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Sample records for congenital oculomotor apraxia

  1. MRI with fibre tracking in Cogan congenital oculomotor apraxia

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    Merlini, Laura [University Hospital of Geneva, Pediatric Radiology, Geneva (Switzerland); Vargas, Maria I. [University Hospital of Geneva, Neuroradiology, Geneva (Switzerland); Haller, Raoul de [University Hospital of Geneva, Pediatric Ophthalmology, Geneva (Switzerland); Rilliet, Benedict [University Hospital of Geneva, Pediatric Neurosurgery, Geneva (Switzerland); Fluss, Joel [University Hospital of Geneva, Pediatric Neurology, Geneva (Switzerland)

    2010-10-15

    Congenital ocular motor apraxia (COMA) occasionally shares with Joubert syndrome (JS) and related disorders (JSRDs) a peculiar malformation, the 'molar tooth sign' (MTS). In JSRDs, the absence of superior cerebellar peduncles (SCP) decussation is reported. To investigate whether COMA demonstrates similar abnormal axonal pathways. Eight healthy age-matched controls, three children with clinical COMA and one child with clinical JSRD underwent examination with a 1.5-T MRI scanner. Diffusion-weighted imaging (DWI), colour-coded fractional anisotropy maps and three-dimensional diffusion tensor imaging (DTI) tractography of the cerebellorubral network were analyzed. On DTI cartography, the 'red dot' originally supposed to represent the SCP decussation in the midbrain was present in controls as well in those with COMA but absent in the single case with JS. In none of the subjects including controls was 3-D FT able to depict the SCP decussation. When seeded, the red dot resulted in the ventral tegmental decussation (VTD). It was normal in controls and in patients with COMA but was absent in our single patient with JSRD. MTS was identified in alla patients with COMA and in the patient with JSRD. MTS can be present in both COMA and JSRD but the underlying anatomy depicted by fibre tracking is distinct. The main difference is the integrity of the VTD in COMA. (orig.)

  2. Cognitive Functions in Ataxia with Oculomotor Apraxia Type 2

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    Péter eKlivényi

    2012-08-01

    Full Text Available Background: Ataxia with oculomotor apraxia type 2 (AOA2 is characterized by cerebellar atrophy, peripheral neuropathy, oculomotor apraxia, and elevated serum alpha-fetoprotein levels. The disease is caused by a recessive mutation in the senataxin gene. Since it is a very rare cerebellar disorder, no detailed examination of cognitive functions in AOA2 has been published to date. The aim of the present study was to investigate the neuropsychological profile of a 54-year-old patient with AOA2. Methods: A broad range of neuropsychological examination protocol was administered including the following domains: short-term, working- and episodic- memories, executive functions, implicit sequence learning, and the temporal parameters of speech. Results: The performance on the Listening Span, Letter Fluency, Serial Reaction Time Task and pause ratio in speech was 2 or more standard deviations (SD lower compared to controls, and 1 SD lower on Backward Digit Span, Semantic Fluency, articulation rate and speech tempo. Conclusions: These findings indicate that the pathogenesis of the cerebrocerebellar circuit in AOA2 is responsible for the weaker coordination of complex cognitive functions such as working memory, executive functions, speech and sequence learning.

  3. Novel PNKP mutation in siblings with ataxia-oculomotor apraxia type 4.

    Science.gov (United States)

    Schiess, Nicoline; Zee, David S; Siddiqui, Khurram A; Szolics, Miklos; El-Hattab, Ayman W

    The phenotypic and genetic spectrum of ataxia with oculomotor apraxia (AOA) disorders is rapidly evolving and new technologies such as genetic mapping using whole exome sequencing reveal subtle distinctions among the various subtypes. We report a novel PNKP mutation in two siblings with progressive ataxia, abnormal saccades, sensorimotor neuropathy and dystonia consistent with the AOA type 4 phenotype. Laboratory evaluation revealed hypoalbuminemia, hypercholesterolemia with elevated LDL, elevated IgE levels and normal α fetoprotein levels. Eye movement examination demonstrated a marked saccade initiation defect with profound hypometric horizontal saccades. Vertical saccades were also affected but less so. Also present were conspicuous thrusting head movements when attempting to change gaze, but rather than an apraxia these were an adaptive strategy to take advantage of an intact vestibulo-ocular reflex to carry the eyes to a new target of interest. This is demonstrated in accompanying videos.

  4. Apraxia oculomotora congénita Congenital oculomoror apraxia

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    Rosa M Naranjo Fernández

    2010-01-01

    Full Text Available La apraxia oculomotora congénita, también conocida como Síndrome de Cogan, es una enfermedad hereditaria rara que afecta al ojo, caracterizada por la incapacidad para ejecutar movimientos oculares horizontales voluntarios. Descrita por Cogan en 1952, de etiología desconocida, clásicamente se le considera un desorden esporádico, con herencia autosómica dominante en algunos casos y en otros sugieren alteraciones metabólicas parciales o defectos del desarrollo neurológico. Acude al servicio de oftalmología pediátrica un paciente masculino de ocho meses de edad y al examen de motilidad ocular se detecta que cuando el niño intenta mover los ojos hacia el objeto que le llama la atención, realiza movimientos bruscos laterales de la cabeza. Se realizan estudios de neuro imágenes y electroencefalograma, no se encontraron alteraciones. Este es un diagnóstico de exclusión donde deben descartarse otras causas de defecto de fijación y movimientos cefálicos anómalos. En este momento con dos años de edad se constata una mejoría dada por disminución de las sacudidas cefálicas. Sin embargo, el retraso del desarrollo psicomotor, especialmente del lenguaje, sí puede requerir educación especial. Esta enfermedad es poco frecuente por lo que su detección temprana contribuye a un mejor pronóstico visual.The congenital ocular motor apraxia, also known as Cogan´s Syndrome, is a rare heredity disease that affects the eye in that to the extent that it can not move horizontally at will. Of unknown etiology, it was described by Cogan in 1952 and, classically considered as a sporadic disease with dominant autosomal heredity in some cases, and as an indicator of partial metabolic alterations or neurological development defects in others. An 8 month-old male patient was seen at the pediatric ophthalmology department. On the ocular motility exam, it was found that the child attempted to move his eyes towards an object that got his attention, but

  5. Apraxia

    Science.gov (United States)

    Verbal apraxia; Dyspraxia; Speech disorder - apraxia; Childhood apraxia of speech; Apraxia of speech; Acquired apraxia ... child grows and develops. The cause is unknown. Apraxia of speech is often present along with another speech disorder ...

  6. Ataxia with oculomotor apraxia type 2: a clinical and genetic study of 19 patients.

    Science.gov (United States)

    Tazir, M; Ali-Pacha, L; M'Zahem, A; Delaunoy, J P; Fritsch, M; Nouioua, S; Benhassine, T; Assami, S; Grid, D; Vallat, J M; Hamri, A; Koenig, M

    2009-03-15

    Ataxia with oculo-motor apraxia type 2 (AOA2) is a recently described autosomal recessive cerebellar ataxia (ARCA) caused by mutations in the senataxin gene (SETX). We analysed the phenotypic spectrum of 19 AOA2 patients with mutations in SETX, which seems to be the third most frequent form of ARCA in Algeria after Freidreich ataxia and Ataxia with vitamin E deficiency. In AOA2 patients, the mean age at onset for all families was in the second decade. Cerebellar ataxia was progressive, slowly leading to disability which was aggravated by axonal polyneuropathy present in almost all the patients. Mean disease duration until wheelchair was around 20 years. Oculo-motor apraxia (OMA) was present in 32% of the patients while convergent strabismus was present in 37%. Strabismus is therefore also very suggestive of AOA2 when associated with ataxia and polyneuropathy even in the absence of OMA. Cerebellar atrophy was more severe in the eldest patients; however it may also be an early sign since it was present in the youngest and paucisymptomatic patients. The initial sign was gait ataxia in all but two patients who presented with head tremor and writer cramp, respectively. Serum alpha-fetoprotein, which was elevated in all tested patients, was a good marker to suggest molecular studies of the SETX gene.

  7. Ataxia with oculomotor apraxia type 2: clinical, biological and genotype/phenotype correlation study of a cohort of 90 patients.

    LENUS (Irish Health Repository)

    Anheim, M

    2009-10-01

    Ataxia with oculomotor apraxia type 2 (AOA2) is an autosomal recessive disease due to mutations in the senataxin gene, causing progressive cerebellar ataxia with peripheral neuropathy, cerebellar atrophy, occasional oculomotor apraxia and elevated alpha-feto-protein (AFP) serum level. We compiled a series of 67 previously reported and 58 novel ataxic patients who underwent senataxin gene sequencing because of suspected AOA2. An AOA2 diagnosis was established for 90 patients, originating from 15 countries worldwide, and 25 new senataxin gene mutations were found. In patients with AOA2, median AFP serum level was 31.0 microg\\/l at diagnosis, which was higher than the median AFP level of AOA2 negative patients: 13.8 microg\\/l, P = 0.0004; itself higher than the normal level (3.4 microg\\/l, range from 0.5 to 17.2 microg\\/l) because elevated AFP was one of the possible selection criteria. Polyneuropathy was found in 97.5% of AOA2 patients, cerebellar atrophy in 96%, occasional oculomotor apraxia in 51%, pyramidal signs in 20.5%, head tremor in 14%, dystonia in 13.5%, strabismus in 12.3% and chorea in 9.5%. No patient was lacking both peripheral neuropathy and cerebellar atrophy. The age at onset and presence of occasional oculomotor apraxia were negatively correlated to the progression rate of the disease (P = 0.03 and P = 0.009, respectively), whereas strabismus was positively correlated to the progression rate (P = 0.03). An increased AFP level as well as cerebellar atrophy seem to be stable in the course of the disease and to occur mostly at or before the onset of the disease. One of the two patients with a normal AFP level at diagnosis had high AFP levels 4 years later, while the other had borderline levels. The probability of missing AOA2 diagnosis, in case of sequencing senataxin gene only in non-Friedreich ataxia non-ataxia-telangiectasia ataxic patients with AFP level > or =7 microg\\/l, is 0.23% and the probability for a non-Friedreich ataxia non

  8. Ataxia with oculomotor apraxia type 2: clinical, biological and genotype/phenotype correlation study of a cohort of 90 patients.

    Science.gov (United States)

    Anheim, M; Monga, B; Fleury, M; Charles, P; Barbot, C; Salih, M; Delaunoy, J P; Fritsch, M; Arning, L; Synofzik, M; Schöls, L; Sequeiros, J; Goizet, C; Marelli, C; Le Ber, I; Koht, J; Gazulla, J; De Bleecker, J; Mukhtar, M; Drouot, N; Ali-Pacha, L; Benhassine, T; Chbicheb, M; M'Zahem, A; Hamri, A; Chabrol, B; Pouget, J; Murphy, R; Watanabe, M; Coutinho, P; Tazir, M; Durr, A; Brice, A; Tranchant, C; Koenig, M

    2009-10-01

    Ataxia with oculomotor apraxia type 2 (AOA2) is an autosomal recessive disease due to mutations in the senataxin gene, causing progressive cerebellar ataxia with peripheral neuropathy, cerebellar atrophy, occasional oculomotor apraxia and elevated alpha-feto-protein (AFP) serum level. We compiled a series of 67 previously reported and 58 novel ataxic patients who underwent senataxin gene sequencing because of suspected AOA2. An AOA2 diagnosis was established for 90 patients, originating from 15 countries worldwide, and 25 new senataxin gene mutations were found. In patients with AOA2, median AFP serum level was 31.0 microg/l at diagnosis, which was higher than the median AFP level of AOA2 negative patients: 13.8 microg/l, P = 0.0004; itself higher than the normal level (3.4 microg/l, range from 0.5 to 17.2 microg/l) because elevated AFP was one of the possible selection criteria. Polyneuropathy was found in 97.5% of AOA2 patients, cerebellar atrophy in 96%, occasional oculomotor apraxia in 51%, pyramidal signs in 20.5%, head tremor in 14%, dystonia in 13.5%, strabismus in 12.3% and chorea in 9.5%. No patient was lacking both peripheral neuropathy and cerebellar atrophy. The age at onset and presence of occasional oculomotor apraxia were negatively correlated to the progression rate of the disease (P = 0.03 and P = 0.009, respectively), whereas strabismus was positively correlated to the progression rate (P = 0.03). An increased AFP level as well as cerebellar atrophy seem to be stable in the course of the disease and to occur mostly at or before the onset of the disease. One of the two patients with a normal AFP level at diagnosis had high AFP levels 4 years later, while the other had borderline levels. The probability of missing AOA2 diagnosis, in case of sequencing senataxin gene only in non-Friedreich ataxia non-ataxia-telangiectasia ataxic patients with AFP level > or =7 microg/l, is 0.23% and the probability for a non-Friedreich ataxia non

  9. Botulinum toxin for treating unilateral apraxia of eyelid opening in a patient with congenital myotonia

    Directory of Open Access Journals (Sweden)

    Estrella Fernández

    Full Text Available ABSTRACT A 37-year-old female presented with severe apraxia of lid opening (ALO affecting the right upper lid associated with Becker congenital myotonia (MC. The patient had a history of right upper lid ptosis for 25 years that was exacerbated over the previous month with severe incapacity to open her right eye. No other associated neurological or ophthalmic symptoms were observed. The patient was treated with botulinum toxin (BoNT-A injection into the pretarsal and lateral canthus region of the orbicularis oculi of the affected eyelid. Treatment with BoNT-A is an effective method of managing ALO in Becker MC. This is the first case of unilateral ALO in the course of Becker MC that was successfully treated with injections of botulinum toxin.

  10. Apraxia of Speech

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    ... Health Info » Voice, Speech, and Language Apraxia of Speech On this page: What is apraxia of speech? ... about apraxia of speech? What is apraxia of speech? Apraxia of speech (AOS)—also known as acquired ...

  11. Gestural apraxia.

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    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.

  12. Senataxin, the ortholog of a yeast RNA helicase, is mutant in ataxia-ocular apraxia 2.

    Science.gov (United States)

    Moreira, Maria-Céu; Klur, Sandra; Watanabe, Mitsunori; Németh, Andrea H; Le Ber, Isabelle; Moniz, José-Carlos; Tranchant, Christine; Aubourg, Patrick; Tazir, Meriem; Schöls, Lüdger; Pandolfo, Massimo; Schulz, Jörg B; Pouget, Jean; Calvas, Patrick; Shizuka-Ikeda, Masami; Shoji, Mikio; Tanaka, Makoto; Izatt, Louise; Shaw, Christopher E; M'Zahem, Abderrahim; Dunne, Eimear; Bomont, Pascale; Benhassine, Traki; Bouslam, Naïma; Stevanin, Giovanni; Brice, Alexis; Guimarães, João; Mendonça, Pedro; Barbot, Clara; Coutinho, Paula; Sequeiros, Jorge; Dürr, Alexandra; Warter, Jean-Marie; Koenig, Michel

    2004-03-01

    Ataxia-ocular apraxia 2 (AOA2) was recently identified as a new autosomal recessive ataxia. We have now identified causative mutations in 15 families, which allows us to clinically define this entity by onset between 10 and 22 years, cerebellar atrophy, axonal sensorimotor neuropathy, oculomotor apraxia and elevated alpha-fetoprotein (AFP). Ten of the fifteen mutations cause premature termination of a large DEAxQ-box helicase, the human ortholog of yeast Sen1p, involved in RNA maturation and termination.

  13. Aphasia vs. Apraxia

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    ... 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 ...

  14. Apraxia-Kids

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    ... 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 ...

  15. Apraxia of gait- or apraxia of postural transitions?

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    Dale, Marian L; Curtze, Carolin; Nutt, John G

    2018-02-19

    "Apraxia of gait" is not a useful concept and freezing of gait should also not be considered an apraxia. The concept of apraxia may, however, be applied to distortions of postural transitions that can accompany fronto-parietal lesions. Copyright © 2018 Elsevier Ltd. All rights reserved.

