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Pediatric apraxia

Özge İpek, Özge Akyolcu, Banu Bayar
Objective: Joubert syndrome (JS) is a rare autosomal recessive genetic disorder characterized by brain malformation, hypotonia, breathing abnormalities, ataxia, oculomotor apraxia, and developmental delay. The purpose of this study was to report the efficiency of the physiotherapy and rehabilitation program in a child with JS. Materials and Methods: Our case is a 19-month-old female child with mild clinical signs of JS. The pretreatment and posttreatment motor functioning level of the case was evaluated through the Gross Motor Function Measure (GMFM), whereas the independence level was evaluated through the Pediatric Functional Independence Measure (WeeFIM)...
2017: Case Reports in Pediatrics
Lawrence D Shriberg, Edythe A Strand, Marios Fourakis, Kathy J Jakielski, Sheryl D Hall, Heather B Karlsson, Heather L Mabie, Jane L McSweeny, Christie M Tilkens, David L Wilson
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 neurogenetic CAS, adult-onset apraxia of speech and primary progressive apraxia of speech, and idiopathic speech delay. Results: Adjusted for questionable specificity disagreements with a pediatric Mayo Clinic diagnostic standard, the estimated sensitivity and specificity, respectively, of the PM were 86...
April 14, 2017: Journal of Speech, Language, and Hearing Research: JSLHR
Parvaneh Karimzadeh, Simin Khayatzadeh Kakhki, Shaghayegh Sadat Esmail Nejad, Masood Houshmand, Mohammad Ghofrani
Although AOA1 (ataxia oculomotor apraxia1) is one of the most common causes of autosomal recessive cerebellar ataxias in Japanese population, it is reported from all over the world. The clinical manifestations are similar to ataxia telangiectasia in which non-neurological manifestations are absent and include almost 10% of autosomal recessive cerebellar ataxias. Dysarthria and gait disorder are the most two common and typical manifestations. Oculomotor apraxia is usually seen a few years after the manifestations start...
2017: Iranian Journal of Child Neurology
Swetha Sara Philip, Sunithi Elizabeth Mani, Gordon N Dutton
Balint's syndrome is well described in adults, but not in children. It is caused by bilateral posterior parietal lobe damage and comprises a triad of simultanagnosia (inability to simultaneously see more than a small number of items), optic ataxia (impaired visual guidance of movement of the limbs and body), and apraxia of gaze (inability to volitionally direct gaze despite the requisite motor substrate) often associated with homonymous lower visual field loss. We, here, describe five children (four males, one female; mean age 7...
2016: Case Reports in Ophthalmological Medicine
Zoltan Patay
BACKGROUND: Posterior fossa syndrome (PFS) is a severe, postoperative complication occurring in about 25 % of pediatric patients undergoing surgery for midline tumors in the posterior fossa. In recent years, MRI-based research elucidated the cause of PFS and shed new light on its putative pathophysiology. This review highlights the major advances arising from research of this topic. RESULTS: Postsurgical damage patterns in patients after posterior fossa surgery show that PFS results from bilateral surgical damage to the proximal efferent cerebellar pathways (pECPs)...
October 2015: Child's Nervous System: ChNS: Official Journal of the International Society for Pediatric Neurosurgery
T M Centanni, J N Sanmann, J R Green, J Iuzzini-Seigel, C Bartlett, W G Sanger, T P Hogan
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...
October 2015: American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics
Elizabeth A Worthey, Gordana Raca, Jennifer J Laffin, Brandon M Wilk, Jeremy M Harris, Kathy J Jakielski, David P Dimmock, Edythe A Strand, Lawrence D Shriberg
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 CAS...
2013: Journal of Neurodevelopmental Disorders
Andrea Poretti, Martin Häusler, Arpad von Moers, Bastian Baumgartner, Klaus Zerres, Andrea Klein, Chiara Aiello, Francesca Moro, Ginevra Zanni, Filippo M Santorelli, Thierry A G M Huisman, Joachim Weis, Enza Maria Valente, Enrico Bertini, Eugen Boltshauser
Cerebellar cysts are rare findings in pediatric neuroimaging and rather characteristic for dystroglycanopathies and GPR56-related encephalopathy. We aim to report on seven children with cerebellar cysts showing absence of weakness and ruling out mutations within eight dystroglycanopathy genes and GPR56. Data about neurological and ophthalmological features, outcome, and creatine kinase values were collected from clinical histories and follow-up examinations. All MR images were qualitatively evaluated for infra- and supratentorial abnormalities...
