The Experts below are selected from a list of 45723 Experts worldwide ranked by ideXlab platform
Angela T Morgan - One of the best experts on this subject based on the ideXlab platform.
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Deep phenotyping of speech and Language skills in individuals with 16p11.2 deletion
European Journal of Human Genetics, 2018Co-Authors: Evelina Fedorenko, David J. Amor, Amber Boys, Caitlyn Hoeflin, Peter Carew, Trent Burgess, Simon E. Fisher, Angela T MorganAbstract:Recurrent deletions of a ~600-kb region of 16p11.2 have been associated with a highly penetrant form of childhood apraxia of speech (CAS). Yet prior findings have been based on a small, potentially biased sample using retrospectively collected data. We examine the prevalence of CAS in a larger cohort of individuals with 16p11.2 deletion using a prospectively designed assessment battery. The broader speech and Language phenotype associated with carrying this deletion was also examined. 55 participants with 16p11.2 deletion (47 children, 8 adults) underwent deep phenotyping to test for the presence of CAS and other speech and Language diagnoses. Standardized tests of oral motor functioning, speech production, Language, and non-verbal IQ were conducted. The majority of children (77%) and half of adults (50%) met criteria for CAS. Other speech outcomes were observed including articulation or phonological errors (i.e., phonetic and cognitive-linguistic errors, respectively), dysarthria (i.e., neuromuscular speech disorder), minimal verbal output, and even typical speech in some. Receptive and expressive Language impairment was present in 73% and 70% of children, respectively. Co-occurring neurodevelopmental conditions (e.g., autism) and non-verbal IQ did not correlate with the presence of CAS. Findings indicate that CAS is highly prevalent in children with 16p11.2 deletion with symptoms persisting into adulthood for many. Yet CAS occurs in the context of a broader speech and Language Profile and other neurobehavioral deficits. Further research will elucidate specific genetic and neural pathways leading to speech and Language deficits in individuals with 16p11.2 deletions, resulting in more targeted speech therapies addressing etiological pathways.
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speech and Language in a genotyped cohort of individuals with kabuki syndrome
American Journal of Medical Genetics Part A, 2015Co-Authors: Margaret J Mcmillin, Annette C Da Costa, Joanne Fifer, Kati J Buckingham, Angela T Morgan, Valerie Benoit, Damien Lederer, Michael J BamshadAbstract:Speech and Language deficits are commonly associated with Kabuki syndrome. Yet little is known regarding the specific symptomatology of these disorders, preventing use of targeted treatment programs. Here we detail speech and Language in 16 individuals with Kabuki syndrome (thirteen with KMT2D mutations, one with a KDM6A mutation, and two mutation-negative cases), aged 4–21 years. The most striking speech deficit was dysarthria, characterised by imprecise consonants, harsh vocal quality, hypernasality, reduced rate and stress, and distorted pitch. Oromotor functioning was also impaired. Delayed, rather than disordered, articulation and phonology was common. Both receptive and expressive Language abilities were reduced in the majority and deficits were noted across all Language sub-domains (i.e., semantics, syntax, morphology, and pragmatics) with no clear differentiation or specific Language Profile. Individuals with Kabuki syndrome present with a heterogenous pattern of oromotor, speech, and Language deficits. This variability fits with the multisystem nature of the disorder, which may encompass neurological, orofacial structural, hearing, and cognitive deficits, any or all of which may contribute to speech or Language impairment. Our results suggest that all individuals with Kabuki syndrome have some level of communication deficit, warranting speech pathology involvement in all cases. © 2015 Wiley Periodicals, Inc.