  16. Apraxia in left-handers.

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    Goldenberg, Georg

    2013-08-01

    In typical right-handed patients both apraxia and aphasia are caused by damage to the left hemisphere, which also controls the dominant right hand. In left-handed subjects the lateralities of language and of control of the dominant hand can dissociate. This permits disentangling the association of apraxia with aphasia from that with handedness. Pantomime of tool use, actual tool use and imitation of meaningless hand and finger postures were examined in 50 consecutive left-handed subjects with unilateral hemisphere lesions. There were three aphasic patients with pervasive apraxia caused by left-sided lesions. As the dominant hand is controlled by the right hemisphere, they constitute dissociations of apraxia from handedness. Conversely there were also three patients with pervasive apraxia caused by right brain lesions without aphasia. They constitute dissociations of apraxia from aphasia. Across the whole group of patients dissociations from handedness and from aphasia were observed for all manifestations of apraxia, but their frequency depended on the type of apraxia. Defective pantomime and defective tool use occurred rarely without aphasia, whereas defective imitation of hand, but not finger, postures was more frequent after right than left brain damage. The higher incidence of defective imitation of hand postures in right brain damage was mainly due to patients who had also hemi-neglect. This interaction alerts to the possibility that the association of right hemisphere damage with apraxia has to do with spatial aptitudes of the right hemisphere rather than with its control of the dominant left hand. Comparison with data from right-handed patients showed no differences between the severity of apraxia for imitation of hand or finger postures, but impairment on pantomime of tool use was milder in apraxic left-handers than in apraxic right-handers. This alleviation of the severity of apraxia corresponded with a similar alleviation of the severity of aphasia as

  17. 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

  18. The Management of Developmental Apraxia.

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    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)

  19. Assessment of apraxia: inter-rater reliability of a new apraxia test, association between apraxia and other cognitive deficits and prevalence of apraxia in a rehabilitation setting.

    Science.gov (United States)

    Zwinkels, Angeliek; Geusgens, Chantal; van de Sande, Peter; Van Heugten, Caroline

    2004-11-01

    To investigate the inter-rater reliability of a new apraxia test. Furthermore to examine the association of apraxia with other neuropsychological impairments and the prevalence of apraxia in a rehabilitation setting on the basis of the new test. Cross-sectional cohort study, involving 100 patients with a first stroke admitted to a rehabilitation centre in the Netherlands. General patient characteristics and stroke-related aspects. Cognitive screening involving apraxia, visuospatial scanning, abstract thinking and reasoning, memory, attention, planning and aphasia. The indices for inter-rater agreement range from excellent to poor. Significant correlations are found between apraxia and visuospatial scanning, memory, attention, planning and aphasia. The patients with apraxia perform significantly worse than the patients without apraxia on memory, the time needed to complete the tests for scanning and attention, and aphasia. The prevalence of apraxia is 25.3% in the total group, 51.3% in the left hemisphere stroke patients and 6.0% in the right hemisphere stroke patients. Patients with and without apraxia do not differ significantly concerning age, gender and type of stroke. The apraxia test has been shown to be a reliable instrument. Apraxia is often associated with aphasia, memory problems and mental slowness. This study shows that on the basis of the apraxia test, the prevalence of apraxia among patients in the rehabilitation centre is high, especially among patients with left hemisphere lesions.

  20. 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.)

  1. Crossed Apraxia of Speech: A Case Report

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    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…

  2. Diagnosis and treatment of upper limb apraxia.

    Science.gov (United States)

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

    2012-07-01

    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 and ill-treated entity. Based on a systematic literature search, this review summarizes the current tools of diagnosis and treatment strategies for upper limb apraxia. It furthermore provides clinicians with graded recommendations. In particular, a short screening test for apraxia, and a more comprehensive diagnostic apraxia test for clinical use are recommended. Although currently only a few randomized controlled studies investigate the efficacy of different apraxia treatments, the gesture training suggested by Smania and colleagues can be recommended for the therapy of apraxia, the effects of which were shown to extend to activities of daily living and to persist for at least 2 months after completion of the training. This review aims at directing the reader's attention to the ecological relevance of apraxia. Moreover, it provides clinicians with appropriate tools for the reliable diagnosis and effective treatment of apraxia. Nevertheless, this review also highlights the need for further research into how to improve diagnosis of apraxia based on neuropsychological models and to develop new therapeutic strategies.

  3. 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.

  4. The human premotor oculomotor brainstem system - can it help to understand oculomotor symptoms in Huntington's disease?

    NARCIS (Netherlands)

    Rueb, U.; Heinsen, H.; Brunt, E. R.; Landwehrmeyer, B.; Den Dunnen, W. F. A.; Gierga, K.; Deller, T.

    Recent progress in oculomotor research has enabled new insights into the functional neuroanatomy of the human premotor oculomotor brainstem network. In the present review, we provide an overview of its functional neuroanatomy and summarize the broad range of oculomotor dysfunctions that may occur in

  5. 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...

  6. Apraxia: neural mechanisms and functional recovery.

    Science.gov (United States)

    Foundas, Anne L

    2013-01-01

    Apraxia is a cognitive-motor disorder that impacts the performance of learned, skilled movements. Limb apraxia, which is the topic of this chapter, is specific to disordered movements of the upper limb that cannot be explained by weakness, sensory loss, abnormalities of posture/tone/movement, or a lack of understanding/cooperation. Patients with limb apraxia have deficits in the control or programming of the spatial-temporal organization and sequencing of goal-directed movements. People with limb apraxia can have difficulty manipulating and using tools including cutting with scissors or making a cup of coffee. Two praxis systems have been identified including a production system (action plan and production) and a conceptual system (action knowledge). Dysfunction of the former produces ideomotor apraxia (e.g., difficulty using scissors), and dysfunction of the latter induces ideational apraxia (e.g., difficulty making a cup of coffee). Neural mechanisms, including how to evaluate apraxia, will be presented in the context of these two praxis systems. Information about these praxis systems, including the nature of the disordered limb movement, is important for rehabilitation clinicians to understand for several reasons. First, limb apraxia is a common disorder. It is common in patients who have had a stroke, in neurodegenerative disorders like Alzheimer disease, in traumatic brain injury, and in developmental disorders. Second, limb apraxia has real world consequences. Patients with limb apraxia have difficulty managing activities of daily living. This factor impacts healthcare costs and contributes to increased caregiver burden. Unfortunately, very few treatments have been systematically studied in large numbers of patients with limb apraxia. This overview of limb apraxia should help rehabilitation clinicians to educate patients and caregivers about this debilitating problem, and should facilitate the development of better treatments that could benefit many people in

  7. Nonverbal oral apraxia in primary progressive aphasia and apraxia of speech.

    Science.gov (United States)

    Botha, Hugo; Duffy, Joseph R; Strand, Edythe A; Machulda, Mary M; Whitwell, Jennifer L; Josephs, Keith A

    2014-05-13

    The goal of this study was to explore the prevalence of nonverbal oral apraxia (NVOA), its association with other forms of apraxia, and associated imaging findings in patients with primary progressive aphasia (PPA) and progressive apraxia of speech (PAOS). Patients with a degenerative speech or language disorder were prospectively recruited and diagnosed with a subtype of PPA or with PAOS. All patients had comprehensive speech and language examinations. Voxel-based morphometry was performed to determine whether atrophy of a specific region correlated with the presence of NVOA. Eighty-nine patients were identified, of which 34 had PAOS, 9 had agrammatic PPA, 41 had logopenic aphasia, and 5 had semantic dementia. NVOA was very common among patients with PAOS but was found in patients with PPA as well. Several patients exhibited only one of NVOA or apraxia of speech. Among patients with apraxia of speech, the severity of the apraxia of speech was predictive of NVOA, whereas ideomotor apraxia severity was predictive of the presence of NVOA in those without apraxia of speech. Bilateral atrophy of the prefrontal cortex anterior to the premotor area and supplementary motor area was associated with NVOA. Apraxia of speech, NVOA, and ideomotor apraxia are at least partially separable disorders. The association of NVOA and apraxia of speech likely results from the proximity of the area reported here and the premotor area, which has been implicated in apraxia of speech. The association of ideomotor apraxia and NVOA among patients without apraxia of speech could represent disruption of modules shared by nonverbal oral movements and limb movements.

  8. 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.

  9. 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.

  10. 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.

  11. Inpatient rehabilitation outcomes of patients with apraxia after stroke.

    Science.gov (United States)

    Wu, Andy J; Burgard, Emily; Radel, Jeff

    2014-01-01

    Stroke-induced paresis commands much attention during rehabilitation; other stroke-related consequences receive less consideration. Apraxia is a stroke disorder that may have important implications for rehabilitation and recovery. To investigate association of apraxia with stroke rehabilitation outcomes during inpatient rehabilitation. This cohort study compared patients with and without apraxia after a first left hemispheric stroke. All study patients received standard of care. Clinical measures were the Functional Independence Measure (FIM) and the upper extremity section of the Fugl-Meyer Assessment (FMA) administered upon admission and at discharge. Length of stay was also documented. Florida Apraxia Battery subtests were used to classify patients with apraxia. Fifteen patients were included in this study, 10 of whom had apraxia. Data analysis revealed that patients with apraxia exhibited improvement from admission to discharge in clinical measures; however, admission FIM score was significantly lower compared to patients without apraxia. There was no statistically significant difference between groups on FMA score, length of stay, or amount of change on clinical measures. This study of acute patients found those with apraxia to be significantly less independent upon admission to inpatient rehabilitation compared to patients without apraxia. Although both groups improved a similar amount during rehabilitation, patients with apraxia discharged at a level of independence comparable to patients without apraxia upon admission. Such disparity in independence is of concern, and apraxia as a factor in stroke rehabilitation and recovery deserves further attention.

  12. 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.

  13. Apraxia and motor dysfunction in corticobasal syndrome.

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    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

  14. 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.

  15. 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

  16. 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.

  17. 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

  18. 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

  19. 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.

  20. 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…

  1. 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…

  2. 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…

  3. 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…

  4. 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

  5. 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

  6. 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.

  7. 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.

  8. 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.

  9. 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.

  10. 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...

  11. 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

  12. 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…

  13. 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...

  14. 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.

  15. 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.

  16. 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.

  17. 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.

  18. 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

  19. 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.

  20. 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.

  1. 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.

  2. 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.

  3. 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

  4. 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

  5. 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.

  6. 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.

  7. 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.

  8. 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.

  9. 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).

  10. 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.

  11. 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.

  12. 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.

  13. 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...

  14. 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

  15. 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

  16. 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…

  17. 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…

  18. 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…

  19. 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…

  20. 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:…

  1. 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…

  2. 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…

  3. 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.

  4. 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…

  5. 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…

  6. 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…

  7. 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…

  8. 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…

  9. 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…

  10. 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.

  11. 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…

  12. 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 ...

  13. 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.

  14. 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.

  15. 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...

  16. 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...

  17. 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...

  18. 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.

  19. 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...

  20. 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.

  1. 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.

  2. 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

  3. 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

  4. 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.

  5. 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...

  6. 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

  7. 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...

  8. 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.

  9. 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.

  10. 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.

  11. 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.

  12. 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.

  13. 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.

  14. 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…

  15. 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

  16. 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

  17. 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

  18. 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

  19. 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

  20. 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....

  1. 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…

  2. 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.

  3. 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

  4. 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.

  5. 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 ...

  6. 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 ...

  7. 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

  8. 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.

  9. 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.

  10. 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.

  11. Case of Cytomegalovirus Infection Causing Isolated Oculomotor Nerve Palsy

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    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.

  12. 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.

  13. 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.

  14. 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.

  15. 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.

  16. 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.

  17. 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

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

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    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

  19. 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

  20. Congenital rubella

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    ... 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 ...

  1. 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

  2. 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.

  3. 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

  4. 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...

  5. 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.

  6. Clinical and Molecular Investigations Into Ciliopathies

    Science.gov (United States)

    2018-03-27

    Autosomal Recessive Polycystic Kidney Disease; Congenital Hepatic Fibrosis; Caroli's Disease; Polycystic Kidney Disease; Joubert Syndrome; Cerebro-Oculo-Renal Syndromes; COACH Syndrome; Senior-Loken Syndrome; Dekaban-Arima Syndrome; Cogan Oculomotor Apraxia; Nephronophthisis; Bardet-Biedl Syndrome; Alstrom Syndrome; Oral-Facial-Digital Syndrome

  7. 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.

  8. 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.

  9. 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

  10. 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.

  11. 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)

  12. 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.

  13. 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.

  14. 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 ...

  15. 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.

  16. 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.

  17. 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.

  18. 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.

  19. 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.

  20. 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.

  1. 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.

  2. 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.

  3. 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.

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

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    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.

  5. 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

  6. 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

  7. 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.

  8. 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.

  9. 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.

  10. 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.

  11. Congenital Hydrocephalus.

    Science.gov (United States)

    Estey, Chelsie M

    2016-03-01

    There are several types of hydrocephalus, which are characterized based on the location of the cerebrospinal fluid (CSF) accumulation. Physical features of animals with congenital hydrocephalus may include a dome-shaped skull, persistent fontanelle, and bilateral ventrolateral strabismus. Medical therapy involves decreasing the production of CSF. The most common surgical treatment is placement of a ventriculoperitoneal shunt. Postoperative complications may include infection, blockage, drainage abnormalities, and mechanical failure. Copyright © 2016 Elsevier Inc. All rights reserved.

  12. Congenital diplopodia

    International Nuclear Information System (INIS)

    Brower, Jason S.; Wootton-Gorges, Sandra L.; Costouros, John G.; Boakes, Jennette; Greenspan, Adam

    2003-01-01

    Diplopodia, or duplicated foot, is a rare congenital anomaly. It differs from polydactyly in that supernumerary metatarsal and tarsal bones are present as well as extra digits. Only a few cases of this anomaly have been reported in the literature to date. We present a newborn male without intrauterine teratogen exposure who was born with a duplicate foot of the left lower extremity and imperforate anus. (orig.)

  13. 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.

  14. 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.

  15. 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.

  16. 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…

  17. 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.

  18. 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.

  19. 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

  20. 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.

  1. 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.

  2. 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.

  3. 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.

  4. 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.

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

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    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.

  6. Congenital syphilis

    International Nuclear Information System (INIS)

    Lee, Sang Wook; Kim, Kyung Soo; Hur, Don

    1983-01-01

    In recent years, marked increase in incidence of congenital syphilis has occurred throughout the world due to changes in social norms and development of penicillin-resistant strains. Early diagnosis plays an important role in congenital syphilis as the clinical manifestations may simulate many other conditions in the paediatric age group. The authors analyzed 52 cases of congenital syphilis admitted to the department of paediatrics, Chosun University Hospital, clinically and radiologically. Among them, 18 cases were born in this hospital and 34 cases were admitted from OPD, during the period of 8 years from January, 1975 to December, 1982. The results obtained were as follows; 1. In 28 of 34 cases (82%), the first clinical manifestations were below the age of 3 months. 2. Among the 52 cases, a male predominance was observed with a male to female ratio of 2 : 1. 3. The serologic test (VDRL) of the 52 studied cases showed reactive response in 49 cases (94%), and that of syphilitic mothers except 6 cases, reactive in all studied cases. 4. The major manifestations of the 52 cases were bone tenderness (12%) and swelling of the joints (7%) in skeletal system, hepatosplenomegaly (79%) and skin lesions (73%) in extraskeletal one. 5. The radiological skeletal changes were detected in 45 of 52 cases (87%), and the commonest findings were detected in 45 of 52 cases (87%), and the commonest findings were metaphysitis (83%) and periostitis (81%). The most characteristic type of metaphysitis were transverse trophic line (74%) and zone of rarefaction (65%). 6. The commonest bones to be affected were growing metaphyses of the long bones, particulary about the wrist and the knee. The order of frequency were radius (80%), uina (80%), tibia (77%), femur (69%) and humerus (40%)

  7. 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.

