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1.
J Speech Lang Hear Res ; 66(9): 3536-3549, 2023 09 13.
Artigo em Inglês | MEDLINE | ID: mdl-37532242

RESUMO

PURPOSE: The purpose of this study was to determine the significance and directions of the relationships among oral and manual fine motor skills and language abilities among Spanish-English bilingual children. If such relationships exist, this would support a shared biological influence on motor and language development. METHOD: Participants included 56 bilingual children, 24 of whom met criteria for developmental language disorder (DLD), recruited based on teacher concern for language and/or reading comprehension abilities. Students participated in a battery of baseline tests to determine motor, language, and cognitive abilities. Correlations among all variables were examined for direction of relationships. Regression models explored the predictive power of motor skills with Spanish and English language ability as the outcome measure. RESULTS: Oral fine motor abilities (diadochokinetic rate productions of /pa/ and /pata/) predicted Spanish (but not English) oral language abilities in the expected direction (i.e., faster rates were associated with better language). Manual fine motor performance on computer tapping tasks was not related to performance in either language. CONCLUSIONS: Oral fine motor abilities are related to language abilities in bilingual children, but only for the native language. We did not find reliable differences in oral and manual fine motor skills between groups of bilingual children with and without DLD. These findings support a limited role of shared biological influences on motor and language development.


Assuntos
Transtornos do Desenvolvimento da Linguagem , Multilinguismo , Humanos , Criança , Desenvolvimento da Linguagem , Cognição , Transtornos do Desenvolvimento da Linguagem/psicologia , Aptidão , Testes de Linguagem
2.
Am J Speech Lang Pathol ; 32(4): 1397-1412, 2023 07 10.
Artigo em Inglês | MEDLINE | ID: mdl-37146603

RESUMO

PURPOSE: Precision medicine is an emerging intervention paradigm that leverages knowledge of risk factors such as genotypes, lifestyle, and environment toward proactive and personalized interventions. Regarding genetic risk factors, examples of interventions informed by the field of medical genomics are pharmacological interventions tailored to an individual's genotype and anticipatory guidance for children whose hearing impairment is predicted to be progressive. Here, we show how principles of precision medicine and insights from behavior genomics have relevance for novel management strategies of behaviorally expressed disorders, especially disorders of spoken language. METHOD: This tutorial presents an overview of precision medicine, medical genomics, and behavior genomics; case examples of improved outcomes; and strategic goals toward enhancing clinical practice. RESULTS: Speech-language pathologists (SLPs) see individuals with various communication disorders due to genetic variants. Ways of using insights from behavior genomics and implementing principles of precision medicine include recognizing early signs of undiagnosed genetic disorders in an individual's communication patterns, making appropriate referrals to genetics professionals, and incorporating genetic findings into management plans. Patients benefit from a genetics diagnosis by gaining a deeper and more prognostic understanding of their condition, obtaining more precisely targeted interventions, and learning about their recurrence risks. CONCLUSIONS: SLPs can achieve improved outcomes by expanding their purview to include genetics. To drive this new interdisciplinary framework forward, goals should include systematic training in clinical genetics for SLPs, enhanced understanding of genotype-phenotype associations, leveraging insights from animal models, optimizing interprofessional team efforts, and developing novel proactive and personalized interventions.


Assuntos
Transtornos da Comunicação , Patologia da Fala e Linguagem , Humanos , Fala , Medicina de Precisão , Transtornos da Comunicação/genética , Genômica , Comunicação , Patologia da Fala e Linguagem/educação
3.
J Speech Lang Hear Res ; : 1-13, 2023 May 26.
Artigo em Inglês | MEDLINE | ID: mdl-37235746

