Gestural apraxia.

Science.gov (United States)

Etcharry-Bouyx, F; Le Gall, D; Jarry, C; Osiurak, F

Gestural apraxia was first described in 1905 by Hugo Karl Liepmann. While his description is still used, the actual terms are often confusing. The cognitive approach using models proposes thinking of the condition in terms of production and conceptual knowledge. The underlying cognitive processes are still being debated, as are also the optimal ways to assess them. Several neuroimaging studies have revealed the involvement of a left-lateralized frontoparietal network, with preferential activation of the superior parietal lobe, intraparietal sulcus and inferior parietal cortex. The presence of apraxia after a stroke is prevalent, and the incidence is sufficient to propose rehabilitation. Copyright © 2017. Published by Elsevier Masson SAS.

Crossed Apraxia of Speech: A Case Report

Science.gov (United States)

Balasubramanian, Venu; Max, Ludo

2004-01-01

The present study reports on the first case of crossed apraxia of speech (CAS) in a 69-year-old right-handed female (SE). The possibility of occurrence of apraxia of speech (AOS) following right hemisphere lesion is discussed in the context of known occurrences of ideomotor apraxias and acquired neurogenic stuttering in several cases with right…

Congenital nystagmus and negative electroretinography

Directory of Open Access Journals (Sweden)

Roussi M

2011-04-01

Full Text Available Mirella Roussi, Hélène Dalens, Jean Jacques Marcellier, Franck BacinDepartment of Ophthalmology, Clermont-Ferrand University, Clermont-Ferrand, FranceAbstract: Congenital nystagmus is a pathologic oculomotor state appearing at about three to four months of age. The precise diagnosis requires detailed clinical examination and electrophysiological findings. This case report presents two male patients with congenital nystagmus examined longitudinally from the age of six months until 17-18 years of age. Clinical and electrophysiological protocols were detailed. The first results showed electronegative electroretinography in the two cases and examination combined with electroretinographic findings helped us to make the diagnosis of Congenital Night Stationary Blindness (CSNB. This diagnosis was confirmed by genetic studies. CSNB is interesting to study because through electrophysiological findings, it enables a better understanding of the physiology of neural transmission in the outer part of the retina.Keywords: Congenital nystagmus, negative electroretinography, congenital night stationary blindness

Unilateral traumatic oculomotor nerve paralysis

International Nuclear Information System (INIS)

Asari, Syoji; Satoh, Toru; Yamamoto, Yuji

1982-01-01

The present authors report a case of unilateral traumatic oculomotor nerve paralysis which shows interesting CT findings which suggest its mechanism. A 60-year-old woman was admitted to our hospital with a cerebral concussion soon after a traffic accident. A CT scan was performed soon after admission. A high-density spot was noted at the medial aspect of the left cerebral peduncle, where the oculomotor nerve emerged from the midbrain, and an irregular, slender, high-density area was delineated in the right dorsolateral surface of the midbrain. Although the right hemiparesis had already improved by the next morning, the function of the left oculomotor nerve has been completely disturbed for the three months since the injury. In our case, it is speculated that an avulsion of the left oculomotor nerve rootlet occurred at the time of impact as the mechanism of the oculomotor nerve paralysis. A CT taken soon after the head injury showed a high-density spot; this was considered to be a hemorrhage occurring because of the avulsion of the nerve rootlet at the medial surface of the cerebral peduncle. (J.P.N.)

A Cognitive Overview of Limb Apraxia.

Science.gov (United States)

Bartolo, Angela; Ham, Heidi Stieglitz

2016-08-01

Since the first studies on limb apraxia carried out by Hugo Liepmann more than a century ago, research interests focused on the way humans process manual gestures by assessing gesture production after patients suffered neurologic deficits. Recent reviews centered their attention on deficits in gesture imitation or processing object-related gestures, namely pantomimes and transitive gestures, thereby neglecting communicative/intransitive gestures. This review will attempt to reconcile limb apraxia in its entirety. To this end, the existing cognitive models of praxis processing that have been designed to account for the complexity of this disorder will be taken into account, with an attempt to integrate in these models the latest findings in the studies of limb apraxia, in particular on meaningful gestures. Finally, this overview questions the very nature of limb apraxia when other cognitive deficits are observed.

Sensitivity of different ADL measures to apraxia and motor impairments.

Science.gov (United States)

Donkervoort, Mireille; Dekker, Joost; Deelman, Betto G

2002-05-01

To determine whether specifically designed activities of daily living (ADL) observations can measure disability due to apraxia with more sensitivity than the Barthel ADL Index, a conventional functional scale. Cross-sectional study. Rehabilitation centres and nursing homes. One hundred and six left hemisphere stroke patients with apraxia, hospitalized in rehabilitation centres and nursing homes. ADL observations, Barthel ADL Index, an apraxia test, Motricity Index, Functional Motor Test. Multivariate analyses showed that the specific ADL observations were associated with severity of apraxia (and not with motor impairments). The Barthel ADL Index was associated with motor impairments (and not with severity of apraxia). The assessment of disability in stroke patients with apraxia cannot rely only on the Barthel ADL Index. In addition, the specific ADL observation procedure is needed to measure disability due to apraxia.

Diagnosis and treatment of upper limb apraxia

OpenAIRE

Dovern, A.; Fink, G. R.; Weiss, P. H.

2012-01-01

Upper limb apraxia, a disorder of higher motor cognition, is a common consequence of left-hemispheric stroke. Contrary to common assumption, apraxic deficits not only manifest themselves during clinical testing but also have delirious effects on the patients’ everyday life and rehabilitation. Thus, a reliable diagnosis and efficient treatment of upper limb apraxia is important to improve the patients’ prognosis after stroke. Nevertheless, to date, upper limb apraxia is still an underdiagnosed...

Imaging of Cranial Nerves III, IV, VI in Congenital Cranial Dysinnervation Disorders.

Science.gov (United States)

Kim, Jae Hyoung; Hwang, Jeong Min

2017-06-01

Congenital cranial dysinnervation disorders are a group of diseases caused by abnormal development of cranial nerve nuclei or their axonal connections, resulting in aberrant innervation of the ocular and facial musculature. Its diagnosis could be facilitated by the development of high resolution thin-section magnetic resonance imaging. The purpose of this review is to describe the method to visualize cranial nerves III, IV, and VI and to present the imaging findings of congenital cranial dysinnervation disorders including congenital oculomotor nerve palsy, congenital trochlear nerve palsy, Duane retraction syndrome, Möbius syndrome, congenital fibrosis of the extraocular muscles, synergistic divergence, and synergistic convergence. © 2017 The Korean Ophthalmological Society.

Apraxia-Kids

Science.gov (United States)

... of us to have a way forward. Competent, skilled professionals have a profoundly positive impact on the lives of children with apraxia and their ... Look for the Helpers in Times of Disaster 3:26 pm High ...

Apraxia and motor dysfunction in corticobasal syndrome.

Directory of Open Access Journals (Sweden)

James R Burrell

Full Text Available BACKGROUND: Corticobasal syndrome (CBS is characterized by multifaceted motor system dysfunction and cognitive disturbance; distinctive clinical features include limb apraxia and visuospatial dysfunction. Transcranial magnetic stimulation (TMS has been used to study motor system dysfunction in CBS, but the relationship of TMS parameters to clinical features has not been studied. The present study explored several hypotheses; firstly, that limb apraxia may be partly due to visuospatial impairment in CBS. Secondly, that motor system dysfunction can be demonstrated in CBS, using threshold-tracking TMS, and is linked to limb apraxia. Finally, that atrophy of the primary motor cortex, studied using voxel-based morphometry analysis (VBM, is associated with motor system dysfunction and limb apraxia in CBS. METHODS: Imitation of meaningful and meaningless hand gestures was graded to assess limb apraxia, while cognitive performance was assessed using the Addenbrooke's Cognitive Examination - Revised (ACE-R, with particular emphasis placed on the visuospatial subtask. Patients underwent TMS, to assess cortical function, and VBM. RESULTS: In total, 17 patients with CBS (7 male, 10 female; mean age 64.4+/- 6.6 years were studied and compared to 17 matched control subjects. Of the CBS patients, 23.5% had a relatively inexcitable motor cortex, with evidence of cortical dysfunction in the remaining 76.5% patients. Reduced resting motor threshold, and visuospatial performance, correlated with limb apraxia. Patients with a resting motor threshold <50% performed significantly worse on the visuospatial sub-task of the ACE-R than other CBS patients. Cortical function correlated with atrophy of the primary and pre-motor cortices, and the thalamus, while apraxia correlated with atrophy of the pre-motor and parietal cortices. CONCLUSIONS: Cortical dysfunction appears to underlie the core clinical features of CBS, and is associated with atrophy of the primary motor and

Speech and orofacial apraxias in Alzheimer's disease.

Science.gov (United States)

Cera, Maysa Luchesi; Ortiz, Karin Zazo; Bertolucci, Paulo Henrique Ferreira; Minett, Thaís Soares Cianciarullo

2013-10-01

Alzheimer's disease (AD) affects not only memory but also other cognitive functions, such as orientation, language, praxis, attention, visual perception, or executive function. Most studies on oral communication in AD focus on aphasia; however, speech and orofacial apraxias are also present in these patients. The aim of this study was to investigate the presence of speech and orofacial apraxias in patients with AD with the hypothesis that apraxia severity is strongly correlated with disease severity. Ninety participants in different stages of AD (mild, moderate, and severe) underwent the following assessments: Clinical Dementia Rating, Mini-Mental State Examination, Lawton Instrumental Activities of Daily Living, a specific speech and orofacial praxis assessment, and the oral agility subtest of the Boston diagnostic aphasia examination. The mean age was 80.2 ± 7.2 years and 73% were women. Patients with AD had significantly lower scores than normal controls for speech praxis (mean difference=-2.9, 95% confidence interval (CI)=-3.3 to -2.4) and orofacial praxis (mean difference=-4.9, 95% CI=-5.4 to -4.3). Dementia severity was significantly associated with orofacial apraxia severity (moderate AD: β =-19.63, p= 0.011; and severe AD: β =-51.68, p speech apraxia severity (moderate AD: β = 7.07, p = 0.001; and severe AD: β =8.16, p Speech and orofacial apraxias were evident in patients with AD and became more pronounced with disease progression.

Interventions for motor apraxia following stroke.

Science.gov (United States)

West, C; Bowen, A; Hesketh, A; Vail, A

2008-01-23

Apraxia is a cognitive disorder that can occur after stroke. It prevents a person from carrying out a learned movement. Various interventions are used to treat apraxia but evidence of their benefit has been lacking. To determine which therapeutic interventions targeted at motor apraxia reduce disability. We searched the Cochrane Stroke Group Trials Register (last searched November 2006). In addition, we searched the following databases: the Cochrane Central Register of Controlled Trials (CENTRAL) (The Cochrane Library Issue 3, 2006), MEDLINE (1966 to November 2007), EMBASE (1980 to November 2006), CINAHL (1982 to November 2006), PsycINFO (1974 to November 2006), the Research Index of the Occupational Therapy Journal (searched November 2006), REHABDATA (1956 to November 2006), the National Research Register (searched November 2006) and Current Controlled Trials Register (searched November 2006). We reviewed the reference lists of all articles that we identified as relevant. We made efforts to find both published and unpublished trials by writing to key authors and journals. Randomised controlled trials of therapeutic intervention for motor apraxia in stroke. One review author searched the titles, abstracts and keywords. Four review authors extracted data and analysed trial quality. We contacted investigators for further details of trials if necessary. Three trials including a total of 132 participants were included in the review. There was evidence of a small and short-lived therapeutic effect in the two studies that reported change in activities of daily living (102 participants) but this was not considered clinically significant and did not persist at the longer-term follow up. There is insufficient evidence to support or refute the effectiveness of specific therapeutic interventions for motor apraxia after stroke. Further research of higher quality is required. As we did not review whether patients with apraxia benefit from rehabilitation input in general, they

Primary progressive aphasia and apraxia of speech.

Science.gov (United States)

Jung, Youngsin; Duffy, Joseph R; Josephs, Keith A

2013-09-01

Primary progressive aphasia is a neurodegenerative syndrome characterized by progressive language dysfunction. The majority of primary progressive aphasia cases can be classified into three subtypes: nonfluent/agrammatic, semantic, and logopenic variants. Each variant presents with unique clinical features, and is associated with distinctive underlying pathology and neuroimaging findings. Unlike primary progressive aphasia, apraxia of speech is a disorder that involves inaccurate production of sounds secondary to impaired planning or programming of speech movements. Primary progressive apraxia of speech is a neurodegenerative form of apraxia of speech, and it should be distinguished from primary progressive aphasia given its discrete clinicopathological presentation. Recently, there have been substantial advances in our understanding of these speech and language disorders. The clinical, neuroimaging, and histopathological features of primary progressive aphasia and apraxia of speech are reviewed in this article. The distinctions among these disorders for accurate diagnosis are increasingly important from a prognostic and therapeutic standpoint. Thieme Medical Publishers 333 Seventh Avenue, New York, NY 10001, USA.

The cognitive rehabilitation of limb apraxia in patients with stroke.

Science.gov (United States)

Cantagallo, Anna; Maini, Manuela; Rumiati, Raffaella Ida

2012-01-01

Apraxia is a higher level motor deficit that occurs when processing a goal-directed action. The apraxic deficit can manifest itself in absence of sensory input deficits or motor output deficits, neglect, frontal inertia or dementia. According to a clinical classification still largely in use, there are two main forms of limb apraxia: ideomotor (IMA) and ideational (IA), observed when a patient is required to imitate a gesture or use an object, respectively. In the present review, we examined only the cognitive treatments of both types of limb apraxia of a vascular aetiology. Despite the high prevalence of limb apraxia caused by left brain damage, and the fact that apraxia has been known for over a century, the literature regarding its rehabilitation is still very limited. This is partly due to the nature of the recovery from the deficit, and in part to the automatic-voluntary dissociation. Here we review those treatments that have proved most successful in helping patients to recover from limb apraxia.

Review of Apraxia: The cognitive side of motor control

DEFF Research Database (Denmark)

Martínez-Ferreiro, Silvia

2014-01-01

Reviews the book, Apraxia: The Cognitive Side of Motor Control by G. Goldenberg (see record 2013-31133-000). The book makes a significant contribution to the study of this multifaceted syndrome, especially in relation to limb apraxia, the author’s main research area. Despite more than 100 years...... of tradition in the field, this book is the first comprehensive account of its history, philosophy and experimental research. Consequently, this volume fulfils both the author’s main aim to assemble a comprehensive review of cases, considerations and theories about apraxia, and fills in an already too long...... the original texts. Part II concerns the survey of contemporary empirical evidence and its impact on the diverse theories available for apraxia. The book concludes with the author’s own view on apraxia and a word on therapy. On the whole, the book provides the reader with deep insights into the evolution...

The Apraxia of Speech Rating Scale: a tool for diagnosis and description of apraxia of speech.

Science.gov (United States)

Strand, Edythe A; Duffy, Joseph R; Clark, Heather M; Josephs, Keith

2014-01-01

The purpose of this report is to describe an initial version of the Apraxia of Speech Rating Scale (ASRS), a scale designed to quantify the presence or absence, relative frequency, and severity of characteristics frequently associated with apraxia of speech (AOS). In this paper we report intra-judge and inter-judge reliability, as well as indices of validity, for the ASRS which was completed for 133 adult participants with a neurodegenerative speech or language disorder, 56 of whom had AOS. The overall inter-judge ICC among three clinicians was 0.94 for the total ASRS score and 0.91 for the number of AOS characteristics identified as present. Intra-judge ICC measures were high, ranging from 0.91 to 0.98. Validity was demonstrated on the basis of strong correlations with independent clinical diagnosis, as well as strong correlations of ASRS scores with independent clinical judgments of AOS severity. Results suggest that the ASRS is a potentially useful tool for documenting the presence and severity of characteristics of AOS. At this point in its development it has good potential for broader clinical use and for better subject description in AOS research. The Apraxia of Speech Rating Scale: A new tool for diagnosis and description of apraxia of speech 1. The reader will be able to explain characteristics of apraxia of speech. 2. The reader will be able to demonstrate use of a rating scale to document the presence and severity of speech characteristics. 3. The reader will be able to explain the reliability and validity of the ASRS. Copyright © 2014 Elsevier Inc. All rights reserved.

Aphasia vs. Apraxia

Science.gov (United States)

... After Stroke Inspirational Stories Stroke Heroes Among Us Aphasia vs. Apraxia Updated:Oct 24,2016 Excerpted from " ... treated by a speech-language pathologist. Read more Aphasia articles: Talking Tech: How technology helps survivors with ...

The syndrome of perisylvian polymicrogyria with congenital arthrogryposis.

Science.gov (United States)

Poduri, Annapurna; Chitsazzadeh, Vida; D'Arrigo, Stefano; Fedrizzi, Ermellina; Pantaleoni, Chiara; Riva, Daria; Busse, Claudia; Küster, Helmut; Duplessis, Adre; Gaitanis, John; Sahin, Mustafa; Garganta, Cheryl; Topcu, Meral; Dies, Kira A; Barry, Brenda J; Partlow, Jennifer; Barkovich, A James; Walsh, Christopher A; Chang, Bernard S

2010-08-01

Bilateral perisylvian polymicrogyria (BPP) is a well-recognized malformation of cortical development commonly associated with epilepsy, cognitive impairment, and oromotor apraxia. Reports have suggested the association of BPP with arthrogryposis multiplex congenita. We sought to investigate the clinical, electrophysiological, and neuroradiological features of this combined syndrome to determine if there are unique features that distinguish BPP with arthrogryposis from BPP alone. Cases of BPP with congenital arthrogryposis were identified from a large research database of individuals with polymicrogyria. Clinical features (including oromotor function, seizures, and joint contractures), MR brain imaging, and results of neuromuscular testing were reviewed. Ten cases of BPP with congenital arthrogryposis were identified. Most cases had some degree of oromotor apraxia. Only a few had seizures, but a majority of cases were still young children. Electrophysiological studies provided evidence for lower motor neuron or peripheral nervous system involvement. On brain imaging, bilateral polymicrogyria (PMG) centered along the Sylvian fissures was seen, with variable extension frontally or parietally; no other cortical malformations were present. We did not identify obvious neuroimaging features that distinguish this syndrome from that of BPP without arthrogryposis. The clinical and neuroimaging features of the syndrome of BPP with congenital arthrogryposis appear similar to those seen in cases of isolated BPP without joint contractures, but electrophysiological studies often demonstrate coexistent lower motor neuron or peripheral nervous system pathology. These findings suggest that BPP with arthrogryposis may have a genetic etiology with effects at two levels of the neuraxis. Copyright 2009 Elsevier B.V. All rights reserved.

Electrical stimulation promotes regeneration of injured oculomotor nerves in dogs

Directory of Open Access Journals (Sweden)

Lei Du

2016-01-01

Full Text Available Functional recovery after oculomotor nerve injury is very poor. Electrical stimulation has been shown to promote regeneration of injured nerves. We hypothesized that electrical stimulation would improve the functional recovery of injured oculomotor nerves. Oculomotor nerve injury models were created by crushing the right oculomotor nerves of adult dogs. Stimulating electrodes were positioned in both proximal and distal locations of the lesion, and non-continuous rectangular, biphasic current pulses (0.7 V, 5 Hz were administered 1 hour daily for 2 consecutive weeks. Analysis of the results showed that electrophysiological and morphological recovery of the injured oculomotor nerve was enhanced, indicating that electrical stimulation improved neural regeneration. Thus, this therapy has the potential to promote the recovery of oculomotor nerve dysfunction.

Shared neural substrates of apraxia and aphasia.

Science.gov (United States)

Goldenberg, Georg; Randerath, Jennifer

2015-08-01

Apraxia is regularly associated with aphasia, but there is controversy whether their co-occurrence is the expression of a common basic deficit or results from anatomical proximity of their neural substrates. However, neither aphasia nor apraxia is an indivisible entity. Both diagnoses embrace diverse manifestations that may occur more or less independently from each other. Thus, the question whether apraxia is always accompanied by aphasia may lead to conflicting answers depending on which of their manifestations are considered. We used voxel based lesion symptom mapping (VLSM) for exploring communalities between lesion sites associated with aphasia and with apraxia. Linguistic impairment was assessed by the Aachen Aphasia Test (AAT) subtests naming, comprehension, repetition, written language, and Token Test. Apraxia was examined for imitation of meaningless hand and finger postures and for pantomime of tool use. There were two areas of overlap between aphasia and apraxia. Lesions in the anterior temporal lobe interfered with pantomime of tool use and with all linguistic tests. In the left inferior parietal lobe there was a large area where lesions were associated with defective imitation of hand postures and with poor scores on written language and the Token Test. Within this large area there were also two spots in supramarginal and angular gyrus where lesions were also associated with defective pantomime. We speculate that the coincidence of language impairment and defective pantomime after anterior temporal lesions is due to impaired access to semantic memory. The combination of defective imitation of hand postures with poor scores on Token Test and written language is not easily compatible with a crucial role of parietal regions for the conversion of concepts of intended actions into motor commands. It accords better with a role of left inferior parietal lobe regions for the categorical perception of spatial relationships. Copyright © 2015 Elsevier Ltd. All

Treatment of limb apraxia: moving forward to improved action.

Science.gov (United States)

Buxbaum, Laurel J; Haaland, Kathleen Y; Hallett, Mark; Wheaton, Lewis; Heilman, Kenneth M; Rodriguez, Amy; Gonzalez Rothi, Leslie J

2008-02-01

Limb apraxia is a common disorder of skilled, purposive movement that is frequently associated with stroke and degenerative diseases such as Alzheimer disease. Despite evidence that several types of limb apraxia significantly impact functional abilities, surprisingly few studies have focused on development of treatment paradigms. Additionally, although the most disabling types of apraxia reflect damage to gesture and/or object memory systems, existing treatments have not fully taken advantage of principles of experience known to affect learning and neural plasticity. We review the current state of the art in the rehabilitation of limb apraxia, indicate possible points of contact with the learning literature, and generate suggestions for how translational principles might be applied to the development of future research on treatment of this disabling disorder.

Assessment of Nonverbal and Verbal Apraxia in Patients with Parkinson’s Disease

Directory of Open Access Journals (Sweden)

Monia Presotto

2015-01-01

Full Text Available Objective. To assess the presence of nonverbal and verbal apraxia in patients with Parkinson’s disease (PD and analyze the correlation between these conditions and patient age, education, duration of disease, and PD stage, as well as evaluate the correlation between the two types of apraxia and the frequency and types of verbal apraxic errors made by patients in the sample. Method. This was an observational prevalence study. The sample comprised 45 patients with PD seen at the Movement Disorders Clinic of the Clinical Hospital of Porto Alegre, Brazil. Patients were evaluated using the Speech Apraxia Assessment Protocol and PD stages were classified according to the Hoehn and Yahr scale. Results. The rate of nonverbal apraxia and verbal apraxia in the present sample was 24.4%. Verbal apraxia was significantly correlated with education (p≤0.05. The most frequent types of verbal apraxic errors were omissions (70.8%. The analysis of manner and place of articulation showed that most errors occurred during the production of trill (57.7% and dentoalveolar (92% phonemes, consecutively. Conclusion. Patients with PD presented nonverbal and verbal apraxia and made several verbal apraxic errors. Verbal apraxia was correlated with education levels.

Effects of ideomotor apraxia on functional outcomes in patients with right hemiplegia.

Science.gov (United States)

Unsal-Delialioglu, Sibel; Kurt, Murat; Kaya, Kurtulus; Culha, Canan; Ozel, Sumru

2008-06-01

The aim of this study was to investigate the effect of ideomotor apraxia on activities of daily living and to determine if the presence of apraxia interferes with rehabilitation. This study was conducted on 47 patients with right hemiplegia. All the patients were assessed at their admission and discharge, respectively, for apraxia by Ideomotor Apraxia Test, for daily living activities by Functional Independence Measure (FIM, Santa Clara Valley Medical Center, San Jose, California, USA), for cognitive functions by Mini Mental State Examination (MMSE), and for language components by Gulhane Aphasia Test (GAT). The effects of apraxia presence and time course on FIM, MMSE, and GAT scores were investigated. Presence of apraxia was found to have significant effect on all test scores (Papraxia and time course on the test scores was not significant either. In other words, apraxic and nonapraxic patients seemed to gain benefits from the neurological rehabilitation. However, mean FIM scores of apraxic patients during discharge have failed to reach the mean FIM scores of nonapraxic patients during admission. Apraxia is considered as an important determinant in the dependence of patients with stroke in their activities of daily living. For this reason, during the initial assessment of patients with right hemiplegia, apraxia should be tested, and the presence of apraxia as well as its severity should be determined.

Acquired apraxia of speech: features, accounts, and treatment.

Science.gov (United States)

Peach, Richard K

2004-01-01

The features of apraxia of speech (AOS) are presented with regard to both traditional and contemporary descriptions of the disorder. Models of speech processing, including the neurological bases for apraxia of speech, are discussed. Recent findings concerning subcortical contributions to apraxia of speech and the role of the insula are presented. The key features to differentially diagnose AOS from related speech syndromes are identified. Treatment implications derived from motor accounts of AOS are presented along with a summary of current approaches designed to treat the various subcomponents of the disorder. Finally, guidelines are provided for treating the AOS patient with coexisting aphasia.

Sensitivity of different ADL measures to apraxia and motor impairments

OpenAIRE

Donkervoort, M.; Dekker, J.; Deelman, B.G.

2002-01-01

Objective: To determine whether specifically designed activities of daily living (ADL) observations can measure disability due to apraxia with more sensitivity than the Barthel ADL Index, a conventional functional scale. Design: Cross-sectional study. Setting: Rehabilitation centres and nursing homes. Subjects: One hundred and six left hemisphere stroke patients with apraxia, hospitalized in rehabilitation centres and nursing homes. Measures: ADL observations, Barthel ADL Index, an apraxia te...

Rehabilitation of limb apraxia improves daily life activities in patients with stroke.

Science.gov (United States)

Smania, N; Aglioti, S M; Girardi, F; Tinazzi, M; Fiaschi, A; Cosentino, A; Corato, E

2006-12-12

We randomly assigned 33 patients with left hemisphere stroke, limb apraxia, and aphasia to an apraxia or a control (aphasia) treatment group. Before and after each treatment, patients underwent a comprehensive neuropsychological testing battery and a caregiver evaluation of patient's activities of daily life (ADL) independence. Apraxia severity was related with ADL independence. Control (aphasia) treatment improved patients' language and intelligence performance. Apraxia treatment specifically improved praxic function and ADL.

Severity and Co-occurrence of Oral and Verbal Apraxias in Left Brain Damaged Adults

Directory of Open Access Journals (Sweden)

Fariba Yadegari

2012-04-01

Full Text Available Objective: Oral and verbal apraxias represent motor programming deficits of nonverbal and verbal movements respectively. Studying their properties may shed light on speech motor control processes. This study was focused on identifying cases with oral or verbal apraxia, their co–occurrences and severities. Materials & Methods: In this non-experimental study, 55 left adult subjects with left brain lesion including 22 women and 33 men with age range of 23 to 84 years, were examined and videotaped using oral apraxia and verbal apraxia tasks. Three speech and language pathologists independently scored apraxia severities. Data were analyzed by independent t test, Pearson, Phi and Contingency coefficients using SPSS 12. Results: Mean score of oral and verbal apraxias in patients with and without oral and verbal apraxias were significantly different (P<0.001. Forty- two patients had simultaneous oral and verbal apraxias, with significant correlation between their oral and verbal apraxia scores (r=0.75, P<0.001. Six patients showed no oral or verbal apraxia and 7 had just one type of apraxia. Comparison of co-occurrence of two disorders (Phi=0.59 and different oral and verbal intensities (C=0.68 were relatively high (P<0.001. Conclusion: The present research revealed co-occurrence of oral and verbal apraxias to a great extent. It appears that speech motor control is influenced by a more general verbal and nonverbal motor control.

Normal and pathologically altered oculomotoric muscles in CT picture

Energy Technology Data Exchange (ETDEWEB)

Kvicala, V.; Balakova, H. (Karlova Univ., Prague (Czechoslovakia). Fakulta Vseobecneho Lekarstvi)

1984-03-01

Computerized tomography reliably visualizes oculomotoric muscles, particularly in coronary projection. 21 patients were examined where computerized tomography of the orbit showed disorders of oculomotoric muscles. Thyreoprivic ophthalmopathy (8 patients) was manifest by non-symmetric irregular thickening of muscles, whose density was unhomogeneously higher. In acromegaly (3 patients) the thickening of the muscles was less, affecting all muscles to a similar degree. Inflammatory and tumorous processes always affected only one oculomotoric muscle.

Apraxia da fala adquirida e desenvolvimental: semelhanças e diferenças Acquired and developmental apraxia of speech: similarities and differences

Directory of Open Access Journals (Sweden)

Thaís Nobre Uchôa Souza

2008-06-01

Full Text Available A apraxia da fala é um distúrbio de comunicação em que ocorre uma incapacidade na programação dos movimentos musculares, necessários para a produção e seqüência de fonemas. O objetivo deste estudo foi realizar um levantamento bibliográfico sobre a apraxia da fala adquirida e desenvolvimental, buscando semelhanças e diferenças em suas características gerais, métodos de avaliação e intervenção fonoaudiológica. Os resultados demonstraram: um número grande de trabalhos sobre as características gerais da apraxia; as atuais pesquisas genéticas com o intuito de descobrir o foco do problema, dentre as quais se destacam os estudos sobre o FOXP2, os estudos de translocação e os estudos neurodesenvolvimentais; a variabilidade dos sintomas na fala, tanto no adulto como na criança; a utilização de protocolos de análise clínica e da análise acústica no diagnóstico. As informações coletadas demonstram que, apesar de as crianças com apraxia da fala desenvolvimental apresentarem comprometimentos práxicos semelhantes aos apresentados em adultos com apraxia da fala adquirida, ambas possuem características próprias, que vão desde sua etiologia até o prognóstico, o que as torna entidades clínicas distintas. Assim, sugere-se a necessidade de maiores investimentos em pesquisas nacionais com objetivos diagnósticos e reabilitadores, considerando parâmetros que possam fornecer subsídios para o diagnóstico diferencial e procedimentos terapêuticos direcionados aos distúrbios motores apráxicos da fala.Apraxia of speech is a communication disorder in which the person is unable to make the muscle movements needed to produce phonemes and phoneme sequences. The purpose of this paper was to carry out a bibliographical survey on acquired and developmental apraxia of speech, searching for their similarities and differences regarding overall characteristics, assessment methods and speech-language pathology intervention. The results

Oculomotor preparation as a rehearsal mechanism in spatial working memory.

Science.gov (United States)

Pearson, David G; Ball, Keira; Smith, Daniel T

2014-09-01

There is little consensus regarding the specific processes responsible for encoding, maintenance, and retrieval of information in visuo-spatial working memory (VSWM). One influential theory is that VSWM may involve activation of the eye-movement (oculomotor) system. In this study we experimentally prevented healthy participants from planning or executing saccadic eye-movements during the encoding, maintenance, and retrieval stages of visual and spatial working memory tasks. Participants experienced a significant reduction in spatial memory span only when oculomotor preparation was prevented during encoding or maintenance. In contrast there was no reduction when oculomotor preparation was prevented only during retrieval. These results show that (a) involvement of the oculomotor system is necessary for optimal maintenance of directly-indicated locations in spatial working memory and (b) oculomotor preparation is not necessary during retrieval from spatial working memory. We propose that this study is the first to unambiguously demonstrate that the oculomotor system contributes to the maintenance of spatial locations in working memory independently from the involvement of covert attention. Copyright © 2014 The Authors. Published by Elsevier B.V. All rights reserved.

Non-right handed primary progressive apraxia of speech.

Science.gov (United States)

Botha, Hugo; Duffy, Joseph R; Whitwell, Jennifer L; Strand, Edythe A; Machulda, Mary M; Spychalla, Anthony J; Tosakulwong, Nirubol; Senjem, Matthew L; Knopman, David S; Petersen, Ronald C; Jack, Clifford R; Lowe, Val J; Josephs, Keith A

2018-07-15

In recent years a large and growing body of research has greatly advanced our understanding of primary progressive apraxia of speech. Handedness has emerged as one potential marker of selective vulnerability in degenerative diseases. This study evaluated the clinical and imaging findings in non-right handed compared to right handed participants in a prospective cohort diagnosed with primary progressive apraxia of speech. A total of 30 participants were included. Compared to the expected rate in the population, there was a higher prevalence of non-right handedness among those with primary progressive apraxia of speech (6/30, 20%). Small group numbers meant that these results did not reach statistical significance, although the effect sizes were moderate-to-large. There were no clinical differences between right handed and non-right handed participants. Bilateral hypometabolism was seen in primary progressive apraxia of speech compared to controls, with non-right handed participants showing more right hemispheric involvement. This is the first report of a higher rate of non-right handedness in participants with isolated apraxia of speech, which may point to an increased vulnerability for developing this disorder among non-right handed participants. This challenges prior hypotheses about a relative protective effect of non-right handedness for tau-related neurodegeneration. We discuss potential avenues for future research to investigate the relationship between handedness and motor disorders more generally. Copyright © 2018 Elsevier B.V. All rights reserved.

Phonological analysis of substitution errors of patients with apraxia of speech

Directory of Open Access Journals (Sweden)

Maysa Luchesi Cera

Full Text Available Abstract The literature on apraxia of speech describes the types and characteristics of phonological errors in this disorder. In general, phonemes affected by errors are described, but the distinctive features involved have not yet been investigated. Objective: To analyze the features involved in substitution errors produced by Brazilian-Portuguese speakers with apraxia of speech. Methods: 20 adults with apraxia of speech were assessed. Phonological analysis of the distinctive features involved in substitution type errors was carried out using the protocol for the evaluation of verbal and non-verbal apraxia. Results: The most affected features were: voiced, continuant, high, anterior, coronal, posterior. Moreover, the mean of the substitutions of marked to markedness features was statistically greater than the markedness to marked features. Conclusions: This study contributes toward a better characterization of the phonological errors found in apraxia of speech, thereby helping to diagnose communication disorders and the selection criteria of phonemes for rehabilitation in these patients.

Oculomotor selection underlies feature retention in visual working memory.

Science.gov (United States)

Hanning, Nina M; Jonikaitis, Donatas; Deubel, Heiner; Szinte, Martin

2016-02-01

Oculomotor selection, spatial task relevance, and visual working memory (WM) are described as three processes highly intertwined and sustained by similar cortical structures. However, because task-relevant locations always constitute potential saccade targets, no study so far has been able to distinguish between oculomotor selection and spatial task relevance. We designed an experiment that allowed us to dissociate in humans the contribution of task relevance, oculomotor selection, and oculomotor execution to the retention of feature representations in WM. We report that task relevance and oculomotor selection lead to dissociable effects on feature WM maintenance. In a first task, in which an object's location was encoded as a saccade target, its feature representations were successfully maintained in WM, whereas they declined at nonsaccade target locations. Likewise, we observed a similar WM benefit at the target of saccades that were prepared but never executed. In a second task, when an object's location was marked as task relevant but constituted a nonsaccade target (a location to avoid), feature representations maintained at that location did not benefit. Combined, our results demonstrate that oculomotor selection is consistently associated with WM, whereas task relevance is not. This provides evidence for an overlapping circuitry serving saccade target selection and feature-based WM that can be dissociated from processes encoding task-relevant locations. Copyright © 2016 the American Physiological Society.

Oculomotor capture during real-world scene viewing depends on cognitive load.

Science.gov (United States)

Matsukura, Michi; Brockmole, James R; Boot, Walter R; Henderson, John M

2011-03-25

It has been claimed that gaze control during scene viewing is largely governed by stimulus-driven, bottom-up selection mechanisms. Recent research, however, has strongly suggested that observers' top-down control plays a dominant role in attentional prioritization in scenes. A notable exception to this strong top-down control is oculomotor capture, where visual transients in a scene draw the eyes. One way to test whether oculomotor capture during scene viewing is independent of an observer's top-down goal setting is to reduce observers' cognitive resource availability. In the present study, we examined whether increasing observers' cognitive load influences the frequency and speed of oculomotor capture during scene viewing. In Experiment 1, we tested whether increasing observers' cognitive load modulates the degree of oculomotor capture by a new object suddenly appeared in a scene. Similarly, in Experiment 2, we tested whether increasing observers' cognitive load modulates the degree of oculomotor capture by an object's color change. In both experiments, the degree of oculomotor capture decreased as observers' cognitive resources were reduced. These results suggest that oculomotor capture during scene viewing is dependent on observers' top-down selection mechanisms. Copyright © 2011 Elsevier Ltd. All rights reserved.

The relationship between working memory and apraxia of speech A interrelação entre memória operacional e apraxia de fala

Directory of Open Access Journals (Sweden)

Fernanda Chapchap Martins

2009-09-01

Full Text Available The present study aimed to verify the relationship between working memory (WM and apraxia of speech and explored which WM components were involved in the motor planning of speech. A total of 22 patients and 22 healthy adults were studied. These patients were selected according to the following inclusion criteria: a single brain lesion in the left hemisphere, presence of apraxia of speech and sufficient oral comprehension. This study involved assessment of apraxia of speech and evaluation of working memory capacity. The performance of apraxic patients was significantly poorer than that of controls, where this reached statistical significance. The study concluded that participants with apraxia of speech presented a working memory deficit and that this was probably related to the articulatory process of the phonoarticulatory loop. Furthermore, all apraxic patients presented a compromise in working memory.O objetivo do presente estudo foi verificar a interrelação entre memória operacional e apraxia verbal e explorar quais os componentes desta memória estariam envolvidos na programação motora da fala. Foram avaliados 22 pacientes apráxicos e 22 controles. Todos os participantes foram submetidos a avaliação da apraxia de fala. Para investigar a memória operacional, foram aplicados o teste de span de dígitos na ordem direta e inversa, um teste de repetição de palavras longas e curtas e o Rey Auditory Verbal Learning Test, que investiga, além da alça articulatória, o buffer episódico. O desempenho dos apráxicos em todos os testes de memória foi estatisticamente significante mais baixo que o desempenho dos controles. Concluímos que indivíduos com apraxia apresentam um déficit na memória operacional e que este déficit está mais relacionado ao processo articulatório da alça fonoarticulatória.

Characterizing a neurodegenerative syndrome: primary progressive apraxia of speech.

Science.gov (United States)

Josephs, Keith A; Duffy, Joseph R; Strand, Edythe A; Machulda, Mary M; Senjem, Matthew L; Master, Ankit V; Lowe, Val J; Jack, Clifford R; Whitwell, Jennifer L

2012-05-01

Apraxia of speech is a disorder of speech motor planning and/or programming that is distinguishable from aphasia and dysarthria. It most commonly results from vascular insults but can occur in degenerative diseases where it has typically been subsumed under aphasia, or it occurs in the context of more widespread neurodegeneration. The aim of this study was to determine whether apraxia of speech can present as an isolated sign of neurodegenerative disease. Between July 2010 and July 2011, 37 subjects with a neurodegenerative speech and language disorder were prospectively recruited and underwent detailed speech and language, neurological, neuropsychological and neuroimaging testing. The neuroimaging battery included 3.0 tesla volumetric head magnetic resonance imaging, [(18)F]-fluorodeoxyglucose and [(11)C] Pittsburg compound B positron emission tomography scanning. Twelve subjects were identified as having apraxia of speech without any signs of aphasia based on a comprehensive battery of language tests; hence, none met criteria for primary progressive aphasia. These subjects with primary progressive apraxia of speech included eight females and four males, with a mean age of onset of 73 years (range: 49-82). There were no specific additional shared patterns of neurological or neuropsychological impairment in the subjects with primary progressive apraxia of speech, but there was individual variability. Some subjects, for example, had mild features of behavioural change, executive dysfunction, limb apraxia or Parkinsonism. Voxel-based morphometry of grey matter revealed focal atrophy of superior lateral premotor cortex and supplementary motor area. Voxel-based morphometry of white matter showed volume loss in these same regions but with extension of loss involving the inferior premotor cortex and body of the corpus callosum. These same areas of white matter loss were observed with diffusion tensor imaging analysis, which also demonstrated reduced fractional anisotropy

EKSPRESI VERBAL PENDERITA APRAXIA WICARA: KASUS GANGGUAN WICARA MURID SDN 2 BATU PUTIH KAB. BOMBANA

Directory of Open Access Journals (Sweden)

Batmang Batmang

2016-05-01

Full Text Available Abstract This study aimed to obtain factual data of the verbal expression of speech apraxia people in order to know the forms of verbal expressions of patients with apraxia speech in terms of aspects of phonological, lexical aspect, and description of non-linguistic abilities. The study was conducted in SD Negeri 2 Batuputih, Southeast Sulawesi with a single subject, a fourth-grade student who suffered speech apraxia. This research was a case study that examined the behavior of language of the speech apraxia patients. The techniques used in data collection are observation, recording, question and answer, and interviews. The instrument used in data collection is, the pictures of objects, field notes, interview guide, and voice recorder. The data analysis was done by using an error analysis and contrastive analysis. The results obtained: (1 in terms of phonological aspects, the speech apraxia patients tended to have difficulty in reciting the phoneme, (2 in terms of lexical aspect, the verbal expressions of the apraxia speech patients are not meaningful at all, what people said just the unmeaning sounds, (3 linguistically speech apraxia patients are unable to express themselves the meaningful words but the non-linguistic one, the observed patients did not show any symptoms of abnormality. Keywords: Apraxia speech, verbal expression, impaired speech   Abstrak Penelitian ini betujuan untuk memperoleh data faktual tentang ekspresi verbal penderita apraxia wicara agar dapat mengetahui bentuk-bentuk ekspresi verbal penderita apraxia wicara dalam hal aspek fonologi, aspek leksikal, dan gambaran tentang kemampuan non-linguistiknya. Penelitian dilakukan di SD Negeri 2 Batuputih, Sulawesi Tenggara dengan subjek tunggal seorang murid kelas IV yang menderita apraxia wicara. Penelitian ini mengkaji perilaku berbahasa pada penderita apraxia wicara. Teknik yang digunakan dalam pengumpulan data adalah: observasi, perekaman, tanya-jawab, dan wawancara. Alat yang

Cerebellum and apraxia.

Science.gov (United States)

Mariën, Peter; van Dun, Kim; Verhoeven, Jo

2015-02-01

As early as the beginning of the nineteenth century, a variety of nonmotor cognitive and affective impairments associated with cerebellar pathology were occasionally documented. A causal link between cerebellar disease and nonmotor cognitive and affective disorders has, however, been dismissed for almost two centuries. During the past decades, the prevailing view of the cerebellum as a mere coordinator of autonomic and somatic motor function has changed fundamentally. Substantial progress has been made in elucidating the neuroanatomical connections of the cerebellum with the supratentorial association cortices that subserve nonmotor cognition and affect. Furthermore, functional neuroimaging studies and neurophysiological and neuropsychological research have shown that the cerebellum is crucially involved in modulating cognitive and affective processes. This paper presents an overview of the clinical and neuroradiological evidence supporting the view that the cerebellum plays an intrinsic part in purposeful, skilled motor actions. Despite the increasing number of studies devoted to a further refinement of the typology and anatomoclinical configurations of apraxia related to cerebellar pathology, the exact underlying pathophysiological mechanisms of cerebellar involvement remain to be elucidated. As genuine planning, organization, and execution disorders of skilled motor actions not due to motor, sensory, or general intellectual failure, the apraxias following disruption of the cerebrocerebellar network may be hypothetically considered to form part of the executive cluster of the cerebellar cognitive affective syndrome (CCAS), a highly influential concept defined by Schmahmann and Sherman (Brain 121:561-579, 1998) on the basis of four symptom clusters grouping related neurocognitive and affective deficits (executive, visuospatial, affective, and linguistic impairments). However, since only a handful of studies have explored the possible role of the cerebellum in

Lack of Awareness for Spatial and Verbal Constructive Apraxia

Science.gov (United States)

Rinaldi, Maria Cristina; Piras, Federica; Pizzamiglio, Luigi

2010-01-01

It is still a matter of debate whether constructive apraxia (CA) should be considered a form of apraxia or, rather, the motor expression of a more pervasive impairment in visuo-spatial processing. Constructive disorders were linked to visuo-spatial disorders and to deficits in appreciating spatial relations among component sub-parts or problems in…

Neural mechanisms of oculomotor abnormalities in the infantile strabismus syndrome.

Science.gov (United States)

Walton, Mark M G; Pallus, Adam; Fleuriet, Jérome; Mustari, Michael J; Tarczy-Hornoch, Kristina

2017-07-01

Infantile strabismus is characterized by numerous visual and oculomotor abnormalities. Recently nonhuman primate models of infantile strabismus have been established, with characteristics that closely match those observed in human patients. This has made it possible to study the neural basis for visual and oculomotor symptoms in infantile strabismus. In this review, we consider the available evidence for neural abnormalities in structures related to oculomotor pathways ranging from visual cortex to oculomotor nuclei. These studies provide compelling evidence that a disturbance of binocular vision during a sensitive period early in life, whatever the cause, results in a cascade of abnormalities through numerous brain areas involved in visual functions and eye movements. Copyright © 2017 the American Physiological Society.

Apraxia for differentiating Alzheimer’s disease from subcortical vascular dementia and mild cognitive impairment

Directory of Open Access Journals (Sweden)

Ozkan S

2013-07-01

Full Text Available Serhat Ozkan,1 Demet Ozbabalik Adapinar,1 Nese Tuncer Elmaci,2 Didem Arslantas31Department of Neurology, Eskisehir Osmangazi University Medical Faculty, Eskisehir, Turkey; 2Department of Neurology, Marmara University Medical Faculty, Istanbul, Turkey; 3Department of Public Health, Eskisehir Osmangazi University Medical Faculty, Eskisehir, TurkeyAbstract: Although ideomotor limb apraxia is considered to be a typical sign of cortical pathologies such as Alzheimer’s disease (AD, it has been also reported in subcortical neurodegenerative diseases and vascular lesions. We aimed to investigate the difference between AD, subcortical vascular dementia (SVaD and mild cognitive impairment (MCI patients by means of ideomotor limb apraxia frequency and severity. Ninety-six AD, 72 SVaD, and 84 MCI patients were assessed with the mini-mental status examination (MMSE, clinical dementia rating (CDR and the apraxia screening test of TULIA (AST. Apraxia was significantly more frequent in the AD patients (32.3% than in both of the SVaD (16.7% and MCI (4.8% patients. The frequency of apraxia was also significantly higher in SVaD patients than in MCI patients. AD patients had significantly lower apraxia scores than both SVaD and MCI patients. In addition, a significant difference was found between SVaD and MCI patients in terms of apraxia scores. These results suggest that the widespread belief of the association between apraxia and cortical dementias is not exactly correct. The significant difference between both of the dementia groups and the MCI patients suggests that the absence of apraxia can be an indicator for MCI diagnosis.Keywords: apraxia, Alzheimer’s disease, subcortical vascular dementia, mild cognitive impairment

Rate and rhythm control strategies for apraxia of speech in nonfluent primary progressive aphasia.

Science.gov (United States)

Beber, Bárbara Costa; Berbert, Monalise Costa Batista; Grawer, Ruth Siqueira; Cardoso, Maria Cristina de Almeida Freitas

2018-01-01

The nonfluent/agrammatic variant of primary progressive aphasia is characterized by apraxia of speech and agrammatism. Apraxia of speech limits patients' communication due to slow speaking rate, sound substitutions, articulatory groping, false starts and restarts, segmentation of syllables, and increased difficulty with increasing utterance length. Speech and language therapy is known to benefit individuals with apraxia of speech due to stroke, but little is known about its effects in primary progressive aphasia. This is a case report of a 72-year-old, illiterate housewife, who was diagnosed with nonfluent primary progressive aphasia and received speech and language therapy for apraxia of speech. Rate and rhythm control strategies for apraxia of speech were trained to improve initiation of speech. We discuss the importance of these strategies to alleviate apraxia of speech in this condition and the future perspectives in the area.

Outcome of strategy training in stroke patients with apraxia: a phase II study.

Science.gov (United States)

van Heugten, C M; Dekker, J; Deelman, B G; van Dijk, A J; Stehmann-Saris, J C; Kinebanian, A

1998-08-01

Evaluation of a therapy programme for stroke patients with apraxia. The programme is based on teaching patients strategies to compensate for the presence of apraxia. This programme was designed for assessment and treatment by occupational therapists. The outcome was studied in a pre-post test design. Measurements were conducted at baseline and 12 weeks later. Thirty-three stroke patients with apraxia were treated at occupational therapy departments n general hospitals, rehabilitation centres and nursing homes. The following measurements were conducted: an apraxia test, a motor functioning test, observation of activities of daily living (ADL), Barthel Index, and an ADL questionnaire for the therapist and the patient. The patients showed large improvements in ADL functioning on all measures and small improvements on the apraxia test and the motor functioning test. The effect sizes for the disabilities, ranging from 0.92 to 1.06, were large compared to the effect sizes for apraxia (0.34) and motor functioning (0.19). The significant effect of treatment is also seen when individual improvement and subjective improvement are considered. Measured with the Barthel Index for instance, 71% of the patients improved. These results suggest that the programme seems to be successful in teaching patients compensatory strategies that enable them to function more independently, despite the lasting presence of apraxia.

Predicting oculomotor behaviour from correlated populations of posterior parietal neurons.

Science.gov (United States)

Graf, Arnulf B A; Andersen, Richard A

2015-01-23

Oculomotor function critically depends on how signals representing saccade direction and eye position are combined across neurons in the lateral intraparietal (LIP) area of the posterior parietal cortex. Here we show that populations of parietal neurons exhibit correlated variability, and that using these interneuronal correlations yields oculomotor predictions that are more accurate and also less uncertain. The structure of LIP population responses is therefore essential for reliable read-out of oculomotor behaviour.

Rate and rhythm control strategies for apraxia of speech in nonfluent primary progressive aphasia

Directory of Open Access Journals (Sweden)

Bárbara Costa Beber

Full Text Available ABSTRACT The nonfluent/agrammatic variant of primary progressive aphasia is characterized by apraxia of speech and agrammatism. Apraxia of speech limits patients' communication due to slow speaking rate, sound substitutions, articulatory groping, false starts and restarts, segmentation of syllables, and increased difficulty with increasing utterance length. Speech and language therapy is known to benefit individuals with apraxia of speech due to stroke, but little is known about its effects in primary progressive aphasia. This is a case report of a 72-year-old, illiterate housewife, who was diagnosed with nonfluent primary progressive aphasia and received speech and language therapy for apraxia of speech. Rate and rhythm control strategies for apraxia of speech were trained to improve initiation of speech. We discuss the importance of these strategies to alleviate apraxia of speech in this condition and the future perspectives in the area.

The Management of Developmental Apraxia.

Science.gov (United States)

Gubbay, S. S.

1978-01-01

Of 39 children (5-12 years old) with developmental apraxia and agnosia, who were assessed neurologically, 19 were also given simple standarized tests of motor ability. Journal availability: see EC 112 661. (Author/SBH)

Evaluation of ideomotor apraxia in patients with stroke: a study of reliability and validity.

Science.gov (United States)

Kaya, Kurtulus; Unsal-Delialioglu, Sibel; Kurt, Murat; Altinok, Nermin; Ozel, Sumru

2006-03-01

This aim of this study was to determine the reliability and validity of an established ideomotor apraxia test when applied to a Turkish stroke patient population and to healthy controls. The study group comprised 50 patients with right hemiplegia and 36 with left hemiplegia, who had developed the condition as a result of a cerebrovascular accident, and 33 age-matched healthy subjects. The subjects were evaluated for apraxia using an established ideomotor apraxia test. The cut-off value of the test and the reliability coefficient between observers were determined. Apraxia was found in 54% patients with right hemiplegia (most being severe) and in 25% of left hemiplegic patients (most being mild). The apraxia scores for patients with right hemiplegia were found to be significantly lower than for those with left hemiplegia and for healthy subjects. There was no statistically significant difference between patients with left hemiplegia and healthy subjects. It was shown that the ideomotor apraxia test could distinguish apraxic from non-apraxic subjects. The reliability coefficient among observers in the study was high and a reliability study of the ideomotor apraxia test was therefore performed.

The intimate nature of oculomotor muscles contracture A natureza íntima da contratura do músculo oculomotor

Directory of Open Access Journals (Sweden)

Carlos Ramos de Souza-Dias

2010-04-01

Full Text Available The author makes comments about the shortening and loss of elasticity of the oculomotor muscle that remains slack for some time (contracture, by means of a reasoning based on the Hooke´s law and on the papers carried out to demonstrate that a muscle that remains relaxed for some time suffers a shortening due to loss of sarcomeres on the longitudinal direction and the increase of the cross-sectional area due to the increase of collagen tissue in the perimysium and the endomysium.O autor procura demonstrar a razão da perda de elasticidade e do encurtamento do músculo oculomotor que permanece relaxado durante certo tempo (contratura, mediante raciocínio baseado na lei de Hooke e nos trabalhos que demonstram que o músculo oculomotor que permanece frouxo por algum tempo sofre encurtamento devido à perda de sarcômeros no sentido longitudinal e ao aumento da área da secção transversa, devida ao aumento do tecido colágeno do perimísio e do endomísio.

Strabismus and the Oculomotor System: Insights from Macaque Models

Science.gov (United States)

Das, Vallabh E.

2017-01-01

Disrupting binocular vision in infancy leads to strabismus and oftentimes to a variety of associated visual sensory deficits and oculomotor abnormalities. Investigation of this disorder has been aided by the development of various animal models, each of which has advantages and disadvantages. In comparison to studies of binocular visual responses in cortical structures, investigations of neural oculomotor structures that mediate the misalignment and abnormalities of eye movements have been more recent, and these studies have shown that different brain areas are intimately involved in driving several aspects of the strabismic condition, including horizontal misalignment, dissociated deviations, A and V patterns of strabismus, disconjugate eye movements, nystagmus, and fixation switch. The responses of cells in visual and oculomotor areas that potentially drive the sensory deficits and also eye alignment and eye movement abnormalities follow a general theme of disrupted calibration, lower sensitivity, and poorer specificity compared with the normally developed visual oculomotor system. PMID:28532347

The Relationship Between Apraxia of Speech and Oral Apraxia: Association or Dissociation?

Science.gov (United States)

Whiteside, Sandra P; Dyson, Lucy; Cowell, Patricia E; Varley, Rosemary A

2015-11-01

Acquired apraxia of speech (AOS) is a motor speech disorder that affects the implementation of articulatory gestures and the fluency and intelligibility of speech. Oral apraxia (OA) is an impairment of nonspeech volitional movement. Although many speakers with AOS also display difficulties with volitional nonspeech oral movements, the relationship between the 2 conditions is unclear. This study explored the relationship between speech and volitional nonspeech oral movement impairment in a sample of 50 participants with AOS. We examined levels of association and dissociation between speech and OA using a battery of nonspeech oromotor, speech, and auditory/aphasia tasks. There was evidence of a moderate positive association between the 2 impairments across participants. However, individual profiles revealed patterns of dissociation between the 2 in a few cases, with evidence of double dissociation of speech and oral apraxic impairment. We discuss the implications of these relationships for models of oral motor and speech control. © The Author 2015. Published by Oxford University Press. All rights reserved. For permissions, please e-mail: journals.permissions@oup.com.

Manual and oral apraxia in acute stroke, frequency and influence on functional outcome: The Copenhagen Stroke Study.

Science.gov (United States)

Pedersen, P M; Jørgensen, H S; Kammersgaard, L P; Nakayama, H; Raaschou, H O; Olsen, T S

2001-09-01

To determine the frequency of manual and oral apraxia in acute stroke and to examine the influence of these symptoms on functional outcome. Seven hundred seventy six unselected, acute stroke patients who were admitted within seven days of stroke onset with unimpaired consciousness were included. If possible, the patients were assessed for manual and oral apraxia on acute admission. Neurologic stroke severity including aphasia was assessed with the Scandinavian Stroke Scale, and activities of daily living function was assessed with the Barthel Index. All patients completed their rehabilitation in the same large stroke unit. Six hundred eighteen patients could cooperate with the apraxia assessments. Manual apraxia was found in 7% of subjects (10% in left and 4% in right hemispheric stroke; chi2 = 9.0; P = 0.003). Oral apraxia was found in 6% (9% in left and 4% in right hemispheric stroke; chi2 = 5.4; P = 0.02). Both manual and oral apraxia were related to increasing stroke severity, and manual, but not oral, apraxia was associated with increasing age. There was no gender difference in frequency of apraxia. Patients with either type of apraxia had temporal lobe involvement more often than patients without. When analyzed with multiple linear and logistic regression analyses, neither manual nor oral apraxia had any independent influence on functional outcome. Apraxia is significantly less frequent in unselected patients with acute stroke than has previously been assumed and has no independent negative influence on functional outcome.

The relationship between severity of apraxia of speech and working memory

Directory of Open Access Journals (Sweden)

Karin Zazo Ortiz

Full Text Available Abstract Based on previously observed relationships between working memory (WM and speech, the current study investigated the relationship between degree of oral apraxia (AOS and WM capacity. Methods: This study involved assessment and classification of degree of apraxia of speech in 22 apraxic participants and evaluation of WM capacity using digit span and word-list repetition tests. Both tests were able to assess the phonoarticulatory loop, while the Rey Auditory Verbal Learning Test investigated the phonoarticulatory loop and the episodic buffer. Results: Independently from the degree of apraxia of speech, all of participants presented compromise in WM. Conclusions: The data presented might suggest that individuals with AOS typically have WM impairment, but it is still not clear if the severity of AOS is related to WM capacity. Future studies could verify the relationship between the severity of apraxia and the severity of WM deficits.

Características clínicas da apraxia de fala na infância: revisão de literatura = Clinical characteristics of childhood apraxia of speech: literature review

Directory of Open Access Journals (Sweden)

Payão, Luzia Miscow da Cruz

2012-01-01

Full Text Available A falta de precisão e consistência dos movimentos de fala na ausência de déficits neuromusculares são características de quadros de apraxia. A alteração ocorre no planejamento e/ou programação de parâmetros espaço-temporais das sequências dos movimentos, resultando em erros na produção dos sons da fala e alterações prosódicas. Essa revisão de literatura pretende abordar a produção normal do gesto articulatório no contexto da fala encadeada, semelhanças e diferenças entre a apraxia de fala na infância e a apraxia adquirida no adulto, além de características encontradas na literatura que auxiliam no diagnóstico da apraxia infantil. Os quadros de apraxia em adultos, ao contrário dos infantis, correspondem a uma perda de função neurológica. Em crianças, essa desordem prejudica o desenvolvimento de funções que estão em processo de aquisição

Outcome of strategy training in stroke patients with apraxia: a phase II study.

OpenAIRE

Heugten, C.M. van; Dekker, J.; Deelman, B.G.; Dijk, A.J. van; Stehmann-Saris, J.C.; Kinebanian, A.

1998-01-01

Objective: Evaluation of a therapy programme for srorke patients with apraxia. The programme is based on teaching patients strategies to compensate for the presence of apraxia. This programme was designed for assessment and treatment by occupational therapists. Design: The outcome was studied in de pre-post design. Measurements were conducted at baseline and 12 weeks later. Subjects: Thirty-three stroke patients with apraxia were treated at occupational therapy departments in general hospital...

How Valid Is the Checklist for Autism Spectrum Disorder When a Child Has Apraxia of Speech?

