Indicadores tempranos de dispraxia verbal en el inicio tardío: orientaciones para la intervención / Early indicators of childhood apraxia of speech in late talkers: general guidelines to intervention

Resumen Introducción : La población de niños que comienzan con lentitud el desarrollo del lenguaje varía amplia mente, tanto en su perfil inicial como en la respuesta a la intervención. En este sentido, existe un grupo de niños, denominados hablantes tardíos, que continúan mostrando dificultades persistentes en el lenguaje. Al gunos de estos niños muestran signos compatibles con la dispraxia verbal, y que se ponen de manifiesto a lo largo de la intervención. Método : En este trabajo presentamos la diferente respuesta a la intervención de dos perfiles de hablante tardío. Concretamente, se aplicó el programa Target Word©, del centro Hanen, que conjuga la técnica de la estimulación focalizada con la orientación a padres so bre estrategias que promueven el desarrollo del lenguaje. Resultados : Gran parte de la sintomatología mostrada en uno de los dos casos, que experimentó un progreso pobre, coincide con las descripciones retrospectivas de niños posteriormente diagnosticados con dispraxia y pueden considerarse indicadores tempranos del trastor no: ininteligibilidad, inventario consonántico reducido o dificultades en la repetición de palabras. Discusión : La diferente respuesta a la intervención contribuye a la toma de decisiones diagnósticas y a la aplicación temprana de estrategias específicas para la mejora de las habilidades de aprendizaje del habla me diante la incorporación de los principios del aprendizaje motor. Los escasos estudios de intervención en casos de sospecha de dispraxia verbal en la infancia temprana ofrecen resultados prometedores en diversos indicadores de evaluación del habla, y proporcionan a los profesio nales una información valiosa en la que fundamentar la intervención en esta población.

Abstract Introduction : The population of children with slow emergence of language development varies widely, both in their initial profile and in their response to interven tion. In this sense, there is a group of late talkers who continue to show persistent language difficulties, in some cases exhibiting signs compatible with verbal dyspraxia. Method : In this paper we present the different response to intervention of two profiles of late talk ers. Specifically, the Target Word© program (Hanen Centre) was implemented, which is addressed to late-talking children and their families. It combines the technique of focused stimulation with guidance to parents on strategies that stimulate global language development. Results : Much of the symptomatology shown in one case of poor progress coincides with retrospective de scriptions of children subsequently diagnosed with dyspraxia and can be considered early indicators of the disorder: unintelligibility, reduced consonant inventory or difficulties in word repetition. Discussion : The different response to intervention contributes to diagnostic decision making and the early implementation of specific strategies directed to improve speech learning skills by incorporating motor learning principles. The few studies of intervention in suspected verbal dyspraxia in early childhood offer promising re sults on a variety of speech assessment indicators, and provide practitioners with valuable information with which to support the intervention in this population.

[Early indicators of childhood apraxia of speech in late talkers: general guidelines to intervention]. / Indicadores tempranos de dispraxia verbal en el inicio tardío: orientaciones para la intervención Inmaculada.

INTRODUCTION: The population of children with slow emergence of language development varies widely, both in their initial profile and in their response to intervention. In this sense, there is a group of late talkers who continue to show persistent language difficulties, in some cases exhibiting signs compatible with verbal dyspraxia. METHOD: In this paper we present the different response to intervention of two profiles of late talkers. Specifically, the Target Word© program (Hanen Centre) was implemented, which is addressed to latetalking children and their families. It combines the technique of focused stimulation with guidance to parents on strategies that stimulate global language development. RESULTS: Much of the symptomatology shown in one case of poor progress coincides with retrospective descriptions of children subsequently diagnosed with dyspraxia and can be considered early indicators of the disorder: unintelligibility, reduced consonant inventory or difficulties in word repetition. DISCUSSION: The different response to intervention contributes to diagnostic decision making and the early implementation of specific strategies directed to improve speech learning skills by incorporating motor learning principles. The few studies of intervention in suspected verbal dyspraxia in early childhood offer promising results on a variety of speech assessment indicators, and provide practitioners with valuable information with which to support the intervention in this population.

Introducción: La población de niños que comienzan con lentitud el desarrollo del lenguaje varía ampliamente, tanto en su perfil inicial como en la respuesta a la intervención. En este sentido, existe un grupo de niños, denominados hablantes tardíos, que continúan mostrando dificultades persistentes en el lenguaje. Algunos de estos niños muestran signos compatibles con la dispraxia verbal, y que se ponen de manifiesto a lo largo de la intervención. Método: En este trabajo presentamos la diferente respuesta a la intervención de dos perfiles de hablante tardío. Concretamente, se aplicó el programa Target Word©, del centro Hanen, que conjuga la técnica de la estimulación focalizada con la orientación a padres sobre estrategias que promueven el desarrollo del lenguaje. Resultados: Gran parte de la sintomatología mostrada en uno de los dos casos, que experimentó un progreso pobre, coincide con las descripciones retrospectivas de niños posteriormente diagnosticados con dispraxia y pueden considerarse indicadores tempranos del trastorno: ininteligibilidad, inventario consonántico reducido o dificultades en la repetición de palabras. Discusión: La diferente respuesta a la intervención contribuye a la toma de decisiones diagnósticas y a la aplicación temprana de estrategias específicas para la mejora de las habilidades de aprendizaje del habla mediante la incorporación de los principios del aprendizaje motor. Los escasos estudios de intervención en casos de sospecha de dispraxia verbal en la infancia temprana ofrecen resultados prometedores en diversos indicadores de evaluación del habla, y proporcionan a los profesionales una información valiosa en la que fundamentar la intervención en esta población.