RESUMO

PURPOSE: Babble Boot Camp (BBC) is a parent-implemented telepractice intervention for infants at risk for speech and language disorders. BBC uses a teach-model-coach-review approach, delivered through weekly 15-min virtual meetings with a speech-language pathologist. We discuss accommodations needed for successful virtual follow-up test administration and preliminary assessment outcomes for children with classic galactosemia (CG) and controls at age 2.5 years. METHOD: This clinical trial included 54 participants, 16 children with CG receiving BBC speech-language intervention from infancy, age 2 years, five children receiving sensorimotor intervention from infancy and changing to speech-language intervention at 15 months until 2 years of age, seven controls with CG, and 26 typically developing controls. The participants' language and articulation were assessed via telehealth at age 2.5 years. RESULTS: The Preschool Language Scale-Fifth Edition (PLS-5) was successfully administered with specific parent instruction and manipulatives assembled from the child's home. The GFTA-3 was successfully administered to all but three children who did not complete this assessment due to limited expressive vocabularies. Referrals for continued speech therapy based on PLS-5 and GFTA-3 scores were made for 16% of children who received BBC intervention from infancy as compared to 40% and 57% of children who began BBC at 15 months of age or did not receive BBC intervention, respectively. CONCLUSIONS: With extended time and accommodations from the standardized administration guidelines, virtual assessment of speech and language was possible. However, given the inherent challenges of testing very young children virtually, in-person assessment is recommended, when possible, for outcome measurements.

4.
bioRxiv ; 2023 Feb 27.
Artigo em Inglês | MEDLINE | ID: mdl-36909570

RESUMO

This exploratory study tested and validated the use of data fusion and machine learning techniques to probe high-throughput omics and clinical data with a goal of exploring the etiology of developmental dyslexia. Developmental dyslexia is the leading learning disability in school aged children affecting roughly 5-10% of the US population. The complex biological and neurological phenotype of this life altering disability complicates its diagnosis. Phenome, exome, and metabolome data was collected allowing us to fully explore this system from a behavioral, cellular, and molecular point of view. This study provides a proof of concept showing that data fusion and ensemble learning techniques can outperform traditional machine learning techniques when provided small and complex multi-omics and clinical datasets. Heterogenous stacking classifiers consisting of single-omic experts/models achieved an accuracy of 86%, F1 score of 0.89, and AUC value of 0.83. Ensemble methods also provided a ranked list of important features that suggests exome single nucleotide polymorphisms found in the thalamus and cerebellum could be potential biomarkers for developmental dyslexia and heavily influenced the classification of DD within our machine learning models.

5.
Am J Med Genet A ; 191(1): 120-129, 2023 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-36271830

RESUMO

Subtelomeric 19p13.3 deletions have been associated with diverse anatomical and developmental phenotypes. A recent study of eight patients with subtelomeric interstitial 19p13.3 microdeletions at 0.3-1.4 Mb (hg 19) showed associations with growth restrictions, skeletal deformities, craniofacial anomalies, congenital heart defects, renal malformations, hernias, immune system deficits, fine and gross motor delays, speech delays, and developmental and learning delays. The authors defined two small regions of overlap containing four and 11 genes, respectively, with potential haploinsufficiency. Here, we present a new case with a de novo 184 kb deletion containing eight genes, three of which fall into the second previously identified small region of overlap, reducing the shared region to 46 kb. Phenotypic traits include most of the core findings in the previously reported cases but not growth restrictions, craniofacial anomalies, renal malformation, and learning disability. A closer look at the speech and motor delays reveals apraxic speech and discoordination in the fine and gross motor domain, consistent with cerebellar involvement across motor systems. Findings are consistent with a role of AZU1 in the observed immune deficiencies and PTBP1 in the observed skeletal, abdominal, speech, language, motor, and sensory traits. This case thus contributes to a more nuanced understanding of the subtelomeric 19p13.3 deletion region.


