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Verbal dyspraxia

Trine Printz, Camilla Slot Mehlum, Gohar Nikoghosyan-Bossen
Childhood apraxia of speech and oral dyspraxia are subtypes of dyspraxia: a neurological motor disorder with absence of neuromuscular deficits. The core impairment is in planning and/or programming spatiotemporal parameters of movement sequences, which results in errors in speech sound production and prosody, or in oral motor movements and gestures. Correct diagnostics and focus on differential diagnoses and co-morbidity are crucial, as treatment differs from other types of speech- and oral motor disorders...
March 19, 2018: Ugeskrift for Laeger
Gohar Nikoghosyan-Bossen
In the absence of any known neurological condition, dyspraxia is the inability to plan and execute movement. This case report describes a girl with swallowing difficulties, who was diagnosed with oral dyspraxia, as all other possible explanations had been ruled out. A percutaneous endoscopic gastrostomy was performed at the age of 6.5 months, and as a five-year-old she was still dependent on supplementary nutrition through the tube, even though she had gradually learned to swallow. Her difficulties to correctly pronounce syllables and words were later diagnosed as childhood apraxia of speech, another subtype of dyspraxia...
February 26, 2018: Ugeskrift for Laeger
Katrin Schulze, Faraneh Vargha-Khadem, Mortimer Mishkin
The discovery and description of the affected members of the KE family (aKE) initiated research on how genes enable the unique human trait of speech and language. Many aspects of this genetic influence on speech-related cognitive mechanisms are still elusive, e.g. if and how cognitive processes not directly involved in speech production are affected. In the current study we investigated the effect of the FOXP2 mutation on Working Memory (WM). Half the members of the multigenerational KE family have an inherited speech-language disorder, characterised as a verbal and orofacial dyspraxia caused by a mutation of the FOXP2 gene...
January 8, 2018: Neuropsychologia
Colleen Keen, Carole Samango-Sprouse, Holly Dubbs, Elaine H Zackai
Koolen-de Vries Syndrome (KdVS), also referred to as 17q21.31 microdeletion syndrome, is caused by haploinsufficiency of the KANSL1 gene. This genetic disorder is associated with a clinical phenotype including facial dysmorphism, developmental delay, and friendly disposition, as well as mild-to-moderate intellectual disability. We present the case of a 10 year 8 month old female with KdVS due to a de novo intragenic KANSL1 mutation. At this time, she does not present with intellectual disability, and her verbal intelligence is relatively preserved, although she has perceptual deficits, developmental dyspraxia, and severe speech disorder...
March 2017: American Journal of Medical Genetics. Part A
Caroline McCool, Adiaha Spinks-Franklin, Lenora M Noroski, Lorraine Potocki
Potocki-Shaffer syndrome is a contiguous gene deletion syndrome involving 11p11.2p12 and characterized by multiple exostoses, biparietal foramina, genitourinary anomalies in males, central nervous system abnormalities, intellectual disability, and craniofacial abnormalities. Current literature implicates haploinsufficiency of three genes (ALX4, EXT2, and PHF21A) in causing some of the cardinal features of PSS. We report a patient with multiple exostoses, biparietal foramina, and history of mild developmental delay...
March 2017: American Journal of Medical Genetics. Part A
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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