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Verbal dyspraxia

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https://www.readbyqxmd.com/read/26833960/expanding-the-phenotypic-profile-of-kleefstra-syndrome-a-female-with-low-average-intelligence-and-childhood-apraxia-of-speech
#1
Carole Samango-Sprouse, Patrick Lawson, Courtney Sprouse, Emily Stapleton, Teresa Sadeghin, Andrea Gropman
Kleefstra syndrome (KS) is a rare neurogenetic disorder most commonly caused by deletion in the 9q34.3 chromosomal region and is associated with intellectual disabilities, severe speech delay, and motor planning deficits. To our knowledge, this is the first patient (PQ, a 6-year-old female) with a 9q34.3 deletion who has near normal intelligence, and developmental dyspraxia with childhood apraxia of speech (CAS). At 6, the Wechsler Preschool and Primary Intelligence testing (WPPSI-III) revealed a Verbal IQ of 81 and Performance IQ of 79...
May 2016: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/26763621/study-of-clinical-characteristics-in-young-subjects-with-developmental-coordination-disorder
#2
Marie Farmer, Bernard Echenne, M'hamed Bentourkia
BACKGROUND: Developmental Coordination Disorder (DCD) is a chronic neurological disorder observed in children. DCD is characterized by slowness in activities and motor impairment that affects the children's daily living and academic achievements, and later their professional and social behavior. Our aim in this work was to report characteristics frequencies in a group of children with DCD and to propose a subtyping of DCD characteristics. METHODS: Thirty three clinical DCD characteristics, the mostly reported in the literature, were assessed in 129 patients, boys and girls aged from 4years to 18years, and their subtyping was proposed...
June 2016: Brain & Development
https://www.readbyqxmd.com/read/26171070/a-13-year-follow-up-of-finnish-patients-with-salla-disease
#3
Liisa E Paavola, Anne M Remes, Marika J Harila, Tarja T Varho, Tapio T Korhonen, Kari Majamaa
BACKGROUND: Salla disease (SD) is a rare lysosomal storage disorder leading to severe intellectual disability. SD belongs to the Finnish disease heritage, and it is caused by mutations in the SLC17A5 gene. The aim of the study was to investigate the course of neurocognitive features of SD patients in a long-term follow-up. METHODS: Neuropsychological and neurological investigations were carried out on 24 SD patients, aged 16-65 years, 13 years after a similar examination...
2015: Journal of Neurodevelopmental Disorders
https://www.readbyqxmd.com/read/26052371/recent-advances-in-the-genetics-of-vocal-learning
#4
Michael C Condro, Stephanie A White
Language is a complex communicative behavior unique to humans, and its genetic basis is poorly understood. Genes associated with human speech and language disorders provide some insights, originating with the FOXP2 transcription factor, a mutation in which is the source of an inherited form of developmental verbal dyspraxia. Subsequently, targets of FOXP2 regulation have been associated with speech and language disorders, along with other genes. Here, we review these recent findings that implicate genetic factors in human speech...
2014: Comparative Cognition & Behavior Reviews
https://www.readbyqxmd.com/read/25644653/ultrasonic-vocalization-changes-and-foxp2-expression-after-experimental-stroke
#5
Sarah J Doran, Cassandra Trammel, Sharon E Benashaski, Venugopal Reddy Venna, Louise D McCullough
Speech impairments affect one in four stroke survivors. However, animal models of post-ischemic vocalization deficits are limited. Male mice vocalize at ultrasonic frequencies when exposed to an estrous female mouse. In this study we assessed vocalization patterns and quantity in male mice after cerebral ischemia. FOXP2, a gene associated with verbal dyspraxia in humans, with known roles in neurogenesis and synaptic plasticity, was also examined after injury. Using a transient middle cerebral artery occlusion (MCAO) model, we assessed correlates of vocal impairment at several time-points after stroke...
April 15, 2015: Behavioural Brain Research
https://www.readbyqxmd.com/read/25422445/monoallelic-expression-of-the-human-foxp2-speech-gene
#6
Abidemi A Adegbola, Gerald F Cox, Elizabeth M Bradshaw, David A Hafler, Alexander Gimelbrant, Andrew Chess
The recent descriptions of widespread random monoallelic expression (RMAE) of genes distributed throughout the autosomal genome indicate that there are more genes subject to RMAE on autosomes than the number of genes on the X chromosome where X-inactivation dictates RMAE of X-linked genes. Several of the autosomal genes that undergo RMAE have independently been implicated in human Mendelian disorders. Thus, parsing the relationship between allele-specific expression of these genes and disease is of interest...
June 2, 2015: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/24810580/de-novo-microdeletion-of-bcl11a-is-associated-with-severe-speech-sound-disorder
#7
REVIEW
Beate Peter, Mark Matsushita, Kaori Oda, Wendy Raskind
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 general oral and gross motor dyspraxia and hypotonia as well as expressive language and mild intellectual delays...
