal tract was assessed as a control pathway. In both groups speech improvements paralleled changes in the left ventral corticobulbar tract fractional anisotropy. The PROMPT treated group also showed fractional anisotropy increase and mean diffusivity decrease in the left dorsal corticobulbar tract. No changes were detected in the hand tract. Our results may provide preliminary support to the possible neurobiologic effect of a multimodal speech motor treatment in childhood apraxia of speech.


Asunto(s)
Apraxias/fisiopatología , Apraxias/terapia , Mapeo Encefálico/métodos , Imagen por Resonancia Magnética/métodos , Logopedia/métodos , Niño , Preescolar , Femenino , Humanos , Masculino , Resultado del Tratamiento
7.
Parkinsonism Relat Disord ; 88: 96-101, 2021 07.
Artículo en Inglés | MEDLINE | ID: mdl-34166866

RESUMEN

INTRODUCTION: Apraxia is a core clinical feature of corticobasal syndrome (CBS). Among the subtypes of apraxia, ideomotor and imitation apraxia are frequently found in CBS. However, little is known about the brain networks that are characteristic of each apraxia subtype or their clinical implication. In this study, we used 18F-fluorodeoxyglucose positron emission tomography (FDG-PET) to explore the specific patterns of glucose hypometabolism that are characteristic of apraxia subtypes by focusing on ideomotor and imitation apraxia. METHODS: We compared the areas of glucose hypometabolism in the brains of 52 patients with CBS and 13 healthy controls, both as a whole and according to apraxia subtypes. In addition, we investigated the relationship between the apraxia subtypes and the clinical phenotype of CBS. RESULTS: In patients with CBS, common hypometabolism was observed in the frontal gyrus, precentral gyrus and caudate regardless of apraxia subtypes. In particular, ideomotor apraxia was associated with hypometabolism in the angular gyrus, while imitation apraxia was associated with hypometabolism in the posterior part including the postcentral gyrus, precuneus, and posterior cingulate gyrus. Patients who showed both ideomotor and imitation apraxia were more likely to show the typical features of CBS and progressive supranuclear palsy compared with patients showing only one type of apraxia. CONCLUSION: Group comparison analysis using FDG-PET revealed distinct pathways of ideomotor and imitation apraxia in CBS. These findings add to our understanding of the brain networks underlying apraxia in association with the clinical features of CBS.


Asunto(s)
Apraxias/fisiopatología , Núcleo Caudado/fisiopatología , Corteza Cerebral/fisiopatología , Degeneración Corticobasal/fisiopatología , Conducta Imitativa , Red Nerviosa/fisiopatología , Anciano , Apraxia Ideomotora/diagnóstico por imagen , Apraxia Ideomotora/etiología , Apraxia Ideomotora/metabolismo , Apraxia Ideomotora/fisiopatología , Apraxias/diagnóstico por imagen , Apraxias/etiología , Apraxias/metabolismo , Núcleo Caudado/diagnóstico por imagen , Núcleo Caudado/metabolismo , Corteza Cerebral/diagnóstico por imagen , Corteza Cerebral/metabolismo , Degeneración Corticobasal/complicaciones , Degeneración Corticobasal/diagnóstico por imagen , Degeneración Corticobasal/metabolismo , Femenino , Fluorodesoxiglucosa F18 , Humanos , Masculino , Persona de Mediana Edad , Red Nerviosa/diagnóstico por imagen , Red Nerviosa/metabolismo , Tomografía de Emisión de Positrones
8.
World Neurosurg ; 153: e105-e111, 2021 09.
Artículo en Inglés | MEDLINE | ID: mdl-34129988

