Purpose To test the hypothesis that children with classic galactosemia and speech disorders are a... more Purpose To test the hypothesis that children with classic galactosemia and speech disorders are at risk for cooccurring strength and coordination disorders.
Duarte galactosemia (DG) is a mild allelic variant of classic galactosemia that results from part... more Duarte galactosemia (DG) is a mild allelic variant of classic galactosemia that results from partial impairment of galactose-1P uridylyltransferase (GALT). Although infants with DG are detected by newborn screening in some US states at close to 1/4,000 live births, most are discharged from follow-up very early in life and there is no consensus on whether these children are at increased risk for any of the long-term developmental delays seen in classic galactosemia. There is also no consensus on whether infants with DG benefit from dietary restriction of galactose. Reflecting the current uncertainty, some states choose to identify infants with DG by newborn screening and others do not. As a first step toward characterizing the developmental outcomes of school-age children with DG, we conducted a pilot study, testing 10 children with DG and 5 unaffected siblings from the same group of families. All children tested were between 6 and 11 years old. We used standardized direct assessment...
The Journal of the Acoustical Society of America, 2013
ABSTRACT Repetitive use of specific muscle groups is known to increase both strength and the abil... more ABSTRACT Repetitive use of specific muscle groups is known to increase both strength and the ability to sustain muscle activity (i.e., endurance) of those muscle groups. Certain orofacial muscles are necessarily recruited in the course of playing a brass instrument, and thus regular performers may incidentally gain strength and endurance in the orofacial muscles used to perform. To test this possibility, 16 skilled trumpet players and 16 non-playing controls contributed strength and endurance (at 50% of maximum strength) measures for buccal, lingual, and labial muscle groups. Results indicate that trumpet players had greater cheek strength and lip endurance, but there were no differences between test and control groups for tongue strength or endurance. Findings suggest that incidental orofacial muscle activity may have a positive functional impact on orofacial muscle strength and/or endurance. This finding supports a clinically useful, objective measure for diagnosis and may be useful for functional rehabilitation for patients with orofacial disorders including those with Bell's palsy, complications associated with otitis media, acoustic neuromas, or other facial- or cranial nerve damage due to surgery, trauma, or disease.
The authors examined and compared the development of oral and manual force control in preschool-a... more The authors examined and compared the development of oral and manual force control in preschool-aged children. In all, 50 typically developing children (aged 3-5 years) performed maximal strength tasks and submaximal visually guided tasks using tongue elevation, power, and precision grips. Dependent measures included strength, rate of force rise, initial force overshoot, force variability, and rate of force release. The authors performed age- and performance-related analyses. Results revealed similar changes for tongue, fingers, and hands across age- and performance-related measures for strength, initial force overshoot, and rate of force release. There were no significant changes in rate of force rise with increasing age. Force variability measures showed effector-specific changes with decreases across age- and performance-related measures for the hands and fingers but not for the tongue. Changes common across effector systems likely reflect biological development coupled with cognitive-strategic development. Effector-specific changes in force variability likely reflect experience gained through functional tasks influencing biological and cognitive-strategic development. Lack of change in force variability of the tongue suggests that fine control of the tongue is activity specific; thus, nonfunctional tasks are not likely to be sensitive to experience-related biological development.
Background Classic galactosemia is an autosomal recessive disorder due to galactose-1-phosphate u... more Background Classic galactosemia is an autosomal recessive disorder due to galactose-1-phosphate uridyltransferase (GALT) deficiency. Newborn screening and early treatment do not completely prevent tremor, speech deficits, and diminished IQ in both sexes and premature ovarian insufficiency (POI) in women. Data on how individuals with galactosemia fare as adults will improve our ability to predict disease progression. Methods Thirty-three adults (mean age=32.6±11.7 years; range=18-59) with classic galactosemia, confirmed by genotype and undetectable GALT enzyme activity, were evaluated. Analyses assessed associations among age, genotype, clinical features and laboratory measures. Results The sample included 17 men and 16 women. Subjects exhibited cataracts (21%), low bone density (24%), tremor (46%), ataxia (15%), dysarthria (24%), and apraxia of speech (9%). Subjects reported depression (39%) and anxiety (67%). Mean full scale IQ was 88±20, (range=55-122). All subjects followed a dairy-free diet and 75-80% reported low intake of calcium and vitamin D. Mean height, weight and body mass were within established norms. All female subjects had been Communicated by: Sedel Frederic Competing interest: None declared.
