Speech-Language Disorders in 22q11.2 Deletion Syndrome: Best Practices for Diagnosis and Management.

Purpose Speech and language disorders are hallmark features of 22q11.2 deletion syndrome (22qDS). Learning disabilities, cognitive deficits, palate abnormalities, velopharyngeal dysfunction, behavioral differences, and various medical and psychiatric conditions are also major features of this syndrome. The goal of this document is to summarize the state of the art of current clinical and scientific knowledge regarding 22qDS for speech-language pathologists (SLPs) and provide recommendations for clinical management. Method Best practices for management of individuals with 22qDS were developed by consensus of an expert international group of SLPs and researchers with expertise in 22qDS. These care recommendations are based on the authors' research, clinical experience, and literature review. Results This document describes the features of 22qDS as well as evaluation procedures, treatment protocols, and associated management recommendations for SLPs for the often complex communication disorders present in this population. Conclusion Early diagnosis and appropriate management of speech-language disorders in 22qDS is essential to optimize outcomes and to minimize the long-term effects of communication impairments. Knowledge of this diagnosis also allows anticipatory care and guidance regarding associated features for families, health care, and educational professionals.

Phonemic verbal fluency is associated with pediatric anxiety disorders: evidence from a community study.

BACKGROUND: Anxiety disorders typically begin in childhood and adolescence and predict risk for many problems throughout life. Although some neuropsychological correlates have been described, more research is needed, particularly in adolescents. This study compares neurocognitive characteristics of anxious adolescents with and without comorbidity to externalizing disorders to those of typically developing comparison (TDC) adolescents and adolescents with externalizing disorders alone. METHODS: The study included 57 adolescents 12-18 years of age (TDC, n=23; anxiety, n=16; externalizing, n=11; comorbid, n=7). We used a neuropsychological battery to assess eight domains: Orientation, attention, visual perception, memory, arithmetic, language, praxis, and executive function. RESULTS: Multivariate analysis of variance revealed a main effect of group in the neurocognitive domains evaluated (F8,48=2.32, p=0.034, ηp(2)=0.279). Post-hoc analysis revealed that executive functions score differed among groups, specifically in the task of verbal fluency (F[df=3]=5.01, p=0.004, ηp(2)=0.221), with both the anxious groups (anxiety and comorbid) presenting a lower score than the TDC and externalizing groups. This effect was independent of age, intelligence, and levels of education. CONCLUSIONS: Verbal fluency is specifically impaired in adolescents with anxiety disorders. This extends results from neuroimaging research implicating prefrontal areas in pediatric anxiety disorder neurobiology, and has potential implications to new therapeutics.

Risk factors identification in children with speech disorders: pilot study / Identificacao dos fatores de risco em criancas com alteracao fonoaudiologica: estudo piloto / Identificacao dos fatores de risco em criancas com alteracao fonoaudiologica: estudo piloto

PURPOSE: To identify the main risk factors related to children and their parents, associated with speech and language disorders. METHODS: A prospective descriptive study conducted with 170 children and their parents assisted at a school clinic in the period between March 2010 and July 2012. A protocol was developed for this study in order to identify risk factors for language and speech disorders. Data were tabulated and analyzed using descriptive and inferential statistics by the Χ2 and Student' s t-test . RESULTS: The demographic profile is composed of male children aged between 4 and 5 years old, ethnicity declared by parents as being white, residents of the western region of the city of São Paulo, and whose parents had completed high school. The factors related to family and considered as risks for language impairment were being an only child and having a family history of speech and language disorders. As for the children' s health, prematurity, hospitalization for a long period, and the presence of deleterious oral habits were also considered as risk factors. CONCLUSION: The protocol allows establishing the main risk factors related to children with speech and language disorders. It is suggested that children who present with one or more of the aforementioned risk factors should be regularly monitored for speech and language development and, if necessary, referred for early intervention. .