Homozygous Mutations in Thyroid Peroxidase (TPO) in Hypothyroidism with Intellectual Disability, Developmental Delay, and Hearing and Ocular Anomalies in Two Families: Severe Manifestation of Untreated TPO-deficiency Poses a Diagnostic Dilemma.

Intellectual disability (ID) involves compromised intellectual, learning and cognitive skills, and behavioral capabilities with reduced psychomotor skills. One of the preventable causes of ID is congenital hypothyroidism (CH), which may be due to biallelic mutations in thyroid peroxidase (TPO). In low- and middle-income countries with no newborn screening programs, CH poses a great risk of ID and long-term morbidity. We report two large Pakistani families with a total of 16 patients afflicted with CH. Detailed clinical and behavioral assessments, SNP-based homozygosity mapping, linkage analysis, and exome sequencing were performed. Initially, affected individuals were referred as suffering ID (in 11 of 16 patients) and developmental delay (in 14). Secondary/associated features were verbal apraxia (in 13), goiter (in 12), short stature (in 11), limb hypotonia (in 14), no pubertal onset (five of 10 of age ≥14 years), high myopia (in eight), muscle cramps (in six), and in some, variable microcephaly and enuresis/encopresis, fits, chronic fatigue, and other behavioral symptoms, which are not characteristics of CH. Molecular genetic analyses led to the discovery of homozygous variants in TPO: novel missense variant c.719A>G (p.Asp240Gly) in family 1 and rare c.2315A>G (p.Tyr772Cys) in family 2. In low-resource countries where neonatal screening programs do not include a CH test, the burden of neurodevelopmental disorders is likely to be increased due to untreated CH. Secondly, in the background of the high prevalence of recessive disorders due to high parental consanguinity, the severe manifestation of TPO-deficiency mimics a wide range of neurological and other presentations posing a diagnostic dilemma.

Apraxia of Speech in the Spontaneous Speech of Nonfluent/Agrammatic Primary Progressive Aphasia.

Background: Apraxia of speech (AOS) is a core feature of nonfluent/agrammatic primary progressive aphasia (naPPA), but its precise characteristics and the prevalence of AOS features in spontaneous speech are debated. Objective: To assess the frequency of features of AOS in the spontaneous, connected speech of individuals with naPPA and to evaluate whether these features are associated with an underlying motor disorder such as corticobasal syndrome or progressive supranuclear palsy. Methods: We examined features of AOS in 30 patients with naPPA using a picture description task. We compared these patients to 22 individuals with behavioral variant frontotemporal dementia and 30 healthy controls. Each speech sample was evaluated perceptually for lengthened speech segments and quantitatively for speech sound distortions, pauses between and within words, and articulatory groping. We compared subgroups of naPPA with and without at least two features of AOS to assess the possible contribution of a motor impairment to speech production deficits. Results: naPPA patients produced both speech sound distortions and other speech sound errors. Speech segmentation was found in 27/30 (90%) of individuals. Distortions were identified in 8/30 (27%) of individuals, and other speech sound errors occurred in 18/30 (60%) of individuals. Frequent articulatory groping was observed in 6/30 (20%) of individuals. Lengthened segments were observed rarely. There were no differences in the frequencies of AOS features among naPPA subgroups as a function of extrapyramidal disease. Conclusion: Features of AOS occur with varying frequency in the spontaneous speech of individuals with naPPA, independently of an underlying motor disorder.

Barcelona scale for buccophonatory apraxia: Quantitative assessment tool.

INTRODUCTION: Currently there is no tool to quantify buccophonatory apraxia to stratify, compare and monitor patients longitudinally in an objective manner. Our aim in this study is to create a quantitative scale for buccophonatory apraxia and evaluate it in patients with the non-fluent/grammatical variant of primary progressive aphasia (nfvPPA) and other neurodegenerative diseases that occur with speech and/or language problems. METHODS: The scale was designed based on useful elements in the assessment of buccophonatory apraxia and the total was quantified in seconds. The scale was administered to 64 participants with diagnoses of: nfvPPA, semantic variant of primary progressive aphasia (svPPA), logopenic variant of primary progressive aphasia (lvPPA), Huntington's disease, Parkinson's disease, as well as a group of healthy controls. RESULTS: Patients showed a significantly higher score compared to controls. The nfvPPA group had the highest mean score on the scale (429 seconds ± 278). The scale was useful to differentiate vnfPPA from svPPA and Parkinson's disease (area under curve [AUC] of 0.956 and 0.989, respectively), but less to differentiate it from Huntington's disease (AUC = 0.67) and lvPPA. There was a statistically significant relationship between total score and disease severity in nfvPPA (P < .029). CONCLUSIONS: The Barcelona scale for buccophonatory apraxia could be useful to quantitatively evaluate buccophonatory apraxia in different neurodegenerative diseases, and compare patients, especially in nfvPPA.