RESUMEN

OBJECTIVE: To better characterize children with glioblastoma, assess outcomes, and identify prognostic factors associated with overall survival and progression-free survival in a relatively large cohort from a single institution. METHODS: For this retrospective review, 38 pediatric patients with a diagnosis of glioblastoma who were treated at The First Affiliated Hospital of Zhengzhou University between January 2015 and January 2020 were selected. Clinical and pathological characteristics, imaging, treatment, and survival variables were compared. RESULTS: There were 24 boys and 14 girls with a median age of 11.5 years (range, 3-18 years). All patients underwent surgery, with gross total resection in 16 and subtotal resection in 22. Of patients, 18 received radiation combined with chemotherapy, 6 received radiation or chemotherapy alone, and 14 did not receive any adjuvant therapy. Contrast-enhanced magnetic resonance imaging of 21 patients showed rim enhancement, while heterogeneous enhancement was shown on imaging of the other 17 patients. Tumors were observed in hemispheric locations in 19 cases and in central locations in the others. Median overall survival was 10.5 months with a median progression-free survival of 6 months. Extent of resection, adjuvant therapy, and original site of tumor were identified as independent predictors for progression-free survival and overall survival on multivariate analysis. There were significant differences in prognosis among different enhancement characteristics; patients with rim-enhancing tumors had a better prognosis. CONCLUSIONS: Pediatric glioblastoma carries a dismal prognosis. Maximum safe resection followed by adjuvant radiation with chemotherapy is considered standard treatment. Better outcomes are associated with hemispheric tumor locations and rim enhancement on magnetic resonance imaging.


Asunto(s)
Neoplasias Encefálicas/terapia , Quimioradioterapia Adyuvante , Glioblastoma/terapia , Procedimientos Neuroquirúrgicos , Adolescente , Antineoplásicos Alquilantes/uso terapéutico , Apraxias/fisiopatología , Neoplasias Encefálicas/diagnóstico por imagen , Neoplasias Encefálicas/fisiopatología , Quimioterapia Adyuvante , Niño , Preescolar , Femenino , Glioblastoma/diagnóstico por imagen , Glioblastoma/fisiopatología , Humanos , Hipertensión Intracraneal/fisiopatología , Isocitrato Deshidrogenasa/genética , Imagen por Resonancia Magnética , Masculino , Pronóstico , Supervivencia sin Progresión , Radioterapia Adyuvante , Estudios Retrospectivos , Convulsiones/fisiopatología , Tasa de Supervivencia , Temozolomida/uso terapéutico , Resultado del Tratamiento
9.
Philos Trans R Soc Lond B Biol Sci ; 376(1824): 20200191, 2021 05 10.
Artículo en Inglés | MEDLINE | ID: mdl-33745305

RESUMEN

The aim of this paper is to develop further the idea that symptoms that emerge in speech and language processing following brain damage can make a contribution to discussions of the early evolution of language. These diverse impairments are called aphasia, and this paper proposes that the recovery of a non-fluent aphasia syndrome following stroke could provide insights into the course of the pre-history of human language evolution. The observable symptoms emerge during recovery, crucially enabled by (dis)inhibition in parallel with a range of impairments in action processing (apraxias), including apraxia of speech. They are underpinned by changes in cortical and subcortical status following brain damage. It is proposed that the observed recovery mimics ontogenic and phylogenic processes in human speech and language. The arguments put forward provide insights tending to support the motor-gestural model of speech and language evolution. This article is part of the theme issue 'Reconstructing prehistoric languages'.


Asunto(s)
Afasia/fisiopatología , Apraxias/fisiopatología , Encefalopatías/fisiopatología , Evolución Cultural , Lenguaje , Habla , Lesiones Encefálicas/fisiopatología , Humanos
10.
Cereb Cortex ; 31(5): 2639-2652, 2021 03 31.
Artículo en Inglés | MEDLINE | ID: mdl-33386399

RESUMEN

Children with autism spectrum disorder (ASD) have difficulties perceiving and producing skilled gestures, or praxis. The inferior parietal lobule (IPL) is crucial to praxis acquisition and expression, yet how IPL connectivity contributes to autism-associated impairments in praxis as well as social-communicative skill remains unclear. Using resting-state functional magnetic resonance imaging, we applied independent component analysis to test how IPL connectivity relates to praxis and social-communicative skills in children with and without ASD. Across all children (with/without ASD), praxis positively correlated with connectivity of left posterior-IPL with the left dorsal premotor cortex and with the bilateral posterior/medial parietal cortex. Praxis also correlated with connectivity of right central-IPL connectivity with the left intraparietal sulcus and medial parietal lobe. Further, in children with ASD, poorer praxis and social-communicative skills both correlated with weaker right central-IPL connectivity with the left cerebellum, posterior cingulate, and right dorsal premotor cortex. Our findings suggest that IPL connectivity is linked to praxis development, that contributions arise bilaterally, and that right IPL connectivity is associated with impaired praxis and social-communicative skills in autism. The findings underscore the potential impact of IPL connectivity and impaired skill acquisition on the development of a range of social-communicative and motor functions during childhood, including autism-associated impairments.