February 2014: Cerebellum
A Arents, A Berger Martinet, S Blanc, F Niessen
Orthoptic and ophthalmologic consultation is an essential step in the diagnosis and treatment of learning disorders, particularly in children with dyspraxia. Such a specialized consultation allows identification of cognitive visual disorders, especially oculomotor or visual-spatial impairment, which disrupt the cognitive processes involved in key academic tasks such as reading or handwriting. It is therefore essential to screen and manage these disorders early in order to implement a rehabilitation plan and counsel educators so as to facilitate learning...
November 2012: Journal Français D'ophtalmologie
Gordana Raca, Becky S Baas, Salman Kirmani, Jennifer J Laffin, Craig A Jackson, Edythe A Strand, Kathy J Jakielski, Lawrence D Shriberg
We report clinical findings that extend the phenotype of the ~550 kb 16p11.2 microdeletion syndrome to include a rare, severe, and persistent pediatric speech sound disorder termed Childhood Apraxia of Speech (CAS). CAS is the speech disorder identified in a multigenerational pedigree ('KE') in which half of the members have a mutation in FOXP2 that co-segregates with CAS, oromotor apraxia, and low scores on a nonword repetition task. Each of the two patients in the current report completed a 2-h assessment protocol that provided information on their cognitive, language, speech, oral mechanism, motor, and developmental histories and performance...
April 2013: European Journal of Human Genetics: EJHG
Dana L Ellis, Julie Kanter, John W Walsh, Stacy S Drury
Posterior fossa syndrome, characterized by oromotor or oculomotor apraxia, emotional lability, and mutism, occurs in some children after infratentorial tumor resection, and is thought to involve injury to the dentatothalamocortical tract. Previous cases of posterior fossa syndrome involved pediatric patients with cerebellar and other posterior fossa tumors. To heighten awareness that posterior fossa syndrome can occur after resections of tumors in other neuroanatomic locations, we present a 16-year-old boy who developed this syndrome after surgical removal of a supratentorial pinealoma, and we include a discussion of his self-reported signs...
December 2011: Pediatric Neurology
Takashi Kageyama, Yoko Gotoh, Fumie Sano, Takeo Katoh, Mituhiko Nambu, Tsutomu Okada, Toshihiko Suenaga
We report a case of tumefactive demyelinating lesion (TDL) diagnosed using (1)H-magnetic resonance spectroscopy (¹H-MRS) and conventional magnetic resonance imaging (MRI). A 7-year-old girl was admitted to our hospital with complaints of sleepiness and clumsiness of the right limbs. Neurological examination showed somnolence, right-sided apraxia, and hemiparesis with enhanced tendon reflexes and Babinski sign. Conventional brain MRI revealed extensive hyperintensity in the subcortical white matter of the left frontal lobe in both T₂ weighted and fluid attenuated inversion recovery images...
September 2011: Rinshō Shinkeigaku, Clinical Neurology
Renée Lampe, Jürgen Mitternacht
The field of neuroorthopedics centers on chronic diseases demanding close clinical monitoring. We shall use several examples to show how the various noninvasive diagnostic instruments can be used to obtain insight into the central nervous system as well as into the musculoskeletal system and its morphology. The choice of the most appropriate method depends on the problem; that is, whether the method is to be applied for clinical use or for basic research. In this report we introduce various technical examination methods that are being used successfully in the fields of pediatrics, orthopedics, and neurology...
October 10, 2009: Orthopedic Reviews
Je Young Yeon, Hyung Jin Shin, Jong-Soo Kim, Seung-Chyul Hong, Jung-Il Lee
PURPOSE: The aim of this study was to evaluate clinico-radiological outcomes following gamma knife radiosurgery (GKS) for pediatric arteriovenous malformations (AVMs). METHODS: The present series included 39 children (3-17 years of age) who underwent GKS for cerebral AVMs between January 2002 and February 2008. Twenty-five patients presented with hemorrhages. The median AVM volume was 1.5 cm³, and the median marginal dose was 20 Gy. All patients continued to have follow-up for more than 24 months with serial magnetic resonance images (MRIs)/angiograms...