  8. 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.

  9. 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.

  10. 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.

  11. 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...

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

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    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.

  13. 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

  14. 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

  15. 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.

  16. 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.

  17. 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

  18. Congenital amusia.

    Science.gov (United States)

    Williamson, Victoria J; Stewart, Lauren

    2013-01-01

    For most people, music, like language, is acquired effortlessly in early life. But a few percent of the population have lifelong difficulties in the perception and production of music. In this chapter we discuss psycho-acoustic and behavioral studies that have attempted to delineate the nature of the auditory perceptual deficits in this group and consider whether these difficulties extend outside the musical domain. Finally, we review structural imaging studies in this group which point to subtle anomalies in temporal and frontal areas. We suggest that amusia can be considered a disorder of neural development, which has relatively specific consequences at the behavioral level. Studies of congenital amusia provide a unique window on the neurocognitive architecture of music processing. Copyright © 2013 Elsevier B.V. All rights reserved.

  19. 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.

  20. 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.

  1. 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…

  2. 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…

  3. 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…

  4. 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…

  5. 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…

  6. 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…

  7. 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…

  8. 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

  9. 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…

  10. 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…

  11. 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

  12. 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

  13. 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…

  14. 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.…

  15. 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…

  16. 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…

  17. 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…

  18. 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

  19. 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…

  20. 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…

  1. 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…

  2. 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.

  3. 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

  4. 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.

  5. 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

  6. 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…

  7. 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…

  8. 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…

  9. 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…

  10. 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…

  11. 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.)…

  12. 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…

  13. 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…

  14. 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

  15. 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…

  16. 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

  17. 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

  18. 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

  19. 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

  20. 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

  1. 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.

  2. 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.

  3. 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.

  4. 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…

  5. 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…

  6. 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

  7. 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…

  8. 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…

  9. 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

  10. 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

  11. 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…

  12. Neuroanatomical correlates of childhood apraxia of speech: A connectomic approach.

    Science.gov (United States)

    Fiori, Simona; Guzzetta, Andrea; Mitra, Jhimli; Pannek, Kerstin; Pasquariello, Rosa; Cipriani, Paola; Tosetti, Michela; Cioni, Giovanni; Rose, Stephen E; Chilosi, Anna

    2016-01-01

    Childhood apraxia of speech (CAS) is a paediatric speech sound disorder in which precision and consistency of speech movements are impaired. Most children with idiopathic CAS have normal structural brain MRI. We hypothesize that children with CAS have altered structural connectivity in speech/language networks compared to controls and that these altered connections are related to functional speech/language measures. Whole brain probabilistic tractography, using constrained spherical deconvolution, was performed for connectome generation in 17 children with CAS and 10 age-matched controls. Fractional anisotropy (FA) was used as a measure of connectivity and the connections with altered FA between CAS and controls were identified. Further, the relationship between altered FA and speech/language scores was determined. Three intra-hemispheric/interhemispheric subnetworks showed reduction of FA in CAS compared to controls, including left inferior (opercular part) and superior (dorsolateral, medial and orbital part) frontal gyrus, left superior and middle temporal gyrus and left post-central gyrus (subnetwork 1); right supplementary motor area, left middle and inferior (orbital part) frontal gyrus, left precuneus and cuneus, right superior occipital gyrus and right cerebellum (subnetwork 2); right angular gyrus, right superior temporal gyrus and right inferior occipital gyrus (subnetwork 3). Reduced FA of some connections correlated with diadochokinesis, oromotor skills, expressive grammar and poor lexical production in CAS. These findings provide evidence of structural connectivity anomalies in children with CAS across specific brain regions involved in speech/language function. We propose altered connectivity as a possible epiphenomenon of complex pathogenic mechanisms in CAS which need further investigation.

  13. 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.

  14. 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.

  15. 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

  16. [Congenital hypothyroidism].

    Science.gov (United States)

    Castilla Peón, María Fernanda

    Congenital hypothyroidism (CH) is a cause of preventable mental retardation; therefore, timely diagnosis and treatment by the primary care physician is very important. CH screening must be performed between the second and fifth days of life with capillary blood done with a heel prick and must be confirmed by measurement of thyroid hormones in venous blood. The most common cause of CH is thyroid dysgenesis, which may be identified by a thyroid scan carried out before initiating treatment. Treatment should be with levothyroxine (10-15μg/kg/day) and should not be delayed or suspended during the first 3 years of life due to the deleterious effect on neurodevelopment in case of low thyroid hormones during this time. Preterm or sick infants or those with Down syndrome require special consideration. This article provides diagnostic and therapeutic algorithms for CH. Copyright © 2015 Hospital Infantil de México Federico Gómez. Publicado por Masson Doyma México S.A. All rights reserved.

  17. 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 ...

  18. 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 ...

  19. Congenital Heart Information Network

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    ... 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 © ...

  20. Congenital heart disease

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    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 ...

  1. Tool use and mechanical problem solving in apraxia.

    Science.gov (United States)

    Goldenberg, G; Hagmann, S

    1998-07-01

    Moorlaas (1928) proposed that apraxic patients can identify objects and can remember the purpose they have been made for but do not know the way in which they must be used to achieve that purpose. Knowledge about the use of objects and tools can have two sources: It can be based on retrieval of instructions of use from semantic memory or on a direct inference of function from structure. The ability to infer function from structure enables subjects to use unfamiliar tools and to detect alternative uses of familiar tools. It is the basis of mechanical problem solving. The purpose of the present study was to analyze retrieval of instruction of use, mechanical problem solving, and actual tool use in patients with apraxia due to circumscribed lesions of the left hemisphere. For assessing mechanical problem solving we developed a test of selection and application of novel tools. Access to instruction of use was tested by pantomime of tool use. Actual tool use was examined for the same familiar tools. Forty two patients with left brain damage (LBD) and aphasia, 22 patients with right brain damage (RBD) and 22 controls were examined. Only LBD patients differed from controls on all tests. RBD patients had difficulties with the use but not with the selection of novel tools. In LBD patients there was a significant correlation between pantomime of tool use and novel tool selection but there were single cases who scored in the defective range on one of these tests and normally on the other. Analysis of LBD patients' lesions suggested that frontal lobe damage does not disturb novel tool selection. Only LBD patients who failed on pantomime of object use and on novel tool selection committed errors in actual use of familiar tools. The finding that mechanical problem solving is invariably defective in apraxic patients who commit errors with familiar tools is in good accord with clinical observations, as the gravity of their errors goes beyond what one would expect as a mere sequel

  2. 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)

  3. 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.

  4. 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.

  5. 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.

  6. 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.

  7. 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

  8. 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

  9. [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.

  10. 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

  11. 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

  12. 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

  13. 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.

  14. 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

  15. 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.

  16. 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.

  17. 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

  18. 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.

  19. 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 ...

  20. 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.

  1. 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...

  2. 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...

  3. 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...

  4. 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.

  5. 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...

  6. 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

  7. 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.

  8. 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.

  9. 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.

  10. 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

  11. 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.

  12. 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.

  13. 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...

  14. 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.

  15. 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

  16. 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 ...

  17. 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.

  18. 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.

  19. 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

  20. 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.

  1. 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

  2. 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.

  3. 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.

  4. 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

  5. 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).

  6. 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.

  7. 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.

  8. 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

  9. 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.

  10. 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

  11. 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.

  12. 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

  13. 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....

  14. 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

  15. 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,…

  16. 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…

  17. 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…

  18. 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…

  19. 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.…

  20. 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…

  1. 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…

  2. 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…

  3. 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…

  4. 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…

  5. 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.…

  6. 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…

  7. 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…

  8. 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

  9. 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

  10. 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…

  11. 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…

  12. 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.

  13. 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.

  14. Congenital Constriction Band Syndrome

    OpenAIRE

    Rajesh Gupta, Fareed Malik, Rishabh Gupta, M.A.Basit, Dara Singh

    2008-01-01

    Congenital constriction bands are anomalous bands that encircle a digit or an extremity. Congenitalconstriction band syndrome is rare condition and is mostly associated with other musculoskeletaldisorders.We report such a rare experience.

  15. Congenital anterior urethral diverticulum

    International Nuclear Information System (INIS)

    Jung, Hyun Sub; Chung, Young Sun; Suh, Chee Jang; Won, Jong Jin

    1985-01-01

    Two cases of congenital anterior urethral diverticular which have occurred in a 4 year old and one month old boy are presented. Etiology, diagnostic procedures, and its clinical results are briefly reviewed

  16. 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.

  17. 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.

  18. 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.

  19. 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)

  20. 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.

  1. 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.

  2. 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.

  3. 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.

  4. 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.

  5. 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.

  6. 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.

  7. 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.

  8. 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

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

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    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

  10. 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.)

  11. Congenital malaria in China.

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    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

  12. Congenital cytomegalovirus infection

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    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.

  13. 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.

  14. 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

  15. 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....

  16. 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.

  17. 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.

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

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    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.

  19. Congenital maxillary double lip

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    Dinesh Singh Chauhan

    2012-01-01

    Full Text Available Double lip, also referred to as "macrocheilia," is a rare anomaly which affects the upper lip more commonly than the lower lip. It consists of a fold of excess or redundant hypertrophic tissue on the mucosal side of the lip. The congenital double lip is believed to be present at birth and becomes more prominent after eruption of teeth. It affects esthetics and also interferes with speech and mastication. Simple surgical excision produces good functional and cosmetic results. We report a case of a non-syndromic congenital maxillary double lip in a 21-year-old male patient.

  20. 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.)

  1. 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

  2. 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.)

  3. 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.

  4. 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 ...

  5. 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.

  6. 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.

  7. 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.

  8. 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.

  9. 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.

  10. 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.

  11. 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

  12. 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

  13. 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.

  14. 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

  15. 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.

  16. 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.

  17. 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.

  18. Severe congenital neutropenia

    DEFF Research Database (Denmark)

    Borregaard, Niels

    2014-01-01

    In this issue of Blood, Tidwell et al1 demonstrate that mutations in the start codon (protein synthesis is initiated at the codon ATG) of neutrophil elastase (ELANE) result in the production of N-terminally truncated elastase, which mislocates to the nucleus and results in severe congenital neutr...... neutropenia (SCN)....

  19. Giant Congenital Melanocytic Nevus

    DEFF Research Database (Denmark)

    Rasmussen, Bo Sonnich; Henriksen, Trine Foged; Kølle, Stig-Frederik Trojahn

    2015-01-01

    Giant congenital melanocytic nevi (GCMN) occur in 1:20,000 livebirths and are associated with increased risk of malignant transformation. The treatment of GCMN from 1981 to 2010 in a tertiary referral center was reviewed evaluating the modalities used, cosmetic results, associated complications...

  20. Congenital neck masses.

    Science.gov (United States)

    Rosa, Peter A; Hirsch, David L; Dierks, Eric J

    2008-08-01

    Congenital neck lesions reflect abnormal embryogenesis in head and neck development. A thorough knowledge of embryology and anatomy is critical in the diagnosis and treatment of these lesions. The appropriate diagnosis of these lesions is necessary to provide appropriate treatment and long-term follow up, because some of these lesions may undergo malignant transformation or be harbingers of malignant disease.

  1. Congenital cystic eyeball

    Directory of Open Access Journals (Sweden)

    Gupta V

    1990-01-01

    Full Text Available A rare case of histopathologically proved case of congenital cystic eye in a one day old girl is described. It was an unusually large cystic mass bulging forwards stretching the upperlid. There was no rudimentary eyeball in the orbit. The cystic eye′s predilection for the left eye has been pointed out for the first time in this article.

  2. Congenital extracranial meningioma

    International Nuclear Information System (INIS)

    Wong, H.F.; Ng, S.H.; Wai, Y.Y.; Wan, Y.L.; Kong, M.S.

    1995-01-01

    The authors report a case of congenital meningioma in a newborn. This tumour is extremely rare and only six cases have been reported in the literature. Those reported cases were mainly intracranial. This is the first case of a neonatal extracranial meningioma that was evaluated preoperatively by computed tomography and magnetic resonance imaging. (orig.)

  3. Congenital cystic adenomatoid malformation

    International Nuclear Information System (INIS)

    Chaudhry, A.K.; Azam, M.; Maqsood, R.; Naz, B.; Salam, A.

    2003-01-01

    This case report presents the clinical picture, diagnostic methodology and surgical treatment of a female child who presented with chronic cough and dyspnoea due to congenital malformation of lung. A discussion of diagnosis and management is presented at the end. (author)

  4. 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.”

  5. Identification of congenital deafblindness

    DEFF Research Database (Denmark)

    Dammeyer, Jesper Herup

    2012-01-01

    . The study evaluated the assessment procedure of 190 children and adults found to be congenitally deafblind. Among the 190 individuals 76 percent were determined using functional assessment in addition to medical examination. A case example involving a 12-year-old child is also presented to illustrate...

  6. 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.

  7. 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.)

  8. 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.

  9. Attachment style impacts behavior and early oculomotor response to positive, but not negative, pictures.

    Science.gov (United States)

    Silva, Catarina; Chaminade, Thierry; David, Da Fonseca; Santos, Andreia; Esteves, Francisco; Soares, Isabel; Deruelle, Christine

    2015-06-01

    The present study investigated whether oculomotor behavior is influenced by attachment styles. The Relationship Scales Questionnaire was used to assess attachment styles of forty-eight voluntary university students and to classify them into attachment groups (secure, preoccupied, fearful, and dismissing). Eye-tracking was recorded while participants engaged in a 3-seconds free visual exploration of stimuli presenting either a positive or a negative picture together with a neutral picture, all depicting social interactions. The task consisted in identifying whether the two pictures depicted the same emotion. Results showed that the processing of negative pictures was impermeable to attachment style, while the processing of positive pictures was significantly influenced by individual differences in insecure attachment. The groups highly avoidant regarding to attachment (dismissing and fearful) showed reduced accuracy, suggesting a higher threshold for recognizing positive emotions compared to the secure group. The groups with higher attachment anxiety (preoccupied and fearful) showed differences in automatic capture of attention, in particular an increased delay preceding the first fixation to a picture of positive emotional valence. Despite lenient statistical thresholds induced by the limited sample size of some groups (p < 0.05 uncorrected for multiple comparisons), the current findings suggest that the processing of positive emotions is affected by attachment styles. These results are discussed within a broader evolutionary framework. © 2015 Scandinavian Psychological Associations and John Wiley & Sons Ltd.

  10. Cultural adaptation of visual attention: calibration of the oculomotor control system in accordance with cultural scenes.

    Directory of Open Access Journals (Sweden)

    Yoshiyuki Ueda

    Full Text Available Previous studies have found that Westerners are more likely than East Asians to attend to central objects (i.e., analytic attention, whereas East Asians are more likely than Westerners to focus on background objects or context (i.e., holistic attention. Recently, it has been proposed that the physical environment of a given culture influences the cultural form of scene cognition, although the underlying mechanism is yet unclear. This study examined whether the physical environment influences oculomotor control. Participants saw culturally neutral stimuli (e.g., a dog in a park as a baseline, followed by Japanese or United States scenes, and finally culturally neutral stimuli again. The results showed that participants primed with Japanese scenes were more likely to move their eyes within a broader area and they were less likely to fixate on central objects compared with the baseline, whereas there were no significant differences in the eye movements of participants primed with American scenes. These results suggest that culturally specific patterns in eye movements are partly caused by the physical environment.