Asunto(s)
Apraxias/diagnóstico por imagen , Trastorno del Espectro Autista/diagnóstico por imagen , Cerebelo/diagnóstico por imagen , Giro del Cíngulo/diagnóstico por imagen , Corteza Motora/diagnóstico por imagen , Lóbulo Parietal/diagnóstico por imagen , Habilidades Sociales , Apraxias/fisiopatología , Trastorno del Espectro Autista/fisiopatología , Encéfalo/diagnóstico por imagen , Encéfalo/fisiopatología , Estudios de Casos y Controles , Cerebelo/fisiopatología , Niño , Femenino , Neuroimagen Funcional , Gestos , Giro del Cíngulo/fisiopatología , Humanos , Imagen por Resonancia Magnética , Masculino , Corteza Motora/fisiopatología , Vías Nerviosas/diagnóstico por imagen , Vías Nerviosas/fisiopatología , Lóbulo Parietal/fisiopatología
11.
Arch Phys Med Rehabil ; 102(5): 940-950, 2021 05.
Artículo en Inglés | MEDLINE | ID: mdl-33485836

RESUMEN

OBJECTIVE: To analyze the effectiveness of a home-based restorative and compensatory upper limb apraxia (ULA) rehabilitation program. DESIGN: Randomized controlled trial. SETTING: Neurology Unit of San Cecilio Hospital and 2 private and specialized health care centers. PARTICIPANTS: Community dwelling participants (N=38) between the ages of 25 and 95 years old (sex ratio, 1:1) with unilateral mild-to-moderate poststroke lesions (time of evolution since stroke, 12.03±8.98mo) and secondary ULA. INTERVENTIONS: Participants were randomly assigned to an 8-week combined ULA functional rehabilitation group (n=19) 3 days per week for 30 minutes or to a traditional health care education protocol group (n=19) once a month for 8 weeks. Both interventions were conducted at home. MAIN OUTCOME MEASURES: Sociodemographic and clinical data, Barthel Index (primary outcome), Lawton and Brody Scale, observation and scoring activities of daily living, the De Renzi tests for ideational and ideomotor apraxia and imitating gestures test, recognition of gestures, test for upper limb apraxia , and stroke-specific quality of life scale were assessed at 3 time points: baseline, posttreatment (8wk), and follow-up (8wk). RESULTS: There were statistically significant differences among the groups regarding ideomotor apraxia, imitating gestures, global recognition of gestures, intransitive gestures, and comprehension of gesture production (P<.05) in favor of the experimental group. However, no statistically significant differences were found between the groups regarding functionality or quality of life (P>.05). Regarding the within-group effect, statistically significant differences were found in all neuropsychological outcomes at posttreatment and follow-up (P<.05). CONCLUSION: A functional rehabilitation program was found to be superior to a traditional health care education program and resulted in improvements in neuropsychological functioning in ULA poststroke. Conventional education showed an insufficient effect on apraxia recovery. Further studies with larger sample sizes are needed to determine the effect of rehabilitation strategies on functionality and quality of life of poststroke ULA patients.


Asunto(s)
Apraxias/fisiopatología , Apraxias/rehabilitación , Rehabilitación de Accidente Cerebrovascular/métodos , Extremidad Superior/fisiopatología , Actividades Cotidianas , Anciano , Anciano de 80 o más Años , Femenino , Humanos , Masculino , Persona de Mediana Edad , Calidad de Vida
12.
Acta Neurochir (Wien) ; 163(5): 1247-1255, 2021 05.
Artículo en Inglés | MEDLINE | ID: mdl-32725365

RESUMEN

Hand function and apraxia are equally relevant to neurosurgeons: as a symptom, as well as through the functional anatomy of "praxis" which underlies the dexterity needed for neurosurgical practice. The supplementary motor area is crucial for its understanding. Historically, Hugo Liepmann dominated the apraxia debate at the beginning of the twentieth century, a debate that has remained influential until today. Kurt Goldstein, a contemporary of Liepmann, is regularly mentioned as the first to have described the alien hand syndrome in 1909. Wilder Penfield was a key figure in exploring the role of the fronto-mesial cortex in human motor control and coined the term "supplementary motor area". It was Goldstein who not only contributed substantially to the apraxia debate more than 100 years ago; he also established the link between the dysfunction of the fronto-mesial cortex and abnormal higher motor control in humans.