August 2014: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/24807205/a-study-of-the-role-of-the-foxp2-and-cntnap2-genes-in-persistent-developmental-stuttering
#8
COMPARATIVE STUDY
Tae-Un Han, John Park, Carlos F Domingues, Danilo Moretti-Ferreira, Emily Paris, Eduardo Sainz, Joanne Gutierrez, Dennis Drayna
A number of speech disorders including stuttering have been shown to have important genetic contributions, as indicated by high heritability estimates from twin and other studies. We studied the potential contribution to stuttering from variants in the FOXP2 gene, which have previously been associated with developmental verbal dyspraxia, and from variants in the CNTNAP2 gene, which have been associated with specific language impairment (SLI). DNA sequence analysis of these two genes in a group of 602 unrelated cases, all with familial persistent developmental stuttering, revealed no excess of potentially deleterious coding sequence variants in the cases compared to a matched group of 487 well characterized neurologically normal controls...
September 2014: Neurobiology of Disease
https://www.readbyqxmd.com/read/24715716/expanding-the-phenotypic-profile-of-boys-with-47-xxy-the-impact-of-familial-learning-disabilities
#9
Carole A Samango-Sprouse, Emily J Stapleton, Francie L Mitchell, Teresa Sadeghin, Thomas P Donahue, Andrea L Gropman
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...
June 2014: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/24319849/performance-of-motor-imitation-in-children-with-and-without-dyspraxia
#10
Korrawan Ruttanathantong, Wantana Siritaratiwat, Sarinya Sriphetcharawut, Alongkot Emasithi, Jiamjit Saengsuwan, Jittima Saengsuwan
BACKGROUND: Motor imitation is truly essential for young children to learn new motor skills, social behavior and skilled acts or praxis. The present study aimed to investigate motor imitation ability between typically-developing children and dyspraxic children and to examine the development trends in both children groups. MATERIAL AND METHOD: The comparison ofmotor imitation was studied in 55 typically-developing children and 59 dyspraxic children aged 5 to 8 years...
July 2013: Journal of the Medical Association of Thailand, Chotmaihet Thangphaet
https://www.readbyqxmd.com/read/24214399/foxp1-mutations-cause-intellectual-disability-and-a-recognizable-phenotype
#11
Anna K Le Fevre, Sharelle Taylor, Neva H Malek, Denise Horn, Christopher W Carr, Omar A Abdul-Rahman, Sherindan O'Donnell, Trent Burgess, Marie Shaw, Jozef Gecz, Nicole Bain, Kerry Fagan, Matthew F Hunter
Mutations in FOXP1, located at 3p13, have been reported in patients with global developmental delay (GDD), intellectual disability (ID), and speech defects. Mutations in FOXP2, located at 7q31, are well known to cause developmental speech and language disorders, particularly developmental verbal dyspraxia (DVD). FOXP2 has been shown to work co-operatively with FOXP1 in mouse development. An overlap in FOXP1 and FOXP2 expression, both in the songbird and human fetal brain, has suggested that FOXP1 may also have a role in speech and language disorders...
December 2013: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/23918746/small-intragenic-deletion-in-foxp2-associated-with-childhood-apraxia-of-speech-and-dysarthria
#12
Samantha J Turner, Michael S Hildebrand, Susan Block, John Damiano, Michael Fahey, Sheena Reilly, Melanie Bahlo, Ingrid E Scheffer, Angela T Morgan
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...
September 2013: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/23825019/homozygous-deletion-in-tusc3-causing-syndromic-intellectual-disability-a-new-patient
#13
Sara Loddo, Valentina Parisi, Viola Doccini, Tiziana Filippi, Laura Bernardini, Paola Brovedani, Federica Ricci, Antonio Novelli, Agatino Battaglia
Defects in the TUSC3 gene have been identified in individuals with nonsyndromic autosomal recessive intellectual disability (ARID), due to either point mutations or intragenic deletions. We report on a boy with a homozygous microdeletion 8p22, sizing 203 kb, encompassing the first exon of the TUSC3 gene, detected by SNP-array analysis (Human Gene Chip 6.0; Affymetrix). Both nonconsanguineous parents come from a small Sicilian village and were heterozygous carriers of the microdeletion. The propositus had a few dysmorphic features and a moderate cognitive impairment...
August 2013: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/23600713/social-participation-by-children-with-developmental-coordination-disorder-compared-to-their-peers
#14
COMPARATIVE STUDY
Audette Sylvestre, Line Nadeau, Line Charron, Nicole Larose, Céline Lepage
PURPOSE: Two objectives are being pursued: (1) to describe and compare the level of social participation of children aged 5-13 with developmental coordination disorder (DCD) to children of the same age with typical development (TD) and (2) to describe and compare the level of social participation of two subgroups of youths with DCD, e.g. children with dyspraxia affecting both the motor sphere and the verbal sphere (mixed dyspraxia) and children with developmental dyspraxia. METHOD: This cross-sectional study was conducted among 27 youngsters with DCD: 9 having developmental dyspraxia and 18 having mixed dyspraxia, compared to 27 same-age peers with TD...
