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El propósito de este proyecto ha sido elaborar una guía que recoja recomendaciones basadas en la evidencia científica para la mejora de la evaluación, el diagnóstico y la intervención en los casos de dispraxia verbal en población infantil con el objetivo de facilitar la labor de los logopedas y mejorar la atención que se les da a los pacientes con dicho trastorno. Para ello, se realizó una búsqueda bibliográfica en las bases de datos Web of Science, Pubmed y Scopus. Se revisaron artículos de 2012 a 2022 sobre la evaluación, el diagnóstico y la intervención logopédica de la dispraxia verbal y se seleccionaron un total de 9 artículos. Los estudios indican que los niños y niñas con dispraxia verbal pueden presentar algunos signos tempranos y describen distintas características de este trastorno, sin llegar a un consenso sobre las mismas. A pesar de ello, se recomienda analizar las habilidades articulatorias, motoras y segmentales de los niños y niñas con posible dispraxia verbal a partir de una evaluación clínica y formal, utilizando transcripciones del habla y empleando medidas cuantitativas. Los métodos de intervención logopédica que han probado eficacia para la mejora de las habilidades de los niños y niñas con dispraxia verbal y su mantenimiento son el de Dinámica Temporal e Indicación Táctil (DTTC), el de Transición Rápida de Sílabas (ReST), la Intervención de Conciencia Fonológica Integrada y el Programa de Dispraxia Nuffield. Es necesario seguir investigando sobre la dispraxia verbal con el fin de alcanzar un consenso sobre la evaluación, el diagnóstico y la intervención en este trastorno. The purpose of this project was to develop a guide that included recommendations based on scientific evidence to improve the evaluation, diagnosis and intervention in cases of verbal dyspraxia in children. In order to facilitate the work of speech therapists and improve the care given to patients with this disorder. To this end, a bibliographic search was carried out in the Web of Science, Pubmed and Scopus databases. Articles from 2012 to 2022 on assessment, diagnosis and treatment of verbal dyspraxia were reviewed and a total of 9 articles were selected. The studies indicate that children diagnosed with verbal dyspraxia may present some early signs and describe different characteristics of this disorder, without reaching a consensus on them. Despite this, the articulatory, motor and segmental skills of children with possible verbal dyspraxia should be analyzed from a clinical and formal evaluation, using speech transcripts and employing quantitative measures. Speech therapy intervention methods that have proven effective in improving the skills of children with verbal dyspraxia and their maintenance are Integral Stimulation / Dynamic Temporal and Tactile Cueing (DTTC), Rapid Syllable Transition Treatment (ReST), Integrated Phonological Awareness Intervention and the Nuffield Dyspraxia Program. Further research on verbal dyspraxia is needed in order to reach a consensus on assessment, diagnosis, and intervention in this disorder.

Early diagnosis and dietary treatment do not prevent long-term complications, which mostly affect the central nervous system in classical galactosemia patients. The clinical outcome of patients is highly variable, and there is an urgent need for prognostic biomarkers. The aim of this study was first to increase knowledge on the natural history of classical galactosemia by studying a cohort of patients with varying geno- and phenotypes and second to study the association between clinical outcomes and two possible prognostic biomarkers. In addition, the association between abnormalities on brain MRI and clinical outcomes was investigated. Classical galactosemia patients visiting the galactosemia expertise outpatient clinic of the Amsterdam University Medical Centre were evaluated according to the International Classical Galactosemia guideline with the addition of an examination by a neurologist, serum immunoglobulin G N-glycan profiling and a brain MRI. The biomarkers of interest were galactose-1-phosphate levels and N-glycan profiles, and the clinical outcomes studied were intellectual outcome and the presence or absence of movement disorders and/or primary ovarian insufficiency. Data of 56 classical galactosemia patients are reported. The intellectual outcome ranged from 45 to 103 (mean 77 ± 14) and was, Patients with classical galactosemia frequently suffer from complications affecting the brain for which prognostic factors are lacking. In our cohort of classical galactosemia patients, we demonstrated a highly variable outcome, distinguished a subgroup of milder ‘variant patients’ and found an association between MRI abnormalities and lower intellectual outcomes and movement disorders., Graphical Abstract Graphical Abstract

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 4 years to 18 years, and their subtyping was proposed. The statistical analyses were carried out with the Chi square, the t-test and the correlation for the statistical differences, and with the Ward clustering method for subtyping. Results We found that there were 3.17 boys for one girl, all patients were characterized as slow, 47% were left-handers or ambidextrous, 36% and 26% had orofacial and verbal dyspraxia, respectively, 83% were found anxious, and 84% were described as being clumsy. Conclusions It appears from these results that a child with DCD expresses more than a single difficulty. Three subtypes emerged from the statistical analysis in this study: (1) clumsiness and other characteristics except language difficulties; (2) self-esteem and peer relation without clumsiness and language difficulties; (3) language difficulties and orofacial dyspraxia.