Science.gov (United States)

Tierney, Cheryl; Mayes, Susan; Lohs, Sally R; Black, Amanda; Gisin, Eugenia; Veglia, Megan

2015-10-01

Our objective was to determine if the Checklist for Autism Spectrum Disorder (CASD) was inadvertently overemphasizing autism symptoms in a population of children without autism. Children noted with communication delays were referred to both a developmental pediatrician and a speech and language pathologist for an apraxia and autism evaluation. All children who underwent both autism and apraxia evaluations and met rule-in or rule-out criteria for both diagnoses were included in the study, resulting in a sample size of 30. Our results show that 63.6% of children initially diagnosed with autism also had apraxia, 36.8% of children initially diagnosed with apraxia also had autism, 23.3% had neither, and 23.3% had both. Overall diagnostic accuracy for the CASD was 96.7%. Overall accuracy for the CASD for children without apraxia was 100% and accuracy for children with apraxia was 94.7%. Specificity for the CASD was 100%, while sensitivity was 90.9%. The PPV was 100% and the NPV was 95.0%. This study demonstrates that the CASD does not overemphasize autism symptoms in a population of children without autism. It also shows that autism and apraxia are highly comorbid. Thus, it is important to monitor all children diagnosed with apraxia for signs of autism and all children diagnosed with autism for signs of apraxia. This will help identify children as early as possible and allow them access to services appropriate to their needs.

GABAergic projections to the oculomotor nucleus in the goldfish (Carassius auratus

Directory of Open Access Journals (Sweden)

M. Angeles eLuque

2011-02-01

Full Text Available The mammalian oculomotor nucleus receives a strong -aminobutyric acid (GABAergic synaptic input, whereas such projections have rarely been reported in fish. In order to determine whether this synaptic organization is preserved across vertebrates, we investigated the GABAergic projections to the oculomotor nucleus in the goldfish by combining retrograde transport of biotin dextran amine, injected into the antidromically identified oculomotor nucleus, and GABA immunohistochemistry. The main source of GABAergic afferents to the oculomotor nucleus was the ipsilateral anterior octaval nucleus, with only a few, if any, GABAergic neurons being located in the contralateral tangential and descending nuclei of the octaval column. In mammals there is a nearly exclusive ipsilateral projection from vestibular neurons to the oculomotor nucleus via GABAergic inhibitory inputs; thus, the vestibulooculomotor GABAergic circuitry follows a plan that appears to be shared throughout the vertebrate phylogeny. The second major source of GABAergic projections was the rhombencephalic reticular formation, primarily from the medial area but, to a lesser extent, from the inferior area. A few GABAergic oculomotor projecting neurons were also observed in the ipsilateral nucleus of the medial longitudinal fasciculus. The GABAergic projections from neurons located in both the reticular formation surrounding the abducens nucleus and the nucleus of the medial reticular formation have primarily been related to the control of saccadic eye movements. Finally, all retrogradely labeled internuclear neurons of the abducens nucleus, and neurons in the cerebellum (close to the caudal lobe, were negative for GABA. These data suggest that the vestibuloocular and saccadic inhibitory GABAergic systems appear early in vertebrate phylogeny to modulate the firing properties of the oculomotor nucleus motoneurons.

Artifact in Pediatric Oculomotor Findings during Videonystagmography: A Retrospective Analysis.

Science.gov (United States)

Doettl, Steven M; Plyler, Patrick N; McCaslin, Devin L

2017-04-01

Accurate measurement of oculomotor function using videonystagmography (VNG) is imperative for diagnosis and management of patients with reported dizziness. The oculomotor evaluation during VNG utilizes video-oculography providing valuable information regarding the central structures and pathways that control eye movements. Artifact may have an effect on the overall validity and reliability of VNG oculomotor tracings and can result from patient and/or recording errors. It is postulated that artifact could occur more frequently in the pediatric population due to both patient and equipment factors. The purpose of this study was to systematically evaluate the occurrence and impact of artifact on saccades, smooth pursuit, and optokinetic (OPK) testing in normal pediatric and adult subjects using commercially available clinical VNG equipment and standard clinical protocols for oculomotor testing. The present study utilized a retrospective analysis of a repeated measures design. Oculomotor results from a total of 62 participants were analyzed. Portions of these data have been presented in a previous research study. Group 1 consisted of twenty-nine 4- to 6-yr-olds with an average age of 4.86 (SD = 0.88) yr. Group 2 consisted of thirty-three 22- to 44-yr-olds with an average age of 25.2 (SD = 5.34) yr. Raw oculomotor recordings were analyzed "offline" by a single masked, trained investigator. Each tracing was evaluated for instances of artifact including eye blinks, eye closure, eyes moving in opposite direction of the target, eye tracking software problems, and overall poor morphology. The number of instances of artifact were noted and recorded for each participant in both groups. Individual eye movements not affected by artifact were included for final analysis. Artifact rejection techniques were also compared. The results indicated increased artifact for the pediatric group for saccade and smooth pursuit testing. Additionally, a significant decrease in instances of

Rehabilitation of stroke patients with apraxia: the role of additional cognitive and motor impairments.

Science.gov (United States)

van Heugten, C M; Dekker, J; Deelman, B G; Stehmann-Saris, J C; Kinebanian, A

2000-08-15

The present study investigated which additional cognitive and motor impairments were present in stroke patients with apraxia and which of these factors influenced the effects of treatment. A group of 33 patients with apraxia were treated according to the guidelines of a therapy programme based on teaching patients strategies to compensate for the presence of apraxia. Patients were treated at occupational therapy departments in general hospitals, rehabilitation centres and nursing homes. The outcome of the strategy training was studied in a pre-post test design; measurements were conducted at baseline and after 12 weeks of therapy. The pretreatment scores of the patients with apraxia were compared to normscores and scores of a control group of patients without apraxia (n = 36) to investigate which impairments are present. The following variables were analysed in order to determine which factors influence outcome: additional neuropsychological deficits (comprehension of language, cognitive impairments due to dementia, neglect and short term memory), level of motor functioning, severity of apraxia and performance on activities of daily living (ADL), and some relevant patient characteristics (gender, age, type of stroke, time since stroke, and location of treatment). The results showed that the presence of apraxia is associated with the presence of additional cognitive and motor impairments. The successful outcome of strategy training was not negatively influenced by cognitive comorbidity. The outcome seemed to be more prominent in patients who were more severely impaired at the start of rehabilitation in terms of the degree of motor impairments, the severity of apraxia and the initial ADL dependence. The ADL observations, however, displayed a ceiling effect, which was taken into account in discussing the results. Demographic variables, especially age, did not predict the outcome of treatment. We suggest that the effect of this training is stronger in more severely

Spatio-temporal dynamics of action-effect associations in oculomotor control.

Science.gov (United States)

Riechelmann, Eva; Pieczykolan, Aleksandra; Horstmann, Gernot; Herwig, Arvid; Huestegge, Lynn

2017-10-01

While there is ample evidence that actions are guided by anticipating their effects (ideomotor control) in the manual domain, much less is known about the underlying characteristics and dynamics of effect-based oculomotor control. Here, we address three open issues. 1) Is action-effect anticipation in oculomotor control reflected in corresponding spatial saccade characteristics in inanimate environments? 2) Does the previously reported dependency of action latency on the temporal effect delay (action-effect interval) also occur in the oculomotor domain? 3) Which temporal effect delay is optimally suited to develop strong action-effect associations over time in the oculomotor domain? Participants executed left or right free-choice saccades to peripheral traffic lights, causing an (immediate or delayed) action-contingent light switch in the upper vs. lower part of the traffic light. Results indicated that saccades were spatially shifted toward the location of the upcoming change, indicating anticipation of the effect (location). Saccade latency was affected by effect delay, suggesting that corresponding time information is integrated into event representations. Finally, delayed (vs. immediate) effects were more effective in strengthening action-effect associations over the course of the experiment, likely due to greater saliency of perceptual changes occurring during target fixation as opposed to changes during saccades (saccadic suppression). Overall, basic principles underlying ideomotor control appear to generalize to the oculomotor domain. Copyright © 2017 Elsevier B.V. All rights reserved.

The course of apraxia and ADL functioning in left hemisphere stroke patients treated in rehabilitation centres and nursing homes.

Science.gov (United States)

Donkervoort, Mireille; Dekker, Joost; Deelman, Betto

2006-12-01

To study the course of apraxia and daily life functioning (ADL) in left hemisphere stroke patients with apraxia. Prospective cohort study. Rehabilitation centres and nursing homes. One hundred and eight left hemisphere stroke patients with apraxia, hospitalized in rehabilitation centres and nursing homes. ADL-observations, Barthel ADL Index, Apraxia Test, Motricity Index. During the study period of 20 weeks, patients showed small improvements in apraxia (standardized mean differences of 0.19 and 0.33) and medium-sized improvements in ADL functioning (standardized mean differences from 0.37 to 0.61). About 88% of the patients were still apraxic at week 20. Less improvement in apraxia was observed in initially less severe apraxic patients. Less improvement in ADL functioning was found to be associated with more severe apraxia, a more independent initial ADL score, higher age, impaired motor functioning and longer time between stroke and first assessment. Apraxia in stroke patients is a persistent disorder, which has an adverse influence on ADL recovery.

Does oculomotor readiness mediate exogenous capture of visual attention?

Science.gov (United States)

MacLean, Gregory H; Klein, Raymond M; Hilchey, Matthew D

2015-10-01

The oculomotor readiness hypothesis makes 2 predictions: Shifts in covert attention are accompanied by preparedness to move one's eyes to the attended region, and preparedness to move one's eyes to a region in space is accompanied by a shift in covert attention to the prepared location. Both predictions have been disconfirmed using an endogenous attention task. In the 2 experiments presented here, the same 2 predictions were tested using an exogenous attention task. It was found that participants experienced covert capture without accompanying oculomotor activation and experienced oculomotor activation without accompanying covert capture. While under everyday conditions the overt and covert orienting systems may be strongly linked, apparently they can nonetheless operate with a high degree of independence from one another. (PsycINFO Database Record (c) 2015 APA, all rights reserved).

The evolution of primary progressive apraxia of speech.

Science.gov (United States)

Josephs, Keith A; Duffy, Joseph R; Strand, Edythe A; Machulda, Mary M; Senjem, Matthew L; Gunter, Jeffrey L; Schwarz, Christopher G; Reid, Robert I; Spychalla, Anthony J; Lowe, Val J; Jack, Clifford R; Whitwell, Jennifer L

2014-10-01

Primary progressive apraxia of speech is a recently described neurodegenerative disorder in which patients present with an isolated apraxia of speech and show focal degeneration of superior premotor cortex. Little is known about how these individuals progress over time, making it difficult to provide prognostic estimates. Thirteen subjects with primary progressive apraxia of speech underwent two serial comprehensive clinical and neuroimaging evaluations 2.4 years apart [median age of onset = 67 years (range: 49-76), seven females]. All underwent detailed speech and language, neurological and neuropsychological assessments, and magnetic resonance imaging, diffusion tensor imaging and (18)F-fluorodeoxyglucose positron emission tomography at both baseline and follow-up. Rates of change of whole brain, ventricle, and midbrain volumes were calculated using the boundary-shift integral and atlas-based parcellation, and rates of regional grey matter atrophy were assessed using tensor-based morphometry. White matter tract degeneration was assessed on diffusion-tensor imaging at each time-point. Patterns of hypometabolism were assessed at the single subject-level. Neuroimaging findings were compared with a cohort of 20 age, gender, and scan-interval matched healthy controls. All subjects developed extrapyramidal signs. In eight subjects the apraxia of speech remained the predominant feature. In the other five there was a striking progression of symptoms that had evolved into a progressive supranuclear palsy-like syndrome; they showed a combination of severe parkinsonism, near mutism, dysphagia with choking, vertical supranuclear gaze palsy or slowing, balance difficulties with falls and urinary incontinence, and one was wheelchair bound. Rates of whole brain atrophy (1.5% per year; controls = 0.4% per year), ventricular expansion (8.0% per year; controls = 3.3% per year) and midbrain atrophy (1.5% per year; controls = 0.1% per year) were elevated (P ≤ 0.001) in all 13

Cortical thickness in children receiving intensive therapy for idiopathic apraxia of speech.

Science.gov (United States)

Kadis, Darren S; Goshulak, Debra; Namasivayam, Aravind; Pukonen, Margit; Kroll, Robert; De Nil, Luc F; Pang, Elizabeth W; Lerch, Jason P

2014-03-01

Children with idiopathic apraxia experience difficulties planning the movements necessary for intelligible speech. There is increasing evidence that targeted early interventions, such as Prompts for Restructuring Oral Muscular Phonetic Targets (PROMPT), can be effective in treating these disorders. In this study, we investigate possible cortical thickness correlates of idiopathic apraxia of speech in childhood, and changes associated with participation in an 8-week block of PROMPT therapy. We found that children with idiopathic apraxia (n = 11), aged 3-6 years, had significantly thicker left supramarginal gyri than a group of typically-developing age-matched controls (n = 11), t(20) = 2.84, p ≤ 0.05. Over the course of therapy, the children with apraxia (n = 9) experienced significant thinning of the left posterior superior temporal gyrus (canonical Wernicke's area), t(8) = 2.42, p ≤ 0.05. This is the first study to demonstrate experience-dependent structural plasticity in children receiving therapy for speech sound disorders.

Rehabilitation of stroke patients with apraxia: the role of additional cognitive and motor impairments.

OpenAIRE

Heugten, C.M. van; Dekker, J.; Deelman, B.G.; Stehmann-Saris, J.C.; Kinebanian, A.

2000-01-01

PURPOSE: The present study investigated which additional cognitive and motor impairments were present in stroke patients with apraxia and which of these factors influenced the effects of treatment. METHOD: A group of 33 patients with apraxia were treated according to the guidelines of a therapy programme based on teaching patients strategies to compensate for the presence of apraxia. Patients were treated at occupational therapy departments in general hospitals, rehabilitation centres and nur...

The bodily experience of apraxia in everyday activities: a phenomenological study.

Science.gov (United States)

Arntzen, Cathrine; Elstad, Ingunn

2013-01-01

The aim of this study is to explore apraxia as a phenomenon in everyday activities, as experienced by a group of stroke patients. Some consequences for clinical practice are suggested. In this phenomenological hermeneutical study, six persons with apraxia were followed from 2 to 6 months, from the early phase of stroke rehabilitation. ADL-situations and interactions with therapists were observed and videotaped repeatedly during the rehabilitation trajectory, to provide access to and familiarity with the participant's apractic difficulties over time. Two in-depth interviews were conducted with each participant. Interviews and video observations were analyzed together, taking Merleau-Ponty's concept of bodily intentionality as basis for analysis and his phenomenology as the main theoretical perspective of the study. Five types of altered bodily intentionality were described by the participants [ 1 ]: Gap between intention and bodily action [ 2 ], Fragmented awareness in action [ 3 ], Peculiar actions and odd bodies [ 4 ], Intentionality on the loose, and [ 5 ] Fighting against tools. These were recognized as characteristics typical of the apraxia experience. The phenomenology of Merleau-Ponty, and his concept of bodily intentionality in particular, elucidate the way specific apractic difficulties come into being and may thus render apraxia less incomprehensible. The apraxia phenomenon appears as characteristic fragmentations of anticipation inherent in action performance, thereby "slackening" the bodily intentionality. Identifying apractic changes of intentionality may help health professionals to adjust and individualize therapy, and facilitate patients' acting competence in everyday life.

Neurotization of oculomotor, trochlear and abducent nerves in skull base surgery

Institute of Scientific and Technical Information of China (English)

李世亭; 潘庆刚; 刘宁涛; 刘忠; 沈峰

2003-01-01

Objective To anatomically reconstruct the oculomotor nerve, trochlear nerve, and abducent nerve by skull base surgery. Methods Seventeen cranial nerves (three oculomotor nerves, eight trochlear nerves and six abducent nerves) were injured and anatomically reconstructed in thirteen skull base operations during a period from 1994 to 2000. Repair techniques included end-to-end neurosuture or fibrin glue adhesion, graft neurosuture or fibrin glue adhesion. The relationships between repair techniques and functional recovery and the related factors were analyzed.Results Functional recovery began from 3 to 8 months after surgery. During a follow-up period of 4 months to 6 years, complete recovery of function was observed in 6 trochlear nerves (75%) and 4 abducent nerves (67%), while partial functional recovery was observed in the other cranial nerves including 2 trochlear nerves, 2 abducent nerves, and 3 oculomotor nerves.Conclusions Complete or partial functional recovery could be expected after anatomical neurotization of an injured oculomotor, trochlear or abducent nerve. Our study demonstrated that, in terms of functional recovery, trochlear and abducent nerves are more responsive than oculomotor nerves, and that end-to-end reconstruction is more efficient than graft reconstruction. These results encourage us to perform reconstruction for a separated cranial nerve as often as possible during skull base surgery.

Avaliação da apraxia em nonagenários: dados de um ambulatório de geriatria = Apraxia evaluation in nonagenarian: data from a geriatric outpatient clinic

Directory of Open Access Journals (Sweden)

Cecato, Juliana Francisca

2016-01-01

Full Text Available Introdução: Apraxia é comumente descrita como um sintoma da doença de Alzheimer (DA. Seu aparecimento em pacientes nonagenários é pouco conhecida. Objetivo: Avaliar e comparar o desempenho de nonagenários portadores de DA e idosos não portadores em subtestes para apraxia. Materiais e Métodos: Foram avaliados 78 indivíduos, com graus variados de escolaridade e com 90 anos ou mais de idade, por meio de Miniexame do Estado Mental (MEEM, Cambridge Cognitive Examination (CAMCOG e o Questionário de Atividades Funcionais de Pfeffer (QAFP. Para analisar a presença de apraxia, foram selecionados oito subitens do CAMCOG: os desenhos do Pentágono, da espiral, da casa, do relógio, e também a tarefa de colocar um pedaço de papel em um envelope; avaliação dos movimentos corretos com uma mão para dar “adeus”, cortar papel com uma tesoura e escovar os dentes. O diagnóstico da DA foi estabelecido de acordo com o National Institute of Neurological and Communicative Disorders and Stroke and The Alzheimer’s disease and Related Disorders Association (NINCDS-ADRDA. Resultados: Encontrou-se para o MEEM média de 18,48 pontos, para o CAMCOG 59,94 pontos e nos subitens Apraxia 8,65 pontos no grupo que recebeu diagnóstico de DA, enquanto que os sem DA (grupo controle apresentou média no MEEM de 26,15 pontos, CAMCOG 82,23 pontos e Apraxia de 9,96 pontos. Estas diferenças são estatisticamente significativas entre os grupos nos testes, respectivamente, p<0,0001, p<0,0001 e p=0,007. Um coeficiente de correlação moderado negativo e significativo pode ser encontrado entre Apraxia e QAFP (r=-0,51; p=0,0003. Conclusão: A presença de apraxia em nonagenários mostrou valores significativamente maiores naqueles portadores de DA em relação aos não portadores

Oculomotor biofeedback therapy for exotropia.

Science.gov (United States)

Goldrich, S G

1982-04-01

Twelve exotropes of various types received oculomotor biofeedback therapy at State College of New York (SUNY) University Optometric Center. Feedback of a variable pitch tone which reflected changes in ocular vergence reinforced motor control of eye posture. Patients were trained to achieve and sustain alignment in a variety of viewing situations. The six intermittent exotropes in the study who did not have amblyopia or prior history of unsuccessful surgical or orthoptic therapy achieved the highest recovery rating after training. The amblyope and those who had orthoptic training learned to voluntarily correct their eye position, although they did not achieve as acute a sensitivity to loss of alignment as did the others. Therapy restored eye control at near in a young constant exotrope whose condition resulted from severe neurological dysfunction. A constant postsurgical exotrope who had no ability for sensory fusion made little progress. Advantages of oculomotor biofeedback therapy are shorter treatment time, elimination of lengthy home training exercises, and enhanced patient motivation.

Outcome of strategy training in stroke patients with apraxia: a phase II study.

NARCIS (Netherlands)

Heugten, C.M. van; Dekker, J.; Deelman, B.G.; Dijk, A.J. van; Stehmann-Saris, J.C.; Kinebanian, A.

1998-01-01

Objective: Evaluation of a therapy programme for srorke patients with apraxia. The programme is based on teaching patients strategies to compensate for the presence of apraxia. This programme was designed for assessment and treatment by occupational therapists. Design: The outcome was studied in de

Ecological implications of ideomotor apraxia: evidence from physical activities of daily living.

Science.gov (United States)

Hanna-Pladdy, B; Heilman, K M; Foundas, A L

2003-02-11

To learn if ideomotor apraxia (IMA) adversely influences skilled acts in the environment and interferes with independent functioning after stroke. The relationship between IMA severity, based on scores from a verbal gesture-to-command (pantomime) task, and the dependency score, as defined by increased caregiver assistance on the Physical Self-Maintenance Scale (PSMS), was investigated in 10 unilateral left hemisphere-damaged stroke patients and 10 matched control subjects. There was a significant relationship between apraxia severity and dependency in physical functioning (PSMS). Impairment on the PSMS in the patients with IMA could not be accounted for based on overall cognitive impairment, poststroke depression, content-conceptual errors, elementary motor impairment, lesion size, or stroke-test interval. Analysis of categories composing the PSMS revealed that the patients with apraxia had increased dependency in grooming, bathing, and toileting relative to age-matched control subjects. These findings emphasize the ecological implications of apraxia and the need for rehabilitation strategies to improve the execution and efficiency of coordinated skilled movements in stroke patients with left hemisphere damage.

Oculomotor impairment during chronic partial sleep deprivation.

Science.gov (United States)

Russo, M; Thomas, M; Thorne, D; Sing, H; Redmond, D; Rowland, L; Johnson, D; Hall, S; Krichmar, J; Balkin, T

2003-04-01

The effects of chronic partial sleep (sleep deprivation) and extended sleep (sleep augmentation) followed by recovery sleep on oculomotor function were evaluated in normal subjects to explore the usefulness of oculomotor assessment for alertness monitoring in fitness-for-duty testing. Sixty-six commercial drivers (24-62 years, 50m/16f) participated in a 15 day study composed of 3 training days with 8h time in bed per night, 7 experimental days with subjects randomly assigned to either 3, 5, 7, or 9h time in bed, and 3 recovery nights with 8h time in bed. Data from 57 subjects were used. Saccadic velocity (SV), initial pupil diameter (IPD), latency to pupil constriction (CL), and amplitude of pupil constriction (CA) were assessed and correlated with the sleep latency test (SLT), the Stanford sleepiness scale (SSS), and simulated driving performance. Regression analyses showed that SV slowed significantly in the 3 and 5h groups, IPD decreased significantly in the 9h group, and CL increased significantly in the 3h group. SLT and SSS significantly correlated with SV, IPD, CL, and driving accidents for the 3h group, and with CL for the 5h group. Analyses also showed a significant negative correlation between decreasing SV and increasing driving accidents in the 3h group and a significant negative correlation between IPD and driving accidents for the 7h group. The results demonstrate a sensitivity primarily of SV to sleepiness, and a correlation of SV and IPD to impaired simulated driving performance, providing evidence for the potential utility of oculomotor indicators in the detection of excessive sleepiness and deterioration of complex motor performance with chronic partial sleep restriction. This paper shows a relationship between sleep deprivation and oculomotor measures, and suggests a potential utility for oculometrics in assessing operational performance readiness under sleep restricted conditions.

Effect of transcranial direct current stimulation on swallowing apraxia and cortical excitability in stroke patients.

Science.gov (United States)

Yuan, Ying; Wang, Jie; Wu, Dongyu; Huang, Xiaobo; Song, Weiqun

2017-10-01

Swallowing apraxia is characterized by impaired volitional swallowing but relatively preserved reflexive swallowing. Few studies are available on the effectiveness of behavioral therapy and management of the condition. This study aimed to investigate the effect of transcranial direct current stimulation (tDCS) on swallowing apraxia and cortical activation in stroke patients. The study included three inpatients (age 48-70 years; 1 male, 2 females; duration of stroke, 35-55 d) with post-stroke swallowing apraxia and six age-matched healthy subjects (age 45-65 years; 3 males, 3 females). Treatments were divided into two phases: Phase A and Phase B. During Phase A, the inpatients received three weeks of sham tDCS and conventional treatments. During Phase B, these patients received three weeks of anodal tDCS over the bilateral primary sensorimotor cortex (S 1 M 1 ) of swallowing and conventional treatments. Swallowing apraxia assessments were measured in three inpatients before Phase A, before Phase B, and after Phase B. The electroencephalography (EEG) nonlinear index of approximate entropy (ApEn) was calculated for three patients and six healthy subjects. After tDCS, scores of swallowing apraxia assessments increased, and ApEn indices increased in both stimulated and non-stimulated areas. Anodal tDCS might provide a useful means for recovering swallowing apraxia, and the recovery could be related to increased excitability of the swallowing cortex. Further investigations should explore the relationship between lesion size and/or lesion site and the prognosis of swallowing apraxia. Clinical trial registry: http://www.chictr.org Registration Number: ChiCTR-TRC-14004955.

A Novel MAPT Mutation Causing Corticobasal Syndrome Led by Progressive Apraxia of Speech.

Science.gov (United States)

Marshall, Charles R; Guerreiro, Rita; Thust, Steffi; Fletcher, Phillip; Rohrer, Jonathan D; Fox, Nick C

2015-01-01

The authors describe a case of corticobasal syndrome led by progressive apraxia of speech, associated with a novel mutation in exon 10 of the MAPT gene. Genetic bases for progressive apraxia of speech and corticobasal syndrome are only rarely described, and have not been described in conjunction.

Manual and oral apraxia in acute stroke, frequency and influence on functional outcome

DEFF Research Database (Denmark)

Pedersen, P M; Jørgensen, H S; Kammersgaard, L P

2001-01-01

To determine the frequency of manual and oral apraxia in acute stroke and to examine the influence of these symptoms on functional outcome.......To determine the frequency of manual and oral apraxia in acute stroke and to examine the influence of these symptoms on functional outcome....

The course of apraxia and ADL functioning in left hemisphere stroke patients treated in rehabilitation centres and nursing homes.

OpenAIRE

Donkervoort, M.; Dekker, J.; Deelman, B.

2006-01-01

OBJECTIVE: To study the course of apraxia and daily life functioning (ADL) in left hemisphere stroke patients with apraxia. DESIGN: Prospective cohort study. SETTING: Rehabilitation centres and nursing homes. SUBJECTS: One hundred and eight left hemisphere stroke patients with apraxia, hospitalized in rehabilitation centres and nursing homes. MEASURES: ADL-observations, Barthel ADL Index, Apraxia Test, Motricity Index. RESULTS: During the study period of 20 weeks, patients showed small improv...

EKSPRESI VERBAL PENDERITA APRAXIA WICARA: KASUS GANGGUAN WICARA MURID SDN 2 BATU PUTIH KAB. BOMBANA

OpenAIRE

Batmang Batmang

2016-01-01

Abstract This study aimed to obtain factual data of the verbal expression of speech apraxia people in order to know the forms of verbal expressions of patients with apraxia speech in terms of aspects of phonological, lexical aspect, and description of non-linguistic abilities. The study was conducted in SD Negeri 2 Batuputih, Southeast Sulawesi with a single subject, a fourth-grade student who suffered speech apraxia. This research was a case study that examined the behavior of language o...

EKSPRESI VERBAL PENDERITA APRAXIA WICARA: KASUS GANGGUAN WICARA MURID SDN 2 BATU PUTIH KAB. BOMBANA

OpenAIRE

Batmang, Batmang

2016-01-01

AbstractThis study aimed to obtain factual data of the verbal expression of speech apraxia people in order to know the forms of verbal expressions of patients with apraxia speech in terms of aspects of phonological, lexical aspect, and description of non-linguistic abilities. The study was conducted in SD Negeri 2 Batuputih, Southeast Sulawesi with a single subject, a fourth-grade student who suffered speech apraxia. This research was a case study that examined the behavior of language of the...

Prevalence of apraxia among patients with a first left hemisphere stroke in rehabilitation centres and nursing homes.

Science.gov (United States)

Donkervoort, M; Dekker, J; van den Ende, E; Stehmann-Saris, J C; Deelman, B G

2000-04-01

To investigate the prevalence of apraxia in patients with a first left hemisphere stroke. Left hemisphere stroke patients staying at an inpatient care unit of a rehabilitation centre or nursing home and receiving occupational therapy (n = 600). A short questionnaire on general patient characteristics and stroke-related aspects was completed by occupational therapists for every left hemisphere stroke patient they treated. A diagnosis of apraxia or nonapraxia was made in every patient, on the basis of a set of clinical criteria. The prevalence of apraxia among 492 first left hemisphere stroke patients in rehabilitation centres was 28% (96/338) and in nursing homes 37% (57/154). No relationship was found between the prevalence of apraxia and age, gender or type of stroke (haemorrhage or infarct). This study shows that approximately one-third of left hemisphere stroke patients has apraxia.

The course of apraxia and ADL functioning in left hemisphere stroke patients treated in rehabilitation centres and nursing homes.

NARCIS (Netherlands)

Donkervoort, M.; Dekker, J.; Deelman, B.

2006-01-01

OBJECTIVE: To study the course of apraxia and daily life functioning (ADL) in left hemisphere stroke patients with apraxia. DESIGN: Prospective cohort study. SETTING: Rehabilitation centres and nursing homes. SUBJECTS: One hundred and eight left hemisphere stroke patients with apraxia, hospitalized

Magnetic Oculomotor Prosthetics for Acquired Nystagmus.

Science.gov (United States)

Nachev, Parashkev; Rose, Geoff E; Verity, David H; Manohar, Sanjay G; MacKenzie, Kelly; Adams, Gill; Theodorou, Maria; Pankhurst, Quentin A; Kennard, Christopher

2017-10-01

Acquired nystagmus, a highly symptomatic consequence of damage to the substrates of oculomotor control, often is resistant to pharmacotherapy. Although heterogeneous in its neural cause, its expression is unified at the effector-the eye muscles themselves-where physical damping of the oscillation offers an alternative approach. Because direct surgical fixation would immobilize the globe, action at a distance is required to damp the oscillation at the point of fixation, allowing unhindered gaze shifts at other times. Implementing this idea magnetically, herein we describe the successful implantation of a novel magnetic oculomotor prosthesis in a patient. Case report of a pilot, experimental intervention. A 49-year-old man with longstanding, medication-resistant, upbeat nystagmus resulting from a paraneoplastic syndrome caused by stage 2A, grade I, nodular sclerosing Hodgkin's lymphoma. We designed a 2-part, titanium-encased, rare-earth magnet oculomotor prosthesis, powered to damp nystagmus without interfering with the larger forces involved in saccades. Its damping effects were confirmed when applied externally. We proceeded to implant the device in the patient, comparing visual functions and high-resolution oculography before and after implantation and monitoring the patient for more than 4 years after surgery. We recorded Snellen visual acuity before and after intervention, as well as the amplitude, drift velocity, frequency, and intensity of the nystagmus in each eye. The patient reported a clinically significant improvement of 1 line of Snellen acuity (from 6/9 bilaterally to 6/6 on the left and 6/5-2 on the right), reflecting an objectively measured reduction in the amplitude, drift velocity, frequency, and intensity of the nystagmus. These improvements were maintained throughout a follow-up of 4 years and enabled him to return to paid employment. This work opens a new field of implantable therapeutic devices-oculomotor prosthetics-designed to modify eye

Rehabilitation of stroke patients with apraxia : the role of additional cognitive and motor impairments

NARCIS (Netherlands)

van Heugten, C.M.; Dekker, J.; Deelman, B.G.; Stehmann-Saris, J.C; Kinebanian, A

Purpose : The present study investigated which additional cognitive and motor impairments were present in stroke patients with apraxia and which of these factors influenced the effects of treatment. Method: A group of 33 patients with apraxia were treated according to the guidelines of a therapy

Rehabilitation of stroke patients with apraxia: the role of additional cognitive and motor impairments.

NARCIS (Netherlands)

Heugten, C.M. van; Dekker, J.; Deelman, B.G.; Stehmann-Saris, J.C.; Kinebanian, A.

2000-01-01

PURPOSE: The present study investigated which additional cognitive and motor impairments were present in stroke patients with apraxia and which of these factors influenced the effects of treatment. METHOD: A group of 33 patients with apraxia were treated according to the guidelines of a therapy

Systematic assessment of apraxia and functional predictions from the Birmingham Cognitive Screen.

Science.gov (United States)

Bickerton, Wai-Ling; Riddoch, M Jane; Samson, Dana; Balani, Alex Bahrami; Mistry, Bejal; Humphreys, Glyn W

2012-05-01

The validity and functional predictive values of the apraxia tests in the Birmingham Cognitive Screen (BCoS) were evaluated. BCoS was developed to identify patients with different forms of praxic deficit using procedures designed to be inclusive for patients with aphasia and/or spatial neglect. Observational studies were conducted from a university neuropsychological assessment centre and from acute and rehabilitation stroke care hospitals throughout an English region. Volunteers from referred patients with chronic acquired brain injuries, a consecutive hospital sample of patients within 3 months of stroke (n=635) and a population based healthy control sample (n=100) were recruited. The main outcome measures used were the Barthel Index, the Nottingham Extended Activities of Daily Living Scale as well as recovery from apraxia. There were high inter-rater reliabilities and correlations between the BCoS apraxia tasks and counterpart tests from the literature. The vast majority (88.3%) of the stroke survivors were able to complete the screen. Pantomime and gesture recognition tasks were more sensitive in differentiating between individuals with left hemisphere damage and right hemisphere damage whereas the Multistep Object Use test and the imitation task had higher functional correlates over and above effects of hemiplegia. Together, the initial scores of the four tasks enabled predictions with 75% accuracy, the recovery of apraxia and independence level at 9 months. As a model based assessment, BCoS offers a quick and valid way to detect apraxia and predict functional recovery. It enables early and informative assessment of most stroke patients for rehabilitation planning.

Assessing Anosognosia in Apraxia of Common Tool-Use With the VATA-NAT

Directory of Open Access Journals (Sweden)

Ilka Buchmann

2018-03-01

Full Text Available In neurological patients, a lack of insight into their impairments can lead to possibly dangerous situations and non-compliance in rehabilitation therapy with worse rehabilitation outcomes as a result. This so called anosognosia is a multifaceted syndrome that can occur after brain damage affecting different neurological or cognitive functions. To our knowledge no study has investigated anosognosia for apraxia of common tool-use (CTU so far. CTU-apraxia is a disorder frequently occurring after stroke that affects the use of familiar objects. Here, we introduce a new questionnaire to diagnose anosognosia for CTU-apraxia, the Visual Analogue Test assessing Anosognosia for Naturalistic Action Tasks (VATA-NAT. This assessment is adapted from a series of VATA-questionnaires that evaluate insight into motor (VATA-M or language (VATA-L impairment and take known challenges such as aphasia into account. Fifty one subacute stroke patients with left (LBD or right (RBD brain damage were investigated including patients with and without CTU-apraxia. Patients were assessed with the VATA-L, -M and -NAT before and after applying a diagnostics session for each function. Interrater reliability, composite reliability as well as convergent and divergent validity were evaluated for the VATA-NAT. Seven percent of the LBD patients with CTU-apraxia demonstrated anosognosia. After tool-use diagnostics this number increased to 20 percent. For the VATA-NAT, psychometric data revealed high interrater-reliability (τ ≥ 0.828, composite reliability (CR ≥ 0.809 and convergent validity (τ = −0.626. When assessing patients with severe aphasia, the possible influence of language comprehension difficulties needs to be taken into account for interpretation. Overall, close monitoring of anosognosia over the course of rehabilitation is recommended. With the VATA-NAT we hereby provide a novel assessment for anosognosia in patients with CTU-apraxia. For diagnosing anosognosia we

Assessing Anosognosia in Apraxia of Common Tool-Use With the VATA-NAT.

Science.gov (United States)

Buchmann, Ilka; Jung, Rebecca; Liepert, Joachim; Randerath, Jennifer

2018-01-01

In neurological patients, a lack of insight into their impairments can lead to possibly dangerous situations and non-compliance in rehabilitation therapy with worse rehabilitation outcomes as a result. This so called anosognosia is a multifaceted syndrome that can occur after brain damage affecting different neurological or cognitive functions. To our knowledge no study has investigated anosognosia for apraxia of common tool-use (CTU) so far. CTU-apraxia is a disorder frequently occurring after stroke that affects the use of familiar objects. Here, we introduce a new questionnaire to diagnose anosognosia for CTU-apraxia, the Visual Analogue Test assessing Anosognosia for Naturalistic Action Tasks (VATA-NAT). This assessment is adapted from a series of VATA-questionnaires that evaluate insight into motor (VATA-M) or language (VATA-L) impairment and take known challenges such as aphasia into account. Fifty one subacute stroke patients with left (LBD) or right (RBD) brain damage were investigated including patients with and without CTU-apraxia. Patients were assessed with the VATA-L, -M and -NAT before and after applying a diagnostics session for each function. Interrater reliability, composite reliability as well as convergent and divergent validity were evaluated for the VATA-NAT. Seven percent of the LBD patients with CTU-apraxia demonstrated anosognosia. After tool-use diagnostics this number increased to 20 percent. For the VATA-NAT, psychometric data revealed high interrater-reliability ( τ ≥ 0.828), composite reliability (CR ≥ 0.809) and convergent validity ( τ = -0.626). When assessing patients with severe aphasia, the possible influence of language comprehension difficulties needs to be taken into account for interpretation. Overall, close monitoring of anosognosia over the course of rehabilitation is recommended. With the VATA-NAT we hereby provide a novel assessment for anosognosia in patients with CTU-apraxia. For diagnosing anosognosia we recommend

Analysis of error type and frequency in apraxia of speech among Portuguese speakers

Directory of Open Access Journals (Sweden)

Maysa Luchesi Cera

Full Text Available Abstract Most studies characterizing errors in the speech of patients with apraxia involve English language. Objectives: To analyze the types and frequency of errors produced by patients with apraxia of speech whose mother tongue was Brazilian Portuguese. Methods: 20 adults with apraxia of speech caused by stroke were assessed. The types of error committed by patients were analyzed both quantitatively and qualitatively, and frequencies compared. Results: We observed the presence of substitution, omission, trial-and-error, repetition, self-correction, anticipation, addition, reiteration and metathesis, in descending order of frequency, respectively. Omission type errors were one of the most commonly occurring whereas addition errors were infrequent. These findings differed to those reported in English speaking patients, probably owing to differences in the methodologies used for classifying error types; the inclusion of speakers with apraxia secondary to aphasia; and the difference in the structure of Portuguese language to English in terms of syllable onset complexity and effect on motor control. Conclusions: The frequency of omission and addition errors observed differed to the frequency reported for speakers of English.

Analysis of error type and frequency in apraxia of speech among Portuguese speakers.

Science.gov (United States)

Cera, Maysa Luchesi; Minett, Thaís Soares Cianciarullo; Ortiz, Karin Zazo

2010-01-01

Most studies characterizing errors in the speech of patients with apraxia involve English language. To analyze the types and frequency of errors produced by patients with apraxia of speech whose mother tongue was Brazilian Portuguese. 20 adults with apraxia of speech caused by stroke were assessed. The types of error committed by patients were analyzed both quantitatively and qualitatively, and frequencies compared. We observed the presence of substitution, omission, trial-and-error, repetition, self-correction, anticipation, addition, reiteration and metathesis, in descending order of frequency, respectively. Omission type errors were one of the most commonly occurring whereas addition errors were infrequent. These findings differed to those reported in English speaking patients, probably owing to differences in the methodologies used for classifying error types; the inclusion of speakers with apraxia secondary to aphasia; and the difference in the structure of Portuguese language to English in terms of syllable onset complexity and effect on motor control. The frequency of omission and addition errors observed differed to the frequency reported for speakers of English.

Modifications of spontaneous oculomotor activity in microgravitational conditions

Science.gov (United States)

Kornilova, L. N.; Goncharenko, A. M.; Polyakov, V. V.; Grigorova, V.; Manev, A.

Investigations on spontaneous oculomotor activity were carried out prior to and after (five cosmonauts) and during space flight (two cosmonauts) on the 3rd, 5th and 164th days of the space flight. Recording of oculomotor activity was carried out by electrooculography on automated data acquisition and processing system "Zora" based on personal computers. During the space flight and after it all the cosmonauts with the eyes closed or open and dark-goggled showed an essential increase of the movements' amplitude when removing the eyes into the extreme positions especially in a vertical direction, occurrence of correcting saccadic movements (or nystagmus), an increase in time of fixing reactions.

Acquired and developmental apraxia of speech: similarities and differences

OpenAIRE

Souza, Thaís Nobre Uchôa; Payão, Luzia Miscow da Cruz

2008-01-01

A apraxia da fala é um distúrbio de comunicação em que ocorre uma incapacidade na programação dos movimentos musculares, necessários para a produção e seqüência de fonemas. O objetivo deste estudo foi realizar um levantamento bibliográfico sobre a apraxia da fala adquirida e desenvolvimental, buscando semelhanças e diferenças em suas características gerais, métodos de avaliação e intervenção fonoaudiológica. Os resultados demonstraram: um número grande de trabalhos sobre as características ge...

Cognitive functions in Childhood Apraxia of Speech

NARCIS (Netherlands)

Nijland, L.; Terband, H.; Maassen, B.

2015-01-01

Purpose: Childhood Apraxia of Speech (CAS) is diagnosed on the basis of specific speech characteristics, in the absence of problems in hearing, intelligence, and language comprehension. This does not preclude the possibility that children with this speech disorder might demonstrate additional

The Time Course of Attentional and Oculomotor Capture Reveals a Common Cause

Science.gov (United States)

Hunt, Amelia R.; von Muhlenen, Adrian; Kingstone, Alan

2007-01-01

Eye movements are often misdirected toward a distractor when it appears abruptly, an effect known as oculomotor capture. Fundamental differences between eye movements and attention have led to questions about the relationship of oculomotor capture to the more general effect of sudden onsets on performance, known as attentional capture. This study…

Treatment intensity and childhood apraxia of speech

NARCIS (Netherlands)

Namasivayam, Aravind K.; Pukonen, Margit; Goshulak, Debra; Hard, Jennifer; Rudzicz, Frank; Rietveld, Toni; Maassen, Ben; Kroll, Robert; van Lieshout, Pascal

BackgroundIntensive treatment has been repeatedly recommended for the treatment of speech deficits in childhood apraxia of speech (CAS). However, differences in treatment outcomes as a function of treatment intensity have not been systematically studied in this population. AimTo investigate the

Primary oculomotor nerve palsy due to mild head injury. Report of two cases

International Nuclear Information System (INIS)

Katsuno, Makoto; Kobayashi, Shiro; Yokota, Hiroyuki; Teramoto, Akira

2008-01-01

Two patients with primary oculomotor nerve palsy due to direct mild head injury are reported. They presented with internal ophthalmoplegia, dilated nonreactive pupils, and very mild disturbance in consciousness. Except for the persistent oculomotor nerve palsy, both the patients recovered fully within one week. Neither demonstrated a history that was suggestive of a cause for their oculomotor nerve palsy. Initial CT scans demonstrated localized subarachnoid hemorrhage around the brain stem. One of the patients had sustained a fracture of the anterior clinoid process. As the underlying pathophysiologic mechanism underlying the oculomotor nerve palsy we suspected mild injury to the pupillomotor fibers at the anterior petroclinoidal ligament and that of the pupillary fibers at the posterior petroclinoidal ligament. We speculate that these perforating fibers at the anterior petroclinoidal ligament acted as a fulcrum due to downward displacement of the brainstem at the time of impact. (author)

Perceptual Color Space Representations in the Oculomotor System Are Modulated by Surround Suppression and Biased Selection

Directory of Open Access Journals (Sweden)

Devin H. Kehoe

2018-01-01

Full Text Available The oculomotor system utilizes color extensively for planning saccades. Therefore, we examined how the oculomotor system actually encodes color and several factors that modulate these representations: attention-based surround suppression and inherent biases in selecting and encoding color categories. We measured saccade trajectories while human participants performed a memory-guided saccade task with color targets and distractors and examined whether oculomotor target selection processing was functionally related to the CIE (x,y color space distances between color stimuli and whether there were hierarchical differences between color categories in the strength and speed of encoding potential saccade goals. We observed that saccade planning was modulated by the CIE (x,y distances between stimuli thus demonstrating that color is encoded in perceptual color space by the oculomotor system. Furthermore, these representations were modulated by (1 cueing attention to a particular color thereby eliciting surround suppression in oculomotor color space and (2 inherent selection and encoding biases based on color category independent of cueing and perceptual discriminability. Since surround suppression emerges from recurrent feedback attenuation of sensory projections, observing oculomotor surround suppression suggested that oculomotor encoding of behavioral relevance results from integrating sensory and cognitive signals that are pre-attenuated based on task demands and that the oculomotor system therefore does not functionally contribute to this process. Second, although perceptual discriminability did partially account for oculomotor processing differences between color categories, we also observed preferential processing of the red color category across various behavioral metrics. This is consistent with numerous previous studies and could not be simply explained by perceptual discriminability. Since we utilized a memory-guided saccade task, this

Perceptual Color Space Representations in the Oculomotor System Are Modulated by Surround Suppression and Biased Selection.

Science.gov (United States)

Kehoe, Devin H; Rahimi, Maryam; Fallah, Mazyar

2018-01-01

The oculomotor system utilizes color extensively for planning saccades. Therefore, we examined how the oculomotor system actually encodes color and several factors that modulate these representations: attention-based surround suppression and inherent biases in selecting and encoding color categories. We measured saccade trajectories while human participants performed a memory-guided saccade task with color targets and distractors and examined whether oculomotor target selection processing was functionally related to the CIE ( x , y ) color space distances between color stimuli and whether there were hierarchical differences between color categories in the strength and speed of encoding potential saccade goals. We observed that saccade planning was modulated by the CIE ( x , y ) distances between stimuli thus demonstrating that color is encoded in perceptual color space by the oculomotor system. Furthermore, these representations were modulated by (1) cueing attention to a particular color thereby eliciting surround suppression in oculomotor color space and (2) inherent selection and encoding biases based on color category independent of cueing and perceptual discriminability. Since surround suppression emerges from recurrent feedback attenuation of sensory projections, observing oculomotor surround suppression suggested that oculomotor encoding of behavioral relevance results from integrating sensory and cognitive signals that are pre-attenuated based on task demands and that the oculomotor system therefore does not functionally contribute to this process. Second, although perceptual discriminability did partially account for oculomotor processing differences between color categories, we also observed preferential processing of the red color category across various behavioral metrics. This is consistent with numerous previous studies and could not be simply explained by perceptual discriminability. Since we utilized a memory-guided saccade task, this indicates that

Apraxia of Speech: Concepts and Controversies

Science.gov (United States)

Ziegler, Wolfram; Aichert, Ingrid; Staiger, Anja

2012-01-01

Purpose: This article was written as an editorial to a collection of original articles on apraxia of speech (AOS) in which some of the more recent advancements in the understanding of this syndrome are discussed. It covers controversial issues concerning the theoretical foundations of AOS. Our approach was motivated by a change of perspective on…

Motor Programming in Apraxia of Speech

Science.gov (United States)

Maas, Edwin; Robin, Donald A.; Wright, David L.; Ballard, Kirrie J.

2008-01-01

Apraxia of Speech (AOS) is an impairment of motor programming. However, the exact nature of this deficit remains unclear. The present study examined motor programming in AOS in the context of a recent two-stage model [Klapp, S. T. (1995). Motor response programming during simple and choice reaction time: The role of practice. "Journal of…

Childhood apraxia of speech and multiple phonological disorders in Cairo-Egyptian Arabic speaking children: language, speech, and oro-motor differences.

Science.gov (United States)

Aziz, Azza Adel; Shohdi, Sahar; Osman, Dalia Mostafa; Habib, Emad Iskander

2010-06-01

Childhood apraxia of speech is a neurological childhood speech-sound disorder in which the precision and consistency of movements underlying speech are impaired in the absence of neuromuscular deficits. Children with childhood apraxia of speech and those with multiple phonological disorder share some common phonological errors that can be misleading in diagnosis. This study posed a question about a possible significant difference in language, speech and non-speech oral performances between children with childhood apraxia of speech, multiple phonological disorder and normal children that can be used for a differential diagnostic purpose. 30 pre-school children between the ages of 4 and 6 years served as participants. Each of these children represented one of 3 possible subject-groups: Group 1: multiple phonological disorder; Group 2: suspected cases of childhood apraxia of speech; Group 3: control group with no communication disorder. Assessment procedures included: parent interviews; testing of non-speech oral motor skills and testing of speech skills. Data showed that children with suspected childhood apraxia of speech showed significantly lower language score only in their expressive abilities. Non-speech tasks did not identify significant differences between childhood apraxia of speech and multiple phonological disorder groups except for those which required two sequential motor performances. In speech tasks, both consonant and vowel accuracy were significantly lower and inconsistent in childhood apraxia of speech group than in the multiple phonological disorder group. Syllable number, shape and sequence accuracy differed significantly in the childhood apraxia of speech group than the other two groups. In addition, children with childhood apraxia of speech showed greater difficulty in processing prosodic features indicating a clear need to address these variables for differential diagnosis and treatment of children with childhood apraxia of speech. Copyright (c

Social Robotics in Therapy of Apraxia of Speech

Directory of Open Access Journals (Sweden)

José Carlos Castillo

2018-01-01

Full Text Available Apraxia of speech is a motor speech disorder in which messages from the brain to the mouth are disrupted, resulting in an inability for moving lips or tongue to the right place to pronounce sounds correctly. Current therapies for this condition involve a therapist that in one-on-one sessions conducts the exercises. Our aim is to work in the line of robotic therapies in which a robot is able to perform partially or autonomously a therapy session, endowing a social robot with the ability of assisting therapists in apraxia of speech rehabilitation exercises. Therefore, we integrate computer vision and machine learning techniques to detect the mouth pose of the user and, on top of that, our social robot performs autonomously the different steps of the therapy using multimodal interaction.

Psycholinguistic and motor theories of apraxia of speech.

Science.gov (United States)

Ziegler, Wolfram

2002-11-01

This article sketches the relationships between modern conceptions of apraxia of speech (AOS) and current models of neuromotor and neurolinguistic disorders. The first section is devoted to neurophysiological perspectives of AOS, and its relation to dysarthrias and to limb apraxia is discussed. The second section introduces the logogen model and considers AOS in relation to supramodal aspects of aphasia. In the third section, AOS with the background of psycholinguistic models of spoken language production, including the Levelt model and connectionist models, is discussed. In the fourth section, the view of AOS as a disorder of speech motor programming is discussed against the background of theories from experimental psychology. The final section considers two models of speech motor control and their relation to AOS. The article discusses the strengths and weaknesses of these approaches.

Mismatch Negativity Responses in Children with a Diagnosis of Childhood Apraxia of Speech (CAS)

Science.gov (United States)

Froud, Karen; Khamis-Dakwar, Reem

2012-01-01

Purpose: To evaluate whether a hypothesis suggesting that apraxia of speech results from phonological overspecification could be relevant for childhood apraxia of speech (CAS). Method: High-density EEG was recorded from 5 children with CAS and 5 matched controls, ages 5-8 years, with and without CAS, as they listened to randomized sequences of CV…

Cognitive Functions in Childhood Apraxia of Speech

Science.gov (United States)

Nijland, Lian; Terband, Hayo; Maassen, Ben

2015-01-01

Purpose: Childhood apraxia of speech (CAS) is diagnosed on the basis of specific speech characteristics, in the absence of problems in hearing, intelligence, and language comprehension. This does not preclude the possibility that children with this speech disorder might demonstrate additional problems. Method: Cognitive functions were investigated…

Novel candidate genes and regions for childhood apraxia of speech identified by array comparative genomic hybridization.

Science.gov (United States)

Laffin, Jennifer J S; Raca, Gordana; Jackson, Craig A; Strand, Edythe A; Jakielski, Kathy J; Shriberg, Lawrence D

2012-11-01

The goal of this study was to identify new candidate genes and genomic copy-number variations associated with a rare, severe, and persistent speech disorder termed childhood apraxia of speech. Childhood apraxia of speech is the speech disorder segregating with a mutation in FOXP2 in a multigenerational London pedigree widely studied for its role in the development of speech-language in humans. A total of 24 participants who were suspected to have childhood apraxia of speech were assessed using a comprehensive protocol that samples speech in challenging contexts. All participants met clinical-research criteria for childhood apraxia of speech. Array comparative genomic hybridization analyses were completed using a customized 385K Nimblegen array (Roche Nimblegen, Madison, WI) with increased coverage of genes and regions previously associated with childhood apraxia of speech. A total of 16 copy-number variations with potential consequences for speech-language development were detected in 12 or half of the 24 participants. The copy-number variations occurred on 10 chromosomes, 3 of which had two to four candidate regions. Several participants were identified with copy-number variations in two to three regions. In addition, one participant had a heterozygous FOXP2 mutation and a copy-number variation on chromosome 2, and one participant had a 16p11.2 microdeletion and copy-number variations on chromosomes 13 and 14. Findings support the likelihood of heterogeneous genomic pathways associated with childhood apraxia of speech.

Efficacy of strategy training in left hemisphere stroke patients with apraxia: a randomised clinical trial.

NARCIS (Netherlands)

Donkervoort, M.; Dekker, J.; Stehmann-Saris, F.C.; Deelman, B.G.

2001-01-01

The objective of the present study was to determine in a controlled study the efficacy of strategy training in left hemisphere stroke patients with apraxia. A total of 113 left hemisphere stroke patients with apraxia were randomly assigned to two treatment groups; (1) strategy training integrated

Efficacy of strategy training in left hemisphere stroke patients with apraxia : A randomised clinical trial

NARCIS (Netherlands)

Donkervoort, M; Dekker, J; Stehmann-Saris, FC; Deelman, B. G.

2001-01-01

The objective of the present study was to determine in a controlled study the efficacy of strategy training in left hemisphere stroke patients with apraxia. A total of 113 left hemisphere stroke patients with apraxia were randomly assigned to two treatment groups; (1) strategy training integrated

Instrumentos para avaliação de apraxia de fala infantil

OpenAIRE

Gubiani, Marileda Barichello; Pagliarin, Karina Carlesso; Keske-Soares, Marcia

2015-01-01

RESUMO Objetivo: Revisar sistematicamente na literatura os principais instrumentos utilizados para avaliação da apraxia de fala infantil. Estratégia de pesquisa: Realizou-se busca nas bases Scopus, PubMed e Embase Critérios de seleção: Foram selecionados estudos empíricos que utilizaram instrumentos de avaliação da apraxia de fala infantil. Análise dos dados: A seleção dos artigos foi realizada por dois pesquisadores independentes. Resultados: Foram encontrados 695 resumos. Após a l...

The significance of clumsy gestures in apraxia following a left hemisphere stroke.

Science.gov (United States)

Kangas, Maria; Tate, Robyn L

2006-02-01

Individuals who sustain a cerebrovascular accident (CVA) in the dominant (typically left) hemisphere, are at increased risk of developing motor skill deficits due to motor-sensory impairments, as well as cognitive impairments (e.g., apraxia). Clumsiness is a central component affecting motor skills in individuals with a left hemisphere CVA (LCVA). The term "clumsiness" however, has not been adequately operationalised in the apraxia literature in clinical terms, thereby making diagnosis difficult and its contribution to apraxic disorders uncertain. Accordingly, in this study "clumsiness" was explicitly defined by establishing a set of four criteria. The non-dominant (left) hand movements of three groups of participants were examined: 10 individuals with limb-apraxia (APX); 8 individuals without limb apraxia who had sustained a LCVA (NAPX); and 19 healthy individuals without a history of brain impairment (NBD). Performance was examined on four sets of motor tasks, including a conventional praxis test, basic perceptual-motor co-ordination and fine movement tasks, and a naturalistic actions test. A striking finding that emerged was that clumsy errors occurred frequently in all groups, including the NBD group, particularly on the praxis and fine motor tasks. In terms of quantity of clumsy errors emitted, the APX group made significantly more clumsy gestures across all four tasks in comparison to the NBD group. No differences emerged between the two clinical groups, however, in terms of total clumsy gestures emitted on the naturalistic action tasks, or the type of clumsy errors emitted on the fine motor tasks. Thus, frequency and types of clumsy gestures were partly determined by task demands. These results highlight the need to consider the contribution of clumsy gestures in limb functioning following hemispheric brain damage. In broad terms, these findings emphasise the importance of adopting more detailed analyses of movement errors in apraxia and assessments of

Oculomotor paralysis: 3D-CISS MR imaging with MPR in the evaluation of neuralgic manifestation and the adjacent structures

Energy Technology Data Exchange (ETDEWEB)

Sun Xiaoli; Liang Changhu [Shandong Medical Imaging Research Institute, Shandong University, Jing-wu Road No. 324, Jinan 250021 (China); Liu Cheng [Shandong Medical Imaging Research Institute, Shandong University, Jing-wu Road No. 324, Jinan 250021 (China)], E-mail: sdsxl2005@126.com; Liu Shuwei; Deng Kai; He Jingzhen [Shandong Medical Imaging Research Institute, Shandong University, Jing-wu Road No. 324, Jinan 250021 (China)

2010-02-15

Purpose: To evaluate the value of three-dimensional (3D) constructive interference in steady-state (CISS) magnetic resonance (MR) imaging with multi-planar reconstruction (MPR) in displaying the relationship between the oculomotor nerve and its adjacent structures for patients with oculomotor paralysis. Materials and methods: 17 consecutive patients with oculomotor paralysis were examined with 3D-CISS and conventional spin-echo (SE) sequences on a 1.5-Tesla MR system. Original transverse and MPR images were used for image interpretation. The features of the oculomotor nerve and its adjacent structures were identified. The diagnosis was surgically confirmed in all patients. Results: Through 3D-CISS with MPR images, obvious relationship of the oculomotor nerve and its adjacent structures was demonstrated on 17 patients. Of those oculomotor nerves, 15 were compressed by the arteries (n = 15), one by the craniopharyngioma (n = 1), and another one by the neurofibroma (n = 1). Conclusion: 3D-CISS MR imaging with MPR provides an excellent way to characterize the relationship between the nerve and its adjacent structures in the cisternal segment of the oculomotor nerve in the patients with oculomotor paralysis. Moreover, this method shows anatomical details for imaging diagnosis and surgical procedure.

Oculomotor paralysis: 3D-CISS MR imaging with MPR in the evaluation of neuralgic manifestation and the adjacent structures

International Nuclear Information System (INIS)

Sun Xiaoli; Liang Changhu; Liu Cheng; Liu Shuwei; Deng Kai; He Jingzhen

2010-01-01

Purpose: To evaluate the value of three-dimensional (3D) constructive interference in steady-state (CISS) magnetic resonance (MR) imaging with multi-planar reconstruction (MPR) in displaying the relationship between the oculomotor nerve and its adjacent structures for patients with oculomotor paralysis. Materials and methods: 17 consecutive patients with oculomotor paralysis were examined with 3D-CISS and conventional spin-echo (SE) sequences on a 1.5-Tesla MR system. Original transverse and MPR images were used for image interpretation. The features of the oculomotor nerve and its adjacent structures were identified. The diagnosis was surgically confirmed in all patients. Results: Through 3D-CISS with MPR images, obvious relationship of the oculomotor nerve and its adjacent structures was demonstrated on 17 patients. Of those oculomotor nerves, 15 were compressed by the arteries (n = 15), one by the craniopharyngioma (n = 1), and another one by the neurofibroma (n = 1). Conclusion: 3D-CISS MR imaging with MPR provides an excellent way to characterize the relationship between the nerve and its adjacent structures in the cisternal segment of the oculomotor nerve in the patients with oculomotor paralysis. Moreover, this method shows anatomical details for imaging diagnosis and surgical procedure.