Purpose This study describes risk factors associated with language impairment in children with cl... more Purpose This study describes risk factors associated with language impairment in children with classic galactosaemia. Method Thirty-three 4-16-year-old participants with classic galactosaemia and a history of speech sound disorders completed a battery of cognitive and language measures and their parents completed a family history questionnaire. Results Nine of the sixteen (56%) participants with typical cognitive development and 15 of the 17 (88%) with borderline-low cognitive development had language impairments. Participants with typical cognitive development more often had an expressive language disorder, whereas those with borderline-low cognitive development more often had a mixed receptiveexpressive language disorder. Participants with Q188R/Q188R genotypes had increased risk for both cognitive and language impairments. The IQs of younger siblings who did not consume milk postnatally were 10-56 points higher than the IQs of their older siblings with galactosaemia who had consumed milk postnatally. However, 4 of 5 younger siblings who were lactose-restricted from birth had language impairments. Typically-reported risk factors for language disorder, including parental history of speech/learning problems and low parental education level, were not significantly associated with cognitive or language impairments in the present sample of children with galactosaemia. Conclusions Children with galactosaemia and speech disorders have a 4-6 times greater risk for language impairment than children with early speech disorders of unknown origin. Early dietary lactose may increase the risk for cognitive and language impairments; however, the lack of significant associations of language impairment with days of milk consumption, and other familial and educational risk factors, is consistent with prenatal causation.
The aim of this study was to examine the development of underlying motor control strategies in yo... more The aim of this study was to examine the development of underlying motor control strategies in young children by characterizing the changes in performance of a visually guided force regulation task using two different grip formations; a whole-hand power grip (developmentally easier) and a thumb-index finger precision grip (developmentally more advanced). Typically developing preschool children (n=50, 3.0-5.5 years) used precision and power grips to perform a ramp and hold task with their dominant and non-dominant hands. Participants performed five trials with each hand and grip holding the force at 30% of their maximum volitional contraction for 3 s. The data were examined for both age-related and performance-related changes in motor performance. Across ages, children increased in strength, decreased in initial overshoot of the target force level, and decreased in rate of force release. Results of a cluster analysis suggest non-linear changes in the development of force control in preschool children, with a plateau in (or maturation of) velocity measures (rate of force increase and force decrease) earlier than in amplitude-related measures (initial force overshoot and force variability).
ABSTRACT Interprofessional collaboration in simulation offers students an opportunity to learn ab... more ABSTRACT Interprofessional collaboration in simulation offers students an opportunity to learn about and from other health care professionals while practicing their patient care skills. Six groups, each with 11 students (10 students in speech–language pathology and 1 undergraduate nursing student), participated in a simulation involving a clinical (bedside) swallow exam on a simulated patient, portrayed by a tracheostomized manikin experiencing respiratory distress following an aspiration event. The students studying speech–language pathology performed a clinical swallow exam, and the nursing student facilitated deep tracheal suctioning. The simulation experience allowed the instructors to determine which student skills required remediation and allowed the students to discover that understanding the roles of other health care professionals is foundational for effective teamwork.
Trumpet players produce and manipulate sound through their instrument by articulating the lips, c... more Trumpet players produce and manipulate sound through their instrument by articulating the lips, cheeks, and tongue to create a proper airflow. These sustained muscle contractions may result in increased facial and lingual strength and endurance. The purpose of this study was to determine if adult trumpet players who practice at least 6 hrs/wk differed from adult non-trumpet-playing controls in strength and endurance of the lips, cheeks, and tongue. This case-control study involved 16 trumpet players, 16 healthy controls balanced for age and sex, and 1 trumpet player 25 years post-Bell's palsy. Strength and endurance of lip, cheek, and tongue muscles were measured using the Iowa Oral Performance Instrument (IOPI Medical, Redmond, WA). Maximum strength was the greatest pressure value of three encouraged trials. Endurance was the length of time the participant was able to sustain 50% of maximum strength. The findings indicate that trumpet players had greater facial strength and end...