Asunto(s)
Apraxias/patología , Corteza Motora/patología , Apraxias/fisiopatología , Cuerpo Calloso/patología , Cuerpo Calloso/fisiopatología , Femenino , Historia del Siglo XX , Humanos , Masculino , Corteza Motora/fisiopatología
13.
Am J Med Genet A ; 185(12): 3567-3575, 2021 12.
Artículo en Inglés | MEDLINE | ID: mdl-32725750

RESUMEN

49,XXXXY is the rarest X and Y chromosomal variation and is frequently characterized by expressive and receptive language dysfunction, low muscle tonus, and intellectual deficits. Due to the low incidence of this disorder, comprehensive studies analyzing the specific aspects of the speech and language phenotype in these boys have been uncommon. This is the first in-depth investigation of the speech and language profiles in a large cohort of boys with 49,XXXXY. Based on the clinical judgment of speech and language pathologists, there was an increased incidence (91.8%) of Childhood Apraxia of Speech (CAS), which has not been previously described in this disorder. In preschool boys, some significant differences were demonstrated between boys who received early hormonal treatment (n = 16) and untreated boys (n = 4) on the language scales (p = .047) on the Bayley Scales of Infants and Toddlers, as well as significant differences between treated (n = 13) and untreated boys (n = 8) on the Expressive One Word Picture Vocabulary Test (p = .008). No significant differences between treatment groups were found in school age children, however, treated groups demonstrated less discrepancies between expressive and receptive language. More research and larger samples are needed to determine the extent of the impact of testosterone treatment on boys with 49,XXXXY. This study identifies CAS as a potential explanation for the significant expressive language dysfunction and subsequent behavioral dysfunction. These findings may assist in facilitating more targeted treatment and improved outcomes for boys with 49,XXXXY.


Asunto(s)
Apraxias/genética , Discapacidad Intelectual/diagnóstico , Trastornos del Desarrollo del Lenguaje/diagnóstico , Trastornos de los Cromosomas Sexuales/diagnóstico , Aneuploidia , Apraxias/fisiopatología , Preescolar , Cromosomas Humanos X/genética , Humanos , Lactante , Discapacidad Intelectual/genética , Discapacidad Intelectual/fisiopatología , Desarrollo del Lenguaje , Trastornos del Desarrollo del Lenguaje/genética , Trastornos del Desarrollo del Lenguaje/fisiopatología , Masculino , Aberraciones Cromosómicas Sexuales , Trastornos de los Cromosomas Sexuales/genética , Trastornos de los Cromosomas Sexuales/fisiopatología , Habla/fisiología
14.
Cogn Neuropsychol ; 38(1): 72-87, 2021 02.
Artículo en Inglés | MEDLINE | ID: mdl-33249997

RESUMEN

This study investigated the underlying nature of apraxia of speech (AOS) by testing two competing hypotheses. The Reduced Buffer Capacity Hypothesis argues that people with AOS can plan speech only one syllable at a time Rogers and Storkel [1999. Planning speech one syllable at a time: The reduced buffer capacity hypothesis in apraxia of speech. Aphasiology, 13(9-11), 793-805. https://doi.org/10.1080/026870399401885]. The Program Retrieval Deficit Hypothesis states that selecting a motor programme is difficult in face of competition from other simultaneously activated programmes Mailend and Maas [2013. Speech motor programming in apraxia of speech: Evidence from a delayed picture-word interference task. American Journal of Speech-Language Pathology, 22(2), S380-S396. https://doi.org/10.1044/1058-0360(2013/12-0101)]. Speakers with AOS and aphasia, aphasia without AOS, and unimpaired controls were asked to prepare and hold a two-word utterance until a go-signal prompted a spoken response. Phonetic similarity between target words was manipulated. Speakers with AOS had longer reaction times in conditions with two similar words compared to two identical words. The Control and the Aphasia group did not show this effect. These results suggest that speakers with AOS need additional processing time to retrieve target words when multiple motor programmes are simultaneously activated.