Treatment Intensity and Childhood Apraxia of Speech

Science.gov (United States)

Namasivayam, Aravind K.; Pukonen, Margit; Goshulak, Debra; Hard, Jennifer; Rudzicz, Frank; Rietveld, Toni; Maassen, Ben; Kroll, Robert; van Lieshout, Pascal

2015-01-01

Background: Intensive treatment has been repeatedly recommended for the treatment of speech deficits in childhood apraxia of speech (CAS). However, differences in treatment outcomes as a function of treatment intensity have not been systematically studied in this population. Aim: To investigate the effects of treatment intensity on outcome…

Perceptual Color Space Representations in the Oculomotor System Are Modulated by Surround Suppression and Biased Selection

OpenAIRE

Kehoe, Devin H.; Rahimi, Maryam; Fallah, Mazyar

2018-01-01

The oculomotor system utilizes color extensively for planning saccades. Therefore, we examined how the oculomotor system actually encodes color and several factors that modulate these representations: attention-based surround suppression and inherent biases in selecting and encoding color categories. We measured saccade trajectories while human participants performed a memory-guided saccade task with color targets and distractors and examined whether oculomotor target selection processing was...

Non-Hodgkin's lymphoma of the sphenoid sinus presenting as isolated oculomotor nerve palsy

Directory of Open Access Journals (Sweden)

Huh Ji

2007-08-01

Full Text Available Abstract Background Solitary involvement of the sphenoid sinus has rarely been reported in non-Hodgkin's lymphoma. Isolated oculomotor nerve palsy is uncommon as an initial presentation of malignant tumors of the sphenoid sinus. Case presentation A 53-year-old woman presented with a three-month history of headache and diplopia. Neurological examination revealed complete left oculomotor nerve palsy. Magnetic Resonance Imaging (MRI demonstrated a homogenous soft-tissue lesion occupying the left sphenoid sinus and invading the left cavernous sinus. The patient underwent transsphenoidal biopsy and the lesion was histologically diagnosed as non-Hodgkin's lymphoma, diffuse large B-cell type. Tumor cells were positive for CD20 and negative for CD3. Following six cycles of chemotherapy, the left oculomotor nerve palsy that had been previously observed was completely resolved. There was no enhancing lesion noted on follow-up MRI. Conclusion It is important to recognize that non-Hodgkin's lymphoma of the sphenoid sinus can present with isolated oculomotor nerve palsy, although it is extremely rare. The cranial nerve deficits can resolve dramatically after chemotherapy.

Improved function after combined physical and mental practice after stroke: a case of hemiparesis and apraxia.

Science.gov (United States)

Wu, Andy J; Radel, Jeff; Hanna-Pladdy, Brenda

2011-01-01

This study describes change in functional performance and self-perception after participation in combined training with physical practice followed by mental practice. The patient was a 44-yr-old white man who experienced a single left ischemic stroke 7 mo before enrollment in the study. He engaged in physical and mental practice of two functional tasks: (1) reaching for and grasping a cup and (2) turning pages in a book with the more-affected arm. Practice took place 3 times per week during 60-min sessions for 6 consecutive wk. Primary outcome measures were the Arm Motor Ability Test (AMAT) and the Canadian Occupational Performance Measure (COPM). An abbreviated version of the Florida Apraxia Battery gesture-to-verbal command test approximated severity of ideomotor apraxia. After intervention, the patient demonstrated increased functional performance (AMAT) and self-perception of performance (COPM) despite persistent ideomotor apraxia. The results of this single-case report indicate functional benefit from traditional rehabilitation techniques despite comorbid, persisting ideomotor apraxia.

Improved Necker Cube Drawing-Based Assessment Battery for Constructional Apraxia: The Mie Constructional Apraxia Scale (MCAS

Directory of Open Access Journals (Sweden)

Masayuki Satoh

2016-09-01

Full Text Available Background/Aims: Constructional apraxia (CA is usually diagnosed by having patients draw figures; however, the reported assessments only evaluate the drawn figure. We designed a new assessment battery for CA (the Mie Constructional Apraxia Scale, MCAS which includes both the shape and drawing process, and investigated its utility against other assessment methods. Methods: We designed the MCAS, and evaluated inter- and intrarater reliability. We also investigated the sensitivity, specificity, and positive and negative predictive values in dementia patients, and compared MCAS assessment with other reported batteries in the same subjects. Results: Moderate interrater reliability was shown for speech therapists with limited experience. Moderate to substantial intrarater reliability was shown several weeks after initial assessment. When cutoff scores and times were set at 2/3 points and 39/40 s, sensitivity and specificity were 77.1 and 70.4%, respectively, with positive and negative predictive values of 80.0 and 66.7%, respectively. Dementia patients had significantly worse scores and times for Necker cube drawing than an elderly control group on the MCAS, and on other assessments. Conclusions: We conclude that the MCAS, which includes both the assessment of the drawn Necker cube shape and the drawing process, is useful for detecting even mild CA.

Senior Loken Syndrome

Directory of Open Access Journals (Sweden)

F Najafi

2011-02-01

Full Text Available The etiology of ESRD under the age of 20 almost is the inherited kidney disease or congenital disorders of urinary tract. NPHP/ medullary cystic disease includes a group of tubulo- genetic kidney disorders. NPHP is the cause of 15-20% ESRD in children and adolescents. The extra renal manifestations include: oculomotor Apraxia(Cogan syndrome, mental retardation, retinitis pigmentosa, (Senior- Loken syndrome liver fibrosis and skeletal disorders. Recently, on the basis of genetics and type of the protein product of these mutations, NPHP is divided to 6 types. The presented case is a 17 year old boy with end stage renal disease that he has been managed with hemodialysis. As the patient has polyuria and disturbance in vision from childhood and on physical examination he had retinitis pigmentosa and horizontal nystagmus with a history of chronic kidney disease in his 12 years old sister, and familial marriage between his parents, we suggest NPHP4 for the patient.

The tool in the brain: Apraxia in ADL.

Directory of Open Access Journals (Sweden)

Marta M. N. Bienkiewicz

2014-04-01

Full Text Available Humans differ from other animals in the way they can skilfully and precisely operate or invent tools to facilitate their everyday life. Tools have dominated our home, travel and work environment, becoming an integral step for our motor skills development. What happens when the part of the brain responsible for tool use is damaged in our adult life due to a cerebrovascular accident? How does daily life change when we lose the previously mastered ability to make use of the objects around us? How do patients suffering from compromised tool use cope with food preparation, personal hygiene, grooming, housework or use of home appliances? In this literature review we present a state of the art for single and multiple tool use research, with a focus on the impact that apraxia (impaired ability to perform tool-based actions and action disorganisation syndrome (impaired ability to carry our multi-step actions have on activities of daily living (ADL. Firstly, we summarise the behavioural studies investigating the impact of apraxia and other comorbidity syndromes, such as neglect or visual extinction, on ADL. We discuss the hallmarks of the compromised tool use in terms of the sequencing of action steps, conceptual errors committed, spatial motor control and temporal organisation of the movement. In addition, we present an up-to-date overview of the neuroimaging and lesion analyses studies that provide an insight into neural correlates of tool use in the human brain and functional changes in the neural organisation following a stroke, in the context of ADL. Finally we discuss the current practice in neurorehabilitation of ADL in apraxia and action disorganisation syndrome aiming at increasing patients’ independence.

A novel c.5308_5311delGAGA mutation in Senataxin in a Cypriot family with an autosomal recessive cerebellar ataxia

Directory of Open Access Journals (Sweden)

Zamba-Papanicolaou Eleni

2008-04-01

Full Text Available Abstract Background Senataxin (chromosome 9q34 was recently identified as the causative gene for an autosomal recessive form of Ataxia (ARCA, termed as Ataxia with Oculomotor Apraxia, type 2 (AOA2 and characterized by generalized incoordination, cerebellar atrophy, peripheral neuropathy, "oculomotor apraxia" and increased alpha-fetoprotein (AFP. Here, we report a novel Senataxin mutation in a Cypriot ARCA family. Methods We studied several Cypriot autosomal recessive cerebellar ataxia (ARCA families for linkage to known ARCA gene loci. We linked one family (909 to the SETX locus on chromosome 9q34 and screened the proband for mutations by direct sequencing. Results Sequence analysis revealed a novel c.5308_5311delGAGA mutation in exon 11 of the SETX gene. The mutation has not been detected in 204 control chromosomes from the Cypriot population, the remaining Cypriot ARCA families and 37 Cypriot sporadic cerebellar ataxia patients. Conclusion We identified a novel SETX homozygous c.5308_5311delGAGA mutation that co-segregates with ARCA with cerebellar atrophy and raised AFP.

Oral Articulatory Control in Childhood Apraxia of Speech

Science.gov (United States)

Grigos, Maria I.; Moss, Aviva; Lu, Ying

2015-01-01

Purpose: The purpose of this research was to examine spatial and temporal aspects of articulatory control in children with childhood apraxia of speech (CAS), children with speech delay characterized by an articulation/phonological impairment (SD), and controls with typical development (TD) during speech tasks that increased in word length. Method:…

Bite Block Vowel Production in Apraxia of Speech

Science.gov (United States)

Jacks, Adam

2008-01-01

Purpose: This study explored vowel production and adaptation to articulatory constraints in adults with acquired apraxia of speech (AOS) plus aphasia. Method: Five adults with acquired AOS plus aphasia and 5 healthy control participants produced the vowels [iota], [epsilon], and [ash] in four word-length conditions in unconstrained and bite block…

Vowel Acoustics in Adults with Apraxia of Speech

Science.gov (United States)

Jacks, Adam; Mathes, Katey A.; Marquardt, Thomas P.

2010-01-01

Purpose: To investigate the hypothesis that vowel production is more variable in adults with acquired apraxia of speech (AOS) relative to healthy individuals with unimpaired speech. Vowel formant frequency measures were selected as the specific target of focus. Method: Seven adults with AOS and aphasia produced 15 repetitions of 6 American English…

Comparison of Apraxia between Patients with Senile Dementia of Alzheimer Type and Normal Aged People

Directory of Open Access Journals (Sweden)

Fariba Yadegari

2007-07-01

Full Text Available Objective: In addition to memory deficits and aphasia, many patients with Alzheimer’s disease (AD are apraxic which may bring about disturbances in their daily living. The purpose of present study was investigating the presence of any apraxic disorder in patients with senile dementia of Alzheimer type (SDAT and comparison with normal aged people. Materials & Methods: In this case–control and analytical study 14 SDAT patients were compared with 20 normal ageing people that they were matched with patients according to age and education. Patients were selected from Iranian Alzheimer Association clients with psychiatrist diagnostic confirmation and MMSE scores between 15-27 and compared with controls with MMSE scores between 25-30. Apraxia Test was administered on both groups. The Test included 4 subtests: conceptual movements gestured conceptual movements, oral and respiratory movements & pantomime of movements of object manipulations. Data was analyzed by using Kolmogoroff – Smirnoff test, Man – Witney, T-test for independent groups and pearsonian correlation coefficient. Results: Findings showed that apraxia scores were significantly (P<0/001 different between groups so that (SDAT patients were diagnosed as apraxic and controls were not. Besides, comparison of subtests scores of (SDAT patients revealed that conceptual movements scores were significantly (P<0/001 less than the other subtests (more apraxic and oral and respiratory movements scores were significantly (P<0/001 higher than the other subtests (less apraxic. Conclusion: Apraxia could be considered as one of the neuropsychological signs early in the disease development. It can be applied complementarily for differential diagnosis. Also apraxia subgroup scoring could be used for apraxia categorization, understanding observed disorders and determining possible rehabilitation ways.

Limb apraxia in a patient with cerebral infarct: diffusion tensor tractography study.

Science.gov (United States)

Hong, Ji Heon; Lee, Jun; Cho, Yoon Woo; Byun, Woo Mok; Cho, Hee Kyung; Son, Su Min; Jang, Sung Ho

2012-01-01

We report on a patient with ideomotor apraxia (IMA) and limb-kinetic apraxia (LKA) following cerebral infarct, which demonstrated neural tract injuries by diffusion tensor tractography (DTT). A 67-year-old male was diagnosed as cerebral infarct in the left frontal cortex (anterior portion of the precentral gyrus and prefrontal cortex) and centrum semiovale. The patient presented with severe paralysis of the right upper extremity and mild weakness of the right lower extremity at onset. At the time of DTT scanning (5 months after onset), the patient was able to move all joint muscles of the right upper extremity against gravity, except for the finger extensors, which he could extend partially against gravity. The patient showed intact ideational plan for motor performance; however, his movements were slow, clumsy, and mutilated when executing grasp-release movements of his affected hand. The patient's score on the ideomotor apraxia test was 20 (cut-off score < 32). DTTs for premotor cortex fibers, supplementary motor area fibers, and superior longitudinal fasciculus of the left hemisphere showed partial injuries, compared with those of the right side, and these injuries appeared to be responsible for IMA and LKA in this patient.

Evolutionary autonomous agents and the nature of apraxia

Directory of Open Access Journals (Sweden)

Jin Frank

2005-01-01

Full Text Available Abstract Background Evolutionary autonomous agents are robots or robot simulations whose controller is a dynamical neural network and whose evolution occurs autonomously under the guidance of a fitness function without the detailed or explicit direction of an external programmer. They are embodied agents with a simple neural network controller and as such they provide the optimal forum by which sensorimotor interactions in a specified environment can be studied without the computational assumptions inherent in standard neuroscience. Methods Evolutionary autonomous agents were evolved that were able to perform identical movements under two different contexts, one which represented an automatic movement and one which had a symbolic context. In an attempt to model the automatic-voluntary dissociation frequently seen in ideomotor apraxia, lesions were introduced into the neural network controllers resulting in a behavioral dissociation with loss of the ability to perform the movement which had a symbolic context and preservation of the simpler, automatic movement. Results Analysis of the changes in the hierarchical organization of the networks in the apractic EAAs demonstrated consistent changes in the network dynamics across all agents with loss of longer duration time scales in the network dynamics. Conclusion The concepts of determinate motor programs and perceptual representations that are implicit in the present day understanding of ideomotor apraxia are assumptions inherent in the computational understanding of brain function. The strength of the present study using EAAs to model one aspect of ideomotor apraxia is the absence of these assumptions and a grounding of all sensorimotor interactions in an embodied, autonomous agent. The consistency of the hierarchical changes in the network dynamics across all apractic agents demonstrates that this technique is tenable and will be a valuable adjunct to a computational formalism in the understanding

Clinical and Anatomical Correlates of Apraxia of Speech

Science.gov (United States)

Ogar, Jennifer; Willock, Sharon; Baldo, Juliana; Wilkins, David; Ludy, Carl; Dronkers, Nina

2006-01-01

In a previous study (Dronkers, 1996), stroke patients identified as having apraxia of speech (AOS), an articulatory disorder, were found to have damage to the left superior precentral gyrus of the insula (SPGI). The present study sought (1) to characterize the performance of patients with AOS on a classic motor speech evaluation, and (2) to…

Recurrent Isolated Oculomotor Nerve Palsy after Radiation of a Mesencephalic Metastasis. Case Report and Mini Review

Science.gov (United States)

Grabau, Olga; Leonhardi, Jochen; Reimers, Carl D.

2014-01-01

Introduction: Recurrent oculomotor nerve palsies are extremely rare clinical conditions. Case report: Here, we report on a unique case of a short-lasting recurrent unilateral incomplete external and complete internal oculomotor nerve palsy. The episodic palsies were probably caused by an ipsilateral mesencephalic metastasis of a breast carcinoma and occurred after successful brain radiation therapy. Discussion: While the pathogenic mechanism remains unclear, the recurrent sudden onset and disappearance of the palsies and their decreasing frequency after antiepileptic treatment suggest the occurrence of epilepsy-like brainstem seizures. A review of case reports of spontaneous reversible oculomotor nerve palsies is presented. PMID:25104947

Recurrent isolated oculomotor nerve palsy after radiation of a mesencephalic metastasis. Case report and mini-review.

Directory of Open Access Journals (Sweden)

Olga eGrabau

2014-07-01

Full Text Available Introduction: Recurrent oculomotor nerve palsies are extremely rare clinical conditions. Case report: Here, we report on a unique case of a short-lasting recurrent unilateral incomplete external and complete internal oculomotor nerve palsy. The episodic palsies were probably caused by an ipsilateral mesencephalic metastasis of a breast carcinoma and occurred after successful brain radiation therapy. Discussion: While the pathogenic mechanism remains unclear, the recurrent sudden onset and disappearance of the palsies and their decreasing frequency after antiepileptic treatment suggest the occurrence of epilepsy-like brainstem seizures. A review of case reports of spontaneous reversible oculomotor nerve palsies is presented.

Oculomotor abnormalities in children with Niemann-Pick type C.

Science.gov (United States)

Blundell, James; Frisson, Steven; Chakrapani, Anupam; Gissen, Paul; Hendriksz, Chris; Vijay, Suresh; Olson, Andrew

2018-02-01

Niemann-Pick type C (NP-C) is a rare recessive disorder associated with progressive supranuclear gaze palsy. Degeneration occurs initially for vertical saccades and later for horizontal saccades. There are studies of oculomotor degeneration in adult NP-C patients [1, 2] but no comparable studies in children. We used high-resolution video-based eye tracking to record monocular vertical and horizontal eye movements in 2 neurological NP-C patients (children with clinically observable oculomotor abnormalities) and 3 pre-neurological NP-C patients (children without clinically observable oculomotor abnormalities). Saccade onset latency, saccade peak velocity and saccade curvature were compared to healthy controls (N=77). NP-C patients had selective impairments of vertical saccade peak velocity and vertical saccade curvature, with slower peak velocities and greater curvature. Changes were more pronounced in neurological than pre-neurological patients, showing that these measures are sensitive to disease progress, but abnormal curvature and slowed downward saccades were present in both groups, showing that eye-tracking can register disease-related changes before these are evident in a clinical exam. Both slowing, curvature and the detailed characteristics of the curvature we observed are predicted by the detailed characteristics of RIMLF population codes. Onset latencies were not different from healthy controls. High-resolution video-based eye tracking is a promising sensitive and objective method to measure NP-C disease severity and neurological onset. It may also help evaluate responses to therapeutic interventions. Copyright © 2017. Published by Elsevier Inc.

Antecedent occipital alpha band activity predicts the impact of oculomotor events in perceptual switching

Directory of Open Access Journals (Sweden)

Hironori eNakatani

2013-05-01

Full Text Available Oculomotor events such as blinks and saccades transiently interrupt the visual input and, even though this mostly goes undetected, these brief interruptions could still influence the percept. In particular, both blinking and saccades facilitate switching in ambiguous figures such as the Necker cube. To investigate the neural state antecedent to these oculomotor events during the perception of an ambiguous figure, we measured the human scalp electroencephalogram (EEG. When blinking led to perceptual switching, antecedent occipital alpha band activity exhibited a transient increase in amplitude. When a saccade led to switching, a series of transient increases and decreases in amplitude was observed in the antecedent occipital alpha band activity. Our results suggest that the state of occipital alpha band activity predicts the impact of oculomotor events on the percept.

Sensitivity of different ADL measures to apraxia and motor impairments

NARCIS (Netherlands)

Donkervoort, M; Dekker, Joost; Deelman, BG

Objective: To determine whether specifically designed activities of daily living (ADL) observations can measure disability due to apraxia with more sensitivity than the Barthel ADL Index, a conventional functional scale. Design: Cross-sectional study. Setting: Rehabilitation centres and nursing

Sensitivity of different ADL measures to apraxia and motor impairments

NARCIS (Netherlands)

Donkervoort, M.; Dekker, J.; Deelman, B.G.

2002-01-01

Objective: To determine whether specifically designed activities of daily living (ADL) observations can measure disability due to apraxia with more sensitivity than the Barthel ADL Index, a conventional functional scale. Design: Cross-sectional study. Setting: Rehabilitation centres and nursing

Feedback Frequency in Treatment for Childhood Apraxia of Speech

Science.gov (United States)

Maas, Edwin; Butalla, Christine E.; Farinella, Kimberly A.

2012-01-01

Purpose: To examine the role of feedback frequency in treatment for childhood apraxia of speech (CAS). Reducing the frequency of feedback enhances motor learning, and recently, such feedback frequency reductions have been recommended for the treatment of CAS. However, no published studies have explicitly compared different feedback frequencies in…

Oculomotor nerve palsy by posterior communicating artery aneurysms: influence of surgical strategy on recovery.

Science.gov (United States)

Güresir, Erdem; Schuss, Patrick; Seifert, Volker; Vatter, Hartmut

2012-11-01

Resolution of oculomotor nerve palsy (ONP) after clipping of posterior communicating artery (PCoA) aneurysms has been well documented. However, whether additional decompression of the oculomotor nerve via aneurysm sac dissection or resection is superior to pure aneurysm clipping is the subject of much debate. Therefore, the objective in the present investigation was to analyze the influence of surgical strategy--specifically, clipping with or without aneurysm dissection--on ONP resolution. Between June 1999 and December 2010, 18 consecutive patients with ruptured and unruptured PCoA aneurysms causing ONP were treated at the authors' institution. Oculomotor nerve palsy was evaluated on admission and at follow-up. The electronic database MEDLINE was searched for additional data in published studies of PCoA aneurysms causing ONP. Two reviewers independently extracted data. Overall, 8 studies from the literature review and 6 patients in the current series (121 PCoA aneurysms) met the study inclusion criteria. Ninety-four aneurysms were treated with simple aneurysm neck clipping and 27 with clipping plus aneurysm sac decompression. The surgical strategy, simple aneurysm neck clipping versus clipping plus oculomotor nerve decompression, had no effect on full ONP resolution on univariate (p = 0.5) and multivariate analyses. On multivariate analysis, patients with incomplete ONP at admission were more likely to have full resolution of the palsy than were those with complete ONP at admission (p = 0.03, OR = 4.2, 95% CI 1.1-16). Data in the present study indicated that ONP caused by PCoA aneurysms improves after clipping without and with oculomotor nerve decompression. The resolution of ONP is inversely associated with the initial severity of ONP.

Pediatric Oculomotor Findings during Monocular Videonystagmography: A Developmental Study.

Science.gov (United States)

Doettl, Steven M; Plyler, Patrick N; McCaslin, Devin L; Schay, Nancy L

2015-09-01

The differential diagnosis of a dizzy patient >4 yrs old is often aided by videonystagmography (VNG) testing to provide a global assessment of peripheral and central vestibular function. Although the value of a VNG evaluation is well-established, it remains unclear if the VNG test battery is as applicable to the pediatric population as it is for adults. Oculomotor testing specifically, as opposed to spontaneous, positional, and caloric testing, is dependent upon neurologic function. Thus, age and corresponding neuromaturation may have a significant effect on oculomotor findings. The purpose of this investigation was to describe the effect of age on various tests of oculomotor function during a monocular VNG examination. Specifically, this study systematically characterized the impact of age on saccade tracking, smooth pursuit tracking, and optokinetic (OPK) nystagmus. The present study used a prospective, repeated measures design. A total of 62 healthy participants were evaluated. Group 1 consisted of 29 4- to 6-yr-olds. Group 2 consisted of 33 21- to 44-yr-olds. Each participant completed a standard VNG oculomotor test battery including saccades, smooth pursuit, and OPK testing in randomized order using a commercially available system. The response metrics saccade latency, accuracy, and speed, smooth pursuit gain, OPK nystagmus gain, speed and asymmetry ratios were collected and analyzed. Significant differences were noted between groups for saccade latency, smooth pursuit gain, and OPK asymmetry ratios. Saccade latency was significantly longer for the pediatric participants compared to the adult participants. Smooth pursuit gain was significantly less for the pediatric participants compared to the adult participants. The pediatric participants also demonstrated increased OPK asymmetry ratios compared to the adult participants. Significant differences were noted between the pediatric and adult participants for saccade latency, smooth pursuit gain, and OPK

A Treatment for Dysprosody in Childhood Apraxia of Speech

Science.gov (United States)

Ballard, Kirrie J.; Robin, Donald A.; McCabe, Patricia; McDonald, Jeannie

2010-01-01

Purpose: Dysprosody is considered a core feature of childhood apraxia of speech (CAS), especially impaired production of lexical stress. Few studies have tested the effects of intervention for dysprosody. This Phase II study with 3 children investigated the efficacy of a treatment targeting improved control of relative syllable durations in…

Script Training Treatment for Adults with Apraxia of Speech

Science.gov (United States)

Youmans, Gina; Youmans, Scott R.; Hancock, Adrienne B.

2011-01-01

Purpose: Outcomes of script training for individuals with apraxia of speech (AOS) and mild anomic aphasia were investigated. Script training is a functional treatment that has been successful for individuals with aphasia but has not been applied to individuals with AOS. Principles of motor learning were incorporated into training to promote…

Effect of subthalamic nucleus or globus pallidus interna stimulation on oculomotor function in patients with Parkinson's disease.

Science.gov (United States)

Fridley, Jared; Adams, Gareth; Sun, Ping; York, Michelle; Atassi, Farah; Lai, Eugene; Simpson, Richard; Viswanathan, Ashwin; Yoshor, Daniel

2013-01-01

Deep brain stimulation (DBS) of either the globus pallidus interna (GPi) or subthalamic nucleus (STN) is similarly effective for treating somatomotor manifestations of Parkinson's disease (PD), but differences in how stimulation of each target affects oculomotor function are poorly understood. We sought to determine if stimulation of the STN, but not the GPi, affects oculomotor function in PD patients. Nineteen PD patients with DBS implants (8 bilateral GPi, 9 bilateral STN and 2 unilateral STN) were studied. Testing was performed with stimulation on, then off. Somatomotor function was tested using the Unified Parkinson's Disease Rating Scale (UPDRS) motor exam. For oculomotor testing, patients performed pro- and antisaccade tasks while monitored with an infrared eye tracker. Saccadic latency, saccadic intrusions, and square-wave jerks (SWJs) were measured for each trial. As expected, UPDRS motor scores improved with both GPi and STN stimulation. With GPi stimulation, there was no significant difference in oculomotor function with stimulation on or off. However, with STN stimulation on, there was a significant increase in the mean number of SWJs/s, as well as a significant decrease in latency for both pro- and antisaccade tasks. Stimulation of either GPi or STN had similar effects on somatomotor function, but only STN stimulation significantly altered oculomotor function. Copyright © 2013 S. Karger AG, Basel.

Regeneração aberrante do nervo oculomotor secundária a aneurisma intracraniano: relato de caso Aberrant regeneration of the oculomotor nerve followed by intracranial aneurysm: case report

Directory of Open Access Journals (Sweden)

Renato Wendell Ferreira Damasceno

2008-06-01

Full Text Available Relatar um caso de regeneração aberrante secundária à paralisia aguda do nervo oculomotor causada por aneurisma intracraniano. Paciente atendida em fevereiro de 2006 queixando-se de dor de cabeça acompanhada de visão dupla e queda da pálpebra no olho direito. Na avaliação da motilidade ocular extrínseca, verificou-se incapacidade da adução, da supradução e da infradução associada à blefaroptose no olho direito. Com relação à motilidade intrínseca, midríase paralítica no olho direito. Formulou-se diagnóstico de paralisia aguda de nervo oculomotor no olho direito e solicitou-se avaliação neurológica. No Departamento de Neurocirurgia, após ser diagnosticada presença de aneurisma de artéria comunicante posterior, a paciente foi submetida a tratamento cirúrgico. Em dezembro de 2006, observou-se melhora relativa da adução, mantendo a incapacidade da supradução e da infradução com blefaroptose melhorada à adução do olho direito. Com relação à motilidade intrínseca, miose no olho afetado. O diagnóstico de regeneração aberrante do nervo oculomotor pós-paralisia aguda foi formulado baseando-se na anamnese e nos exames oftalmológicos seqüenciais.To report a case of aberrant regeneration followed by acute palsy of the oculomotor nerve caused by intracranial aneurysm. A 59-year-old patient was attended in February 2006 complaining of headache with diplopia and blepharoptosis in the right eye. At the external ocular motility exam. Aduction, supraduction and infraduction defects with blepharoptosis in the right eye were observed. Regarding the internal ocular motility, mydriasis in the right eye. Acute palsy of the oculomotor nerve in the right eye was diagnosed and neurological examination was requested. At the Department of Neurosurgery, after having diagnosed aneurysm of the posterior communicating artery, the patient was submitted to an operation. In December 2006, it improvement of the aduction was

Syllable Frequency and Syllable Structure in Apraxia of Speech

Science.gov (United States)

Aichert, Ingrid; Ziegler, Wolfram

2004-01-01

Recent accounts of the pathomechanism underlying apraxia of speech (AOS) were based on the speech production model of Levelt, Roelofs, and Meyer, and Meyer (1999)1999. The apraxic impairment was localized to the phonetic encoding level where the model postulates a mental store of motor programs for high-frequency syllables. Varley and Whiteside…

Agnosia, apraxia, callosal disconnection and other specific cognitive disorders.

Science.gov (United States)

Acciarresi, Monica

2012-01-01

Cortical function deficits have long been studied by anatomoclinic correlations. Recent functional imaging studies have allowed scientists to better understand which cerebral areas and which networks are involved in cognitive function deficit. This chapter will review the current knowledge on agnosia, apraxia and callosal disconnection syndromes. Copyright © 2012 S. Karger AG, Basel.

Malignant peripheral nerve sheath tumor of the oculomotor nerve

DEFF Research Database (Denmark)

Kozic, D; Nagulic, M; Ostojic, J

2006-01-01

We present the short-term follow-up magnetic resonance (MR) studies and 1H-MR spectroscopy in a child with malignant peripheral nerve sheath tumor of the oculomotor nerve associated with other less aggressive cranial nerve schwannomas. The tumor revealed perineural extension and diffuse nerve...

The Effects of Feature-Based Priming and Visual Working Memory on Oculomotor Capture.

Science.gov (United States)

Silvis, Jeroen D; Belopolsky, Artem V; Murris, Jozua W I; Donk, Mieke

2015-01-01

Recently, it has been demonstrated that objects held in working memory can influence rapid oculomotor selection. This has been taken as evidence that perceptual salience can be modified by active working memory representations. The goal of the present study was to examine whether these results could also be caused by feature-based priming. In two experiments, participants were asked to saccade to a target line segment of a certain orientation that was presented together with a to-be-ignored distractor. Both objects were given a task-irrelevant color that varied per trial. In a secondary task, a color had to be memorized, and that color could either match the color of the target, match the color of the distractor, or it did not match the color of any of the objects in the search task. The memory task was completed either after the search task (Experiment 1), or before it (Experiment 2). The results showed that in both experiments the memorized color biased oculomotor selection. Eye movements were more frequently drawn towards objects that matched the memorized color, irrespective of whether the memory task was completed after (Experiment 1) or before (Experiment 2) the search task. This bias was particularly prevalent in short-latency saccades. The results show that early oculomotor selection performance is not only affected by properties that are actively maintained in working memory but also by those previously memorized. Both working memory and feature priming can cause early biases in oculomotor selection.

The Effects of Feature-Based Priming and Visual Working Memory on Oculomotor Capture

Science.gov (United States)

Silvis, Jeroen D.; Belopolsky, Artem V.; Murris, Jozua W. I.; Donk, Mieke

2015-01-01

Recently, it has been demonstrated that objects held in working memory can influence rapid oculomotor selection. This has been taken as evidence that perceptual salience can be modified by active working memory representations. The goal of the present study was to examine whether these results could also be caused by feature-based priming. In two experiments, participants were asked to saccade to a target line segment of a certain orientation that was presented together with a to-be-ignored distractor. Both objects were given a task-irrelevant color that varied per trial. In a secondary task, a color had to be memorized, and that color could either match the color of the target, match the color of the distractor, or it did not match the color of any of the objects in the search task. The memory task was completed either after the search task (Experiment 1), or before it (Experiment 2). The results showed that in both experiments the memorized color biased oculomotor selection. Eye movements were more frequently drawn towards objects that matched the memorized color, irrespective of whether the memory task was completed after (Experiment 1) or before (Experiment 2) the search task. This bias was particularly prevalent in short-latency saccades. The results show that early oculomotor selection performance is not only affected by properties that are actively maintained in working memory but also by those previously memorized. Both working memory and feature priming can cause early biases in oculomotor selection. PMID:26566137

The Role of the Oculomotor System in Updating Visual-Spatial Working Memory across Saccades

OpenAIRE

Boon, Paul J.; Belopolsky, Artem V.; Theeuwes, Jan

2016-01-01

Visual-spatial working memory (VSWM) helps us to maintain and manipulate visual information in the absence of sensory input. It has been proposed that VSWM is an emergent property of the oculomotor system. In the present study we investigated the role of the oculomotor system in updating of spatial working memory representations across saccades. Participants had to maintain a location in memory while making a saccade to a different location. During the saccade the target was displaced, which ...

Preliminary MRI study in patients with congenital complex strabismus

International Nuclear Information System (INIS)

Man Fengyuan; Wang Zhenchang; Zhao Bo; Zhu Lei; Xian Junfang; Wang Shijun; Jiao Yonghong; Wu Xiao; Zhao Kanxing

2009-01-01

Objective: Although the ocular motility examination has been traditionally used in the diagnosis of complex strabismus resulting from cranial nerve (CN) and extraocular muscles (EOM) abnormalities, magnetic resonance imaging (MRI) now permits the direct imaging of lesions in CNs and EOMs. Methods: Twenty-six patients with complex strabismus underwent MRI examination on 1.5 T MR unit (Twinspeed, GE). Nerves to EOMs were imaged with T 1 weighted in orbits in all patients using phase array surface coils. Results: Patients with Duane syndrome (15 cases, 19 eyes) all exhibited absence or hypoplasia of abducens nerve (CN6), always with mild hypoplasia and apparent misdirection of oculomotor nerve (CN3) to the lateral rectus muscle in the orbit, and there were no hypoplasia of EOMs. Patients with congenital fibrosis of EOMs (9 cases, 16 eyes) exhibited severe hypoplasia of CN3 and CN6, and EOMs appeared hypoptasia to a different degree, particularly severe for the superior rectus and levated palpted muscles. Multiple nerves displayed aplasia in patients with Mobius syndrome (1 ease, 2 eyes) and there was abnormal branch from CN3 to lateral rectus. The tendons of bilateral superior oblique muscles were thin in the patients with Brown syndrome (1 case, 2 eyes). Conclusion: MRI can directly demonstrate absence or hypoplasia of CNs and corresponding EOM abnormalities in congenital complex strabismus, which suggests that the mechanism of congenital complex strabismus is perhaps abnormal innervation or displasia of the ocular motor nerves. (authors)

Functional rehabilitation of upper limb apraxia in poststroke patients: study protocol for a randomized controlled trial.

Science.gov (United States)

Pérez-Mármol, Jose Manuel; García-Ríos, M Carmen; Barrero-Hernandez, Francisco J; Molina-Torres, Guadalupe; Brown, Ted; Aguilar-Ferrándiz, María Encarnación

2015-11-05

Upper limb apraxia is a common disorder associated with stroke that can reduce patients' independence levels in activities of daily living and increase levels of disability. Traditional rehabilitation programs designed to promote the recovery of upper limb function have mainly focused on restorative or compensatory approaches. However, no previous studies have been completed that evaluate a combined intervention method approach, where patients concurrently receive cognitive training and learn compensatory strategies for enhancing daily living activities. This study will use a two-arm, assessor-blinded, parallel, randomized controlled trial design, involving 40 patients who present a left- or right-sided unilateral vascular lesion poststroke and a clinical diagnosis of upper limb apraxia. Participants will be randomized to either a combined functional rehabilitation or a traditional health education group. The experimental group will receive an 8-week combined functional program at home, including physical and occupational therapy focused on restorative and compensatory techniques for upper limb apraxia, 3 days per week in 30-min intervention periods. The control group will receive a conventional health education program once a month over 8 weeks, based on improving awareness of physical and functional limitations and facilitating the adaptation of patients to the home. Study outcomes will be assessed immediately postintervention and at the 2-month follow-up. The primary outcome measure will be basic activities of daily living skills as assessed with the Barthel Index. Secondary outcome measures will include the following: 1) the Lawton and Brody Instrumental Activities of Daily Living Scale, 2) the Observation and Scoring of ADL-Activities, 3) the De Renzi Test for Ideational Apraxia, 4) the De Renzi Test for Ideomotor Apraxia, 5) Recognition of Gestures, 6) the Test of Upper Limb Apraxia (TULIA), and 7) the Quality of Life Scale For Stroke (ECVI-38). This trial is

Focal cortical hypoperfusion in corticobasal degeneration demonstrated by three-dimensional surface display with 123I-IMP: a possible cause of apraxia

International Nuclear Information System (INIS)

Okuda, B.; Tachibana, H.; Takeda, M.; Kawabata, K.; Sugita, M.; Fukuchi, M.

1995-01-01

To clarify cortical lesions responsible for apraxia in corticobasal degeneration (CBD), we reconstructed three-dimensional surface images from single-photon emission computed tomography (SPECT) data with N-isopropyl-p[I-123]-iodoamphetamine in two patients with CBD. Both had limb-kinetic apraxia (LKA) and one also had constructional apraxia (CA). Both showed asymmetrical cortical hypoperfusion in the perirolandic area. The patient with CA had unilateral hypoperfusion in the posterior parietal area. Thus, cortical hypoperfusion in the perirolandic area corresponded to LKA, and that in the posterior parietal area to CA. (orig.). With 4 figs

Prevalence of apraxia among patients with a first left hemisphere stroke in rehabilitation centres and nursing homes.

OpenAIRE

Donkervoort, M.; Dekker, J.; Ende, E. van den; Stehmann-Saris, J.C.; Deelman, B.G.

2000-01-01

OBJECTIVE: To investigate the prevalence of apraxia in patients with a first left hemisphere stroke. SUBJECTS: Left hemisphere stroke patients staying at an inpatient care unit of a rehabilitation centre or nursing home and receiving occupational therapy (n = 600). MEASURES: A short questionnaire on general patient characteristics and stroke-related aspects was completed by occupational therapists for every left hemisphere stroke patient they treated. A diagnosis of apraxia or nonapraxia was ...

Case of Cytomegalovirus Infection Causing Isolated Oculomotor Nerve Palsy

Directory of Open Access Journals (Sweden)

Halil Sen

2014-06-01

Full Text Available The third cranial nerve is called the oculomotor nerve. The pathology is revealed by limitation of eye movement inward-up-down, mydriasis, loss of light reflex and ptosis. Oculomotor nerve pathologies are frequently seen in neurology practice and are situations that may be very difficult for differential diagnosis. Differential diagnosis first involves disqualifying intracranial etiologies by imaging because these intracranial etiologies may be situations that can result in death and should be primarily evaluated. If intracranial events are ruled out, generally rarer etiologic reasons with generally difficult differentiation should be researched. Viral infections are among the rare etiological reasons causing 3rd cranial nerve involvement. Our case was a 71-year old female with etiological research due to 3rd cranial nerve palsy. The patient with diabetes-linked immune deficiency was found to have cranial nerve involvement developed secondary to cytomegalovirus (CMV infection. We report this case as 3rd cranial nerve involvement is rarely observed developing linked to CMV infection.

Apraxia of speech in healthy 36-year-old man.

Science.gov (United States)

Ramos-Estebanez, Ciro; Gokhale, Sankalp; Goddeau, Richard; Kumar, Sandeep

2013-08-01

A 36-year-old healthy man presented with sudden onset speech difficulty. Thorough clinical examination revealed interesting deficits suggestive of apraxia of speech. He was found to have an infarct in his frontal region explaining the deficits. We have undertaken clinical evaluation and differential diagnoses of this condition. Copyright © 2012 Elsevier Ltd. All rights reserved.

Improving ideomotor limb apraxia by electrical stimulation of the left posterior parietal cortex.

Science.gov (United States)

Bolognini, Nadia; Convento, Silvia; Banco, Elisabetta; Mattioli, Flavia; Tesio, Luigi; Vallar, Giuseppe

2015-02-01

Limb apraxia, a deficit of planning voluntary gestures, is most frequently caused by damage to the left hemisphere, where, according to an influential neurofunctional model, gestures are planned, before being executed through the motor cortex of the hemisphere contralateral to the acting hand. We used anodal transcranial direct current stimulation delivered to the left posterior parietal cortex (PPC), the right motor cortex (M1), and a sham stimulation condition, to modulate the ability of six left-brain-damaged patients with ideomotor apraxia, and six healthy control subjects, to imitate hand gestures, and to perform skilled hand movements using the left hand. Transcranial direct current stimulation delivered to the left PPC reduced the time required to perform skilled movements, and planning, but not execution, times in imitating gestures, in both patients and controls. In patients, the amount of decrease of planning times brought about by left PPC transcranial direct current stimulation was influenced by the size of the parietal lobe damage, with a larger parietal damage being associated with a smaller improvement. Of interest from a clinical perspective, left PPC stimulation also ameliorated accuracy in imitating hand gestures in patients. Instead, transcranial direct current stimulation to the right M1 diminished execution, but not planning, times in both patients and healthy controls. In conclusion, by using a transcranial stimulation approach, we temporarily improved ideomotor apraxia in the left hand of left-brain-damaged patients, showing a role of the left PPC in planning gestures. This evidence opens up novel perspectives for the use of transcranial direct current stimulation in the rehabilitation of limb apraxia. © The Author (2014). Published by Oxford University Press on behalf of the Guarantors of Brain. All rights reserved. For Permissions, please email: journals.permissions@oup.com.

The Effects of Feature-Based Priming and Visual Working Memory on Oculomotor Capture.

Directory of Open Access Journals (Sweden)

Jeroen D Silvis

Full Text Available Recently, it has been demonstrated that objects held in working memory can influence rapid oculomotor selection. This has been taken as evidence that perceptual salience can be modified by active working memory representations. The goal of the present study was to examine whether these results could also be caused by feature-based priming. In two experiments, participants were asked to saccade to a target line segment of a certain orientation that was presented together with a to-be-ignored distractor. Both objects were given a task-irrelevant color that varied per trial. In a secondary task, a color had to be memorized, and that color could either match the color of the target, match the color of the distractor, or it did not match the color of any of the objects in the search task. The memory task was completed either after the search task (Experiment 1, or before it (Experiment 2. The results showed that in both experiments the memorized color biased oculomotor selection. Eye movements were more frequently drawn towards objects that matched the memorized color, irrespective of whether the memory task was completed after (Experiment 1 or before (Experiment 2 the search task. This bias was particularly prevalent in short-latency saccades. The results show that early oculomotor selection performance is not only affected by properties that are actively maintained in working memory but also by those previously memorized. Both working memory and feature priming can cause early biases in oculomotor selection.

Encoding, Memory, and Transcoding Deficits in Childhood Apraxia of Speech

Science.gov (United States)

Shriberg, Lawrence D.; Lohmeier, Heather L.; Strand, Edythe A.; Jakielski, Kathy J.

2012-01-01

A central question in Childhood Apraxia of Speech (CAS) is whether the core phenotype is limited to transcoding (planning/programming) deficits or if speakers with CAS also have deficits in auditory-perceptual "encoding" (representational) and/or "memory" (storage and retrieval of representations) processes. We addressed this and other questions…

Phonemic Characteristics of Apraxia of Speech Resulting from Subcortical Hemorrhage

Science.gov (United States)

Peach, Richard K.; Tonkovich, John D.

2004-01-01

Reports describing subcortical apraxia of speech (AOS) have received little consideration in the development of recent speech processing models because the speech characteristics of patients with this diagnosis have not been described precisely. We describe a case of AOS with aphasia secondary to basal ganglia hemorrhage. Speech-language symptoms…

Decoding of intended saccade direction in an oculomotor brain-computer interface

Science.gov (United States)

Jia, Nan; Brincat, Scott L.; Salazar-Gómez, Andrés F.; Panko, Mikhail; Guenther, Frank H.; Miller, Earl K.

2017-08-01

Objective. To date, invasive brain-computer interface (BCI) research has largely focused on replacing lost limb functions using signals from the hand/arm areas of motor cortex. However, the oculomotor system may be better suited to BCI applications involving rapid serial selection from spatial targets, such as choosing from a set of possible words displayed on a computer screen in an augmentative and alternative communication (AAC) application. Here we aimed to demonstrate the feasibility of a BCI utilizing the oculomotor system. Approach. We developed a chronic intracortical BCI in monkeys to decode intended saccadic eye movement direction using activity from multiple frontal cortical areas. Main results. Intended saccade direction could be decoded in real time with high accuracy, particularly at contralateral locations. Accurate decoding was evident even at the beginning of the BCI session; no extensive BCI experience was necessary. High-frequency (80-500 Hz) local field potential magnitude provided the best performance, even over spiking activity, thus simplifying future BCI applications. Most of the information came from the frontal and supplementary eye fields, with relatively little contribution from dorsolateral prefrontal cortex. Significance. Our results support the feasibility of high-accuracy intracortical oculomotor BCIs that require little or no practice to operate and may be ideally suited for ‘point and click’ computer operation as used in most current AAC systems.

Focal cortical hypoperfusion in corticobasal degeneration demonstrated by three-dimensional surface display with {sup 123}I-IMP: a possible cause of apraxia

Energy Technology Data Exchange (ETDEWEB)

Okuda, B. [5. Department of Internal Medicine, Hyogo College of Medicine, Nishinomiya (Japan); Tachibana, H. [5. Department of Internal Medicine, Hyogo College of Medicine, Nishinomiya (Japan); Takeda, M. [5. Department of Internal Medicine, Hyogo College of Medicine, Nishinomiya (Japan); Kawabata, K. [5. Department of Internal Medicine, Hyogo College of Medicine, Nishinomiya (Japan); Sugita, M. [5. Department of Internal Medicine, Hyogo College of Medicine, Nishinomiya (Japan); Fukuchi, M. [Department of Nuclear Medicine, Hyogo College of Medicine, Nishinomiya (Japan)

1995-11-01

To clarify cortical lesions responsible for apraxia in corticobasal degeneration (CBD), we reconstructed three-dimensional surface images from single-photon emission computed tomography (SPECT) data with N-isopropyl-p[I-123]-iodoamphetamine in two patients with CBD. Both had limb-kinetic apraxia (LKA) and one also had constructional apraxia (CA). Both showed asymmetrical cortical hypoperfusion in the perirolandic area. The patient with CA had unilateral hypoperfusion in the posterior parietal area. Thus, cortical hypoperfusion in the perirolandic area corresponded to LKA, and that in the posterior parietal area to CA. (orig.). With 4 figs.

Impaired communication between the dorsal and ventral stream: indications from apraxia

Directory of Open Access Journals (Sweden)

Carys eEvans

2016-02-01

Full Text Available Patients with apraxia perform poorly when demonstrating how an object is used, particularly when pantomiming the action. However, these patients are able to accurately identify, and to pick up and move objects, demonstrating intact ventral and dorsal stream visuomotor processing. Appropriate object manipulation for skilled use is thought to rely on integration of known and visible object properties associated with ‘ventro-dorsal’ stream neural processes. In apraxia, it has been suggested that stored object knowledge from the ventral stream may be less readily available to incorporate into the action plan, leading to an over-reliance on the objects’ visual affordances in object-directed motor behaviour. The current study examined grasping performance in left hemisphere stroke patients with (N = 3 and without (N = 9 apraxia, and in age-matched healthy control participants (N = 14, where participants repeatedly grasped novel cylindrical objects of varying weight distribution. Across two conditions, object weight distribution was indicated by either a memory-associated cue (object colour or visual-spatial cue (visible dot over the weighted end. Participants were required to incorporate object-weight associations to effectively grasp and balance each object. Control groups appropriately adjusted their grasp according to each object’s weight distribution across each condition, whereas throughout the task two of the three apraxic patients performed poorly on both the memory-associated and visual-spatial cue conditions. A third apraxic patient seemed to compensate for these difficulties but still performed differently to control groups. Patients with apraxia performed normally on the neutral control condition when grasping the evenly weighted version. The pattern of behaviour in apraxic patients suggests impaired integration of visible and known object properties attributed to the ventro-dorsal stream: in learning to grasp the weighted object

Phonological Awareness Intervention for Children with Childhood Apraxia of Speech

Science.gov (United States)

Moriarty, Brigid C.; Gillon, Gail T.

2006-01-01

Aims: To investigate the effectiveness of an integrated phonological awareness intervention to improve the speech production, phonological awareness and printed word decoding skills for three children with childhood apraxia of speech (CAS) aged 7;3, 6;3 and 6;10. The three children presented with severely delayed phonological awareness skills…

Self-Administered Computer Therapy for Apraxia of Speech: Two-Period Randomized Control Trial With Crossover.

Science.gov (United States)

Varley, Rosemary; Cowell, Patricia E; Dyson, Lucy; Inglis, Lesley; Roper, Abigail; Whiteside, Sandra P

2016-03-01

There is currently little evidence on effective interventions for poststroke apraxia of speech. We report outcomes of a trial of self-administered computer therapy for apraxia of speech. Effects of speech intervention on naming and repetition of treated and untreated words were compared with those of a visuospatial sham program. The study used a parallel-group, 2-period, crossover design, with participants receiving 2 interventions. Fifty participants with chronic and stable apraxia of speech were randomly allocated to 1 of 2 order conditions: speech-first condition versus sham-first condition. Period 1 design was equivalent to a randomized controlled trial. We report results for this period and profile the effect of the period 2 crossover. Period 1 results revealed significant improvement in naming and repetition only in the speech-first group. The sham-first group displayed improvement in speech production after speech intervention in period 2. Significant improvement of treated words was found in both naming and repetition, with little generalization to structurally similar and dissimilar untreated words. Speech gains were largely maintained after withdrawal of intervention. There was a significant relationship between treatment dose and response. However, average self-administered dose was modest for both groups. Future software design would benefit from incorporation of social and gaming components to boost motivation. Single-word production can be improved in chronic apraxia of speech with behavioral intervention. Self-administered computerized therapy is a promising method for delivering high-intensity speech/language rehabilitation. URL: http://orcid.org/0000-0002-1278-0601. Unique identifier: ISRCTN88245643. © 2016 American Heart Association, Inc.

Error Variability in Apraxia of Speech: A Matter of Controversy

Science.gov (United States)

Staiger, Anja; Finger-Berg, Wolf; Aichert, Ingrid; Ziegler, Wolfram

2012-01-01

Purpose: Error variability has traditionally been considered a hallmark of apraxia of speech (AOS). However, in some of the current AOS literature, relatively invariable error patterns are claimed as a mandatory criterion for a diagnosis of AOS. This paradigm shift has far-reaching consequences for our understanding of the disorder and for its…

Aerodynamic Indices of Velopharyngeal Function in Childhood Apraxia of Speech

Science.gov (United States)

Sealey, Linda R.; Giddens, Cheryl L.

2010-01-01

Childhood apraxia of speech (CAS) is characterized as a deficit in the motor processes of speech for the volitional control of the articulators, including the velum. One of the many characteristics attributed to children with CAS is intermittent or inconsistent hypernasality. The purpose of this study was to document differences in velopharyngeal…

Developmental apraxia of speech in children. Quantitive assessment of speech characteristics

NARCIS (Netherlands)

Thoonen, G.H.J.

1998-01-01

Developmental apraxia of speech (DAS) in children is a speech disorder, supposed to have a neurological origin, which is commonly considered to result from particular deficits in speech processing (i.e., phonological planning, motor programming). However, the label DAS has often been used as

Developmental apraxia of speech : deficits in phonetic planning and motor programming

NARCIS (Netherlands)

Nijland, Lian

2003-01-01

The speech of children with developmental apraxia of speech (DAS) is highly unintelligible due to many nonsystematic sound substitutions and distortions. There is ongoing debate about the underlying deficit of the disorder. The ultimate goal of this thesis was to answer this question within the

Oculomotor deficits in aryl hydrocarbon receptor null mouse.

Directory of Open Access Journals (Sweden)

Aline Chevallier

Full Text Available The Aryl hydrocarbon Receptor or AhR, a ligand-activated transcription factor, is known to mediate the toxic and carcinogenic effects of various environmental pollutants such as 2,3,7,8-Tetrachlorodibenzo-p-dioxin (TCDD. Recent studies in Caenorhabditis elegans and Drosophila melanogaster show that the orthologs of the AhR are expressed exclusively in certain types of neurons and are implicated in the development and the homeostasis of the central nervous system. While physiological roles of the AhR were demonstrated in the mammalian heart, liver and gametogenesis, its ontogenic expression and putative neural functions remain elusive. Here, we report that the constitutive absence of the AhR in adult mice (AhR-/- leads to abnormal eye movements in the form of a spontaneous pendular horizontal nystagmus. To determine if the nystagmus is of vestibular, visual, or cerebellar origin, gaze stabilizing reflexes, namely vestibulo-ocular and optokinetic reflexes (VOR and OKR, were investigated. The OKR is less effective in the AhR-/- mice suggesting a deficit in the visuo-motor circuitry, while the VOR is mildly affected. Furthermore, the AhR is expressed in the retinal ganglion cells during the development, however electroretinograms revealed no impairment of retinal cell function. The structure of the cerebellum of the AhR-/- mice is normal which is compatible with the preserved VOR adaptation, a plastic process dependent on cerebellar integrity. Finally, intoxication with TCDD of control adults did not lead to any abnormality of the oculomotor control. These results demonstrate that the absence of the AhR leads to acquired central nervous system deficits in the adults. Given the many common features between both AhR mouse and human infantile nystagmus syndromes, the AhR-/- mice might give insights into the developmental mechanisms which lead to congenital eye disorders.

Oculomotor Nerve Palsy following Cardiac Tamponade with Churg-Strauss Syndrome: A Case Report

Directory of Open Access Journals (Sweden)

Kazuki Suganuma

2011-10-01

Full Text Available A 57-year-old man with a history of more than 10 years of bronchial asthma and chronic sinusitis complained of double vision which developed 18 days after cardiac tamponade with eosinophil-rich fluid (eosinophils 30%. He had oculomotor nerve palsy, and a blood test revealed eosinophilia (12,700/mm3 and elevation of both C-reactive protein and rheumatoid factor. He was diagnosed as having Churg-Strauss syndrome. His symptoms were relieved by corticosteroid therapy. Our case and previous cases in the literature revealed that oculomotor nerve palsy in Churg-Strauss syndrome is associated with pupil involvement and may be relieved by corticosteroid treatment.

Neurovascular conflict in oculomotor imbalance

Directory of Open Access Journals (Sweden)

Natalya Agafonovna Totolyan

2015-12-01

Full Text Available This article, based on the data of Russian and foreign literature, considers modern approaches to the understanding of neurovascular conflict (NVC term, different causes of its development and realization mechanisms; statistical data are presented on its occurrence in different medical specialties; modern approaches to early diagnosis of neurovascular conflicts are covered. Special attention is drawn to oculomotor imbalances being one of neurovascular conflict manifestations. Based on global experience, approaches to most exact and early diagnosis are described, differences in notion terminology of neurovascular contact and neurovascular conflict are shown. As most effective method for NVC diagnosis, the use of neurovisualization method, that is high-resolution magnetic resonance imaging (MRI (high field MRI, is positioned.

Differential Diagnosis of Children with Suspected Childhood Apraxia of Speech

Science.gov (United States)

Murray, Elizabeth; McCabe, Patricia; Heard, Robert; Ballard, Kirrie J.

2015-01-01

Purpose: The gold standard for diagnosing childhood apraxia of speech (CAS) is expert judgment of perceptual features. The aim of this study was to identify a set of objective measures that differentiate CAS from other speech disorders. Method: Seventy-two children (4-12 years of age) diagnosed with suspected CAS by community speech-language…

Spatial But Not Oculomotor Information Biases Perceptual Memory: Evidence From Face Perception and Cognitive Modeling.

Science.gov (United States)

Wantz, Andrea L; Lobmaier, Janek S; Mast, Fred W; Senn, Walter

2017-08-01

Recent research put forward the hypothesis that eye movements are integrated in memory representations and are reactivated when later recalled. However, "looking back to nothing" during recall might be a consequence of spatial memory retrieval. Here, we aimed at distinguishing between the effect of spatial and oculomotor information on perceptual memory. Participants' task was to judge whether a morph looked rather like the first or second previously presented face. Crucially, faces and morphs were presented in a way that the morph reactivated oculomotor and/or spatial information associated with one of the previously encoded faces. Perceptual face memory was largely influenced by these manipulations. We considered a simple computational model with an excellent match (4.3% error) that expresses these biases as a linear combination of recency, saccade, and location. Surprisingly, saccades did not play a role. The results suggest that spatial and temporal rather than oculomotor information biases perceptual face memory. Copyright © 2016 Cognitive Science Society, Inc.

Measuring Articulatory Error Consistency in Children with Developmental Apraxia of Speech

Science.gov (United States)

Betz, Stacy K.; Stoel-Gammon, Carol

2005-01-01

Error inconsistency is often cited as a characteristic of children with speech disorders, particularly developmental apraxia of speech (DAS); however, few researchers operationally define error inconsistency and the definitions that do exist are not standardized across studies. This study proposes three formulas for measuring various aspects of…

Dystypia: isolated typing impairment without aphasia, apraxia or visuospatial impairment.

Science.gov (United States)

Otsuki, Mika; Soma, Yoshiaki; Arihiro, Shoji; Watanabe, Yoshimasa; Moriwaki, Hiroshi; Naritomi, Hiroaki

2002-01-01

We report a 60-year-old right-handed Japanese man who showed an isolated persistent typing impairment without aphasia, agraphia, apraxia or any other neuropsychological deficit. We coined the term 'dystypia' for this peculiar neuropsychological manifestation. The symptom was caused by an infarction in the left frontal lobe involving the foot of the second frontal convolution and the frontal operculum. The patient's typing impairment was not attributable to a disturbance of the linguistic process, since he had no aphasia or agraphia. The impairment was not attributable to the impairment of the motor execution process either, since he had no apraxia. Thus, his typing impairment was deduced to be based on a disturbance of the intermediate process where the linguistic phonological information is converted into the corresponding performance. We hypothesized that there is a specific process for typing which branches from the motor programming process presented in neurolinguistic models. The foot of the left second frontal convolution and the operculum may play an important role in the manifestation of 'dystypia'. Copyright 2002 S. Karger AG, Basel

A Diagnostic Marker to Discriminate Childhood Apraxia of Speech from Speech Delay: Introduction

Science.gov (United States)

Shriberg, Lawrence D.; Strand, Edythe A.; Fourakis, Marios; Jakielski, Kathy J.; Hall, Sheryl D.; Karlsson, Heather B.; Mabie, Heather L.; McSweeny, Jane L.; Tilkens, Christie M.; Wilson, David L.

2017-01-01

Purpose: The goal of this article is to introduce the pause marker (PM), a single-sign diagnostic marker proposed to discriminate early or persistent childhood apraxia of speech (CAS) from speech delay.

Nelson′s syndrome presenting as bilateral oculomotor palsy

Directory of Open Access Journals (Sweden)

Abhay Gundgurthi

2013-01-01

Full Text Available Nelson′s syndrome refers to a clinical spectrum arising from progressive enlargement of pituitary adenoma and elevated adrenocorticotrophic hormone after total bilateral adrenalectomy for Cushing′s disease comprising of hyperpigmentation, visual field defects which can be life threatening. We report here a 50-year male presenting with rapid onset of Nelson′s syndrome with an unusual finding of bilateral oculomotor palsy mistakenly treated as ocular myasthenia.

