Ultrasonic Vocalization Changes and FOXP2 expression after Experimental Stroke.
This study demonstrates that quantifiable deficits in ultrasonic vocalizations (USVs) are seen after stroke. USV may be a useful tool to assess chronic behavioral recovery in murine models of stroke.
PMID: 25644653 [PubMed - as supplied by publisher] (Source: Behavioural Brain Research)
Source: Behavioural Brain Research - January 30, 2015 Category: Neurology Authors: Doran SJ, Trammel C, Benashaski SE, Venna VR, McCullough LD Tags: Behav Brain Res Source Type: research
Features of migraine aura in teenagers
Conclusions
Aura symptoms vary to a great extent in complexity in teenage migraineurs. Consequently, results obtained in this study provide useful information for clinicians when faced with unusual migraine aura. (Source: The Journal of Headache and Pain)
Source: The Journal of Headache and Pain - December 12, 2014 Category: Neurology Source Type: research
A SOX3 (Xq26.3-27.3) duplication in a boy with growth hormone deficiency, ocular dyspraxia, and intellectual disability: A long-term follow-up and literature review.
CONCLUSIONS: SOX3 involvement should be considered in a male with short stature due to GH deficiency associated with intellectual disability.
PMID: 25402377 [PubMed - as supplied by publisher] (Source: Hormones)
Source: Hormones - December 2, 2014 Category: Endocrinology Tags: Hormones (Athens) Source Type: research
[Cerebellar gangliocytoma in an 11-year-old child].
We report a case of a young 11-year-old patient who presented with a gangliocytoma of the cerebellum revealed by neurologic manifestations (headache, dyspraxia, equilibrium and gait disturbances). Diagnosis was made on surgical material. Tumour was characterized by dysplastic mature ganglion cells, perivascular lymphocytic infiltrates and no glial neoplastic component. By immunohistochemistry, ganglion cells expressed neurofilaments, MAP2 protein, synaptophysin, chromogranin A and S100 protein. BRAF V600E mutation was absent. Clinical characteristics, radiology, histopathology of the two main diagnoses are discussed.
...
Source: Annales de Pathologie - December 1, 2014 Category: Pathology Authors: Joly M, Valmary-Degano S, Cattin F, Vasiljevic A, Jouvet A, Viennet G Tags: Ann Pathol Source Type: research
PLA2G6-associated neurodegeneration (PLAN): Further expansion of the clinical, radiological and mutation spectrum associated with infantile and atypical childhood-onset disease
We describe the clinical phenotypes, neuroimaging features and PLA2G6 mutations in 5 children, of whom 4 presented with infantile neuroaxonal dystrophy (INAD). One other patient was diagnosed with the onset of PLAN in childhood, and our report highlights the diagnostic challenges associated with this atypical PLAN subtype. In this series, the neuroradiological relevance of classical PLAN features as well as apparent claval hypertrophy’ is explored. Novel PLA2G6 mutations were identified in all patients. PLAN should be considered not only in patients presenting with a classic INAD phenotype but also in older patients pres...
Source: Molecular Genetics and Metabolism - November 26, 2014 Category: Genetics & Stem Cells Source Type: research
Neuropsychological profiles of patients with 2q37.3 deletion associated with developmental dyspraxia
Patients with 2q37 deletions manifest brachydactyly mental retardation syndrome (BDMR). Recent advances in human molecular research have revealed that alterations in the histone deacetylase 4 gene (HDAC4) are responsible for the clinical manifestations of BDMR. Here, we report two male patients with 2q37.3 deletions. One of the patients showed a typical BDMR phenotype, and HDAC4 was included in the deletion region. HDAC4 was preserved in the other patient, and he showed a normal intelligence level with the delayed learning of complex motor skills. Detailed neuropsychological examinations revealed similar neuropsychological...