  11. Corollary Discharge Failure in an Oculomotor Task Is Related to Delusional Ideation in Healthy Individuals

    Science.gov (United States)

    Malassis, Raphaëlle; Del Cul, Antoine; Collins, Thérèse

    2015-01-01

    Predicting the sensory consequences of saccadic eye movements likely plays a crucial role in planning sequences of saccades and in maintaining visual stability despite saccade-caused retinal displacements. Deficits in predictive activity, such as that afforded by a corollary discharge signal, have been reported in patients with schizophrenia, and may lead to the emergence of positive symptoms, in particular delusions of control and auditory hallucinations. We examined whether a measure of delusional thinking in the general, non-clinical population correlated with measures of predictive activity in two oculomotor tasks. The double-step task measured predictive activity in motor control, and the in-flight displacement task measured predictive activity in trans-saccadic visual perception. Forty-one healthy adults performed both tasks and completed a questionnaire to assess delusional thinking. The quantitative measure of predictive activity we obtained correlated with the tendency towards delusional ideation, but only for the motor task, and not the perceptual task: Individuals with higher levels of delusional thinking showed less self-movement information use in the motor task. Variation of the degree of self-generated movement knowledge as a function of the prevalence of delusional ideation in the normal population strongly supports the idea that corollary discharge deficits measured in schizophrenic patients in previous researches are not due to neuroleptic medication. We also propose that this difference in results between the perceptual and the motor tasks may point to a dissociation between corollary discharge for perception and corollary discharge for action. PMID:26305115

  12. 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.

  13. Dopamine transporter polymorphism modulates oculomotor function and DAT1 mRNA expression in schizophrenia.

    Science.gov (United States)

    Wonodi, Ikwunga; Hong, L Elliot; Stine, O Colin; Mitchell, Braxton D; Elliott, Amie; Roberts, Rosalinda C; Conley, Robert R; McMahon, Robert P; Thaker, Gunvant K

    2009-03-05

    Smooth pursuit eye movement (SPEM) deficit is an established schizophrenia endophenotype with a similar neurocognitive construct to working memory. Frontal eye field (FEF) neurons controlling SPEM maintain firing when visual sensory information is removed, and their firing rates directly correlate with SPEM velocity. We previously demonstrated a paradoxical association between a functional polymorphism of dopamine signaling (COMT gene) and SPEM. Recent evidence implicates the dopamine transporter gene (DAT1) in modulating cortical dopamine and associated neurocognitive functions. We hypothesized that DAT1 10/10 genotype, which reduces dopamine transporter expression and increases extracellular dopamine, would affect SPEM. We examined the effects of DAT1 genotype on: Clinical diagnosis in the study sample (n = 418; 190 with schizophrenia), SPEM measures in a subgroup with completed oculomotor measures (n = 200; 87 schizophrenia), and DAT1 gene expression in FEF tissue obtained from postmortem brain samples (n = 32; 16 schizophrenia). DAT1 genotype was not associated with schizophrenia. DAT1 10/10 genotype was associated with better SPEM in healthy controls, intermediate SPEM in unaffected first-degree relatives of schizophrenia subjects, and worse SPEM in schizophrenia subjects. In the gene expression study, DAT1 10/10 genotype was associated with significantly reduced DAT1 mRNA transcript in FEF tissue from healthy control donors (P < 0.05), but higher expression in schizophrenia donors. Findings suggest regulatory effects of another gene(s) or etiological factor in schizophrenia, which modulate DAT1 gene function. 2008 Wiley-Liss, Inc.

  14. Utility of quick oculomotor tests for screening the vestibular system in the subacute and chronic populations.

    Science.gov (United States)

    Cohen, Helen S; Stitz, Jasmine; Sangi-Haghpeykar, Haleh; Williams, Susan P; Mulavara, Ajitkumar P; Peters, Brian T; Bloomberg, Jacob J

    2018-04-01

    The goal of this study was to determine the sensitivity and specificity of some widely used, easily administered clinical tests. Simple tests of oculomotor function have become widely used for clinical screening of patients suspected of having vestibular disorders despite a paucity of evidence showing good statistical support for their use in this highly variable population. Healthy controls with no history of otologic or neurologic disorders (n = 291) were compared to patients with known vestibular disorders (n = 62). All subjects performed passive and active head shaking, un-instrumented head impulse tests (HT), and video head impulse tests (vHIT) recorded with infrared video-oculography. For both passive and active head shaking, using presence/absence of vertigo and of nystagmus, sensitivity was low (<0.40). Sensitivity of presence/absence of saccades on HT was even lower (<0.15). On vHIT, gains were all approximately = 1.0, so sensitivity was very low (approximately 0.15-0.35). Sensitivity and specificity for presence/absence of saccades were moderately poor (less than 0.70). None of these tests are adequate for screening patients in the out-patient clinic for vestibular disorders or for screening people in epidemiologic studies to determine the prevalence of vestibular disorders.

  15. 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.

  16. 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.

  17. [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.

  18. 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

  19. Congenital imprinting disorders

    DEFF Research Database (Denmark)

    Eggermann, Thomas; Netchine, Irène; Temple, I Karen

    2015-01-01

    Imprinting disorders (IDs) are a group of eight rare but probably underdiagnosed congenital diseases affecting growth, development and metabolism. They are caused by similar molecular changes affecting regulation, dosage or the genomic sequence of imprinted genes. Each ID is characterised...... by specific clinical features, and, as each appeared to be associated with specific imprinting defects, they have been widely regarded as separate entities. However, they share clinical characteristics and can show overlapping molecular alterations. Nevertheless, IDs are usually studied separately despite...... EUCID.net (European network of congenital imprinting disorders) now aims to promote better clinical care and scientific investigation of imprinting disorders by establishing a concerted multidisciplinary alliance of clinicians, researchers, patients and families. By encompassing all IDs and establishing...

  20. Congenital intestinal lymphangiectasia

    Directory of Open Access Journals (Sweden)

    Popović Dušan Đ.

    2011-01-01

    Full Text Available Background. Congenital intestinal lymphangiectasia is a disease which leads to protein losing enteropathy. Tortous, dilated lymphatic vessels in the intestinal wall and mesenterium are typical features of the disease. Clinical manifestations include malabsorption, diarrhea, steatorrhea, edema and effusions. Specific diet and medication are required for disease control. Case report. A 19-year old male patient was hospitalized due to diarrhea, abdominal swelling, weariness and fatigue. Physical examination revealed growth impairment, ascites, and lymphedema of the right hand and forearm. Laboratory assessment indicated iron deficiency anaemia, lymphopenia, malabsorption, inflammatory syndrome, and urinary infection. Enteroscopy and video capsule endoscopy demonstrated dilated lymphatic vessels in the small intestine. The diagnosis was confirmed by intestinal biopsy. The patient was put on high-protein diet containing medium-chain fatty acids, somatotropin and suportive therapy. Conclusion. Congenital intestinal lymphangiectasia is a rare disease, usually diagnosed in childhood. Early recognition of the disease and adequate treatment can prevent development of various complications.

  1. [Congenital intestinal lymphangiectasia].

    Science.gov (United States)

    Popović, Dugan D j; Spuran, Milan; Alempijević, Tamara; Krstić, Miodrag; Djuranović, Srdjan; Kovacević, Nada; Damnjanović, Svetozar; Micev, Marjan

    2011-03-01

    Congenital intestinal lymphangiectasia is a disease which leads to protein losing enteropathy. Tortuous, dilated lymphatic vessels in the intestinal wall and mesenterium are typical features of the disease. Clinical manifestations include malabsorption, diarrhea, steatorrhea, edema and effusions. Specific diet and medication are required for disease control. A 19-year old male patient was hospitalized due to diarrhea, abdominal swelling, weariness and fatigue. Physical examination revealed growth impairment, ascites, and lymphedema of the right hand and forearm. Laboratory assessment indicated iron deficiency anaemia, lymphopenia, malabsorption, inflammatory syndrome, and urinary infection. Enteroscopy and video capsule endoscopy demonstrated dilated lymphatic vessels in the small intestine. The diagnosis was confirmed by intestinal biopsy. The patient was put on high-protein diet containing medium-chain fatty acids, somatotropin and supportive therapy. Congenital intestinal lymphangiectasia is a rare disease, usually diagnosed in childhood. Early recognition of the disease and adequate treatment can prevent development of various complications.

  2. Congenital diaphramatic hernia

    Energy Technology Data Exchange (ETDEWEB)

    Kline-Fath, Beth M. [Cincinnati Children' s Hospital Medical Center, Department of Radiology, Fetal Care Center of Cincinnati, Cincinnati, OH (United States); Cincinnati Children' s Hospital Medical Center, Department of Radiology, MLC 5031, Cincinnati, OH (United States)

    2012-01-15

    Congenital diaphragmatic hernia, despite advances in therapy, remains a complex condition with significant morbidity and mortality. The etiology of the disorder is still incompletely understood, though the pulmonary hypoplasia and pulmonary hypertension that develop secondarily must be overcome to improve survival. Prenatal US and fetal MRI have helped in the development of a greater understanding of this disease. Also with these modalities, measurement techniques have been developed in an attempt to provide prognosticators for the development of pulmonary hypoplasia and pulmonary hypertension. There is a broad range of approaches for performing these measurements, and variability among imaging centers is noted. Despite inconsistent approaches, these techniques have become the foundation for counseling and prenatal and postnatal therapy. It is hoped that with further research with prenatal US and fetal MRI and the development of innovative medical and surgical therapies that the morbidity and mortality of children with congenital diaphragmatic hernias can be significantly reduced. (orig.)

  3. Congenital Hepatic Cyst

    Directory of Open Access Journals (Sweden)

    Aldo Recinos

    2017-04-01

    Full Text Available Congenital hepatic cyst is a rare and nonsymptomatic condition in infants and children. Its incidence is 2.5% in the postnatal life with a much lower incidence in the prenatal period. Incidental finding on antenatal imaging is the most common presentation. We present a case of a newborn in whom fetal ultrasound detected a cyst within the fetal liver. Postnatal imaging revealed a liver cyst in the right lobe of the liver, with no other intrahepatic structure affected. Liver function tests were abnormal, but the patient was asymptomatic. Posterior follow-up imaging showed a minor decrease in size. Management of congenital hepatic cyst is usually conservative, done with periodic ultrasound monitoring. However, surgical treatment is the mainstay of treatment when hydrops, progressive enlargement, hemorrhage, torsion, or compression of adjacent structures occurs. Malignant transformation can occur, but it is extremely rare. Partial or total removal of the cyst is the preferred treatment in neonates with a large lesion.

  4. Congenital diaphramatic hernia

    International Nuclear Information System (INIS)

    Kline-Fath, Beth M.

    2012-01-01

    Congenital diaphragmatic hernia, despite advances in therapy, remains a complex condition with significant morbidity and mortality. The etiology of the disorder is still incompletely understood, though the pulmonary hypoplasia and pulmonary hypertension that develop secondarily must be overcome to improve survival. Prenatal US and fetal MRI have helped in the development of a greater understanding of this disease. Also with these modalities, measurement techniques have been developed in an attempt to provide prognosticators for the development of pulmonary hypoplasia and pulmonary hypertension. There is a broad range of approaches for performing these measurements, and variability among imaging centers is noted. Despite inconsistent approaches, these techniques have become the foundation for counseling and prenatal and postnatal therapy. It is hoped that with further research with prenatal US and fetal MRI and the development of innovative medical and surgical therapies that the morbidity and mortality of children with congenital diaphragmatic hernias can be significantly reduced. (orig.)

  5. Characterizing Congenital Amusia

    OpenAIRE

    Stewart, Lauren

    2011-01-01

    The ability to make sense of the music in our environment involves sophisticated cognitive mechanisms that, for most people, are acquired effortlessly and in early life. A special population of individuals, with a disorder termed congenital amusia, report lifelong difficulties in this regard. Exploring the nature of this developmental disorder provides a window onto the cognitive architecture of typical musical processing, as well as allowing a study of the relationship between processing of ...

  6. 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

  7. The heart: Congenital disease

    International Nuclear Information System (INIS)

    Higgins, C.B.

    1987-01-01

    The most important diagnostic requirement in congenital heart disease (CHD) is definition of cardiovascular pathoanatomy. The considerable success in operative correction of even the most complex anomalies in recent years compels ever increasing precision in preoperative demonstration of these anomalies. Early experience with magnetic resonance imaging (MRI) at several institutions indicated that this modality is an effective noninvasive technique for evaluation of CHD. Indeed, MRI seems to have some advantage over other techniques, including angiography, for definitive diagnosis of congenital anomalies of the heart and great arteries and veins. The absence of ionizing radiation and contrast medium in MRI is an additional advantage; the former is particularly important for children, who, up to this time, have frequently been subjected to enormous radiation burdens from multiple cineangiograms during initial diagnosis and follow-up. This chapter describes the MRI appearance of cardiovascular anatomy im the segmental fashion proposed for analysis of complex CHD. Likewise, MRI demonstration of congenital cardiovascular lesions is organized into abnormalities situated at the four segmental cardiovascular levels: great vessels, atria, ventricles, and visceroatrial relationship. The role of MRI in evaluation of complex ventricular anomalies such as single ventricle and thoracic aortic abnormalities is specifically described

  8. 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

  9. 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

  10. Cholinergic Oculomotor Nucleus Activity Is Induced by REM Sleep Deprivation Negatively Impacting on Cognition.

    Science.gov (United States)

    Santos, Patrícia Dos; Targa, Adriano D S; Noseda, Ana Carolina D; Rodrigues, Lais S; Fagotti, Juliane; Lima, Marcelo M S

    2017-09-01

    Several efforts have been made to understand the involvement of rapid eye movement (REM) sleep for cognitive processes. Consolidation or retention of recognition memories is severely disrupted by REM sleep deprivation (REMSD). In this regard, pedunculopontine tegmental nucleus (PPT) and other brainstem nuclei, such as pontine nucleus (Pn) and oculomotor nucleus (OCM), appear to be candidates to take part in this REM sleep circuitry with potential involvement in cognition. Therefore, the objective of this study was to investigate a possible association between the performance of Wistar rats in a declarative memory and PPT, Pn, and OCM activities after different periods of REMSD. We examined c-Fos and choline acetyltransferase (ChaT) expressions as indicators of neuronal activity as well as a familiarity-based memory test. The animals were distributed in groups: control, REMSD, and sleep rebound (REB). At the end of the different REMSD (24, 48, 72, and 96 h) and REB (24 h) time points, the rats were immediately tested in the object recognition test and then the brains were collected. Results indicated that OCM neurons presented an increased activity, due to ChaT-labeling associated with REMSD that negatively correlated (r = -0.32) with the cognitive performance. This suggests the existence of a cholinergic compensatory mechanism within the OCM during REMSD. We also showed that 24 h of REMSD impacted similarly in memory, compared to longer periods of REMSD. These data extend the notion that REM sleep is influenced by areas other than PPT, i.e., Pn and OCM, which could be key players in both sleep processes and cognition.