OBJETIVO: Identificar os principais fatores de risco relacionados à criança e seus pais associados às alterações fonoaudiológicas. MÉTODOS: Trata-se de um estudo descritivo e prospectivo realizado com 170 crianças e seus respectivos pais atendidas em uma clínica-escola no período de março de 2010 a julho de 2012. Utilizou-se o Protocolo para identificação de fatores de risco para a alteração de linguagem e fala, desenvolvido para este estudo. Os dados foram tabulados e submetidos à análise descritiva e inferencial por meio do Χ2 e Teste t de Student. RESULTADOS: O perfil sociodemográfico é de crianças do gênero masculino, com quatro e cinco anos de idade, da raça declarada branca, moradores da região Oeste da cidade de São Paulo e cujos pais tinham ensino médio completo. Os fatores relacionados à família considerados de risco para a alteração de linguagem foram ser filho único e ter antecedentes familiares. Quanto à saúde da criança, a prematuridade, internações por longo período e presença de hábitos orais deletérios também foram considerados fatores de risco. CONCLUSÃO: O protocolo permite estabelecer os principais fatores de risco fonoaudiológicos em crianças. Sugere-se que as crianças que apresentam um ou mais fatores de risco citados acima devam ser acompanhadas periodicamente quanto ao desenvolvimento da fala e linguagem e, se necessário, encaminhadas para intervenção precoce. .

Risk factors identification in children with speech disorders: pilot study.

PURPOSE: To identify the main risk factors related to children and their parents, associated with speech and language disorders. METHODS: A prospective descriptive study conducted with 170 children and their parents assisted at a school clinic in the period between March 2010 and July 2012. A protocol was developed for this study in order to identify risk factors for language and speech disorders. Data were tabulated and analyzed using descriptive and inferential statistics by the χ² and Student's t-test . RESULTS: The demographic profile is composed of male children aged between 4 and 5 years old, ethnicity declared by parents as being white, residents of the western region of the city of São Paulo, and whose parents had completed high school. The factors related to family and considered as risks for language impairment were being an only child and having a family history of speech and language disorders. As for the children' s health, prematurity, hospitalization for a long period, and the presence of deleterious oral habits were also considered as risk factors. CONCLUSION: The protocol allows establishing the main risk factors related to children with speech and language disorders. It is suggested that children who present with one or more of the aforementioned risk factors should be regularly monitored for speech and language development and, if necessary, referred for early intervention.

Phonological awareness abilities of a child with acquired immunodeficiency syndrome before and after speech therapy.

The aim of the present study was to characterize the phonological awareness abilities of a child with Acquired Immunodeficiency Syndrome (AIDS) before and after speech-language therapy. The participant was a 6-year-old girl, first-grade Elementary School student, with AIDS acquired by vertical transmission. The child's phonological awareness abilities were evaluated using the Instrument of Sequential Evaluation of Phonological Awareness (CONFIAS). After this first evaluation, a closed therapeutic program (15 sessions) for phonological awareness was developed, consisting of activities for syllabic and phonemic levels. The CONFIAS was reapplied in the last session in order to investigate therapy effectiveness. In the pre-therapy assessment, the child scored 18 points in syllable tasks and 1 point in phoneme tasks, with a total score of 19 points. In the post-therapy assessment, the child scored 26 points in syllable tasks and 11 points in phoneme tasks, with a total score of 37 points. This study allowed us to characterize the performance of a child with AIDS in tasks of phonological awareness and the effectiveness of the therapeutic program. The score obtained before therapy was much lower than expected for the child's age, and presented significant improvement after speech-language therapy. Thus, professionals working with this population must be aware of therapeutic programs that approach phonological processing abilities in addition to other aspects.