Assuntos
Anormalidades Craniofaciais , Deficiência Intelectual , Transtornos do Desenvolvimento da Linguagem , Humanos , Deleção Cromossômica , Fala , Fenótipo , Transtornos do Desenvolvimento da Linguagem/genética , Telômero , Anormalidades Craniofaciais/genética , Deficiência Intelectual/genética , Ribonucleoproteínas Nucleares Heterogêneas/genética , Proteína de Ligação a Regiões Ricas em Polipirimidinas/genética
6.
Am J Speech Lang Pathol ; 31(6): 2527-2538, 2022 11 16.
Artigo em Inglês | MEDLINE | ID: mdl-36251874

RESUMO

PURPOSE: This study evaluated the feasibility of Babble Boot Camp (BBC) for use with infants with classic galactosemia (CG) starting at less than 6 months of age. BBC is a parent-implemented intervention delivered by speech-language pathologists (SLPs) entirely via telepractice with the potential to increase access to early preventative interventions. We evaluated BBC feasibility based on acceptability, implementation, and practicality. METHOD: We obtained data from 16 parents of infants with CG (mean age at enrollment = 3.38 months) involved in a large randomized clinical trial of BBC. BBC uses a teach-model-coach-review approach to provide parents with strategies to support their child's communication development. Families completed, on average, eighty-one 15-min sessions over a 20-month intervention period. We drew data from surveys completed by parents at the end of the intervention period, intervention logs maintained by the SLPs, and intervention fidelity checks completed by research assistants. RESULTS: Data drawn from parent surveys, intervention logs, and intervention fidelity checks revealed high parent acceptability, high rates of completion and compliance, and low costs in terms of parent and clinician time. CONCLUSION: Results suggest that BBC is feasible for families of infants with CG, warranting further examination of BBC across a broader range of children with CG as well as other infants who are at predictable risk for speech and language impairment.


Assuntos
Transtornos da Comunicação , Galactosemias , Criança , Lactente , Humanos , Estudos de Viabilidade , Pais , Comunicação , Distúrbios da Fala
7.
Am J Med Genet A ; 188(12): 3401-3415, 2022 12.
Artigo em Inglês | MEDLINE | ID: mdl-35856171

RESUMO

BCL11A is implicated in BCL11A-Related Intellectual Development Disorder (BCL11A-IDD). Previously reported cases had various types of BCL11A variants (copy-number variations [CNVs], singlenucleotide variants [SNVs]). Phenotypes included global, cognitive, and motor delays, autism spectrum disorder (ASD), craniofacial dysmorphology, and speech and language delays described generally, with only two reports specifying childhood apraxia of speech (CAS). Here, we present three additional children with CAS and de novo BCL11A variants, a p.Ala182Thr nonconservative missense and a p.GLu611.Ter nonsense variant, both in exon 4, and a 106 kb deletion harboring exons 1 and 2. All three children have fine and gross motor discoordination, feeding difficulties, and visual motor disorders. Intellectual and learning disabilities and disordered language skills were seen only in the child with the missense variant and the child with the deletion. These findings align with, and expand, previous findings in that BCL11A variants have significant and highly penetrant apraxic effects across motor systems, consistent with cerebellar involvement. The deletion of exons 1 and 2 is the smallest BCL11A CNV with the full phenotypic expression reported to date. The present results support previous findings in that BCL11A-IDD can result from BCL11A variants regardless of type (deletion, SNVs). A gene expression study shows that BCL11 is expressed highly in the early developing cerebellum and primary motor and auditory cortices. Significant co-expression rates in these regions with genes previously implicated in disorders of spoken language and in ASD support the phenotypic overlaps in children with BCL11A-IDD, CAS, and ASD.