October 2013: Disability and Rehabilitation
https://www.readbyqxmd.com/read/22500336/-transitory-cognitive-dysfunction-in-rolandic-epilepsy
#15
N A Ermolenko, A Iu Ermakov, K V Voronkova, I A Buchneva
Forty-four patients with rolandic epilepsy (32 boys, 12 girls), aged from 5 to 14 years, were examined in the prospective study during 5 years. Before the antiepileptic treatment, most of patients had transitory cognitive disturbances. There were the impairment of verbal functions, especially verbal intellect, while non-verbal intellect remained intact; dyspraxia, impairment of auditory-speech memory, disturbances of arbitrary regulation and optical-motor coordination. The cognitive impairment was not severe and did not impact on learning of school program...
2011: Zhurnal Nevrologii i Psikhiatrii Imeni S.S. Korsakova
https://www.readbyqxmd.com/read/22434823/the-disc1-promoter-characterization-and-regulation-by-foxp2
#16
Rosie M Walker, Alison E Hill, Alice C Newman, Gillian Hamilton, Helen S Torrance, Susan M Anderson, Fumiaki Ogawa, Pelagia Derizioti, Jérôme Nicod, Sonja C Vernes, Simon E Fisher, Pippa A Thomson, David J Porteous, Kathryn L Evans
Disrupted in schizophrenia 1 (DISC1) is a leading candidate susceptibility gene for schizophrenia, bipolar disorder and recurrent major depression, which has been implicated in other psychiatric illnesses of neurodevelopmental origin, including autism. DISC1 was initially identified at the breakpoint of a balanced chromosomal translocation, t(1;11) (q42.1;14.3), in a family with a high incidence of psychiatric illness. Carriers of the translocation show a 50% reduction in DISC1 protein levels, suggesting altered DISC1 expression as a pathogenic mechanism in psychiatric illness...
July 1, 2012: Human Molecular Genetics
https://www.readbyqxmd.com/read/21907887/clinical-neuroimaging-features-and-outcome-in-molybdenum-cofactor-deficiency
#17
Kayal Vijayakumar, Rox Gunny, Stephanie Grunewald, Lucinda Carr, Kling W Chong, Catherine DeVile, Robert Robinson, Niamh McSweeney, Prab Prabhakar
Molybdenum cofactor deficiency predominantly affects the central nervous system. There are limited data on long-term outcome or brain magnetic resonance imaging (MRI) features. We examined the clinical, brain MRI, biochemical, genetic, and electroencephalographic features and outcome in 8 children with a diagnosis of molybdenum cofactor deficiency observed in our institution over 10 years. Two modes of presentation were identified: early (classical) onset with predominantly epileptic encephalopathy in 6 neonates, and late (atypical) with global developmental impairment in 2 children...
October 2011: Pediatric Neurology
https://www.readbyqxmd.com/read/21897444/imaging-genetics-of-foxp2-in-dyslexia
#18
Arndt Wilcke, Carolin Ligges, Jana Burkhardt, Michael Alexander, Christiane Wolf, Elfi Quente, Peter Ahnert, Per Hoffmann, Albert Becker, Bertram Müller-Myhsok, Sven Cichon, Johannes Boltze, Holger Kirsten
Dyslexia is a developmental disorder characterised by extensive difficulties in the acquisition of reading or spelling. Genetic influence is estimated at 50-70%. However, the link between genetic variants and phenotypic deficits is largely unknown. Our aim was to investigate a role of genetic variants of FOXP2, a prominent speech and language gene, in dyslexia using imaging genetics. This technique combines functional magnetic resonance imaging (fMRI) and genetics to investigate relevance of genetic variants on brain activation...
February 2012: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/21711233/the-role-of-the-urokinase-receptor-in-epilepsy-in-disorders-of-language-cognition-communication-and-behavior-and-in-the-central-nervous-system
#19
REVIEW
Nadine Bruneau, Pierre Szepetowski
As a key component of the plasminogen activation system, uPAR, the receptor for the plasminogen activator of the urokinase type, is involved in many physiological and pathological processes. Besides its classical roles, there has been increased evidence that uPAR or uPAR-associated pathways, participate in the development, in the functioning and in the pathology of the central nervous system. Qualitative and quantitative changes in the expressions of uPAR and of its canonical ligand uPA have been observed in a large variety of epileptic disorders, either in human or in animal models, as well as in other brain diseases (stroke and brain trauma, multiple sclerosis, Alzheimer's disease, cerebral malaria, HIV-associated leukoencephalopathy and encephalitis)...
2011: Current Pharmaceutical Design
https://www.readbyqxmd.com/read/21663442/genetics-of-speech-and-language-disorders
#20
REVIEW
Changsoo Kang, Dennis Drayna
Vocal communication mediated by speech and language is a uniquely human trait, and has served an important evolutionary role in the development of our species. Deficits in speech and language functions can be of numerous types, including aphasia, stuttering, articulation disorders, verbal dyspraxia, and specific language impairment; language deficits are also related to dyslexia. Most communication disorders are prominent in children, where they are common. A number of these disorders have been shown to cluster in families, suggesting that genetic factors are involved, but their etiology at the molecular level is not well understood...
2011: Annual Review of Genomics and Human Genetics
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