Altered resting-state network connectivity in stroke patients with and without apraxia of speech.

Science.gov (United States)

New, Anneliese B; Robin, Donald A; Parkinson, Amy L; Duffy, Joseph R; McNeil, Malcom R; Piguet, Olivier; Hornberger, Michael; Price, Cathy J; Eickhoff, Simon B; Ballard, Kirrie J

2015-01-01

Motor speech disorders, including apraxia of speech (AOS), account for over 50% of the communication disorders following stroke. Given its prevalence and impact, and the need to understand its neural mechanisms, we used resting state functional MRI to examine functional connectivity within a network of regions previously hypothesized as being associated with AOS (bilateral anterior insula (aINS), inferior frontal gyrus (IFG), and ventral premotor cortex (PM)) in a group of 32 left hemisphere stroke patients and 18 healthy, age-matched controls. Two expert clinicians rated severity of AOS, dysarthria and nonverbal oral apraxia of the patients. Fifteen individuals were categorized as AOS and 17 were AOS-absent. Comparison of connectivity in patients with and without AOS demonstrated that AOS patients had reduced connectivity between bilateral PM, and this reduction correlated with the severity of AOS impairment. In addition, AOS patients had negative connectivity between the left PM and right aINS and this effect decreased with increasing severity of non-verbal oral apraxia. These results highlight left PM involvement in AOS, begin to differentiate its neural mechanisms from those of other motor impairments following stroke, and help inform us of the neural mechanisms driving differences in speech motor planning and programming impairment following stroke.

Altered resting-state network connectivity in stroke patients with and without apraxia of speech

Directory of Open Access Journals (Sweden)

Anneliese B. New

2015-01-01

Full Text Available Motor speech disorders, including apraxia of speech (AOS, account for over 50% of the communication disorders following stroke. Given its prevalence and impact, and the need to understand its neural mechanisms, we used resting state functional MRI to examine functional connectivity within a network of regions previously hypothesized as being associated with AOS (bilateral anterior insula (aINS, inferior frontal gyrus (IFG, and ventral premotor cortex (PM in a group of 32 left hemisphere stroke patients and 18 healthy, age-matched controls. Two expert clinicians rated severity of AOS, dysarthria and nonverbal oral apraxia of the patients. Fifteen individuals were categorized as AOS and 17 were AOS-absent. Comparison of connectivity in patients with and without AOS demonstrated that AOS patients had reduced connectivity between bilateral PM, and this reduction correlated with the severity of AOS impairment. In addition, AOS patients had negative connectivity between the left PM and right aINS and this effect decreased with increasing severity of non-verbal oral apraxia. These results highlight left PM involvement in AOS, begin to differentiate its neural mechanisms from those of other motor impairments following stroke, and help inform us of the neural mechanisms driving differences in speech motor planning and programming impairment following stroke.

Intervention for Childhood Apraxia of Speech: A Single-Case Study

Science.gov (United States)

Martikainen, Anna-Leena; Korpilahti, Pirjo

2011-01-01

The underlying nature and diagnosis of childhood apraxia of speech (CAS) still requires clarification. However, the label "CAS" or "suspected CAS" continues to be assigned to a group of children with speech problems, and speech and language therapists need to be aware of effective treatment for these children. The aim of this study was to assess…

Non-verbal communication in severe aphasia: influence of aphasia, apraxia, or semantic processing?

Science.gov (United States)

Hogrefe, Katharina; Ziegler, Wolfram; Weidinger, Nicole; Goldenberg, Georg

2012-09-01

Patients suffering from severe aphasia have to rely on non-verbal means of communication to convey a message. However, to date it is not clear which patients are able to do so. Clinical experience indicates that some patients use non-verbal communication strategies like gesturing very efficiently whereas others fail to transmit semantic content by non-verbal means. Concerns have been expressed that limb apraxia would affect the production of communicative gestures. Research investigating if and how apraxia influences the production of communicative gestures, led to contradictory outcomes. The purpose of this study was to investigate the impact of limb apraxia on spontaneous gesturing. Further, linguistic and non-verbal semantic processing abilities were explored as potential factors that might influence non-verbal expression in aphasic patients. Twenty-four aphasic patients with highly limited verbal output were asked to retell short video-clips. The narrations were videotaped. Gestural communication was analyzed in two ways. In the first part of the study, we used a form-based approach. Physiological and kinetic aspects of hand movements were transcribed with a notation system for sign languages. We determined the formal diversity of the hand gestures as an indicator of potential richness of the transmitted information. In the second part of the study, comprehensibility of the patients' gestural communication was evaluated by naive raters. The raters were familiarized with the model video-clips and shown the recordings of the patients' retelling without sound. They were asked to indicate, for each narration, which story was being told and which aspects of the stories they recognized. The results indicate that non-verbal faculties are the most important prerequisites for the production of hand gestures. Whereas results on standardized aphasia testing did not correlate with any gestural indices, non-verbal semantic processing abilities predicted the formal diversity

Acquired apraxia of speech: a review.

Science.gov (United States)

Knollman-Porter, Kelly

2008-01-01

Apraxia of speech (AOS) is an acquired adult neurogenic communication disorder that often occurs following stroke. The purpose of this article is to review current research studies addressing the diagnostic and therapeutic management of AOS. Traditional definitions and characteristics are compared with current features that assist in the differential diagnosis of AOS. Prognostic indicators are reviewed in addition to how neuroplasticity may impact treatment in chronic AOS. Treatment techniques discussed include the articulatory kinematic approach (AKA), use of augmentative/alternative communication devices, intersystemic facilitation/reorganization, and constraint-induced therapy. Finally, the need to address functional communication through support groups, outside the therapeutic environment, is discussed.

Vowel Patterns in Developmental Apraxia of Speech: Three Longitudinal Case Studies

Science.gov (United States)

Davis, Barbara L.; Jacks, Adam; Marquardt, Thomas P.

2005-01-01

Vowel inventories and error patterns for three children with suspected developmental apraxia of speech (DAS) were analysed over a 3-year period using phonetic transcriptions of connected speech samples. The children demonstrated complete English vowel inventories except for rhotics. However, accuracy of vowel targets in connected speech did not…

Dural carotid cavernous sinus fistula presenting as isolated oculomotor nerve palsy: Case report

Directory of Open Access Journals (Sweden)

Şehnaz Arıcı

2015-04-01

Full Text Available Indirect (dural carotid cavernous fistula is formed by the connection between meningeal branches of the internal carotid artery and the cavernous sinüs, and low flow circulation with low pressure is occured. Proptosis, ophtalmoplegia, headache, scleral and conjuctival hyperemia expanding around the eyeball can be observed. A forty-eight year old female patient with a background of diabetes mellitus and hypertension was admitted with complaints of double vision. Isolated oculomotor nerve palsy was found in neurological examination and an indirect carotid cavernous fistula was revealed by digital subtraction angiography. Our case with carotid cavernous fistula as a rare cause of isolated oculomotor nerve palsy is worth to be reported.

A case of crossed aphasia with apraxia of speech

Directory of Open Access Journals (Sweden)

Yogesh Patidar

2013-01-01

Full Text Available Apraxia of speech (AOS is a rare, but well-defined motor speech disorder. It is characterized by irregular articulatory errors, attempts of self-correction and persistent prosodic abnormalities. Similar to aphasia, AOS is also localized to the dominant cerebral hemisphere. We report a case of Crossed Aphasia with AOS in a 48-year-old right-handed man due to an ischemic infarct in right cerebral hemisphere.

The influence of age, gender and education on the performance of healthy individuals on a battery for assessing limb apraxia

Directory of Open Access Journals (Sweden)

Joana Mantovani-Nagaoka

Full Text Available ABSTRACT Introduction: Apraxia is defined as a disorder of learned skilled movements, in the absence of elementary motor or sensory deficits and general cognitive impairment, such as inattention to commands, object-recognition deficits or poor oral comprehension. Limb apraxia has long been a challenge for clinical assessment and understanding and covers a wide spectrum of disorders, all involving motor cognition and the inability to perform previously learned actions. Demographic variables such as gender, age, and education can influence the performance of individuals on different neuropsychological tests. Objective: The present study aimed to evaluate the performance of healthy subjects on a limb apraxia battery and to determine the influence of gender, age, and education on the praxis skills assessed. Methods: Forty-four subjects underwent a limb apraxia battery, which was composed of numerous subtests for assessing both the semantic aspects of gestural production as well as motor performance itself. The tasks encompassed lexical-semantic aspects related to gestural production and motor activity in response to verbal commands and imitation. Results: We observed no gender effects on any of the subtests. Only the subtest involving visual recognition of transitive gestures showed a correlation between performance and age. However, we observed that education level influenced subject performance for all sub tests involving motor actions, and for most of these, moderate correlations were observed between education level and performance of the praxis tasks. Conclusion: We conclude that the education level of participants can have an important influence on the outcome of limb apraxia tests.

Speech Intelligibility and Childhood Verbal Apraxia in Children with Down Syndrome

Science.gov (United States)

Kumin, Libby

2006-01-01

Many children with Down syndrome have difficulty with speech intelligibility. The present study used a parent survey to learn more about a specific factor that affects speech intelligibility, i.e. childhood verbal apraxia. One of the factors that affects speech intelligibility for children with Down syndrome is difficulty with voluntarily…

Transfer effects of a cognitive strategy training for stroke patients with apraxia

NARCIS (Netherlands)

Geusgens, C. A. V.; van Heugten, C. M.; Cooijmans, J. P. J.; Jolles, J.; van den Heuvel, W. J. A.

2007-01-01

The objective of this study was to evaluate transfer effects of cognitive strategy training for stroke patients with apraxia. During 8 weeks, 29 apraxic patients received cognitive strategy training to teach them how to perform activities of daily living (ADL) as independently as possible. ADL

Random versus Blocked Practice in Treatment for Childhood Apraxia of Speech

Science.gov (United States)

Maas, Edwin; Farinella, Kimberly A.

2012-01-01

Purpose: To compare the relative effects of random vs. blocked practice schedules in treatment for childhood apraxia of speech (CAS). Although there have been repeated suggestions in the literature to use random practice in CAS treatment, no systematic studies exist that have directly compared random with blocked practice in this population.…

Diagnosing Apraxia of Speech on the Basis of Eight Distinctive Signs

NARCIS (Netherlands)

Jonkers, Roel; Feiken, J.; Stuive, Ilse

2017-01-01

This paper reports the results of a study on the use of a fixed number of specific signs to differentially diagnose Apraxia of Speech (AoS) from aphasia or dysarthria. This was done with a diagnostic instrument for AoS that was developed in the Netherlands in 2012, the Diagnostic Instrument for

Phonological Awareness and Early Reading Development in Childhood Apraxia of Speech (CAS)

Science.gov (United States)

McNeill, B. C.; Gillon, G. T.; Dodd, B.

2009-01-01

Background: Childhood apraxia of speech (CAS) is associated with phonological awareness, reading, and spelling deficits. Comparing literacy skills in CAS with other developmental speech disorders is critical for understanding the complexity of the disorder. Aims: This study compared the phonological awareness and reading development of children…

Apraxia of tool use: more evidence for the technical reasoning hypothesis.

Science.gov (United States)

Jarry, Christophe; Osiurak, François; Delafuys, David; Chauviré, Valérie; Etcharry-Bouyx, Frédérique; Le Gall, Didier

2013-10-01

Various distinct cognitive processes such as semantic memory, executive planning or technical reasoning have been shown to support tool use. The aim of this study is to investigate the relationship between these processes. To do so, a large apraxia battery was submitted to 16 patients with left brain-damage (LBD) and aphasia and 19 healthy controls. The battery included: classical apraxia tests (Pantomime of Tool Use and Single Tool Use), familiar and novel tool use tests (Tool-Object Pairs and Sequential Mechanical Problem-Solving), semantic memory tests (Recognition of tool utilization gestures and Functional and Categorical Associations) as well as the Tower Of London. The Sequential Mechanical Problem-Solving task is a new task which permits the evaluation of pre-planning in unusual tool use situations. In this task as well as in the Tool-Object Pairs task, participants solved a tool use problem in a Choice and a No-Choice condition to examine the effect of tool selection. Globally, left brain damaged patients were impaired as compared to controls. We found high correlations in left brain damaged patients between performances on classical apraxia tests, familiar and novel tool use tests and Functional and Categorical Associations but no significant association between these performances and Tower Of London or Recognition of tool utilization gestures. Furthermore, the two conditions (Choice and No-Choice) of Tool-Object Pairs and Sequential Mechanical Problem-Solving were associated. In sum, all tasks involving tool use are strongly associated in LBD patients. Moreover, the ability to solve sequential mechanical problems does not depend on executive planning. Also, tool use appears to be associated with knowledge about object function but not with knowledge about tool manipulation. Taken together, these findings indicate that technical reasoning and, to a lesser extent, semantic memory may both play an important role in tool use. Copyright © 2013 Elsevier Ltd

The fate of the oculomotor system in clinical bilateral anophthalmia.

Science.gov (United States)

Bridge, Holly; Ragge, Nicola; Jenkinson, Ned; Cowey, Alan; Watkins, Kate E

2012-05-01

The interdependence of the development of the eye and oculomotor system during embryogenesis is currently unclear. The occurrence of clinical anophthalmia, where the globe fails to develop, permits us to study the effects this has on the development of the complex neuromuscular system controlling eye movements. In this study, we use very high-resolution T2-weighted imaging in five anophthalmic subjects to visualize the extraocular muscles and the cranial nerves that innervate them. The subjects differed in the presence or absence of the optic nerve, the abducens nerve, and the extraocular muscles, reflecting differences in the underlying disruption to the eye's morphogenetic pathway. The oculomotor nerve was present in all anophthalmic subjects and only slightly reduced in size compared to measurements in sighted controls. As might be expected, the presence of rudimentary eye-like structures in the socket appeared to correlate with development and persistence of the extraocular muscles in some cases. Our study supports in part the concept of an initial independence of muscle development, with its maintenance subject to the presence of these eye-like structures.

Progressive Apraxia of Speech as a Sign of Motor Neuron Disease

Science.gov (United States)

Duffy, Joseph R.; Peach, Richard K.; Strand, Edythe A.

2007-01-01

Purpose: To document and describe in detail the occurrence of apraxia of speech (AOS) in a group of individuals with a diagnosis of motor neuron disease (MND). Method: Seven individuals with MND and AOS were identified from among 80 patients with a variety of neurodegenerative diseases and AOS (J. R. Duffy, 2006). The history, presenting…

[Ataxia telangiectasia: review of 13 new cases].

Science.gov (United States)

Valbuena, O; Póo, P; Campistol, J; Vernet, A; Fernández-Alvarez, E; Sierra, I; Gean, E

1996-01-01

We report the review of 13 patients who were diagnosed of ataxia telangiectasia before 6 years of age. All of them manifested cerebelous ataxia, oculocutaneus telangiectasias (11), sinopulmonary infections (9), dystonia (9), oculomotor apraxia (9) and Burkitt linfoma (1). We analyse the most common presentation of the disease in early stages and the complementary studies performed. The prompt diagnosis allow us a better control of infections, malignant process and finally the possibility of genetic counseling.

Oculomotor Cognitive Control Abnormalities in Australian Rules Football Players with a History of Concussion.

Science.gov (United States)

Clough, Meaghan; Mutimer, Steven; Wright, David K; Tsang, Adrian; Costello, Daniel M; Gardner, Andrew J; Stanwell, Peter; Mychasiuk, Richelle; Sun, Mujun; Brady, Rhys D; McDonald, Stuart J; Webster, Kyria M; Johnstone, Maddison R; Semple, Bridgette D; Agoston, Denes V; White, Owen B; Frayne, Richard; Fielding, Joanne; O'Brien, Terence J; Shultz, Sandy R

2018-03-01

This study used oculomotor, cognitive, and multi-modal magnetic resonance imaging (MRI) measures to assess for neurological abnormalities in current asymptomatic amateur Australian rules footballers (i.e., Australia's most participated collision sport) with a history of sports-related concussion (SRC). Participants were 15 male amateur Australian rules football players with a history of SRC greater than 6 months previously, and 15 sex-, age-, and education-matched athlete control subjects that had no history of neurotrauma or participation in collision sports. Participants completed a clinical interview, neuropsychological measures, and oculomotor measures of cognitive control. MRI investigation involved structural imaging, as well as diffusion tensor imaging and resting-state functional MRI sequences. Despite no group differences on conventional neuropsychological tests and multi-modal MRI measures, Australian rules football players with a history of SRC performed significantly worse on an oculomotor switch task: a measure of cognitive control that interleaves the response of looking towards a target (i.e., a prosaccade) with the response of looking away from a target (i.e., an antisaccade). Specifically, Australian footballers performed significantly shorter latency prosaccades and found changing from an antisaccade trial to a prosaccade trial (switch cost) significantly more difficult than control subjects. Poorer switch cost was related to poorer performance on a number of neuropsychological measures of inhibitory control. Further, when comparing performance on the cognitively more demanding switch task with performance on simpler, antisaccade/prosaccades tasks which require a single response, Australian footballers demonstrated a susceptibility to increased cognitive load, compared to the control group who were unaffected. These initial results suggest that current asymptomatic amateur Australian rules football players with a history of SRC may have persisting

A Diagnostic Marker to Discriminate Childhood Apraxia of Speech from Speech Delay: III. Theoretical Coherence of the Pause Marker with Speech Processing Deficits in Childhood Apraxia of Speech

Science.gov (United States)

Shriberg, Lawrence D.; Strand, Edythe A.; Fourakis, Marios; Jakielski, Kathy J.; Hall, Sheryl D.; Karlsson, Heather B.; Mabie, Heather L.; McSweeny, Jane L.; Tilkens, Christie M.; Wilson, David L.

2017-01-01

Purpose: Previous articles in this supplement described rationale for and development of the pause marker (PM), a diagnostic marker of childhood apraxia of speech (CAS), and studies supporting its validity and reliability. The present article assesses the theoretical coherence of the PM with speech processing deficits in CAS. Method: PM and other…

Toward a Quantitative Basis for Assessment and Diagnosis of Apraxia of Speech

Science.gov (United States)

Haley, Katarina L.; Jacks, Adam; de Riesthal, Michael; Abou-Khalil, Rima; Roth, Heidi L.

2012-01-01

Purpose: We explored the reliability and validity of 2 quantitative approaches to document presence and severity of speech properties associated with apraxia of speech (AOS). Method: A motor speech evaluation was administered to 39 individuals with aphasia. Audio-recordings of the evaluation were presented to 3 experienced clinicians to determine…

Prevalence and Phenotype of Childhood Apraxia of Speech in Youth with Galactosemia

Science.gov (United States)

Shriberg, Lawrence D.; Potter, Nancy L.; Strand, Edythe A.

2011-01-01

Purpose: In this article, the authors address the hypothesis that the severe and persistent speech disorder reported in persons with galactosemia meets contemporary diagnostic criteria for Childhood Apraxia of Speech (CAS). A positive finding for CAS in this rare metabolic disorder has the potential to impact treatment of persons with galactosemia…

[Efficacy observation on electroacupuncture in the treatment of oculomotor impairment caused by ophthalmic nerve injury].

Science.gov (United States)

Ji, Xiao-Jie; Zhou, Ling-Yun; Si, Cheng-Qing; Guo, Qing; Feng, Guang-Zhong; Gang, Bao-Zhi

2013-11-01

To observe the difference in the clinical efficacy on oculomotor impairment between electroacupuncture and acupuncture and explore the best therapeutic method in the treatment of this disease. Sixty cases of oculomotor impairment were randomized into an electroacupuncture group and an acupuncture group, 30 cases in each one. In the electroacupuncture group, the points were selected on extraocular muscles, the internal needling technique in the eye was used in combination of electroacupuncture therapy. In the acupuncture group, the points and needling technique were same as the electroacupuncture group, but without electric stimulation applied. The treatment was given 5 times a week, 15 treatments made one session. After 3 sessions of treatment, the clinical efficacy, palpebral fissure size, pupil size, oculomotor range and the recovery in diplopia were compared before and after treatment in the two groups. In the electroacupuncture group, the palpebral fissure size was (9.79+/-2.65)mm and the eyeball shifting distance was (18.12+/-1. 30)mm, which were hig-her than (8.23+/-2.74)mm and (16.71+/-1. 44)mm respectively in the acupuncture group. In the electroacupuncture group, the pupil diameter was (0. 44 +/-0. 42)mm, which was less than (0. 72 +/- 0. 53)mm in the acupuncture group, indicating the significant difference (all Pelectroacupuncture group, which was better than 36.67% (11/30) and 83. 333 (25/30) in the acupuncture group separately, indicating the significant difference (all PElectroacupuncture presents the obvious advantages in the treatment of oculomotor impairment, characterized as quick and high effect, short duration of treatment and remarkable improvements in clinical symptoms, there are important significance for the improvement of survival quality of patients.

More than meets the eye:age differences in the capture and suppression of oculomotor action

Directory of Open Access Journals (Sweden)

K. Richard eRidderinkhof

2011-10-01

Full Text Available Salient visual stimuli capture attention and trigger an eye-movement towards its location reflexively, regardless of an observer’s intentions. Here we investigate the effect of aging 1 on the extent to which salient yet task-irrelevant stimuli capture saccades, and 2 on the ability to selectively suppress such oculomotor responses. Young and older adults were asked to direct their eyes to a target appearing in a stimulus array. Analysis of overall performance shows that saccades to the target object were disrupted by the appearance of a task-irrelevant abrupt-onset distractor when the location of this distractor did not coincide with that of the target object. Conditional Capture Function analyses revealed that, compared to young adults, older adults were more susceptible to oculomotor capture, and exhibited deficient selective suppression of the responses captured by task-irrelevant distractors. These effects were uncorrelated, suggesting two independent sources off age-related decline. The fact that these process-specific age effects remained concealed in overall oculomotor performance analyses emphasizes the utility of looking beyond the surface; indeed, there may be more than meets the eye.

Apraxia and spatial inattention dissociate in left hemisphere stroke.

Science.gov (United States)

Timpert, David C; Weiss, Peter H; Vossel, Simone; Dovern, Anna; Fink, Gereon R

2015-10-01

Theories of lateralized cognitive functions propose a dominance of the left hemisphere for motor control and of the right hemisphere for spatial attention. Accordingly, spatial attention deficits (e.g., neglect) are more frequently observed after right-hemispheric stroke, whereas apraxia is a common consequence of left-hemispheric stroke. Clinical reports of spatial attentional deficits after left hemisphere (LH) stroke also exist, but are often neglected. By applying parallel analysis (PA) and voxel-based lesion-symptom mapping (VLSM) to data from a comprehensive neuropsychological assessment of 74 LH stroke patients, we here systematically investigate the relationship between spatial inattention and apraxia and their neural bases. PA revealed that apraxic (and language comprehension) deficits loaded on one common component, while deficits in attention tests were explained by another independent component. Statistical lesion analyses with the individual component scores showed that apraxic (and language comprehension) deficits were significantly associated with lesions of the left superior longitudinal fascicle (SLF). Data suggest that in LH stroke spatial attention deficits dissociate from apraxic (and language comprehension) deficits. These findings contribute to models of lateralised cognitive functions in the human brain. Moreover, our findings strongly suggest that LH stroke patients should be assessed systematically for spatial attention deficits so that these can be included in their rehabilitation regime. Copyright © 2015 Elsevier Ltd. All rights reserved.

Computational neural modeling of speech motor control in childhood apraxia of speech (CAS).

NARCIS (Netherlands)

Terband, H.R.; Maassen, B.A.M.; Guenther, F.H.; Brumberg, J.

2009-01-01

PURPOSE: Childhood apraxia of speech (CAS) has been associated with a wide variety of diagnostic descriptions and has been shown to involve different symptoms during successive stages of development. In the present study, the authors attempted to associate the symptoms of CAS in a particular

Visuomotor Tracking Abilities of Speakers with Apraxia of Speech or Conduction Aphasia

Science.gov (United States)

Robin, Donald A.; Jacks, Adam; Hageman, Carlin; Clark, Heather M.; Woodworth, George

2008-01-01

This investigation examined the visuomotor tracking abilities of persons with apraxia of speech (AOS) or conduction aphasia (CA). In addition, tracking performance was correlated with perceptual judgments of speech accuracy. Five individuals with AOS and four with CA served as participants, as well as an equal number of healthy controls matched by…

The Importance of Production Frequency in Therapy for Childhood Apraxia of Speech

Science.gov (United States)

Edeal, Denice Michelle; Gildersleeve-Neumann, Christina Elke

2011-01-01

Purpose: This study explores the importance of production frequency during speech therapy to determine whether more practice of speech targets leads to increased performance within a treatment session, as well as to motor learning, in the form of generalization to untrained words. Method: Two children with childhood apraxia of speech were treated…

A Multivariate Analytic Approach to the Differential Diagnosis of Apraxia of Speech

Science.gov (United States)

Basilakos, Alexandra; Yourganov, Grigori; den Ouden, Dirk-Bart; Fogerty, Daniel; Rorden, Chris; Feenaughty, Lynda; Fridriksson, Julius

2017-01-01

Purpose: Apraxia of speech (AOS) is a consequence of stroke that frequently co-occurs with aphasia. Its study is limited by difficulties with its perceptual evaluation and dissociation from co-occurring impairments. This study examined the classification accuracy of several acoustic measures for the differential diagnosis of AOS in a sample of…

Recovering With Acquired Apraxia of Speech: The First 2 Years.

Science.gov (United States)

Haley, Katarina L; Shafer, Jennifer N; Harmon, Tyson G; Jacks, Adam

2016-12-01

This study was intended to document speech recovery for 1 person with acquired apraxia of speech quantitatively and on the basis of her lived experience. The second author sustained a traumatic brain injury that resulted in acquired apraxia of speech. Over a 2-year period, she documented her recovery through 22 video-recorded monologues. We analyzed these monologues using a combination of auditory perceptual, acoustic, and qualitative methods. Recovery was evident for all quantitative variables examined. For speech sound production, the recovery was most prominent during the first 3 months, but slower improvement was evident for many months. Measures of speaking rate, fluency, and prosody changed more gradually throughout the entire period. A qualitative analysis of topics addressed in the monologues was consistent with the quantitative speech recovery and indicated a subjective dynamic relationship between accuracy and rate, an observation that several factors made speech sound production variable, and a persisting need for cognitive effort while speaking. Speech features improved over an extended time, but the recovery trajectories differed, indicating dynamic reorganization of the underlying speech production system. The relationship among speech dimensions should be examined in other cases and in population samples. The combination of quantitative and qualitative analysis methods offers advantages for understanding clinically relevant aspects of recovery.

The Hypothesis of Apraxia of Speech in Children with Autism Spectrum Disorder

Science.gov (United States)

Shriberg, Lawrence D.; Paul, Rhea; Black, Lois M.; van Santen, Jan P.

2011-01-01

In a sample of 46 children aged 4-7 years with Autism Spectrum Disorder (ASD) and intelligible speech, there was no statistical support for the hypothesis of concomitant Childhood Apraxia of Speech (CAS). Perceptual and acoustic measures of participants' speech, prosody, and voice were compared with data from 40 typically-developing children, 13…

Computational Neural Modeling of Speech Motor Control in Childhood Apraxia of Speech (CAS)

Science.gov (United States)

Terband, Hayo; Maassen, Ben; Guenther, Frank H.; Brumberg, Jonathan

2009-01-01

Purpose: Childhood apraxia of speech (CAS) has been associated with a wide variety of diagnostic descriptions and has been shown to involve different symptoms during successive stages of development. In the present study, the authors attempted to associate the symptoms of CAS in a particular developmental stage with particular…

The Parent Experience: When a Child Is Diagnosed with Childhood Apraxia of Speech

Science.gov (United States)

Miron, Colleen

2012-01-01

The purpose of this study was to explore the parent adaptation process for parents of children with childhood apraxia of speech (CAS). Professionals widely recognize the importance of parental involvement in achieving successful outcomes for children with disabilities, however, few studies have explored parents' views and perspectives, in…

Articulatory Control in Childhood Apraxia of Speech in a Novel Word-Learning Task

Science.gov (United States)

Case, Julie; Grigos, Maria I.

2016-01-01

Purpose: Articulatory control and speech production accuracy were examined in children with childhood apraxia of speech (CAS) and typically developing (TD) controls within a novel word-learning task to better understand the influence of planning and programming deficits in the production of unfamiliar words. Method: Participants included 16…

Assistive system for people with Apraxia using a Markov decision process.

Science.gov (United States)

Jean-Baptiste, Emilie M D; Russell, Martin; Rothstein, Pia

2014-01-01

CogWatch is an assistive system to re-train stroke survivors suffering from Apraxia or Action Disorganization Syndrome (AADS) to complete activities of daily living (ADLs). This paper describes the approach to real-time planning based on a Markov Decision Process (MDP), and demonstrates its ability to improve task's performance via user simulation. The paper concludes with a discussion of the remaining challenges and future enhancements.

Combined Ipsilateral Oculomotor Nerve Palsy and Contralateral Downbeat Nystagmus in a Case of Cerebral Infarction

Directory of Open Access Journals (Sweden)

Kosuke Matsuzono

2014-04-01

Full Text Available We report a patient with acute cerebral infarction of the left paramedian thalamus, upper mesencephalon and cerebellum who exhibited ipsilateral oculomotor nerve palsy and contralateral downbeat nystagmus. The site of the infarction was considered to be the paramedian thalamopeduncular and cerebellar regions, which are supplied by the superior cerebellar artery containing direct perforating branches or both the superior cerebellar artery and the superior mesencephalic and posterior thalamosubthalamic arteries. Contralateral and monocular downbeat nystagmus is very rare. Our case suggests that the present downbeat nystagmus was due to dysfunction of cerebellar-modulated crossed oculovestibular fibers of the superior cerebellar peduncle or bilateral downbeat nystagmus with one-sided oculomotor nerve palsy.

Right lower limb apraxia in a patient with left supplementary motor area infarction: intactness of the corticospinal tract confirmed by transcranial magnetic stimulation

Directory of Open Access Journals (Sweden)

Min Cheol Chang

2015-01-01

Full Text Available We reported a 50-year-old female patient with left supplementary motor area infarction who presented right lower limb apraxia and investigated the possible causes using transcranial magnetic stimulation. The patient was able to walk and climb stairs spontaneously without any assistance at 3 weeks after onset. However, she was unable to intentionally move her right lower limb although she understood what she supposed to do. The motor evoked potential evoked by transcranial magnetic stimulation from the right lower limb was within the normal range, indicating that the corticospinal tract innervating the right lower limb was uninjured. Thus, we thought that her motor dysfunction was not induced by motor weakness, and confirmed her symptoms as apraxia. In addition, these results also suggest that transcranial magnetic stimulation is helpful for diagnosing apraxia.

A diagnostic test for apraxia in stroke patients: internal consistency and diagnostic value.

NARCIS (Netherlands)

Heugten, C.M. van; Dekker, J.; Deelman, B.G.; Stehmann-Saris, F.C.; Kinebanian, A.

1999-01-01

The internal consistency and the diagnostic value of a test for apraxia in patients having had a stroke are presented. Results indicate that the items of the test form a strong and consistent scale: Cronbach's alpha as well as the results of a Mokken scale analysis present good reliability and good

Oculomotor and Vestibular Findings in Gaucher Disease Type 3 and Their Correlation with Neurological Findings

Directory of Open Access Journals (Sweden)

Tatiana Bremova-Ertl

2018-01-01

Full Text Available ObjectivesTo evaluate the function of the oculomotor and vestibular systems and to correlate these findings with the clinical status of patients with Gaucher disease type 3 (GD3. The goal of this cross-sectional and longitudinal study was to find oculomotor biomarkers for future clinical trials.MethodsTwenty-six patients with GD3 were assessed for eligibility and 21 were able to perform at least one task. Horizontal and vertical reflexive saccades, smooth pursuit, gaze-holding, optokinetic nystagmus, and horizontal vestibulo-ocular reflex (VOR were examined by video-oculography/video-head impulse test and compared concurrently with 33 healthy controls. The Scale for the Assessment and Rating of Ataxia (SARA, the modified Severity Scoring Tool (mSST, and Grooved Pegboard Test (GPT were administered to assess overall neurological function. Eleven patients were also re-assessed after 1 year.ResultsNine out of 17 patients exhibited gaze-holding deficits. One patient had upbeat nystagmus. Three patients presented with bilateral abducens palsy in combination with central oculomotor disorders, suggesting a bilateral involvement of the abducens nucleus. Horizontal angular VOR gain was reduced in all patients (0.66 ± 0.37 compared with controls (1.1 ± 0.11, p < 0.001. Most strongly correlated with clinical rating scales were peak velocity of downward saccades (SARA: ρ = −0.752, p < 0.0005; mSST: ρ = −0.611, p = 0.003; GPT: ρ = −0.649, p = 0.005 and duration of vertical saccades (SARA: ρ = 0.806, p < 0.001; mSST: ρ = 0.700, p < 0.0005; GPT: ρ = 0.558, p = 0.02 together with the VOR gain (SARA: ρ = −0.63, p = 0.016; mSST: ρ = −0.725, p = 0.003; GPT: ρ = −0.666, p = 0.004. Vertical smooth pursuit gain decreased significantly at follow-up.InterpretationThis study shows neuronal degeneration of the brainstem and cerebellum with combined involvement of

Assessment of disabilities in stroke patients with apraxia : Internal consistency and inter-observer reliability

NARCIS (Netherlands)

van Heugten, CM; Dekker, J; Deelman, BG; Stehmann-Saris, JC; Kinebanian, A

1999-01-01

In this paper the internal consistency and inter-observer reliability of the assessment of disabilities in stroke patients with apraxia is presented. Disabilities were assessed by means of observation of activities of daily living (ADL). The study was conducted at occupational therapy departments in

Assessment of disabilities in stroke patients with apraxia: internal consistency and inter-observer reliability.

NARCIS (Netherlands)

Heugten, C.M. van; Dekker, J.; Deelman, B.G.; Stehmann-Saris, J.C.; Kinebanian, A.

1999-01-01

In this paper the internal consistency and inter-observer reliability of the assessment of disabilities in stroke patients with apraxia is presented. Disabilities were assessed by means of observation of activities of daily living (ADL). The study was conducted at occupational therapy departments in

Evidence for a dissociation between the control of oculomotor capture and disengagement

NARCIS (Netherlands)

Born, S.A.; Kerzel, D.; Theeuwes, J.

2011-01-01

The current study investigated whether capture of the eyes by a salient onset distractor and the disengagement of the eyes from that distractor are driven by the same or by different underlying control modes. A variant of the classic oculomotor capture task was used. Observers had to make a saccade

Continuous Auditory Feedback of Eye Movements: An Exploratory Study toward Improving Oculomotor Control

Directory of Open Access Journals (Sweden)

Eric O. Boyer

2017-04-01

Full Text Available As eye movements are mostly automatic and overtly generated to attain visual goals, individuals have a poor metacognitive knowledge of their own eye movements. We present an exploratory study on the effects of real-time continuous auditory feedback generated by eye movements. We considered both a tracking task and a production task where smooth pursuit eye movements (SPEM can be endogenously generated. In particular, we used a visual paradigm which enables to generate and control SPEM in the absence of a moving visual target. We investigated whether real-time auditory feedback of eye movement dynamics might improve learning in both tasks, through a training protocol over 8 days. The results indicate that real-time sonification of eye movements can actually modify the oculomotor behavior, and reinforce intrinsic oculomotor perception. Nevertheless, large inter-individual differences were observed preventing us from reaching a strong conclusion on sensorimotor learning improvements.

Bridging the Gap Between Speech and Language: Using Multimodal Treatment in a Child With Apraxia.

Science.gov (United States)

Tierney, Cheryl D; Pitterle, Kathleen; Kurtz, Marie; Nakhla, Mark; Todorow, Carlyn

2016-09-01

Childhood apraxia of speech is a neurologic speech sound disorder in which children have difficulty constructing words and sounds due to poor motor planning and coordination of the articulators required for speech sound production. We report the case of a 3-year-old boy strongly suspected to have childhood apraxia of speech at 18 months of age who used multimodal communication to facilitate language development throughout his work with a speech language pathologist. In 18 months of an intensive structured program, he exhibited atypical rapid improvement, progressing from having no intelligible speech to achieving age-appropriate articulation. We suspect that early introduction of sign language by family proved to be a highly effective form of language development, that when coupled with intensive oro-motor and speech sound therapy, resulted in rapid resolution of symptoms. Copyright © 2016 by the American Academy of Pediatrics.

Apraxia of Speech: Perceptual Analysis of Trisyllabic Word Productions across Repeated Sampling Occasions

Science.gov (United States)

Mauszycki, Shannon C.; Wambaugh, Julie L.; Cameron, Rosalea M.

2012-01-01

Purpose: Early apraxia of speech (AOS) research has characterized errors as being variable, resulting in a number of different error types being produced on repeated productions of the same stimuli. Conversely, recent research has uncovered greater consistency in errors, but there are limited data examining sound errors over time (more than one…

Treatment for Acquired Apraxia of Speech: Examination of Treatment Intensity and Practice Schedule

Science.gov (United States)

Wambaugh, Julie L.; Nessler, Christina; Cameron, Rosalea; Mauszycki, Shannon C.

2013-01-01

Purpose: The authors designed this investigation to extend the development of a treatment for acquired apraxia of speech (AOS)--sound production treatment (SPT)--by examining the effects of 2 treatment intensities and 2 schedules of practice. Method: The authors used a multiple baseline design across participants and behaviors with 4 speakers with…

Reward modulates oculomotor competition between differently valued stimuli.

Science.gov (United States)

Bucker, Berno; Silvis, Jeroen D; Donk, Mieke; Theeuwes, Jan

2015-03-01

The present work explored the effects of reward in the well-known global effect paradigm in which two objects appear simultaneously in close spatial proximity. The experiment consisted of three phases (i) a pre-training phase that served as a baseline, (ii) a reward-training phase to associate differently colored stimuli with high, low and no reward value, and (iii) a post-training phase in which rewards were no longer delivered, to examine whether objects previously associated with higher reward value attracted the eyes more strongly than those associated with low or no reward value. Unlike previous reward studies, the differently valued objects directly competed with each other on the same trial. The results showed that initially eye movements were not biased towards any particular stimulus, while in the reward-training phase, eye movements started to land progressively closer towards stimuli that were associated with a high reward value. Even though rewards were no longer delivered, this bias remained robustly present in the post-training phase. A time course analysis showed that the effect of reward was present for the fastest saccades (around 170 ms) and increased with increasing latency. Although strategic effects for slower saccades cannot be ruled out, we suggest that fast oculomotor responses became habituated and were no longer under strategic attentional control. Together the results imply that reward affects oculomotor competition in favor of stimuli previously associated high reward, when multiple reward associated objects compete for selection. Copyright © 2015 Elsevier Ltd. All rights reserved.

Speech Motor Development in Childhood Apraxia of Speech : Generating Testable Hypotheses by Neurocomputational Modeling

NARCIS (Netherlands)

Terband, H.; Maassen, B.

2010-01-01

Childhood apraxia of speech (CAS) is a highly controversial clinical entity, with respect to both clinical signs and underlying neuromotor deficit. In the current paper, we advocate a modeling approach in which a computational neural model of speech acquisition and production is utilized in order to

Speech motor development in childhood apraxia of speech: generating testable hypotheses by neurocomputational modeling.

NARCIS (Netherlands)

Terband, H.R.; Maassen, B.A.M.

2010-01-01

Childhood apraxia of speech (CAS) is a highly controversial clinical entity, with respect to both clinical signs and underlying neuromotor deficit. In the current paper, we advocate a modeling approach in which a computational neural model of speech acquisition and production is utilized in order to

Telehealth Delivery of Rapid Syllable Transitions (ReST) Treatment for Childhood Apraxia of Speech

Science.gov (United States)

Thomas, Donna C.; McCabe, Patricia; Ballard, Kirrie J.; Lincoln, Michelle

2016-01-01

Background: Rapid Syllable Transitions (ReST) treatment uses pseudo-word targets with varying lexical stress to target simultaneously articulation, prosodic accuracy and coarticulatory transitions in childhood apraxia of speech (CAS). The treatment is efficacious for the acquisition of imitated pseudo-words, and generalization of skill to…

The treatment of apraxia of speech : Speech and music therapy, an innovative joint effort

NARCIS (Netherlands)

Hurkmans, Josephus Johannes Stephanus

2016-01-01

Apraxia of Speech (AoS) is a neurogenic speech disorder. A wide variety of behavioural methods have been developed to treat AoS. Various therapy programmes use musical elements to improve speech production. A unique therapy programme combining elements of speech therapy and music therapy is called

APOE ε4 influences β-amyloid deposition in primary progressive aphasia and speech apraxia.

Science.gov (United States)

Josephs, Keith A; Duffy, Joseph R; Strand, Edythe A; Machulda, Mary M; Senjem, Matthew L; Lowe, Val J; Jack, Clifford R; Whitwell, Jennifer L

2014-11-01

Apolipoprotein E ε4 (APOE ε4) is a risk factor for β-amyloid deposition in Alzheimer's disease dementia. Its influence on β-amyloid deposition in speech and language disorders, including primary progressive aphasia (PPA), is unclear. One hundred thirty subjects with PPA or progressive speech apraxia underwent APOE genotyping and Pittsburgh compound B (PiB) PET scanning. The relationship between APOE ε4 and PiB status, as well as severity and regional distribution of PiB, was assessed. Forty-five subjects had an APOE ε4 allele and 60 subjects were PiB-positive. The odds ratio for a subject with APOE ε4 being PiB-positive compared with a subject without APOE ε4 being PiB-positive was 10.2 (95% confidence interval, 4.4-25.5; P speech apraxia but does not influence regional β-amyloid distribution or severity. Copyright © 2014 The Alzheimer's Association. Published by Elsevier Inc. All rights reserved.

Reliability and Validity of Korean Version of Apraxia Screen of TULIA (K-AST).

Science.gov (United States)

Kim, Soo Jin; Yang, You-Na; Lee, Jong Won; Lee, Jin-Youn; Jeong, Eunhwa; Kim, Bo-Ram; Lee, Jongmin

2016-10-01

To evaluate the reliability and validity of Korean version of AST (K-AST) as a bedside screening test of apraxia in patients with stroke for early and reliable detection. AST was translated into Korean, and the translated version received authorization from the author of AST. The performances of K-AST in 26 patients (21 males, 5 females; mean age 65.42±17.31 years) with stroke (23 ischemic, 3 hemorrhagic) were videotaped. To test the reliability and validity of K-AST, the recorded performances were assessed by two physiatrists and two occupational therapists twice at a 1-week interval. The patient performances at admission in Korean version of Mini-Mental State Examination (K-MMSE), self-care and transfer categories of Functional Independence Measure (FIM), and motor praxis area of Loewenstein Occupational Therapy Cognitive Assessment, the second edition (LOTCA-II) were also evaluated. Scores of motor praxis area of LOTCA-II was used to assess the validity of K-AST. Inter-rater reliabilities were 0.983 (preliable and valid test for bedside screening of apraxia.

Isolated oculomotor nerve palsy resulting from acute traumatic tentorial subdural hematoma

Directory of Open Access Journals (Sweden)

Cui V

2016-10-01

Full Text Available Victoria Cui,1 Timur Kouliev2 1Washington University School of Medicine, St Louis, MO, USA; 2Emergency Department, Beijing United Family Hospital, Beijing, China Abstract: Acute subdural hematoma (SDH resulting from head trauma is a potentially life-threatening condition that requires expedient diagnosis and intervention to ensure optimal patient outcomes. Rapidly expanding or large hematomas, elevated intracranial pressure, and associated complications of brain herniation are associated with high mortality rates and poor recovery of neurological function. However, smaller bleeds (clot thickness <10 mm or hematomas occurring in infrequent locations, such as the tentorium cerebelli, may be difficult to recognize and patients may present with unusual or subtle signs and symptoms, including isolated cranial nerve palsies. Knowledge of neuroanatomy supported by modern neuroimaging can greatly aid in recognition and diagnosis of such lesions. In this report, we present a case of isolated oculomotor nerve palsy resulting from compressive tentorial SDH following blunt head trauma, review the literature concerning similar cases, and make recommendations regarding the diagnosis of SDH in patients presenting with isolated cranial nerve palsies. Keywords: head injury, oculomotor, palsy, subdural hematoma, trauma, tentorium, cerebral herniation, intracranial hemorrhage

Motor Speech Phenotypes of Frontotemporal Dementia, Primary Progressive Aphasia, and Progressive Apraxia of Speech

Science.gov (United States)

Poole, Matthew L.; Brodtmann, Amy; Darby, David; Vogel, Adam P.

2017-01-01

Purpose: Our purpose was to create a comprehensive review of speech impairment in frontotemporal dementia (FTD), primary progressive aphasia (PPA), and progressive apraxia of speech in order to identify the most effective measures for diagnosis and monitoring, and to elucidate associations between speech and neuroimaging. Method: Speech and…

Error Variability and the Differentiation between Apraxia of Speech and Aphasia with Phonemic Paraphasia

Science.gov (United States)

Haley, Katarina L.; Jacks, Adam; Cunningham, Kevin T.

2013-01-01

Purpose: This study was conducted to evaluate the clinical utility of error variability for differentiating between apraxia of speech (AOS) and aphasia with phonemic paraphasia. Method: Participants were 32 individuals with aphasia after left cerebral injury. Diagnostic groups were formed on the basis of operationalized measures of recognized…

Measuring disabilities in stroke patients with apraxia : A validation study of an observational method

NARCIS (Netherlands)

van Heugten, CM; Dekker, J; Deelman, BG; van Dijk, AJ; Stehmann-Saris, FC; Kinebanian, A

The objective of the present study was to determine the clinical and construct validity of the assessment of disabilities in stroke patients with apraxia. Disabilities were assessed by means of observation of activities of daily living (ADL), such as washing the face and upper body and putting on a

Measuring disabilities in stroke patients with apraxia: a validation study of an observational method.

NARCIS (Netherlands)

Heugten, C.M. van; Dekker, J.; Deelman, B.G.; Dijk, A.J. van; Stehmann-Saris, F.C.; Kinebanian, A.

2000-01-01

The objective of the present study was to determine the clinical and construct validity of the assessment of disabilities in stroke patients with apraxia. Disabilities were assessed by means of observation of activities of daily living (ADL), such as washing the face and upper body and putting on a

The Effects of Feature-Based Priming and Visual Working Memory on Oculomotor Capture

NARCIS (Netherlands)

Silvis, J.D.; Belopolsky, A.V.; Murris, J.W.; Donk, M.

2015-01-01

Recently, it has been demonstrated that objects held in working memory can influence rapid oculomotor selection. This has been taken as evidence that perceptual salience can be modified by active working memory representations. The goal of the present study was to examine whether these results could

More than Meets the Eye: Age Differences in the Capture and Suppression of Oculomotor Action

Science.gov (United States)

Ridderinkhof, K. Richard; Wijnen, Jasper G.

2011-01-01

Salient visual stimuli capture attention and trigger an eye-movement toward its location reflexively, regardless of an observer’s intentions. Here we aim to investigate the effect of aging (1) on the extent to which salient yet task-irrelevant stimuli capture saccades, and (2) on the ability to selectively suppress such oculomotor responses. Young and older adults were asked to direct their eyes to a target appearing in a stimulus array. Analysis of overall performance shows that saccades to the target object were disrupted by the appearance of a task-irrelevant abrupt-onset distractor when the location of this distractor did not coincide with that of the target object. Conditional capture function analyses revealed that, compared to young adults, older adults were more susceptible to oculomotor capture, and exhibited deficient selective suppression of the responses captured by task-irrelevant distractors. These effects were uncorrelated, suggesting two independent sources off age-related decline. Thus, with advancing age, salient visual distractors become more distracting; in part because they trigger reflexive eye-movements more potently; in part because of failing top-down control over such reflexes. The fact that these process-specific age effects remained concealed in overall oculomotor performance analyses emphasizes the utility of looking beyond the surface; indeed, there may be more than meets the eye. PMID:22046165

Afferent fibers and sensory ganglion cells within the oculomotor nerve in some mammals and man. II. Electrophysiological investigations.

Science.gov (United States)

Manni, E; Bortolami, R; Pettorossi, V E; Lucchi, M L; Callegari, E

1978-01-01

The main aim of the present study was to localize with electrophysiological techniques the central projections and terminations of the aberrant trigeminal fibres contained in the oculomotor nerve of the lamb. After severing a trigeminal root, single-shock electrical stimulation of the trigeminal axons present in the central stump of the ipsilateral oculomotor nerve evoked field potentials in the area of, i) the subnucleus gelatinosus of the nucleus caudalis trigemini at the level of C1-C2; ii) the main sensory trigeminal nucleus; iii) the descending trigeminal nucleus and tract; iv) the adjacent reticular formation. Units whose discharge rate was influenced by such a stimulation were also found in the same territories. These regions actually exhibited degenerations after cutting an oculomotor nerve. We conclude, therefore, that the trigeminal fibres which leave the Vth nerve at the level of the cavernous sinus and enter the brain stem through the IIIrd nerve, end in the same structures which receive the terminations of the afferent fibres entering the brain stem through the sensory trigeminal root.

Whole-exome sequencing supports genetic heterogeneity in childhood apraxia of speech

OpenAIRE

Worthey, Elizabeth A; Raca, Gordana; Laffin, Jennifer J; Wilk, Brandon M; Harris, Jeremy M; Jakielski, Kathy J; Dimmock, David P; Strand, Edythe A; Shriberg, Lawrence D

2013-01-01

Background Childhood apraxia of speech (CAS) is a rare, severe, persistent pediatric motor speech disorder with associated deficits in sensorimotor, cognitive, language, learning and affective processes. Among other neurogenetic origins, CAS is the disorder segregating with a mutation in FOXP2 in a widely studied, multigenerational London family. We report the first whole-exome sequencing (WES) findings from a cohort of 10 unrelated participants, ages 3 to 19 years, with well-characterized CA...

A phonological analysis of the expressive and receptive articulatory difficulties of an aphasic with apraxia of speech: A case study

Directory of Open Access Journals (Sweden)

Aura Kagan

1977-11-01

Full Text Available The expressive and receptive phonological errors of an aphasic subject with mild apraxia of speech were analysed in terms of a distinctive feature framework. The results indicated that errors could be characterized linguistically and that such information could be of therapeutic significance. The relationship between articulation problems and ability to discriminate phonemes was investigated. Although no direct relationship was found, discrimination errors followed linguistic trends demonstrated in the articulation errors. The findings of this study suggest that the traditional idea of apraxia as a non-linguistic and purely motor disorder needs re-examination.

Oculomotor and neuropsychological effects of antipsychotic treatment for schizophrenia

Directory of Open Access Journals (Sweden)

Kristian S. Hill

2009-04-01

Full Text Available Cognitive enhancement has become an important target for drug therapies in schizophrenia. Treatment development in this area requires assessment approaches that are sensitive to procognitive effects of antipsychotic and adjunctive treatments. Ideally, new treatments will have translational characteristics for parallel human and animal research. Previous studies of antipsychotic effects on cognition have relied primarily on paper-and-pencil neuropsychological testing. No study has directly compared neurophysiological biomarkers and neuropsychological testing as strategies for assessing cognitive effects of antipsychotic treatment early in the course of schizophrenia. Anti psychotic-naive patients with schizophrenia were tested before treatment with risperidone and again 6 weeks later. Matched healthy participants were tested over a similar time period. Test-retest reliability, effect sizes of within-subject change, and multivariate/univariate analysis of variance were used to compare 3 neurophysiological tests (visually guided saccade, memory-guided saccade, and antisaccade with neuropsychological tests covering 4 cognitive domains (executive function, attention, memory, and manual motor function. While both measurement approaches showed robust neurocognitive impairments in patients prior to risperidone treatment, oculomotor biomarkers were more sensitive to treatment-related effects on neurocognitive function than traditional neuropsychological measures. Further, unlike the pattern of modest generalized cognitive improvement suggested by neuropsychological measures, the oculomotor findings revealed a mixed pattern of beneficial and adverse treatment related effects. These findings warrant further investigation regarding the utility of neurophysiological biomarkers for assessing cognitive outcomes of antipsychotic treatment in clinical trials and in early-phase drug development.

Error Consistency in Acquired Apraxia of Speech with Aphasia: Effects of the Analysis Unit

Science.gov (United States)

Haley, Katarina L.; Cunningham, Kevin T.; Eaton, Catherine Torrington; Jacks, Adam

2018-01-01

Purpose: Diagnostic recommendations for acquired apraxia of speech (AOS) have been contradictory concerning whether speech sound errors are consistent or variable. Studies have reported divergent findings that, on face value, could argue either for or against error consistency as a diagnostic criterion. The purpose of this study was to explain…

Efficacy of strategy training in left hemisphere stroke patients with apraxia: a randomized clinical trial.

NARCIS (Netherlands)

Dekker, J.; Donkervoort, M.; Stehman, F.C.; Deelman, B.G.

2001-01-01

The objective of the present study was to determine in a controlled study the efficacy of strategy training in left hemisphere stroke patients with apraxia. 113 Left hemisphere assigned to two treatment groups: i) strategy training integrated into usual occupational therapy and ii) usual

Neurophysiology of speech differences in childhood apraxia of speech.

Science.gov (United States)

Preston, Jonathan L; Molfese, Peter J; Gumkowski, Nina; Sorcinelli, Andrea; Harwood, Vanessa; Irwin, Julia R; Landi, Nicole

2014-01-01

Event-related potentials (ERPs) were recorded during a picture naming task of simple and complex words in children with typical speech and with childhood apraxia of speech (CAS). Results reveal reduced amplitude prior to speaking complex (multisyllabic) words relative to simple (monosyllabic) words for the CAS group over the right hemisphere during a time window thought to reflect phonological encoding of word forms. Group differences were also observed prior to production of spoken tokens regardless of word complexity during a time window just prior to speech onset (thought to reflect motor planning/programming). Results suggest differences in pre-speech neurolinguistic processes.

Pallidal Deep Brain Stimulation Improves Higher Control of the Oculomotor System in Parkinson's Disease.

Science.gov (United States)

Antoniades, Chrystalina A; Rebelo, Pedro; Kennard, Christopher; Aziz, Tipu Z; Green, Alexander L; FitzGerald, James J

2015-09-23

The frontal cortex and basal ganglia form a set of parallel but mostly segregated circuits called cortico-basal ganglia loops. The oculomotor loop controls eye movements and can direct relatively simple movements, such as reflexive prosaccades, without external help but needs input from "higher" loops for more complex behaviors. The antisaccade task requires the dorsolateral prefrontal cortex, which is part of the prefrontal loop. Information flows from prefrontal to oculomotor circuits in the striatum, and directional errors in this task can be considered a measure of failure of prefrontal control over the oculomotor loop. The antisaccadic error rate (AER) is increased in Parkinson's disease (PD). Deep brain stimulation (DBS) of the subthalamic nucleus (STN) has no effect on the AER, but a previous case suggested that DBS of the globus pallidus interna (GPi) might. Our aim was to compare the effects of STN DBS and GPi DBS on the AER. We tested eye movements in 14 human DBS patients and 10 controls. GPi DBS substantially reduced the AER, restoring lost higher control over oculomotor function. Interloop information flow involves striatal neurons that receive cortical input and project to pallidum. They are normally silent when quiescent, but in PD they fire randomly, creating noise that may account for the degradation in interloop control. The reduced AER with GPi DBS could be explained by retrograde stimulation of striatopallidal axons with consequent activation of inhibitory collaterals and reduction in background striatal firing rates. This study may help explain aspects of PD pathophysiology and the mechanism of action of GPi DBS. Significance statement: Parkinson's disease causes symptoms including stiffness, slowness of movement, and tremor. Electrical stimulation of specific areas deep in the brain can effectively treat these symptoms, but exactly how is not fully understood. Part of the cause of such symptoms may be impairments in the way information flows

The Production of Emotional Prosody in Varying Degrees of Severity of Apraxia of Speech.

Science.gov (United States)

Van Putten, Steffany M.; Walker, Judy P.

2003-01-01

A study examined the abilities of three adults with varying degrees of apraxia of speech (AOS) to produce emotional prosody. Acoustic analyses of the subjects' productions revealed that unlike the control subject, the subjects with AOS did not produce differences in duration and amplitude cues to convey different emotions. (Contains references.)…

Oculomotor Anomalies in Attention-Deficit/Hyperactivity Disorder: Evidence for Deficits in Response Preparation and Inhibition

Science.gov (United States)

Mahone, E. Mark; Mostofsky, Stewart H.; Lasker, Adrian G.; Zee, David; Denckla, Martha B.

2009-01-01

Girls, but not boys, with attention deficit hyperactivity disorder (ADHD) have significantly longer visually guided saccades latencies. It is found that sex differences in children with ADHD extend beyond symptom presentation to the development of oculomotor control.

Less efficient oculomotor performance is associated with increased incidence of head impacts in high school ice hockey.

Science.gov (United States)

Kiefer, Adam W; DiCesare, Christopher; Nalepka, Patrick; Foss, Kim Barber; Thomas, Staci; Myer, Gregory D

2018-01-01

To evaluate associations between pre-season oculomotor performance on visual tracking tasks and in-season head impact incidence during high school boys ice hockey. Prospective observational study design. Fifteen healthy high school aged male hockey athletes (M=16.50±1.17years) performed two 30s blocks each of a prosaccade and self-paced saccade task, and two trials each of a slow, medium, and fast smooth pursuit task (90°s -1 ; 180°s -1 ; 360°s -1 ) during the pre-season. Regular season in-game collision data were collected via helmet-mounted accelerometers. Simple linear regressions were used to examine relations between oculomotor performance measures and collision incidence at various impact thresholds. The variability of prosaccade latency was positively related to total collisions for the 20g force cutoff (p=0.046, adjusted R 2 =0.28). The average self-paced saccade velocity (p=0.020, adjusted R 2 =0.37) and variability of smooth pursuit gaze velocity (p=0.012, adjusted R 2 =0.47) were also positively associated with total collisions for the 50g force cutoff. These results provide preliminary evidence that less efficient oculomotor performance on three different oculomotor tasks is associated with increased incidence of head impacts during a competitive ice hockey season. The variability of prosaccade latency, the average self-paced saccade velocity and the variability of gaze velocity during predictable smooth pursuit all related to increased head impacts. Future work is needed to further understand player initiated collisions, but this is an important first step toward understanding strategies to reduce incidence of injury risk in ice hockey, and potentially contact sports more generally. Copyright © 2017 Sports Medicine Australia. Published by Elsevier Ltd. All rights reserved.

Ideational apraxia in Parkinson disease.

Science.gov (United States)

Qureshi, Mohammad; Williamson, John B; Heilman, Kenneth M

2011-09-01

: The objective of the study was to determine whether ideational apraxia (IA), a loss of ability to plan the sequence of actions needed to achieve a goal, is associated with Parkinson disease (PD). : The frontal lobes play an important role in planning and sequencing, and many patients with PD have frontal lobe dysfunction. : Ten right-handed patients with PD and 10 right-handed neurologically and psychiatrically healthy people participated. To assess for IA, participants were given sets of pictures that showed the steps in completing a task, but the steps were shown out of order. The participants were required to point to the pictures in the correct sequence to complete each task. The participants also performed a control task of sequencing randomly arranged printed single words to create a sentence that described an accompanying picture. : The patients with PD performed more poorly than the controls on the action-sequencing tasks (Pwords to make a sentence. : These results indicate that patients with PD do have IA, an action-sequence planning deficit. Further research is needed to better understand mechanisms, ecological implications, and potential treatments.