Assuntos
Apraxias , Transtorno do Espectro Autista , Deficiência Intelectual , Transtornos do Desenvolvimento da Linguagem , Humanos , Apraxias/genética , Transtorno do Espectro Autista/genética , Cerebelo , Redes Reguladoras de Genes , Deficiência Intelectual/genética , Transtornos do Desenvolvimento da Linguagem/genética , Fenótipo , Proteínas Repressoras/genética , Fala , Fatores de Transcrição/genética
8.
HGG Adv ; 3(3): 100119, 2022 Jul 14.
Artigo em Inglês | MEDLINE | ID: mdl-35677809

RESUMO

Precision medicine is an emerging approach to managing disease by taking into consideration an individual's genetic and environmental profile toward two avenues to improved outcomes: prevention and personalized treatments. This framework is largely geared to conditions conventionally falling into the field of medical genetics. Here, we show that the same avenues to improving outcomes can be applied to conditions in the field of behavior genomics, specifically disorders of spoken language. Babble Boot Camp (BBC) is the first comprehensive and personalized program designed to proactively mitigate speech and language disorders in infants at predictable risk by fostering precursor and early communication skills via parent training. The intervention begins at child age 2 to 5 months and ends at age 24 months, with follow-up testing at 30, 42, and 54 months. To date, 44 children with a newborn diagnosis of classic galactosemia (CG) have participated in the clinical trial of BBC. CG is an inborn error of metabolism of genetic etiology that predisposes up to 85% of children to severe speech and language disorders. Of 13 children with CG who completed the intervention and all or part of the follow-up testing, only one had disordered speech and none had disordered language skills. For the treated children who completed more than one assessment, typical speech and language skills were maintained over time. This shows that knowledge of genetic risk at birth can be leveraged toward proactive and personalized management of a disorder that manifests behaviorally.

9.
Inorg Chem ; 61(24): 9195-9204, 2022 Jun 20.
Artigo em Inglês | MEDLINE | ID: mdl-35666659

RESUMO

A family of Pt(II) complexes bearing monoanionic C^N^N ligands as luminophoric units as well as a set of monodentate ligands derived from allenylidene and carbene species were synthesized and characterized in terms of structure and photophysical properties. In addition, we present the extraordinary molecular structure of a phosphorescent complex carrying an allenylidene ligand. Depending on the co-ligand, an effect can be observed in the photoluminescence lifetimes and quantum yields as well as in the radiative and radiation less deactivation rate constants. Their correlation with the substitution pattern was analyzed by comparing the photoluminescence in fluid solution at room temperature and in frozen glassy matrices at 77 K. Moreover, in order to gain a deeper understanding of the electronic states responsible for the optical properties, density functional theory calculations were performed. Finally, the cytotoxicity of the complexes was evaluated in vitro, showing that the cationic complexes exhibit strong effects at low micromolar concentrations. The calculated half-maximum effective concentrations (EC50 values) were 4 times lower in comparison to the established antitumor agent oxaliplatin. In contrast, the neutral species are less toxic, rendering them as potential bioimaging agents.


Assuntos
Antineoplásicos , Carbono/química , Platina/química , Teoria Quântica , Antineoplásicos/química , Antineoplásicos/farmacologia , Ligantes , Luminescência , Estrutura Molecular
10.
Matern Child Health J ; 26(Suppl 1): 10-19, 2022 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-35060070

RESUMO

OBJECTIVES: To describe the process of developing and implementing experiential learning through translational research teams that engage diverse undergraduate and graduate students. METHODS: After a college redesign, translational research teams were developed to foster multidisciplinary research and better integrate students with faculty research, community, and clinical activities. Three primary approaches were used to engage undergraduate and graduate students in the maternal and child health translational research team (MCH TrT). These included an undergraduate experiential learning course; participation in translational research team meetings and events; and mentorship activities including graduate student theses and supplementary projects. RESULTS: Since 2019, a total of 56 students have engaged with the MCH translational research team. The majority (64%) of students engaging in translational research were undergraduates. Racial and ethnic diversity was evident with 16% Latinx, 14% Black/African American, 12% Asian, 10% two or more races, and 4% Native American or Native Hawaiian. A large proportion (42%) of students indicated that they were first-generation college students, while 24% indicated they had a disability. Five themes emerged from student feedback about their involvement in the experiential learning course: the value of translational research, development of research skills, collaboration, practice development, and value for community partners. CONCLUSIONS FOR PRACTICE: Through an MCH translational research team, we have established a pathway to enhance diversity among the MCH workforce which will increase recruitment and retention of underrepresented groups, and ultimately improve MCH research and practice.