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. We also show that right Crus I volume correlates with left and total caudate nucleus volumes in affected KE members, and that right and total Crus I volumes predict the performance of affected members in non-word repetition and non-verbal orofacial praxis. Crus I also shows bilateral hypo-activation in functional MRI in the affected KE members relative to controls during non-word repetition. The association of Crus I with key aspects of the behavioural phenotype of this FOXP2 point mutation is consistent with recent evidence of cerebellar involvement in complex motor sequencing. For the first time, specific cerebello-basal ganglia loops are implicated in the execution of complex oromotor sequences needed for human speech. Electronic supplementary material The online version of this article (10.1007/s12311-018-0989-3) contains supplementary material, which is available to authorized users.

Gli scienziati hanno trovato un gene chiamato FOXP2 che sembra ad essere essenziale per la produzione del linguaggio. Quindi è spesso chiamato „il gene del linguaggio“. È probabilmente solo uno dei molti geni coinvolti nella comunicazione umana, ma recente scoperte sembravano sottolineare la sua importanza. Il fattore di trascrizione FOXP2 è stato implicato nell'evoluzione del cervello umano, linguaggio, cognizione, integrazione vocal-motoria e sviluppo neurale nel sistema nervoso centrale (CNS). La versione umana della proteina prodotta dal gene differisce di due aminoacidi da quella degli scimpanzé, e sembra di aver subito una selezione naturale. Negli anni successivi, FOXP2 è stato implicato nelle vocalizzazioni di altri animali, tra cui topi, uccelli canori e anche pipistrelli. Il gene FOXP2 è stato scoperto come risultato degli indagini su una famiglia inglese nota come famiglia KE con diversi membri affetti dalla disprassia verbale dello sviluppo accompagnata da un grave disturbo articolatorio. Questa famiglia KE è stata trovata portatrice di un allele mutato, ma c'è un altro individuo non correlato che è stato trovato portatore di una traslocazione bilanciata con una pausa in FOXP2. FOXP2 è il primo gene implicato in un disturbo delle vocalizzazioni e del linguaggio. Fin dalla sua scoperta, sono stati condotti molti studi dagli scienziati incuriositi, nel tentativo di spiegare il meccanismo con cui influenza questi tratti umani caratteristici e di identificare i geni regolati dal FOXP2. I ricercatori suggeriscono che FOXP2 potrebbe regolare sia lo sviluppo neurale del linguaggio, sia quello delle strutture anatomiche necessarie alla fonoarticolazione. Nelle pagine seguenti sarànno spiegate le caratteristiche del gene responsabile per la produzione del linguaggio, attraverso le differenze evolutive in sequenze del genoma e le proteine che sono specifici per l'uomo, la sua l'importanza per ill sistema nervoso, in particolare il cervello e attraverso le mutazioni geneticche che si traducono nei disturbi linguistici. Znanstvenici su pronašli gen koji je relevantan za govornu produkciju, a naziva se FOXP2. Taj takozvani "gen za jezik", vjerojatno je samo jedan od mnogih gena ključnih za ljudsku komunikaciju, međutim, nedavna otkrića naglašavaju njegov značaj. FOXP2 gen je transkripcijski faktor te ima vaţnu ulogu u evoluciji ljudskog mozga, jezika, spoznaje, vokalno-motorne integracije i neuralnog razvoja u središnjem ţivčanom sustavu - SŢS (ili CNS). Ljudska verzija proteina FOXP2 gena razlikuje se u dvije aminokiseline od čimpanza te je podvrgnuta prirodnoj selekciji. Tijekom godina, FOXP2 je postao čimbenik zasluţan za vokalizaciju drugih ţivotinja, uključujući miševe, ptice pjevice, pa čak i šišmiše. FOXP2 gen je otkriven kao rezultat istraţivanja engleske obitelji, poznate kao KE obitelj. Nekolicini članova KE obitelji dijagnosticirana je razvojna verbalna dispraksija, koja je popraćena s teškim artikulacijskim poremećajem. Otkriveno je da obitelj KE nosi mutirani alel. No, utvrđena je uravnoteţena translokacija s prekidom u FOXP2 u još jednog pojedinca, koji nije genetski povezan s obitelji KE. Kao rezultat toga, FOXP2 je postao prvi gen povezan s poremećajima govora i jezika. Otkrićem tog gena, mnogi znanstvenici provodili su istraţivanja nastojeći objasniti mehanizam s kojim utječe na ljude i ţeljeli su identificirati ostale gene koje FOXP2 regulira. Znanstvenici smatraju da FOXP2 moţe utjecati na neuralni razvoj jezika te na anatomske strukture potrebne za fonoartikulaciju. Na sljedećim stranicama, objašnjene su karakteristike gena odgovornog za govornu produkciju – FOXP2, i to preko evolucijskih razlika u sekvencijama genoma i proteina specifičnih za ljudska bića. Zatim, preko genetskih mutacija manifestiranih u jezične poremećaje i vaţnosti koju ima za ţivčani sustav, točnije za mozak. Scientists have found a gene called FOXP2 that seems to be essential for language production. Thus it is often called "the language gene". It is probably just one of many genes involved in human communication, but recent discoveries seemed to underline its importance. The transcription factor FOXP2 has been implicated in the evolution of the human brain, language, cognition, vocal-motor integration and neural development in the central nervous system (CNS). The human version of the protein produced by the gene differs from two amino acids from that of a chimpanzee, and seems to have undergone a natural selection. In later years, FOXP2 has been a great factor in the vocalizations of other animals, including mice, songbirds and even bats. The FOXP2 gene was discovered as a result of research on an English family known as the KE family with several members affected by developmental dyspraxia of speech accompanied by severe articulatory disorder. This KE family has been found to carry a mutated allele, but there is another unrelated individual who has been found to have a balanced translocation with a break in FOXP2. As a result, FOXP2 is the first gene involved in a disorder of vocalizations and language. Since its discovery, many studies have been conducted by intrigued scientists in an attempt to explain the mechanism by which it influences these characteristic human traits and to identify the genes regulated by FOXP2. The researchers suggest that FOXP2 could regulate both the neural development of language and the anatomical structures necessary for phonoarticulation. The following pages will explain the characteristics of the gene responsible for the production of language, through the evolutionary differences in sequences of the genome and proteins that are specific to humans, its importance for the nervous system, in particular, the brain and through mutations that translate into linguistic disorders isolated after genetic mutation. In the following pages, the characteristics of the gene responsible for the production of language will be explained, through the evolutionary differences in sequences of the genome and proteins that are specific to humans, its importance for the nervous system, more specifically, the brain and through genetic mutations that translate into linguistic disorders.