  11. Presbyequilibrium in the oldest old, a combination of vestibular, oculomotor and postural deficits.

    Science.gov (United States)

    Tuunainen, Eeva; Poe, Dennis; Jäntti, Pirkko; Varpa, Kirsi; Rasku, Jyrki; Toppila, Esko; Pyykkö, Ilmari

    2011-01-01

    Dizziness, impaired balance and fear of falling are common complaints in the elderly. We evaluated the association of vestibular symptoms with vestibular findings in the elderly by posturography and video-oculography (VOG). We studied 38 oldest old subjects (≥ 85 yrs, mean age 89) living in a residential home. Vestibular symptoms were taken with a structured questionnaire, the Mini Mental State Examination (MMSE) was scored and any falls were recorded over a period of 12 months. Posturography was measured with a force platform and eye movements were measured by video-oculography. In the majority of the elderly, vestibular abnormalities were found, such as reduced vestibulo-ocular reflex gain 6/38, spontaneous nystagmus 5/38, gaze deviation nystagmus 5/38, head shaking nystagmus 9/38, pathologic head thrust test 10/38, and positional nystagmus 17/38. Posturography demonstrated two major findings: the body support area was limited and the use of vision for postural control was reduced. In principal component analysis of the vertigo, four major factors described elements of failure in the vestibular and other systems important to maintenance of balance: episodic vertigo, postural instability, multisystem failure (frail) and presyncopal imbalance. These four factors were associated in different degrees to vestibular abnormalities and falls. During the follow-up period, in 19 elderly (19/38), one or more falls were recorded. Progressive loss of balance in the aged, or "presbyequilibrium," is a complex and incompletely understood process involving vestibular, oculomotor, visual acuity, proprioception, motor, organ system and metabolic weaknesses and disorders. These factors provide a potential basis for streamlining diagnostic evaluations and aiding in planning for effective therapy. In oldest old, these problems are magnified, increasing the need for additional expertise in their care, which may be met by training specialized healthcare staff.

  12. Differential reward coding in the subdivisions of the primate caudate during an oculomotor task.

    Science.gov (United States)

    Nakamura, Kae; Santos, Gustavo S; Matsuzaki, Ryuichi; Nakahara, Hiroyuki

    2012-11-07

    The basal ganglia play a pivotal role in reward-oriented behavior. The striatum, an input channel of the basal ganglia, is composed of subdivisions that are topographically connected with different cortical and subcortical areas. To test whether reward information is differentially processed in the different parts of the striatum, we compared reward-related neuronal activity along the dorsolateral-ventromedial axis in the caudate nucleus of monkeys performing an asymmetrically rewarded oculomotor task. In a given block, a target in one position was associated with a large reward, whereas the other target was associated with a small reward. The target position-reward value contingency was switched between blocks. We found the following: (1) activity that reflected the block-wise reward contingency emerged before the appearance of a visual target, and it was more prevalent in the dorsal, rather than central and ventral, caudate; (2) activity that was positively related to the reward size of the current trial was evident, especially after reward delivery, and it was more prevalent in the ventral and central, rather than dorsal, caudate; and (3) activity that was modulated by the memory of the outcomes of the previous trials was evident in the dorsal and central caudate. This multiple reward information, together with the target-direction information, was represented primarily by individual caudate neurons, and the different reward information was represented in caudate subpopulations with distinct electrophysiological properties, e.g., baseline firing and spike width. These results suggest parallel processing of different reward information by the basal ganglia subdivisions defined by extrinsic connections and intrinsic properties.

  13. 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.

  14. 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 ...

  15. 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.

  16. 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

  17. 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 ...

  18. Progressive apraxia of speech as a window into the study of speech planning processes.

    Science.gov (United States)

    Laganaro, Marina; Croisier, Michèle; Bagou, Odile; Assal, Frédéric

    2012-09-01

    We present a 3-year follow-up study of a patient with progressive apraxia of speech (PAoS), aimed at investigating whether the theoretical organization of phonetic encoding is reflected in the progressive disruption of speech. As decreased speech rate was the most striking pattern of disruption during the first 2 years, durational analyses were carried out longitudinally on syllables excised from spontaneous, repetition and reading speech samples. The crucial result of the present study is the demonstration of an effect of syllable frequency on duration: the progressive disruption of articulation rate did not affect all syllables in the same way, but followed a gradient that was function of the frequency of use of syllable-sized motor programs. The combination of data from this case of PAoS with previous psycholinguistic and neurolinguistic data, points to a frequency organization of syllable-sized speech-motor plans. In this study we also illustrate how studying PAoS can be exploited in theoretical and clinical investigations of phonetic encoding as it represents a unique opportunity to investigate speech while it progressively disrupts. Copyright © 2011 Elsevier Srl. All rights reserved.

  19. Prelinguistic communication development in children with childhood apraxia of speech: a retrospective analysis.

    Science.gov (United States)

    Highman, Chantelle; Leitão, Suze; Hennessey, Neville; Piek, Jan

    2012-02-01

    In a retrospective study of prelinguistic communication development, clinically referred preschool children (n = 9) aged 3-4 years, who as infants had failed a community-based screening program, were evaluated for features of childhood apraxia of speech (CAS). Four children showed no features and either delayed or normal language, five had from three-to-seven CAS features and all exhibited delayed language. These children were matched by age with 21 children with typically-developing (TD) speech and language skills. Case-control comparisons of retrospective data from 9 months of age for two participants with more severe features of CAS at preschool age showed a dissociated pattern with low expressive quotients on the Receptive-Expressive Emergent Language Assessment-Second Edition (REEL-2) and records of infrequent babbling, but normal receptive quotients. However, other profiles were observed. Two children with milder CAS features showed poor receptive and expressive development similar to other clinically referred children with no CAS features, and one child with severe CAS features showed poor receptive but normal expressive developmental milestones at 9 months and records of frequent babbling. Results suggest some but not all children with features of suspected CAS have a selective deficit originating within speech motor development.

  20. Through the magnifying glass: Underlying literacy deficits and remediation potential in childhood apraxia of speech.

    Science.gov (United States)

    Zaretsky, Elena; Velleman, Shelley L; Curro, Kristina

    2010-02-01

    Interactions among psycholinguistic deficits and literacy difficulties in childhood apraxia of speech (CAS) have been inadequately studied. Comparisons with other disorders (Specific Language Impairment (SLI) and phonological dyslexia) and the possibility of reading remediation in CAS warrant further research. This case study describes the speech, language, cognitive, and literacy deficits and therapy gains in a girl aged 11;6 with severe CAS and borderline IQ. A comprehensive assessment of literacy-related cognitive skills, including phonological memory and working memory capacity, language, speech production and reading skills, was administered. Treatment from 6;0 to 11;6 targeted speech sounds, oral sequencing, phonological awareness (PA), speech-print connections, syllabic structure, and real and non-word decoding. Phonological memory was similar to that of children with SLI, but working memory was significantly worse. Unlike children with phonological dyslexia, our participant demonstrated relative strength in letter-sound correspondence rules. Despite deficits, she made progress in literacy with intensive long-term intervention. Results suggest that the underlying cognitive-linguistic profile of children with CAS may differ from those of children with SLI or dyslexia. Our results also show that long-term intensive intervention promotes acquisition of adequate literacy skills even in a child with a severe motor speech disorder and borderline IQ.

  1. Phonological simplifications, apraxia of speech and the interaction between phonological and phonetic processing.

    Science.gov (United States)

    Galluzzi, Claudia; Bureca, Ivana; Guariglia, Cecilia; Romani, Cristina

    2015-05-01

    Research on aphasia has struggled to identify apraxia of speech (AoS) as an independent deficit affecting a processing level separate from phonological assembly and motor implementation. This is because AoS is characterized by both phonological and phonetic errors and, therefore, can be interpreted as a combination of deficits at the phonological and the motoric level rather than as an independent impairment. We apply novel psycholinguistic analyses to the perceptually phonological errors made by 24 Italian aphasic patients. We show that only patients with relative high rate (>10%) of phonetic errors make sound errors which simplify the phonology of the target. Moreover, simplifications are strongly associated with other variables indicative of articulatory difficulties - such as a predominance of errors on consonants rather than vowels - but not with other measures - such as rate of words reproduced correctly or rates of lexical errors. These results indicate that sound errors cannot arise at a single phonological level because they are different in different patients. Instead, different patterns: (1) provide evidence for separate impairments and the existence of a level of articulatory planning/programming intermediate between phonological selection and motor implementation; (2) validate AoS as an independent impairment at this level, characterized by phonetic errors and phonological simplifications; (3) support the claim that linguistic principles of complexity have an articulatory basis since they only apply in patients with associated articulatory difficulties. Copyright © 2015 The Authors. Published by Elsevier Ltd.. All rights reserved.

  2. The role of metrical information in apraxia of speech. Perceptual and acoustic analyses of word stress.

    Science.gov (United States)

    Aichert, Ingrid; Späth, Mona; Ziegler, Wolfram

    2016-02-01

    Several factors are known to influence speech accuracy in patients with apraxia of speech (AOS), e.g., syllable structure or word length. However, the impact of word stress has largely been neglected so far. More generally, the role of prosodic information at the phonetic encoding stage of speech production often remains unconsidered in models of speech production. This study aimed to investigate the influence of word stress on error production in AOS. Two-syllabic words with stress on the first (trochees) vs. the second syllable (iambs) were compared in 14 patients with AOS, three of them exhibiting pure AOS, and in a control group of six normal speakers. The patients produced significantly more errors on iambic than on trochaic words. A most prominent metrical effect was obtained for segmental errors. Acoustic analyses of word durations revealed a disproportionate advantage of the trochaic meter in the patients relative to the healthy controls. The results indicate that German apraxic speakers are sensitive to metrical information. It is assumed that metrical patterns function as prosodic frames for articulation planning, and that the regular metrical pattern in German, the trochaic form, has a facilitating effect on word production in patients with AOS. Copyright © 2016 Elsevier Ltd. All rights reserved.

  3. 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.

  4. 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.

  5. Using randomized variable practice in the treatment of childhood apraxia of speech.

    Science.gov (United States)

    Skelton, Steven L; Hagopian, Aubrie Lynn

    2014-11-01

    The purpose of this study was to determine if randomized variable practice, a central component of concurrent treatment, would be effective and efficient in treating childhood apraxia of speech (CAS). Concurrent treatment is a treatment program that takes the speech task hierarchy and randomizes it so that all tasks are worked on in one session. Previous studies have shown the treatment program to be effective and efficient in treating phonological and articulation disorders. The program was adapted to be used with children with CAS. A research design of multiple baselines across participants was used. Probes of generalization to untaught words were administered every fifth session. Three children, ranging in age from 4 to 6 years old, were the participants. Data were collected as percent correct productions during baseline, treatment, and probes of generalization of target sounds to untaught words and three-word phrases. All participants showed an increase in correct productions during treatment and during probes. Effect sizes (standard mean difference) for treatment were 3.61-5.00, and for generalization probes, they were 3.15-8.51. The results obtained from this study suggest that randomized variable practice as used in concurrent treatment can be adapted for use in treating children with CAS. Replication of this study with other children presenting CAS will be needed to establish generality of the findings.

  6. 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.

  7. 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.

  8. Treating speech subsystems in childhood apraxia of speech with tactual input: the PROMPT approach.

    Science.gov (United States)

    Dale, Philip S; Hayden, Deborah A

    2013-11-01

    Prompts for Restructuring Oral Muscular Phonetic Targets (PROMPT; Hayden, 2004; Hayden, Eigen, Walker, & Olsen, 2010)-a treatment approach for the improvement of speech sound disorders in children-uses tactile-kinesthetic- proprioceptive (TKP) cues to support and shape movements of the oral articulators. No research to date has systematically examined the efficacy of PROMPT for children with childhood apraxia of speech (CAS). Four children (ages 3;6 [years;months] to 4;8), all meeting the American Speech-Language-Hearing Association (2007) criteria for CAS, were treated using PROMPT. All children received 8 weeks of 2 × per week treatment, including at least 4 weeks of full PROMPT treatment that included TKP cues. During the first 4 weeks, 2 of the 4 children received treatment that included all PROMPT components except TKP cues. This design permitted both between-subjects and within-subjects comparisons to evaluate the effect of TKP cues. Gains in treatment were measured by standardized tests and by criterion-referenced measures based on the production of untreated probe words, reflecting change in speech movements and auditory perceptual accuracy. All 4 children made significant gains during treatment, but measures of motor speech control and untreated word probes provided evidence for more gain when TKP cues were included. PROMPT as a whole appears to be effective for treating children with CAS, and the inclusion of TKP cues appears to facilitate greater effect.

  9. 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.

  10. Predicting clinical decline in progressive agrammatic aphasia and apraxia of speech.

    Science.gov (United States)

    Whitwell, Jennifer L; Weigand, Stephen D; Duffy, Joseph R; Clark, Heather M; Strand, Edythe A; Machulda, Mary M; Spychalla, Anthony J; Senjem, Matthew L; Jack, Clifford R; Josephs, Keith A

    2017-11-28

    To determine whether baseline clinical and MRI features predict rate of clinical decline in patients with progressive apraxia of speech (AOS). Thirty-four patients with progressive AOS, with AOS either in isolation or in the presence of agrammatic aphasia, were followed up longitudinally for up to 4 visits, with clinical testing and MRI at each visit. Linear mixed-effects regression models including all visits (n = 94) were used to assess baseline clinical and MRI variables that predict rate of worsening of aphasia, motor speech, parkinsonism, and behavior. Clinical predictors included baseline severity and AOS type. MRI predictors included baseline frontal, premotor, motor, and striatal gray matter volumes. More severe parkinsonism at baseline was associated with faster rate of decline in parkinsonism. Patients with predominant sound distortions (AOS type 1) showed faster rates of decline in aphasia and motor speech, while patients with segmented speech (AOS type 2) showed faster rates of decline in parkinsonism. On MRI, we observed trends for fastest rates of decline in aphasia in patients with relatively small left, but preserved right, Broca area and precentral cortex. Bilateral reductions in lateral premotor cortex were associated with faster rates of decline of behavior. No associations were observed between volumes and decline in motor speech or parkinsonism. Rate of decline of each of the 4 clinical features assessed was associated with different baseline clinical and regional MRI predictors. Our findings could help improve prognostic estimates for these patients. © 2017 American Academy of Neurology.

  11. 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.

  12. Quantification and Systematic Characterization of Stuttering-Like Disfluencies in Acquired Apraxia of Speech.

    Science.gov (United States)

    Bailey, Dallin J; Blomgren, Michael; DeLong, Catharine; Berggren, Kiera; Wambaugh, Julie L

    2017-06-22

    The purpose of this article is to quantify and describe stuttering-like disfluencies in speakers with acquired apraxia of speech (AOS), utilizing the Lidcombe Behavioural Data Language (LBDL). Additional purposes include measuring test-retest reliability and examining the effect of speech sample type on disfluency rates. Two types of speech samples were elicited from 20 persons with AOS and aphasia: repetition of mono- and multisyllabic words from a protocol for assessing AOS (Duffy, 2013), and connected speech tasks (Nicholas & Brookshire, 1993). Sampling was repeated at 1 and 4 weeks following initial sampling. Stuttering-like disfluencies were coded using the LBDL, which is a taxonomy that focuses on motoric aspects of stuttering. Disfluency rates ranged from 0% to 13.1% for the connected speech task and from 0% to 17% for the word repetition task. There was no significant effect of speech sampling time on disfluency rate in the connected speech task, but there was a significant effect of time for the word repetition task. There was no significant effect of speech sample type. Speakers demonstrated both major types of stuttering-like disfluencies as categorized by the LBDL (fixed postures and repeated movements). Connected speech samples yielded more reliable tallies over repeated measurements. Suggestions are made for modifying the LBDL for use in AOS in order to further add to systematic descriptions of motoric disfluencies in this disorder.

  13. Motor recovery by improvement of limb-kinetic apraxia in a chronic stroke patient.

    Science.gov (United States)

    Jang, Sung Ho

    2013-01-01

    We report on a chronic stroke patient who showed motor recovery by improvement of limb-kinetic apraxia (LKA) after undergoing intensive rehabilitation for a period of one month, which was demonstrated by diffusion tensor tractography (DTT) and transcranial magnetic stimulation (TMS). A 50-year-old male patient presented with severe paralysis of the left extremities at the onset of thalamic hemorrhage. At thirty months after onset, the patient exhibited moderate weakness of his left upper and lower extremities. In addition, he exhibited a slow, clumsy, and mutilated movement pattern during grasp-release movements of his left hand. During a one-month period of intensive rehabilitation, which was started at thrity months after onset, the patient showed 22% motor recovery of the left extremities. The slow, clumsy, and mutilated movement pattern of the left hand almost disappeared. DTTs of the corticospinal tract (CST) in both hemispheres originated from the cerebral cortex, including the primary motor cortex, and passed along the known CST pathway. The DTT of the right CST was located anterior to the old hemorrhagic lesion. TMS study performed at thirty and thirty-one months after onset showed normal and similar findings for motor evoked potential in terms of latency and amplitude of the left hand muscle. We think that the motor weakness of the left extremities in this patient was mainly ascribed to LKA and that most of the motor recovery during a one-month period of rehabilitation was attributed to improvement of LKA.