Assuntos
Estudantes , Pesquisa Translacional Biomédica , Criança , Humanos , Mentores , Estados Unidos , Universidades , Recursos Humanos
11.
Artigo em Inglês | MEDLINE | ID: mdl-34686119

RESUMO

The 4S-Ag(I)-C base pair (4S, 3-((2-(methylthio)pyrimidin-4-yl)thio)propane-1,2-diol; C, deoxycytidine) represents the first metal-mediated base pair comprising an S-glycosidic nucleoside analogue. We report here the synthesis of the phosphoramidite suitable for the automated solid-phase synthesis of DNA oligonucleotides containing 4S and its silver(I)-binding ability. The DNA duplexes comprising a 4S:C mispair exhibit a large thermal stabilization upon the addition of one equivalent of silver ions, giving rise to the formation of the above-mentioned silver(I)-mediated base pair. By formally replacing the sulfur atom in the glycosidic bond by an oxygen atom, i.e., by applying 3-((2-(methylthio)pyrimidin-4-yl)oxy)propane-1,2-diol (4 O) as the artificial nucleoside analogue, the participation of this atom as a donor atom in silver(I)-mediated base pairing is shown to be neglectable.Supplemental data for this article is available online at.


Assuntos
Prata
12.
Ann Hum Genet ; 86(1): 45-51, 2022 01.
Artigo em Inglês | MEDLINE | ID: mdl-34582045

RESUMO

The PhenX Toolkit (https://www.phenxtoolkit.org/) is an online catalog of recommended measurement protocols to facilitate cross-study analyses for biomedical research. An expert review panel (ERP) reviewed and updated the PhenX Toolkit Speech and Hearing domain to improve the precision and consistency of speech, language, and hearing disorder phenotypes. A three-member ERP convened in August 2018 to review the measurement protocols in the PhenX Speech and Hearing domain. Aided by three additional experts in voice assessment, vertigo, and stuttering, the ERP updated the 28 protocols to reflect the latest science and technology. ERP recommendations include six new protocols, five updated protocols (from the same source), and one retired protocol. New additions include two voice-related, three hearing-related, and two speech-related protocols. Additions reflect new phone/tablet applications for hearing and language, and clinical evaluations of voice. "Language" was added to the domain name, which is now "Speech, Language, and Hearing," to represent language-related protocols. These protocols can facilitate the assessment of speech, language, and hearing in clinical and population research. Common data elements (i.e., use of the same variables across studies) used by geneticists, otolaryngologists, audiologists, speech-language pathologists, and in other disciplines can lead to cross-study data integration and increased statistical power when studies are combined.


Assuntos
Projetos de Pesquisa , Fala , Audição , Humanos , Fenótipo
13.
Am J Speech Lang Pathol ; 30(6): 2616-2634, 2021 11 04.
Artigo em Inglês | MEDLINE | ID: mdl-34665663