Mice produce ultrasonic vocalizations (USVs) in a variety of social situations, and USVs have been leveraged to study many neurological diseases including verbal dyspraxia, depression, autism and stuttering. Pups produce isolation calls, a common USV, spontaneously when they are isolated from their mother during the first 2 weeks of life. Several genetic manipulations affect (and often reduce) pup isolation calls in mice. To facilitate the use of this assay as a means of testing whether significant functional differences in genotypes exist instead of contextual differences, we test the variability inherent in many commons measures of mouse vocalizations. Here we use biological consistency as a way of determining which are reproducible in mouse pup vocalizations. We present a comprehensive analysis of the normal variability of these vocalizations in groups of mice, individual mice and different strains of mice. To control for maturation effects, we recorded pup isolation calls in the same group of C57BL/6J 5 days old mice twice, with 1 h of rest in between recordings. In almost all cases, the group averages between the first and second recordings were the same. We also found that there were high correlations in some parameters in individual mice across recording while others were not well correlated. These findings could be replicated for the majority of features in a separate group of C57BL/6J mice and a group of 129/SvEvBrd-C57BL/6J mice. The averages of these mouse USV features are highly consistent and represent a robust assay to test the effects of genetic and other interventions in the experimental setting.

FOXP2 gen je transkripcijski faktor iz obitelji FOX gena zadužen za regulaciju ekspresije mnogih drugih gena u organizmu. Smješten je na dugom kraku 7. kromosoma. Gen je prvotno otkriven proučavanjem engleske obitelji KE kod koje je više od polovice članova iskazivalo poteškoće u kontroliranju pokreta usana, razvojne dispraksije i sveobuhvatni deficit govora i pisanja. Na temelju ovih nalaza pretpostavljeno je da gen FOXP2 ima važnu ulogu u razvoju jezika i govora kod čovjeka; da je FOXP2 „gen za govor“. ----- Detaljnom analizom sekvence DNA i proteina FOXP2 uočeno je da se ljudska varijanta proteina razlikuje od mišje u samo tri, a od ostalih primata u samo dvije aminokiseline, što čini ovaj gen jednim od najbolje očuvanih gena tijekom evolucije. Nadalje, utvrđeno je da su se ove promjene specifične za čovjeka pojavile relativno nedavno (unutar posljednjih 200,000 godina) tijekom evolucije čovjeka te da je gen FOXP2 s pozitivnom selekcijom tijekom ljudske evolucije prošao proces ubrzane evolucije kod čovjeka. ----- Analizom ekspresije FOXP2 gena utvrđeno je da je prisutan u strukturama bitnim za motorički sustav (motorička moždana kora, bazalni gangliji, mali mozak) i u strukturama bitnim za jezik i govor (Brocino područje za govor, gornja sljepoočna vijuga). Iako postoje mnogi dokazi da poremećaji FOXP2 gena dovode do poremećaja govora kod čovjeka, novija istraživanja sugeriraju da FOXP2 ima mnogo šire učinke na organizam te da poremećaji govora nastaju samo kao sekundarna posljedica mutacije gena. Čini se da je osnovni problem povezivanja gena FOXP2 s razvojem govora u činjenici da se pokušava povezati multifunkcionalni gen s pleiotropnim učincima (mozak, pluća, crijeva) sa složenim fenotipom kao što je govor. Točna uloga gena FOXP2 u nastanku i razvoju govora do danas još uvijek nije poznata te je predmet mnogih znanstvenih istraživanja., FOXP2 gene is a transcriptional factor belonging to FOX family of genes responsible for regulation of expression of many other genes. It is situated on the long arm of 7th chromosome. The gene was first discovered during the study of English KE family of which more than half family members had difficulties with mouth control, developing dyspraxia and total speech and writing impairment. Based