Temporal Oculomotor Inhibition of Return and Spatial Facilitation of Return in a Visual Encoding Task

Directory of Open Access Journals (Sweden)

Steven G Luke

2013-07-01

Full Text Available Oculomotor inhibition of return (O-IOR is an increase in saccade latency prior to an eye movement to a recently fixated location compared to other locations. It has been proposed that this temporal O-IOR may have spatial consequences, facilitating foraging by inhibiting return to previously attended regions. In order to test this possibility, participants viewed arrays of objects and of words while their eye movements were recorded. Temporal O-IOR was observed, with equivalent effects for object and word arrays, indicating that temporal O-IOR is an oculomotor phenomenon independent of array content. There was no evidence for spatial inhibition of return. Instead, spatial facilitation of return was observed: Participants were significantly more likely than chance to make return saccades and to refixate just-visited locations. Further, the likelihood of making a return saccade to an object or word was contingent on the amount of time spent viewing that object or word before leaving it. This suggests that, unlike temporal O-IOR, return probability is influenced by cognitive processing. Taken together, these results are inconsistent with the hypothesis that inhibition of return functions as a foraging facilitator. The results also provide strong evidence for a different oculomotor bias that could serve as a foraging facilitator: saccadic momentum, a tendency to repeat the most recently executed saccade program. We suggest that models of visual attention could incorporate saccadic momentum in place of inhibition of return.

Oculomotor executive function abnormalities with increased tic severity in Tourette syndrome.

Science.gov (United States)

Jeter, Cameron B; Patel, Saumil S; Morris, Jeffrey S; Chuang, Alice Z; Butler, Ian J; Sereno, Anne B

2015-02-01

Reports conflict as to whether Tourette syndrome (TS) confers deficits in executive function. This study's aim was to evaluate executive function in youths with TS using oculomotor tasks while controlling for confounds of tic severity, age, medication, and severity of comorbid disorders. Four saccade tasks requiring the executive functions of response generation, response inhibition, and working memory (prosaccade, antisaccade, 0-back, and 1-back) were administered. Twenty youths with TS and low tic severity (TS-low), nineteen with TS and moderate tic severity (TS-moderate), and 29 typically developing control subjects (Controls) completed the oculomotor tasks. There were small differences across groups in the prosaccade task. Controlling for any small sensorimotor differences, TS-moderate subjects had significantly higher error rates than Controls and TS-low subjects in the 0-back and 1-back tasks. In the 1-back task, these patients also took longer to respond than Controls or TS-low subjects. In a highly controlled design, the findings demonstrate for the first time that increased tic severity in TS is associated with impaired response inhibition and impaired working memory and that these executive function deficits cannot be accounted for by differences in age, medication or comorbid symptom severity. © 2014 Association for Child and Adolescent Mental Health.

Effectiveness of an Integrated Phonological Awareness Approach for Children with Childhood Apraxia of Speech (CAS)

Science.gov (United States)

McNeill, Brigid C.; Gillon, Gail T.; Dodd, Barbara

2009-01-01

This study investigated the effectiveness of an integrated phonological awareness approach for children with childhood apraxia of speech (CAS). Change in speech, phonological awareness, letter knowledge, word decoding, and spelling skills were examined. A controlled multiple single-subject design was employed. Twelve children aged 4-7 years with…

Combined Aphasia and Apraxia of Speech Treatment (CAAST): effects of a novel therapy.

Science.gov (United States)

Wambaugh, Julie L; Wright, Sandra; Nessler, Christina; Mauszycki, Shannon C

2014-12-01

This investigation was designed to examine the effects of a newly developed treatment for aphasia and acquired apraxia of speech (AOS). Combined Aphasia and Apraxia of Speech Treatment (CAAST) targets language and speech production simultaneously, with treatment techniques derived from Response Elaboration Training (Kearns, 1985) and Sound Production Treatment (Wambaugh, Kalinyak-Fliszar, West, & Doyle, 1998). The purpose of this study was to determine whether CAAST was associated with positive changes in verbal language and speech production with speakers with aphasia and AOS. Four participants with chronic aphasia and AOS received CAAST applied sequentially to sets of pictures in the context of multiple baseline designs. CAAST entailed elaboration of participant-initiated utterances, with sound production training applied as needed to the elaborated productions. The dependent variables were (a) production of correct information units (CIUs; Nicholas & Brookshire, 1993) in response to experimental picture stimuli, (b) percentage of consonants correct in sentence repetition, and (c) speech intelligibility. CAAST was associated with increased CIU production in trained and untrained picture sets for all participants. Gains in sound production accuracy and speech intelligibility varied across participants; a modification of CAAST to provide additional speech production treatment may be desirable.

Lack of awareness for spatial and verbal constructive apraxia.

Science.gov (United States)

Rinaldi, Maria Cristina; Piras, Federica; Pizzamiglio, Luigi

2010-05-01

It is still a matter of debate whether constructive apraxia (CA) should be considered a form of apraxia or, rather, the motor expression of a more pervasive impairment in visuo-spatial processing. Constructive disorders were linked to visuo-spatial disorders and to deficits in appreciating spatial relations among component sub-parts or problems in reproducing three-dimensionality. We screened a large population of brain-damaged patients for CA. Only patients with constructive disorders and no signs of neglect and/or aphasia were selected. Five apractic subjects were tested with both visuo-spatial and verbal tasks requiring constructive abilities. The former ones were tests such as design copying, while the latter were experimental tasks built to transpose into the linguistic domain the constructive process as phrasing by arranging paper scraps into a sentence. A first result showed a constructive impairment in both the visuo-spatial and the linguistic domain; this finding challenges the idea that CA is confined to the visuo-spatial domain. A second result showed a systematic association between CA and unawareness for constructive disorders. Third, lack of awareness was always associated with a lesion in the right dorsolateral prefrontal cortex, a region deemed as involved in managing a conflict between intentions and sensory feed-back. Anosognosia for constructive disorders and the potential role of the right prefrontal cortex in generating the impairment, are discussed in the light of current models of action control. The core of CA could be the inability to detect any inconsistency between intended and executed action rather than a deficit in reproducing spatial relationship. 2010 Elsevier Ltd. All rights reserved.

Consonant and Syllable Structure Patterns in Childhood Apraxia of Speech: Developmental Change in Three Children

Science.gov (United States)

Jacks, Adam; Marquardt, Thomas P.; Davis, Barbara L.

2006-01-01

Changes in consonant and syllable-level error patterns of three children diagnosed with childhood apraxia of speech (CAS) were investigated in a 3-year longitudinal study. Spontaneous speech samples were analyzed to assess the accuracy of consonants and syllables. Consonant accuracy was low overall, with most frequent errors on middle- and…

The Diagnosis and Understanding of Apraxia of Speech: Why Including Neurodegenerative Etiologies May Be Important

Science.gov (United States)

Duffy, Joseph R.; Josephs, Keith A.

2012-01-01

Purpose: To discuss apraxia of speech (AOS) as it occurs in neurodegenerative disease (progressive AOS [PAOS]) and how its careful study may contribute to general concepts of AOS and help refine its diagnostic criteria. Method: The article summarizes our current understanding of the clinical features and neuroanatomical and pathologic correlates…

Speech Motor Programming in Apraxia of Speech: Evidence from a Delayed Picture-Word Interference Task

Science.gov (United States)

Mailend, Marja-Liisa; Maas, Edwin

2013-01-01

Purpose: Apraxia of speech (AOS) is considered a speech motor programming impairment, but the specific nature of the impairment remains a matter of debate. This study investigated 2 hypotheses about the underlying impairment in AOS framed within the Directions Into Velocities of Articulators (DIVA; Guenther, Ghosh, & Tourville, 2006) model: The…

Feedforward and Feedback Control in Apraxia of Speech: Effects of Noise Masking on Vowel Production

Science.gov (United States)

Maas, Edwin; Mailend, Marja-Liisa; Guenther, Frank H.

2015-01-01

Purpose: This study was designed to test two hypotheses about apraxia of speech (AOS) derived from the Directions Into Velocities of Articulators (DIVA) model (Guenther et al., 2006): the feedforward system deficit hypothesis and the feedback system deficit hypothesis. Method: The authors used noise masking to minimize auditory feedback during…

Poor Speech Perception Is Not a Core Deficit of Childhood Apraxia of Speech: Preliminary Findings

Science.gov (United States)

Zuk, Jennifer; Iuzzini-Seigel, Jenya; Cabbage, Kathryn; Green, Jordan R.; Hogan, Tiffany P.

2018-01-01

Purpose: Childhood apraxia of speech (CAS) is hypothesized to arise from deficits in speech motor planning and programming, but the influence of abnormal speech perception in CAS on these processes is debated. This study examined speech perception abilities among children with CAS with and without language impairment compared to those with…

Abnormal dynamics of activation of object use information in apraxia: evidence from eyetracking

Science.gov (United States)

Lee, Chia-lin; Mirman, Daniel; Buxbaum, Laurel J.

2014-01-01

Action representations associated with object use may be incidentally activated during visual object processing, and the time course of such activations may be influenced by lexical-semantic context (e.g., Lee, Middleton, Mirman, Kalénine, & Buxbaum, 2012). In this study we used the “visual world” eye-tracking paradigm to examine whether a deficit in producing skilled object-use actions (apraxia) is associated with abnormalities in incidental activation of action information, and assessed the neuroanatomical substrates of any such deficits. Twenty left hemisphere stroke patients, ten of whom were apraxic, performed a task requiring identification of a named object in a visual display containing manipulation-related and unrelated distractor objects. Manipulation relationships among objects were not relevant to the identification task. Objects were cued with neutral (“S/he saw the….”), or action-relevant (“S/he used the….”) sentences. Non-apraxic participants looked at use-related non-target objects significantly more than at unrelated non-target objects when cued both by neutral and action-relevant sentences, indicating that action information is incidentally activated. In contrast, apraxic participants showed delayed activation of manipulation-based action information during object identification when cued by neutral sentences. The magnitude of delayed activation in the neutral sentence condition was reliably predicted by lower scores on a test of gesture production to viewed objects, as well as by lesion loci in the inferior parietal and posterior temporal lobes. However, when cued by a sentence containing an action verb, apraxic participants showed fixation patterns that were statistically indistinguishable from non-apraxic controls. In support of grounded theories of cognition, these results suggest that apraxia and temporal-parietal lesions may be associated with abnormalities in incidental activation of action information from objects. Further

The Hypothesis of Apraxia of Speech in Children with Autism Spectrum Disorder

OpenAIRE

Shriberg, Lawrence D.; Paul, Rhea; Black, Lois M.; van Santen, Jan P.

2011-01-01

In a sample of 46 children aged 4 to 7 years with Autism Spectrum Disorder (ASD) and intelligible speech, there was no statistical support for the hypothesis of concomitant Childhood Apraxia of Speech (CAS). Perceptual and acoustic measures of participants’ speech, prosody, and voice were compared with data from 40 typically-developing children, 13 preschool children with Speech Delay, and 15 participants aged 5 to 49 years with CAS in neurogenetic disorders. Speech Delay and Speech Errors, r...

Kinematic Investigation of Lingual Movement in Words of Increasing Length in Acquired Apraxia of Speech

Science.gov (United States)

Bartle-Meyer, Carly J.; Goozee, Justine V.; Murdoch, Bruce E.

2009-01-01

The current study aimed to use electromagnetic articulography (EMA) to investigate the effect of increasing word length on lingual kinematics in acquired apraxia of speech (AOS). Tongue-tip and tongue-back movement was recorded for five speakers with AOS and a concomitant aphasia (mean age = 53.6 years; SD = 12.60) during target consonant…

Expanding the BP1-BP2 15q11.2 Microdeletion Phenotype: Tracheoesophageal Fistula and Congenital Cataracts

Directory of Open Access Journals (Sweden)

D. Wong

2013-01-01

Full Text Available The proximal q arm of chromosome 15 contains breakpoint regions BP1–BP5 with the classic deletion of BP1–BP3 best known to be associated with Prader-Willi and Angelman syndromes. The region is approximately 500 kb and microdeletions within the BP1-BP2 region have been reported in patients with developmental delay, behavioral abnormalities, and motor apraxia as well as dysmorphic features including hypertelorism, cleft or narrow palate, ear abnormalities, and recurrent upper airway infections. We report two patients with unique, never-before-reported 15q11.2 BP1-2 microdeletion syndrome findings, one with proximal esophageal atresia and distal tracheoesophageal fistula (type C and one with congenital cataracts. Cataracts have been described in Prader-Willi syndrome but we could not find any description of cataracts in Angelman syndrome. Esophageal atresia and tracheoesophageal fistula have not been reported to our knowledge in either syndrome. A chance exists that both cases are sporadic birth defects; however, the findings of the concomitant microdeletion cannot be overlooked as a possible cause. Based on our review of the literature and the presentation of our patients, we recommend that esophageal atresia and distal tracheoesophageal fistula as well as congenital cataracts be included in the phenotypic spectrum of 15q11.2 BP1-2 microdeletion syndrome.

Prevalence of apraxia among patients with a first left hemisphere stroke in rehabilitation centres and nursing homes.

NARCIS (Netherlands)

Donkervoort, M.; Dekker, J.; Ende, E. van den; Stehmann-Saris, J.C.; Deelman, B.G.

2000-01-01

OBJECTIVE: To investigate the prevalence of apraxia in patients with a first left hemisphere stroke. SUBJECTS: Left hemisphere stroke patients staying at an inpatient care unit of a rehabilitation centre or nursing home and receiving occupational therapy (n = 600). MEASURES: A short questionnaire on

Prevalence of apraxia among patients with a first left hemisphere stroke in rehabilitation centres and nursing homes

NARCIS (Netherlands)

Donkervoort, M; Dekker, J; van den Ende, E; Stehmann-Saris, J. C.; Deelman, B. G.

Objective: To investigate the prevalence of apraxia in patients with a first left hemisphere stroke. Subjects. Left hemisphere stroke patients staying at an inpatient care unit of a rehabilitation centre or nursing home and receiving occupational therapy (n = 600). Measures: A short questionnaire on

The Role of the Oculomotor System in Updating Visual-Spatial Working Memory across Saccades.

Science.gov (United States)

Boon, Paul J; Belopolsky, Artem V; Theeuwes, Jan

2016-01-01

Visual-spatial working memory (VSWM) helps us to maintain and manipulate visual information in the absence of sensory input. It has been proposed that VSWM is an emergent property of the oculomotor system. In the present study we investigated the role of the oculomotor system in updating of spatial working memory representations across saccades. Participants had to maintain a location in memory while making a saccade to a different location. During the saccade the target was displaced, which went unnoticed by the participants. After executing the saccade, participants had to indicate the memorized location. If memory updating fully relies on cancellation driven by extraretinal oculomotor signals, the displacement should have no effect on the perceived location of the memorized stimulus. However, if postsaccadic retinal information about the location of the saccade target is used, the perceived location will be shifted according to the target displacement. As it has been suggested that maintenance of accurate spatial representations across saccades is especially important for action control, we used different ways of reporting the location held in memory; a match-to-sample task, a mouse click or by making another saccade. The results showed a small systematic target displacement bias in all response modalities. Parametric manipulation of the distance between the to-be-memorized stimulus and saccade target revealed that target displacement bias increased over time and changed its spatial profile from being initially centered on locations around the saccade target to becoming spatially global. Taken together results suggest that we neither rely exclusively on extraretinal nor on retinal information in updating working memory representations across saccades. The relative contribution of retinal signals is not fixed but depends on both the time available to integrate these signals as well as the distance between the saccade target and the remembered location.

Assessing the treatment effects in apraxia of speech : introduction and evaluation of the Modified Diadochokinesis Test

NARCIS (Netherlands)

Hurkmans, Joost; Jonkers, Roel; Boonstra, Anne M.; Stewart, Roy E.; Reinders-Messelink, Heleen A.

2012-01-01

Background: The number of reliable and valid instruments to measure the effects of therapy in apraxia of speech (AoS) is limited. Aims: To evaluate the newly developed Modified Diadochokinesis Test (MDT), which is a task to assess the effects of rate and rhythm therapies for AoS in a multiple

Ophthalmologic outcome after third cranial nerve palsy or paresis in childhood.

Science.gov (United States)

Mudgil, A V; Repka, M X

1999-02-01

The purpose of this study was to evaluate the causes and ophthalmologic outcome of oculomotor nerve palsy or paresis in children younger than 8 years of age. Patients evaluated between 1985 and 1997 were retrospectively reviewed. Data analyzed included vision, residual strabismus after surgery, aberrant reinnervation, binocular function, and anisometropia. Long-term outcome was assessed in patients followed-up longer than 6 months. Forty-one patients were identified. The most frequent causes were congenital (39%), traumatic (37%), and neoplastic (17%). Visual acuities were reduced in 71% of patients at the time of the initial visit. Long-term outcome could be assessed in 20 of the 41 patients (49%), with a mean follow-up of 3.6 years (range, 0.5 to 13 years). Visual acuities were reduced because of amblyopia in 35% and nonamblyopic factors in 25% of patients in the long-term outcome group at last follow-up. The best response to amblyopia therapy was in the congenital group, in which all patients improved to normal visual acuity. Strabismus surgery was performed on 8 of 20 children (40%) followed-up, none of whom demonstrated measurable stereopsis after operation despite improved alignment. Aberrant reinnervation was present in 9 of 20 patients (45%). Only 3 patients fully recovered from their oculomotor nerve injuries, and these were the only patients to regain measurable stereopsis. The causes in those 3 patients were congenital, traumatic, and neoplastic. Oculomotor nerve palsy/paresis is associated with poor visual and sensorimotor outcome in children younger than 8 years of age. The best ophthalmologic outcome was in the resolved cases (3 of 20; 15%). Amblyopia therapy was most effective with congenital causes, but treatment results were poor with other causes. Young children with posttraumatic and postneoplastic oculomotor nerve injuries demonstrated the worst ophthalmologic outcomes.

PSP-CBS with Dopamine Deficiency in a Female with a FMR1 Premutation.

Science.gov (United States)

Paucar, Martin; Beniaminov, Stanislav; Paslawski, Wojciech; Svenningsson, Per

2016-10-01

Premutations in the fragile X mental retardation 1 (FMR1) gene cause fragile X-associated tremor/ataxia syndrome (FXTAS) and FMR1-related primary ovarian insufficiency (POI). Female FMR1 premutation carriers rarely develop motor features. Dual pathology is an emerging phenomenon among FMR1 premutation carriers. Here, we describe a family affected by FMR1-related disorders in which the female index case has developed a rapidly progressive and disabling syndrome of atypical parkinsonism. This syndrome consists of early onset postural instability, echolalia, dystonia, and varying types of apraxia like early onset orobuccal apraxia and oculomotor apraxia. She has also developed supranuclear gaze palsy, increased latency of saccade initiation, and slow saccades. These features are compatible with progressive supranuclear palsy (PSP) of a corticobasal syndrome (CBS) variant. Imaging displays a marked reduction of presynaptic dopaminergic uptake and cerebrospinal fluid analysis showed reduced dopamine metabolism; however, the patient is unresponsive to levodopa. Midbrain atrophy ("hummingbird sign") and mild cerebellar atrophy were found on brain MRI. Her father was affected by a typical FXTAS presentation but also displayed dopamine deficiency along with the hummingbird sign. The mechanisms by which FMR1 premutations predispose to atypical parkinsonism and dopamine deficiency await further elucidation.

Combining two model systems of psychosis: The effects of schizotypy and sleep deprivation on oculomotor control and psychotomimetic states.

Science.gov (United States)

Meyhöfer, Inga; Steffens, Maria; Faiola, Eliana; Kasparbauer, Anna-Maria; Kumari, Veena; Ettinger, Ulrich

2017-11-01

Model systems of psychosis, such as schizotypy or sleep deprivation, are valuable in informing our understanding of the etiology of the disorder and aiding the development of new treatments. Schizophrenia patients, high schizotypes, and sleep-deprived subjects are known to share deficits in oculomotor biomarkers. Here, we aimed to further validate the schizotypy and sleep deprivation models and investigated, for the first time, their interactive effects on smooth pursuit eye movements (SPEM), prosaccades, antisaccades, predictive saccades, and measures of psychotomimetic states, anxiety, depression, and stress. To do so, n = 19 controls and n = 17 high positive schizotypes were examined after both a normal sleep night and 24 h of sleep deprivation. Schizotypes displayed higher SPEM global position error, catch-up saccade amplitude, and increased psychotomimetic states. Sleep deprivation impaired SPEM, prosaccade, antisaccade, and predictive saccade performance and increased levels of psychotomimetic experiences. Additionally, sleep deprivation reduced SPEM gain in schizotypes but not controls. We conclude that oculomotor impairments are observed in relation to schizotypy and following sleep deprivation, supporting their utility as biomarkers in model systems of psychosis. The combination of these models with oculomotor biomarkers may be particularly fruitful in assisting the development of new antipsychotic or pro-cognitive drugs. © 2017 Society for Psychophysiological Research.

Heterogeneidad clínica de la demencia y severidad de la apraxia en pacientes con demencia tipo Alzheimer

Directory of Open Access Journals (Sweden)

Daniel G. Politis

2013-11-01

Full Text Available La evolución clínica de la Enfermedad de Alzheimer presenta gran heterogeneidad clínica. Se han descripto diferentes subtipos clínicos, entre ellos Mayeux et al. (1985 reportan la existencia de 4, que presentan diferentes niveles de severidad cognitiva y funcional. La diversidad clínica de estos no ha sido claramente investigada.La evolución clínica de la Enfermedad de Alzheimer presenta gran heterogeneidad clínica. Se han descripto diferentes subtipos clínicos, entre ellos Mayeux et al. (1985 reportan la existencia de 4, que presentan diferentes niveles de severidad cognitiva y funcional. La diversidad clínica de estos no ha sido claramente investigada.Objetivos: estudiar la severidad de demencia, la severidad de la apraxia y el deterioro funcional en relación con los subtipos clínicos de Mayeux en pacientes con Demencia tipo Alzheimer (DTA. Se evaluaron 49 pacientes con diagnóstico de DTA. Se encontraron correlaciones estadísticamente significativas entre la clasificación de Mayeux con la severidad de la demencia, la severidad de la apraxia y el deterioro funcional.La severidad de demencia, de la apraxia y el deterioro funcional parece acompañar los diferentes subtipos clínicos descriptos por Mayeux, por lo cual la evaluación y detección de las mismas podrían contribuir a la clasificación clínica y pronóstico de la DTA.

Oculomotor Behavior Metrics Change According to Circadian Phase and Time Awake

Science.gov (United States)

Flynn-Evans, Erin E.; Tyson, Terence L.; Cravalho, Patrick; Feick, Nathan; Stone, Leland S.

2017-01-01

There is a need for non-invasive, objective measures to forecast performance impairment arising from sleep loss and circadian misalignment, particularly in safety-sensitive occupations. Eye-tracking devices have been used in some operational scenarios, but such devices typically focus on eyelid closures and slow rolling eye movements and are susceptible to the intrusion of head movement artifacts. We hypothesized that an expanded suite of oculomotor behavior metrics, collected during a visual tracking task, would change according to circadian phase and time awake, and could be used as a marker of performance impairment.

Assessing the Treatment Effects in Apraxia of Speech: Introduction and Evaluation of the Modified Diadochokinesis Test

Science.gov (United States)

Hurkmans, Joost; Jonkers, Roel; Boonstra, Anne M.; Stewart, Roy E.; Reinders-Messelink, Heleen A.

2012-01-01

Background: The number of reliable and valid instruments to measure the effects of therapy in apraxia of speech (AoS) is limited. Aims: To evaluate the newly developed Modified Diadochokinesis Test (MDT), which is a task to assess the effects of rate and rhythm therapies for AoS in a multiple baseline across behaviours design. Methods: The…

Challenges in sleep stage R scoring in patients with autosomal dominant spinocerebellar ataxias (SCA1, SCA2 and SCA3) and oculomotor abnormalities: a whole night polysomnographic evaluation.

Science.gov (United States)

Seshagiri, Doniparthi Venkata; Sasidharan, Arun; Kumar, Gulshan; Pal, Pramod Kumar; Jain, Sanjeev; Kutty, Bindu M; Yadav, Ravi

2018-02-01

Spinocerebellar ataxias are progressive neurodegenerative disorders characterized by progressive cerebellar features with additional neuro-axis involvement. Oculomotor abnormality is one of the most frequent manifestations. This study was done to assess the polysomnographic abnormalities in patients with Spinocerebellar ataxia (SCA1, SCA2 and SCA3) and also to evaluate whether oculomotor abnormalities interfere with sleep stage R scoring. The study was carried out using 36 genetically positive SCA patients. All patients underwent neurological examination with special focus on oculomotor function (optokinetic nystagmus-OKN and extraocular movement restriction-EOM). The sleep quality was measured with Pittsburgh Sleep Quality Index (PSQI) and Epworth Sleepiness Scale (ESS). Disease severity was assessed with International Cooperative Ataxia Rating Scale (ICARS). All the patients underwent over-night video-polysomnography (VPSG). Out of 36 patients studied, the data of 34 patients [SCA1 (n = 12), SCA2 (n = 13), SCA3 (n = 9)] were used for final analysis. Patients from SCA1, SCA2, and SCA3 category did not show significant differences in age and diseases severity (ICARS). All patients had vertical OKN impairment. Oculomotor impairment was higher in SCA2 patients. Sleep macro-architecture analysis showed absent stage R sleep, predominantly in SCA2 (69%) followed by SCA3 (44%) and SCA1 (8%). Patients showed a strong negative correlation of stage R sleep percentage with disease severity and oculomotor dysfunction. Voluntary saccadic eye movement velocity and rapid eye movements (REMs) in sleep are strongly correlated. The more severe the saccadic velocity impairment, the less likely was it to generate REMs (rapid eye movements) during stage R. Accordingly 69% of SCA2 patients with severe occulomotor impairments showed absent stage R as per the AASM sleep scoring. We presume that the impaired REMs generation in sleep could be due to oculomotor abnormality and has

Joubert syndrome: large clinical variability and a unique neuroimaging aspect

International Nuclear Information System (INIS)

Leao, Emilia Katiane Embirucu; Lima, Marcilia Martyn; Kok, Fernando; Parizotto, Juliana; Maia Junior, Otacilio de Oliveira

2010-01-01

Joubert syndrome (JS) is an autosomal recessive inherited disorder characterized by hypotonia, cerebellar vermis hypoplasia, ocular abnormalities (e.g. pigmentary retinopathy, oculomotor apraxia and nystagmus), renal cysts and hepatic fibrosis. Respiratory abnormalities, as apnoea and hyperpnoea, may be present, as well as mental retardation. At least seven JS loci have been determined and five genes identified. Herein, we report five children, belonging to independent families, with JS: they shared the same typical MRI abnormality, known as molar tooth sign, but had an otherwise quite variable phenotype, regarding mostly their cognitive performance, visual abilities and extra-neurological compromise. (author)

Joubert syndrome: large clinical variability and a unique neuroimaging aspect

Energy Technology Data Exchange (ETDEWEB)

Leao, Emilia Katiane Embirucu; Lima, Marcilia Martyn; Kok, Fernando; Parizotto, Juliana [University of Sao Paulo (USP), Sao Paulo, SP (Brazil). Clinical Hospital. Dept. of Child Neurology; Maia Junior, Otacilio de Oliveira [University of Sao Paulo (USP), Sao Paulo, SP (Brazil). Clinical Hospital. Dept. of Child Ophthalmology

2010-04-15

Joubert syndrome (JS) is an autosomal recessive inherited disorder characterized by hypotonia, cerebellar vermis hypoplasia, ocular abnormalities (e.g. pigmentary retinopathy, oculomotor apraxia and nystagmus), renal cysts and hepatic fibrosis. Respiratory abnormalities, as apnoea and hyperpnoea, may be present, as well as mental retardation. At least seven JS loci have been determined and five genes identified. Herein, we report five children, belonging to independent families, with JS: they shared the same typical MRI abnormality, known as molar tooth sign, but had an otherwise quite variable phenotype, regarding mostly their cognitive performance, visual abilities and extra-neurological compromise. (author)

Legibility Evaluation with Oculomotor Analysis

Science.gov (United States)

Saito, Daisuke; Saito, Keiichi; Saito, Masao

Web page legibility is important because of WWW dissemination and color combinations between a foreground and a background are the crucial factors to provide sufficient legibility. In our previous studies, the visibilities of several web-safe color combinations were examined using a psychological method. In those studies, simple stimuli were used because of experimental restriction. In this study, legibility of sentences on Web sites was examined using a psychophisiological method by oculomotor and the effect of the achromatic color combinations, that is contrast, was examined with calculated reading time. The presentation stimuli were positive coloration whose font color luminance is lower than background color, and negative coloration whose font color luminance is higher than background color. And the number of characters per line in each page was arranged in the same number, and the four achromatic colors that is, the contrast between the background color and font color are 92.5, 75.0, 50.0 and 25.0 percent, were examined. As the results, it was shown that reading time of became long when the contrast. However, in the negative coloration, there were great differences between individuals. Therefore, considering web accessibility, the legibility is found to be useful for using a positive coloration.

Altered resting-state network connectivity in stroke patients with and without apraxia of speech

OpenAIRE

New, Anneliese B.; Robin, Donald A.; Parkinson, Amy L.; Duffy, Joseph R.; McNeil, Malcom R.; Piguet, Olivier; Hornberger, Michael; Price, Cathy J.; Eickhoff, Simon B.; Ballard, Kirrie J.

2015-01-01

Motor speech disorders, including apraxia of speech (AOS), account for over 50% of the communication disorders following stroke. Given its prevalence and impact, and the need to understand its neural mechanisms, we used resting state functional MRI to examine functional connectivity within a network of regions previously hypothesized as being associated with AOS (bilateral anterior insula (aINS), inferior frontal gyrus (IFG), and ventral premotor cortex (PM)) in a group of 32 left hemisphere ...

Retrospective Parent Report of Early Vocal Behaviours in Children with Suspected Childhood Apraxia of Speech (sCAS)

Science.gov (United States)

Highman, Chantelle; Hennessey, Neville; Sherwood, Mellanie; Leitao, Suze

2008-01-01

Parents of children with suspected Childhood Apraxia of Speech (sCAS, n = 20), Specific Language Impairment (SLI, n = 20), and typically developing speech and language skills (TD, n = 20) participated in this study, which aimed to quantify and compare reports of early vocal development. Via a questionnaire, parents reported on their child's early…

An Electropalatographic Investigation of Linguopalatal Contact in Participants with Acquired Apraxia of Speech: A Quantitative and Qualitative Analysis

Science.gov (United States)

Bartle-Meyer, Carly J.; Murdoch, Bruce E.; Goozee, Justine V.

2009-01-01

The current study aimed to provide a comprehensive analysis of linguopalatal contact patterns in participants with acquired apraxia of speech (AOS). Tongue-to-palate contacts were recorded for three participants with AOS during consonant singletons and consonant clusters using the Reading Electropalatograph (EPG3) system. Amount and pattern of…

Auditory Masking Effects on Speech Fluency in Apraxia of Speech and Aphasia: Comparison to Altered Auditory Feedback

Science.gov (United States)

Jacks, Adam; Haley, Katarina L.

2015-01-01

Purpose: To study the effects of masked auditory feedback (MAF) on speech fluency in adults with aphasia and/or apraxia of speech (APH/AOS). We hypothesized that adults with AOS would increase speech fluency when speaking with noise. Altered auditory feedback (AAF; i.e., delayed/frequency-shifted feedback) was included as a control condition not…

Brain damage associated with apraxia of speech: evidence from case studies.

Science.gov (United States)

Moser, Dana; Basilakos, Alexandra; Fillmore, Paul; Fridriksson, Julius

2016-08-01

The site of crucial damage that causes acquired apraxia of speech (AOS) has been debated in the literature. This study presents five in-depth cases that offer insight into the role of brain areas involved in AOS. Four of the examined participants had a primary impairment of AOS either with (n = 2) or without concomitant mild aphasia (n = 2). The fifth participant presented with a lesion relatively isolated to the left anterior insula (AIns-L), damage that is rarely reported in the literature, but without AOS. Taken together, these cases challenge the role of the AIns-L and implicate the left motor regions in AOS.

Acquired Apraxia of Speech: The Effects of Repeated Practice and Rate/Rhythm Control Treatments on Sound Production Accuracy

Science.gov (United States)

Wambaugh, Julie L.; Nessler, Christina; Cameron, Rosalea; Mauszycki, Shannon C.

2012-01-01

Purpose: This investigation was designed to elucidate the effects of repeated practice treatment on sound production accuracy in individuals with apraxia of speech (AOS) and aphasia. A secondary purpose was to determine if the addition of rate/rhythm control to treatment provided further benefits beyond those achieved with repeated practice.…

A Diagnostic Marker to Discriminate Childhood Apraxia of Speech from Speech Delay: IV. the Pause Marker Index

Science.gov (United States)

Shriberg, Lawrence D.; Strand, Edythe A.; Fourakis, Marios; Jakielski, Kathy J.; Hall, Sheryl D.; Karlsson, Heather B.; Mabie, Heather L.; McSweeny, Jane L.; Tilkens, Christie M.; Wilson, David L.

2017-01-01

Purpose: Three previous articles provided rationale, methods, and several forms of validity support for a diagnostic marker of childhood apraxia of speech (CAS), termed the pause marker (PM). Goals of the present article were to assess the validity and stability of the PM Index (PMI) to scale CAS severity. Method: PM scores and speech, prosody,…

Speech Planning Happens before Speech Execution: Online Reaction Time Methods in the Study of Apraxia of Speech

Science.gov (United States)

Maas, Edwin; Mailend, Marja-Liisa

2012-01-01

Purpose: The purpose of this article is to present an argument for the use of online reaction time (RT) methods to the study of apraxia of speech (AOS) and to review the existing small literature in this area and the contributions it has made to our fundamental understanding of speech planning (deficits) in AOS. Method: Following a brief…

Delayed Onset of Isolated Unilateral Oculomotor Nerve Palsy Caused by Post-Traumatic Pituitary Apoplexy: A Case Report

Directory of Open Access Journals (Sweden)

Tomoki Ishigaki

2017-09-01

Full Text Available Post-traumatic pituitary apoplexy is uncommon, most of which present with a sudden onset of severe headache and visual impairments associated with a dumbbell-shaped pituitary tumor. We experienced an unusual case of post-traumatic pituitary apoplexy with atypical clinical features. A 66-year-old man presented with mild cerebral contusion and an incidentally diagnosed intrasellar tumor after a fall accident with no loss of consciousness. The patients denied any symptoms before the accident. After 4 days, the left oculomotor nerve palsy developed and deteriorated associated with no severe headache. Repeated neuroimages suggested that pituitary apoplexy had occurred at admission and showed that the tumor compressed the left cavernous sinus. The patient underwent endonasal transsphenoidal surgery at 6 days after head injury, and the mass reduction improved the oculomotor nerve palsy completely within the following 14 days. The pathologic diagnosis was nonfunctioning pituitary adenoma with hemorrhage and necrosis.

Functional rehabilitation of upper limb apraxia in poststroke patients: study protocol for a randomized controlled trial

OpenAIRE

P?rez-M?rmol, Jose Manuel; Garc?a-R?os, M? Carmen; Barrero-Hernandez, Francisco J.; Molina-Torres, Guadalupe; Brown, Ted; Aguilar-Ferr?ndiz, Mar?a Encarnaci?n

2015-01-01

Background Upper limb apraxia is a common disorder associated with stroke that can reduce patients? independence levels in activities of daily living and increase levels of disability. Traditional rehabilitation programs designed to promote the recovery of upper limb function have mainly focused on restorative or compensatory approaches. However, no previous studies have been completed that evaluate a combined intervention method approach, where patients concurrently receive cognitive trainin...

Measuring disabilities in stroke patients with apraxia: a validation study of an observational method.

OpenAIRE

Heugten, C.M. van; Dekker, J.; Deelman, B.G.; Dijk, A.J. van; Stehmann-Saris, F.C.; Kinebanian, A.

2000-01-01

The objective of the present study was to determine the clinical and construct validity of the assessment of disabilities in stroke patients with apraxia. Disabilities were assessed by means of observation of activities of daily living (ADL), such as washing the face and upper body and putting on a blouse or shirt. The study was carried out at occupational therapy departments in general hospitals, rehabilitation centres, and nursing homes. Patients diagnosed to have had a stroke in the left h...

Timing Errors in Two Children with Suspected Childhood Apraxia of Speech (sCAS) during Speech and Music-Related Tasks

Science.gov (United States)

Peter, Beate; Stoel-Gammon, Carol

2005-01-01

Impaired speech prosody has been identified as a critical feature of suspected childhood apraxia of speech (sCAS). Lexical stress productions of children with sCAS have been characterized as 'excessive/equal/misplaced'. This investigation examines two potential explanations of this particular deficit, articulatory difficulty and impaired intrinsic…

Effects of Feedback Frequency and Timing on Acquisition, Retention, and Transfer of Speech Skills in Acquired Apraxia of Speech

Science.gov (United States)

Hula, Shannon N. Austermann; Robin, Donald A.; Maas, Edwin; Ballard, Kirrie J.; Schmidt, Richard A.

2008-01-01

Purpose: Two studies examined speech skill learning in persons with apraxia of speech (AOS). Motor-learning research shows that delaying or reducing the frequency of feedback promotes retention and transfer of skills. By contrast, immediate or frequent feedback promotes temporary performance enhancement but interferes with retention and transfer.…

Post-stroke pure apraxia of speech - A rare experience.

Science.gov (United States)

Polanowska, Katarzyna Ewa; Pietrzyk-Krawczyk, Iwona

Apraxia of speech (AOS) is a motor speech disorder, most typically caused by stroke, which in its "pure" form (without other speech-language deficits) is very rare in clinical practice. Because some observable characteristics of AOS overlap with more common verbal communication neurologic syndromes (i.e. aphasia, dysarthria) distinguishing them may be difficult. The present study describes AOS in a 49-year-old right-handed male after left-hemispheric stroke. Analysis of his articulatory and prosodic abnormalities in the context of intact communicative abilities as well as description of symptoms dynamics over time provides valuable information for clinical diagnosis of this specific disorder and prognosis for its recovery. This in turn is the basis for the selection of appropriate rehabilitative interventions. Copyright © 2016 Polish Neurological Society. Published by Elsevier Urban & Partner Sp. z o.o. All rights reserved.

Influence of intensive phonomotor rehabilitation on apraxia of speech.

Science.gov (United States)

Kendall, Diane L; Rodriguez, Amy D; Rosenbek, John C; Conway, Tim; Gonzalez Rothi, Leslie J

2006-01-01

In this phase I rehabilitation study, we investigated the effects of an intensive phonomotor rehabilitation program on verbal production in a 73-year-old male, 11 years postonset a left-hemisphere stroke, who exhibited apraxia of speech and aphasia. In the context of a single-subject design, we studied whether treatment would improve phoneme production and generalize to repetition of multisyllabic words, words of increasing length, discourse, and measures of self-report. We predicted that a predominant motor impairment would respond to intensive phonomotor rehabilitation. While able to learn to produce individual sounds, the subject did not exhibit generalization to other aspects of motor production. Discourse production was judged perceptually slower in rate and less effortful, but also less natural. Finally, self-report indicated less apprehension toward speaking with unfamiliar people, increased telephone use, and increased ease of communication.

Whole-Exome Sequencing Identifies Homozygous AFG3L2 Mutations in a Spastic Ataxia-Neuropathy Syndrome Linked to Mitochondrial m-AAA Proteases

Science.gov (United States)

Martinelli, Paola; Cherukuri, Praveen F.; Teer, Jamie K.; Hansen, Nancy F.; Cruz, Pedro; Mullikin for the NISC Comparative Sequencing Program, James C.; Blakesley, Robert W.; Golas, Gretchen; Kwan, Justin; Sandler, Anthony; Fuentes Fajardo, Karin; Markello, Thomas; Tifft, Cynthia; Blackstone, Craig; Rugarli, Elena I.; Langer, Thomas; Gahl, William A.; Toro, Camilo

2011-01-01

We report an early onset spastic ataxia-neuropathy syndrome in two brothers of a consanguineous family characterized clinically by lower extremity spasticity, peripheral neuropathy, ptosis, oculomotor apraxia, dystonia, cerebellar atrophy, and progressive myoclonic epilepsy. Whole-exome sequencing identified a homozygous missense mutation (c.1847G>A; p.Y616C) in AFG3L2, encoding a subunit of an m-AAA protease. m-AAA proteases reside in the mitochondrial inner membrane and are responsible for removal of damaged or misfolded proteins and proteolytic activation of essential mitochondrial proteins. AFG3L2 forms either a homo-oligomeric isoenzyme or a hetero-oligomeric complex with paraplegin, a homologous protein mutated in hereditary spastic paraplegia type 7 (SPG7). Heterozygous loss-of-function mutations in AFG3L2 cause autosomal-dominant spinocerebellar ataxia type 28 (SCA28), a disorder whose phenotype is strikingly different from that of our patients. As defined in yeast complementation assays, the AFG3L2Y616C gene product is a hypomorphic variant that exhibited oligomerization defects in yeast as well as in patient fibroblasts. Specifically, the formation of AFG3L2Y616C complexes was impaired, both with itself and to a greater extent with paraplegin. This produced an early-onset clinical syndrome that combines the severe phenotypes of SPG7 and SCA28, in additional to other “mitochondrial” features such as oculomotor apraxia, extrapyramidal dysfunction, and myoclonic epilepsy. These findings expand the phenotype associated with AFG3L2 mutations and suggest that AFG3L2-related disease should be considered in the differential diagnosis of spastic ataxias. PMID:22022284

Whole-exome sequencing identifies homozygous AFG3L2 mutations in a spastic ataxia-neuropathy syndrome linked to mitochondrial m-AAA proteases.

Directory of Open Access Journals (Sweden)

Tyler Mark Pierson

2011-10-01

Full Text Available We report an early onset spastic ataxia-neuropathy syndrome in two brothers of a consanguineous family characterized clinically by lower extremity spasticity, peripheral neuropathy, ptosis, oculomotor apraxia, dystonia, cerebellar atrophy, and progressive myoclonic epilepsy. Whole-exome sequencing identified a homozygous missense mutation (c.1847G>A; p.Y616C in AFG3L2, encoding a subunit of an m-AAA protease. m-AAA proteases reside in the mitochondrial inner membrane and are responsible for removal of damaged or misfolded proteins and proteolytic activation of essential mitochondrial proteins. AFG3L2 forms either a homo-oligomeric isoenzyme or a hetero-oligomeric complex with paraplegin, a homologous protein mutated in hereditary spastic paraplegia type 7 (SPG7. Heterozygous loss-of-function mutations in AFG3L2 cause autosomal-dominant spinocerebellar ataxia type 28 (SCA28, a disorder whose phenotype is strikingly different from that of our patients. As defined in yeast complementation assays, the AFG3L2(Y616C gene product is a hypomorphic variant that exhibited oligomerization defects in yeast as well as in patient fibroblasts. Specifically, the formation of AFG3L2(Y616C complexes was impaired, both with itself and to a greater extent with paraplegin. This produced an early-onset clinical syndrome that combines the severe phenotypes of SPG7 and SCA28, in additional to other "mitochondrial" features such as oculomotor apraxia, extrapyramidal dysfunction, and myoclonic epilepsy. These findings expand the phenotype associated with AFG3L2 mutations and suggest that AFG3L2-related disease should be considered in the differential diagnosis of spastic ataxias.

Speech Inconsistency in Children with Childhood Apraxia of Speech, Language Impairment, and Speech Delay: Depends on the Stimuli

Science.gov (United States)

Iuzzini-Seigel, Jenya; Hogan, Tiffany P.; Green, Jordan R.

2017-01-01

Purpose: The current research sought to determine (a) if speech inconsistency is a core feature of childhood apraxia of speech (CAS) or if it is driven by comorbid language impairment that affects a large subset of children with CAS and (b) if speech inconsistency is a sensitive and specific diagnostic marker that can differentiate between CAS and…

The Relationship between Articulatory Control and Improved Phonemic Accuracy in Childhood Apraxia of Speech: A Longitudinal Case Study

Science.gov (United States)

Grigos, Maria I.; Kolenda, Nicole

2010-01-01

Jaw movement patterns were examined longitudinally in a 3-year-old male with childhood apraxia of speech (CAS) and compared with a typically developing control group. The child with CAS was followed for 8 months, until he began accurately and consistently producing the bilabial phonemes /p/, /b/, and /m/. A movement tracking system was used to…

An EMA Analysis of the Effect of Increasing Word Length on Consonant Production in Apraxia of Speech: A Case Study

Science.gov (United States)

Bartle, Carly J.; Goozee, Justine V.; Murdoch, Bruce E.

2007-01-01

The effect of increasing word length on the articulatory dynamics (i.e. duration, distance, maximum acceleration, maximum deceleration, and maximum velocity) of consonant production in acquired apraxia of speech was investigated using electromagnetic articulography (EMA). Tongue-tip and tongue-back movement of one apraxic patient was recorded…

Transfer of training effects in stroke patients with apraxia: an exploratory study.

Science.gov (United States)

Geusgens, Chantal; van Heugten, Caroline; Donkervoort, Mireille; van den Ende, Els; Jolles, Jelle; van den Heuvel, Wim

2006-04-01

The goal of the present study was to examine the transfer of the effects of cognitive strategy training for stroke patients with apraxia from trained to non-trained tasks. In strategy training, the occurrence of transfer is expected as the training programme is aimed, not at relearning specific tasks, but at teaching patients new ways to handle the problems resulting from the impairment. Exploratory analyses were conducted on data previously collected in a randomised controlled trial on the efficacy of the strategy training. A total of 113 left hemisphere stroke patients were randomly assigned to a strategy training group and a group receiving occupational therapy as usual. Assessment of apraxia, motor functioning and activities of daily living (ADL) took place at baseline, after an eight-week treatment period, and five months after baseline. The primary outcome measure consisted of standardised ADL observations of trained and non-trained tasks. The analyses showed that in both treatment groups, the scores on the ADL observations for non-trained tasks improved significantly after eight weeks of training as compared with the baseline score. Change scores of non-trained activities were larger in the strategy training group as compared with the usual treatment group. By using previously collected data we are able to illustrate the potential transfer of treatment effects in a large sample of stroke patients. We found indications for the occurrence of transfer, although the study was not originally designed for the purpose of evaluating transfer. Therefore these results are worth exploring more profoundly. We will further investigate our preliminary conclusions in a new prospective study which is specifically designed to examine the transfer of training effects.

A Diagnostic Marker to Discriminate Childhood Apraxia of Speech from Speech Delay: II. Validity Studies of the Pause Marker

Science.gov (United States)

Shriberg, Lawrence D.; Strand, Edythe A.; Fourakis, Marios; Jakielski, Kathy J.; Hall, Sheryl D.; Karlsson, Heather B.; Mabie, Heather L.; McSweeny, Jane L.; Tilkens, Christie M.; Wilson, David L.

2017-01-01

Purpose: The purpose of this 2nd article in this supplement is to report validity support findings for the Pause Marker (PM), a proposed single-sign diagnostic marker of childhood apraxia of speech (CAS). Method: PM scores and additional perceptual and acoustic measures were obtained from 296 participants in cohorts with idiopathic and…

Apraxia of Speech and Phonological Errors in the Diagnosis of Nonfluent/Agrammatic and Logopenic Variants of Primary Progressive Aphasia

Science.gov (United States)

Croot, Karen; Ballard, Kirrie; Leyton, Cristian E.; Hodges, John R.

2012-01-01

Purpose: The International Consensus Criteria for the diagnosis of primary progressive aphasia (PPA; Gorno-Tempini et al., 2011) propose apraxia of speech (AOS) as 1 of 2 core features of nonfluent/agrammatic PPA and propose phonological errors or absence of motor speech disorder as features of logopenic PPA. We investigated the sensitivity and…

The Progression of Posterior Cortical Atrophy to Corticobasal Syndrome: Lumping or Splitting Neurodegenerative Diseases?

Directory of Open Access Journals (Sweden)

Maurizio Giorelli

2014-06-01

Full Text Available Background: Posterior cortical atrophy is a clinical syndrome that is characterized by the progressive loss of visuospatial integration and is associated with neurodegenerative conditions.Case Report: We describe a 60‐year‐old female with simultanagnosia, oculomotor apraxia, and optic ataxia for which she received an initial clinical diagnosis of posterior cortical atrophy. Three years later, she developed Balint's syndrome, Gerstmann's syndrome, left alien hand syndrome, smooth asymmetric (left rigidity, cortical sensory loss, and spontaneous myoclonic jerks of the left arm, which suggested a final diagnosis of corticobasal syndrome.Discussion: This case report indicates that corticobasal syndrome may present with visuospatial deficits.

The association of congenital neuroblastoma and congenital heart disease

International Nuclear Information System (INIS)

Bellah, R.; D'Andrea, A.; Children's Hospital, Boston, MA; Darillis, E.; Fellows, K.E.

1989-01-01

Several authors have reported an association between neuroblastoma and congenital heart disease; others contend that, unlike specific wellknown associations between malignancy and congenital defects (Wilm's tumor and aniridia, leukemia and Down's syndrome), no real relationship exists. We present three cases of cyanotic congenital heart disease in which subclinical neuroblastoma was found. We speculate that abnormal neural crest cell migration and development may be a common link between cardiac malformations and congenital neuroblastoma. (orig.)

The neuroanatomy of pure apraxia of speech in stroke.

Science.gov (United States)

Graff-Radford, Jonathan; Jones, David T; Strand, Edythe A; Rabinstein, Alejandro A; Duffy, Joseph R; Josephs, Keith A

2014-02-01

The left insula or Broca's area have been proposed as the neuroanatomical correlate for apraxia of speech (AOS) based on studies of patients with both AOS and aphasia due to stroke. Studies of neurodegenerative AOS suggest the premotor area and the supplementary motor areas as the anatomical correlates. The study objective was to determine the common infarction area in patients with pure AOS due to stroke. Patients with AOS and no or equivocal aphasia due to ischemic stroke were identified through a pre-existing database. Seven subjects were identified. Five had pure AOS, and two had equivocal aphasia. MRI lesion analysis revealed maximal overlap spanning the left premotor and motor cortices. While both neurodegenerative AOS and stroke induced pure AOS involve the premotor cortex, further studies are needed to establish whether stroke-induced AOS and neurodegenerative AOS share a common anatomic substrate. Copyright © 2014 Elsevier Inc. All rights reserved.

A phenotype of atypical apraxia of speech in a family carrying SQSTM1 mutation.

Science.gov (United States)

Boutoleau-Bretonnière, Claire; Camuzat, Agnès; Le Ber, Isabelle; Bouya-Ahmed, Kawtar; Guerreiro, Rita; Deruet, Anne-Laure; Evrard, Christelle; Bras, José; Lamy, Estelle; Auffray-Calvier, Elisabeth; Pallardy, Amandine; Hardy, John; Brice, Alexis; Derkinderen, Pascal; Vercelletto, Martine

2015-01-01

SQSTM1 mutations, coding for the p62 protein, were identified as a monogenic cause of Paget disease of bone and of amyotrophic lateral sclerosis. More recently, SQSTM1 mutations were identified in few families with frontotemporal dementia. We report a new family carrying SQSTM1 mutation and presenting with a clinical phenotype of speech apraxia or atypical behavioral disorders, associated with early visuo-contructional deficits. This study further supports the implication of SQSTM1 in frontotemporal dementia, and enlarges the phenotypic spectrum associated with SQSTM1 mutations.

Deficits in Sequential Processing Manifest in Motor and Linguistic Tasks in a Multigenerational Family with Childhood Apraxia of Speech

Science.gov (United States)

Peter, Beate; Button, Le; Stoel-Gammon, Carol; Chapman, Kathy; Raskind, Wendy H.

2013-01-01

The purpose of this study was to evaluate a global deficit in sequential processing as candidate endophenotypein a family with familial childhood apraxia of speech (CAS). Of 10 adults and 13 children in a three-generational family with speech sound disorder (SSD) consistent with CAS, 3 adults and 6 children had past or present SSD diagnoses. Two…

Speech Motor Control in Fluent and Dysfluent Speech Production of an Individual with Apraxia of Speech and Broca's Aphasia

Science.gov (United States)

van Lieshout, Pascal H. H. M.; Bose, Arpita; Square, Paula A.; Steele, Catriona M.

2007-01-01

Apraxia of speech (AOS) is typically described as a motor-speech disorder with clinically well-defined symptoms, but without a clear understanding of the underlying problems in motor control. A number of studies have compared the speech of subjects with AOS to the fluent speech of controls, but only a few have included speech movement data and if…

Early assessment of oculomotor behavior in infants with bronchopulmonarydysplasia: A transversal study

Directory of Open Access Journals (Sweden)

Silvana Alves Pereira

2015-06-01

Full Text Available Background: In Brazil, where there are difficulties in accessing health services, the increasing number of comorbidities in preterm survivors diagnosed with bronchopulmonary dysplasia (BPD necessitate the creation of a tool to effectively evaluate aspects of visual function in a short time. The objective of this study was to develop a simple protocol to evaluate the oculomotor system in newborns with BPD. Methods: Our study compared two groups of preterm-born infants: those who were oxygen-dependent for longer than 28 days were included in the BPD group (BG, while babies given oxygen for a maximum of 10 days were included in the premature group (PG. Exclusion criteria were: babies under mechanical ventilation and/or vasoactive drugs, those with intracranial hemorrhage, retinopathy of prematurity, motor and/or neurological malformation. Assessments were performed while the baby was comfortably seated and evaluated four eye movement types: saccadic movements (SAC, smooth pursuit (SP, vestibulo-ocular reflex (VOR, and optokinetic nystagmus (OKN. Results: Fifty-two infants were evaluated and of these, 22 were included in the BPD group and 30 in the premature group. Birth weight, gestational age and Apgar score at one and five minutes did not differ significantly between the two groups. Infants with BPD demonstrated the absence of three of the four eye movements types; according to a Chi-square test, this was statistically significant when compared with the premature group. Conclusions: The protocol considered in this study was sufficient to evaluate the oculomotor system in newborns diagnosed with BPD. Ocular motility in these infants was found to be impaired when compared to babies without a BPD diagnosis.

Tools for the assessment of childhood apraxia of speech.

Science.gov (United States)

Gubiani, Marileda Barichello; Pagliarin, Karina Carlesso; Keske-Soares, Marcia

2015-01-01

This study systematically reviews the literature on the main tools used to evaluate childhood apraxia of speech (CAS). The search strategy includes Scopus, PubMed, and Embase databases. Empirical studies that used tools for assessing CAS were selected. Articles were selected by two independent researchers. The search retrieved 695 articles, out of which 12 were included in the study. Five tools were identified: Verbal Motor Production Assessment for Children, Dynamic Evaluation of Motor Speech Skill, The Orofacial Praxis Test, Kaufman Speech Praxis Test for Children, and Madison Speech Assessment Protocol. There are few instruments available for CAS assessment and most of them are intended to assess praxis and/or orofacial movements, sequences of orofacial movements, articulation of syllables and phonemes, spontaneous speech, and prosody. There are some tests for assessment and diagnosis of CAS. However, few studies on this topic have been conducted at the national level, as well as protocols to assess and assist in an accurate diagnosis.

[A case with apraxia of tool use: selective inability to form a hand posture for a tool].

Science.gov (United States)

Hayakawa, Yuko; Fujii, Toshikatsu; Yamadori, Atsushi; Meguro, Kenichi; Suzuki, Kyoko

2015-03-01

Impaired tool use is recognized as a symptom of ideational apraxia. While many studies have focused on difficulties in producing gestures as a whole, using tools involves several steps; these include forming hand postures appropriate for the use of certain tool, selecting objects or body parts to act on, and producing gestures. In previously reported cases, both producing and recognizing hand postures were impaired. Here we report the first case showing a selective impairment of forming hand postures appropriate for tools with preserved recognition of the required hand postures. A 24-year-old, right-handed man was admitted to hospital because of sensory impairment of the right side of the body, mild aphasia, and impaired tool use due to left parietal subcortical hemorrhage. His ability to make symbolic gestures, copy finger postures, and orient his hand to pass a slit was well preserved. Semantic knowledge for tools and hand postures was also intact. He could flawlessly select the correct hand postures in recognition tasks. He only demonstrated difficulties in forming a hand posture appropriate for a tool. Once he properly grasped a tool by trial and error, he could use it without hesitation. These observations suggest that each step of tool use should be thoroughly examined in patients with ideational apraxia.

A Diagnostic Marker to Discriminate Childhood Apraxia of Speech from Speech Delay: I. Development and Description of the Pause Marker

Science.gov (United States)

Shriberg, Lawrence D.; Strand, Edythe A.; Fourakis, Marios; Jakielski, Kathy J.; Hall, Sheryl D.; Karlsson, Heather B.; Mabie, Heather L.; McSweeny, Jane L.; Tilkens, Christie M.; Wilson, David L.

2017-01-01

Purpose: The goal of this article (PM I) is to describe the rationale for and development of the Pause Marker (PM), a single-sign diagnostic marker proposed to discriminate early or persistent childhood apraxia of speech from speech delay. Method: The authors describe and prioritize 7 criteria with which to evaluate the research and clinical…

A longitudinal study of motor, oculomotor and cognitive function in progressive supranuclear palsy.

Directory of Open Access Journals (Sweden)

Boyd C P Ghosh

Full Text Available We studied the annual change in measures of motor, oculomotor and cognitive function in progressive supranuclear palsy. This had twin objectives, to assess the potential for clinical parameters to monitor disease progression in clinical trials and to illuminate the progression of pathophysiology.Twenty three patients with progressive supranuclear palsy (Richardson's syndrome were compared to 22 matched controls at baseline and 16 of these patients compared at baseline and one year using: the progressive supranuclear palsy rating scale; the unified Parkinson's disease rating scale; the revised Addenbrooke's cognitive examination; the frontal assessment battery; the cubes section of the visual object and space perception battery; the Hayling and Brixton executive tests; and saccadic latencies.Patients were significantly impaired in all domains at baseline. However, cognitive performance was maintained over a year on the majority of tests. The unified Parkinson's disease rating scale, saccadic latency and progressive supranuclear palsy rating scale deteriorated over a year, with the latter showing the largest change. Power estimates indicate that using the progressive supranuclear palsy rating scale as an outcome measure in a clinical trial would require 45 patients per arm, to identify a 50% reduction in rate of decline with 80% power.Motor, oculomotor and cognitive domains deteriorate at different rates in progressive supranuclear palsy. This may be due to differential degeneration of their respective cortical-subcortical circuits, and has major implications for the selection of outcome measures in clinical trials due to wide variation in sensitivity to annual rates of decline.