RESUMO

Purpose Babble Boot Camp (BBC) is a package of proactive activities and routines designed to prevent speech and language disorders in infants at predictable risk. It is implemented via parent training and currently undergoing clinical trial in children with a newborn diagnosis of classic galactosemia (CG), a metabolic disease with high risk of speech and language disorders. The purpose of this study is to provide updates to a previous pilot study and to present the first set of post-intervention results. Method The intervention and data collection occurred during child ages < 6-24 months, with follow-up assessments of speech and language at ages 2.5 and 3.5 years. Treatment targets included earliest vocalization rates, babble complexity, speech production accuracy, and vocabulary and syntactic growth. The oldest 15 children with CG (including three untreated controls) completed the first set of follow-up assessments. Aggregate data up to 10 months were available for 17 treated children with CG, six untreated children with CG, and six typical controls. Results At ages 7-9 months, babbling complexity, as measured with mean babbling level, was higher in the treated children with CG than in the untreated children with CG and the typical controls. Prior to 24 months of age, the treated children with CG had greater expressive but not receptive vocabulary sizes than an untreated control. Follow-up testing showed typical language scores for all 12 treated children with CG and typical articulation scores for 11 of these, whereas one of three untreated children with CG had low articulation and expressive language scores. Conclusions The BBC appears to be a viable intervention to support the speech and expressive language development of children with GC. Future studies will evaluate the relative contributions of the earliest and later BBC components to outcomes.


Assuntos
Galactosemias , Transtornos da Linguagem , Criança , Galactosemias/diagnóstico , Galactosemias/genética , Galactosemias/terapia , Humanos , Lactente , Recém-Nascido , Projetos Piloto , Fala , Distúrbios da Fala/diagnóstico , Distúrbios da Fala/terapia , Vocabulário
14.
15.
Am J Med Genet A ; 185(5): 1532-1537, 2021 05.
Artigo em Inglês | MEDLINE | ID: mdl-33569883

RESUMO

The 22q11.2 deletion syndrome (22q11.2 DS) is the most common deletion syndrome in humans. In most cases, it occurs de novo. A rare family of three with 22q11.2 deletion syndrome (22q11.2 DS) resulting from an unbalanced 18q;22q translocation is reported here. Their deletion region is atypical in that it includes only 26 of the 36 genes in the minimal critical 22q11.2 DS region but it involves the loss of the centromeric 22q region and the entire p arm. The deletion region overlaps with seven other rare atypical cases; common to all cases was the loss of a region including SEPT5-GP1BB proximally and most of ARVCF distally. Interrogation of the deleted 22q region proximal to the canonical 22q11.2 deletion region in the DECIPHER database showed seven cases with isolated or combined traits of 22q11.2 DS, including three with clefts. The phenotypes in the present family thus may result from the loss of a subset of genes in the critical region, or alternatively the loss of other genes or sequences in the proximal 22q deletion region, or interactive effects among these. Despite the identical deletion locus in the three affected family members, expression of the 22q11.2 DS traits differed substantially among them. These three related cases thus contribute to knowledge of 22q11.2 DS in that their unusual deletion locus co-occurred with the cardinal features of the syndrome while their identical deletions are associated with variable phenotypic expression.


Assuntos
Proteínas de Ciclo Celular/genética , Síndrome de DiGeorge/genética , Complexo Glicoproteico GPIb-IX de Plaquetas/genética , Septinas/genética , Translocação Genética/genética , Adolescente , Adulto , Criança , Deleção Cromossômica , Cromossomos Humanos Par 18/genética , Cromossomos Humanos Par 22/genética , Síndrome de DiGeorge/patologia , Feminino , Predisposição Genética para Doença , Humanos , Masculino , Fenótipo , Adulto Jovem
16.
Clin Linguist Phon ; 35(4): 340-367, 2021 04 03.
Artigo em Inglês | MEDLINE | ID: mdl-31959003

RESUMO

Whether sequential and spatial letter reversals characterize dyslexia in children has been unclear, largely due to developmental variability of these errors in children with and without dyslexia. Here we demonstrate both types of reversals for the first time in adults with dyslexia (n = 22) but not in control adults (n = 20). Participants evaluated 576 word pairs that consisted of two identical words or two words that differed subtly, by categorizing them as same or different. Two subsets of word pairs differed in sequential (e.g. "two tow") and spatial (e.g. "cob cod") letter reversals. The adults with dyslexia were less accurate than the controls regarding both types of word pairs. Their accuracy during left/right letter reversals was lower, compared to both up/down letter reversals (e.g. "cub cup") and nonsymmetric letter similarities (e.g. "half halt"). Accuracy during left/right reversals was correlated with accuracy during sequential rearrangement in the word pair task as well as with a composite measure of sequential processing based on nonword repetition, nonword reading, and multisyllabic word repetition. It was also correlated with a composite measure of literacy skills. A subset of the dyslexia group who produced left/right errors during a rapid single letter naming task obtained lower accuracy than the dyslexia subgroup without such errors during both types of letter reversals, and their overall literacy skills were lower. We conclude that sequential and left/right letter reversals characterize a severe dyslexia subtype. These two types of reversal are associated, are part of a general deficit in sequential processing likely due to cerebellar deficits, and persist into adulthood.