on these findings it was assumed that FOXP2 gene has a major role in the development of speech and language in humans making FOXP2 “a gene for speech”. ----- During detail analyses of the DNA sequence and the protein FOXP2 it was noted that human version of the protein differs from the mouse version in only 3 components, while the version of other primates differs from the human version in 2 components, which makes this gene very well preserved during evolution. Furthermore, it was proven that these human specific changes occurred relatively recently (over last 200,000 years) during human evolution, that FOXP2 is a gene with positive selection during human evolution and that it underwent a process of accelerated evolution in humans. ----- Analyses of the expression of FOXP2 gene brought evidences about its existence in structures which are an important part of the motoric system (motoric cortex, basal ganglia, cerebellum) and in the structures important for speech and language (Broca’s area and superior temporal gyrus). Although many evidences suggest that FOXP2 gene impairment leads to speech difficulties in humans, recent studies suggest that FOXP2 has a much wider effect and that the language impairment is only a secondary consequence of the mutation of this gene. It seems that the core problem of establishing the connection between the FOXP2 gene with the development of speech is the fact that multifunctional gene with pleiotropic effect is trying to be connected with complex fenotype which speech is. The exact role of FOXP2 gene in the development of speech is not established yet and it still is in focus of many scientific studies.

Interstitial deletions encompassing chromosome 16p13.3-13.2 are rarely described in the literature, whereas terminal deletions or duplications involving this region are slightly more frequently described. The authors describe a boy harboring a de novo 16p13.3-13.2 interstitial deletion, with intellectual disability, verbal dyspraxia, epilepsy, and a distinctive brain magnetic resonance finding, namely a nodular heterotopia. The authors found partial genotype–phenotype correspondences regarding epilepsy and intellectual disability, which have been associated with 16p1 region. Conversely, nodular heterotopia and verbal dyspraxia have not been clearly related to this region. These data are in agreement with the emerging concept that similar copy number variants may be the general risk factors for distinct disorders. Verbal dyspraxia, which has not responded to speech therapy, is the child’s most disabling trait. In view of the above, genetic studies should be appraised in cases of serious speech difficulties, especially if they are associated with intellectual disability and epilepsy.

Why do some children fail to acquire speech and language skills despite adequate environmental input and overtly normal neurological and anatomical development? It has been suspected for several decades, based on indirect evidence, that the human genome might hold some answers to this enigma. These suspicions have recently received dramatic confirmation with the discovery of specific genetic changes which appear sufficient to derail speech and language development. Indeed, researchers are already using information from genetic studies to aid early diagnosis and to shed light on the neural pathways that are perturbed in these inherited forms of speech and language disorder. Thus, we have entered an exciting era for dissecting the neural bases of human communication, one which takes genes and molecules as a starting point. In the current article I explain how this recent paradigm shift has occurred and describe the new vistas that have opened up. I demonstrate ways of bridging the gaps between molecules, neurons and the brain, which will provide a new understanding of the aetiology of speech and language impairments.