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speech and Language in a genotyped cohort of individuals with kabuki syndrome
American Journal of Medical Genetics Part A, 2015Co-Authors: Margaret J Mcmillin, Annette C Da Costa, Joanne Fifer, Angela T Morgan, Valerie Benoit, Damien Lederer, Cristina Mei, Kati J BuckinghamAbstract:Speech and Language deficits are commonly associated with Kabuki syndrome. Yet little is known regarding the specific symptomatology of these disorders, preventing use of targeted treatment programs. Here we detail speech and Language in 16 individuals with Kabuki syndrome (thirteen with KMT2D mutations, one with a KDM6A mutation, and two mutation-negative cases), aged 4-21 years. The most striking speech deficit was dysarthria, characterised by imprecise consonants, harsh vocal quality, hypernasality, reduced rate and stress, and distorted pitch. Oromotor functioning was also impaired. Delayed, rather than disordered, articulation and phonology was common. Both receptive and expressive Language abilities were reduced in the majority and deficits were noted across all Language sub-domains (i.e., semantics, syntax, morphology, and pragmatics) with no clear differentiation or specific Language Profile. Individuals with Kabuki syndrome present with a heterogenous pattern of oromotor, speech, and Language deficits. This variability fits with the multisystem nature of the disorder, which may encompass neurological, orofacial structural, hearing, and cognitive deficits, any or all of which may contribute to speech or Language impairment. Our results suggest that all individuals with Kabuki syndrome have some level of communication deficit, warranting speech pathology involvement in all cases.
Annette C Da Costa - One of the best experts on this subject based on the ideXlab platform.
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speech and Language in a genotyped cohort of individuals with kabuki syndrome
American Journal of Medical Genetics Part A, 2015Co-Authors: Margaret J Mcmillin, Annette C Da Costa, Joanne Fifer, Kati J Buckingham, Angela T Morgan, Valerie Benoit, Damien Lederer, Michael J BamshadAbstract:Speech and Language deficits are commonly associated with Kabuki syndrome. Yet little is known regarding the specific symptomatology of these disorders, preventing use of targeted treatment programs. Here we detail speech and Language in 16 individuals with Kabuki syndrome (thirteen with KMT2D mutations, one with a KDM6A mutation, and two mutation-negative cases), aged 4–21 years. The most striking speech deficit was dysarthria, characterised by imprecise consonants, harsh vocal quality, hypernasality, reduced rate and stress, and distorted pitch. Oromotor functioning was also impaired. Delayed, rather than disordered, articulation and phonology was common. Both receptive and expressive Language abilities were reduced in the majority and deficits were noted across all Language sub-domains (i.e., semantics, syntax, morphology, and pragmatics) with no clear differentiation or specific Language Profile. Individuals with Kabuki syndrome present with a heterogenous pattern of oromotor, speech, and Language deficits. This variability fits with the multisystem nature of the disorder, which may encompass neurological, orofacial structural, hearing, and cognitive deficits, any or all of which may contribute to speech or Language impairment. Our results suggest that all individuals with Kabuki syndrome have some level of communication deficit, warranting speech pathology involvement in all cases. © 2015 Wiley Periodicals, Inc.
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speech and Language in a genotyped cohort of individuals with kabuki syndrome
American Journal of Medical Genetics Part A, 2015Co-Authors: Margaret J Mcmillin, Annette C Da Costa, Joanne Fifer, Angela T Morgan, Valerie Benoit, Damien Lederer, Cristina Mei, Kati J BuckinghamAbstract:Speech and Language deficits are commonly associated with Kabuki syndrome. Yet little is known regarding the specific symptomatology of these disorders, preventing use of targeted treatment programs. Here we detail speech and Language in 16 individuals with Kabuki syndrome (thirteen with KMT2D mutations, one with a KDM6A mutation, and two mutation-negative cases), aged 4-21 years. The most striking speech deficit was dysarthria, characterised by imprecise consonants, harsh vocal quality, hypernasality, reduced rate and stress, and distorted pitch. Oromotor functioning was also impaired. Delayed, rather than disordered, articulation and phonology was common. Both receptive and expressive Language abilities were reduced in the majority and deficits were noted across all Language sub-domains (i.e., semantics, syntax, morphology, and pragmatics) with no clear differentiation or specific Language Profile. Individuals with Kabuki syndrome present with a heterogenous pattern of oromotor, speech, and Language deficits. This variability fits with the multisystem nature of the disorder, which may encompass neurological, orofacial structural, hearing, and cognitive deficits, any or all of which may contribute to speech or Language impairment. Our results suggest that all individuals with Kabuki syndrome have some level of communication deficit, warranting speech pathology involvement in all cases.
Katherine C. Hustad - One of the best experts on this subject based on the ideXlab platform.