Source: American Journal of Medical Genetics Part B: Neuropsychiatric Genetics - October 1, 2014 Category: Genetics & Stem Cells Authors: Kaeko Ogura, Kenzo Takeshita, Chikako Arakawa, Keiko Shimojima, Toshiyuki Yamamoto Tags: Research Article Source Type: research
Speech-language pathologists' practices regarding assessment, analysis, target selection, intervention, and service delivery for children with speech sound disorders.
Abstract
Abstract A survey of 231 Australian speech-language pathologists (SLPs) was undertaken to describe practices regarding assessment, analysis, target selection, intervention, and service delivery for children with speech sound disorders (SSD). The participants typically worked in private practice, education, or community health settings and 67.6% had a waiting list for services. For each child, most of the SLPs spent 10-40 min in pre-assessment activities, 30-60 min undertaking face-to-face assessments, and 30-60 min completing paperwork after assessments. During an assessment SLPs typically conduct...
Source: Clinical Linguistics and Phonetics - July 1, 2014 Category: Speech Therapy Authors: Mcleod S, Baker E Tags: Clin Linguist Phon Source Type: research
[Cerebellar cognitive affective syndrome secondary to a cerebellar tumour.]
Abstract
Cerebellar cognitive affective syndrome is characterized by disturbances of executive function, impaired spatial cognition, linguistic difficulties, and personality change. The case of an 11year old boy is presented, with behavior problems, learning difficulties and social interaction problems. In the physical examination he had poor visual contact, immature behavior, reduced expressive language and global motor disability with gait dyspraxia, with no defined cerebellar motor signs. In the neuropsychological evaluation he has a full scale overall intellectual quotient of 84, with signs of cerebell...
Source: Anales de Pediatria - June 18, 2014 Category: Pediatrics Authors: Domínguez-Carral J, Carreras-Sáez I, García-Peñas JJ, Fournier-Del Castillo C, Villalobos-Reales J Tags: An Pediatr (Barc) Source Type: research
De Novo microdeletion of BCL11A is associated with severe speech sound disorder
In 10 cases of 2p15p16.1 microdeletions reported worldwide to date, shared phenotypes included growth retardation, craniofacial and skeletal dysmorphic traits, internal organ defects, intellectual disability, nonverbal or low verbal status, abnormal muscle tone, and gross motor delays. The size of the deletions ranged from 0.3 to 5.7 Mb, where the smallest deletion involved the BCL11A, PAPOLG, and REL genes. Here we report on an 11‐year‐old male with a heterozygous de novo 0.2 Mb deletion containing a single gene, BCL11A, and a phenotype characterized by childhood apraxia of speech and dysarthria in the presence of...
Source: American Journal of Medical Genetics Part A - May 8, 2014 Category: Genetics & Stem Cells Authors: Beate Peter, Mark Matsushita, Kaori Oda, Wendy Raskind Tags: Clinical Report Source Type: research
A study of the role of the FOXP2 and CNTNAP2 genes in persistent developmental stuttering.
This study provides an improved estimate of the contribution of mutations in the GNPTAB, GNPTG and NAGPA to persistent stuttering, and suggests that variants in the FOXP2 and CNTNAP2 are not involved in the genesis of familial persistent stuttering. This, together with the different brain expression patterns of GNPTAB, GNPTG, and NAGPA compared to that of FOXP2 and CNTNAP2, suggests that the genetic neuropathological origins of stuttering differ from those of verbal dyspraxia and SLI.
PMID: 24807205 [PubMed - as supplied by publisher] (Source: Neurobiology of Disease)
Source: Neurobiology of Disease - May 4, 2014 Category: Neurology Authors: Han TU, Park J, Domingues CF, Moretti-Ferreira D, Paris E, Sainz E, Guiterrez J, Drayna D Tags: Neurobiol Dis Source Type: research
Dyslexia, dyspraxia, and ADHD in adults: what you need to know.