The current study analyzed possible relation between the dialogic interaction of the duo mother-child with praxic limitations and the exercise of maternal function. It tries, specifically, to categorize the types of dialogic interactions found, to analyze the interference or not of praxic limitation of children on the interpretation process by the mother and the reflexes of maternal function over the mother-child dialog. Five mother-child diad took part on the study, with the interaction of these duos being filmed, on which the play, the relation mother-child, as well the exercise of maternal function were filmed. Precarious bonds on the relation mother-child, difficulty on the exercise of maternal function, directive, intrusive or apathetic and away mothers were observed. For subjects, children of mothers that could evolve on the exercise of maternal function, cases which the bond had a significant improvement, it was observed a greater language evolution. The dialogic analyzes demonstrated that verbal dyspraxia doesn't prevent the interpretation process, it can only limit it. However, the exercise of maternal function seems to have a more important effect on the mother-child dialog.

This article describes the development of an intervention for Rory, a thirteen year old male student diagnosed with verbal dyspraxia. The intervention took place in a secondary classroom. The stages in which the consultant to the classroom engaged in the development and delivery of a short‐term intervention are presented. The intervention involved the use of visual cues as a scaffold to writing and the provision of immediate feedback through conferencing. The student was also encouraged to use self monitoring. The aim of the intervention was to improve writing skills, demonstrated by increased sentence length and complexity. Significant progress was made by the student during the trial of the intervention. The process used by the consultant ‐ examining the situation and developing an intervention to specifically match the need of the student, has the potential to provide a model for those engaged in the development of responsive intervention in inclusive settings.

Objective: To describe specific language impairment in four children with velocardiofacial syndrome (VCFS).Design: A descriptive, retrospective study of four cases.Setting: University Hospital Groningen, tertiary clinical care.Patients: Of 350 patients with cleft plate, 18 children were diagnosed with VCFS. Four children are described.Interventions: In all children, cardiac and plastic surgery was carried out in the first year of life. Afterward, interventions consisted of hearing improvement, pharyngoplasty, and speech therapy.Main Outcome: Inadequate and uncharacteristic development of articulation and expressive language in four children with VCFS were observed. They differed from the majority in two ways: their nonverbal 10 was in the normal range, and their language skills were below expectations for their IQ.Results: Four of 18 patients with VCFS (22%) showed poor response to therapy and did not develop language in accordance with their normal learning abilities (nonverbal learning capacities and language comprehension). Persistent hypernasal resonance and severe articulation problems remained in all four children. In two children the expressive language profile was also not in agreement with the nonverbal profile: they produced only two- and three-word utterances at the age of 6.0 and 5.3 years. The other two children at the age of 6.8 and 6.4 years produced very long sentences, but they were unintelligible.Conclusions: The speech and language impairment of the four children may be characterized as a phonological or verbal programming deficit syndrome and as such can be described as a specific language impairment in conjunction with VCFS.