  14. Comparing cognition, mealtime performance, and nutritional status in people with dementia with or without ideational apraxia.

    Science.gov (United States)

    Wu, Hua-Shan; Lin, Li-Chan

    2015-03-01

    To describe the prevalence rate of ideational apraxia (IA) affecting self-feeding in people with dementia, confirm the stage of dementia at which IA most commonly occurs, and compare mealtime performance and nutritional status between people with dementia (PWD) with and without IA. A cross-sectional design with between-subject comparison was used. Among the 395 potential participants recruited from dementia special care units at nine long-term care facilities in central and northern Taiwan, 98 met the operational definition of IA and were included in the PWD with IA group. From the remaining pool, 98 participants, matched for age and sex with the PWD with IA group, were randomly allocated to the PWD without IA group. Eating Behavior Scale (EBS) scores, food intake, total eating time, meal assistance, body mass index, Mini-Nutritional Assessment (MNA), and Mini-Mental State Examination scores were collected. The prevalence rate of IA affecting self-feeding in our study population of PWD was 24.8%. PWD with IA had significantly lower EBS scores, had more food intake (p performance and nutritional status. For PWD with IA, reassigning staff at mealtimes based on eating ability and providing memory training are recommended. © The Author(s) 2014.

  15. Mechanical problem-solving strategies in left-brain damaged patients and apraxia of tool use.

    Science.gov (United States)

    Osiurak, François; Jarry, Christophe; Lesourd, Mathieu; Baumard, Josselin; Le Gall, Didier

    2013-08-01

    Left brain damage (LBD) can impair the ability to use familiar tools (apraxia of tool use) as well as novel tools to solve mechanical problems. Thus far, the emphasis has been placed on quantitative analyses of patients' performance. Nevertheless, the question still to be answered is, what are the strategies employed by those patients when confronted with tool use situations? To answer it, we asked 16 LBD patients and 43 healthy controls to solve mechanical problems by means of several potential tools. To specify the strategies, we recorded the time spent in performing four kinds of action (no manipulation, tool manipulation, box manipulation, and tool-box manipulation) as well as the number of relevant and irrelevant tools grasped. We compared LBD patients' performance with that of controls who encountered difficulties with the task (controls-) or not (controls+). Our results indicated that LBD patients grasped a higher number of irrelevant tools than controls+ and controls-. Concerning time allocation, controls+ and controls- spent significantly more time in performing tool-box manipulation than LBD patients. These results are inconsistent with the possibility that LBD patients could engage in trial-and-error strategies and, rather, suggest that they tend to be perplexed. These findings seem to indicate that the inability to reason about the objects' physical properties might prevent LBD patients from following any problem-solving strategy. Copyright © 2013 Elsevier Ltd. All rights reserved.

  16. 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.

  17. Small intragenic deletion in FOXP2 associated with childhood apraxia of speech and dysarthria.

    Science.gov (United States)

    Turner, Samantha J; Hildebrand, Michael S; Block, Susan; Damiano, John; Fahey, Michael; Reilly, Sheena; Bahlo, Melanie; Scheffer, Ingrid E; Morgan, Angela T

    2013-09-01

    Relatively little is known about the neurobiological basis of speech disorders although genetic determinants are increasingly recognized. The first gene for primary speech disorder was FOXP2, identified in a large, informative family with verbal and oral dyspraxia. Subsequently, many de novo and familial cases with a severe speech disorder associated with FOXP2 mutations have been reported. These mutations include sequencing alterations, translocations, uniparental disomy, and genomic copy number variants. We studied eight probands with speech disorder and their families. Family members were phenotyped using a comprehensive assessment of speech, oral motor function, language, literacy skills, and cognition. Coding regions of FOXP2 were screened to identify novel variants. Segregation of the variant was determined in the probands' families. Variants were identified in two probands. One child with severe motor speech disorder had a small de novo intragenic FOXP2 deletion. His phenotype included features of childhood apraxia of speech and dysarthria, oral motor dyspraxia, receptive and expressive language disorder, and literacy difficulties. The other variant was found in a family in two of three family members with stuttering, and also in the mother with oral motor impairment. This variant was considered a benign polymorphism as it was predicted to be non-pathogenic with in silico tools and found in database controls. This is the first report of a small intragenic deletion of FOXP2 that is likely to be the cause of severe motor speech disorder associated with language and literacy problems. Copyright © 2013 Wiley Periodicals, Inc.

  18. Crossover learning of gestures in two ideomotor apraxia patients: A single case experimental design study.

    Science.gov (United States)

    Shimizu, Daisuke; Tanemura, Rumi

    2017-06-01

    Crossover learning may aid rehabilitation in patients with neurological disorders. Ideomotor apraxia (IMA) is a common sequela of left-brain damage that comprises a deficit in the ability to perform gestures to verbal commands or by imitation. This study elucidated whether crossover learning occurred in two post-stroke IMA patients without motor paralysis after gesture training approximately 2 months after stroke onset. We quantitatively analysed the therapeutic intervention history and investigated whether revised action occurred during gesture production. Treatment intervention was to examine how to influence improvement and generalisation of the ability to produce the gesture. This study used an alternating treatments single-subject design, and the intervention method was errorless learning. Results indicated crossover learning in both patients. Qualitative analysis indicated that revised action occurred during the gesture-production process in one patient and that there were two types of post-revised action gestures: correct and incorrect gestures. We also discovered that even when a comparably short time had elapsed since stroke onset, generalisation was difficult. Information transfer between the left and right hemispheres of the brain via commissural fibres is important in crossover learning. In conclusion, improvements in gesture-production skill should be made with reference to the left cerebral hemisphere disconnection hypothesis.

  19. Prevalence of Congenital Malformations

    Directory of Open Access Journals (Sweden)

    Akhavan Karbasi Sedighah

    2009-05-01

    Full Text Available Congenital malformation (CM will begin to emerge as one of the major childhood health problems .Treatment and rehabilitation of children with congenital malformations are costly and complete recovery is usually impossible. The aim of this study was to determine frequency of CM in Yazd central city of the Islamic Republic of Iran to find out if there has been any difference in the rate and types of CM in this area. This descriptive-observational study carried on 4800 births delivered at all maternity hospitals in Yazd from October 2003 to June 2004. Prevalence of CM was 2.83% (2.86 % in male and 2.68 % in female out of the 136 cases 69(51.88% were males and 64 (48.12% were females and 3 with ambiguous genitalia. Positive family history of CM in sibling was in only 6 cases (4.41%.Overall, musculoskeletal (0.83%, central nerv-ous system (0.47% and genital system (0.37% were accounted as the most common. Frequency of CM was more seen in still birth (12.5% as in comparison to live birth (2.71%. There was not statistical difference be-tween prevalence of CM and neonatal's gender, gestational age, birth order and mother's age, drug ingestion, illness and parental consanguinity. In this study the overall prevalence of congenital malformation among the newborn was higher than those previous reported in Iran and determining the causes of this difference needs more extensive studies.

  20. Congenital Midureteric Stricture

    Directory of Open Access Journals (Sweden)

    Singh Shalinder

    2001-01-01

    Full Text Available Congenital midureteric obstruction is a rare entity which can be caused by either ureteric valves or strictures. We report our experience with four patients with midureteric obstruction due to stricture over a six-year period. The condition needs to be differentiated from obstruction of the pelviureteric and vesicoureteric junctions. Obstruction can be initially screened by ultrasound and confirmed by a radionuclide scan with furosemide challenge. Retrograde ureteropyelography and/or intravenous urography may be required to define the level of the stricture.

  1. Nonclassic Congenital Adrenal Hyperplasia

    Directory of Open Access Journals (Sweden)

    Selma Feldman Witchel

    2010-01-01

    Full Text Available Nonclassic congenital adrenal hyperplasia (NCAH due to P450c21 (21-hydroxylase deficiency is a common autosomal recessive disorder. This disorder is due to mutations in the CYP21A2 gene which is located at chromosome 6p21. The clinical features predominantly reflect androgen excess rather than adrenal insufficiency leading to an ascertainment bias favoring diagnosis in females. Treatment goals include normal linear growth velocity and “on-time” puberty in affected children. For adolescent and adult women, treatment goals include regularization of menses, prevention of progression of hirsutism, and fertility. This paper will review key aspects regarding pathophysiology, diagnosis, and treatment of NCAH.

  2. 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.

  3. 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 ...

  4. [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

  5. 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)

  6. 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.

  7. 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.

  8. Congenital nephrotic syndrome

    Directory of Open Access Journals (Sweden)

    Claudia Fanni

    2014-06-01

    Full Text Available CNS (Congenital nephrotic syndrome is a disorder characterized by the presence of a nephrotic syndrome in the first three months of life. Different pathologies can cause this syndrome. In general, we can distinguish primary forms (sporadic and hereditary and secondary forms (acquired and associated with other syndromes. The most common form is the Finnish CNS (CNF, congenital nephrotic syndrome of the Finnish type, a hereditary form whose name derives from the fact that the highest incidence is described in that country (1.2:10,000. The pathogenesis, the clinical picture, the diagnostic criteria, the therapy and the outcome are described in details.  Proceedings of the International Course on Perinatal Pathology (part of the 10th International Workshop on Neonatology · October 22nd-25th, 2014 · Cagliari (Italy · October 25th, 2014 · The role of the clinical pathological dialogue in problem solving Guest Editors: Gavino Faa, Vassilios Fanos, Peter Van Eyken

  9. Congenital extrahepatic portosystemic shunts

    Energy Technology Data Exchange (ETDEWEB)

    Murray, Conor P.; Yoo, Shi-Joon; Babyn, Paul S. [Department of Diagnostic Imaging, Hospital for Sick Children, 555 University Avenue, M5G 1X8, Toronto, Ontario (Canada)

    2003-09-01

    A congenital extrahepatic portosystemic shunt (CEPS) is uncommon. A type 1 CEPS exists where there is absence of intrahepatic portal venous supply and a type 2 CEPS where this supply is preserved. The diagnosis of congenital portosystemic shunt is important because it may cause hepatic encephalopathy. To describe the clinical and imaging features of three children with CEPS and to review the cases in the published literature. The diagnostic imaging and medical records for three children with CEPS were retrieved and evaluated. An extensive literature search was performed. Including our cases, there are 61 reported cases of CEPS, 39 type 1 and 22 type 2. Type 1 occurs predominantly in females, while type 2 shows no significant sexual preponderance. The age at diagnosis ranges from 31 weeks of intrauterine life to 76 years. Both types of CEPS have a number of associations, the most common being nodular lesions of the liver (n=25), cardiac anomalies (n=19), portosystemic encephalopathy (n=10), polysplenia (n=9), biliary atresia (n=7), skeletal anomalies (n=5), and renal tract anomalies (n=4). MRI is recommended as an important means of diagnosing and classifying cases of CEPS and examining the associated cardiovascular and hepatic abnormalities. Screening for CEPS in patients born with polysplenia is suggested. (orig.)

  10. Congenital extrahepatic portosystemic shunts

    International Nuclear Information System (INIS)

    Murray, Conor P.; Yoo, Shi-Joon; Babyn, Paul S.

    2003-01-01

    A congenital extrahepatic portosystemic shunt (CEPS) is uncommon. A type 1 CEPS exists where there is absence of intrahepatic portal venous supply and a type 2 CEPS where this supply is preserved. The diagnosis of congenital portosystemic shunt is important because it may cause hepatic encephalopathy. To describe the clinical and imaging features of three children with CEPS and to review the cases in the published literature. The diagnostic imaging and medical records for three children with CEPS were retrieved and evaluated. An extensive literature search was performed. Including our cases, there are 61 reported cases of CEPS, 39 type 1 and 22 type 2. Type 1 occurs predominantly in females, while type 2 shows no significant sexual preponderance. The age at diagnosis ranges from 31 weeks of intrauterine life to 76 years. Both types of CEPS have a number of associations, the most common being nodular lesions of the liver (n=25), cardiac anomalies (n=19), portosystemic encephalopathy (n=10), polysplenia (n=9), biliary atresia (n=7), skeletal anomalies (n=5), and renal tract anomalies (n=4). MRI is recommended as an important means of diagnosing and classifying cases of CEPS and examining the associated cardiovascular and hepatic abnormalities. Screening for CEPS in patients born with polysplenia is suggested. (orig.)

  11. 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 ...

  12. 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 ...

  13. 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…

  14. 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.

  15. 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

  16. 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…

  17. 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…

  18. 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…

  19. 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…

  20. 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…

  1. Genetic Candidate Variants in Two Multigenerational Families with Childhood Apraxia of Speech.

    Directory of Open Access Journals (Sweden)

    Beate Peter

    Full Text Available Childhood apraxia of speech (CAS is a severe and socially debilitating form of speech sound disorder with suspected genetic involvement, but the genetic etiology is not yet well understood. Very few known or putative causal genes have been identified to date, e.g., FOXP2 and BCL11A. Building a knowledge base of the genetic etiology of CAS will make it possible to identify infants at genetic risk and motivate the development of effective very early intervention programs. We investigated the genetic etiology of CAS in two large multigenerational families with familial CAS. Complementary genomic methods included Markov chain Monte Carlo linkage analysis, copy-number analysis, identity-by-descent sharing, and exome sequencing with variant filtering. No overlaps in regions with positive evidence of linkage between the two families were found. In one family, linkage analysis detected two chromosomal regions of interest, 5p15.1-p14.1, and 17p13.1-q11.1, inherited separately from the two founders. Single-point linkage analysis of selected variants identified CDH18 as a primary gene of interest and additionally, MYO10, NIPBL, GLP2R, NCOR1, FLCN, SMCR8, NEK8, and ANKRD12, possibly with additive effects. Linkage analysis in the second family detected five regions with LOD scores approaching the highest values possible in the family. A gene of interest was C4orf21 (ZGRF1 on 4q25-q28.2. Evidence for previously described causal copy-number variations and validated or suspected genes was not found. Results are consistent with a heterogeneous CAS etiology, as is expected in many neurogenic disorders. Future studies will investigate genome variants in these and other families with CAS.

  2. Clinical and MRI models predicting amyloid deposition in progressive aphasia and apraxia of speech.

    Science.gov (United States)

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

    2016-01-01

    Beta-amyloid (Aβ) deposition can be observed in primary progressive aphasia (PPA) and progressive apraxia of speech (PAOS). While it is typically associated with logopenic PPA, there are exceptions that make predicting Aβ status challenging based on clinical diagnosis alone. We aimed to determine whether MRI regional volumes or clinical data could help predict Aβ deposition. One hundred and thirty-nine PPA (n = 97; 15 agrammatic, 53 logopenic, 13 semantic and 16 unclassified) and PAOS (n = 42) subjects were prospectively recruited into a cross-sectional study and underwent speech/language assessments, 3.0 T MRI and C11-Pittsburgh Compound B PET. The presence of Aβ was determined using a 1.5 SUVR cut-point. Atlas-based parcellation was used to calculate gray matter volumes of 42 regions-of-interest across the brain. Penalized binary logistic regression was utilized to determine what combination of MRI regions, and what combination of speech and language tests, best predicts Aβ (+) status. The optimal MRI model and optimal clinical model both performed comparably in their ability to accurately classify subjects according to Aβ status. MRI accurately classified 81% of subjects using 14 regions. Small left superior temporal and inferior parietal volumes and large left Broca's area volumes were particularly predictive of Aβ (+) status. Clinical scores accurately classified 83% of subjects using 12 tests. Phonological errors and repetition deficits, and absence of agrammatism and motor speech deficits were particularly predictive of Aβ (+) status. In comparison, clinical diagnosis was able to accurately classify 89% of subjects. However, the MRI model performed well in predicting Aβ deposition in unclassified PPA. Clinical diagnosis provides optimum prediction of Aβ status at the group level, although regional MRI measurements and speech and language testing also performed well and could have advantages in predicting Aβ status in unclassified PPA subjects.