Purpose To test the hypothesis that children with classic galactosemia and speech disorders are a... more Purpose To test the hypothesis that children with classic galactosemia and speech disorders are at risk for cooccurring strength and coordination disorders.
Duarte galactosemia (DG) is a mild allelic variant of classic galactosemia that results from part... more Duarte galactosemia (DG) is a mild allelic variant of classic galactosemia that results from partial impairment of galactose-1P uridylyltransferase (GALT). Although infants with DG are detected by newborn screening in some US states at close to 1/4,000 live births, most are discharged from follow-up very early in life and there is no consensus on whether these children are at increased risk for any of the long-term developmental delays seen in classic galactosemia. There is also no consensus on whether infants with DG benefit from dietary restriction of galactose. Reflecting the current uncertainty, some states choose to identify infants with DG by newborn screening and others do not. As a first step toward characterizing the developmental outcomes of school-age children with DG, we conducted a pilot study, testing 10 children with DG and 5 unaffected siblings from the same group of families. All children tested were between 6 and 11 years old. We used standardized direct assessment...
The Journal of the Acoustical Society of America, 2013
ABSTRACT Repetitive use of specific muscle groups is known to increase both strength and the abil... more ABSTRACT Repetitive use of specific muscle groups is known to increase both strength and the ability to sustain muscle activity (i.e., endurance) of those muscle groups. Certain orofacial muscles are necessarily recruited in the course of playing a brass instrument, and thus regular performers may incidentally gain strength and endurance in the orofacial muscles used to perform. To test this possibility, 16 skilled trumpet players and 16 non-playing controls contributed strength and endurance (at 50% of maximum strength) measures for buccal, lingual, and labial muscle groups. Results indicate that trumpet players had greater cheek strength and lip endurance, but there were no differences between test and control groups for tongue strength or endurance. Findings suggest that incidental orofacial muscle activity may have a positive functional impact on orofacial muscle strength and/or endurance. This finding supports a clinically useful, objective measure for diagnosis and may be useful for functional rehabilitation for patients with orofacial disorders including those with Bell's palsy, complications associated with otitis media, acoustic neuromas, or other facial- or cranial nerve damage due to surgery, trauma, or disease.
The authors examined and compared the development of oral and manual force control in preschool-a... more The authors examined and compared the development of oral and manual force control in preschool-aged children. In all, 50 typically developing children (aged 3-5 years) performed maximal strength tasks and submaximal visually guided tasks using tongue elevation, power, and precision grips. Dependent measures included strength, rate of force rise, initial force overshoot, force variability, and rate of force release. The authors performed age- and performance-related analyses. Results revealed similar changes for tongue, fingers, and hands across age- and performance-related measures for strength, initial force overshoot, and rate of force release. There were no significant changes in rate of force rise with increasing age. Force variability measures showed effector-specific changes with decreases across age- and performance-related measures for the hands and fingers but not for the tongue. Changes common across effector systems likely reflect biological development coupled with cognitive-strategic development. Effector-specific changes in force variability likely reflect experience gained through functional tasks influencing biological and cognitive-strategic development. Lack of change in force variability of the tongue suggests that fine control of the tongue is activity specific; thus, nonfunctional tasks are not likely to be sensitive to experience-related biological development.
Background Classic galactosemia is an autosomal recessive disorder due to galactose-1-phosphate u... more Background Classic galactosemia is an autosomal recessive disorder due to galactose-1-phosphate uridyltransferase (GALT) deficiency. Newborn screening and early treatment do not completely prevent tremor, speech deficits, and diminished IQ in both sexes and premature ovarian insufficiency (POI) in women. Data on how individuals with galactosemia fare as adults will improve our ability to predict disease progression. Methods Thirty-three adults (mean age=32.6±11.7 years; range=18-59) with classic galactosemia, confirmed by genotype and undetectable GALT enzyme activity, were evaluated. Analyses assessed associations among age, genotype, clinical features and laboratory measures. Results The sample included 17 men and 16 women. Subjects exhibited cataracts (21%), low bone density (24%), tremor (46%), ataxia (15%), dysarthria (24%), and apraxia of speech (9%). Subjects reported depression (39%) and anxiety (67%). Mean full scale IQ was 88±20, (range=55-122). All subjects followed a dairy-free diet and 75-80% reported low intake of calcium and vitamin D. Mean height, weight and body mass were within established norms. All female subjects had been Communicated by: Sedel Frederic Competing interest: None declared.