Introdução: A articulação da fala é um dos aspectos fonoaudiológicos mais comprometidos na doença de Parkinson (DP). Pacientes com DP apresentam risco de manifestar apraxia não verbal e verbal. A apraxia não verbal ocorre quando há um déficit na habilidade de sequencialização dos movimentos voluntários não verbais da língua, lábios, mandíbula e outras estruturas orofaciais associadas, e a apraxia verbal é definida como um déficit na habilidade de sequencializar os controles motores necessários para o posicionamento correto dos articuladores durante a produção voluntária da fala. A prevalência com que apraxia da fala ocorre na DP não está bem estabelecida, sendo um distúrbio pouco explorado nesses pacientes. É um estudo inédito, até onde temos conhecimento, quanto à identificação dos erros práxicos verbais na DP. Objetivo: avaliar a prevalência da praxia não verbal e verbal em pacientes com doença de Parkinson, correlacionandoas com idade, escolaridade, tempo de doença e estadiamento da DP (Hoehn e Yahr), assim como correlacionar a apraxia não verbal com a apraxia verbal e identificar os erros práxicos verbais. Método: Estudo quantitativo, observacional, descritivo e de prevalência. Foram avaliados 45 pacientes acometidos pela DP, que realizaram seguimento clínico no ambulatório de Distúrbios do Movimento do Hospital de Clínicas de Porto Alegre, Brasil, através da aplicação do Protocolo de Avaliação da Apraxia da Fala, e o estadiamento da DP foi controlado através da escala de Hoehn e Yahr (H&Y). Resultados: A prevalência de apraxia não verbal e verbal nos pacientes com DP foi de 24,4%. Não houve significância entre apraxia não verbal com idade, escolaridade, tempo de doença, estadiamento da DP (H&Y) e gênero. A correlação entre apraxia verbal e escolaridade foi significante (p≤0,05), mas não houve significância com idade, tempo de doença, estadiamento da DP (H&Y) e gênero. Os tipos de erros práxicos verbais mais frequentes foram as omissões (70,8%). Quanto ao ponto e modo articulatório os fonemas mais alterados foram os dentoalveolares (92%) e os vibrantes (57,7%), consecutivamente. Conclusão: Os pacientes com DP apresentaram apraxia não verbal e verbal com manifestação de muitos erros práxicos verbais, estando a apraxia verbal correlacionada com a escolaridade. Introduction: The speech articulation is one of the aspects most impaired in Parkinson's disease (PD). Patients PD present risk of expressing nonverbal and verbal apraxia. The nonverbal apraxia occurs when there is a deficit in the sequencing ability of nonverbal voluntary movements of the tongue, lips, jaw and other associated orofacial structures, while the verbal apraxia is defined as a deficit in the ability of sequencing the necessary motor controls in order to place the articulators correctly during the voluntary speech production. The predominance with which apraxia of speech occurs in PD is not well established and rarely explored in these patients. As far as we know, it is an unprecedented study regarding the identification of verbal praxic errors in PD. Objective: To assess the prevalence of nonverbal and verbal apraxia in patients with Parkinson's disease, correlating them with age, education, duration of disease and PD stage (Hoehn e Yahr), as well as to correlate nonverbal with verbal apraxia and identify the verbal praxic errors. Method: Quantitative, observational, descriptive and prevalence study. Forty-five patients with PD were evaluated. They were submitted to the clinical follow-up in the Movement Disorders Clinic of the Cinical Hospital of Porto Alegre, Brazil, through the application of the Speech Apraxia Assessment Protocol. Additionally, the PD stage was controlled through the Hoehn and Yahr scale (H&Y). Results: The prevalence of nonverbal and verbal apraxia in patients with PD was 24.4%. There was no significance between the nonverbal apraxia with age, education, duration of disease, PD stage (H&Y), and genre. The correlation between verbal apraxia and education was significant (p ≤ 0.05), but there was no significance with age, duration of disease, PD stage (H&Y) and genre. Omissions were the most frequent kinds of verbal praxic errors with (70.8 percent). Regarding the place and mode of articulation, the most changed phonemes were the dentoalveolar (92%)and the vibrants (57.7%), consecutively. Conclusion: Patients with PD presented nonverbal and verbal apraxia with manifestation of many verbal praxic errors and verbal apraxia correlated with education levels.

In spite of adequate dietary regimen, many patients with galactosemia have developmental abnormalities. We studied 8 patients with galactosemia, aged 9 months to 19 years who had all been treated with a galactose-free diet from an early stage. Neurological functioning, general developmental, and language and speech development were assessed in all cases. The results show that even medically well treated children and young adults with galactosemia are at risk to develop disabilities, including mental retardation, speech and language disabilities. Verbal dyspraxia was diagnosed in 3 of 6 patients, who had acquired verbal language, all with IQ 70 or below. This may indicate that verbal dyspraxia is just one symptom among others in patients with galactosemia and mental retardation.

The idea of developmental dyspraxia has been discussed in the research literature for almost 100 years. However, there continues to be a lack of consensus regarding both the definition and description of this disorder. This paper presents a neuropsychologically based operational definition of developmental dyspraxia that emphasizes that developmental dyspraxia is a disorder of gesture. Research that has investigated the development of praxis is discussed. Further, different types of gestural disorders displayed by children and different mechanisms that underlie developmental dyspraxia are compared to and contrasted with adult acquired apraxia. The impact of perceptual-motor, language, and cognitive impairments on children's gestural development and the possible associations between these developmental disorders and developmental dyspraxia are also examined. Also, the relationship among limb, orofacial, and verbal dyspraxia is discussed. Finally, problems that exist in the neuropsychological assessment of developmental dyspraxia are discussed and recommendations concerning what should be included in such an assessment are presented.

This paper discusses the relationship between the dysarthrias and verbal dyspraxia in adults and children, and examines these conditions with reference to current theories and a model. The empirical basis for the study described here was the examination in depth of the speech of six subjects, each of whom presented with neurological disorders of different origins: two adults, chosen to exemplify the acquired conditions of dysarthria and dyspraxia, and four children. The speech analyses used profiling techniques of segmental phonological and prosodic assessment, and electropalatographic (EPG) examination, and the profiles thus obtained were compared between subjects and across client groups. The hypothesis was that in-depth analyses would provide distinguishing characteristics between the two neurological conditions, such that the children with suspected developmental verbal dyspraxia would demonstrate differences from those with developmental dysarthria, and clear similarities to the dyspraxic adult. The ...