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speech Language Profile groups in school aged children with cerebral palsy nonverbal cognition receptive Language speech intelligibility and motor function
Developmental Neurorehabilitation, 2021Co-Authors: Jennifer U Soriano, Katherine C. HustadAbstract:Purpose: To explore the relationship of intelligibility, receptive Language, executive functioning, and motor skills to nonverbal cognitive skills among children with cerebral palsy (CP) in differe...
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Longitudinal growth of receptive Language in children with cerebral palsy between 18 months and 54 months of age
Developmental Medicine & Child Neurology, 2018Co-Authors: Katherine C. Hustad, Ashley Sakash, Aimee Teo Broman, Paul J. RathouzAbstract:Aim We examined receptive Language developmental trajectories between 18 months and 54 months for three clinical speech-Language Profile groups of children with cerebral palsy (those with speech motor involvement, without speech motor involvement, and with anarthria) and quantified differences from age-level expectations. We identified latent classes of comprehension development, related these classes to clinical Profile groups, and examined how well early receptive Language predicted outcomes. Method We used a prospective longitudinal design. Eighty-five children with cerebral palsy (43 females, 42 males) were followed longitudinally from 18 to 54 months of age. Children were seen two to eight times (322 data points). Children were classified into clinical Profile groups. Language comprehension age-equivalent scores were the primary measures of interest. Results Children with anarthria had significant Language delays, limited developmental change over time, and comprised their own latent class. Children with speech motor impairment had slight receptive Language delays over time. Children with no speech motor impairment had age-appropriate receptive Language over time. Early Language comprehension scores were highly predictive of later latent Profile group membership. Interpretation Early Language comprehension abilities are highly predictive of Language comprehension growth trajectory and suggest that children with early Language delay, particularly those who are non-speaking, should receive Language intervention to support development. What this paper adds There are two growth trajectories for Language comprehension among children with cerebral palsy. Children with speech motor impairment had a constant 6-month receptive Language delay. Children without speech motor impairment had age-appropriate receptive Language. Non-speaking children had significant receptive Language delay. Early Language comprehension change was highly predictive of later trajectory group.
Inge Zink - One of the best experts on this subject based on the ideXlab platform.
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exploring receptive and expressive Language components at the age of 36 months in siblings at risk for autism spectrum disorder
Research in Autism Spectrum Disorders, 2019Co-Authors: Eva Bruyneel, Inge Zink, Ellen Demurie, Petra Warreyn, Herbert RoeyersAbstract:Abstract Background Language difficulties are highly prevalent in children with autism spectrum disorder (ASD) as well as in their younger siblings (high-risk (HR) sibs). Children with ASD show substantial heterogeneity in difficulties with different Language components, but it remains unknown whether this variability is also present in HR-sibs. Method Receptive (RL) and expressive Language (EL) were evaluated in siblings of typically developing children (low-risk (LR) sibs, N = 33) and HR-sibs (N = 30) at 36 months, using the Mullen Scales of Early Learning (MSEL), the Dutch version of the Reynell Developmental Language Scales – 2nd edition (RDLS-2) and spontaneous Language analysis (SL). Next, composite scores for receptive and expressive phonology, grammar, semantics and pragmatics were formed. Group comparisons were performed and delays in the different Language components were explored. Results HR-sibs scored significantly lower than LR-sibs on all standardized measures of RL. For EL, significantly lower scores were only found using the MSEL and not using the RDLS-2 nor using SL. HR-sibs scored significantly lower than LR-sibs for receptive and expressive semantics and receptive grammar. HR-sibs with characteristics of ASD presented with less Language difficulties than HR-sibs without characteristics of ASD. The majority of HR-sibs showed a delay in one or more Language components but these were not consistently detected by the different measures. Conclusions Language delays are highly prevalent in HR-sibs and their representation resembles the Language Profile of children with ASD. Evaluation of Language at the level of phonology, grammar, semantics and pragmatics will detect considerably more children experiencing delayed Language than holistic approaches.