A 58-year-old female with blurred vision and apraxia

Directory of Open Access Journals (Sweden)

Zhi-hong SHI

2014-07-01

Full Text Available A 58-year-old right handed woman, with 12 years of formal education, had a five-year history of slowly progressive blurred vision and apraxia. Five years before the examination she gradually became blurred vision and had difficulties identifying static objects within the visual field. Then she went to an ophthalmologist and received cataract surgery. However, the symptoms were not improved after surgery. Two years later, she had difficulty doing household chores and was unable to dress herself. She developed an anxiety disorder in the absence of prominent language or memory deficits. Five years after onset, she showed global cognitive decline and abilities of daily life decline. On neurological examination she was alert. Neuropsychological testing revealed a mini-mental state examination (MMSE score of 20/30 with anomia, agraphia, alexia and partial impairment on time orientation. Biochemical investigations for disorders involving thyroid function, vitamin B12, and folate were unremarkable. A brain MRI showed diffuse cortical atrophy and hippocampus atrophy. An 18F-FDG PET scan showed bilateral hypometabolism at the frontal lobes, tempoparietooccipital adjunction, posterior cingulate cortices and precuneus, insular lobes, caudate nuclei and right thalamus. An 11C-PIB PET scan showed bilateral amyloid deposits at bilateral frontal lobes and occipital lobes, left temporal lobe and insular, basal ganglia, bilateral cingulate cortices and precuneus. No PSEN1, PSEN2 or APP mutations were identified. This early-onset patient had an unusual cognitive complaint, including visual agnosia and apraxia. The clinical features, structural and functional imaging findings of this case were compatible with the diagnosis of Posterior Cortical Atrophy (PCA. PCA is a neurodegenerative condition characterized by a progressive, often dramatic and relatively selective decline in visual processing skills and other functions subserved by parietal, occipital and

Estimation of the multidimensional transient functions oculo-motor system of human

Science.gov (United States)

Pavlenko, Vitaliy; Salata, Dmytro; Dombrovskyi, Mykola; Maksymenko, Yuri

2017-09-01

Proposed a new method of constructing nonparametric dynamic models of the oculomotor system system (OMS) in the form of human multidimensional transition functions on the basis of experimental data "input-output". As the test signals used bright points on the long duration of the computer screen. OMS response is measured using information technology Eye-tracking and recorded on video. As a result data processing of the experiment we receive function based "pupil coordinate - time". Using the method of least squares (Ordinary Least Squares, OLS) defined transition functions of the first, second and third order - integral transformations of Volterra kernels, representing a model of OMS. Completed experimental studies using computer simulations confirm the adequacy of the constructed approximation model as a real system.

Oculomotor capture by colour singletons depends on intertrial priming.

Science.gov (United States)

Becker, Stefanie I

2010-10-12

In visual search, an irrelevant colour singleton captures attention when the colour of the distractor changes across trials (e.g., from red to green), but not when the colour remains constant (Becker, 2007). The present study shows that intertrial changes of the distractor colour also modulate oculomotor capture: an irrelevant colour singleton distractor was only selected more frequently than the inconspicuous nontargets (1) when its features had switched (compared to the previous trial), or (2) when the distractor had been presented at the same position as the target on the previous trial. These results throw doubt on the notion that colour distractors capture attention and the eyes because of their high feature contrast, which is available at an earlier point in time than information about specific feature values. Instead, attention and eye movements are apparently controlled by a system that operates on feature-specific information, and gauges the informativity of nominally irrelevant features. Copyright © 2010 Elsevier Ltd. All rights reserved.

Actividades para la corrección de la apraxia constructiva en pacientes con secuelas de enfermedad cerebro-vascular = Activities for the correction of constructive apraxia in patients with sequels of brain-vascular illness

Directory of Open Access Journals (Sweden)

Torres Aguilar, Maydane

2008-09-01

Full Text Available RESUMENObjetivo: Evaluar un sistema de actividades realizadas para la corrección y compensación de la apraxia constructiva después de la exploración neuropsicológica. Método: Con el propósito de evaluar este sistema de actividades, se realizó un estudio prospectivo experimental con 15 pacientes que permanecieron en el Centro Internacional de Investigaciones y Restauración Neurológica (CIREN durante un período de 54 días que recibieron tratamiento defectológico (Terapia Ocupacional diario. En consecuencia se aplicó una escala evaluativa pre y post-intervención terapéutica comparándose los resultados.Resultados: A través de la escala de puntaje aplicada se obtuvo un incremento de recuperación en cuanto a la realización de las actividades sin niveles de ayuda ni modelos previos de un 93,4% post-intervención, como promedio, en los pacientes analizados.Conclusiones: Se observó una mejor asociación entre la idea del movimiento y la ejecución motora así como entre la percepción visual y la acción apropiada, después de la intervención.SUMMARYA great number of patients with Encephalic Static Lesions suffer psychic and motor alterations that avoid him to develop it more usually possible in his social environment. One of the psychic alterations that are frequently presented is the constructive apraxia which can appear in different grades, depending among other factors, of the severity of the damage. This unchains difficulties that go from the less complex, as the reproduction of drawings until others of more complexity like daily basic activities. Objectives: Evaluate system of activities for correction and/or compensation the constructive apraxia after neuro-psychological exploration. Methods and Material: With the proposal to check the effectiveness of this system of activities we carry out a prospective and experimental study with 15 patients that were in CIREN (International Centre of Research and Neurological Restoration

Diagnostic Distortions: A Case Report of Progressive Apraxia of Speech.

Science.gov (United States)

Brodtmann, Amy; Pemberton, Hugh; Darby, David; Vogel, Adam P

2016-04-19

Apraxia of speech (AOS) can be the presenting symptom of neurodegenerative disease. The position of primary progressive AOS in the nosology of the dementias is still controversial. Despite seeing many specialists, patients are often misdiagnosed, in part due to a lack of quantitative measures of speech dysfunction. We present a single case report of a patient presenting with AOS, including acoustic analysis, language assessment, and brain imaging. A 52-year-old woman presenting with AOS had remained undiagnosed for 6 years despite seeing 8 specialists. Results of her MRI scans, genetic testing, and computerized speech analysis are provided. AOS is an underdiagnosed clinical syndrome causing great distress to patients and families. Using acoustic analysis of speech may lead to improved diagnostic accuracy. AOS is a complex entity with an expanding phenotype, and quantitative clinical measures will be critical for detection and to assess progression.

Acoustic and Perceptual Correlates of Stress in Nonwords Produced by Children with Suspected Developmental Apraxia of Speech and Children with Phonological Disorder.

Science.gov (United States)

Munson, Benjamin; Bjorum, Elissa M.; Windsor, Jennifer

2003-01-01

This study examined whether accuracy in producing linguistic stress reliably distinguished between five children with suspected developmental apraxia of speech (sDAS) and five children with phonological disorder (PD). No group differences in the production of stress were found; however, listeners judged that nonword repetitions of the children…

How plantar exteroceptive efficiency modulates postural and oculomotor control: inter-individual variability

Directory of Open Access Journals (Sweden)

Arnaud eFoisy

2016-05-01

Full Text Available In a previous experiment, we showed that among young and healthy subjects, thin plantar inserts improve postural control and modify vergence amplitudes. In this experiment, however, significant inter-individual variability was observed. We hypothesize that its origin could be attributed to a different reliance upon feet cutaneous afferents. In order to test this hypothesis, we re-analyzed the data relative to 31 young (age 25,7±3,8 and healthy subjects who participated in the first experiment after having classified them into two groups depending on their Plantar Quotient (PQ = Surface area of CoP foam / Surface area of CoP firm ground x100. Foam decreases the information arising from the feet, normally resulting in a PQ>100. Hence, the PQ provides information on the weight of plantar cutaneous afferents used in postural control. Twelve people were Plantar-Independent Subjects, as indicated by a PQ<100. These individuals did not behave like the Normal Plantar Quotient Subjects: they were almost insensitive to the plantar stimulations in terms of postural control and totally insensitive in terms of oculomotor control. We conclude that the inter-individual variability observed in our first experiment is explained by the subjects’ degree of plantar reliance. We propose that plantar independence is a dysfunctional situation revealing an inefficiency in plantar cutaneous afferents. The latter could be due to a latent somatosensory dysfunction generating a noise which prevents the CNS from correctly processing and using feet somatosensory afferents both for balance and vergence control: Plantar Irritating Stimulus. Considering the non-noxious nature and prevalence of this phenomenon, these results can be of great interest to researchers and clinicians who attempt to trigger postural or oculomotor responses through mechanical stimulation of the foot sole.

An adult case of the developmental apraxia, agnosia, Gerstmann's syndrome with bilateral parieto-temporo-occipital lesions in brain CT

International Nuclear Information System (INIS)

Suzuki, Toshihito; Shiraishi, Hiroyasu; Koizumi, Junzo; Ichikawa, Tadahiko; Hayakawa, Tatsuo.

1986-01-01

A 36-year-old woman with a history of cerebral meningitis had various neuropsychological disorders, such as Gerstmann's syndrome, developmental apraxia and agnosia and difficulty in reading, in addition to moderate mental retardation and epileptoid. Cranial CT showed bilateral low-density areas with temporo-parieto-occipital extension. It seems that these lesions result from meningitis and are responsible for the occurrence of neuropsychological disorders. (Namekawa, K.)

Ptosis as partial oculomotor nerve palsy due to compression by infundibular dilatation of posterior communicating artery, visualized with three-dimensional computer graphics: case report.

Science.gov (United States)

Fukushima, Yuta; Imai, Hideaki; Yoshino, Masanori; Kin, Taichi; Takasago, Megumi; Saito, Kuniaki; Nakatomi, Hirofumi; Saito, Nobuhito

2014-01-01

Oculomotor nerve palsy (ONP) due to internal carotid-posterior communicating artery (PcomA) aneurysm generally manifests as partial nerve palsy including pupillary dysfunction. In contrast, infundibular dilatation (ID) of the PcomA has no pathogenic significance, and mechanical compression of the cranial nerve is extremely rare. We describe a 60-year-old woman who presented with progressive ptosis due to mechanical compression of the oculomotor nerve by an ID of the PcomA. Three-dimensional computer graphics (3DCG) accurately visualized the mechanical compression by the ID, and her ptosis was improved after clipping of the ID. ID of the PcomA may cause ONP by mechanical compression and is treatable surgically. 3DCG are effective for the diagnosis and preoperative simulation.

Intensive treatment with ultrasound visual feedback for speech sound errors in childhood apraxia

Directory of Open Access Journals (Sweden)

Jonathan L Preston

2016-08-01

Full Text Available Ultrasound imaging is an adjunct to traditional speech therapy that has shown to be beneficial in the remediation of speech sound errors. Ultrasound biofeedback can be utilized during therapy to provide clients additional knowledge about their tongue shapes when attempting to produce sounds that are in error. The additional feedback may assist children with childhood apraxia of speech in stabilizing motor patterns, thereby facilitating more consistent and accurate productions of sounds and syllables. However, due to its specialized nature, ultrasound visual feedback is a technology that is not widely available to clients. Short-term intensive treatment programs are one option that can be utilized to expand access to ultrasound biofeedback. Schema-based motor learning theory suggests that short-term intensive treatment programs (massed practice may assist children in acquiring more accurate motor patterns. In this case series, three participants ages 10-14 diagnosed with childhood apraxia of speech attended 16 hours of speech therapy over a two-week period to address residual speech sound errors. Two participants had distortions on rhotic sounds, while the third participant demonstrated lateralization of sibilant sounds. During therapy, cues were provided to assist participants in obtaining a tongue shape that facilitated a correct production of the erred sound. Additional practice without ultrasound was also included. Results suggested that all participants showed signs of acquisition of sounds in error. Generalization and retention results were mixed. One participant showed generalization and retention of sounds that were treated; one showed generalization but limited retention; and the third showed no evidence of generalization or retention. Individual characteristics that may facilitate generalization are discussed. Short-term intensive treatment programs using ultrasound biofeedback may result in the acquisition of more accurate motor

Classification and clinicoradiologic features of primary progressive aphasia (PPA) and apraxia of speech.

Science.gov (United States)

Botha, Hugo; Duffy, Joseph R; Whitwell, Jennifer L; Strand, Edythe A; Machulda, Mary M; Schwarz, Christopher G; Reid, Robert I; Spychalla, Anthony J; Senjem, Matthew L; Jones, David T; Lowe, Val; Jack, Clifford R; Josephs, Keith A

2015-08-01

The consensus criteria for the diagnosis and classification of primary progressive aphasia (PPA) have served as an important tool in studying this group of disorders. However, a large proportion of patients remain unclassifiable whilst others simultaneously meet criteria for multiple subtypes. We prospectively evaluated a large cohort of patients with degenerative aphasia and/or apraxia of speech using multidisciplinary clinical assessments and multimodal imaging. Blinded diagnoses were made using operational definitions with important differences compared to the consensus criteria. Of the 130 included patients, 40 were diagnosed with progressive apraxia of speech (PAOS), 12 with progressive agrammatic aphasia, 9 with semantic dementia, 52 with logopenic progressive aphasia, and 4 with progressive fluent aphasia, while 13 were unclassified. The PAOS and progressive fluent aphasia groups were least impaired. Performance on repetition and sentence comprehension was especially poor in the logopenic group. The semantic and progressive fluent aphasia groups had prominent anomia, but only semantic subjects had loss of word meaning and object knowledge. Distinct patterns of grey matter loss and white matter changes were found in all groups compared to controls. PAOS subjects had bilateral frontal grey matter loss, including the premotor and supplementary motor areas, and bilateral frontal white matter involvement. The agrammatic group had more widespread, predominantly left sided grey matter loss and white matter abnormalities. Semantic subjects had bitemporal grey matter loss and white matter changes, including the uncinate and inferior occipitofrontal fasciculi, whereas progressive fluent subjects only had left sided temporal involvement. Logopenic subjects had diffuse and bilateral grey matter loss and diffusion tensor abnormalities, maximal in the posterior temporal region. A diagnosis of logopenic aphasia was strongly associated with being amyloid positive (46

Congenital Hypothyroidism

Science.gov (United States)

... Disease Featured Resource Find an Endocrinologist Search Congenital Hypothyroidism March 2012 Download PDFs English Espanol Editors Rosalind S. ... Resources MedlinePlus (NIH) Mayo Clinic What is congenital hypothyroidism? Newborn babies who are unable to make enough ...

Clinical and morphological characteristics of malformations in infants with congenital cytomegalovirus infection and congenital toxoplasmosis

Directory of Open Access Journals (Sweden)

L. Yu. Barycheva

2015-01-01

Full Text Available The results of following up infants with intrauterine infections and malformations were retrospectively analyzed. Infants with malformations were diagnosed as having congenital cytomegalovirus infection and congenital toxoplasmosis in 127 and 69 cases, respectively. The aim of the study was to characterize malformations in infants with congenital cytomegalovirus and congenital Toxoplasma infections. The infants with malformations in congenital cytomegalovirus infection were found to have higher mortality rates (61,4% than those with congenital toxoplasmosis (34,8%. Postmortem analysis indicated that there was a predominance of embryopathies in infants with congenital cytomegalovirus infection and that of fetopathies in those with congenital toxoplasmosis. The dead infants with congenital cytomegalovirus infection had more commonly developed visceral defects, including heart diseases, pneumopathies, gastrointestinal and genitourinary abnormalities; fetopathies of the central nervous system and eye were prevalent in congenital toxoplasmosis. The surviving children with congenital toxoplasmosis were more frequently observed to have disabling CNS and ocular sequels as obstructive hydrocephalus, infantile cerebral palsy, complete or partial blindness, and cerebrasthenic disorders than those with congenital cytomegalovirus infection. 

Mitochondrial disorders in congenital myopathies

Directory of Open Access Journals (Sweden)

D. A. Kharlamov

2014-01-01

Full Text Available The literature review gives data on the role of mitochondrial disorders in the pathogenesis of congenital myopathies: congenital muscular dystrophies and congenital structural myopathies. It describes changes in congenital muscular dystrophies with type VI collagen, in myodystrophy with giant mitochondria, in congenital central core myopathies, myotubular myopathy, etc. Clinical and experimental findings are presented. Approaches to therapy for energy disorders in congenital myopathies are depicted.

Pure apraxia of speech due to infarct in premotor cortex.

Science.gov (United States)

Patira, Riddhi; Ciniglia, Lauren; Calvert, Timothy; Altschuler, Eric L

Apraxia of speech (AOS) is now recognized as an articulation disorder distinct from dysarthria and aphasia. Various lesions have been associated with AOS in studies that are limited in precise localization due to variability in size and type of pathology. We present a case of pure AOS in setting of an acute stroke to localize more precisely than ever before the brain area responsible for AOS, dorsal premotor cortex (dPMC). The dPMC is in unique position to plan and coordinate speech production by virtue of its connection with nearby motor cortex harboring corticobulbar tract, supplementary motor area, inferior frontal operculum, and temporo-parietal area via the dorsal stream of dual-stream model of speech processing. The role of dPMC is further supported as part of dorsal stream in the dual-stream model of speech processing as well as controller in the hierarchical state feedback control model. Copyright © 2017 Polish Neurological Society. Published by Elsevier Urban & Partner Sp. z o.o. All rights reserved.

The reward of seeing: Different types of visual reward and their ability to modify oculomotor learning.

Science.gov (United States)

Meermeier, Annegret; Gremmler, Svenja; Richert, Kerstin; Eckermann, Til; Lappe, Markus

2017-10-01

Saccadic adaptation is an oculomotor learning process that maintains the accuracy of eye movements to ensure effective perception of the environment. Although saccadic adaptation is commonly considered an automatic and low-level motor calibration in the cerebellum, we recently found that strength of adaptation is influenced by the visual content of the target: pictures of humans produced stronger adaptation than noise stimuli. This suggests that meaningful images may be considered rewarding or valuable in oculomotor learning. Here we report three experiments that establish the boundaries of this effect. In the first, we tested whether stimuli that were associated with high and low value following long term self-administered reinforcement learning produce stronger adaptation. Twenty-eight expert gamers participated in two sessions of adaptation to game-related high- and low-reward stimuli, but revealed no difference in saccadic adaptation (Bayes Factor01 = 5.49). In the second experiment, we tested whether cognitive (literate) meaning could induce stronger adaptation by comparing targets consisting of words and nonwords. The results of twenty subjects revealed no difference in adaptation strength (Bayes Factor01 = 3.21). The third experiment compared images of human figures to noise patterns for reactive saccades. Twenty-two subjects adapted significantly more toward images of human figures in comparison to noise (p vs. noise), but not secondary, reinforcement affects saccadic adaptation (words vs. nonwords, high- vs. low-value video game images).

Cytomegalovirus Congenital Cataract

Directory of Open Access Journals (Sweden)

Ridha Wahyutomo

2011-06-01

Full Text Available Cytomegalovirus congenital infection is an infection caused by the the subfamily â Herpesviridae, during pregnancy. The incidence of infections among newborn infants is 1 %. One of the effects of congenitally acquired infection is the congenital cataract. A 6-year-old child complained to have a blurred vision diagnosed with cytomegalovirus congenital cataract. The diagnosis was confirmed by a positive serology testing for Ig M and Ig G CMV. The laboratory test using Giemsa staining to find inclusion bodies and a faster PCR could not be carried out (Sains Medika, 3(1:84-88.

Transfer effects of a cognitive strategy training for stroke patients with apraxia.

Science.gov (United States)

Geusgens, C A V; van Heugten, C M; Cooijmans, J P J; Jolles, J; van den Heuvel, W J A

2007-11-01

The objective of this study was to evaluate transfer effects of cognitive strategy training for stroke patients with apraxia. During 8 weeks, 29 apraxic patients received cognitive strategy training to teach them how to perform activities of daily living (ADL) as independently as possible. ADL functioning was assessed at the rehabilitation centre at baseline and after 8 weeks of training. In addition, assessment took place at the patients' own homes after 8 weeks of training and 5 months after the start of the training. The performance of both trained and nontrained tasks was observed. Patients performed trained tasks and nontrained tasks at the same level of independency at the rehabilitation centre as well as at home, indicating transfer of training effects. These effects turned out to be stable over time.

Manifestações da apraxia de fala na doença de Alzheimer Manifestations of apraxia of speech in Alzheimer's disease

Directory of Open Access Journals (Sweden)

Maysa Luchesi Cera

2011-09-01

Full Text Available OBJETIVO: Identificar as manifestações práxicas de pacientes com doença de Alzheimer em diferentes estágios da doença e verificar as similaridades entre as suas ocorrências. MÉTODOS: Foram avaliados noventa pacientes com doença de Alzheimer, 30 em cada fase da doença (leve, moderada e grave, por meio dos instrumentos: Escala de Avaliação Clínica da Demência (CDR, Mini-Exame do Estado Mental (MEEM, Avaliação das Atividades Instrumentais de Vida Diária (Índice Lawton e Protocolo de Avaliação da Apraxia Verbal e Não-verbal. Foram avaliados 66 pacientes do gênero feminino e 24 do masculino, a média da idade foi 80,2±7,2 e da escolaridade foi 4,2±3,5 anos. RESULTADOS: Na fase leve, as proporções de ensaio, repetição e adição foram semelhantes, assim como omissão, substituição e autocorreção. Na fase moderada foram semelhantes: ensaio e repetição, substituição, omissão e adição, e autocorreção. Na fase grave, todas as manifestações se assemelharam, exceto a adição. O erro do tipo adição diferenciou os pacientes em relação às fases da doença. CONCLUSÃO: Os pacientes dos três estágios da doença apresentam diferentes padrões de manifestações práxicas verbais.PURPOSE: To identify praxic speech manifestations in patients diagnosed with different stages of Alzheimer's disease, and to verify similarities among their occurrences. METHODS: Participants were 90 patients with Alzheimer's, 30 in each stage of the disease (mild, moderate and severe, who were assessed using the following instruments: Clinical Dementia Rating (CDR, Mini-Mental State Examination (MMSE, Lawton Instrumental Activities of Daily Living, and the Assessment Protocol of Verbal and Orofacial Apraxia. Sixty six female subjects and 24 male subjects were assessed; mean age was 80.2±7.2 years, and mean level of education was 4.2±3.5 years. RESULTS: In the mild stage, the proportions of trial-and-error, repetition and addition were

Functional Diversity of Neurotrophin Actions on the Oculomotor System

Science.gov (United States)

Benítez-Temiño, Beatriz; Davis-López de Carrizosa, María A.; Morcuende, Sara; Matarredona, Esperanza R.; de la Cruz, Rosa R.; Pastor, Angel M.

2016-01-01

Neurotrophins play a principal role in neuronal survival and differentiation during development, but also in the maintenance of appropriate adult neuronal circuits and phenotypes. In the oculomotor system, we have demonstrated that neurotrophins are key regulators of developing and adult neuronal properties, but with peculiarities depending on each neurotrophin. For instance, the administration of NGF (nerve growth factor), BDNF (brain-derived neurotrophic factor) or NT-3 (neurotrophin-3) protects neonatal extraocular motoneurons from cell death after axotomy, but only NGF and BDNF prevent the downregulation in ChAT (choline acetyltransferase). In the adult, in vivo recordings of axotomized extraocular motoneurons have demonstrated that the delivery of NGF, BDNF or NT-3 recovers different components of the firing discharge activity of these cells, with some particularities in the case of NGF. All neurotrophins have also synaptotrophic activity, although to different degrees. Accordingly, neurotrophins can restore the axotomy-induced alterations acting selectively on different properties of the motoneuron. In this review, we summarize these evidences and discuss them in the context of other motor systems. PMID:27916956

[Clinical study of post-stroke speech apraxia treated with scalp electric acupuncture under anatomic orientation and rehabilitation training].

Science.gov (United States)

Jiang, Yujuan; Yang, Yuxia; Xiang, Rong; Chang, E; Zhang, Yanchun; Zuo, Bingfang; Zhang, Qianwei

2015-07-01

To compare the differences in the clinical efficacy on post-stroke speech disorder between scalp electric acupuncture (EA) under anatomic orientation combined with rehabilitation training and simple rehabilitation training. Sixty patients of post-stroke speech apraxia were randomized into an observation group and a control group, 30 cases in each one. In the observation group, under anatomic orientation, the scalp EA was adopted to the dominant hemisphere Broca area on the left cerebrum. Additionally, the speech rehabilitation training was combined. In the control group, the speech rehabilitation training was simply,used. The treatment lasted for 4 weeks totally. The speech movement program module in the psychological language assessment and treatment system of Chinese aphasia was used for the evident of efficacy assessment. The scores of counting, singing scale, repeating phonetic alphabet, repeating monosyllable and repeating disyllable were observed in the patients of the two groups. The assessment was done separately on the day of grouping and 4 weeks after treatment. In 4 weeks of treatment, the scores of counting, singing scale, repeating phonetic alphabet, repeating monosyllable and repeating disyllable were all improved as compared with those before treatment in the two groups (all Pspeech rehabilitation training obviously improves speech apraxia in stroke patients so that the speech disorder cani be relieved. The efficacy is better than that in simple rehabilitation training.

Relationship between oculomotor scanning determined by the DEM test and a contextual reading test in schoolchildren with reading difficulties.

Science.gov (United States)

Palomo-Alvarez, Catalina; Puell, María C

2009-09-01

The relationship between oculomotor scanning and reading in poor readers of primary school age is not well known. This study was designed to assess this relationship by determining mean Developmental Eye Movement (DEM) test times and reading speeds in a Spanish non-clinical population of children with poor reading skills but without dyslexia. We conducted a cross-sectional study on 81 poor readers (8-11 years of age) in the third to fifth grades recruited from 11 elementary schools in Madrid, Spain. In each subject with best spectacle correction, oculomotor scanning was measured using the DEM test, and reading speed (words per minute) was assessed by a standardized Spanish contextual reading test. Mean horizontal DEM times were higher than normative values for children in the third, fourth and fifth grades, by 20 seconds, 12 seconds, and 3 seconds respectively. Mean reading speeds were 18 words per minute lower than the norm for the third and fourth grades respectively, and 30 words per minute lower than the norm for the fifth grade. Reading speeds were significantly related to horizontal DEM times (r = -0.53, p school children at an early stage.

Congenital Abnormalities

Science.gov (United States)

... tube defects. However, there is also a genetic influence to this type of congenital anomaly. Unknown Causes The vast majority of congenital abnormalities have no known cause. This is particularly troubling for parents who plan to have more children, because there is no way to predict if ...

Congenital tuberculosis

African Journals Online (AJOL)

Prof Ezechukwu

2012-06-20

Jun 20, 2012 ... Key words: Congenital tuberculo- sis, case report, miliary tuberculosis. Introduction. Congenital tuberculosis defines tuberculosis in infants of .... tary TB and otitis media, resulting in seizures, deafness, and death. It is therefore not surprising that the index case who presented at twelve weeks of age, had ...

Constrained versus Unconstrained Intensive Language Therapy in Two Individuals with Chronic, Moderate-to-Severe Aphasia and Apraxia of Speech: Behavioral and fMRI Outcomes

Science.gov (United States)

Kurland, Jacquie; Pulvermuller, Friedemann; Silva, Nicole; Burke, Katherine; Andrianopoulos, Mary

2012-01-01

Purpose: This Phase I study investigated behavioral and functional MRI (fMRI) outcomes of 2 intensive treatment programs to improve naming in 2 participants with chronic moderate-to-severe aphasia with comorbid apraxia of speech (AOS). Constraint-induced aphasia therapy (CIAT; Pulvermuller et al., 2001) has demonstrated positive outcomes in some…

Parálisis Parcial del Nervio Oculomotor Secundaria a Zoster Sine Herpete: Reporte de Un Caso

Directory of Open Access Journals (Sweden)

Oscar L. Rueda O.

2013-12-01

Full Text Available Introducción: Herpes Zoster es la reactivación del Virus Varicela Zóster en los ganglios sensoriales y/o autonómicos, típicamente caracterizado por dolor profundo de distribución dermatómica y erupciones vesiculares en piel. De manera infrecuente, puede presentarse el Zoster Sine Herpete, condición en la cual se presenta la distribución dermatómica del dolor en ausencia de lesiones dérmicas, convirtiendo el diagnóstico en un reto clínico. Caso clínico: Hombre de 69 años con dolor periorbitario, epifora, ptosis y pérdida de la aducción del ojo derecho. Los estudios imagenológicos y de laboratorio fueron normales, descartando así las principales causas de parálisis del nervio oculomotor. Se hizo diagnóstico presuntivo de Zoster Sine Herpete y se inició prueba terapéutica con valaciclovir, observándose resolución total de la sintomatología seis semanas después. Discusión: Este caso puede ser el primero en describir una parálisis parcial dolorosa del nervio oculomotor como única manifestación clínica de la reactivación del Virus Varicela Zóster y busca alertar al personal médico sobre una enfermedad latente que hace de sus reapariciones una gama de presentaciones no siempre fáciles de identificar.

A Rare Syndrome of Deletion in 2 Siblings

Directory of Open Access Journals (Sweden)

Aravindhan Veerapandiyan MBBS

2017-08-01

Full Text Available The Glutamate receptor, ionotropic, delta 2 gene codes for an ionotropic glutamate delta-2 receptor, which is selectively expressed in cerebellar Purkinje cells, and facilitates cerebellar synapse organization and transmission. The phenotype associated with the deletion of Glutamate receptor, ionotropic, delta 2 gene in humans was initially defined in 2013. In this case report, the authors describe 2 brothers who presented with developmental delay, tonic upward gaze, nystagmus, oculomotor apraxia, hypotonia, hyperreflexia, and ataxia. They were found to have a homozygous intragenic deletion within the Glutamate receptor, ionotropic, delta 2 gene at exon 2. Our patients serve as an addition to the literature of previously reported children with this rare clinical syndrome associated with Glutamate receptor, ionotropic, delta 2 deletion.

Congenital orbital teratoma

OpenAIRE

Aiyub, Shereen; Chan, Weng Onn; Szetu, John; Sullivan, Laurence J; Pater, John; Cooper, Peter; Selva, Dinesh

2013-01-01

We present a case of mature congenital orbital teratoma managed with lid-sparing exenteration and dermis fat graft. This is a case report on the management of congenital orbital teratoma. A full-term baby was born in Fiji with prolapsed right globe which was surrounded by a nonpulsatile, cystic mass. Clinical and imaging features were consistent with congenital orbital teratoma. Due to limited surgical expertise, the patient was transferred to Adelaide, Australia for further management. The p...

The influence of L-acetylcarnitine on reinnervation of the oculomotor nerve.

Science.gov (United States)

Pettorossi, V E; Draicchio, F; Fernandez, E; Pallini, R

1993-01-01

In guinea-pigs the oral administration of L-acetylcarnitine (L-AC) markedly favours the process of reinnervation of the oculomotor nerve sectioned at intracranial level. The gains of the horizontal and vertical vestibulo-ocular reflexes (HVOR, VVOR) were taken into consideration in testing the functional recovery of the nerve. As a consequence of the drug administration, 24 weeks after the operation the gains of the treated animals were higher than those of the controls. Reduction of misalignments of the stimulus-response orientation was also observed in treated animals as compared to the controls. This suggests that L-AC potentiates motor reinnervation by enhancing the nerve-growing processes and favouring a better consolidation of the appropriate neuromuscular synapses. The increased gain, and the improvement of the alignment in ocular responses, due to L-AC would allow for an increase of visual function during head movement by optimizing gaze stability.

Reliance on auditory feedback in children with childhood apraxia of speech.

Science.gov (United States)

Iuzzini-Seigel, Jenya; Hogan, Tiffany P; Guarino, Anthony J; Green, Jordan R

2015-01-01

Children with childhood apraxia of speech (CAS) have been hypothesized to continuously monitor their speech through auditory feedback to minimize speech errors. We used an auditory masking paradigm to determine the effect of attenuating auditory feedback on speech in 30 children: 9 with CAS, 10 with speech delay, and 11 with typical development. The masking only affected the speech of children with CAS as measured by voice onset time and vowel space area. These findings provide preliminary support for greater reliance on auditory feedback among children with CAS. Readers of this article should be able to (i) describe the motivation for investigating the role of auditory feedback in children with CAS; (ii) report the effects of feedback attenuation on speech production in children with CAS, speech delay, and typical development, and (iii) understand how the current findings may support a feedforward program deficit in children with CAS. Copyright © 2015 The Authors. Published by Elsevier Inc. All rights reserved.

Comparing Life Quality Strategies and Emotion Regulation in People with Congenital and Non-Congenital Motor Disability

Directory of Open Access Journals (Sweden)

Seyedeh Zeynab Miraghaei

2017-10-01

Full Text Available Objective: The purpose of the present study was to compare emotion regulation strategies and life quality of people with congenital and non-congenital motor disabilities. Method: This study is a casual-comparative study and its population consisted of all people with congenital and non-congenital motor disability in Kahrizak Charity Foundation in Tehran in 2016. To conduct the study, available sampling method was used, and congenital and non-congenital disabled people were selected (200 people. To collect data, Cognitive Emotion Regulation Scale by Granovsky and life quality questionnaire were used. Research hypotheses were tested using multivariate analysis of variance. Results: The findings of this study showed that there is a significant difference between emotion regulation components in people with congenital and non-congenital disabilities (p<0.05. Also, according to the findings, a significant difference was observed between life quality dimensions (physical and mental health in people with congenital and non-congenital disabilities (p<0.05. Conclusion: According to the significant difference between two groups of subjects, necessary measures regarding consultation and psychotherapy should be taken into consideration to let people benefit from desirable mental health level.

Key aspects congenital infection

Directory of Open Access Journals (Sweden)

Yu. V. Lobzin

2014-01-01

Full Text Available The key questions to solve the problem of congenital infection in the Russian Federation are: using in national practice over world accepted terminology adapted to the recommendations of the World Health Organization; representation of the modern concepts of an infectious process in the classification of congenital infections; scientific development and introducing in clinical practice the «standard case definitions», applied to different congenital infections; optimization of protocols and clinical guidelines for diagnosis, treatment and prevention of congenital infections; improvement a knowledge in the infectious disease for all  pecialists involved in the risk assessment of congenital infections, manage pregnancy and children. Based on our experience and analysis of publications, the authors suggest possible solutions.

Congenital symmastia revisited

DEFF Research Database (Denmark)

Sillesen, Nanna H; Hölmich, Lisbeth R; Siersen, Hans Erik

2012-01-01

Symmastia is defined as medial confluence of the breast. The term 'symmastia' is modified from Greek (syn meaning 'together', and mastos meaning 'breast') and was first presented by Spence et al. in 1983. Two forms of symmastia exist: an iatrogenic and a congenital version. Congenital symmastia...... is a rare condition in which web-like soft tissue traverses the sternum to connect the breasts medially. The literature on congenital symmastia is limited, few cases have been published, and knowledge about ideal treatment is still insufficient....

Association of ideomotor apraxia with lesion site, etiology, neglect, and functional independence in patients with first ever stroke.

Science.gov (United States)

Civelek, Gul Mete; Atalay, Ayce; Turhan, Nur

2015-04-01

Ideomotor apraxia (IMA) is characterized by the inability to correctly imitate hand gestures and voluntarily pantomime tool use. The relationship between IMA and characteristics of stroke has not been totally elucidated. This study aimed to find out associations between presence of IMA and stroke etiology, site of the lesions, neglect, and temporal and functional parameters of stroke in patients with first ever stroke. Thirty-nine patients with first ever stroke were included. Patients with severe cognitive deficits were excluded. Assessment tools included Ideomotor Apraxia Test, Functional Independence Measure (FIM), Brunnstrom recovery stages, Mini Mental Test (MMT), and star cancellation test. Etiology (hemorrhagic or ischemic) and site of stroke was assessed through brain imaging methods. Location and size of ischemic lesion was determined by using the Oxfordshire Community Stroke Project system. IMA was identified in 35.9% of the patients. Patients with IMA had significantly lower FIM scores both on admission and discharge (P = 0.001, P = 0.001). Presence of IMA was significantly associated with the presence of neglect (P = 0.004), total anterior circulation ischemia (TACI) (P stroke etiology had no impact on the presence of IMA. IMA was in concordance with poor cognitive and functional state and was not limited to left hemisphere lesions. The study revealed strong associations between IMA, neglect, and TACI. Every patient with stroke should be evaluated for the presence of IMA on admission to rehabilitation unit.

Congenital Intrahepatic Portosystemic Shunts

Energy Technology Data Exchange (ETDEWEB)

Lee, Woong Hee; Kim, Young Tong; Jou, Sung Shick; Shin, Hyeong Cheol [Soonchunhyang University, Asan (Korea, Republic of)

2008-12-15

Intrahepatic portosystemic shunts are an anomalous connection between the portal vein and hepatic vein/IVC, which may be either congenital or acquired secondary to liver cirrhosis or portal hypertension. Cases of congenital intrahepatic shunts are usually encountered in children and may spontaneously resolve. We report 5 cases of congenital intrahepatic portosystemic shunts in neonates and an adult

Congenital heart disease

Science.gov (United States)

Congenital heart disease (CHD) is a problem with the heart's structure and function that is present at birth. ... Fraser CD, Kane LC. Congenital heart disease. In: Townsend CM Jr, ... Sabiston Textbook of Surgery: The Biological Basis of Modern ...

Genetics Home Reference: congenital hypothyroidism

Science.gov (United States)

... Facebook Twitter Home Health Conditions Congenital hypothyroidism Congenital hypothyroidism Printable PDF Open All Close All Enable Javascript to view the expand/collapse boxes. Description Congenital hypothyroidism is a partial or complete loss of function ...

[Neonatal tumours and congenital malformations].

Science.gov (United States)

Berbel Tornero, O; Ortega García, J A; Ferrís i Tortajada, J; García Castell, J; Donat i Colomer, J; Soldin, O P; Fuster Soler, J L

2008-06-01

The association between pediatric cancer and congenital abnormalities is well known but, there is no exclusive data on the neonatal period and the underlying etiopathogenic mechanisms are unknown. First, to analyze the frequency of neonatal tumours associated with congenital abnormalities; and second, to comment on the likely etiopathogenic hypotheses of a relationship between neonatal tumours and congenital abnormalities. Historical series of neonatal tumours from La Fe University Children's Hospital in Valencia (Spain), from January 1990 to December 1999. Histological varieties of neonatal tumours and associated congenital abnormalities were described. A systematic review of the last 25 years was carried out using Medline, Cancerlit, Index Citation Science and Embase. The search profile used was the combination of "neonatal/congenital-tumors/cancer/neoplasms" and "congenital malformations/birth defects". 72 neonatal tumours were identified (2.8% of all pediatric cancers diagnosed in our hospital) and in 15 cases (20.8%) there was some associated malformation, disease or syndrome. The association between congenital abnormalities and neonatal tumours were: a) angiomas in three patients: two patients with congenital heart disease with a choanal stenosis, laryngomalacia; b) neuroblastomas in two patients: horseshoe kidney with vertebral anomalies and other with congenital heart disease; c) teratomas in two patients: one with cleft palate with vertebral anomalies and other with metatarsal varus; d) one tumour of the central nervous system with Bochdaleck hernia; e) heart tumours in four patients with tuberous sclerosis; f) acute leukaemia in one patient with Down syndrome and congenital heart disease; g) kidney tumour in one case with triventricular hydrocephaly, and h) adrenocortical tumour: hemihypertrophy. The publications included the tumours diagnosed in different pediatric periods and without unified criteria to classify the congenital abnormalities. Little data

Reading Impairments in Schizophrenia Relate to Individual Differences in Phonological Processing and Oculomotor Control: Evidence from a Gaze-Contingent Moving Window Paradigm

Science.gov (United States)

Whitford, Veronica; O'Driscoll, Gillian A.; Pack, Christopher C.; Joober, Ridha; Malla, Ashok; Titone, Debra

2013-01-01

Language and oculomotor disturbances are 2 of the best replicated findings in schizophrenia. However, few studies have examined skilled reading in schizophrenia (e.g., Arnott, Sali, Copland, 2011; Hayes & O'Grady, 2003; Revheim et al., 2006; E. O. Roberts et al., 2012), and none have examined the contribution of cognitive and motor processes that…

Coordination of Word Recognition and Oculomotor Control During Reading: The Role of Implicit Lexical Decisions

Science.gov (United States)

Choi, Wonil; Gordon, Peter C.

2013-01-01

The coordination of word-recognition and oculomotor processes during reading was evaluated in two eye-tracking experiments that examined how word skipping, where a word is not fixated during first-pass reading, is affected by the lexical status of a letter string in the parafovea and ease of recognizing that string. Ease of lexical recognition was manipulated through target-word frequency (Experiment 1) and through repetition priming between prime-target pairs embedded in a sentence (Experiment 2). Using the gaze-contingent boundary technique the target word appeared in the parafovea either with full preview or with transposed-letter (TL) preview. The TL preview strings were nonwords in Experiment 1 (e.g., bilnk created from the target blink), but were words in Experiment 2 (e.g., sacred created from the target scared). Experiment 1 showed greater skipping for high-frequency than low-frequency target words in the full preview condition but not in the TL preview (nonword) condition. Experiment 2 showed greater skipping for target words that repeated an earlier prime word than for those that did not, with this repetition priming occurring both with preview of the full target and with preview of the target’s TL neighbor word. However, time to progress from the word after the target was greater following skips of the TL preview word, whose meaning was anomalous in the sentence context, than following skips of the full preview word whose meaning fit sensibly into the sentence context. Together, the results support the idea that coordination between word-recognition and oculomotor processes occurs at the level of implicit lexical decisions. PMID:23106372

Somatomotor and oculomotor inferior olivary neurons have distinct electrophysiological phenotypes

Science.gov (United States)

Urbano, Francisco J.; Simpson, John I.; Llinás, Rodolfo R.

2006-01-01

The electrophysiological properties of rat inferior olive (IO) neurons in the dorsal cap of Kooy (DCK) and the adjacent ventrolateral outgrowth (VLO) were compared with those of IO neurons in the principal olive (PO). Whereas DCK/VLO neurons are involved in eye movement control via their climbing fiber projection to the cerebellar flocculus, PO neurons control limb and digit movements via their climbing fiber projection to the lateral cerebellar hemisphere. In vitro patch recordings from DCK/VLO neurons revealed that low threshold calcium currents, Ih currents, and subthreshold oscillations are lacking in this subset of IO neurons. The recordings of activity in DCK neurons obtained by using voltage-sensitive dye imaging showed that activity is not limited to a single neuron, but rather that clusters of DCK neurons can be active in unison. These electrophysiological results show that the DCK/VLO neurons have unique properties that set them apart from the neurons in the PO nucleus. This finding indicates that motor control, from the perspective of the olivocerebellar system, is fundamentally different for the oculomotor and the somatomotor systems. PMID:17050678

Congenital heat disease

International Nuclear Information System (INIS)

Higgins, C.B.; Silverman, N.H.; Kersting-Somerhoff, B.A.

1990-01-01

The book covers the tomographic anatomy of the normal and congenitally malformed heart and tomographic imaging of the normal heat. It then compares echocardiographic evaluation and the use of MR imaging in the diagnosis and evaluation of individual congenital cardiac malformations

Congenital orbital teratoma.

Science.gov (United States)

Aiyub, Shereen; Chan, Wengonn; Szetu, John; Sullivan, Laurence J; Pater, John; Cooper, Peter; Selva, Dinesh

2013-12-01

We present a case of mature congenital orbital teratoma managed with lid-sparing exenteration and dermis fat graft. This is a case report on the management of congenital orbital teratoma. A full-term baby was born in Fiji with prolapsed right globe which was surrounded by a nonpulsatile, cystic mass. Clinical and imaging features were consistent with congenital orbital teratoma. Due to limited surgical expertise, the patient was transferred to Adelaide, Australia for further management. The patient underwent a lid-sparing exenteration with frozen section control of the apical margin. A dermis fat graft from the groin was placed beneath the lid skin to provide volume. Histopathology revealed mature tissues from each of the three germ cell layers which confirmed the diagnosis of mature teratoma. We describe the successful use of demis fat graft in socket reconstruction following lid-sparing exenteration for congenital orbital teratoma.

Congenital orbital teratoma

Directory of Open Access Journals (Sweden)

Shereen Aiyub

2013-01-01

Full Text Available We present a case of mature congenital orbital teratoma managed with lid-sparing exenteration and dermis fat graft. This is a case report on the management of congenital orbital teratoma. A full-term baby was born in Fiji with prolapsed right globe which was surrounded by a nonpulsatile, cystic mass. Clinical and imaging features were consistent with congenital orbital teratoma. Due to limited surgical expertise, the patient was transferred to Adelaide, Australia for further management. The patient underwent a lid-sparing exenteration with frozen section control of the apical margin. A dermis fat graft from the groin was placed beneath the lid skin to provide volume. Histopathology revealed mature tissues from each of the three germ cell layers which confirmed the diagnosis of mature teratoma. We describe the successful use of demis fat graft in socket reconstruction following lid-sparing exenteration for congenital orbital teratoma.

Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford

Science.gov (United States)

2017-09-28

; Episodic Ataxia Type 7; Episodic Ataxia Type 6; Episodic Ataxia Type 5; Episodic Ataxia Type 4; Episodic Ataxia Type 3; Episodic Ataxia Type 1; Epilepsy and/or Ataxia With Myoclonus as Major Feature; Early-onset Spastic Ataxia-neuropathy Syndrome; Early-onset Progressive Neurodegeneration - Blindness - Ataxia - Spasticity; Early-onset Cerebellar Ataxia With Retained Tendon Reflexes; Early-onset Ataxia With Dementia; Childhood-onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia; Dilated Cardiomyopathy With Ataxia; Cataract - Ataxia - Deafness; Cerebellar Ataxia, Cayman Type; Cerebellar Ataxia With Peripheral Neuropathy; Cerebellar Ataxia - Hypogonadism; Cerebellar Ataxia - Ectodermal Dysplasia; Cerebellar Ataxia - Areflexia - Pes Cavus - Optic Atrophy - Sensorineural Hearing Loss; Brain Tumor Ataxia; Brachydactyly - Nystagmus - Cerebellar Ataxia; Benign Paroxysmal Tonic Upgaze of Childhood With Ataxia; Autosomal Recessive Syndromic Cerebellar Ataxia; Autosomal Recessive Spastic Ataxia With Leukoencephalopathy; Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay; Autosomal Recessive Spastic Ataxia - Optic Atrophy - Dysarthria; Autosomal Recessive Spastic Ataxia; Autosomal Recessive Metabolic Cerebellar Ataxia; Autosomal Dominant Spinocerebellar Ataxia Due to Repeat Expansions That do Not Encode Polyglutamine; Autosomal Recessive Ataxia, Beauce Type; Autosomal Recessive Ataxia Due to Ubiquinone Deficiency; Autosomal Recessive Ataxia Due to PEX10 Deficiency; Autosomal Recessive Degenerative and Progressive Cerebellar Ataxia; Autosomal Recessive Congenital Cerebellar Ataxia Due to MGLUR1 Deficiency; Autosomal Recessive Congenital Cerebellar Ataxia Due to GRID2 Deficiency; Autosomal Recessive Congenital Cerebellar Ataxia; Autosomal Recessive Cerebellar Ataxia-pyramidal Signs-nystagmus-oculomotor Apraxia Syndrome; Autosomal Recessive Cerebellar Ataxia-epilepsy-intellectual Disability Syndrome Due to WWOX Deficiency; Autosomal Recessive Cerebellar Ataxia

Burden and impact of congenital syndromes and comorbidities among adults with congenital heart disease.

Science.gov (United States)

Bracher, Isabelle; Padrutt, Maria; Bonassin, Francesca; Santos Lopes, Bruno; Gruner, Christiane; Stämpfli, Simon F; Oxenius, Angela; De Pasquale, Gabriella; Seeliger, Theresa; Lüscher, Thomas F; Attenhofer Jost, Christine; Greutmann, Matthias

2017-08-01

Our aim was to assess the overall burden of congenital syndromes and non-cardiac comorbidities among adults with congenital heart disease and to assess their impact on circumstances of living and outcomes. Within a cohort of 1725 adults with congenital heart defects (65% defects of moderate or great complexity) followed at a single tertiary care center, congenital syndromes and comorbidities were identified by chart review. Their association with arrhythmias, circumstances of living and survival was analyzed. Within the study cohort, 232 patients (13%) had a genetic syndrome, 51% at least one comorbidity and 23% ≥2 comorbidities. Most prevalent comorbidities were systemic arterial hypertension (11%), thyroid dysfunction (9%), psychiatric disorders (9%), neurologic disorders (7%), chronic lung disease (7%), and previous stroke (6%). In contrast to higher congenital heart defect complexity, the presence of comorbidities had no impact on living circumstances but patients with comorbidities were less likely to work full-time. Atrial arrhythmias were more common among patients with moderate/great disease complexity and those with comorbidities but were less common among patients with congenital syndromes (pCongenital syndromes and comorbidities are highly prevalent in adults with congenital heart disease followed at specialist centers and add to the overall complexity of care. The presence of these additional factors has an impact on living circumstances, is associated with arrhythmias and needs to be further explored as prognostic markers. Copyright © 2017 Elsevier B.V. All rights reserved.

Congenital cytomegalovirus infection

Directory of Open Access Journals (Sweden)

Katarina Rednak-Paradiž

2006-11-01

Full Text Available Background: CMV is the most common agent that causes congenital virus infection. Only 10 % of infected children have symptomatic infection immediately after birth. Signs of central nervous system damage, neurosensory deafness and delayed psychomotor development may manifest as a result of asimptomatic congenital infection later in childhood. In the article we present basic properties of CMV; we describe clinical picture of the congenital infection and possibilities of diagnose and its treatment. We present five children with symptomatic congenital CMV infection that were hospitalized for the period 1992–2002 at the Neonatal department in the University Children’s Hospital in Ljubljana.Conclusions: Identification of infected neonates, especially those with asimptomatic congenital CMV infection, is difficult. Latest incidence of infection in Slovenia is unknown. With new investigations the efficiency of antiviral therapy was discovered but exact indications for therapy are not yet known. CMV vaccine, once available, may ultimately be the best control strategy for this important public health problem. Proper educating women in childbearing age about the risks of CMV and how to avoid disease transmission during pregnancy (hand washing, avoiding mouth-to-mouth contact with preschool children, usage of gloves especially when handling dipers or respiratory secretions are the only control strategies available.

Prevalence of congenital amusia.

Science.gov (United States)

Peretz, Isabelle; Vuvan, Dominique T

2017-05-01

Congenital amusia (commonly known as tone deafness) is a lifelong musical disorder that affects 4% of the population according to a single estimate based on a single test from 1980. Here we present the first large-based measure of prevalence with a sample of 20 000 participants, which does not rely on self-referral. On the basis of three objective tests and a questionnaire, we show that (a) the prevalence of congenital amusia is only 1.5%, with slightly more females than males, unlike other developmental disorders where males often predominate; (b) self-disclosure is a reliable index of congenital amusia, which suggests that congenital amusia is hereditary, with 46% first-degree relatives similarly affected; (c) the deficit is not attenuated by musical training and (d) it emerges in relative isolation from other cognitive disorder, except for spatial orientation problems. Hence, we suggest that congenital amusia is likely to result from genetic variations that affect musical abilities specifically.

Dysfunction of the Human Mirror Neuron System in Ideomotor Apraxia: Evidence from Mu Suppression.

Science.gov (United States)

Frenkel-Toledo, Silvi; Liebermann, Dario G; Bentin, Shlomo; Soroker, Nachum

2016-06-01

Stroke patients with ideomotor apraxia (IMA) have difficulties controlling voluntary motor actions, as clearly seen when asked to imitate simple gestures performed by the examiner. Despite extensive research, the neurophysiological mechanisms underlying failure to imitate gestures in IMA remain controversial. The aim of the current study was to explore the relationship between imitation failure in IMA and mirror neuron system (MNS) functioning. Mirror neurons were found to play a crucial role in movement imitation and in imitation-based motor learning. Their recruitment during movement observation and execution is signaled in EEG recordings by suppression of the lower (8-10 Hz) mu range. We examined the modulation of EEG in this range in stroke patients with left (n = 21) and right (n = 15) hemisphere damage during observation of video clips showing different manual movements. IMA severity was assessed by the DeRenzi standardized diagnostic test. Results showed that failure to imitate observed manual movements correlated with diminished mu suppression in patients with damage to the right inferior parietal lobule and in patients with damage to the right inferior frontal gyrus pars opercularis-areas where major components of the human MNS are assumed to reside. Voxel-based lesion symptom mapping revealed a significant impact on imitation capacity for the left inferior and superior parietal lobules and the left post central gyrus. Both left and right hemisphere damages were associated with imitation failure typical of IMA, yet a clear demonstration of relationship to the MNS was obtained only in the right hemisphere damage group. Suppression of the 8-10 Hz range was stronger in central compared with occipital sites, pointing to a dominant implication of mu rather than alpha rhythms. However, the suppression correlated with De Renzi's apraxia test scores not only in central but also in occipital sites, suggesting a multifactorial mechanism for IMA, with a possible

Congenital Leukemia in Down's syndrome

International Nuclear Information System (INIS)

Iqbal, W.; Khan, F.; Muzaffar, M.; Khan, U. A.; Rehman, M. U.; Khan, M. A.; Bari, A.

2006-01-01

Congenital Leukemia is a condition and often associated with fatal outcome/sup 1/. Most of the neonatal cases reported have acute non-lymphoblastic leukemia, in contrast to the predominance of acute lymphoblastic leukemia found in later childhood. congenital leukemia is occasionally associated with number of congenital anomalies and with chromosomal disorders such as Down's syndrome. Subtle cytogenetic abnormalities may occur more commonly in the affected infants and their parents, when studied with newer cytogenetic techniques/sup 2/. Inherent unstable hematopoieses resulting from chromosomal aberration in children with Downs's syndrome can present with transient myeloproliferative disorder, mimicking leukemia which undergoes spontaneous recovery/sup 3/. Only few cases of congenital leukemia with Downs syndrome, presented as congenital leukemia. (author)

Prevalence of congenital anomalies in newborns with congenital heart disease diagnosis

International Nuclear Information System (INIS)

Egbe, Alexander; Lee, Simon; Ho, Deborah; Uppu, Santosh; Srivastava, Shubhika

2014-01-01

There is a known association between congenital heart disease (CHD) and other congenital anomalies (CA). These associations have been altered by changes in prenatal factors in recent time. We reviewed the largest database of inpatient hospitalization information and analyzed the current association between common CHD diagnoses and other congenital anomalies. Case-control study design. We reviewed the Nationwide Inpatient Sample (NIS) database from 1998 to 2008 and identified all live births with CHD diagnosis (case) and live births without CHD diagnosis (control). We compared prevalence of associated congenital anomalies between the case and control groups. Our cohort consisted of 97,154 and 12,078,482 subjects in the case and control groups, respectively. In the CHD population, prevalence of non-syndromic congenital anomaly (NSCA), genetic syndrome (GS), and overall extra-cardiac congenital anomaly (CA) were 11.4, 2.2, and 13.6%, respectively. In the control group, prevalence of NSCA, GS, and CA were 6.7, 0.3, and 7.0%, respectively. NSCA (odds ratio (OR): 1.88, confidence interval (CI): 1.73-1.94), GS (OR 2.52, CI 2.44-2.61), and overall CA (OR: 2.01, CI: 1.97-2.14) were strongly associated with CHD. Prevalence of GS and multiple organ-system CA decreased significantly over the study period. This is the largest and most comprehensive population-based study evaluating association between CHD and extra-cardiac malformation (ECM) in newborns. There was significant decrease in prevalence of GS and multiple CA over the study period

Congenital heart defects and extracardiac malformations.

Science.gov (United States)

Rosa, Rosana Cardoso M; Rosa, Rafael Fabiano M; Zen, Paulo Ricardo G; Paskulin, Giorgio Adriano

2013-06-01

To review the association between congenital heart defects and extracardiac malformations. Scientific articles were searched in the Medline, Lilacs, and SciELO databases, using the descriptors "congenital heart disease," "congenital heart defects," "congenital cardiac malformations," "extracardiac defects," and "extracardiac malformations." All case series that specifically explored the association between congenital heart defects and extracardiac malformations were included. Congenital heart diseases are responsible for about 40% of birth defects, being one of the most common and severe malformations. Extracardiac malformations are observed in 7 to 50% of the patients with congenital heart disease, bringing a greater risk of comorbidity and mortality and increasing the risks related to heart surgery. Different studies have attempted to assess the presence of extracardiac abnormalities in patients with congenital heart disease. Among the changes described, those of the urinary tract are more often reported. However, no study has evaluated all patients in the same way. Extracardiac abnormalities are frequent among patients with congenital heart disease, and patients with these alterations may present an increased risk of morbimortality. Therefore, some authors have been discussing the importance and cost-effectiveness of screening these children for other malformations by complementary exams.

Congenital Heart Defects and CCHD

Science.gov (United States)

... and more. Stony Point, NY 10980 Close X Home > Complications & Loss > Birth defects & other health conditions > Congenital heart defects and ... in congenital heart defects. You have a family history of congenital heart ... syndrome or VCF. After birth Your baby may be tested for CCHD as ...

Congenital amusias.

Science.gov (United States)

Tillmann, B; Albouy, P; Caclin, A

2015-01-01

In contrast to the sophisticated music processing reported in the general population, individuals with congenital amusia show deficits in music perception and production. Congenital amusia occurs without brain damage, sensory or cognitive deficits, and has been suggested as a lifelong deficit with genetic origin. Even though recognized for a long time, this disorder has been systematically studied only relatively recently for its behavioral and neural correlates. The currently most investigated hypothesis about the underlying deficits concerns the pitch dimension, notably with impaired pitch discrimination and memory. Anatomic and functional investigations of pitch processing revealed that the amusic brain presents abnormalities in the auditory and inferior frontal cortices, associated with decreased connectivity between these structures. The deficit also impairs processing of pitch in speech material and processing of the time dimension in music for some of the amusic individuals, but does not seem to affect spatial processing. Some studies suggest at least partial dissociation in the disorder between perception and production. Recent studies revealed spared implicit pitch perception in congenital amusia, supporting the power of implicit cognition in the music domain. Current challenges consist in defining different subtypes of congenital amusia as well as developing rehabilitation programs for this "musical handicap." © 2015 Elsevier B.V. All rights reserved.

Behavioral and neurobiological correlates of childhood apraxia of speech in Italian children.

Science.gov (United States)

Chilosi, Anna Maria; Lorenzini, Irene; Fiori, Simona; Graziosi, Valentina; Rossi, Giuseppe; Pasquariello, Rosa; Cipriani, Paola; Cioni, Giovanni

2015-11-01

Childhood apraxia of speech (CAS) is a neurogenic Speech Sound Disorder whose etiology and neurobiological correlates are still unclear. In the present study, 32 Italian children with idiopathic CAS underwent a comprehensive speech and language, genetic and neuroradiological investigation aimed to gather information on the possible behavioral and neurobiological markers of the disorder. The results revealed four main aggregations of behavioral symptoms that indicate a multi-deficit disorder involving both motor-speech and language competence. Six children presented with chromosomal alterations. The familial aggregation rate for speech and language difficulties and the male to female ratio were both very high in the whole sample, supporting the hypothesis that genetic factors make substantial contribution to the risk of CAS. As expected in accordance with the diagnosis of idiopathic CAS, conventional MRI did not reveal macrostructural pathogenic neuroanatomical abnormalities, suggesting that CAS may be due to brain microstructural alterations. Copyright © 2015 Elsevier Inc. All rights reserved.

Responses of Purkinje cells in the oculomotor vermis of monkeys during smooth pursuit eye movements and saccades: comparison with floccular complex.