This paper discusses the relationship between the dysarthrias and verbal dyspraxia in school-aged children. Using perceptual profiling and instrumental (electropalatographic) techniques, the speech of a small subject group was analysed in depth, in order to compare the two neurological conditions. The aim of the study was to provide distinguishing characteristics between the conditions. The rationale for the conclusion from the study is examined in relation to clinical implications.

Patients with classic galactosemia, an inborn error of metabolism, have speech and language production impairments. Past research primarily focused on speech (motor) problems, but these cannot solely explain the language impairments. Which specific deficits contribute to the impairments in language production is not yet known. Deficits in semantic and syntactic planning are plausible and require further investigation. In the present study, we examined syntactic encoding while patients and matched controls overtly described scenes of moving objects using either separate words (minimal syntactic planning) or sentences (sentence-level syntactic planning). The design of the paradigm also allowed tapping into local noun phrase- and more global sentence-level syntactic planning. Simultaneously, we recorded event-related potentials (ERPs). The patients needed more time to prepare and finish the utterances and made more errors. The patient ERPs had a very similar morphology to that of healthy controls, indicating overall comparable neural processing. Most importantly, the ERPs diverged from those of controls in several functionally informative time windows, ranging from very early (90-150 ms post scene onset) to relatively late (1820-2020 ms post scene onset). These time windows can be associated with different linguistic encoding stages. The ERP results form the first neuroscientific evidence for language production impairments in patients with galactosemia in lexical and syntactic planning stages, i.e., prior to the linguistic output phase. These findings hence shed new light on the language impairments in this disease.

Objective To describe specific language impairment in four children with velocardiofacial syndrome (VCFS). Design A descriptive, retrospective study of four cases. Setting University Hospital Groningen, tertiary clinical care. Patients Of 350 patients with cleft plate, 18 children were diagnosed with VCFS. Four children are described. Interventions In all children, cardiac and plastic surgery was carried out in the first year of life. Afterward, interventions consisted of hearing improvement, pharyngoplasty, and speech therapy. Main Outcome Inadequate and uncharacteristic development of articulation and expressive language in four children with VCFS were observed. They differed from the majority in two ways: their nonverbal IQ was in the normal range, and their language skills were below expectations for their IQ. Results Four of 18 patients with VCFS (22%) showed poor response to therapy and did not develop language in accordance with their normal learning abilities (nonverbal learning capacities and language comprehension). Persistent hypernasal resonance and severe articulation problems remained in all four children. In two children the expressive language profile was also not in agreement with the nonverbal profile: they produced only two- and three-word utterances at the age of 6.0 and 5.3 years. The other two children at the age of 6.8 and 6.4 years produced very long sentences, but they were unintelligible. Conclusions The speech and language impairment of the four children may be characterized as a phonological or verbal programming deficit syndrome and as such can be described as a specific language impairment in conjunction with VCFS.

Purpose: This study evaluates a genotype/phenotype relationship between developmental verbal dyspraxia (DVD) and the common, missense mutation of the galactose-l-phosphate uridyltransferase gene, Q188R, in patients with classic galactosemia (G/G). Methods: As part of this study, we devised a questionnaire for “speech problems” to be completed by the patient's clinician. To validate the questionnaire and determine its accuracy in detecting DVD, we analyzed questionnaire responses for 21 patients by testing them independently and directly for DVD through a speech pathologist blinded to the patients' genotype. Results: We found that the questionnaire had a sensitivity of 0.56 and a specificity of 0.75. We then calculated the prevalence of DVD for a larger set of 113 patients with G/G galactosemia whose biochemical phenotype, molecular genotypes, and clinical status were known. The prevalence of “speech problems” from raw data were 50 of 113 (44.2%). After adjusting for misclassification, 43 (38.1%) were classified as cases of DVD. Using multivariate, logistic, regression analyses we found a significant interaction between genotype and mean red blood cell (RBC) galactose-1-phosphate (Gal-1-P). When corrected, using mean RBC Gal-1-P > 3.28 mg%, the Q188R/Q188R genotype was the best predictor of DVD. There was a significant risk (odds ratio = 9.6, p = 0.0504) of having DVD associated with homozygosity for Q188R compared with other genotypes. Conclusions: We conclude that homozygosity for Q188R mutations in the GALT gene is a significant risk factor for DVD. However, poor metabolic control obviates this relationship as indicated by RBC Gal-1-P greater than 3.28 mg%.