Asunto(s)
Afasia/fisiopatología , Apraxias/fisiopatología , Fonética , Trastornos del Habla/fisiopatología , Habla , Adulto , Anciano , Femenino , Humanos , Masculino , Persona de Mediana Edad , Tiempo de Reacción , Medición de la Producción del Habla/métodos
15.
Artículo en Inglés | MEDLINE | ID: mdl-33101765

RESUMEN

Background: Ataxia with oculomotor apraxia (AOA1) is characterized by early-onset progressive cerebellar ataxia with peripheral neuropathy, oculomotor apraxia and hypoalbuminemia and hypercholesterolemia. Case Report: A 23-year-old previously healthy woman presented with slowly-progressive gait impairment since the age of six years. Neurological examination revealed profound areflexia, chorea, generalized dystonia and oculomotor apraxia. Brain MRI revealed mild cerebellar atrophy and needle EMG showed axonal sensorimotor neuropathy. Whole exome sequencing revealed a mutation in the aprataxin gene. Discussion: AOA1 can present with choreoathetosis mixed with dystonic features, resembling ataxia-telangiectasia. This case is instructive since mixed and complex movement disorders is not very common in AOA1. Highlights: Ataxia with oculomotor apraxia type 1 (AOA1) is characterized by early-onset ataxia and oculomotor apraxia caused by variants in the APTX gene.Ataxia is usually not the sole movement abnormality in AOA1.Hyperkinetic movement disorders, especially chorea and dystonia, may occur.Mixed and complex movement disorders is not very common in AOA1.Patients with early-onset ataxia associated with mixed movement disorders should also be investigated for AOA1.


Asunto(s)
Apraxias/fisiopatología , Ataxia Cerebelosa/congénito , Cerebelo/diagnóstico por imagen , Corea/fisiopatología , Distonía/fisiopatología , Hipoalbuminemia/fisiopatología , Reflejo Anormal/fisiología , Apraxias/diagnóstico por imagen , Apraxias/genética , Atrofia , Ataxia Cerebelosa/diagnóstico por imagen , Ataxia Cerebelosa/genética , Ataxia Cerebelosa/fisiopatología , Enfermedades Cerebelosas/fisiopatología , Cerebelo/patología , Proteínas de Unión al ADN/genética , Electromiografía , Femenino , Humanos , Hipoalbuminemia/diagnóstico por imagen , Hipoalbuminemia/genética , Proteínas Nucleares/genética , Adulto Joven
16.
Neurocase ; 26(6): 328-339, 2020 12.
Artículo en Inglés | MEDLINE | ID: mdl-33103577

RESUMEN

We report a patient with asymmetric Bálint's syndrome (predominantly right-sided oculomotor apraxia and simultanagnosia and optic ataxia for the right hemispace), and multimodal agnosia (apperceptive visual agnosia and bilateral associative tactile agnosia) with accompanying right hemianopia, bilateral agraphesthesia, hemispatial neglect, global alexia with unavailable kinesthetic reading, and lexical agraphia for kanji (Japanese morphograms), after hemorrhage in the left parieto-occipito-temporal area. The coexistence of tactile agnosia, bilateral agraphesthesia, and ineffective kinesthetic reading suggests that tactile-kinesthetic information can be interrupted because of damage to the fiber connection from the parietal lobe to the occipito-temporal area, leading to these tactually related cognitive impairments.