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evaluation of the Language Profile in children with rolandic epilepsy and developmental dysphasia evidence for distinct strengths and weaknesses
Brain and Language, 2017Co-Authors: Marjolein Verly, Robin Gerrits, Lieven Lagae, Stefan Sunaert, Nathalie Rommel, Inge ZinkAbstract:Abstract Although benign, rolandic epilepsy (RE) or benign childhood epilepsy with centro-temporal spikes is often associated with Language impairment. Recently, fronto-rolandic EEG abnormalities have been described in children with developmental dysphasia (DD), suggesting an interaction between Language impairment and interictal epileptiform discharges. To investigate if a behavioral-linguistic continuum between RE and DD exists, a clinical prospective study was carried out to evaluate the Language Profile of 15 children with RE and 22 children with DD. Language skills were assessed using an extensive, standardized test battery. Language was found to be impaired in both study groups, however RE and DD were associated with distinct Language impairment Profiles. Children with RE had difficulties with sentence comprehension, semantic verbal fluency and auditory short-term memory, which are unrelated to age of epilepsy onset and laterality of epileptic focus. In children with DD, sentence comprehension and verbal fluency were among their relative strengths, whereas sentence and lexical production constituted relative weaknesses.
Kati J Buckingham - One of the best experts on this subject based on the ideXlab platform.
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speech and Language in a genotyped cohort of individuals with kabuki syndrome
American Journal of Medical Genetics Part A, 2015Co-Authors: Margaret J Mcmillin, Annette C Da Costa, Joanne Fifer, Kati J Buckingham, Angela T Morgan, Valerie Benoit, Damien Lederer, Michael J BamshadAbstract:Speech and Language deficits are commonly associated with Kabuki syndrome. Yet little is known regarding the specific symptomatology of these disorders, preventing use of targeted treatment programs. Here we detail speech and Language in 16 individuals with Kabuki syndrome (thirteen with KMT2D mutations, one with a KDM6A mutation, and two mutation-negative cases), aged 4–21 years. The most striking speech deficit was dysarthria, characterised by imprecise consonants, harsh vocal quality, hypernasality, reduced rate and stress, and distorted pitch. Oromotor functioning was also impaired. Delayed, rather than disordered, articulation and phonology was common. Both receptive and expressive Language abilities were reduced in the majority and deficits were noted across all Language sub-domains (i.e., semantics, syntax, morphology, and pragmatics) with no clear differentiation or specific Language Profile. Individuals with Kabuki syndrome present with a heterogenous pattern of oromotor, speech, and Language deficits. This variability fits with the multisystem nature of the disorder, which may encompass neurological, orofacial structural, hearing, and cognitive deficits, any or all of which may contribute to speech or Language impairment. Our results suggest that all individuals with Kabuki syndrome have some level of communication deficit, warranting speech pathology involvement in all cases. © 2015 Wiley Periodicals, Inc.
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speech and Language in a genotyped cohort of individuals with kabuki syndrome
American Journal of Medical Genetics Part A, 2015Co-Authors: Margaret J Mcmillin, Annette C Da Costa, Joanne Fifer, Angela T Morgan, Valerie Benoit, Damien Lederer, Cristina Mei, Kati J BuckinghamAbstract:Speech and Language deficits are commonly associated with Kabuki syndrome. Yet little is known regarding the specific symptomatology of these disorders, preventing use of targeted treatment programs. Here we detail speech and Language in 16 individuals with Kabuki syndrome (thirteen with KMT2D mutations, one with a KDM6A mutation, and two mutation-negative cases), aged 4-21 years. The most striking speech deficit was dysarthria, characterised by imprecise consonants, harsh vocal quality, hypernasality, reduced rate and stress, and distorted pitch. Oromotor functioning was also impaired. Delayed, rather than disordered, articulation and phonology was common. Both receptive and expressive Language abilities were reduced in the majority and deficits were noted across all Language sub-domains (i.e., semantics, syntax, morphology, and pragmatics) with no clear differentiation or specific Language Profile. Individuals with Kabuki syndrome present with a heterogenous pattern of oromotor, speech, and Language deficits. This variability fits with the multisystem nature of the disorder, which may encompass neurological, orofacial structural, hearing, and cognitive deficits, any or all of which may contribute to speech or Language impairment. Our results suggest that all individuals with Kabuki syndrome have some level of communication deficit, warranting speech pathology involvement in all cases.