Assuntos
Dislexia , Adulto , Criança , Humanos , Leitura
17.
Clin Linguist Phon ; 35(4): 310-339, 2021 04 03.
Artigo em Inglês | MEDLINE | ID: mdl-32552235

RESUMO

Recent studies showed that some adults with dyslexia have difficulty processing sequentially arranged information. In a companion study, this deficit manifested as low accuracy during a word pair comparison task involving same/different decisions when two words differed in their letter sequences. This sequential deficit was associated with left/right spatial letter confusion. In the present study, we found the same underlying difficulty with sequential and spatial letter processing during word spelling. Participants were the same 22 adults with dyslexia and 20 age- and gender-matched controls as in the companion study. In the spelling task, sequential error rates were higher in the dyslexia group, compared to the controls. Measures of accuracy of serial letter order during the spelling task and the word comparison task were correlated. Only three participants, each with dyslexia, produced left/right letter reversals during spelling. These were the same participants who produced left/right errors when naming single letters. They also had profound difficulty with sequential and left/right letter processing in the spelling and word comparison tasks, and they had the most severe spelling impairment. We conclude that this pervasive, persistent difficulty with sequential and spatial reversals contributes to a severe dyslexia subtype. In the dyslexia group as a whole, additional and separate sources of errors were underspecified word representations in long-term memory and homophone errors that likely represent language-based deficits in word knowledge. In the participants, these three factors (sequential/spatial letter confusion, underspecified word form representation, language-based deficits) occurred either as single factors or in combination with each other.


Assuntos
Dislexia , Processamento Espacial , Adulto , Humanos , Idioma , Leitura
18.
Clin Linguist Phon ; 35(4): 368-392, 2021 04 03.
Artigo em Inglês | MEDLINE | ID: mdl-33327803

RESUMO

Individuals with childhood apraxia of speech (CAS) have motor deficits in systems beyond speech and also global deficits in sequential processing, consistent with cerebellar dysfunction. We investigated the cerebellar hypothesis of CAS in 18 children and adolescents with CAS, 11 typical controls, an adult with a probable CAS history, and an adult with a history of a cerebellar stroke. Compared to the controls, children and adolescents with CAS had the greatest difficulty with rapid syllable repetition when alternating between two different syllables types, less difficulty when switching among three different syllables, and no difficulty when repeating the same syllable. They also showed difficulty with alternating but not repetitive key tapping. Motor speeds during the syllable repetition and key tapping tasks where correlated, consistent with a central motor delimiter that governs both systems. Participants with CAS obtained low scores in a test of fine motor ability, where the tasks required rapid integration of complex hand movement sequences. The adult with the probable CAS history obtained motor performance scores that generally resembled those in the children and adolescents with CAS, consistent with motor deficits that persist into adulthood. The participant with the cerebellar stroke history showed deficits in tests of fine and gross motor ability as well as balance. His repetitive and alternating key tapping was slow in the ipsilateral hand relative to the stroke lesion. The shared deficits in sequential motor functions among all participants with CAS and the cerebellar stroke patient are consistent with persisting cerebellar dysfunctions in CAS.