PMID: 24771831 [PubMed - in process] (Source: The British Journal of General Practice)
Source: The British Journal of General Practice - May 1, 2014 Category: Primary Care Authors: Moody S Tags: Br J Gen Pract Source Type: research
Microduplication 10q24.31 in a Spanish girl with scoliosis and myopathy: The critical role of LBX
LBX1 plays a cardinal role in neuronal and muscular development in animal models. Its function in humans is unknown; it has been reported as a candidate gene for idiopathic scoliosis. Our goal is to document the first clinical case of a microduplication at 10q24.31 (chr10:102927883‐103053612, hg19), affecting exclusively LBX1. The patient, a 12‐year‐old girl, showed attention problems, dyspraxia, idiopathic congenital scoliosis, and marked hypotrophy of paravertebral muscles. Her paternal aunt had a severe and progressive myopathy with a genetic study that revealed the same duplication. We propose to consider genetic...
Source: American Journal of Medical Genetics Part A - April 29, 2014 Category: Genetics & Stem Cells Authors: Alberto Fernández‐Jaén, Javier Suela, Daniel Martín Fernández‐Mayoralas, Ana Laura Fernández‐Perrone, Karl R. Wotton, Susanne Dietrich, Maria del Carmen Castellanos, Juan C. Cigudosa, Beatriz Calleja‐Pérez, Sara López‐Martín Tags: Clinical Report Source Type: research
Dyspraxia, Motor Function and Visual-Motor Integration in Autism.
We examined the association of specific underlying motor function including eye movement with ideational dyspraxia (sequences of skilled movements) as well as the possible role of visual-motor integration in dyspraxia. We found that compared to IQ-, sex- and age-matched typically developing children, the children with autism performed significantly worse on: Ideational and Buccofacial praxis; a broad range of motor tests, including measures of simple motor skill, timing and accuracy of saccadic eye movements and motor coordination; and tests of visual-motor integration. Impairments in individual children with autism were h...
Source: Behavioural Brain Research - April 14, 2014 Category: Neurology Authors: Miller M, Chukoskie L, Zinni M, Townsend J, Trauner D Tags: Behav Brain Res Source Type: research
Neurological Examination Findings in Autistic Adults (P2.176)
CONCLUSIONS: Traditional atypical neurological exam findings are exhibited in adulthood in the majority of autistic adults, with atypical speech/language and atypical gaze patterns present in approximately half of the subjects in this sample. Additional neurological exam findings were identified in the majority of subjects, with approximately a third of subjects exhibiting findings of atypical hand posturing, autonomic features or tremor. The atypical hand posturing may represent a subtle manifestation of abnormal tone or an evolution of more traditional repetitive movements. These additional findings offer additional oppo...
Source: Neurology - April 9, 2014 Category: Neurology Authors: Woodruff, B., Hentz, J., Duffy, A., Pollard, E., Smith, C., Geda, Y. Tags: Aging, Dementia, and Cognitive and Behavioral Neurology: General Cognition Source Type: research
Expanding the phenotypic profile of boys with 47, XXY: The impact of familial learning disabilities
The aim of the study was to examine the impact of familial learning disabilities (FLD) on the phenotypic profile of 47, XXY males and the possibility that 47, XXY males with more severe cognitive deficits may be partially a consequence of familial dyslexia/reading disorder. We wondered if FLD could pose an additional risk for complex neurodevelopmental differences in 47, XXY. The neurodevelopmental profile of males with 47, XXY has been characterized by developmental dyspraxia, language‐based learning disorders, executive dysfunction, reading, and attentional deficits. One hundred eighteen boys with 47, XXY diagnosed pre...
Source: American Journal of Medical Genetics Part A - April 1, 2014 Category: Genetics & Stem Cells Authors: Carole A. Samango‐Sprouse, Emily J. Stapleton, Francie L. Mitchell, Teresa Sadeghin, Thomas P. Donahue, Andrea L. Gropman Tags: Research Article Source Type: research