Asunto(s)
Apraxias/congénito , Ataxia , Hemorragia Cerebral , Síndrome de Cogan , Trastornos del Lenguaje , Trastornos de la Percepción , Anciano , Agnosia/etiología , Agnosia/patología , Agnosia/fisiopatología , Agrafia/etiología , Agrafia/patología , Agrafia/fisiopatología , Apraxias/etiología , Apraxias/patología , Apraxias/fisiopatología , Ataxia/etiología , Ataxia/patología , Ataxia/fisiopatología , Hemorragia Cerebral/complicaciones , Hemorragia Cerebral/patología , Hemorragia Cerebral/fisiopatología , Síndrome de Cogan/etiología , Síndrome de Cogan/patología , Síndrome de Cogan/fisiopatología , Dislexia/etiología , Dislexia/patología , Dislexia/fisiopatología , Humanos , Trastornos del Lenguaje/etiología , Trastornos del Lenguaje/patología , Trastornos del Lenguaje/fisiopatología , Imagen por Resonancia Magnética , Masculino , Lóbulo Occipital/patología , Lóbulo Parietal/patología , Trastornos de la Percepción/etiología , Trastornos de la Percepción/patología , Trastornos de la Percepción/fisiopatología , Síndrome , Lóbulo Temporal/patología , Percepción del Tacto/fisiología , Percepción Visual/fisiología
17.
Parkinsonism Relat Disord ; 81: 34-40, 2020 12.
Artículo en Inglés | MEDLINE | ID: mdl-33045651

RESUMEN

INTRODUCTION: Primary progressive apraxia of speech (PPAOS) is a neurodegenerative syndrome in which patients present with an isolated motor speech disorder. Some PPAOS patients develop parkinsonism and other features of progressive supranuclear palsy (PSP) and/or corticobasal syndrome (CBS) over time. We aimed to assess the evolution of parkinsonian characteristics in PPAOS patients who had been followed yearly for at least six years. METHODS: From a large cohort of 46 PPAOS patients, eight were followed yearly for > 6-years in multiple NIH-funded grants. Parkinsonian and other features, including bradykinesia, tremor, rigidity, postural instability, apraxia, ocular motor function and cognition were assessed at each visit, and research criteria applied for PSP and CBS diagnosis. Neurological, speech-language test scores, and [18F]fluorodeoxyglucose PET (FDG-PET) and MRI midbrain volumes were assessed. RESULTS: A Parkinson's plus syndrome developed in all eight patients (100%). Bradykinesia was the earliest feature, followed by rigidity and postural instability. Tremor was not a significant feature. Parkinsonism, limb apraxia and ocular motor impairment tended to develop four-to-five years after onset with some patients having slight asymmetric parkinsonism. Six patients (75%) met research criteria for probable PSP, although only one for PSP-Richardson's syndrome; three patients met criteria for possible CBS. Slightly asymmetric, left-sided, hypometabolism was observed on FDG-PET, not matching asymmetry of Parkinsonism. Midbrain hypometabolism was absent-minimal. Three patients had progressive midbrain volumes in the PSP-Richardson's syndrome range. CONCLUSIONS: A Parkinson's plus syndrome may inevitably develop in PPAOS supporting PPAOS as an early presentation of a Parkinson's plus disorder.


Asunto(s)
Apraxias/fisiopatología , Encéfalo/diagnóstico por imagen , Trastornos Parkinsonianos/fisiopatología , Trastornos del Habla/fisiopatología , Parálisis Supranuclear Progresiva/fisiopatología , Anciano , Apraxias/diagnóstico por imagen , Estudios de Cohortes , Femenino , Fluorodesoxiglucosa F18 , Humanos , Hipocinesia/fisiopatología , Pruebas del Lenguaje , Estudios Longitudinales , Imagen por Resonancia Magnética , Masculino , Persona de Mediana Edad , Rigidez Muscular/fisiopatología , Trastornos Parkinsonianos/diagnóstico por imagen , Tomografía de Emisión de Positrones , Equilibrio Postural/fisiología , Radiofármacos , Trastornos del Habla/diagnóstico por imagen , Parálisis Supranuclear Progresiva/diagnóstico por imagen , Temblor/fisiopatología
18.
Artículo en Inglés | MEDLINE | ID: mdl-32775028

RESUMEN

Background: Creutzfeldt-Jakob disease (CJD) is a rare prion disease characterized by rapidly progressive dementia. Case Report: A 76-year-old woman exhibited pronounced signs and symptoms of dressing apraxia for about seven weeks before the disease progressed and probable CJD was diagnosed supported by imaging and CSF findings. Discussion: Dressing apraxia as the initial manifestation of CJD has been sparsely reported. This remarkably focal syndrome should be considered with view on movement and neuropsychological disorders in early CJD.


