Abigail R Bradshaw, Zoe V J Woodhead, Paul A Thompson, Dorothy V M Bishop
This study investigated the profile of language abilities in a sample of high-achieving English speaking adults with developmental disorders. Ninety-seven adult participants were recruited: 49 with a dyslexia diagnosis (dyslexic group), 16 with a diagnosis of a different developmental disorder including dyspraxia, autism and SpLD (non-dyslexic developmental disorder group) and 32 with no diagnosis (non-disordered group). Dyslexic and non-dyslexic developmental disorder groups demonstrated similar impairments across measures of word reading, working memory, processing speed and oral language...
November 17, 2020: Dyslexia: the Journal of the British Dyslexia Association
Pedro H Lucena, Giulia Armani-Franceschi, Ana Cecília Bispo-Torres, Igor D Bandeira, Mariana F G Lucena, Igor Maldonado, Marielza F Veiga, Diego Miguel, Rita Lucena
Alteration of the KPTN gene, responsible for the coding of kaptin (a protein involved in actin cytoskeletal dynamics), causes a syndrome characterized by macrocephaly, neurodevelopmental delay and epileptic seizures. We report the first Brazilian case of KPTN gene variation, previously described in nine subjects from four interlinked families from an Amish community in Ohio, two Estonian siblings and a 9-year-old boy from Kansas City. We report a case of KPTN-related syndrome in a 5-year-old child which presented macrocephaly, muscular hypotonia, and global development delay...
January 30, 2020: American Journal of Medical Genetics. Part A
Joel Crucitti, Christian Hyde, Mark A Stokes
Previous studies measuring praxis abilities in young autistic children have only used praxis measures that were not optimised for autistic individuals. Hence, we used the FAB-R to measure praxis skills in autistic (n = 38) and typically developing (TD) children (n = 38) aged between four and 10 years. Praxis abilities were generally not different between autistic and TD children. However, total dyspraxia and errors during verbal command and tool use were impaired in autistic children from a specialist autistic school (SAS)...
July 11, 2019: Journal of Autism and Developmental Disorders
Fréderique J Liégeois, Cristina Mei, Lauren Pigdon, Katherine J Lee, Belinda Stojanowski, Mark Mackay, Angela T Morgan
BACKGROUND: The association between left hemisphere stroke and acute speech and language impairment is well documented in adults. However, little is known about this association in childhood arterial ischemic stroke. Here we examined potential predictors of acute speech (dysarthria and apraxia) and language impairments after childhood arterial ischemic stroke, including site of lesion. METHODS: Children with radiologically confirmed acute arterial ischemic stroke, admitted to a tertiary pediatric hospital from 2004 to 2012, were identified from an institutional registry...
November 22, 2018: Pediatric Neurology
G P D Argyropoulos, K E Watkins, E Belton-Pagnamenta, F Liégeois, K S Saleem, M Mishkin, F Vargha-Khadem
Bilateral volume reduction in the caudate nucleus has been established as a prominent brain abnormality associated with a FOXP2 mutation in affected members of the 'KE family', who present with developmental orofacial and verbal dyspraxia in conjunction with pervasive language deficits. Despite the gene's early and prominent expression in the cerebellum and the evidence for reciprocal cerebellum-basal ganglia connectivity, very little is known about cerebellar abnormalities in affected KE members. Using cerebellum-specific voxel-based morphometry (VBM) and volumetry, we provide converging evidence from subsets of affected KE members scanned at three time points for grey matter (GM) volume reduction bilaterally in neocerebellar lobule VIIa Crus I compared with unaffected members and unrelated controls...
November 20, 2018: Cerebellum
Breeanne M Soteros, Qifei Cong, Christian R Palmer, Gek-Ming Sia
The FoxP2 transcription factor and its target genes have been implicated in developmental brain diseases with a prominent language component, such as developmental verbal dyspraxia and specific language impairment. How FoxP2 affects neural circuitry development remains poorly understood. The sushi domain protein SRPX2 is a target of FoxP2, and mutations in SRPX2 are associated with language defects in humans. We have previously shown that SRPX2 is a synaptogenic protein that increases excitatory synapse density...
2018: PloS One
Anjana N Bhat, Sudha M Srinivasan, Colleen Woxholdt, Aaron Shield
Children with autism spectrum disorder present with a variety of social communication deficits such as atypicalities in social gaze and verbal and non-verbal communication delays as well as perceptuo-motor deficits like motor incoordination and dyspraxia. In this study, we had the unique opportunity to study praxis performance in deaf children with and without autism spectrum disorder in a fingerspelling context using American Sign Language. A total of 11 deaf children with autism spectrum disorder and 11 typically developing deaf children aged between 5 and 14 years completed a fingerspelling task...
April 2018: Autism: the International Journal of Research and Practice
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
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