Science.gov (United States)

Raghavan, Ramanujan T; Lisberger, Stephen G

2017-08-01

We recorded the responses of Purkinje cells in the oculomotor vermis during smooth pursuit and saccadic eye movements. Our goal was to characterize the responses in the vermis using approaches that would allow direct comparisons with responses of Purkinje cells in another cerebellar area for pursuit, the floccular complex. Simple-spike firing of vermis Purkinje cells is direction selective during both pursuit and saccades, but the preferred directions are sufficiently independent so that downstream circuits could decode signals to drive pursuit and saccades separately. Complex spikes also were direction selective during pursuit, and almost all Purkinje cells showed a peak in the probability of complex spikes during the initiation of pursuit in at least one direction. Unlike the floccular complex, the preferred directions for simple spikes and complex spikes were not opposite. The kinematics of smooth eye movement described the simple-spike responses of vermis Purkinje cells well. Sensitivities were similar to those in the floccular complex for eye position and considerably lower for eye velocity and acceleration. The kinematic relations were quite different for saccades vs. pursuit, supporting the idea that the contributions from the vermis to each kind of movement could contribute independently in downstream areas. Finally, neither the complex-spike nor the simple-spike responses of vermis Purkinje cells were appropriate to support direction learning in pursuit. Complex spikes were not triggered reliably by an instructive change in target direction; simple-spike responses showed very small amounts of learning. We conclude that the vermis plays a different role in pursuit eye movements compared with the floccular complex. NEW & NOTEWORTHY The midline oculomotor cerebellum plays a different role in smooth pursuit eye movements compared with the lateral, floccular complex and appears to be much less involved in direction learning in pursuit. The output from the

Patterns of Post-Stroke Brain Damage that Predict Speech Production Errors in Apraxia of Speech and Aphasia Dissociate

Science.gov (United States)

Basilakos, Alexandra; Rorden, Chris; Bonilha, Leonardo; Moser, Dana; Fridriksson, Julius

2015-01-01

Background and Purpose Acquired apraxia of speech (AOS) is a motor speech disorder caused by brain damage. AOS often co-occurs with aphasia, a language disorder in which patients may also demonstrate speech production errors. The overlap of speech production deficits in both disorders has raised questions regarding if AOS emerges from a unique pattern of brain damage or as a sub-element of the aphasic syndrome. The purpose of this study was to determine whether speech production errors in AOS and aphasia are associated with distinctive patterns of brain injury. Methods Forty-three patients with history of a single left-hemisphere stroke underwent comprehensive speech and language testing. The Apraxia of Speech Rating Scale was used to rate speech errors specific to AOS versus speech errors that can also be associated with AOS and/or aphasia. Localized brain damage was identified using structural MRI, and voxel-based lesion-impairment mapping was used to evaluate the relationship between speech errors specific to AOS, those that can occur in AOS and/or aphasia, and brain damage. Results The pattern of brain damage associated with AOS was most strongly associated with damage to cortical motor regions, with additional involvement of somatosensory areas. Speech production deficits that could be attributed to AOS and/or aphasia were associated with damage to the temporal lobe and the inferior pre-central frontal regions. Conclusion AOS likely occurs in conjunction with aphasia due to the proximity of the brain areas supporting speech and language, but the neurobiological substrate for each disorder differs. PMID:25908457

The human oculomotor response to simultaneous visual and physical movements at two different frequencies

Science.gov (United States)

Wall, C.; Assad, A.; Aharon, G.; Dimitri, P. S.; Harris, L. R.

2001-01-01

In order to investigate interactions in the visual and vestibular systems' oculomotor response to linear movement, we developed a two-frequency stimulation technique. Thirteen subjects lay on their backs and were oscillated sinusoidally along their z-axes at between 0.31 and 0.81 Hz. During the oscillation subjects viewed a large, high-contrast, visual pattern oscillating in the same direction as the physical motion but at a different, non-harmonically related frequency. The evoked eye movements were measured by video-oculography and spectrally analysed. We found significant signal level at the sum and difference frequencies as well as at other frequencies not present in either stimulus. The emergence of new frequencies indicates non-linear processing consistent with an agreement-detector system that have previously proposed.

A new SETX mutation producing AOA2 in two siblings.

Science.gov (United States)

Datta, Neil; Hohler, Anna

2013-09-01

In this paper, we document two cases of a new SETX mutation (820:A>G) combined with an established recessive SETX mutation (5927:T>G) causing ataxia with oculomotor apraxia type 2 (AOA2). The patients had a detailed neurological history and examination performed. Radiological imaging was obtained and genetic analysis was obtained. Both siblings demonstrated healthy and normal growth until adolescence. At that time, slowed speech, hypophonia, dysarthria, extraocular muscle dysfunction and some mild choreiform movements began to appear. Family history included some movement disorder difficulties in second degree relatives. The diagnosis of AOA2 was confirmed by genetic testing. We describe a new SETX gene mutation, which when combined with a recognized SETX mutation results in AOA2. The clinical, radiographic and ancillary testing are described.

Treatment for Apraxia of Speech in Nonfluent Variant Primary Progressive Aphasia

Directory of Open Access Journals (Sweden)

M. L. Henry

2013-01-01

Full Text Available There is a growing body of literature examining the utility of behavioral treatment in primary progressive aphasia (PPA. There are, however, no studies exploring treatment approaches to improve speech production in individuals with apraxia of speech (AOS associated with the nonfluent variant of PPA. The purpose of this study was to examine a novel approach to treatment of AOS in nonfluent PPA. We implemented a treatment method using structured oral reading as a tool for improving production of multisyllabic words in an individual with mild AOS and nonfluent variant PPA. Our participant showed a reduction in speech errors during reading of novel text that was maintained at one year post-treatment. Generalization of improved speech production was observed on repetition of words and sentences and the participant showed stability of speech production over time in connected speech. Results suggest that oral reading treatment may offer an efficient and effective means of addressing multisyllabic word production in AOS associated with nonfluent PPA, with lasting and generalized treatment effects.

Congenital malaria in China.

Directory of Open Access Journals (Sweden)

Zhi-Yong Tao

2014-03-01

Full Text Available BACKGROUND: Congenital malaria, in which infants are directly infected with malaria parasites from their mother prior to or during birth, is a potentially life-threatening condition that occurs at relatively low rates in malaria-endemic regions. It is recognized as a serious problem in Plasmodium falciparum-endemic sub-Saharan Africa, where recent data suggests that it is more common than previously believed. In such regions where malaria transmission is high, neonates may be protected from disease caused by congenital malaria through the transfer of maternal antibodies against the parasite. However, in low P. vivax-endemic regions, immunity to vivax malaria is low; thus, there is the likelihood that congenital vivax malaria poses a more significant threat to newborn health. Malaria had previously been a major parasitic disease in China, and congenital malaria case reports in Chinese offer valuable information for understanding the risks posed by congenital malaria to neonatal health. As most of the literature documenting congenital malaria cases in China are written in Chinese and therefore are not easily accessible to the global malaria research community, we have undertaken an extensive review of the Chinese literature on this subject. METHODS/PRINCIPAL FINDINGS: Here, we reviewed congenital malaria cases from three major searchable Chinese journal databases, concentrating on data from 1915 through 2011. Following extensive screening, a total of 104 cases of congenital malaria were identified. These cases were distributed mainly in the eastern, central, and southern regions of China, as well as in the low-lying region of southwest China. The dominant species was P. vivax (92.50%, reflecting the malaria parasite species distribution in China. The leading clinical presentation was fever, and other clinical presentations were anaemia, jaundice, paleness, diarrhoea, vomiting, and general weakness. With the exception of two cases, all patients

[Identification of risk factors for congenital malformations].

Science.gov (United States)

Canals C, Andrea; Cavada C, Gabriel; Nazer H, Julio

2014-11-01

The relative importance of congenital malformations as a cause of death in the first year of life is increasing along with the control of preventable causes of perinatal mortality. To identify risk factors for congenital malformations. Retrospective case-control study of births registered in the database of The Latin American Collaborative Study of Congenital Malformations (ECLAMC), in the period 2001-2010. Birth weight and gestational age were significantly lower in cases than controls, behaving as risk factors and associated with a greater severity of congenital malformations. The risk and severity of congenital malformations increased along with mother's age. Fetal growth retardation, a history of congenital malformations in the family, physical factors and acute illnesses of the mother in the first trimester of pregnancy were also significant risk factors for congenital malformations and their severity. The educational level of the mother was a protective factor for congenital malformations and their severity. Variables previously identified as risk factors for congenital malformations, were significantly related with the occurrence of congenital malformations and their severity.

Congenital platelet function defects

Science.gov (United States)

... pool disorder; Glanzmann's thrombasthenia; Bernard-Soulier syndrome; Platelet function defects - congenital ... Congenital platelet function defects are bleeding disorders that cause reduced platelet function. Most of the time, people with these disorders have ...

General Concepts in Adult Congenital Heart Disease.

Science.gov (United States)

Mutluer, Ferit Onur; Çeliker, Alpay

2018-01-20

Congenital heart disease in adults (adult congenital heart disease) is a growing burden for healthcare systems. While infant mortality due to congenital heart disease in the last four decades decreased by almost 3-fold, adult congenital heart disease prevalence increased by more than 2-fold in United States. Adult congenital heart disease prevalence is expected to increase steadily until 2050 in projections. Adult congenital heart disease is a multifaceted problem with many dimensions. This manuscript aims to provide an overview of the common adult congenital heart diseases and summarize important points in management of these diseases with possible problems and complications that the patients and the physicians face.

General Concepts in Adult Congenital Heart Disease

Directory of Open Access Journals (Sweden)

Ferit Onur Mutluer

2018-02-01

Full Text Available Congenital heart disease in adults (adult congenital heart disease is a growing burden for healthcare systems. While infant mortality due to congenital heart disease in the last four decades decreased by almost 3-fold, adult congenital heart disease prevalence increased by more than 2-fold in United States. Adult congenital heart disease prevalence is expected to increase steadily until 2050 in projections. Adult congenital heart disease is a multifaceted problem with many dimensions. This manuscript aims to provide an overview of the common adult congenital heart diseases and summarize important points in management of these diseases with possible problems and complications that the patients and the physicians face

Congenital cholesteatoma of the infratemporal fossa with congenital aural atresia and mastoiditis: a case report

Directory of Open Access Journals (Sweden)

Abdel-Aziz Mosaad

2012-06-01

Full Text Available Abstract Background Congenital cholesteatoma may be expected in abnormally developed ear, it may cause bony erosion of the middle ear cleft and extend to the infratemporal fossa. We present the first case of congenital cholesteatoma of the infratemporal fossa in a patient with congenital aural atresia that has been complicated with acute mastoiditis. Case presentation A sixteen year old Egyptian male patient presented with congenital cholesteatoma of the infratemporal fossa with congenital aural atresia complicated with acute mastoiditis. Two weeks earlier, the patient suffered pain necessitating hospital admission, magnetic resonance imaging revealed a soft tissue mass in the right infratemporal fossa. On presentation to our institute, Computerized tomography was done as a routine, it proved the diagnosis of mastoiditis, pure tone audiometry showed an air-bone gap of 60 dB. Cortical mastoidectomy was done for treatment of mastoiditis, removal of congenital cholesteatoma was carried out with reconstruction of external auditory canal. Follow-up of the patient for 2 years and 3 months showed a patent, infection free external auditory canal with an air-bone gap has been reduced to 35db. One year after the operation; MRI was done and it showed no residual or recurrent cholesteatoma. Conclusions Congenital cholesteatoma of the infratemporal fossa in cases of congenital aural atresia can be managed safely even if it was associated with mastoiditis. It is an original case report of interest to the speciality of otolaryngology.

Impaired imitation of meaningless gestures in ideomotor apraxia: a conceptual problem not a disorder of action control? A single case investigation.

Science.gov (United States)

Sunderland, Alan

2007-04-09

A defining characteristic of ideomotor apraxia is an inability to imitate meaningless gestures. This is widely interpreted as being due to difficulties in the formulation or execution of motor programs for complex action, but an alternative view is that there is a higher level cognitive problem in conceptualisation of the target posture. In a single case with inferior left parietal and temporal damage, severely impaired imitation was accompanied by preserved motor skill and spatial awareness but inability to make a conceptual match between the fingers of his own hand and an observed hand. Also, he was able to match pictures of visually similar gestures but not cartoon drawings of gestures which were conceptually the same but visually dissimilar. Knowledge of body structure seemed largely intact as he was only slightly inaccurate in showing correspondences between locations on drawings of a human figure and his own body, or a visually dissimilar figure. This indicated that difficulty on matching gestures was specific to representation of body posture rather than body structure, or that gesture imitation tasks place higher demand on a structural representation of the body. These data imply that for at least some cases of ideomotor apraxia, impaired gesture imitation is due to a deficit in representing the observed posture and is not a deficit in memory for action or of motor control.

Left-Sided Congenital Diaphragmatic Hernia with Multiple Congenital Cardiac Anomalies, Hernia Sac, and Microscopic Hepatic Heterotopia: A Case Report

Directory of Open Access Journals (Sweden)

Maria Arafah

2011-01-01

Full Text Available Congenital diaphragmatic hernia is a common congenital anomaly of uncertain etiology. Its association with multiple congenital anomalies in various organs is well recognized and antenatal radiological evidence of congenital diaphragmatic hernia warrants thorough evaluation to detect other anomalies, some of which can be life threatening. Rarely, heterotopic hepatic tissue is identified in the hernia, a rare pathological finding, exhibiting more than one macroscopic and microscopic characteristics, and always associated with cardiac congenital anomalies. Herein, we report a case of left-sided microscopic heterotopic hepatic tissue in a congenital diaphragmatic hernia in an infant with multiple cardiac congenital anomalies, but with preserved pericardium.

Associations among Measures of Sequential Processing in Motor and Linguistics Tasks in Adults with and without a Family History of Childhood Apraxia of Speech: A Replication Study

Science.gov (United States)

Button, Le; Peter, Beate; Stoel-Gammon, Carol; Raskind, Wendy H.

2013-01-01

The purpose of this study was to address the hypothesis that childhood apraxia of speech (CAS) is influenced by an underlying deficit in sequential processing that is also expressed in other modalities. In a sample of 21 adults from five multigenerational families, 11 with histories of various familial speech sound disorders, 3 biologically…

Congenital Heart Information Network

Science.gov (United States)

... heart defects. Important Notice The Congenital Heart Information Network website is temporarily out of service. Please join ... and Uwe Baemayr for The Congenital Heart Information Network Exempt organization under Section 501(c)3. Copyright © ...

On the nature of the afferent fibers of oculomotor nerve.

Science.gov (United States)

Manni, E; Draicchio, F; Pettorossi, V E; Carobi, C; Grassi, S; Bortolami, R; Lucchi, M L

1989-03-01

The oculogyric nerves contain afferent fibers originating from the ophthalmic territory, the somata of which are located in the ipsilateral semilunar ganglion. These primary sensory neurons project to the Subnucleus Gelatinosus of the Nucleus Caudalis Trigemini, where they make presynaptic contact with the central endings of the primary trigeminal afferents running in the fifth cranial nerve. After complete section of the trigeminal root, the antidromic volleys elicited in the trunk of the third cranial nerve by stimulating SG of NCT consisted of two waves belonging to the A delta and C groups. The area of both components of the antidromic volleys decreased both after bradykinin and hystamine injection into the corresponding cutaneous region and after thermic stimulation of the ipsilateral trigeminal ophthalmic territory. The reduction of such potentials can be explained in terms of collision between the antidromic volleys and those elicited orthodromically by chemical and thermic stimulation. Also, capsaicin applied on the nerve induced an immediate increase, followed by a long lasting decrease, of orthodromic evoked response area. These findings bring further support to the nociceptive nature of the afferent fibers running into the oculomotor nerve.

Early detection of congenital syphilis

Directory of Open Access Journals (Sweden)

Nagalakshmi Chowdhary

2014-01-01

Full Text Available Late congenital syphilis is a very rare clinical entity, and its early diagnosis and treatment is essential. Dental findings often provide valuable evidence for the diagnosis of late congenital syphilis. It occurs due to the transmission of the disease from an infected mother to her fetus through placenta. This long forgotten disease continues to effect pregnant women resulting in perinatal morbidity and mortality. Congenital syphilis is a preventable disease, and its presence reflects a failure of prenatal care delivery system, as well as syphilis control programs. We are reporting a case of late congenital syphilis with only Hutchinson′s teeth.

Genetics Home Reference: critical congenital heart disease

Science.gov (United States)

... Facebook Twitter Home Health Conditions Critical congenital heart disease Critical congenital heart disease Printable PDF Open All Close All ... for Disease Control and Prevention: Congenital Heart Defects Disease InfoSearch: Congenital Heart Defects KidsHealth from Nemours Lucile Packard Children's ...

Congenital Anorectal Malformation Severity Does Not Predict Severity of Congenital Heart Defects

NARCIS (Netherlands)

Jonker, Jara E.; Liem, Eryn T.; Elzenga, Nynke J.; Molenbuur, Bouwe; Trzpis, Monika; Broens, Paul M. A.

2016-01-01

Objective To determine the prevalence of congenital heart defects (CHDs) in patients with mild or severe congenital anorectal malformations (CARMs), and whether all patients with CARM need pediatric cardiology screening. Study design We included 129 patients with CARM born between 2004 and 2013, and

Usefulness of intraoperative electromyographic monitoring of oculomotor and abducens nerves during skull base surgery.

Science.gov (United States)

Li, Zi-Yi; Li, Ming-Chu; Liang, Jian-Tao; Bao, Yu-Hai; Chen, Ge; Guo, Hong-Chuan; Ling, Feng

2017-10-01

Intraoperative neurophysiologic monitoring of the extraocular cranial nerve (EOCN) is not commonly performed because of technical difficulty and risk, reliability of the result and predictability of the postoperative function of the EOCN. We performed oculomotor nerve (CN III) and abducens nerve (CN VI) intraoperative monitoring in patients with skull base surgery by recording the spontaneous muscle activity (SMA) and compound muscle action potential (CMAP). Two types of needle electrodes of different length were percutaneously inserted into the extraocular muscles with the free-hand technique. We studied the relationships between the SMA and CMAP and postoperative function of CN III and CN VI. A total of 23 patients were included. Nineteen oculomotor nerves and 22 abducens nerves were monitored during surgery, respectively. Neurotonic discharge had a positive predictive value of less than 50% and negative predictive value of more than 80% for postoperative CN III and CN VI dysfunction. The latency of patients with postoperative CN III dysfunction was 2.79 ± 0.13 ms, longer than that with intact CN III function (1.73 ± 0.11 ms). One patient had transient CN VI dysfunction, whose CMAP latency (2.54 ms) was longer than that of intact CN VI function (2.11 ± 0.38 ms). There was no statistically significant difference between patients with paresis and with intact function. The method of intraoperative monitoring of EOCNs described here is safe and useful to record responses of SMA and CMAP. Neurotonic discharge seems to have limited value in predicting the postoperative function of CN III and CN VI. The onset latency of CMAP longer than 2.5 ms after tumor removal is probably relevant to postoperative CN III and CN VI dysfunction. However, a definite quantitative relationship has not been found between the amplitude and stimulation intensity of CMAP and the postoperative outcome of CN III and CN VI.

Ultrasound biofeedback treatment for persisting childhood apraxia of speech.

Science.gov (United States)

Preston, Jonathan L; Brick, Nickole; Landi, Nicole

2013-11-01

The purpose of this study was to evaluate the efficacy of a treatment program that includes ultrasound biofeedback for children with persisting speech sound errors associated with childhood apraxia of speech (CAS). Six children ages 9-15 years participated in a multiple baseline experiment for 18 treatment sessions during which treatment focused on producing sequences involving lingual sounds. Children were cued to modify their tongue movements using visual feedback from real-time ultrasound images. Probe data were collected before, during, and after treatment to assess word-level accuracy for treated and untreated sound sequences. As participants reached preestablished performance criteria, new sequences were introduced into treatment. All participants met the performance criterion (80% accuracy for 2 consecutive sessions) on at least 2 treated sound sequences. Across the 6 participants, performance criterion was met for 23 of 31 treated sequences in an average of 5 sessions. Some participants showed no improvement in untreated sequences, whereas others showed generalization to untreated sequences that were phonetically similar to the treated sequences. Most gains were maintained 2 months after the end of treatment. The percentage of phonemes correct increased significantly from pretreatment to the 2-month follow-up. A treatment program including ultrasound biofeedback is a viable option for improving speech sound accuracy in children with persisting speech sound errors associated with CAS.

Fetal chromosome abnormalities and congenital malformations: an ...

African Journals Online (AJOL)

The results also showed that Multiple congenital anomalies (MCA) represented among 42.2%, congenital malformation of CNS represents 26.6%, congenital malformation of the skeletal system 20%, congenital polycystic kidney 8.8% and pyloric stenosis in 2.2%. Among the 21 women with abnormal karyotype of amniotic ...

Bihemispheric stimulation over left and right inferior frontal region enhances recovery from apraxia of speech in chronic aphasia.

Science.gov (United States)

Marangolo, Paola; Fiori, Valentina; Cipollari, Susanna; Campana, Serena; Razzano, Carmelina; Di Paola, Margherita; Koch, Giacomo; Caltagirone, Carlo

2013-11-01

Several studies have already shown that transcranial direct current stimulation (tDCS) is a useful tool for enhancing recovery in aphasia. However, all tDCS studies have previously investigated the effects using unihemisperic stimulation. No reports to date have examined the role of bihemispheric tDCS on aphasia recovery. Here, eight aphasic persons with apraxia of speech underwent intensive language therapy in two different conditions: real bihemispheric anodic ipsilesional stimulation over the left Broca's area and cathodic contralesional stimulation over the right homologue of Broca's area, and a sham condition. In both conditions, patients underwent concurrent language therapy for their apraxia of speech. The language treatment lasted 10 days (Monday to Friday, then weekend off, then Monday to Friday). There was a 14-day intersession interval between the real and the sham conditions. In all patients, language measures were collected before (T0), at the end of (T10) and 1 week after the end of (F/U) treatment. Results showed that after simultaneous excitatory stimulation to the left frontal hemisphere and inhibitory stimulation to the right frontal hemisphere regions, patients exhibited a significant recovery not only in terms of better accuracy and speed in articulating the treated stimuli but also in other language tasks (picture description, noun and verb naming, word repetition, word reading) which persisted in the follow-up session. Taken together, these data suggest that bihemispheric anodic ipsilesional and cathodic contralesional stimulation in chronic aphasia patients may affect the treated function, resulting in a positive influence on different language tasks. © 2013 Federation of European Neuroscience Societies and John Wiley & Sons Ltd.

Hennekam syndrome presenting as nonimmune hydrops fetalis, congenital chylothorax, and congenital pulmonary lymphangiectasia

NARCIS (Netherlands)

Bellini, Carlo; Mazzella, Massimo; Arioni, Cesare; Campisi, Corradino; Taddei, Gioconda; Tomà, Paolo; Boccardo, Francesco; Hennekam, Raoul C.; Serra, Giovanni

2003-01-01

We report a female infant with congenital lymphedema, facial anomalies, intestinal lymphangiectasia consistent with a diagnosis of Hennekam syndrome. At birth the patient presented with severe respiratory distress due to nonimmune hydrops fetalis, a congenital chylothorax (CC), and pulmonary

Moving Up from the Segment: A Comment on Aichert and Ziegler's Syllable Frequency and Syllable Structure in Apraxia of Speech, "Brain and Language," 88, 148-159, 2004

Science.gov (United States)

Varley, Rosemary; Whiteside, Sandra; Windsor, Fay; Fisher, Helen

2006-01-01

In a recent article, Aichert and Ziegler (2004) explore whether apraxia of speech (AOS) can be explained by disruption of the phonetic plans for high frequency syllables. This approach is a hybrid one, combining the notion of a mental syllabary with an explanation that the impairment in AOS results from reduced access to supra-segmental phonetic…

Congenital chylous ascites

International Nuclear Information System (INIS)

Romanska-Kita, J.; Borszewska-Kornacka, M. K.; Rudzinska, I.; Wawrzoniak, T.; Dobrzanska, A.; Czech-Kowalska, J.

2011-01-01

Congenital chylous ascites is a rare entity, conditioned by numerous factors and with changing dynamics of the disease. Because of the lack of therapeutic and diagnostic standards, this disease constitutes to be a medical challenge. This article presents current knowledge on pathogenesis, diagnostics and management of this disease, as well as a case of a newborn with primary congenital chylous ascites in the abdominal cavity. (authors)

Temporal acoustic measures distinguish primary progressive apraxia of speech from primary progressive aphasia.

Science.gov (United States)

Duffy, Joseph R; Hanley, Holly; Utianski, Rene; Clark, Heather; Strand, Edythe; Josephs, Keith A; Whitwell, Jennifer L

2017-05-01

The purpose of this study was to determine if acoustic measures of duration and syllable rate during word and sentence repetition, and a measure of within-word lexical stress, distinguish speakers with primary progressive apraxia of speech (PPAOS) from nonapraxic speakers with the agrammatic or logopenic variants of primary progressive aphasia (PPA), and control speakers. Results revealed that the PPAOS group had longer durations and reduced rate of syllable production for most words and sentences, and the measure of lexical stress. Sensitivity and specificity indices for the PPAOS versus the other groups were highest for longer multisyllabic words and sentences. For the PPAOS group, correlations between acoustic measures and perceptual ratings of AOS were moderately high to high. Several temporal measures used in this study may aid differential diagnosis and help quantify features of PPAOS that are distinct from those associated with PPA in which AOS is not present. Copyright © 2017 Elsevier Inc. All rights reserved.

Resolution of Oculomotor Nerve Palsy Secondary to Posterior Communicating Artery Aneurysms: Comparison of Clipping and Coiling.

Science.gov (United States)

McCracken, D Jay; Lovasik, Brendan P; McCracken, Courtney E; Caplan, Justin M; Turan, Nefize; Nogueira, Raul G; Cawley, C Michael; Dion, Jacques E; Tamargo, Rafael J; Barrow, Daniel L; Pradilla, Gustavo

2015-12-01

Previous studies have attempted to determine the best treatment for oculomotor nerve palsy (ONP) secondary to posterior communicating artery (PCoA) aneurysms, but have been limited by small sample sizes and limited treatment. To analyze the treatment of ONP secondary to PCoA with both coiling and clipping in ruptured and unruptured aneurysms. Data from 2 large academic centers was retrospectively collected over 22 years, yielding a total of 93 patients with ONP secondary to PCoA aneurysms. These patients were combined with 321 patients from the literature review for large data analyses. Onset symptoms, recovery, and time to resolution were evaluated with respect to treatment and aneurysm rupture status. For all patients presenting with ONP (n = 414) 56.6% of those treated with microsurgical clipping made a full recovery vs 41.5% of those treated with endovascular coil embolization (P = .02). Of patients with a complete ONP (n = 229), full recovery occurred in 47.3% of those treated with clipping but in only 20% of those undergoing coiling (P = .01). For patients presenting with ruptured aneurysms (n = 130), full recovery occurred in 70.9% compared with 49.3% coiled patients (P = .01). Additionally, although patients with full ONP recovery had a median time to treatment of 4 days, those without full ONP recovery had a median time to treatment of 7 days (P = .01). Patients with ONP secondary to PCoA aneurysms treated with clipping showed higher rates of full ONP resolution than patients treated with coil embolization. Larger prospective studies are needed to determine the true potential of recovery associated with each treatment. EUH, Emory University HospitalIQR, interquartile rangeJHU, Johns Hopkins UniversitymRS, modified Rankin ScaleONP, oculomotor nerve palsyPCoA, posterior communicating arterySAH, subarachnoid hemorrhage.

Optogenetic perturbations reveal the dynamics of an oculomotor integrator

Directory of Open Access Journals (Sweden)

Pedro J Goncalves

2014-02-01

Full Text Available Many neural systems can store short-term information in persistently firing neurons. Such persistent activity is believed to be maintained by recurrent feedback among neurons. This hypothesis has been fleshed out in detail for the oculomotor integrator (OI for which the so-called line attractor network model can explain a large set of observations. Here we show that there is a plethora of such models, distinguished by the relative strength of recurrent excitation and inhibition. In each model, the firing rates of the neurons relax towards the persistent activity states. The dynamics of relaxation can be quite different, however, and depend on the levels of recurrent excitation and inhibition. To identify the correct model, we directly measure these relaxation dynamics by performing optogenetic perturbations in the OI of zebrafish expressing halorhodopsin or channelrhodopsin. We show that instantaneous, inhibitory stimulations of the OI lead to persistent, centripetal eye position changes ipsilateral to the stimulation. Excitatory stimulations similarly cause centripetal eye position changes, yet only contralateral to the stimulation. These results show that the dynamics of the OI are organized around a central attractor state---the null position of the eyes---which stabilizes the system against random perturbations. Our results pose new constraints on the circuit connectivity of the system and provide new insights into the mechanisms underlying persistent activity.

Congenital and perinatal cytomegalovirus infection

Directory of Open Access Journals (Sweden)

Chun Soo Kim

2010-01-01

Full Text Available Cytomegalovirus (CMV is currently the most common agent of congenital infection and the leading infectious cause of brain damage and hearing loss in children. Symptomatic congenital CMV infections usually result from maternal primary infection during early pregnancy. One half of symptomatic infants have cytomegalic inclusion disease (CID, which is characterized by involvement of multiple organs, in particular, the reticuloendothelial and central nervous system (CNS. Moreover, such involvement may or may not include ocular and auditory damage. Approximately 90% of infants with congenital infection are asymptomatic at birth. Preterm infants with perinatal CMV infection can have symptomatic diseases such as pneumonia, hepatitis, and thrombocytopenia. Microcephaly and abnormal neuroradiologic imaging are associated with a poor prognosis. Hearing loss may occur in both symptomatic and asymptomatic infants with congenital infection and may progress through childhood. Congenital infection is defined by the isolation of CMV from infants within the first 3 weeks of life. Ganciclovir therapy can be considered for infants with symptomatic congenital CMV infection involving the CNS. Pregnant women of seronegative state should be counseled on the importance of good hand washing and other control measures to prevent CMV infection. Heat treatment of infected breast milk at 72?#608;for 5 seconds can eliminate CMV completely.

Understanding the nature of apraxia of speech: Theory, analysis, and treatment

Directory of Open Access Journals (Sweden)

Kirrie J. Ballard

2010-08-01

Full Text Available Researchers have interpreted the behaviours of individuals with acquired apraxia of speech (AOS as impairment of linguistic phonological processing, motor control, or both. Acoustic, kinematic, and perceptual studies of speech in more recent years have led to significant advances in our understanding of the disorder and wide acceptance that it affects phonetic - motoric planning of speech. However, newly developed methods for studying nonspeech motor control are providing new insights, indicating that the motor control impairment of AOS extends beyond speech and is manifest in nonspeech movements of the oral structures. We present the most recent developments in theory and methods to examine and define the nature of AOS. Theories of the disorder are then related to existing treatment approaches and the efficacy of these approaches is examined. Directions for development of new treatments are posited. It is proposed that treatment programmes driven by a principled account of how the motor system learns to produce skilled actions will provide the most efficient and effective framework for treating motorbased speech disorders. In turn, well controlled and theoretically motivated studies of treatment efficacy promise to stimulate further development of theoretical accounts and contribute to our understanding of AOS.

Multifocal Congenital Hemangiopericytoma.

Science.gov (United States)

Robl, Renata; Carvalho, Vânia Oliveira; Abagge, Kerstin Taniguchi; Uber, Marjorie; Lichtvan, Leniza Costa Lima; Werner, Betina; Mehrdad Nadji, Mehrdad

2017-01-01

Congenital hemangiopericytoma (HPC) is a rare mesenchymal tumor with less aggressive behavior and a more favorable prognosis than similar tumors in adults. Multifocal presentation is even less common than isolated HPC and hence its clinical and histologic recognition may be challenging. A newborn infant with multifocal congenital HPC causing severe deformity but with a favorable outcome after chemotherapy and surgical removal is reported. © 2016 Wiley Periodicals, Inc.

Educational series in congenital heart disease:Congenital left-sided heart obstruction

OpenAIRE

Carr, Michelle; Curtis, Stephanie; Marek, Jan

2018-01-01

Congenital obstruction of the left ventricular outflow tract remains a significant problem and multilevel obstruction can often coexist. Obstruction can take several morphological forms and may involve the subvalvar, valvar or supravalvar portion of the aortic valve complex. Congenital valvar stenosis presenting in the neonatal period represents a spectrum of disorders ranging from the hypoplastic left heart syndrome to almost normal hearts. Treatment options vary dependent on the severity of...

Oculomotor neurocircuitry, a structural connectivity study of infantile nystagmus syndrome.

Directory of Open Access Journals (Sweden)

Nasser H Kashou

Full Text Available Infantile nystagmus syndrome (INS is one of the leading causes of significant vision loss in children and affects about 1 in 1000 to 6000 births. In the present study, we are the first to investigate the structural pathways of patients and controls using diffusion tensor imaging (DTI. Specifically, three female INS patients from the same family were scanned, two sisters and a mother. Six regions of interest (ROIs were created manually to analyze the number of tracks. Additionally, three ROI masks were analyzed using TBSS (Tract-Based Spatial Statistics. The number of fiber tracks was reduced in INS subjects, compared to normal subjects, by 15.9%, 13.9%, 9.2%, 18.6%, 5.3%, and 2.5% for the pons, cerebellum (right and left, brainstem, cerebrum, and thalamus. Furthermore, TBSS results indicated that the fractional anisotropy (FA values for the patients were lower in the superior ventral aspects of the pons of the brainstem than in those of the controls. We have identified some brain regions that may be actively involved in INS. These novel findings would be beneficial to the neuroimaging clinical and research community as they will give them new direction in further pursuing neurological studies related to oculomotor function and provide a rational approach to studying INS.

Impact of speech-generating devices on the language development of a child with childhood apraxia of speech: a case study.

Science.gov (United States)

Lüke, Carina

2016-01-01

The purpose of the study was to evaluate the effectiveness of speech-generating devices (SGDs) on the communication and language development of a 2-year-old boy with severe childhood apraxia of speech (CAS). An A-B design was used over a treatment period of 1 year, followed by three additional follow-up measurements, in order to evaluate the implementation of SGDs in the speech therapy of a 2;7-year-old boy with severe CAS. In total, 53 therapy sessions were videotaped and analyzed to better understand his communicative (operationalized as means of communication) and linguistic (operationalized as intelligibility and consistency of speech-productions, lexical and grammatical development) development. The trend-lines of baseline phase A and intervention phase B were compared and percentage of non-overlapping data points were calculated to verify the value of the intervention. The use of SGDs led to an immediate increase in the communicative development of the child. An increase in all linguistic variables was observed, with a latency effect of eight to nine treatment sessions. The implementation of SGDs in speech therapy has the potential to be highly effective in regards to both communicative and linguistic competencies in young children with severe CAS. Implications for Rehabilitation Childhood apraxia of speech (CAS) is a neurological speech sound disorder which results in significant deficits in speech production and lead to a higher risk for language, reading and spelling difficulties. Speech-generating devices (SGD), as one method of augmentative and alternative communication (AAC), can effectively enhance the communicative and linguistic development of children with severe CAS.

Genetics Home Reference: congenital mirror movement disorder

Science.gov (United States)

... Health Conditions Congenital mirror movement disorder Congenital mirror movement disorder Printable PDF Open All Close All Enable ... view the expand/collapse boxes. Description Congenital mirror movement disorder is a condition in which intentional movements ...

Radiology of congenital heart disease

International Nuclear Information System (INIS)

Amplatz, K.

1986-01-01

This is a text on the radiologic diagnosis of congenital heart disease and its clinical manifestations. The main thrust of the book is the logical approach which allows an understanding of the complex theory of congenital heart disease. The atlas gives a concise overview of the entire field of congenital heart disease. Emphasis is placed on the understanding of the pathophysiology and its clinical and radiological consequences. Surgical treatment is included since it provides a different viewpoint of the anatomy

The oculomotor system of decapod cephalopods: eye muscles, eye muscle nerves, and the oculomotor neurons in the central nervous system.

Science.gov (United States)

Budelmann, B U; Young, J Z

1993-04-29

Fourteen extraocular eye muscles are described in the decapods Loligo and Sepioteuthis, and thirteen in Sepia; they are supplied by four eye muscle nerves. The main action of most of the muscles is a linear movement of the eyeball, only three muscles produce strong rotations. The arrangement, innervation and action of the decapod eye muscles are compared with those of the seven eye muscles and seven eye muscle nerves in Octopus. The extra muscles in decapods are attached to the anterior and superior faces of the eyes. At least, the anterior muscles, and presumably also the superior muscles, are concerned with convergent eye movements for binocular vision during fixation and capture of prey by the tentacles. The remaining muscles are rather similar in the two cephalopod groups. In decapods, the anterior muscles include conjunctive muscles; these cross the midline and each presumably moves both eyes at the same time during fixation. In the squids Loligo and Sepioteuthis there is an additional superior conjunctive muscle of perhaps similar function. Some of the anterior muscles are associated with a narrow moveable plate, the trochlear cartilage; it is attached to the eyeball by trochlear membranes. Centripetal cobalt fillings showed that all four eye muscle nerves have fibres that originate from somata in the ipsilateral anterior lateral pedal lobe, which is the oculomotor centre. The somata of the individual nerves show different but overlapping distributions. Bundles of small presumably afferent fibres were seen in two of the four nerves. They do not enter the anterior lateral pedal lobe but run to the ventral magnocellular lobe; some afferent fibres enter the brachio-palliovisceral connective and run perhaps as far as the palliovisceral lobe.

Weighted integration of short-term memory and sensory signals in the oculomotor system.

Science.gov (United States)

Deravet, Nicolas; Blohm, Gunnar; de Xivry, Jean-Jacques Orban; Lefèvre, Philippe

2018-05-01

Oculomotor behaviors integrate sensory and prior information to overcome sensory-motor delays and noise. After much debate about this process, reliability-based integration has recently been proposed and several models of smooth pursuit now include recurrent Bayesian integration or Kalman filtering. However, there is a lack of behavioral evidence in humans supporting these theoretical predictions. Here, we independently manipulated the reliability of visual and prior information in a smooth pursuit task. Our results show that both smooth pursuit eye velocity and catch-up saccade amplitude were modulated by visual and prior information reliability. We interpret these findings as the continuous reliability-based integration of a short-term memory of target motion with visual information, which support modeling work. Furthermore, we suggest that saccadic and pursuit systems share this short-term memory. We propose that this short-term memory of target motion is quickly built and continuously updated, and constitutes a general building block present in all sensorimotor systems.

Congenital obstructive posterior urethral membranes and recurrent urinary tract infection: a rare case of congenital hypertrophy of the verumontanum

Directory of Open Access Journals (Sweden)

Diana Bancin

2015-03-01

Full Text Available Congenital obstructive posterior urethral membranes (COPUM is a complex disease closely related to several pathological changes in kidney development and function, as a result of urinary reflux since in utero. This congenital anomaly of urinary tract potentially causes hydroureteronephrosis that is often associated with recurrent urinary tract infections and, ultimately, one of the most common causes of end-stage renal disease in children.1,2 Congenital hypertrophy of the verumontanum as part of COPUM is very rare. Only a few reports have been written on congenital hypertrophy of the vermontanum causing congenital obstructive uropathy.3-6

Congenital cataract screening

Directory of Open Access Journals (Sweden)

Zhale Rajavi

2016-01-01

Full Text Available Congenital cataract is a leading cause of visual deprivation which can damage the developing visual system of a child; therefore early diagnosis, management and long-term follow-up are essential. It is recommended that all neonates be screened by red reflex examination at birth and suspected cases be referred to ophthalmic centers. Early surgery (1 year is highly recommended. After surgery, amblyopia treatment and periodic follow-up examinations should be started as soon as possible to achieve a satisfactory visual outcome. Practitioners should consider the possibility of posterior capsular opacity, elevated intraocular pressure and amblyopia during follow-up, especially in eyes with microphthalmia and/or associated congenital anomalies. All strabismic children should undergo slit lamp examination prior to strabismus surgery to rule out congenital lens opacities. From a social point of view, equal and fair medical care should be provided to all children regardless of gender.

Nitrofurantoin and congenital abnormalities

DEFF Research Database (Denmark)

Czeizel, A.E.; Rockenbauer, M.; Sørensen, Henrik Toft

2001-01-01

or fetuses with Down’s syndrome (patient controls), 23 (2.8%) pregnant women were treated with nitrofurantoin. The above differences between population controls and cases may be connected with recall bias, because the case-control pair analysis did not indicate a teratogenic potential of nitrofurantoin use......Objective: To study human teratogenic potential of oral nitrofurantoin treatment during pregnancy. Materials and Methods: Pair analysis of cases with congenital abnormalities and matched population controls in the population-based dataset of the Hungarian Case-Control Surveillance of Congenital...... during the second and the third months of gestation, i.e. in the critical period for major congenital abnormalities. Conclusion: Treatment with nitrofurantoin during pregnancy does not present detectable teratogenic risk to the fetus....

[Congenital cardiopathy and cerebral abscess].

Science.gov (United States)

Paixão, A; de Andrade, F F; Sampayo, F

1989-01-01

During 1986 the authors came across two cases of brain abscess among children with congenital heart disease followed at the Pediatric Cardiology Service and decided to evaluate their global experience on the subject. In a retrospective study of 860 infants and children with cyanotic congenital heart disease and final diagnosis, there were four cases complicated with brain abscess. The following items were evaluated: prevalence of the complication, type of congenital heart disease, date and age at the diagnosis of brain abscess, diagnostic methods, neurosurgical treatment and results. The main findings were: all patients were above two years of age and had noncorrected cyanotic congenital heart disease belonging to the classic high risk group; the first two cases had been treated in other institutions and only scanty information was available; two recent cases had early diagnosis on CAT scan followed by neurosurgical treatment. All children survived. brain abscess is a rare but severe complication occurring in patients with noncorrected cyanotic congenital heart disease above two years of age; whenever prevention turns impossible, early diagnosis and treatment provide good short term and long term results. A multidisciplinar approach with full cooperation is advocated.

Symptoms of Autism Among Children with Congenital Deafblindness

DEFF Research Database (Denmark)

Dammeyer, Jesper Herup

2014-01-01

concerning individuals with congenital deafblindness. This study examines symptoms of autism among 71 children with congenital deafblindness using the Autism Behavior Checklist. The cohort of children with congenital deafblindness was found to have symptoms of autism on a level similar to children......Associations between congenital deafness or blindness and autism have been found. The main consequences of congenital sensory impairment, being barriers for communication, language and social interaction development, may lead to symptoms of autism. To date only few studies have been reported...... with another developmental disorder than autism for example intellectual disability. No association was found between severity of congenital sensory impairment and severity or type of symptoms of autism....

Angiographic features of rapidly involuting congenital hemangioma (RICH)

Energy Technology Data Exchange (ETDEWEB)

Konez, Orhan; Burrows, Patricia E. [Department of Radiology, Children' s Hospital Boston, Harvard Medical School, 300 Longwood Avenue, Boston, MA 02115 (United States); Mulliken, John B. [Division of Plastic Surgery, Children' s Hospital Boston, Harvard Medical School, 300 Longwood Avenue, Boston, MA 02115 (United States); Fishman, Steven J. [Department of Pediatric Surgery, Children' s Hospital Boston, Harvard Medical School, 300 Longwood Avenue, Boston, MA 02115 (United States); Kozakewich, Harry P.W. [Department of Pathology, Children' s Hospital Boston, Harvard Medical School, 300 Longwood Avenue, Boston, MA 02115 (United States)

2003-01-01

Rapidly involuting congenital hemangioma (RICH) is a recently recognized entity in which the vascular tumor is fully developed at birth and undergoes rapid involution. Angiographic findings in two infants with congenital hemangioma are reported and compared with a more common postnatal infantile hemangioma and a congenital infantile fibrosarcoma. Congenital hemangiomas differed from infantile hemangiomas angiographically by inhomogeneous parenchymal staining, large and irregular feeding arteries in disorganized patterns, arterial aneurysms, direct arteriovenous shunts, and intravascular thrombi. Both infants had clinical evidence of a high-output cardiac failure and intralesional bleeding. This congenital high-flow vascular tumor is difficult to distinguish angiographically from arteriovenous malformation and congenital infantile fibrosarcoma. (orig.)

Congenital hearing impairment

Energy Technology Data Exchange (ETDEWEB)

Robson, Caroline D. [Children' s Hospital and Harvard Medical School, Division of Neuroradiology, Department of Radiology, Boston, MA (United States)

2006-04-15

Establishing the etiology of congenital hearing impairment can significantly improve treatment for certain causes of hearing loss and facilitates genetic counseling. High-resolution CT and MRI have contributed to the evaluation and management of hearing impairment. In addition, with the identification of innumerable genetic loci and genetic defects involved in hearing loss, genetic testing has emerged as an invaluable tool in the assessment of hearing impairment. Some of the common forms of congenital hearing loss are reviewed and their imaging features illustrated. (orig.)

Congenital hearing impairment

International Nuclear Information System (INIS)

Robson, Caroline D.

2006-01-01

Establishing the etiology of congenital hearing impairment can significantly improve treatment for certain causes of hearing loss and facilitates genetic counseling. High-resolution CT and MRI have contributed to the evaluation and management of hearing impairment. In addition, with the identification of innumerable genetic loci and genetic defects involved in hearing loss, genetic testing has emerged as an invaluable tool in the assessment of hearing impairment. Some of the common forms of congenital hearing loss are reviewed and their imaging features illustrated. (orig.)

Congenital hypothyroidism presenting with postpartum bradycardia

International Nuclear Information System (INIS)

Kara, S.; Tayman, C.; Tonbul, A.; Tatli, M.; Andiran, N.; Turkay, S.

2013-01-01

Congenital hypothyroidism is a clinical condition characterized by lack of thyroid hormone because of thyroid gland developmental and thyroid hormone biosynthesis disorders. The most common cause of permanent hypothyroidism is congenital factors. Prompt diagnosis is critical. However, overt signs of hypothyroidism are rarely present at birth, and 95% of affected babies are asymptomatic. Hypoxemia, apnea, acidosis, increased intracranial pressure, vagal stimulus and central nerve system abnormalities represent the most common causes of bradycardia in the neonate. Bradycardia associated with congenital hypothyroidism is very rare. In this paper, a case of severe congenital hypothyroidism, induced by maternal blocker antibodies, who presented with bradycardia, is reported. (author)

Congenital rubella syndrome and delayed manifestations

DEFF Research Database (Denmark)

Dammeyer, Jesper Herup

2010-01-01

Objective: Several hypotheses of different medical and psychological delayed manifestations among people who have congenital rubella syndrome (CRS) have been discussed. This study tests some of these hypotheses of delayed manifestations. Methods: Gathering information about 35 individuals who hav...... which people with CRS face must primarily be understood in relation to congenital deafblindness and dual sensory and communicative deprivation....... CRS and who are congenitally deafblind. Results: None of the hypotheses could be confirmed when individuals with CRS were compared to a control group of individuals who were congenital deafblind with different aetiology than CRS. Conclusions: This study concludes that those health related problems...

Health in adults with congenital heart disease.

Science.gov (United States)

Cuypers, Judith A A E; Utens, Elisabeth M W J; Roos-Hesselink, Jolien W

2016-09-01

Since the introduction of cardiac surgery, the prospects for children born with a cardiac defect have improved spectacularly. Many reach adulthood and the population of adults with congenital heart disease is increasing and ageing. However, repair of congenital heart disease does not mean cure. Many adults with congenital heart disease encounter late complications. Late morbidity can be related to the congenital heart defect itself, but may also be the consequence of the surgical or medical treatment or longstanding alterations in hemodynamics, neurodevelopment and psychosocial development. This narrative review describes the cardiac and non-cardiac long-term morbidity in the adult population with congenital heart disease. Copyright © 2016 Elsevier Ireland Ltd. All rights reserved.

Behavioural, computational, and neuroimaging studies of acquired apraxia of speech

Directory of Open Access Journals (Sweden)

Kirrie J Ballard

2014-11-01

Full Text Available A critical examination of speech motor control depends on an in-depth understanding of network connectivity associated with Brodmann areas 44 and 45 and surrounding cortices. Damage to these areas has been associated with two conditions - the speech motor programming disorder apraxia of speech (AOS and the linguistic / grammatical disorder of Broca’s aphasia. Here we focus on AOS, which is most commonly associated with damage to posterior Broca's area and adjacent cortex. We provide an overview of our own studies into the nature of AOS, including behavioral and neuroimaging methods, to explore components of the speech motor network that are associated with normal and disordered speech motor programming in AOS. Behavioral, neuroimaging, and computational modeling studies are indicating that AOS is associated with impairment in learning feedforward models and/or implementing feedback mechanisms and with the functional contribution of BA6. While functional connectivity methods are not yet routinely applied to the study of AOS, we highlight the need for focusing on the functional impact of localised lesions throughout the speech network, as well as larger scale comparative studies to distinguish the unique behavioral and neurological signature of AOS. By coupling these methods with neural network models, we have a powerful set of tools to improve our understanding of the neural mechanisms that underlie AOS, and speech production generally.

Inadvertent chest tube insertion in congenital cystic adenomatoid malformation and congenital lobar emphysema-highlighting an important problem

International Nuclear Information System (INIS)

Prabhu, Shailesh M; Choudhury, Subhasis Roy; Solanki, Ravi S; Shetty, Gurucharan S; Agarwala, Surenderkumar

2013-01-01

Chest tube insertion in congenital cystic lung lesions is an important problem in children with acute respiratory distress having a cystic lucent lesion on chest radiograph. To evaluate the imaging findings and complications in cases of congenital cystic lung lesions with chest tube insertion and suggest the role of appropriate imaging for management of these patients. Chest radiographs and CT scans of children with congenital cystic lung lesions who had inadvertent chest tube insertion preoperatively were retrospectively reviewed for imaging appearances and complications. Fifteen patients comprising 10 cases of congenital cystic adenomatoid malformation (CCAM) and 5 cases of congenital lobar emphysema (CLE) were included. Majority of the cases were infants. CCAM was misdiagnosed as complicated pneumatocele (n = 5) and pneumothorax (n = 5), while CLE was misdiagnosed as tension pneumothorax (n = 5) on the chest radiograph findings. Final diagnosis was made on CT and operative findings with histopathology. Complications noted were pneumothorax, hydropneumothorax, and infection in cases of CCAM, and change in imaging appearance and pneumothorax in cases of CLE. Chest tube insertion in congenital cystic lesions increases the rate of associated complications. Chest CT has a definite role in early diagnosis and deciding appropriate management in these cases

The prevalence of congenital anomalies in Europe

DEFF Research Database (Denmark)

Dolk, Helen; Loane, Maria; Garne, Ester

2010-01-01

EUROCAT (European Surveillance of Congenital Anomalies) is the network of population-based registers of congenital anomaly in Europe, with a common protocol and data quality review, covering 1.5 million annual births in 22 countries. EUROCAT recorded a total prevalence of major congenital anomali...

Inconsistency of speech in children with childhood apraxia of speech, phonological disorders, and typical speech

Science.gov (United States)

Iuzzini, Jenya

There is a lack of agreement on the features used to differentiate Childhood Apraxia of Speech (CAS) from Phonological Disorders (PD). One criterion which has gained consensus is lexical inconsistency of speech (ASHA, 2007); however, no accepted measure of this feature has been defined. Although lexical assessment provides information about consistency of an item across repeated trials, it may not capture the magnitude of inconsistency within an item. In contrast, segmental analysis provides more extensive information about consistency of phoneme usage across multiple contexts and word-positions. The current research compared segmental and lexical inconsistency metrics in preschool-aged children with PD, CAS, and typical development (TD) to determine how inconsistency varies with age in typical and disordered speakers, and whether CAS and PD were differentiated equally well by both assessment levels. Whereas lexical and segmental analyses may be influenced by listener characteristics or speaker intelligibility, the acoustic signal is less vulnerable to these factors. In addition, the acoustic signal may reveal information which is not evident in the perceptual signal. A second focus of the current research was motivated by Blumstein et al.'s (1980) classic study on voice onset time (VOT) in adults with acquired apraxia of speech (AOS) which demonstrated a motor impairment underlying AOS. In the current study, VOT analyses were conducted to determine the relationship between age and group with the voicing distribution for bilabial and alveolar plosives. Findings revealed that 3-year-olds evidenced significantly higher inconsistency than 5-year-olds; segmental inconsistency approached 0% in 5-year-olds with TD, whereas it persisted in children with PD and CAS suggesting that for child in this age-range, inconsistency is a feature of speech disorder rather than typical development (Holm et al., 2007). Likewise, whereas segmental and lexical inconsistency were

Hip dysplasia and congenital hip dislocation

Energy Technology Data Exchange (ETDEWEB)

Lingg, G.; Nebel, G.; von Torklus, D.

1981-11-01

In human genetics and orthopedics quite different answers have been given to the question of hereditary transmission and frequency of hip dysplasia in families of children with congenital hip dislocation. We therefore have made roentgenometric measurements of 110 parents of children with congenital hip dislocation. In 25% we found abnormal flat acetabulae, whereas 12% had pathologic deep hips. This may propose a new concept of morphology of congenital hip dysplasia.

RISK FACTORS IN CHILD CONGENITAL MALFORMATIONS

OpenAIRE

Alina-Costina LUCA; Mirabela SUBOTNICU

2015-01-01

Congenital heart malformations are among the most common congenital malformations. Congenital heart malformations occur due to genetic and environmental factors during embryonic morphogenesis period of the heart. About 25% of these malformations are severe, requiring intervention immediately after birth or in infancy. Abnormalities of structure and function of the heart and great vessels are the consequence of teratogenic factors occurring between day 19 and 45 of gestation. (Yagel et al...

Congenital Anorectal Malformation Severity Does Not Predict Severity of Congenital Heart Defects.

Science.gov (United States)

Jonker, Jara E; Liem, Eryn T; Elzenga, Nynke J; Molenbuur, Bouwe; Trzpis, Monika; Broens, Paul M A

2016-12-01

To determine the prevalence of congenital heart defects (CHDs) in patients with mild or severe congenital anorectal malformations (CARMs), and whether all patients with CARM need pediatric cardiology screening. We included 129 patients with CARM born between 2004 and 2013, and referred to University Medical Center Groningen. Recto-perineal and recto-vestibular fistulas were classified as mild CARMs, all others as severe. Significant patent foramen ovale, secundum atrial septal defect, and small ventricular septum defect were classified as minor CHDs, all others as major. Of 129 patients with CARM, 67% had mild CARM, 33% severe CARM, and 17% were additionally diagnosed with CHD. CHDs were distributed equally in patients with mild or severe CARMs. Patients with multiple congenital abnormalities were more frequently diagnosed with CHD (n = 16, 36%) than patients without multiple congenital malformations (n = 5, 9%, P = .001). Patients with CARM diagnosed with CHD using pediatric cardiac echo screening were younger than 3 months of age at diagnosis. Earlier general pediatric examinations missed 7 (50%) children with mild and 4 (50%) with severe CHDs. The severity of CARM could predict neither prevalence nor severity of CHD. More than one-half of CHDs were missed during the first physical examination. No new CHDs were found in patients older than 3 months of age at the time CARMs were diagnosed. We recommend screening all patients with CARM younger than 3 months of age for CHD at the time CARM is diagnosed. Preoperative echocardiography should be the rule in children younger than 3 months of age and with multiple congenital anomalies. Copyright © 2016 Elsevier Inc. All rights reserved.

Pseudoamblyopia in Congenital Cyclotropia

Directory of Open Access Journals (Sweden)

Antonio Frattolillo

2017-01-01

Full Text Available Purpose. To study the effect of surgery on amblyopia and suppression associated with congenital cyclovertical strabismus. Methods. The fixation pattern was investigated with microperimetry before and soon after surgery in ten consecutive children operated for congenital superior oblique palsy at the S. Martino Hospital, Belluno, Italy, between September 2014 and December 2015. Changes in visual performance in terms of best-corrected visual acuity (BCVA and stereopsis between the day before and one week after surgery were also evaluated. No other amblyopia treatment has been administered during the time study. Results. Surgical correction of the excyclodeviation in congenital SO palsy determined monocular and binocular sensory consequences: monocularly, in the cyclodeviated amblyopic eye, BCVA (0.46–0.03 LogMAR; p<0.0001 and the fixation pattern improved, as demonstrated by microperimetry examination. Binocularly, stereopsis improved or emerged while suppression at the Worth four-dot test disappeared. Conclusions. In the absence of further amblyopic factors such as coexisting constant vertical and/or horizontal deviation and anisometropia, the amblyopia encountered in congenital SO palsy may resolve soon after the surgical alignment. Therefore, it may be considered and defined “pseudoamblyopia.”

Self-Judgments of Word Production Accuracy in Acquired Apraxia of Speech.

Science.gov (United States)

Wambaugh, Julie; Shuster, Linda; Bailey, Dallin J; Mauszycki, Shannon; Kean, Jacob; Nessler, Christina; Wright, Sandra; Brunsvold, Jessica

2016-12-01

The ability to recognize one's own speech errors has long been considered a clinical feature of acquired apraxia of speech (AOS) despite limited empirical data supporting this notion. This study was designed to (a) investigate the ability of speakers with AOS to self-judge the accuracy of their own word productions and (b) examine the test-retest stability of a measure to quantify the self-judgments of speakers with AOS. Twenty-four speakers with AOS and aphasia repeated mono- and multisyllabic words. After each word, they indicated whether their production was correct or incorrect. This procedure was repeated 1 week later to examine performance stability. Percentage of incorrect word productions was stable for the group across times. Accuracy of judgments ranged from 64% to 100% at Time 1 and from 56% to 100% at Time 2. Inaccurate judgments of error productions (false positives) occurred much more frequently than inaccurate judgments of correct productions (false negatives). Error production was remarkably stable in our participants. As a group, the participants failed to detect almost one third of words produced erroneously. However, accuracy and stability of judgments over sampling times varied across participants. Findings suggest that error awareness might be a worthwhile target for treatment in some individuals with AOS.

Congenital toxoplasmosis.

Science.gov (United States)

Kieffer, François; Wallon, Martine

2013-01-01

Congenital toxoplasmosis results from the transplacental transmission of the parasite Toxoplasma gondii after a maternal infection acquired in pregnancy. Prevalence of congenital infection ranges from 0.1 to 0.3 per 1000 live births. The maternal-fetal transmission rate increases with gestational age at maternal seroconversion, from less than 15% at 13 weeks of gestation to over 70% at 36 weeks. Conversely, the later the maternal infection, the lower the risk of symptomatic congenital infection (infections acquired during the third trimester are most often asymptomatic at birth). Prenatal diagnosis is currently performed by PCR analysis in amniotic fluid. Antenatal management and treatment vary considerably among countries. In some European countries, maternal infections are detected through serological screening allowing a prompt treatment with spiramycin, which is expected to reduce the risk of vertical transmission. If PCR analysis in amniotic fluid is positive or if maternal infection was acquired in the third trimester of pregnancy, a combination with pyrimethamine and sulphonamide is given until delivery. Benefits of antenatal treatments remain controversial. Infected newborns are prescribed pyrimethamine and sulphonamide for 12 months. Despite antenatal and postnatal treatment, chorioretinitis can occur at any age (prevalence>20% at 10 years of age): long-term ophthalmological follow-up remains necessary. Copyright © 2013 Elsevier B.V. All rights reserved.

Primary progressive apraxia of speech: clinical features and acoustic and neurologic correlates.