Speech/language disorders are common in the fragile X syndrome. [Howard-Peebles, 1979: Am J Hom Genet 31:214-222; Renier et al., 1983: J Ment Defic Res 27:51-59; Sparks, 1984: Birth Defects and Speech-Language Disorders, pp. 39-43; Hanson et al., 1986: Am J Med Genet 23:195-206]. Verbal paraphasias have been considered a rare feature and word-finding difficulties have seldom been reported. Here we report on ten Brazilian patients who were evaluated for speech/language disturbances and found that word-finding difficulties were present in 50% of the cases, which is a slightly higher frequency than that of clear dyspraxia. We suggest, therefore, that word-finding difficulties and verbal dyspraxia can be a common feature within the spectrum of this syndrome. Additional speech findings are discussed.

Developmental verbal dyspraxia is examined from four perspectives: clinical, phonetic, linguistic and cognitive. The paper critically discusses the problems encountered when criteria for identifying acquired speech disorders in the adult population are applied to children's speech difficulties without modifications. It is argued that studies of verbal dyspraxia in children have ignored the unfolding nature of this condition and that a developmental perspective has been lacking in the literature. A need for the inclusion of appropriate control groups and longitudinal case studies is identified. The issue and process of differential diagnosis are addressed and a checklist of criteria for identifying developmental verbal dyspraxia is included. It is noted that this process will inevitably be lengthy with data needed from different aspects of a child's development. Phonetic characteristics alone may not be sufficient to recognise this medical condition with its complex psycholinguistic and educational consequences.

The relationship between oral-stereognosis (O.S.) and the nature and severity of verbal dyspraxia was investigated in 16 post-C.V.A. dyspraxic patients. Scores for oral stereognosis were correlated with — (1) repetition of sounds and sentences in the Mayo Clinic Test of Verbal Dyspraxia (Darley, 1975); (2) words and phrases from Speech and Language Disturbances subtest of the Minnesota Test of Differential Diagnosis and Aphasia. In addition, subjects were assigned to one of four groups depending upon their presenting verbal symptoms, i.e., substitution; substitution and perseveration; substitution and initiation; and substitution, perseveration and initiation. Results indicated that O.S. scores correlated highly with the sounds and phrases subtests as well as with errors of substitution providing that the subject did not exhibit difficulties on initiation. Results were discussed in terms of the possible locus of brain lesion. Low scores on the O.S. test may indicate lesions to the post central kinesthetic...

It is our clinical experience that in a number of aphasics, a distinctive articulatory disorder is found in the absence of the observable paralysis or paresis of the speech musculature. The term “motor aphasia” or “Broca's aphasia” has generally been applied to designate this type of disorder.The studies in recent years, however, have disclosed that this kind of disorder, a disorder of programming and executing articulatory movements (verbal apraxia or apraxia of speech), can be distinguished from the disorder of symbolic processes, i. e. aphasia.In this paper, the characteristics of verbal apraxia were described as well as the methods of testing oral and verbal apraxias. The therapy methods of verbal apraxia were reviewed with a special emphasis on the works done by Luria, et al..It was suggested that verbal apraxia, though a clearly definable clinical entity, might not be a homogeneous disorder. More comprehensive investigation of the nature of this disorder will be necessary before we can set up more systematic therapeutic procedures.

The instrumental techniques of electropalatography and pneumotachography are used to examine details of tongue-palate contacts and VOT characteristics of three adult male subjects: two described as dysarthric and one as dyspraxic. A comparison is made between the subjects, and the results are compared with data from four normal speakers. The information is considered with reference to the neurological bases of these disorders of speech, and the advantages of an instrumental investigation over traditional auditory based assessments are exemplified. Some implications for therapy are also considered.

In 1861 Paul Broca described his patient “Tan” as having lost “the memory for the procedure one has to follow in order to articulate words”. This condition he called aphemia but subsequently it became known as Broca’s aphasia. Broca described a disorder in which the patient could understand spoken language, ideas were intact and he could recognize words and phrases which he could not pronounce nor repeat. Subsequent autopsy of Tan’s brain revealed a lesion in the area of the third convolution of the frontal left lobe (later designated Broca’s area). The features of this disorder parallel some of those associated with what later on became known as dyspraxia of speech or verbal dyspraxia. By annexing the word aphasia to Broca’s name a linguistic as against motoric connotation was apparent and this sparked off a volley of controversy which has been maintained with fervour ever since.