Motor and Speech Disorders in Classic Galactosemia

Purpose To test the hypothesis that children with classic galactosemia and speech disorders are at risk for co-occurring strength and coordination disorders. Method This is a case–control study of 32 children (66% male) with galactosemia and neurologic speech disorders and 130 controls (50% male) ages 4–16 years. Speech was assessed using the Percentage of Consonants Correct (PCC) metric from responses to the Goldman-Fristoe Test of Articulation-2 and from a 5-min recorded speech sample, hand and tongue strength using the Iowa Oral Performance Instrument, and coordination using the Movement Assessment Battery for Children. The number of days on milk during the neonatal period was obtained by parent report. Analyses of covariance, distributions, and correlations were used to evaluate relationships among speech, strength, coordination, age, gender, and days on milk. Results Children with galactosemia had weaker hand and tongue strength and most (66%) had significant coordination disorders, primarily affecting balance and manual dexterity. Among children with galactosemia, children with more speech errors and classified as childhood apraxia of speech (n = 7) and ataxic dysarthria (n = 1), had poorer balance and manual dexterity, but not weaker hand or tongue strength, compared to the children with fewer speech errors. The number of days on milk during the neonatal period was associated with more speech errors in males but not in females. Conclusion Children with galactosemia have a high prevalence of co-occurring speech, coordination, and strength disorders, which may be evidence of a common underlying etiology, likely associated with diffuse cerebellar damage, rather than distinct disorders

Análise acústica e índice de estimulabilidade sons líquidos do português brasileiro Acoustic analysis and stimulability index for Brazilian Portuguese liquid sounds

OBJETIVO: descrever as características acústicas obtidas por meio da análise acústica (AA) e do índice de estimulabilidade (IE) das líquidas [[l/]; [[r/]; [[lh/]. MÉTODOS: foram analisadas as produções de fala coletadas através da imitação de sílabas de dois sujeitos gemelares de 11:6 anos apresentando os processos de simplificação de líquidas e simplificação do encontro consonantal. As produções foram analisadas acusticamente e por meio do teste de estimulabilidade. RESULTADOS: os dois sujeitos produziram adequadamente o som [[l/]. O sujeito 1 não foi estimulável para o [[r/], tendo substituído-o pelo [[l/] independentemente da vogal subseqüente. O sujeito 2 foi estimulável ao som [[r/] e o produziu de forma correta em apenas uma imitação quando acompanhado da vogal /a/. A AA permitiu verificar que o som [[l/] foi produzido de maneiras diferentes quando emitido de maneira adequada e quando no lugar do som [[r/]. Os dois sujeitos foram estimuláveis para o [[lh/]. A AA das produções entre o som [[lh/] acompanhado da vogal /a/ e da vogal /u/ apresentou diferença estatisticamente significante. A vogal /i/ mostrou-se o contexto menos facilitador para o sujeito 2. CONCLUSÃO: o emprego conjunto desses dois procedimentos mostrou-se eficaz na identificação de alterações acústico-articulatórias fornecendo parâmetros facilitadores para a aquisição de um determinado som, seja ele um parâmetro motor ou acústico.<br>PURPOSE: to describe the acoustic characteristics obtained from the acoustic analysis (AA) and the stimulability index (SI) of the liquids [[l/]; [[r/]; [[lh/]. METHODS: we analyzed the speech production elicited by imitation from two twin adolescents aged 11:6 years-old, showing the phonological process of liquid simplification. Their productions were acoustically analyzed before the stimulability test application. RESULTS: the two subjects correctly produced the sound [[l/]. Subject 1 was not stimulable to the sound [[r/] and his production was substituted by [[l/] independently of the subsequent vowel. Subject 2 was stimulable to the sound [[l/] and produced it correctly only in one of the imitations task when combined with the vowel /a/. The AA showed that the sound [[l/] was produced in different ways when production was either correct or substituted by [[r/]. Both subjects were stimulable to [[lh/]. AA showed statistical differences when the [[lh/] was followed by the vowels /a/ and /u/. The vowel /i/ was the only sound that did not facilitate the production of [[lh/] for the subject 2. CONCLUSION: the combined use of both procedures was effective in identifying motor and acoustical speech problems and helped to find out some parameters that tend to facilitate the acquisition of a sound