Assuntos
Apraxias , Acidente Vascular Cerebral , Adolescente , Adulto , Criança , Humanos , Fala , Distúrbios da Fala , Medida da Produção da Fala , Acidente Vascular Cerebral/complicações
19.
Front Physiol ; 11: 335, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-32411007

RESUMO

BACKGROUND: Resistance training (RT) under hypoxic conditions has been used to increase muscular performance under normoxic conditions in young people. However, the effects of RT and thus of RT under hypoxia (RTH) could also be valuable for parameters of physical capacity and body composition across the lifespan. Therefore, we compared the effects of low- to moderate-load RTH with matched designed RT on muscular strength capacity, cardiopulmonary capacity, hematological adaptation, and body composition in young and older people. METHODS: In a pre-post randomized, blinded, and controlled experiment, 42 young (18 to 30 year) and 42 older (60 to 75 year) participants were randomly assigned to RTH or RT (RTH young, RT young, RTH old, RT old). Both groups performed eight resistance exercises (25-40% of 1RM, 3 × 15 repetitions) four times a week over 5 weeks. The intensity of hypoxic air for the RTH was administered individually in regards to the oxygen saturation of the blood (SpO2): ∼80-85%. Changes and differences in maximal isokinetic strength, cardiopulmonary capacity, total hemoglobin mass (tHb), blood volume (BV), fat free mass (FFM), and fat mass (FM) were determined pre-post, and the acute reaction of erythropoietin (EPO) was tested during the intervention. RESULTS: In all parameters, no significant pre-post differences in mean changes (time × group effects p = 0.120 to 1.000) were found between RTH and RT within the age groups. However, within the four groups, isolated significant improvements (p < 0.050) of the single groups were observed regarding the muscular strength of the legs and the cardiopulmonary capacity. DISCUSSION: Although the hypoxic dose and the exercise variables of the resistance training in this study were based on the current recommendations of RTH, the RTH design used had no superior effect on the tested parameters in young and older people in comparison to the matched designed RT under normoxia after a 5-week intervention period. Based on previous RTH-studies as well as the knowledge about RT in general, it can be assumed that the expected higher effects of RTH can may be achieved by changing exercise variables (e.g., longer intervention period, higher loads).

20.
Clin Neurophysiol ; 130(11): 2182-2192, 2019 11.
Artigo em Inglês | MEDLINE | ID: mdl-31451333

RESUMO

OBJECTIVE: A recent functional magnetic resonance imaging (fMRI) study of adults with dyslexia showed a general deficit in suppressing responses to various types of repetitive stimuli. This diminished neural adaptation may interfere with implicit learning and forming stable word representations. With fMRI, spatial but not temporal characteristics of the adaptation response could be identified. We address this knowledge gap using event-related potentials. METHODS: Fourteen adults with dyslexia and 14 controls participated in an auditory gating paradigm using tone pairs. Response amplitudes and latencies for N1 and P2 were measured. Participants also compared word pairs consisting of identical or subtly different words, a task requiring stable word representations. RESULTS: Only the controls showed a robust gating effect in an attenuated N1 response to the second tone relative to the first. The dyslexia group was less accurate than the controls in detecting word differences. The N1 gating magnitude was associated with this detection accuracy. CONCLUSIONS: Neural adaptation occurs by approximately 100 ms after stimulus presentation and is diminished in adults with dyslexia. This complements fMRI findings of relevant brain regions by implying a time window representing sensory and pre-attentive auditory processes. SIGNIFICANCE: The association between gating magnitude and word discrimination contributes to a neurophysiological account of underspecified word representations.


Assuntos
Córtex Auditivo/fisiopatologia , Percepção Auditiva/fisiologia , Dislexia/fisiopatologia , Potenciais Evocados Auditivos/fisiologia , Estimulação Acústica , Adaptação Fisiológica/fisiologia , Adolescente , Adulto , Idoso , Atenção/fisiologia , Eletroencefalografia , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Tempo de Reação/fisiologia , Leitura , Adulto Jovem
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