  3. Genetic Candidate Variants in Two Multigenerational Families with Childhood Apraxia of Speech.

    Science.gov (United States)

    Peter, Beate; Wijsman, Ellen M; Nato, Alejandro Q; Matsushita, Mark M; Chapman, Kathy L; Stanaway, Ian B; Wolff, John; Oda, Kaori; Gabo, Virginia B; Raskind, Wendy H

    2016-01-01

    Childhood apraxia of speech (CAS) is a severe and socially debilitating form of speech sound disorder with suspected genetic involvement, but the genetic etiology is not yet well understood. Very few known or putative causal genes have been identified to date, e.g., FOXP2 and BCL11A. Building a knowledge base of the genetic etiology of CAS will make it possible to identify infants at genetic risk and motivate the development of effective very early intervention programs. We investigated the genetic etiology of CAS in two large multigenerational families with familial CAS. Complementary genomic methods included Markov chain Monte Carlo linkage analysis, copy-number analysis, identity-by-descent sharing, and exome sequencing with variant filtering. No overlaps in regions with positive evidence of linkage between the two families were found. In one family, linkage analysis detected two chromosomal regions of interest, 5p15.1-p14.1, and 17p13.1-q11.1, inherited separately from the two founders. Single-point linkage analysis of selected variants identified CDH18 as a primary gene of interest and additionally, MYO10, NIPBL, GLP2R, NCOR1, FLCN, SMCR8, NEK8, and ANKRD12, possibly with additive effects. Linkage analysis in the second family detected five regions with LOD scores approaching the highest values possible in the family. A gene of interest was C4orf21 (ZGRF1) on 4q25-q28.2. Evidence for previously described causal copy-number variations and validated or suspected genes was not found. Results are consistent with a heterogeneous CAS etiology, as is expected in many neurogenic disorders. Future studies will investigate genome variants in these and other families with CAS.

  4. A predictive model for diagnosing stroke-related apraxia of speech.

    Science.gov (United States)

    Ballard, Kirrie J; Azizi, Lamiae; Duffy, Joseph R; McNeil, Malcolm R; Halaki, Mark; O'Dwyer, Nicholas; Layfield, Claire; Scholl, Dominique I; Vogel, Adam P; Robin, Donald A

    2016-01-29

    Diagnosis of the speech motor planning/programming disorder, apraxia of speech (AOS), has proven challenging, largely due to its common co-occurrence with the language-based impairment of aphasia. Currently, diagnosis is based on perceptually identifying and rating the severity of several speech features. It is not known whether all, or a subset of the features, are required for a positive diagnosis. The purpose of this study was to assess predictor variables for the presence of AOS after left-hemisphere stroke, with the goal of increasing diagnostic objectivity and efficiency. This population-based case-control study involved a sample of 72 cases, using the outcome measure of expert judgment on presence of AOS and including a large number of independently collected candidate predictors representing behavioral measures of linguistic, cognitive, nonspeech oral motor, and speech motor ability. We constructed a predictive model using multiple imputation to deal with missing data; the Least Absolute Shrinkage and Selection Operator (Lasso) technique for variable selection to define the most relevant predictors, and bootstrapping to check the model stability and quantify the optimism of the developed model. Two measures were sufficient to distinguish between participants with AOS plus aphasia and those with aphasia alone, (1) a measure of speech errors with words of increasing length and (2) a measure of relative vowel duration in three-syllable words with weak-strong stress pattern (e.g., banana, potato). The model has high discriminative ability to distinguish between cases with and without AOS (c-index=0.93) and good agreement between observed and predicted probabilities (calibration slope=0.94). Some caution is warranted, given the relatively small sample specific to left-hemisphere stroke, and the limitations of imputing missing data. These two speech measures are straightforward to collect and analyse, facilitating use in research and clinical settings. Copyright

  5. Damage to the Left Precentral Gyrus Is Associated With Apraxia of Speech in Acute Stroke.

    Science.gov (United States)

    Itabashi, Ryo; Nishio, Yoshiyuki; Kataoka, Yuka; Yazawa, Yukako; Furui, Eisuke; Matsuda, Minoru; Mori, Etsuro

    2016-01-01

    Apraxia of speech (AOS) is a motor speech disorder, which is clinically characterized by the combination of phonemic segmental changes and articulatory distortions. AOS has been believed to arise from impairment in motor speech planning/programming and differentiated from both aphasia and dysarthria. The brain regions associated with AOS are still a matter of debate. The aim of this study was to address this issue in a large number of consecutive acute ischemic stroke patients. We retrospectively studied 136 patients with isolated nonlacunar infarcts in the left middle cerebral artery territory (70.5±12.9 years old, 79 males). In accordance with speech and language assessments, the patients were classified into the following groups: pure form of AOS (pure AOS), AOS with aphasia (AOS-aphasia), and without AOS (non-AOS). Voxel-based lesion-symptom mapping analysis was performed on T2-weighted images or fluid-attenuated inversion recovery images. Using the Liebermeister method, group-wise comparisons were made between the all AOS (pure AOS plus AOS-aphasia) and non-AOS, pure AOS and non-AOS, AOS-aphasia and non-AOS, and pure AOS and AOS-aphasia groups. Of the 136 patients, 22 patients were diagnosed with AOS (7 patients with pure AOS and 15 patients with AOS-aphasia). The voxel-based lesion-symptom mapping analysis demonstrated that the brain regions associated with AOS were centered on the left precentral gyrus. Damage to the left precentral gyrus is associated with AOS in acute to subacute stroke patients, suggesting a role of this brain region in motor speech production. © 2015 American Heart Association, Inc.

  6. Anosognosia for apraxia: experimental evidence for defective awareness of one's own bucco-facial gestures.

    Science.gov (United States)

    Canzano, Loredana; Scandola, Michele; Pernigo, Simone; Aglioti, Salvatore Maria; Moro, Valentina

    2014-12-01

    Anosognosia is a multifaceted, neuro-psychiatric syndrome characterized by defective awareness of a variety of perceptuo-motor, cognitive or emotional deficits. The syndrome is also characterized by modularity, i.e., deficits of awareness in one domain (e.g., spatial perception) co-existing with spared functions in another domain (e.g., memory). Anosognosia has mainly been reported after right hemisphere lesions. It is however somewhat surprising that no studies have thus far specifically explored the possibility that lack of awareness involves apraxia, i.e., a deficit in the ability to perform gestures caused by an impaired higher-order motor control and not by low-level motor deficits, sensory loss, or failure to comprehend simple commands. We explored this issue by testing fifteen patients with vascular lesions who were assigned to one of three groups depending on their neuropsychological profile and brain lesion. The patients were asked to execute various actions involving the upper limb or bucco-facial body parts. In addition they were also asked to judge the accuracy of these actions, either performed by them or by other individuals. The judgment of the patients was compared to that of two external observers. Results show that our bucco-facial apraxic patients manifest a specific deficit in detecting their own gestural errors. Moreover they were less aware of their defective performance in bucco-facial as compared to limb actions. Our results hint at the existence of a new form of anosognosia specifically involving apraxic deficits. Copyright © 2014 Elsevier Ltd. All rights reserved.

  7. Clinical and MRI models predicting amyloid deposition in progressive aphasia and apraxia of speech

    Directory of Open Access Journals (Sweden)

    Jennifer L. Whitwell

    2016-01-01

    Full Text Available Beta-amyloid (Aβ deposition can be observed in primary progressive aphasia (PPA and progressive apraxia of speech (PAOS. While it is typically associated with logopenic PPA, there are exceptions that make predicting Aβ status challenging based on clinical diagnosis alone. We aimed to determine whether MRI regional volumes or clinical data could help predict Aβ deposition. One hundred and thirty-nine PPA (n = 97; 15 agrammatic, 53 logopenic, 13 semantic and 16 unclassified and PAOS (n = 42 subjects were prospectively recruited into a cross-sectional study and underwent speech/language assessments, 3.0 T MRI and C11-Pittsburgh Compound B PET. The presence of Aβ was determined using a 1.5 SUVR cut-point. Atlas-based parcellation was used to calculate gray matter volumes of 42 regions-of-interest across the brain. Penalized binary logistic regression was utilized to determine what combination of MRI regions, and what combination of speech and language tests, best predicts Aβ (+ status. The optimal MRI model and optimal clinical model both performed comparably in their ability to accurately classify subjects according to Aβ status. MRI accurately classified 81% of subjects using 14 regions. Small left superior temporal and inferior parietal volumes and large left Broca's area volumes were particularly predictive of Aβ (+ status. Clinical scores accurately classified 83% of subjects using 12 tests. Phonological errors and repetition deficits, and absence of agrammatism and motor speech deficits were particularly predictive of Aβ (+ status. In comparison, clinical diagnosis was able to accurately classify 89% of subjects. However, the MRI model performed well in predicting Aβ deposition in unclassified PPA. Clinical diagnosis provides optimum prediction of Aβ status at the group level, although regional MRI measurements and speech and language testing also performed well and could have advantages in predicting Aβ status in unclassified

  8. 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.

  9. 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

  10. 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

  11. Congenital pyriform aperture stenosis

    International Nuclear Information System (INIS)

    Osovsky, Micky; Aizer-Danon, Anat; Horev, Gadi; Sirota, Lea

    2007-01-01

    Nasal airway obstruction is a potentially life-threatening condition in the newborn. Neonates are obligatory nasal breathers. The pyriform aperture is the narrowest, most anterior bony portion of the nasal airway, and a decrease in its cross-sectional area will significantly increase nasal airway resistance. Congenital nasal pyriform aperture stenosis (CNPAS) is a rare, unusual form of nasal obstruction. It should be considered in the differential diagnosis of any neonate or infant with signs and symptoms of upper airway compromise. It is important to differentiate this level of obstruction from the more common posterior choanal stenosis or atresia. CNPAS presents with symptoms of nasal airway obstruction, which are often characterized by episodic apnea and cyclical cyanosis. (orig.)

  12. Characterizing congenital amusia.

    Science.gov (United States)

    Stewart, Lauren

    2011-04-01

    The ability to make sense of the music in our environment involves sophisticated cognitive mechanisms that, for most people, are acquired effortlessly and in early life. A special population of individuals, with a disorder termed congenital amusia, report lifelong difficulties in this regard. Exploring the nature of this developmental disorder provides a window onto the cognitive architecture of typical musical processing, as well as allowing a study of the relationship between processing of music and other domains, such as language. The present article considers findings concerning pitch discrimination, pitch memory, contour processing, experiential aspects of music listening in amusia, and emerging evidence concerning the neurobiology of the disorder. A simplified model of melodic processing is outlined, and possible loci of the cognitive deficit are discussed.

  13. Neurobiology of Congenital Amusia.

    Science.gov (United States)

    Peretz, Isabelle

    2016-11-01

    The past decade of research has provided compelling evidence that musical engagement is a fundamental human trait, and its biological basis is increasingly scrutinized. In this endeavor, the detailed study of individuals who have musical deficiencies is instructive because of likely neurogenetic underpinnings. Such individuals have 'congenital amusia', an umbrella term for lifelong musical disabilities that cannot be attributed to intellectual disability, lack of exposure, or brain damage after birth. Key points are reviewed here that have emerged during recent years regarding the neurobiology of the disorder, focusing on the importance of recurrent processing between the right inferior frontal cortex and the auditory cortex for conscious monitoring of musical pitch, and how this relates to developmental cognitive disorders in general. Copyright © 2016 Elsevier Ltd. All rights reserved.

  14. Congenital sensorineural hearing loss

    International Nuclear Information System (INIS)

    Mafee, M.F.; Selis, J.E.; Yannias, D.A.; Valvassori, G.E.; Pruzansky, S.; Applebaum, E.L.; Capek, V.

    1984-01-01

    The ears of 47 selected patients with congenital sensorineural hearing loss were examined with complex-motion tomography. The patients were divided into 3 general categories: those with a recognized syndrome, those with sensorineural hearing loss unrelated to any known syndrome, and those with microtia. A great variety of inner ear anomalies was detected, but rarely were these characteristic of a particular clinical entity. The most common finding was the Mondini malformation or one of its variants. Isolated dysplasia of the internal auditory canal or the vestibular aqueduct may be responsible for sensorineural hearing loss in some patients. Patients with microtia may also have severe inner ear abnormalities despite the fact that the outer and inner ears develop embryologically from completely separate systems

  15. Congenital sensorineural hearing loss

    Energy Technology Data Exchange (ETDEWEB)

    Mafee, M.F.; Selis, J.E.; Yannias, D.A.; Valvassori, G.E.; Pruzansky, S.; Applebaum, E.L.; Capek, V.

    1984-02-01

    The ears of 47 selected patients with congenital sensorineural hearing loss were examined with complex-motion tomography. The patients were divided into 3 general categories: those with a recognized syndrome, those with sensorineural hearing loss unrelated to any known syndrome, and those with microtia. A great variety of inner ear anomalies was detected, but rarely were these characteristic of a particular clinical entity. The most common finding was the Mondini malformation or one of its variants. Isolated dysplasia of the internal auditory canal or the vestibular aqueduct may be responsible for sensorineural hearing loss in some patients. Patients with microtia may also have severe inner ear abnormalities despite the fact that the outer and inner ears develop embryologically from completely separate systems.

  16. [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.

  17. 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.

  18. [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.

  19. Congenital broncho-oesophageal fistula

    African Journals Online (AJOL)

    1983-04-09

    Apr 9, 1983 ... Rigid bronchoscopy performed under general anaesthesia .... Blackburn WR, Armour)' RA. Congenital esophago-pulmonary fistulas without esophageal atresia: an analysis of 260 fistulas in infants, children and adults.

  20. Congenital heart defect corrective surgeries

    Science.gov (United States)

    ... make it bigger with a patch made of Gore-tex, a man-made (synthetic) material. Another way ... 434. Bhatt AB, Foster E, Kuehl K, et al; American Heart Association Council on Clinical Cardiology. Congenital ...

  1. Congenital Heart Defects (For Parents)

    Science.gov (United States)

    ... to be associated with genetic disorders, such as Down syndrome . But the cause of most congenital heart defects isn't known. While they can't be prevented, many treatments are available for the defects and related health ...

  2. Genetics Home Reference: congenital hyperinsulinism

    Science.gov (United States)

    ... Topic: Hypoglycemia Health Topic: Metabolic Disorders Genetic and Rare Diseases Information Center (1 link) Congenital hyperinsulinism Educational Resources (7 links) Boston Children's Hospital: Hypoglycemia and Low Blood Sugar in Children Cook Children's Hospital (PDF) Disease InfoSearch: ...

  3. CHRNE Mutation and Congenital Myasthenia

    Directory of Open Access Journals (Sweden)

    J Gordon Millichap

    2009-01-01

    Full Text Available The CHRNE e1293insG mutation was identified in 14 (60% of 23 North African families with an early onset form of congenital myasthenic syndrome studied at centers in France, Tunisia, Algeria, and UK.

  4. 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.

  5. 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.