Habilidades de consciência fonológica em criança portadora da síndrome da imunodeficiência adquirida: pré e pós-terapia fonoaudiológica / Phonological awareness abilities of a child with acquired immunodeficiency syndrome before and after speech therapy

Este trabalho teve por objetivo caracterizar as habilidades de consciência fonológica em uma criança portadora da Síndrome da Imunodeficiência Adquirida (SIDA) pré e pós-terapia fonoaudiológica. A participante foi uma criança do gênero feminino, de 6 anos de idade, aluna do primeiro ano do ensino fundamental, portadora de SIDA adquirida por transmissão vertical. Foi realizada uma avaliação das habilidades de consciência fonológica por meio da aplicação do teste Consciência Fonológica - Instrumento e Avaliação Sequencial (CONFIAS). Após, foi desenvolvido um programa terapêutico fechado (15 sessões) para consciência fonológica, composto por atividades em níveis silábico e fonêmico. Na última sessão, o teste CONFIAS foi reaplicado para investigação da efetividade da terapia. Na avaliação pré-terapia, a criança apresentou escore de 18 pontos nas tarefas em nível silábico e um ponto em tarefas em nível fonêmico, totalizando um escore de 19 pontos. Na avaliação pós-terapia, o escore obtido em tarefas silábicas foi de 26 pontos e em tarefas fonêmicas 11 pontos, totalizando um escore de 37 pontos. Este estudo permitiu-nos caracterizar o desempenho de uma criança com SIDA em tarefas de habilidades de consciência fonológica e a efetividade de um programa terapêutico. A pontuação obtida na avaliação pré-terapia mostrou-se bastante inferior ao esperado para a idade e apresentou evolução significativa após a realização de terapia fonoaudiológica. Assim, os profissionais envolvidos com esta população devem estar atentos aos programas terapêuticos que abordem, além de outros aspectos, as habilidades de processamento fonológico.

The aim of the present study was to characterize the phonological awareness abilities of a child with Acquired Immunodeficiency Syndrome (AIDS) before and after speech-language therapy. The participant was a 6-year-old girl, first-grade Elementary School student, with AIDS acquired by vertical transmission. The child's phonological awareness abilities were evaluated using the Instrument of Sequential Evaluation of Phonological Awareness (CONFIAS). After this first evaluation, a closed therapeutic program (15 sessions) for phonological awareness was developed, consisting of activities for syllabic and phonemic levels. The CONFIAS was reapplied in the last session in order to investigate therapy effectiveness. In the pre-therapy assessment, the child scored 18 points in syllable tasks and 1 point in phoneme tasks, with a total score of 19 points. In the post-therapy assessment, the child scored 26 points in syllable tasks and 11 points in phoneme tasks, with a total score of 37 points. This study allowed us to characterize the performance of a child with AIDS in tasks of phonological awareness and the effectiveness of the therapeutic program. The score obtained before therapy was much lower than expected for the child's age, and presented significant improvement after speech-language therapy. Thus, professionals working with this population must be aware of therapeutic programs that approach phonological processing abilities in addition to other aspects.

Aluminio en pacientes con terapia de reemplazo renal crónico con hemodiálisis en dos unidades renales en Bogotá / Aluminium in chronic renal replacement therapy patients undergoing haemodialysis in two renal units in Bogotá

Objetivo Determinar las concentraciones de aluminio en suero de pacientes con terapia de reemplazo renal crónico con hemodiálisis y las concentraciones en agua de redes de distribución y diálisis en dos unidades renales en Bogotá. Material y Métodos Estudio descriptivo en 63 pacientes en hemodiálisis y 20 individuos sanos. Las concentraciones de aluminio se determinaron por espectrofotometría de absorción atómica horno de grafito con corrección de lámpara de deuterio. Resultados El promedio de las concentraciones de aluminio en suero de los pacientes fue de 26,5 µg/L (11,2 a 49,2 µg/L, DE=8,03), en individuos sanos de 8,05 µg/L (menor al Límite de Detección a 17,2 µg/L, DE=4,31), en agua de diálisis fue menor a 2 µg/L y en agua de las redes de distribución menor a 200 µg/L. Conclusiones Las concentraciones de aluminio en el agua de la red de distribución y diálisis estudiadas se encontraron por debajo de los valores establecidos internacionalmente indicando un adecuado tratamiento de las mismas. Igualmente las concentraciones de aluminio pre-HD y post-HD observadas en los pacientes se encontraron por debajo de las reportadas en la literatura. El consumo de hidróxido de aluminio aumenta significativamente la concentración de aluminio en suero. Variables como edad, género, estado civil y situación laboral no son factores de riesgo que alteren significativamente las concentraciones de aluminio en suero.