Tradução e adaptação transcultural do protocolo Kaufman Speech Praxis Test for Children (KSPT) / Translation and cross-cultural adaptation of the Kaufman Speech Praxis Test for Children (KSPT) protocol

RESUMO Objetivo Apresentar o instrumento Kaufman Speech Praxis Test for Children - KSPT, bem como sua adaptação transcultural para o Brasil. Método Após a permissão de utilização do KSPT pela detentora dos direitos autorais, e cumprimento dos aspectos éticos, o instrumento foi traduzido e adaptado para o português brasileiro, com manutenção de equivalências semântica, idiomática, experimental e conceitual, quando pertinente. Resultados Após procedimentos de tradução e adaptação transcultural, não houve mudanças na Parte 1 (Nível de movimento oral); na Parte 2 (Nível silábico e fonêmico simples), 12 palavras-teste foram excluídas e 16 incluídas; e na Parte 3 (Nível silábico e fonêmico complexo), 13 palavras-teste foram excluídas por não apresentarem correspondência em relação às características de produção fonoarticulatória (fonético/fonológico) no Português Brasileiro. Na parte 4 (Extensão e complexidade espontânea - medida subjetiva) não houve alterações da versão em inglês do KSPT. Após todo o processo o material final foi aprovado pela autora e aplicado em crianças para a verificação da usabilidade e verificação de equivalências. A aplicação em população significativa no Brasil para a construção de critérios psicométricos será realizada em etapa futura. Conclusão A tradução do KSPT está finalizada com mudanças em palavras-teste do protocolo de aplicação, para respeitar as características transculturais da língua portuguesa falada no Brasil. Foram respeitadas as equivalências semântica, idiomática, experimental e conceitual, no manual de aplicação, guia de teste clínico e nos enunciados das provas. Espera-se que este instrumento integre avanços para o diagnóstico e acompanhamento de procedimentos de intervenção, trazendo uma contribuição efetiva para esta área.

ABSTRACT Purpose To present the Kaufman Speech Praxis Test for Children - KSPT instrument, as well as its Brazilian cross-cultural adaptation. Methods After obtaining permission to use the KSPT by the copyright holder, and compliance with ethical aspects, the instrument was translated and adapted into Brazilian Portuguese, preserving semantic, idiomatic, experimental and conceptual equivalences, when relevant. Results After translation and cross-cultural adaptation procedures, there were no changes in Part 1 (Oral movement); in Part 2 (Simple Phonemic and Syllabic Level), 12 test words were excluded and 16 were included; and in Part 3 (Complex Phonemic and Syllabic Level), 13 test words were excluded as they failed to correspond to the characteristics of phonoarticulatory production (phonetic/phonological) in Brazilian Portuguese. In part 4 (Spontaneous Length and Complexity - subjective measure) there were no changes to the English version of the KSPT. After the process, the final version of the material was approved by the author and applied to children for usability and equivalences check. The application to a significant population in Brazil for the construction of psychometric criteria will be carried out at a future stage. Conclusion The KSPT translation is completed with changes in test words from the application protocol to respect the cross-cultural characteristics of the Brazilian-Portuguese language. Semantic, idiomatic, experimental and conceptual equivalences were respected throughout the application manual, clinical test guide and test statements. This instrument is expected to integrate advances in the diagnosis and monitoring of intervention procedures, effectively contributing to the area.

Brain areas impaired in oral and verbal apraxic patients.

BACKGROUND: As both oral and verbal apraxia are related to vocal orofacial musculature, this study aimed at identifying brain regions impaired in cases with oral and verbal apraxia. METHODS: In this non-experimental study, 46 left brain damaged subjects (17 females) aged 23-84 years, were examined by oral and verbal apraxia tasks. Impaired and spared Broca's area, insula, and middle frontal gyrus in the left hemisphere were checked from magnetic resonance imaging and computed tomography scans utilizing Talairach Atlas. Data were analyzed using chi-square test. RESULTS: Insula was significantly impaired in both forms of oral and verbal apraxia and different severities and prominent forms of both apraxias (P < 0.05). Broca's area was slightly less involved than insula in two forms of apraxia. CONCLUSION: As the damage of insula was more prominent in both forms of apraxias, it seems that oral and verbal apraxia may have commonalities regarding their underlying brain lesions.