July 2011: Child's Nervous System: ChNS: Official Journal of the International Society for Pediatric Neurosurgery
L Damaj, B Bruneau, M Ferry, M-L Moutard, C Garel, S Odent, C Adamsbaum, F Avni, C Tréguier, L Lazaro
BACKGROUND: Isolated Septal Agenesis (SA) is a rare disease with clinical outcomes (especially neurological outcomes) that are unknown. The purpose of this study was to evaluate the clinical outcome of these children. METHODS: We conducted a retrospective multicenter study of 17 children with an isolated SA or SA combined with a moderate ventricular dilatation (VD) that was diagnosed antenatally and confirmed by a magnetic resonance imaging (MRI) performed in the antenatal period...
December 2010: Prenatal Diagnosis
Amy J Newmeyer, Christa Aylward, Rachel Akers, Keiko Ishikawa, Sandra Grether, Ton deGrauw, Carol Grasha, Jaye White
Speech-sound disorders are common in preschool-age children, and are characterized by difficulty in the planning and production of speech sounds and their combination into words and sentences. The objective of this study was to review and compare the results of the Sensory Profile (Dunn, 1999) in children with a specific type of speech-sound disorder, childhood apraxia of speech (CAS), and to explore the relationship between sensory processing and sound-production deficits. Participants were identified prospectively through an interdisciplinary apraxia clinic at a tertiary care pediatric hospital, and results of the Sensory Profile were compiled and reviewed...
2009: Physical & Occupational Therapy in Pediatrics
V Udani, P Munot, M Ursekar, S Gupta
OBJECTIVES: To study the etiology of remote symptomatic epilepsy with onset in the first 3 years of life. Patients with neonatal hypoglycemic brain injury (NHBI), were further studied for risk factors and clinical features. METHODS: The study was conducted at a tertiary pediatric neurology service between May-August 2004. Consecutive patients were recruited prospectively. The probable etiological diagnoses were based primarily on cranial imaging. Two radiologists, blinded to the etiological diagnosis, reviewed the cranial imaging and suggested the likely etiology based on published imaging criteria...
February 2009: Indian Pediatrics
Cyril Gitiaux, Emmanuel Roze, Kiyoka Kinugawa, Constance Flamand-Rouvière, Nathalie Boddaert, Emmanuelle Apartis, Vassili Valayannopoulos, Guy Touati, Jacques Motte, David Devos, Karine Mention, Dries Dobbelaere, Diana Rodriguez, Agathe Roubertie, Brigitte Chabrol, François Feillet, Marie Vidailhet, Nadia Bahi-Buisson
Glutaric aciduria type 1 (GA1) is an autosomal recessive neurometabolic disorder due to glutaryl CoA dehydrogenase deficiency. Comprehensive descriptions of GA1-associated movement disorders are rare. In order to refine the description of the motor phenotype, we prospectively studied 16 consecutive pediatric and adult GA1 patients, focusing on the movement disorders and their time course. In most patients, generalized dystonia, superimposed on baseline axial hypotonia, remained the predominant feature throughout the disease course...
December 15, 2008: Movement Disorders: Official Journal of the Movement Disorder Society
S Gonçalves Carrasquinho, S Teixeira, A Cadete, M Bernardo, P Pêgo, I Prieto
PURPOSE: Congenital ocular motor apraxia is a rare disease characterized by defective or absent voluntary and optically induced horizontal saccadic movements. Jerky head movements or thrusts on attempted lateral gaze are a compensatory sign. Most affected children have delayed motor and speech development. Cases associated with systemic diseases, neurologic maldevelopment, metabolic deficits, and chromosomal abnormalities have been described. METHODS: Case report and review of the scientific literature...
March 2008: European Journal of Ophthalmology
Rebecca J McCauley, Edythe A Strand
PURPOSE: To review the content and psychometric characteristics of 6 published tests currently available to aid in the study, diagnosis, and treatment of motor speech disorders in children. METHOD: We compared the content of the 6 tests and critically evaluated the degree to which important psychometric characteristics support the tests' use for their defined purposes. RESULTS: The tests varied considerably in content and methods of test interpretation...
February 2008: American Journal of Speech-language Pathology
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