Objective Determining aluminium concentrations in the serum of patients undergoing chronic renal replacement therapy with haemodialysis and concentration in distribution network water and dialysis in two renal units in Bogotá. Material and Methods This was a descriptive study of 63 haemodialysed patients and 20 healthy subjects. Aluminium concentration was determined in water and serum using graphite furnace atomic absorption spectrometry with deuterium lamp background corrector. Results Average aluminium concentration was 26.5 µg/L in patients (ranging from 11.2 to 49.2 µg/L; 8.03 standard deviation) and 8.05 µg/L in healthy individuals (ranging from undetectable to 17.2 µg/L; 4.31 standard deviation). Aluminium concentration in dialysis water and distribution network water was below 2 µg/L and 200 µg/L, respectively. Conclusions Aluminium concentration in water and serum in this study was below international standard values, thereby indicating appropriate treatment. Additionally, aluminium concentration in pre-HD and post-HD sera was below that reported previously. Aluminium hydroxide uptake increases aluminium concentration in serum. Personal situation regarding age, gender, civil and work status were not risk factors determining aluminium concentrations in serum.

[Aluminium in chronic renal replacement therapy patients undergoing haemodialysis in two renal units in Bogotá]. / Aluminio en pacientes con terapia de reemplazo renal crónico con hemodiálisis en dos unidades renales en Bogotá.

OBJECTIVE: Determining aluminium concentrations in the serum of patients undergoing chronic renal replacement therapy with haemodialysis and concentration in distribution network water and dialysis in two renal units in Bogotá. MATERIAL AND METHODS: This was a descriptive study of 63 haemodialysed patients and 20 healthy subjects. Aluminium concentration was determined in water and serum using graphite furnace atomic absorption spectrometry with deuterium lamp background corrector. RESULTS: Average aluminium concentration was 26.5 µg/L in patients (ranging from 11.2 to 49.2 µg/L; 8.03 standard deviation) and 8.05 µg/L in healthy individuals (ranging from undetectable to 17.2 µg/L; 4.31 standard deviation). Aluminium concentration in dialysis water and distribution network water was below 2 µg/L and 200 µg/L, respectively. CONCLUSIONS: Aluminium concentration in water and serum in this study was below international standard values, thereby indicating appropriate treatment. Additionally, aluminium concentration in pre-HD and post-HD sera was below that reported previously. Aluminium hydroxide uptake increases aluminium concentration in serum. Personal situation regarding age, gender, civil and work status were not risk factors determining aluminium concentrations in serum.

Sob as barbas do Imperador D. Pedro II: o prognatismo dos Habsburgos / Under the beard of the Emperor D. Pedro II: the Habsburg prognathism

Os autores descrevem a evolução histórica que levou à precoce coroação do D. Pedro deAlcântara como Imperador do Brasil e a concomitante discussão sobre o uso precoce debarba em que se mesclava a influência do prognatismo hereditário do qual era portador e anecessidade naquele momento histórico de ter um aparência mais envelhecida para imporo respeito do seu cargo. Os autores fazem uma revisão dos antecedentes hereditários do D.Pedro II, ligando a família dos Habsburgos reconhecida portadora de prognatismo hereditário.Citam e discutem os casos mais reconhecidos desta afecção nos Habsburgos.

The authors describe the historical evolution of the Pedro de Alcântara precocious coronationas Emperor of Brasil and the discussion about the need of the use of beard even he was soyoung. This debate included the influence of its hereditary prognathism and the necessityto show an older and respectable Emperor. The authors review the inheritance of D. PedroII linking to the Habsburg family recognized as a carrier of the hereditary prognathism.