  6. 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

  7. Congenital Short QT Syndrome

    Directory of Open Access Journals (Sweden)

    Charles Antzelevitch

    2004-04-01

    Full Text Available Long QT intervals in the ECG have long been associated with sudden cardiac death. The congenital long QT syndrome was first described in individuals with structurally normal hearts in 1957.1 Little was known about the significance of a short QT interval. In 1993, after analyzing 6693 consecutive Holter recordings Algra et al concluded that an increased risk of sudden death was present not only in patients with long QT interval, but also in patients with short QT interval (<400 ms.2 Because this was a retrospective analysis, further evaluation of the data was not possible. It was not until 2000 that a short-QT syndrome (SQTS was proposed as a new inherited clinical syndrome by Gussak et al.3 The initial report was of two siblings and their mother all of whom displayed persistently short QT interval. The youngest was a 17 year old female presenting with several episodes of paroxysmal atrial fibrillation requiring electrical cardioversion.3 Her QT interval measured 280 msec at a heart rate of 69. Her 21 year old brother displayed a QT interval of 272 msec at a heart rate of 58, whereas the 51 year old mother showed a QT of 260 msec at a heart rate of 74. The authors also noted similar ECG findings in another unrelated 37 year old patient associated with sudden cardiac death.

  8. Congenital hypothyroidism in neonates

    Directory of Open Access Journals (Sweden)

    Aneela Anjum

    2014-01-01

    Full Text Available Context: Congenital hypothyroidism (CH is one of the most common preventable causes of mental retardation in children and it occurs in approximately 1:2,000-1:4,000 newborns. Aims and Objectives: The aim of this study is to determine the frequency of CH in neonates. Settings and Design: This cross-sectional study was conducted in neonatal units of the Department of Pediatrics Unit-I, King Edward Medical University/Mayo Hospital, Lahore and Lady Willington Hospital Lahore in 6 months (January-June 2011. Materials and Methods: Sample was collected by non-probability purposive sampling. After consent, 550 newborn were registered for the study. Demographic data and relevant history was recorded. After aseptic measures, 2-3 ml venous blood analyzed for thyroid-stimulating hormone (TSH level by immunoradiometric assay. Treatment was started according to the individual merit as per protocol. Statistical Analysis Used: Data was analyzed by SPSS 17 and Chi-square test was applied to find out the association of CH with different variables. Results: The study population consisted of 550 newborns. Among 550 newborns, 4 (0.8% newborns had elevated TSH level. CH had statistically significant association with mother′s hypothyroidism (P value 0.000 and mother′s drug intake during the pregnancy period (P value 0.013. Conclusion: CH is 0.8% in neonates. It has statistically significant association with mother′s hypothyroidism and mother′s drug intake during pregnancy.

  9. Congenital coronary artery fistula

    International Nuclear Information System (INIS)

    Oh, Yeon Hee; Kim, Hong; Zeon, Seoc Kil; Suh, Soo Jhi

    1986-01-01

    Congenital coronary artery fistula (CCAF) is communication of a coronary artery or its main branch with one of the atria or ventricles, the coronary sinus, the superior vena cava, or the pulmonary artery. In Korean peoples, only 4 cases of the CCAF were reported as rare as worldwide and authors want to report another case of CCAF, confirmed by operation. 10-year-old girl shows a fistula between sinus node artery of the right coronary artery and right atrium on root aortogram with left-to-right shunt and Qp/Qs=1.58, in which simple ligation of the sinus node artery from right coronary artery was performed. All of the 5 Korean CCAF (4 were previously reported and 1 of authors) were originated from right coronary artery, and of which 4 were opening into right ventricle and 1 of authors were into right atrium. Associated cardiac anomaly was noted in only 1 case as single coronary artery. Ages were from 9 months of age to 10 years old and no adult left case were found. 3 were female and 2 were male patients.

  10. Congenital nephrotic syndrome.

    Science.gov (United States)

    Hamed, Radi Ma

    2003-01-01

    The congenital nephrotic syndrome (CNS) is an uncommon disorder with onset of the nephrotic syndrome usually in the first three months of life. Several different diseases may cause the syndrome. These may be inherited, sporadic, acquired or part of a general malformation syndrome. The clinical course is marked by failure to thrive, recurrent life threatening bacterial infections, and early death from sepsis and/or uremia. A characteristic phenotype may be seen in children with CNS. The majority of reported cases of CNS are of the Finnish type (CNF). Although the role of the glomerular basement membrane has been emphasized as the barrier for retaining plasma proteins, recent studies have clearly shown that the slit diaphragm is the structure most likely to be the barrier in the glomerular capillary wall. The gene (NPHS1) was shown to encode a novel protein that was termed nephrin, due to its specific location in the kidney filter barrier, where it seems to form a highly organized filter structure. Nephrin is a transmembrane protein that probably forms the main building block of an isoporous zipper-like slit diaphragm filter structure. Defects in nephrin lead to the abnormal or absent slit diaphragm resulting in massive proteinuria and renal failure.

  11. [Penile congenital abnormalities].

    Science.gov (United States)

    Boillot, B; Teklali, Y; Moog, R; Droupy, S

    2013-07-01

    Congenital abnormalities of the penis are usually diagnosed at birth and pose aesthetic and functional problems sometimes requiring surgical management. A literature review was conducted on Medline considering the articles listed until January 2012. Hypospadias is the most common malformation (1 in 250 boys. Familial forms: 7%). The causes remain hypothetical but the doubling of the incidence in 30 years could be linked to fetal exposure to endocrine disruptors "estrogen-like" used in the food industry in particular. Surgical treatment is usually intended to improve the aesthetic appearance but sometimes, in case of significant curvature or posterior meatus, necessary for normal sexual life and fertility. Other malformations (epispades, buried penis, transpositions, twists and preputial abnormalities) as well as management for functional or aesthetic consequences of these malformations in adulthood require complex surgical care in a specialized environment. The improvement of surgical techniques and pediatric anesthesia allows an early and effective specialized surgical approach of penile malformations. Management of sequelae in adulthood must be discussed and requires experience of surgical techniques on pediatric and adult penis. Copyright © 2013 Elsevier Masson SAS. All rights reserved.

  12. Congenital cystic lung malformations

    International Nuclear Information System (INIS)

    Stoever, B.; Scheer, I.; Bassir, C.; Chaoui, R.; Henrich, W.; Schwabe, M.; Wauer, R.

    2006-01-01

    Purpose: The aim of the study concerning congenital cystic lung malformations was to evaluate prenatal diagnoses postnatally to determine prognostic factors as well as to define optimized perinatal management. Materials and Methods: The study is based on 45 prenatal ultrasound examinations depicting fetal cystic lung lesions. 32 of the mothers had follow-up examinations. 5 pregnancies were terminated due to CCAM and additional malformations. Complete regression of the lesions was seen prenatally in 8 cases and postnatally in 5 children. Results: Surgical intervention due to respiratory insufficiency was necessary in 4 neonates. According to the imaging results, CCAM was present in 4 cases and sequestration in 7 patients. No correlation between the imaging findings and the surgical results was found in 3 children: One child suffered from rhadomyoid dysplasia, and in the case of the second child, a left-sided hernia of the diaphragm and additional sequestration were detected. The third child showed AV malformation. The cystic lesions of the 14 children operated upon were proven histologically. The degree of accuracy in the present study was high. Conclusion: Precise perinatal management is warranted in order to determine according to the clinical relevance surgical intervention and to prevent complications after the first year of life. This is performed during the neonatal period for respiratory insufficient neonates and within the first year of life for clinically stable children. (orig.)

  13. Congenital pulmonary lymphangiectasia

    Directory of Open Access Journals (Sweden)

    Campisi Corradino

    2006-10-01

    Full Text Available Abstract Congenital pulmonary lymphangiectasia (PL is a rare developmental disorder involving the lung, and characterized by pulmonary subpleural, interlobar, perivascular and peribronchial lymphatic dilatation. The prevalence is unknown. PL presents at birth with severe respiratory distress, tachypnea and cyanosis, with a very high mortality rate at or within a few hours of birth. Most reported cases are sporadic and the etiology is not completely understood. It has been suggested that PL lymphatic channels of the fetal lung do not undergo the normal regression process at 20 weeks of gestation. Secondary PL may be caused by a cardiac lesion. The diagnostic approach includes complete family and obstetric history, conventional radiologic studies, ultrasound and magnetic resonance studies, lymphoscintigraphy, lung functionality tests, lung biopsy, bronchoscopy, and pleural effusion examination. During the prenatal period, all causes leading to hydrops fetalis should be considered in the diagnosis of PL. Fetal ultrasound evaluation plays a key role in the antenatal diagnosis of PL. At birth, mechanical ventilation and pleural drainage are nearly always necessary to obtain a favorable outcome of respiratory distress. Home supplemental oxygen therapy and symptomatic treatment of recurrent cough and wheeze are often necessary during childhood, sometimes associated with prolonged pleural drainage. Recent advances in intensive neonatal care have changed the previously nearly fatal outcome of PL at birth. Patients affected by PL who survive infancy, present medical problems which are characteristic of chronic lung disease.

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

    Science.gov (United States)

    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

    2013-10-02

    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 CAS. As part of a larger study of children and youth with motor speech sound disorders, 32 participants were classified as positive for CAS on the basis of a behavioral classification marker using auditory-perceptual and acoustic methods that quantify the competence, precision and stability of a speaker's speech, prosody and voice. WES of 10 randomly selected participants was completed using the Illumina Genome Analyzer IIx Sequencing System. Image analysis, base calling, demultiplexing, read mapping, and variant calling were performed using Illumina software. Software developed in-house was used for variant annotation, prioritization and interpretation to identify those variants likely to be deleterious to neurodevelopmental substrates of speech-language development. Among potentially deleterious variants, clinically reportable findings of interest occurred on a total of five chromosomes (Chr3, Chr6, Chr7, Chr9 and Chr17), which included six genes either strongly associated with CAS (FOXP1 and CNTNAP2) or associated with disorders with phenotypes overlapping CAS (ATP13A4, CNTNAP1, KIAA0319 and SETX). A total of 8 (80%) of the 10 participants had clinically reportable variants in one or two of the six genes, with variants in ATP13A4, KIAA0319 and CNTNAP2 being the most prevalent. Similar to the results reported in emerging WES studies of other complex neurodevelopmental disorders, our findings from this first WES study of CAS are interpreted as support for heterogeneous genetic origins of

  15. Apraxia, Autism, Attention-Deficit Hyperactivity Disorder: Do We Have a New Spectrum?

    Science.gov (United States)

    Schumacher, Jayna; Strand, Kristine E; Augustyn, Marilyn

    Gio is a bilingual 6-year 10-month-old boy new to your practice who presents for an unscheduled visit with concerns for speech and language delay. He was born in Portugal, and his native language is Portuguese. When he was 21 months old, his family moved to Italy and then moved to the United States 3 years later. He had very little contact with other children while living in Italy, but his parents report that he has made friends quickly in the United States. His family speaks Portuguese at home, although his father is fluent in English.He started school 3 months after moving to the United States and is currently repeating kindergarten. He is in a sheltered English classroom with several other students who speak Portuguese. He is able to understand and follow directions in English. A recent school evaluation revealed solidly average nonverbal reasoning skills and relative weaknesses in verbal reasoning and working memory. His speech is described as unintelligible in conversation, both in English and Portuguese.Results of a special education evaluation qualified him for services with a bilingual therapist. His teachers are very concerned that he may have autism spectrum disorder (ASD) and attention-deficit hyperactivity disorder (ADHD). They describe him as having limited interest in other children, poor eye contact, and hypersensitivities. He wanders at recess. He is very skilled at art and seems to prefer to draw rather than interact with others. He needs constant support and redirection throughout the school day. He has difficulty putting on his coat, using playground equipment, and following daily classroom routines. On the Vanderbilt Rating Scale, his teacher endorses 17 of 18 ADHD symptoms as present often or very often and significant impairment in his performance.Gio presents to your clinic as a relatable young boy with childhood apraxia of speech. Only his productions of single words and short routine phrases are intelligible. He attempts to engage in

  16. [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.

  17. Cyanotic congenital heart disease

    Energy Technology Data Exchange (ETDEWEB)

    Yeon, Kyung Mo; Yoo, Shi Joon; Han, Man Chung; Hong, Chang Yee; Lee, Yung Kyoon [Seoul National University College of Medicine, Seoul (Korea, Republic of)

    1979-12-15

    Authors analyzed 265 cases of cyanotic congenital heart disease in which cardiac catheterization and angiocardiography were done at the Department of Radiology, Seoul National University Hospital between April 1973 and August 1979. The results are as follows; 1. Among 265 cases, 178 patients were male and 87 patients were female. 240 patients were below the age of 20 and none was over 35 year. 2. The incidence of individual lesions are as follows: tetralogy of Fallot-176; double outlet right ventricle-20; pentalogy-12; trilogy-11; corrected transposition of great arteries-10; complete transposition of great arteries-8; pulmonary atresia-7; single ventricle-6; Ebstein's anomaly-5; total anomalous pulmonary venous return-4; tricuspid atresia-3; double outlet left ventricle-1; truncus arteriosus-1; hypoplastic left ventricle-1. 3. Fallot's teralogy, pentalogy and trilogy were characteristic in their simple chest and angiocardiographic manifestations, but in a few cases of tetralogy and pentalogy it was difficult to differentiate them from double outlet right ventricle or pulmonary atresia. 4. In double outlet right ventricle and transposition of great arteries which are the pathologic spectrum resulting from abnormal conal growth, differential points were ventricular and great arterial loop patterns and their connections but it was very difficult to differentiate them from each other by single injection into one ventricle alone. 5. Ebstein's anomaly and total anomalous pulmonary venous return were so characteristic in angiocardiography was done ventriculography alone. 6. In 7 cases with double outlet right ventricle and transposition of great arteries, selective biventriculography was done and more accurate diagnosis could be made, which was quite difficult with one ventriculography alone. In 31 cases, cineangiocardiography was done and it gave more accurate information about the type and degree of pulmonary stenosis and overriding of aorta, the origin

  18. Cyanotic congenital heart disease

    International Nuclear Information System (INIS)

    Yeon, Kyung Mo; Yoo, Shi Joon; Han, Man Chung; Hong, Chang Yee; Lee, Yung Kyoon

    1979-01-01

    Authors analyzed 265 cases of cyanotic congenital heart disease in which cardiac catheterization and angiocardiography were done at the Department of Radiology, Seoul National University Hospital between April 1973 and August 1979. The results are as follows; 1. Among 265 cases, 178 patients were male and 87 patients were female. 240 patients were below the age of 20 and none was over 35 year. 2. The incidence of individual lesions are as follows: tetralogy of Fallot-176; double outlet right ventricle-20; pentalogy-12; trilogy-11; corrected transposition of great arteries-10; complete transposition of great arteries-8; pulmonary atresia-7; single ventricle-6; Ebstein's anomaly-5; total anomalous pulmonary venous return-4; tricuspid atresia-3; double outlet left ventricle-1; truncus arteriosus-1; hypoplastic left ventricle-1. 3. Fallot's teralogy, pentalogy and trilogy were characteristic in their simple chest and angiocardiographic manifestations, but in a few cases of tetralogy and pentalogy it was difficult to differentiate them from double outlet right ventricle or pulmonary atresia. 4. In double outlet right ventricle and transposition of great arteries which are the pathologic spectrum resulting from abnormal conal growth, differential points were ventricular and great arterial loop patterns and their connections but it was very difficult to differentiate them from each other by single injection into one ventricle alone. 5. Ebstein's anomaly and total anomalous pulmonary venous return were so characteristic in angiocardiography was done ventriculography alone. 6. In 7 cases with double outlet right ventricle and transposition of great arteries, selective biventriculography was done and more accurate diagnosis could be made, which was quite difficult with one ventriculography alone. In 31 cases, cineangiocardiography was done and it gave more accurate information about the type and degree of pulmonary stenosis and overriding of aorta, the origin of great

  19. 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.

  20. 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.