Asunto(s)
Apraxias/fisiopatología , Síndrome de Creutzfeldt-Jakob/fisiopatología , Anciano , Encéfalo/diagnóstico por imagen , Síndrome de Creutzfeldt-Jakob/diagnóstico , Imagen de Difusión por Resonancia Magnética , Femenino , Humanos , Imagen por Resonancia Magnética
19.
Neurorehabil Neural Repair ; 34(6): 512-522, 2020 06.
Artículo en Inglés | MEDLINE | ID: mdl-32476616

RESUMEN

Background. Nonuse (NU) after stroke is characterized by failure to use the contralesional arm despite adequate capacity. It has been suggested that NU is a consequence of the greater effort and/or attention required to use the affected limb, but such accounts have not been directly tested, and we have poor understanding of the predictors of NU. Objective. We aimed to provide preliminary evidence regarding demographic, neuropsychological (ie, apraxia, attention/arousal, neglect), and psychological (ie, self-efficacy) factors that may influence NU in chronic stroke. Methods. Twenty chronic stroke survivors with mild to moderate sensory-motor impairment characterized by the Upper-Extremity Fugl-Meyer (UEFM) were assessed for NU with a modified version of the Actual Amount of Use Test (AAUT), which measures the disparity between amount of use in spontaneous versus forced conditions. Participants were also assessed with measures of limb apraxia, spatial neglect, attention/arousal, and self-efficacy. Using stepwise multiple regression, we determined which variables predicted AAUT NU scores. Results. Scores on the UEFM as well as attention/arousal predicted the degree of NU (P < .05). Attention/arousal predicted NU above and beyond UEFM (P < .05). Conclusions. The results are consistent with the importance of attention and engagement necessary to fully incorporate the paretic limb into daily activities. Larger-scale studies that include additional behavioral (eg, sensation, proprioception, spasticity, pain, mental health, motivation) and neuroanatomical measures (eg, lesion volume and white matter connectivity) will be important for future investigations.


Asunto(s)
Actividades Cotidianas , Apraxias/fisiopatología , Brazo/fisiopatología , Paresia/fisiopatología , Trastornos de la Percepción/fisiopatología , Accidente Cerebrovascular/fisiopatología , Anciano , Apraxias/etiología , Atención/fisiología , Enfermedad Crónica , Femenino , Humanos , Masculino , Persona de Mediana Edad , Paresia/etiología , Trastornos de la Percepción/etiología , Autoeficacia , Accidente Cerebrovascular/complicaciones
20.
Neurocase ; 26(3): 125-130, 2020 06.
Artículo en Inglés | MEDLINE | ID: mdl-32323627

RESUMEN

Proactive interference is when a previously performed task impairs performance on a current task. It is often associated with memory tasks and has not been reported to interfere with writing or drawing. We evaluated a left-handed man diagnosed with corticobasal syndrome who had a two-year history of progressive agraphia. On the sentence writing and clock drawing tasks, he initially wrote letters and numbers correctly but revealed an increase of movement errors as the tasks progressed. We propose the term "proactive interference apraxic agraphia" for this novel disorder. Prefrontal dysfunction may cause an impairment in disengaging from previously activated motor programs.


Asunto(s)
Agrafia/fisiopatología , Enfermedades de los Ganglios Basales/fisiopatología , Corteza Cerebral/fisiopatología , Enfermedades Neurodegenerativas/fisiopatología , Agrafia/diagnóstico , Agrafia/etiología , Apraxias/diagnóstico , Apraxias/etiología , Apraxias/fisiopatología , Enfermedades de los Ganglios Basales/complicaciones , Enfermedades de los Ganglios Basales/diagnóstico por imagen , Corteza Cerebral/diagnóstico por imagen , Humanos , Masculino , Persona de Mediana Edad , Enfermedades Neurodegenerativas/complicaciones , Enfermedades Neurodegenerativas/diagnóstico , Corteza Prefrontal/fisiopatología
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