Anterior open bite and speech disorders in children with Down syndrome.

OBJECTIVE: To estimate the prevalence and to determine if there is an association between anterior open bite and the presence of speech disorders in a group of Mexican children with Down syndrome (DS). MATERIALS AND METHODS: The subjects were a group of Mexican children with Down syndrome (DG) and a control group (CG) of Mexican pediatric patients without disabilities matched by age. The children in both groups came from families having children with anterior open bite and children without it. A parental questionnaire, dental study casts, and a speech test were used to measure the studied variables. Data were analyzed using the chi-square test (chi(2) test), and one-way analyses of variance (ANOVA), followed by the Tukey post hoc test. RESULTS: Prevalence of anterior open bite was 31.6% in the DG and 22.8% in the CG. The total speech errors by omissions, substitutions, distortions, and additions indicated that there were significant differences between both groups (F = 31.68, P < .001). In general, no significant difference in speech disorders was observed between the DG and the CG regardless of the presence of anterior open bite. CONCLUSIONS: No association existed between speech disorders and anterior open bite in the samples studied.

[Intermediary form of Foix-Chavany-Marie / Worster-Drought syndromes associated to involuntary movements: neuropsychological and phonoaudiological features]. / Forma intermediária de síndrome de Foix-Chavany-Marie / síndrome de Worster-Drought associada a movimentos involuntários: aspectos neuropsicológicos e fonoaudiológicos.

The Foix-Chavany-Marie syndrome (FCMS) is characterized by apraxia of speech associated to bilateral central facio-linguo-velo-pharyngeal paralysis, with automatic-voluntary dissociation. In Worster-Drought Syndrome (WDS), dysarthria is remarkable. We report an 18-year-old female, with clinical and radiological findings of intermediary form of FCMS/WDS, and showing involuntary movements, an unusual fact.

Forma intermediária de síndrome de Foix-Chavany-Marie / síndrome de Worster-Drought associada a movimentos involuntários: aspectos neuropsicológicos e fonoaudiológicos / Intermediary form of Foix-Chavany-Marie / Worster-Drought syndromes associated to involuntary movements: neuropsychological and phonoaudiological features

A síndrome de Foix-Chavany-Marie (SFCM) caracteriza-se por apraxia da fala associada à paralisia bilateral da face, palato mole, língua e musculatura da faringe, mas com preservação das funções reflexas e automáticas. Na síndrome de Worster-Drought (SWD), há predomínio da disartria. Descrevemos o caso de uma jovem de 18 anos, que apresenta os achados clínicos e radiológicos compatíveis com a forma intermediária de SFCM/SWD, acompanhados de movimentos involuntários (coréia e distonia), fato de ocorrência rara na descrição destas síndromes.

Reflexäo sobre a doença periodontal e sua relaçäo com a atuaçäo fonoaudiológica na presença de hábitos bucais deletérios / Reflexion on the perioddontal diease and its relation with the phonoauological performance when deleterious buccal habits are present

Inúmeras sä as causas da doença periodontal sendo que, segundo Glickman (1986), a placa bacteriana é a mais frequente e responsável por modificaçöes patológicas nos tecidos do periodonto, favorecendo o aparecimento de vários sinais e sintomas. Näo obstante, o mesmo autor coloca que, em alguns casos, podem existir fatores agravantes, contribuindo na piora do quadro já estabelecido, dentre eles os hábitos bucais deletérios. Tomando como base estes dados, o presente trabalho consiste na revisäo da literatura sobre o tema em questäo. Tem como objetivo refletir a respeito da importância da atuaçäo fonoaudiológica juntamente com o periodontista, quando há presença de maus hábitos interferindo na estabilidade dos dentes acometidos pela doença periodontal. Concluiu-se que o fonoaudiólogo é considerado o profissional que pode contribuir de forma significativa na estabilizaçäo do caso, visto que possui conhecimentos específicos sobre a musculatura orofacial. Em virtude dos pucos estudos sobre o assunto, enfatiza-se a necessidade de pesquisas subsequentes sobre a relaçäo entre a Fonoaudiologia e a Periodontia, a fim de elucidar o papel desempenhado por profissionais destas áreas no atendimento clínico.