Science.gov (United States)

Duffy, Joseph R; Strand, Edythe A; Clark, Heather; Machulda, Mary; Whitwell, Jennifer L; Josephs, Keith A

2015-05-01

This study summarizes 2 illustrative cases of a neurodegenerative speech disorder, primary progressive apraxia of speech (AOS), as a vehicle for providing an overview of the disorder and an approach to describing and quantifying its perceptual features and some of its temporal acoustic attributes. Two individuals with primary progressive AOS underwent speech-language and neurologic evaluations on 2 occasions, ranging from 2.0 to 7.5 years postonset. Performance on several tests, tasks, and rating scales, as well as several acoustic measures, were compared over time within and between cases. Acoustic measures were compared with performance of control speakers. Both patients initially presented with AOS as the only or predominant sign of disease and without aphasia or dysarthria. The presenting features and temporal progression were captured in an AOS Rating Scale, an Articulation Error Score, and temporal acoustic measures of utterance duration, syllable rates per second, rates of speechlike alternating motion and sequential motion, and a pairwise variability index measure. AOS can be the predominant manifestation of neurodegenerative disease. Clinical ratings of its attributes and acoustic measures of some of its temporal characteristics can support its diagnosis and help quantify its salient characteristics and progression over time.

Radiographic observation of congenital diaphragmatic hernia

International Nuclear Information System (INIS)

Rhee, Chung Sik

1973-01-01

Five cases of congenital diaphragmatic hernia. Case 1: A female infant, birth weight 2.25 kg, Apgar score 10, normal delivery at 11:33 P.M. on Feb.8, 1972. Lt side congenital diaphragmatic hernia. Case 2: A female infant, birth weight 1.48 kg, Apgar score 5, normal delivery at 11:20 A.M. on Oct.14, 1972. Lt. side congenital diaphragmatic hernia. This infant was twin. this infant's mother was toxemia. Case 3; A 33 years old women was admitted to the our hospital because of Lt.hip joint pain without other symptoms. Date of admission: Jan. 8, 1973. Rt side congenital diaphragmentic hernia. Case 4: A 4 month infant male was admitted to the our hospital because of vomiting, dyspnea and abdominal pain. He had cyanosis intermittently after one month ago. This infant was normal delivered. The family history was not contributory. Date of admission: This infant was normal delivered. The family history was not contributory. Date of admission: Aug. 30, 1971. Rt side congenital diaphragmatic hernia. Case 5: A 13 years old girl was admitted to our hospital because of general weakness without other symptoms. This patient was normal delivered. The family history was not contributory. Date of admission: March. 15, 1973. Lt. side congenital diaphragmentic hernia

Radiographic observation of congenital diaphragmatic hernia

Energy Technology Data Exchange (ETDEWEB)

Rhee, Chung Sik [Ewha Women' s University College of Medicine, Seoul (Korea, Republic of)

1973-12-15

Five cases of congenital diaphragmatic hernia. Case 1: A female infant, birth weight 2.25 kg, Apgar score 10, normal delivery at 11:33 P.M. on Feb.8, 1972. Lt side congenital diaphragmatic hernia. Case 2: A female infant, birth weight 1.48 kg, Apgar score 5, normal delivery at 11:20 A.M. on Oct.14, 1972. Lt. side congenital diaphragmatic hernia. This infant was twin. this infant's mother was toxemia. Case 3; A 33 years old women was admitted to the our hospital because of Lt.hip joint pain without other symptoms. Date of admission: Jan. 8, 1973. Rt side congenital diaphragmentic hernia. Case 4: A 4 month infant male was admitted to the our hospital because of vomiting, dyspnea and abdominal pain. He had cyanosis intermittently after one month ago. This infant was normal delivered. The family history was not contributory. Date of admission: This infant was normal delivered. The family history was not contributory. Date of admission: Aug. 30, 1971. Rt side congenital diaphragmatic hernia. Case 5: A 13 years old girl was admitted to our hospital because of general weakness without other symptoms. This patient was normal delivered. The family history was not contributory. Date of admission: March. 15, 1973. Lt. side congenital diaphragmentic hernia.

Etiological evaluation of primary congenital hypothyroidism cases.

Science.gov (United States)

Bezen, Diğdem; Dilek, Emine; Torun, Neşe; Tütüncüler, Filiz

2017-06-01

Primary congenital hypothyroidism is frequently seen endocrine disorder and one of the preventable cause of mental retardation. Aim of study was to evaluate the frequency of permanent/transient hypothyrodism, and to detect underlying reason to identfy any marker which carries potential to discriminate permanent/transient form. Forty eight cases older than 3 years of age, diagnosed as primary congenital hypothyroidism and started thyroxin therapy in newborn-period, and followed up between January 2007-June 2013 were included in the study. Thyroid hormon levels were evaluated and thyroid ultrasonography was performed in cases who are at the end of their 3 years of age, after 6 weeks of thyroxine free period. Thyroid sintigraphy was performed if serum thyroid-stimulating hormone was high (≥ 5 mIU/mL) and perchlorate discharge test was performed if uptake was normal or increased on sintigraphy. Cases with thyroid-stimulating hormone levels ≥ 5 mIU/mL were defined as permanent primary congenital hypothyroidism group and as transient primary congenital hypothyroidism group with normal thyroid hormones during 6 months. The mean age was 3.8±0.7 years. Mean diagnosis age was 16.6±6.5 days and 14 cases (29.2%) were diagnosed by screening program of Ministry of Health. There were 23 cases (14F, 9M) in permanent primary congenital hypothyroidism group and 12 (52.2%) of them were dysgenesis (8 hypoplasia, 4 ectopia), and 11 (47.8%) dyshormonogenesis. In transient primary congenital hypothyroidism group, there were 25 cases (17M, 8F). The mean thyroid-stimulating hormone levels at diagnosis were similar in two groups. The mean thyroxin dose in permanent primary congenital hypothyroidism group was significantly higher than transient group at the time of thyroxin cessation (2.1±0.7, 1.5±0.5 mg/kg/d, respectively, p=0.004). Thyroxin dose ≥1.6 mcg/kg/d was 72% sensitive and 69.6% specific for predicting permenant primary congenital hypothyroidism. Transient primary

The genetic landscape of familial congenital hydrocephalus.

Science.gov (United States)

Shaheen, Ranad; Sebai, Mohammed Adeeb; Patel, Nisha; Ewida, Nour; Kurdi, Wesam; Altweijri, Ikhlass; Sogaty, Sameera; Almardawi, Elham; Seidahmed, Mohammed Zain; Alnemri, Abdulrahman; Madirevula, Sateesh; Ibrahim, Niema; Abdulwahab, Firdous; Hashem, Mais; Al-Sheddi, Tarfa; Alomar, Rana; Alobeid, Eman; Sallout, Bahauddin; AlBaqawi, Badi; AlAali, Wajeih; Ajaji, Nouf; Lesmana, Harry; Hopkin, Robert J; Dupuis, Lucie; Mendoza-Londono, Roberto; Al Rukban, Hadeel; Yoon, Grace; Faqeih, Eissa; Alkuraya, Fowzan S

2017-06-01

Congenital hydrocephalus is an important birth defect, the genetics of which remains incompletely understood. To date, only 4 genes are known to cause Mendelian diseases in which congenital hydrocephalus is the main or sole clinical feature, 2 X-linked (L1CAM and AP1S2) and 2 autosomal recessive (CCDC88C and MPDZ). In this study, we aimed to determine the genetic etiology of familial congenital hydrocephalus with the assumption that these cases represent Mendelian forms of the disease. Exome sequencing combined, where applicable, with positional mapping. We identified a likely causal mutation in the majority of these families (21 of 27, 78%), spanning 16 genes, none of which is X-linked. Ciliopathies and dystroglycanopathies were the most common etiologies of congenital hydrocephalus in our cohort (19% and 26%, respectively). In 1 family with 4 affected members, we identified a homozygous truncating variant in EML1, which we propose as a novel cause of congenital hydrocephalus in addition to its suggested role in cortical malformation. Similarly, we show that recessive mutations in WDR81, previously linked to cerebellar ataxia, mental retardation, and disequilibrium syndrome 2, cause severe congenital hydrocephalus. Furthermore, we confirm the previously reported candidacy of MPDZ by presenting a phenotypic spectrum of congenital hydrocephalus associated with 5 recessive alleles. Our study highlights the importance of recessive mutations in familial congenital hydrocephalus and expands the locus heterogeneity of this condition. Ann Neurol 2017;81:890-897. © 2017 American Neurological Association.

Congenital syphilis: literature review

Directory of Open Access Journals (Sweden)

Eduardo Chaida Sonda

2013-01-01

Full Text Available Syphilis is an infectious disease caused by Treponema pallidum and has high rates of vertical transmission, which can reach 100% depending on the maternal disease and stage of pregnancy. The diagnosis of gestational syphilis is simple and its screening is required during the prenatal period. However, this disease still has a high prevalence, affecting two million pregnant women worldwide. The procedures performed in newborns with congenital syphilis represent costs that are three-fold higher than the ones spent with a baby without this infection. The treatment is generally carried out with penicillin and must be extended to sexual partners. Inadequate or lack of treatment of congenital syphilis can result in miscarriage, premature birth, acute complications and other fetal sequelae. KEYWORDS: Congenital syphilis. Treponema pallidum. Vertical transmission.

What Are Congenital Heart Defects?

Science.gov (United States)

... a baby with a congenital heart defect. Family history and genetics Congenital heart disease is not usually passed along ... you or your child to a specialist in genetic testing. Cardiac MRI to diagnose a ... Factors to review family history, smoking, and medicines that increase your risk of ...

Molecular and clinical study of a cohort of 110 Algerian patients with autosomal recessive ataxia.

Science.gov (United States)

Hamza, Wahiba; Ali Pacha, Lamia; Hamadouche, Tarik; Muller, Jean; Drouot, Nathalie; Ferrat, Farida; Makri, Samira; Chaouch, Malika; Tazir, Meriem; Koenig, Michel; Benhassine, Traki

2015-06-12

Autosomal recessive cerebellar ataxias (ARCA) are a complex group of neurodegenerative disorders with great genetic and phenotypic heterogeneity, over 30 genes/loci have been associated with more than 20 different clinical forms of ARCA. Genetic heterogeneity combined with highly variable clinical expression of the cerebellar symptoms and overlapping features complicate furthermore the etiological diagnosis of ARCA. The determination of the most frequent mutations and corresponding ataxias, as well as particular features specific to a population, are mandatory to facilitate and speed up the diagnosis process, especially when an appropriate treatment is available. We explored 166 patients (115 families) refered to the neurology units of Algiers central hospitals (Algeria) with a cerebellar ataxia phenotype segregating as an autosomal recessive pattern of inheritance. Genomic DNA was extracted from peripheral blood samples and mutational screening was performed by PCR and direct sequencing or by targeted genomic capture and massive parallel sequencing of 57 genes associated with inherited cerebellar ataxia phenotypes. In this work we report the clinical and molecular results obtained on a large cohort of Algerian patients (110 patients/76 families) with genetically determined autosomal recessive ataxia, representing 9 different types of ARCA and 23 different mutations, including 6 novel ones. The five most common ARCA in this cohort were Friedreich ataxia, ataxia with isolated vitamin E deficiency, ataxia with oculomotor apraxia type 2, autosomal recessive spastic ataxia of Charlevoix-Saguenay and ataxia with oculomotor apraxia type 1. We report here a large cohort of patients with genetically determined autosomal recessive ataxia and the first study of the genetic context of ARCA in Algeria. This study showed that in Algerian patients, the two most common types of ataxia (Friedreich ataxia and ataxia with isolated vitamin E deficiency) coexist with forms that may be

Differential Protein Expression in Congenital and Acquired Cholesteatomas.

Directory of Open Access Journals (Sweden)

Seung-Ho Shin

Full Text Available Congenital cholesteatomas are epithelial lesions that present as an epithelial pearl behind an intact eardrum. Congenital and acquired cholesteatomas progress quite differently from each other and progress patterns can provide clues about the unique origin and pathogenesis of the abnormality. However, the exact pathogenic mechanisms by which cholesteatomas develop remain unknown. In this study, key proteins that directly affect cholesteatoma pathogenesis are investigated with proteomics and immunohistochemistry. Congenital cholesteatoma matrices and retroauricular skin were harvested during surgery in 4 patients diagnosed with a congenital cholesteatoma. Tissue was also harvested from the retraction pocket in an additional 2 patients during middle ear surgery. We performed 2-dimensional (2D electrophoresis to detect and analyze spots that are expressed only in congenital cholesteatoma and matrix-assisted laser desorption/ionization time of flight mass spectrometry (MALDI-TOF/MS to separate proteins by molecular weight. Protein expression was confirmed by immunohistochemical staining. The image analysis of 2D electrophoresis showed that 4 congenital cholesteatoma samples had very similar protein expression patterns and that 127 spots were exclusively expressed in congenital cholesteatomas. Of these 127 spots, 10 major spots revealed the presence of titin, forkhead transcription activator homolog (FKH 5-3, plectin 1, keratin 10, and leucine zipper protein 5 by MALDI-TOF/MS analysis. Immunohistochemical staining showed that FKH 5-3 and titin were expressed in congenital cholesteatoma matrices, but not in acquired cholesteatomas. Our study shows that protein expression patterns are completely different in congenital cholesteatomas, acquired cholesteatomas, and skin. Moreover, non-epithelial proteins, including FKH 5-3 and titin, were unexpectedly expressed in congenital cholesteatoma tissue. Our data indicates that congenital cholesteatoma origins

Congenital pseudoarthrosis associated with venous malformation

International Nuclear Information System (INIS)

Al-Hadidy, A.; Haroun, A.; Al-Ryalat, N.; Hamamy, H.; Al-Hadidi, S.

2007-01-01

Congenital pseudoarthrosis is a pathologic entity that may be isolated, or may be associated with neurofibromatosis. We report the case of a 3-year-old female with congenital pseudoarthrosis involving the right tibia and fibula. Magnetic resonance imaging (MRI) and complementary magnetic resonance angiogram (MRA) revealed a lobulated mass with vivid enhancement, which led to the diagnosis of venous malformation. This is the first report of congenital pseudoarthrosis caused by the presence of a vascular malformation. (orig.)

Congenital pseudoarthrosis associated with venous malformation

Energy Technology Data Exchange (ETDEWEB)

Al-Hadidy, A.; Haroun, A.; Al-Ryalat, N. [Jordan University Hospital, Radiology Department, P.O. Box 340621, Amman (Jordan); Hamamy, H. [Endocrinology and Genetics, National Center for Diabetes, Amman (Jordan); Al-Hadidi, S. [Jordan University Hospital, Departments of Orthopedics, Amman (Jordan)

2007-06-15

Congenital pseudoarthrosis is a pathologic entity that may be isolated, or may be associated with neurofibromatosis. We report the case of a 3-year-old female with congenital pseudoarthrosis involving the right tibia and fibula. Magnetic resonance imaging (MRI) and complementary magnetic resonance angiogram (MRA) revealed a lobulated mass with vivid enhancement, which led to the diagnosis of venous malformation. This is the first report of congenital pseudoarthrosis caused by the presence of a vascular malformation. (orig.)

Genetics of Congenital Heart Disease: Past and Present.

Science.gov (United States)

Muntean, Iolanda; Togănel, Rodica; Benedek, Theodora

2017-04-01

Congenital heart disease is the most common congenital anomaly, representing an important cause of infant morbidity and mortality. Congenital heart disease represents a group of heart anomalies that include septal defects, valve defects, and outflow tract anomalies. The exact genetic, epigenetic, or environmental basis of congenital heart disease remains poorly understood, although the exact mechanism is likely multifactorial. However, the development of new technologies including copy number variants, single-nucleotide polymorphism, next-generation sequencing are accelerating the detection of genetic causes of heart anomalies. Recent studies suggest a role of small non-coding RNAs, micro RNA, in congenital heart disease. The recently described epigenetic factors have also been found to contribute to cardiac morphogenesis. In this review, we present past and recent genetic discoveries in congenital heart disease.

Comorbid Conditions in Neonates With Congenital Heart Disease.

Science.gov (United States)

Krishnamurthy, Ganga; Ratner, Veniamin; Bacha, Emile; Aspelund, Gudrun

2016-08-01

The objectives of this review are to discuss the pathophysiology, clinical impact and treatment of major noncardiac anomalies, and prematurity in infants with congenital heart disease. MEDLINE and PubMed. Mortality risk is significantly higher in patients with congenital heart disease and associated anomalies compared with those in whom the heart defect occurs in isolation. Although most noncardiac structural anomalies do not require surgery in the neonatal period, several require surgery for survival. Management of such infants poses multiple challenges. Premature infants with congenital heart disease face challenges imposed by their immature organ systems, which are susceptible to injury or altered function by congenital heart disease and abnormal circulatory physiology independent of congenital heart disease. For optimal outcomes in premature infants or in infants with multiple congenital anomalies, a collaborative interdisciplinary approach is necessary.

When goals conflict with values: counterproductive attentional and oculomotor capture by reward-related stimuli.

Science.gov (United States)

Le Pelley, Mike E; Pearson, Daniel; Griffiths, Oren; Beesley, Tom

2015-02-01

Attention provides the gateway to cognition, by selecting certain stimuli for further analysis. Recent research demonstrates that whether a stimulus captures attention is not determined solely by its physical properties, but is malleable, being influenced by our previous experience of rewards obtained by attending to that stimulus. Here we show that this influence of reward learning on attention extends to task-irrelevant stimuli. In a visual search task, certain stimuli signaled the magnitude of available reward, but reward delivery was not contingent on responding to those stimuli. Indeed, any attentional capture by these critical distractor stimuli led to a reduction in the reward obtained. Nevertheless, distractors signaling large reward produced greater attentional and oculomotor capture than those signaling small reward. This counterproductive capture by task-irrelevant stimuli is important because it demonstrates how external reward structures can produce patterns of behavior that conflict with task demands, and similar processes may underlie problematic behavior directed toward real-world rewards.

Genetics Home Reference: severe congenital neutropenia

Science.gov (United States)

... A characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons. ... Genetic Testing Registry: Severe congenital neutropenia 2, autosomal dominant Genetic Testing Registry: Severe congenital neutropenia 3, autosomal ...

Genetic Counseling for Congenital Heart Defects

Science.gov (United States)

... Artery Disease Venous Thromboembolism Aortic Aneurysm More Genetic Counseling for Congenital Heart Defects Updated:Jan 19,2018 ... with congenital heart disease considers having children. Genetic counseling can help answer these questions and address your ...

Genetics Home Reference: congenital dyserythropoietic anemia

Science.gov (United States)

... Facebook Twitter Home Health Conditions CDA Congenital dyserythropoietic anemia Printable PDF Open All Close All Enable Javascript ... view the expand/collapse boxes. Description Congenital dyserythropoietic anemia ( CDA ) is an inherited blood disorder that affects ...

[Effect of 24-hour sleep deprivation on the oculomotor reactions of human operator].

Science.gov (United States)

Bukhtiiarov, I V; Chistov, S D

2011-01-01

The article presents the results of oculomotor reaction investigations during 24-hour sleep deprivation of 10 normal male subjects aged 25 to 30 yrs. Video nistagmograph VNG System VO-25 was used for binocular registration of eye movements. The proposed video procedures for assessment of the functional ability of human operator are a balancing test, investigation of saccadic and smooth tracking eye movements. The balancing test is designed to determine the nystagmic activity, the saccade test, latency, peak velocity and precision of saccades, and the smooth tracking test, standard errors in tracking velocity and displacement In addition to video oculography, velocity of a simple sensorimotor reaction was measured and the self-rating scale of well-being, alertness and mood (SAN) was employed. The balancing test showed balancing nystagmus; occurrence of this nystagmus grew high with desynchronosis. Saccades registered during sleep deprivation pointed to a considerable decline of velocity, less noticeable extension of latency and degradation of precision. Sleep deprivation reduced values of the mean coefficient of gain and increased the standard error in velocity and displacement of smooth eye tracking.

Joubert syndrome: large clinical variability and a unique neuroimaging aspect Síndrome de Joubert: grande variabilidade clínica e uma neuroimagem característica

Directory of Open Access Journals (Sweden)

Emília Katiane Embiruçu Leão

2010-04-01

Full Text Available Joubert syndrome (JS is an autosomal recessive inherited disorder characterized by hypotonia, cerebellar vermis hypoplasia, ocular abnormalities (e.g, pigmentary retinopathy, oculomotor apraxia and nystagmus, renal cysts and hepatic fibrosis. Respiratory abnormalities, as apnea and hyperpnea, may be present, as well as mental retardation. At least seven JS loci have been determined and five genes identified. Herein, we report five children, belonging to independent families, with JS: they shared the same typical MRI abnormality, known as molar tooth sign, but had an otherwise quite variable phenotype, regarding mostly their cognitive performance, visual abilities and extra-neurological compromise.A síndrome de Joubert (SJ é uma doença hereditária, autossômica recessiva, caracterizada por hipotonia, hipoplasia do vermis cerebelar, anormalidades oculares (p.ex., retinite pigmentar, apraxia oculomotora e nistagmo, cistos renais e fibrose hepática. Anormalidades respiratórias tais como apnéia e hiperpnéia podem estar presentes, assim como deficiência mental. Pelo menos sete loci e cinco genes diferentes associados à SJ já foram identificados. Este artigo relata cinco crianças com SJ, pertencentes a diferentes famílias. Todos os pacientes compartilham a mesma anormalidade típica da RM, conhecida como sinal do dente molar, e apresentam ampla variabilidade clínica em relação ao desempenho cognitivo, comprometimento visual e alterações extra-neurológicas.

Congenital spinal malformations

International Nuclear Information System (INIS)

Ertl-Wagner, B.B.; Reiser, M.F.

2001-01-01

Congenital spinal malformations form a complex and heterogeneous group of disorders whose pathogenesis is best explained embryologically. Radiologically, it is important to formulate a diagnosis when the disorder first becomes symptomatic. However, it is also crucial to detect complications of the disorder or of the respective therapeutic interventions in the further course of the disease such as hydromyelia or re-tethering after repair of a meningomyelocele. Moreover, once a congenital spinal malformation is diagnosed, associated malformations should be sought after. A possible syndromal classification such as in OEIS- or VACTERL-syndromes should also be considered. (orig.) [de

Congenital laryngeal anomalies,

Directory of Open Access Journals (Sweden)

Michael J. Rutter

2014-12-01

Full Text Available Introduction: It is essential for clinicians to understand issues relevant to the airway management of infants and to be cognizant of the fact that infants with congenital laryngeal anomalies are at particular risk for an unstable airway. Objectives: To familiarize clinicians with issues relevant to the airway management of infants and to present a succinct description of the diagnosis and management of an array of congenital laryngeal anomalies. Methods: Revision article, in which the main aspects concerning airway management of infants will be analyzed. Conclusions: It is critical for clinicians to understand issues relevant to the airway management of infants.

Congenital hypothyroidism: insights into pathogenesis and treatment

OpenAIRE

Cherella, Christine E.; Wassner, Ari J.

2017-01-01

Congenital hypothyroidism occurs in approximately 1 in 2000 newborns and can have devastating neurodevelopmental consequences if not detected and treated promptly. While newborn screening has virtually eradicated intellectual disability due to severe congenital hypothyroidism in the developed world, more stringent screening strategies have resulted in increased detection of mild congenital hypothyroidism. Recent studies provide conflicting evidence about the potential neurodevelopmental risks...

Congenital rubella

Science.gov (United States)

... that usually closes shortly after birth remains open ( patent ductus arteriosus ) Narrowing of the large artery that ... prior to pregnancy can prevent congenital rubella. Pregnant women who have not had the vaccine should avoid ...

Congenital heart disease with high origin of coronary artery

International Nuclear Information System (INIS)

Zhu Ming; Li Yuhua; Zhong Yumin

2002-01-01

Objective: To report 6 cases of congenital heart disease with high origin of coronary artery and to evaluate the imaging method for diagnosis of congenital high origin of coronary artery. Methods: Six patients with congenital high origin of coronary artery underwent angiocardiography, echocardiography, and 2 patients also underwent magnetic resonance examination. All 6 cases were confirmed by operation. Results: All 6 cases were congenital high origin of right coronary artery. Angiocardiography made correct diagnosis in all 6 cases; MRI made the correct diagnosis in 1 of the 2 cases; echocardiography made 1 correct diagnosis. Conclusion: Correct diagnosis of congenital high origin of coronary artery was very important for patients with congenital heart disease. Angiocardiography was a very reliable imaging method and MRI can play an important role in preoperative diagnosis of congenital high origin of coronary artery

Adult Congenital Heart Disease: Scope of the Problem.

Science.gov (United States)

Mazor Dray, Efrat; Marelli, Ariane J

2015-11-01

This article reviews the changing epidemiology of congenital heart disease summarizing its impact on the demographics of the congenital heart disease population and the progress made in order to improve outcomes in this patient population. Birth prevalence of congenital heart disease can be modified by many factors. As a result of decreasing mortality and increasing survival in all forms of congenital heart disease, the median age of patients has increased and adults now compose two-thirds of patients with congenital heart disease. Disease burden and resulting health services utilization increase significantly across the lifespan. Bridging the gap between policy and quality of care can be improved by referral to specialized adult congenital heart disease centers and planning delivery of specialized services that are commensurate with population needs, program accreditation criteria and certified training of designated workforce. Copyright © 2015 Elsevier Inc. All rights reserved.

Congenital Heart Disease: Causes, Diagnosis, Symptoms, and Treatments.

Science.gov (United States)

Sun, RongRong; Liu, Min; Lu, Lei; Zheng, Yi; Zhang, Peiying

2015-07-01

The congenital heart disease includes abnormalities in heart structure that occur before birth. Such defects occur in the fetus while it is developing in the uterus during pregnancy. About 500,000 adults have congenital heart disease in USA (WebMD, Congenital heart defects medications, www.WebMD.com/heart-disease/tc/congenital-heart-defects-medications , 2014). 1 in every 100 children has defects in their heart due to genetic or chromosomal abnormalities, such as Down syndrome. The excessive alcohol consumption during pregnancy and use of medications, maternal viral infection, such as Rubella virus, measles (German), in the first trimester of pregnancy, all these are risk factors for congenital heart disease in children, and the risk increases if parent or sibling has a congenital heart defect. These are heart valves defects, atrial and ventricular septa defects, stenosis, the heart muscle abnormalities, and a hole inside wall of the heart which causes defect in blood circulation, heart failure, and eventual death. There are no particular symptoms of congenital heart disease, but shortness of breath and limited ability to do exercise, fatigue, abnormal sound of heart as heart murmur, which is diagnosed by a physician while listening to the heart beats. The echocardiogram or transesophageal echocardiogram, electrocardiogram, chest X-ray, cardiac catheterization, and MRI methods are used to detect congenital heart disease. Several medications are given depending on the severity of this disease, and catheter method and surgery are required for serious cases to repair heart valves or heart transplantation as in endocarditis. For genetic study, first DNA is extracted from blood followed by DNA sequence analysis and any defect in nucleotide sequence of DNA is determined. For congenital heart disease, genes in chromosome 1 show some defects in nucleotide sequence. In this review the causes, diagnosis, symptoms, and treatments of congenital heart disease are described.

Molecular and Genetic Studies of Congenital Myopathies

Science.gov (United States)

2018-03-21

Central Core Disease; Centronuclear Myopathy; Congenital Fiber Type Disproportion; Multiminicore Disease; Myotubular Myopathy; Nemaline Myopathy; Rigid Spine Muscular Dystrophy; Undefined Congenital Myopathy

Profiles in congenital heart disease

International Nuclear Information System (INIS)

Freed, M.D.; Keane, J.F.

1986-01-01

Pediatric cardiology has made great strides in the diagnosis, management, and correction of complex congenital malformations in the past two decades. The foundation of these advances is a more precise understanding of the physiology and anatomy of complex lesions that has been obtained from cardiac catheterization and angiography. The techniques for catheterization of infants and children have been discussed in another paper. This chapter focuses on brief profiles of some of the more important congenital abnormalities. The incidence cited in the discussion of each abnormality pertains to a population comprises of children and adults referred to The Children's Hospital Medical Center and Peter Bent Brigham Hospital, respectively, for evaluation of congenital heart disease

Major congenital anomalies in a Danish region

DEFF Research Database (Denmark)

Garne, Ester; Hansen, Anne Vinkel; Birkelund, Anne Sofie

2014-01-01

INTRODUCTION: This study describes the prevalence of congenital anomalies and changes over time in birth outcome, mortality and chronic maternal diseases. MATERIAL AND METHODS: This study was based on population data from the EUROCAT registry covering the Funen County, Denmark, 1995...... mortality decreased significantly over time for cases with major congenital anomalies (p congenital anomaly cases, 8% had a registration of one of these chronic maternal diseases......: diabetes, epilepsy, mental disorder, thyroid disease, asthma, or inflammatory bowel disease. Medication for these conditions accounted for 46% of maternal drug use. CONCLUSION: Maternal morbidity and use of potentially teratogenic medication have increased among congenital anomaly cases. Foetal and infant...

Congenital Heart Disease: Vascular Risk Factors and Medication

NARCIS (Netherlands)

H.P.M. Smedts (Dineke)

2011-01-01

textabstractCongenital heart disease (CHD) is among the most common congenital abnormalities and involves structural anomalies of the heart and/or related major blood vessels. Congenital heart disease arises in the fi rst trimester of pregnancy, occurring often and in many forms. The reported CHD

Genetics Home Reference: Fukuyama congenital muscular dystrophy

Science.gov (United States)

... with mental retardation Muscular dystrophy, congenital, Fukuyama type Muscular dystrophy, congenital, with central nervous system involvement Polymicrogyria with muscular dystrophy Related Information How ...

The role of candidate-gene CNTNAP2 in childhood apraxia of speech and specific language impairment.

Science.gov (United States)

Centanni, T M; Sanmann, J N; Green, J R; Iuzzini-Seigel, J; Bartlett, C; Sanger, W G; Hogan, T P

2015-10-01

Childhood apraxia of speech (CAS) is a debilitating pediatric speech disorder characterized by varying symptom profiles, comorbid deficits, and limited response to intervention. Specific Language Impairment (SLI) is an inherited pediatric language disorder characterized by delayed and/or disordered oral language skills including impaired semantics, syntax, and discourse. To date, the genes associated with CAS and SLI are not fully characterized. In the current study, we evaluated behavioral and genetic profiles of seven children with CAS and eight children with SLI, while ensuring all children were free of comorbid impairments. Deletions within CNTNAP2 were found in two children with CAS but not in any of the children with SLI. These children exhibited average to high performance on language and word reading assessments in spite of poor articulation scores. These findings suggest that genetic variation within CNTNAP2 may be related to speech production deficits. © 2015 Wiley Periodicals, Inc.

Orthographically sensitive treatment for dysprosody in children with childhood apraxia of speech using ReST intervention.

Science.gov (United States)

McCabe, Patricia; Macdonald-D'Silva, Anita G; van Rees, Lauren J; Ballard, Kirrie J; Arciuli, Joanne

2014-04-01

Impaired prosody is a core diagnostic feature of Childhood Apraxia of Speech (CAS) but there is limited evidence of effective prosodic intervention. This study reports the efficacy of the ReST intervention used in conjunction with bisyllabic pseudo word stimuli containing orthographic cues that are strongly associated with either strong-weak or weak-strong patterns of lexical stress. Using a single case AB design with one follow-up and replication, four children with CAS received treatment of four one-hour sessions per week for three weeks. Sessions contained 100 randomized trials of pseudo word treatment stimuli. Baseline measures were taken of treated and untreated behaviors; retention was measured at one day and four weeks post-treatment. Children's production of lexical stress improved from pre to post-treatment. Treatment effects and maintenance varied among participants. This study provides support for the treatment of prosodic deficits in CAS.

[Sex differences in congenital heart disease].

Science.gov (United States)

Aubry, P; Demian, H

2016-12-01

Gender influences the clinical presentation and the management of some acquired cardiovascular diseases, such as coronary artery disease, resulting in different outcomes. Differences between women and men are also noticed in congenital heart disease. They are mainly related to the prevalence and severity of some congenital heart defects at birth, and in adulthood to the prognosis, incidence of Eisenmenger syndrome and risks of pregnancy. The role of gender on the risk of operative mortality of congenital heart surgery remains debated. Copyright © 2016 Elsevier Masson SAS. All rights reserved.

Congenital anomalies of the neonatal head

International Nuclear Information System (INIS)

Benson, C.B.; Teele, R.L.; Dobkin, G.R.; Fine, C.; Bundy, A.L.; Doubilet, P.M.

1987-01-01

US is a noninvasive modality that has proved highly valuable in the assessment of congenital intracranial anomalies in the neonate. The patterns of malformation must be familiar to those who obtain and interpret neonatal cranial sonograms. The authors present a variety of cases of congenital anomalies studied with US, including agenesis of the corpus callosum, Dandy-Walker malformation, occipital enecphalocele, congenital hydrocephalus, vein of Galen aneurysm, hydranencephaly, holoprosencephaly, absence of the septum pellucidum, schizencephaly, and hypoplastic cerebellum. Correlation with other radiographic modalities and pathologic follow-up, available in a majority of cases, is included

Symptoms of Autism among Children with Congenital Deafblindness

Science.gov (United States)

Dammeyer, Jesper

2014-01-01

Associations between congenital deafness or blindness and autism have been found. The main consequences of congenital sensory impairment, being barriers for communication, language and social interaction development, may lead to symptoms of autism. To date only few studies have been reported concerning individuals with congenital deafblindness.…

Cyanotic congenital heart disease and atherosclerosis

DEFF Research Database (Denmark)

Tarp, Julie Bjerre; Jensen, Annette Schophuus; Engstrøm, Thomas

2017-01-01

Improved treatment options in paediatric cardiology and congenital heart surgery have resulted in an ageing population of patients with cyanotic congenital heart disease (CCHD). The risk of acquired heart disease such as atherosclerosis increases with age.Previous studies have speculated whether...

Sequential segmental classification of feline congenital heart disease.

Science.gov (United States)

Scansen, Brian A; Schneider, Matthias; Bonagura, John D

2015-12-01

Feline congenital heart disease is less commonly encountered in veterinary medicine than acquired feline heart diseases such as cardiomyopathy. Understanding the wide spectrum of congenital cardiovascular disease demands a familiarity with a variety of lesions, occurring both in isolation and in combination, along with an appreciation of complex nomenclature and variable classification schemes. This review begins with an overview of congenital heart disease in the cat, including proposed etiologies and prevalence, examination approaches, and principles of therapy. Specific congenital defects are presented and organized by a sequential segmental classification with respect to their morphologic lesions. Highlights of diagnosis, treatment options, and prognosis are offered. It is hoped that this review will provide a framework for approaching congenital heart disease in the cat, and more broadly in other animal species based on the sequential segmental approach, which represents an adaptation of the common methodology used in children and adults with congenital heart disease. Copyright © 2015 Elsevier B.V. All rights reserved.

Congenital asymmetric crying face: a case report

Directory of Open Access Journals (Sweden)

Semra Kara

2011-12-01

Full Text Available Congenital asymmetric crying face is an anomalia caused by unilateral absence or weakness of depressor anguli oris muscle The major finding of the disease is the absence or weakness in the outer and lower movement of the commissure during crying. The other expression muscles are normal and the face is symmetric at rest. The asymmetry in congenital asymmetric crying face is most evident during infancy but decreases by age. Congenital asymmetric crying face can be associated with cervicofacial, musclebone, respiratory, genitourinary and central nervous system anomalia. It is diagnosed by physical examination. This paper presents a six days old infant with Congenital asymmetric crying face and discusses the case in terms of diagnosis and disease features.

Motor functions and adaptive behaviour in children with childhood apraxia of speech.

Science.gov (United States)

Tükel, Şermin; Björelius, Helena; Henningsson, Gunilla; McAllister, Anita; Eliasson, Ann Christin

2015-01-01

Undiagnosed motor and behavioural problems have been reported for children with childhood apraxia of speech (CAS). This study aims to understand the extent of these problems by determining the profile of and relationships between speech/non-speech oral, manual and overall body motor functions and adaptive behaviours in CAS. Eighteen children (five girls and 13 boys) with CAS, 4 years 4 months to 10 years 6 months old, participated in this study. The assessments used were the Verbal Motor Production Assessment for Children (VMPAC), Bruininks-Oseretsky Test of Motor Proficiency (BOT-2) and Adaptive Behaviour Assessment System (ABAS-II). Median result of speech/non-speech oral motor function was between -1 and -2 SD of the mean VMPAC norms. For BOT-2 and ABAS-II, the median result was between the mean and -1 SD of test norms. However, on an individual level, many children had co-occurring difficulties (below -1 SD of the mean) in overall and manual motor functions and in adaptive behaviour, despite few correlations between sub-tests. In addition to the impaired speech motor output, children displayed heterogeneous motor problems suggesting the presence of a global motor deficit. The complex relationship between motor functions and behaviour may partly explain the undiagnosed developmental difficulties in CAS.

The Use of Electropalatography in the Treatment of Acquired Apraxia of Speech.

Science.gov (United States)

Mauszycki, Shannon C; Wright, Sandra; Dingus, Nicole; Wambaugh, Julie L

2016-12-01

This investigation was designed to examine the effects of an articulatory-kinematic treatment in conjunction with visual biofeedback (VBFB) via electropalatography (EPG) on the accuracy of articulation for acquired apraxia of speech (AOS). A multiple-baseline design across participants and behaviors was used with 4 individuals with chronic AOS and aphasia. Accuracy of target speech sounds in treated and untreated phrases in probe sessions served as the dependent variable. Participants received an articulatory-kinematic treatment in combination with VBFB, which was sequentially applied to 3 stimulus sets composed of 2-word phrases with a target speech sound for each set. Positive changes in articulatory accuracy were observed for participants for the majority of treated speech sounds. Also, there was generalization to untreated phrases for most trained speech sounds. Two participants had better long-term maintenance of treated speech sounds in both trained and untrained stimuli. Findings indicate EPG may be a potential treatment tool for AOS. It appears that individuals with AOS can benefit from VBFB via EPG in improving articulatory accuracy. However, further research is needed to determine if VBFB is more advantageous than behavioral treatments that have been proven effective in improving speech production for speakers with AOS.

Childhood apraxia of speech: A survey of praxis and typical speech characteristics.

Science.gov (United States)

Malmenholt, Ann; Lohmander, Anette; McAllister, Anita

2017-07-01

The purpose of this study was to investigate current knowledge of the diagnosis childhood apraxia of speech (CAS) in Sweden and compare speech characteristics and symptoms to those of earlier survey findings in mainly English-speakers. In a web-based questionnaire 178 Swedish speech-language pathologists (SLPs) anonymously answered questions about their perception of typical speech characteristics for CAS. They graded own assessment skills and estimated clinical occurrence. The seven top speech characteristics reported as typical for children with CAS were: inconsistent speech production (85%), sequencing difficulties (71%), oro-motor deficits (63%), vowel errors (62%), voicing errors (61%), consonant cluster deletions (54%), and prosodic disturbance (53%). Motor-programming deficits described as lack of automatization of speech movements were perceived by 82%. All listed characteristics were consistent with the American Speech-Language-Hearing Association (ASHA) consensus-based features, Strand's 10-point checklist, and the diagnostic model proposed by Ozanne. The mode for clinical occurrence was 5%. Number of suspected cases of CAS in the clinical caseload was approximately one new patient/year and SLP. The results support and add to findings from studies of CAS in English-speaking children with similar speech characteristics regarded as typical. Possibly, these findings could contribute to cross-linguistic consensus on CAS characteristics.

Congenital Syphilis Masquerading as Leukemia

OpenAIRE

Lee, Tiffany; Bell, Stephanie; Scimeme, Jason; Maraqa, Nizar

2017-01-01

As of late, the incidence of congenital syphilis in the United States is increasing. Each new case represents a failure of preventing, diagnosing, and treating syphilis in pregnant women. Pediatricians should confirm that all women have received adequate screening for and management of syphilis during pregnancy. Congenital syphilis is easily treatable but may be a diagnostic challenge with high morbidity and mortality.

Angle closure glaucoma in congenital ectropion uvea

Directory of Open Access Journals (Sweden)

Grace M. Wang

2018-06-01

Full Text Available Purpose: Congenital ectropion uvea is a rare anomaly, which is associated with open, but dysplastic iridocorneal angles that cause childhood glaucoma. Herein, we present 3 cases of angle-closure glaucoma in children with congenital ectropion uvea. Observations: Three children were initially diagnosed with unilateral glaucoma secondary to congenital ectropion uvea at 7, 8 and 13 years of age. The three cases showed 360° of ectropion uvea and iris stromal atrophy in the affected eye. In one case, we have photographic documentation of progression to complete angle closure, which necessitated placement of a glaucoma drainage device 3 years after combined trabeculotomy and trabeculectomy. The 2 other cases, which presented as complete angle closure, also underwent glaucoma drainage device implantation. All three cases had early glaucoma drainage device encapsulation (within 4 months and required additional surgery (cycloablation or trabeculectomy. Conclusions and importance: Congenital ectropion uvea can be associated with angle-closure glaucoma, and placement of glaucoma drainage devices in all 3 of our cases showed early failure due to plate encapsulation. Glaucoma in congenital ectropion uvea requires attention to angle configuration and often requires multiple surgeries to obtain intraocular pressure control. Keywords: Congenital ectropion uvea, Juvenile glaucoma, Angle-closure glaucoma, Glaucoma drainage device

Classification of binary intentions for individuals with impaired oculomotor function: ‘eyes-closed’ SSVEP-based brain-computer interface (BCI)

Science.gov (United States)

Lim, Jeong-Hwan; Hwang, Han-Jeong; Han, Chang-Hee; Jung, Ki-Young; Im, Chang-Hwan

2013-04-01

Objective. Some patients suffering from severe neuromuscular diseases have difficulty controlling not only their bodies but also their eyes. Since these patients have difficulty gazing at specific visual stimuli or keeping their eyes open for a long time, they are unable to use the typical steady-state visual evoked potential (SSVEP)-based brain-computer interface (BCI) systems. In this study, we introduce a new paradigm for SSVEP-based BCI, which can be potentially suitable for disabled individuals with impaired oculomotor function. Approach. The proposed electroencephalography (EEG)-based BCI system allows users to express their binary intentions without needing to open their eyes. A pair of glasses with two light emitting diodes flickering at different frequencies was used to present visual stimuli to participants with their eyes closed, and we classified the recorded EEG patterns in the online experiments conducted with five healthy participants and one patient with severe amyotrophic lateral sclerosis (ALS). Main results. Through offline experiments performed with 11 participants, we confirmed that human SSVEP could be modulated by visual selective attention to a specific light stimulus penetrating through the eyelids. Furthermore, the recorded EEG patterns could be classified with accuracy high enough for use in a practical BCI system. After customizing the parameters of the proposed SSVEP-based BCI paradigm based on the offline analysis results, binary intentions of five healthy participants were classified in real time. The average information transfer rate of our online experiments reached 10.83 bits min-1. A preliminary online experiment conducted with an ALS patient showed a classification accuracy of 80%. Significance. The results of our offline and online experiments demonstrated the feasibility of our proposed SSVEP-based BCI paradigm. It is expected that our ‘eyes-closed’ SSVEP-based BCI system can be potentially used for communication of

Heart transplantation in adults with congenital heart disease.

Science.gov (United States)

Houyel, Lucile; To-Dumortier, Ngoc-Tram; Lepers, Yannick; Petit, Jérôme; Roussin, Régine; Ly, Mohamed; Lebret, Emmanuel; Fadel, Elie; Hörer, Jürgen; Hascoët, Sébastien

2017-05-01

With the advances in congenital cardiac surgery and postoperative care, an increasing number of children with complex congenital heart disease now reach adulthood. There are already more adults than children living with a congenital heart defect, including patients with complex congenital heart defects. Among these adults with congenital heart disease, a significant number will develop ventricular dysfunction over time. Heart failure accounts for 26-42% of deaths in adults with congenital heart defects. Heart transplantation, or heart-lung transplantation in Eisenmenger syndrome, then becomes the ultimate therapeutic possibility for these patients. This population is deemed to be at high risk of mortality after heart transplantation, although their long-term survival is similar to that of patients transplanted for other reasons. Indeed, heart transplantation in adults with congenital heart disease is often challenging, because of several potential problems: complex cardiac and vascular anatomy, multiple previous palliative and corrective surgeries, and effects on other organs (kidney, liver, lungs) of long-standing cardiac dysfunction or cyanosis, with frequent elevation of pulmonary vascular resistance. In this review, we focus on the specific problems relating to heart and heart-lung transplantation in this population, revisit the indications/contraindications, and update the long-term outcomes. Copyright © 2017. Published by Elsevier Masson SAS.

[Genetics of congenital heart diseases].

Science.gov (United States)

Bonnet, Damien

2017-06-01

Developmental genetics of congenital heart diseases has evolved from analysis of serial slices in embryos towards molecular genetics of cardiac morphogenesis with a dynamic view of cardiac development. Genetics of congenital heart diseases has also changed from formal genetic analysis of familial recurrences or population-based analysis to screening for mutations in candidates genes identified in animal models. Close cooperation between molecular embryologists, pathologists involved in heart development and pediatric cardiologists is crucial for further increase of knowledge in the field of cardiac morphogenesis and genetics of cardiac defects. The genetic model for congenital heart disease has to be revised to favor a polygenic origin rather than a monogenic one. The main mechanism is altered genic dosage that can account for heart diseases in chromosomal anomalies as well as in point mutations in syndromic and isolated congenital heart diseases. The use of big data grouping information from cardiac development, interactions between genes and proteins, epigenetic factors such as chromatin remodeling or DNA methylation is the current source for improving our knowledge in the field and to give clues for future therapies. Copyright © 2017 Elsevier Masson SAS. All rights reserved.

Congenital scoliosis: an up-to-date

Science.gov (United States)

Burnei, G; Gavriliu, S; Vlad, C; Georgescu, I; Ghita, RA; Dughilă, C; Japie, EM; Onilă, A

2015-01-01

Congenital scoliosis represents a spinal malformation due to defects of formation, segmentation or mixed ones. It is characterized by a longitudinal and rotational imbalance. 54 patients were analyzed and 39 out of them were operated by various approaches with anterior and posterior instrumentations during 2000 and 2012. The impossibility to appoint some patients encountered in the daily practice into the known classifications, allowed us to purpose two categories of congenital scoliosis related to the predominance of spinal deviances in the coronal and transversal views. No certain etiology of congenital scoliosis has been identified until today. The susceptibility of some polygenic defects is obvious due to the presence of a sum of defects associated to most of the congenital scoliosis cases and the rarity of the presence of a unique defect. The diagnosis requires a thorough clinical and imaging examination in order to establish an individualized therapeutic strategy. The treatment of congenital scoliosis is different from the adolescent idiopathic one. Therapeutic criteria are significantly different. It is essential to assess the difference in growth of the concavity related to the convexity when choosing a particular procedure. The magnitude of the curve and the progressive rate are fundamental issues to the surgeon PMID:26351546

Familial aggregation of congenital hydrocephalus in a nationwide cohort

DEFF Research Database (Denmark)

Munch, Tina Nørgaard; Rostgaard, Klaus; Rasmussen, Marie-Louise Hee

2012-01-01

The objective of the study was to investigate familial aggregation of primary congenital hydrocephalus in an unselected, nationwide population. Based on the Danish Central Person Register, we identified all children born in Denmark between 1978 and 2008 and their family members (up to third......-degree relatives). Information on primary congenital hydrocephalus was obtained from the National Patient Discharge Register. Using binomial log-linear regression, we estimated recurrence risk ratios of congenital hydrocephalus. An alternative log-linear regression model was applied to quantify the genetic effect...... and the maternal effect. Of 1 928 683 live-born children, 2194 had a diagnosis of idiopathic congenital hydrocephalus (1.1/1000). Of those, 75 (3.4%) had at least one other family member with primary congenital hydrocephalus. Significantly increased recurrence risk ratios of primary congenital hydrocephalus were...

Congenital anomalies in Primorsky region.

Science.gov (United States)

Kiku, P; Voronin, S; Golokhvast, K

2015-01-01

According to WHO hereditary diseases and congenital malformations contribute significantly to the health of population. Thus, the problems of epidemiology, clinical presentation, diagnosis and treatment of congenital abnormalities are of interest for many researchers [2]. In addition, the dynamic accounting for the incidence of congenital malformations and hereditary diseases allows the researchers to assess the ecological situation in the region [1]. The occurrence of congenital anomalies in the world varies; it depends heavily on how carefully the data is collected [4]. Multifactorial or polygenic diseases develop under the influence of environmental factors in the presence of defective genes. They can constitute up to 90% of all chronic pathology [2-5]. To determine the incidence of congenital anomalies under the influence of environmental factors. The study used the methodology of system evaluation of congenital anomalies incidence in Primorsky region, depending on bio-climatic and environmental conditions. The authors used health statistics for the period from 2000 to 2014, F.12 class for congenital abnormalities in adolescents and children that were compared in geographical and temporal aspects with environmental factors of 33 settlements in Primorsky region. The environment is represented by nature and climate (6 factor modules) and sanitation (7 factor modules) blocks of factors. When formalizing the information database of the environment a specially developed 10-point assessment scale was used. Statistical processing of the information was carried out using Pearson's chi-squared test and multiple regression method from SSPS application program package. The study found that over the 15-year period the level of congenital abnormalities in children increased by 27.5% and in adolescents - by 35.1%, and in 2014 it amounted to 1687.6 and 839.3 per 100 000 people, respectively. The predictive model shows a steady further growth of this pathology. The incidence

Prognostic factors of congenital diaphragmatic hernia accompanied by cardiovascular malformation.

Science.gov (United States)

Takahashi, Shigehiro; Sago, Haruhiko; Kanamori, Yutaka; Hayakawa, Masahiro; Okuyama, Hiroomi; Inamura, Noboru; Fujino, Yuji; Usui, Noriaki; Taguchi, Tomoaki

2013-08-01

Congenital diaphragmatic hernia is associated with cardiovascular malformation. Many prognostic factors have been identified for isolated congenital diaphragmatic hernia; however, reports of concurrent congenital diaphragmatic hernia and cardiovascular malformation in infants are limited. This study evaluated congenital diaphragmatic hernia associated with cardiovascular malformation in infants. Factors associated with prognosis for patients were also identified. This retrospective cohort study was based on a Japanese survey of congenital diaphragmatic hernia patients between 2006 and 2010. Frequency and outcome of cardiovascular malformation among infants with congenital diaphragmatic hernia were examined. Severity of congenital diaphragmatic hernia and cardiovascular malformation were compared as predictors of mortality and morbidity. Cardiovascular malformation was identified in 76 (12.3%) of 614 infants with congenital diaphragmatic hernia. Mild cardiovascular malformation was detected in 19 (33.9%) and severe cardiovascular malformation in 37 (66.1%). Their overall survival rate at discharge was 46.4%, and the survival rate without morbidity was 23.2%. Mortality and morbidity at discharge were more strongly associated with severity of cardiovascular malformation (adjusted OR 7.69, 95%CI 1.96-30.27; adjusted OR 7.93, 95%CI 1.76-35.79, respectively) than with severity of congenital diaphragmatic hernia. The prognosis for infants with both congenital diaphragmatic hernia and cardiovascular malformation remains poor. Severity of cardiovascular malformation is a more important predictive factor for mortality and morbidity than severity of congenital diaphragmatic hernia. © 2013 The Authors. Pediatrics International © 2013 Japan Pediatric Society.

What's New in Congenital Scoliosis?

Science.gov (United States)

Pahys, Joshua M; Guille, James T

2018-03-01

Congenital scoliosis is a failure of vertebral formation, segmentation, or a combination of the 2 arising from abnormal vertebral development during weeks 4 to 6 of gestation. The associated spinal deformity can be of varying severity and result in a stable or progressive deformity based on the type and location of the anomalous vertebra(e). Bracing for congenital scoliosis is rarely indicated, while recent reports have demonstrated the utility of serial derotational casting for longer curves with multiple anomalous vertebrae as an effective "time buying strategy" to delay the need for surgery. Earlier hemivertebra excision and short-segment posterior spinal fusion have been advocated to prevent future curve progression of the deformity and/or the development of large compensatory curves. It has been shown in recent long-term follow-up studies that growth rates of the vertebral body and spinal canal are not as dramatically affected by pedicle screw instrumentation at a young age as once thought. Growth friendly surgery with either spine-based or rib-based anchors has demonstrated good results with curve correction while maintaining spinal growth. Rib-based anchors are typically more commonly indicated in the setting of chest wall abnormalities and/or when spinal anatomy precludes placement of spinal instrumentation. Recently, magnetically controlled growing rods have shown promising results in several studies that include a small subset of congenital scoliosis cases. A literature search was performed to identify existing studies related to the treatment of congenital scoliosis published from January 1, 2005 to June 1, 2016. Databases included PubMed, Medline, and the Cochrane Library. The search was limited to English articles and yielded 36 papers. This project was initiated by the Pediatric Orthopaedic Society of North America Publications Committee and was reviewed and approved by the Pediatric Orthopaedic Society of North America Presidential Line. A total of

Cerebral palsy and congenital malformations

DEFF Research Database (Denmark)

Garne, Ester; Dolk, Helen; Krägeloh-Mann, Inge

2007-01-01

AIM: To determine the proportion of children with cerebral palsy (CP) who have cerebral and non-cerebral congenital malformations. METHODS: Data from 11 CP registries contributing to the European Cerebral Palsy Database (SCPE), for children born in the period 1976-1996. The malformations were...... classified as recognized syndromes, chromosomal anomalies, cerebral malformations or non-cerebral malformations. Prevalence of malformations was compared to published data on livebirths from a European database of congenital malformations (EUROCAT). RESULTS: Overall 547 out of 4584 children (11.9%) with CP...... were reported to have a congenital malformation. The majority (8.6% of all children) were diagnosed with a cerebral malformation. The most frequent types of cerebral malformations were microcephaly and hydrocephaly. Non-cerebral malformations were present in 97 CP children and in further 14 CP children...

Congenital costo-vertebral fibrous band and congenital kyphoscoliosis: a previously unreported combination.

Science.gov (United States)

Eid, Tony; Ghostine, Bachir; Kreichaty, Gaby; Daher, Paul; Ghanem, Ismat

2013-05-01

Congenital kyphoscoliosis (CKS) results from abnormal vertebral chondrification. Congenital fibrous bands occur in several locations with variable impact on vertebral development. We report a previously unreported case of a female infant with CKS presenting with an L2 hypoplastic vertebra and a costo-vertebral fibrous band extending to the skin in the form of a dimple. We also describe the therapeutic approach, consisting of surgical excision of the fibrous band and postoperative fulltime bracing, with a 7-year follow-up. We recommend a high index of suspicion in any unusual presentation of CKS and insist on case by case management in such cases.

Congenital segmental dilatation of the colon

African Journals Online (AJOL)

Congenital segmental dilatation of the colon is a rare cause of intestinal obstruction in neonates. We report a case of congenital segmental dilatation of the colon and highlight the clinical, radiological, and histopathological features of this entity. Proper surgical treatment was initiated on the basis of preoperative radiological ...

Spectrum of congenital anomalies in pregnancies with pregestational diabetes

DEFF Research Database (Denmark)

Garne, Ester; Loane, Maria; Dolk, Helen

2012-01-01

Maternal pregestational diabetes is a well-known risk factor for congenital anomalies. This study analyses the spectrum of congenital anomalies associated with maternal diabetes using data from a large European database for the population-based surveillance of congenital anomalies....

The Effects of Body Action and Attentive Anticipation on Oculomotor Fixation Stability

Directory of Open Access Journals (Sweden)

Hyosun Choi

2011-10-01

Full Text Available Tiny eye movements, such as micro-saccades, ocular tremor, and drifts, occur involuntarily during fixation. We found evidence that involvement of body action and anticipation of visual stimuli modulates them. While eye movements were monitored, subjects performed the working memory task with a touch-screen display in two different conditions. In the passive condition, each number was shown for 400-ms and spaced in time by 500-ms automatically. In the active condition, touching action was required to trigger the appearance of each number. The delay between the touch and stimulus onset was constant within a block as 200, 500, or 800-ms. Subjects were prompted to type in the number sequence after five numbers were shown. As a measure of fixation instability, deviation of eye position was analyzed by comparing eye positions with those during the reference interval (0∼50ms time period after the number onset. We observed two results: first, the deviation was smaller in pre-reference time than in post-reference time. Second, the deviation was smaller in the active condition. These results show that micro eye movements are influenced by attentive anticipation of upcoming events, which becomes more pronounced with bodily interactions. These findings suggest a cross-modal interaction among visual, motor, and oculomotor systems.

Hemodynamic and morphological characteristics of unruptured posterior communicating artery aneurysms with oculomotor nerve palsy.

Science.gov (United States)

Lv, Nan; Yu, Ying; Xu, Jinyu; Karmonik, Christof; Liu, Jianmin; Huang, Qinghai

2016-08-01

OBJECT Unruptured posterior communicating artery (PCoA) aneurysms with oculomotor nerve palsy (ONP) have a very high risk of rupture. This study investigated the hemodynamic and morphological characteristics of intracranial aneurysms with high rupture risk by analyzing PCoA aneurysms with ONP. METHODS Fourteen unruptured PCoA aneurysms with ONP, 33 ruptured PCoA aneurysms, and 21 asymptomatic unruptured PCoA aneurysms were included in this study. The clinical, morphological, and hemodynamic characteristics were compared among the different groups. RESULTS The clinical characteristics did not differ among the 3 groups (p > 0.05), whereas the morphological and hemodynamic analyses showed that size, aspect ratio, size ratio, undulation index, nonsphericity index, ellipticity index, normalized wall shear stress (WSS), and percentage of low WSS area differed significantly (p PCoA aneurysms with ONP demonstrated a distinctive morphological-hemodynamic pattern that was significantly different compared with asymptomatic unruptured PCoA aneurysms and was similar to ruptured PCoA aneurysms. The larger size, more irregular shape, and lower WSS might be related to the high rupture risk of PCoA aneurysms.

Saccadic gain adaptation is predicted by the statistics of natural fluctuations in oculomotor function

Directory of Open Access Journals (Sweden)

Mark V Albert

2012-12-01

Full Text Available Due to multiple factors such as fatigue, muscle strengthening, and neural plasticity, the responsiveness of the motor apparatus to neural commands changes over time. To enable precise movements the nervous system must adapt to compensate for these changes. Recent models of motor adaptation derive from assumptions about the way the motor apparatus changes. Characterizing these changes is difficult because motor adaptation happens at the same time, masking most of the effects of ongoing changes. Here, we analyze eye movements of monkeys with lesions to the posterior cerebellar vermis that impair adaptation. Their fluctuations better reveal the underlying changes of the motor system over time. When these measured, unadapted changes are used to derive optimal motor adaptation rules the prediction precision significantly improves. Among three models that similarly fit single-day adaptation results, the model that also matches the temporal correlations of the nonadapting saccades most accurately predicts multiple day adaptation. Saccadic gain adaptation is well matched to the natural statistics of fluctuations of the oculomotor plant.

Congenital hydrocephalus in clinical practice : A genetic diagnostic approach

NARCIS (Netherlands)

Verhagen, J. M. A.; Schrander-Stumpel, C. T. R. M.; Krapels, P. C.; de Die-Smulders, C. E. M.; van Lint, F. H. M.; Willekes, C.; Weber, J. W.; Gavilanes, A. W. D.; Macville, M. V. E.; Stegmann, A. P. A.; Engelen, J. J. M.; Bakker, J.; Vos, Y. J.; Frints, S. G. M.

2011-01-01

Congenital hydrocephalus is a common and often disabling disorder. The etiology is very heterogeneous. Little is known about the genetic causes of congenital hydrocephalus. A retrospective survey was performed including patients with primary congenital hydrocephalus referred to the Department of