Clinical evolution of laryngeal granulomas: treatment and prognosis.

OBJECTIVE/HYPOTHESIS: To study the response to treatment by patients with granulomas not related to surgery, considering their respective causes. METHODS: Retrospective study of larynx granulomas seen at the Instituto da Laringe (Sao Paulo, Brazil) from June 1996, totaling 66 patients, being 20 (30,3%) diagnosed with gastroesophageal reflux syndrome, 22 (33,3%) due to vocal abuse, 15 (22,7%) to postorotracheal intubation, and 9 (13,6%) of idiopathic cause. FINDINGS: Of the 66 patients diagnosed, 10 did not start the treatment, with only 56 being analyzed, 6 of whom later abandoned the treatment. The cause-oriented treatment showed 100% control in postintubation granulomas. In the cases of reflux and vocal abuse, the success rates when considering only the cause were 75% and 87.5%, respectively. In the cases of undefined cause, all were subjected to surgical removal with or without clinical or speech-therapy treatment; we attained only a 37.5% success rate in the first trial. Of these, after various unsuccessful rescue treatments, three which were treated with botulinum toxin type A had 100% resolution. The recurrence percentage varied according to the cause, being nonexistent in the postintubation cases, 21.4% in patients with reflux esophagitis, 35.2% in vocal abuse, and 62.5% in those of idiopathic etiology. CONCLUSION: Of the laryngeal granulomas, the best prognoses were given by the postintubation ones, whereas the worst were those of undefined cause. Those ascribed to gastroesophageal reflux and vocal abuse have a high resolution rate, although some cases need rescue procedures.

Alteraciones del habla en niños con anomalías dentomaxilofaciales / Speech disorders in children having dentomaxillofacial anomalies

Se realizó un estudio en 8 pacientes con dislalias y maloclusión del área de salud "Héroes del Moncada" con el objetivo de conocer si existe relación entre la disarticulación de la palabra y las anomalías dentomaxilofaciales, éstos fueron tratados con un aparato de ortopedia funcional de los maxilares, el activador abierto elástico de Klammt, para evaluar el año de tratamiento cómo evolucionaba la incompetencia del cierre labial, el resalte anterior aumentado, la adaquia anterior, el diastema central y la dislalia, donde se obtuvo que más del 65 por ciento de los pacientes resolvieron estas anomalías; así como la dificultad en la articulación de la palabra

Word-finding difficulties, verbal paraphasias, and verbal dyspraxia in ten individuals with fragile X syndrome.

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.

A 28-year follow-up of adults with a history of moderate phonological disorder: linguistic and personality results.

The present investigation is a follow-up to a longitudinal speech and academic study involving approximately 400 normally developing children begun in 1960 by Mildred Templin. From this large data base, the present project invited the participation of two groups of subjects (now aged 32 to 34): (a) 24 adults with a documented history of moderately severe phonological disorder that persisted at least through the end of first grade (probands) and (b) 28 adults from the same birth cohort and schools who were known to have had at least average articulation skills over the same period (controls). Results of follow-up testing revealed that the proband adults performed significantly more poorly than the control adults on all of the administered measures of articulation, expressive language, and receptive language. Results obtained from a screening of nonverbal reasoning ability were equivocal. On a questionnaire measure of personality, both groups scored well within the normal range for the dimensions of extroversion and neuroticism when compared to the test's normative sample. These results have been interpreted as suggesting that although many adults with a childhood history of delayed phonological development will continue to experience linguistic outcomes that are less favorable than those of controls, their performance in selected nonlanguage domains (e.g., nonverbal reasoning, personality) will be far more typical of the general population.