Purpose This study describes risk factors associated with language impairment in children with cl... more Purpose This study describes risk factors associated with language impairment in children with classic galactosaemia. Method Thirty-three 4-16-year-old participants with classic galactosaemia and a history of speech sound disorders completed a battery of cognitive and language measures and their parents completed a family history questionnaire. Results Nine of the sixteen (56%) participants with typical cognitive development and 15 of the 17 (88%) with borderline-low cognitive development had language impairments. Participants with typical cognitive development more often had an expressive language disorder, whereas those with borderline-low cognitive development more often had a mixed receptiveexpressive language disorder. Participants with Q188R/Q188R genotypes had increased risk for both cognitive and language impairments. The IQs of younger siblings who did not consume milk postnatally were 10-56 points higher than the IQs of their older siblings with galactosaemia who had consumed milk postnatally. However, 4 of 5 younger siblings who were lactose-restricted from birth had language impairments. Typically-reported risk factors for language disorder, including parental history of speech/learning problems and low parental education level, were not significantly associated with cognitive or language impairments in the present sample of children with galactosaemia. Conclusions Children with galactosaemia and speech disorders have a 4-6 times greater risk for language impairment than children with early speech disorders of unknown origin. Early dietary lactose may increase the risk for cognitive and language impairments; however, the lack of significant associations of language impairment with days of milk consumption, and other familial and educational risk factors, is consistent with prenatal causation.
The aim of this study was to examine the development of underlying motor control strategies in yo... more The aim of this study was to examine the development of underlying motor control strategies in young children by characterizing the changes in performance of a visually guided force regulation task using two different grip formations; a whole-hand power grip (developmentally easier) and a thumb-index finger precision grip (developmentally more advanced). Typically developing preschool children (n=50, 3.0-5.5 years) used precision and power grips to perform a ramp and hold task with their dominant and non-dominant hands. Participants performed five trials with each hand and grip holding the force at 30% of their maximum volitional contraction for 3 s. The data were examined for both age-related and performance-related changes in motor performance. Across ages, children increased in strength, decreased in initial overshoot of the target force level, and decreased in rate of force release. Results of a cluster analysis suggest non-linear changes in the development of force control in preschool children, with a plateau in (or maturation of) velocity measures (rate of force increase and force decrease) earlier than in amplitude-related measures (initial force overshoot and force variability).
ABSTRACT Interprofessional collaboration in simulation offers students an opportunity to learn ab... more ABSTRACT Interprofessional collaboration in simulation offers students an opportunity to learn about and from other health care professionals while practicing their patient care skills. Six groups, each with 11 students (10 students in speech–language pathology and 1 undergraduate nursing student), participated in a simulation involving a clinical (bedside) swallow exam on a simulated patient, portrayed by a tracheostomized manikin experiencing respiratory distress following an aspiration event. The students studying speech–language pathology performed a clinical swallow exam, and the nursing student facilitated deep tracheal suctioning. The simulation experience allowed the instructors to determine which student skills required remediation and allowed the students to discover that understanding the roles of other health care professionals is foundational for effective teamwork.
Trumpet players produce and manipulate sound through their instrument by articulating the lips, c... more Trumpet players produce and manipulate sound through their instrument by articulating the lips, cheeks, and tongue to create a proper airflow. These sustained muscle contractions may result in increased facial and lingual strength and endurance. The purpose of this study was to determine if adult trumpet players who practice at least 6 hrs/wk differed from adult non-trumpet-playing controls in strength and endurance of the lips, cheeks, and tongue. This case-control study involved 16 trumpet players, 16 healthy controls balanced for age and sex, and 1 trumpet player 25 years post-Bell's palsy. Strength and endurance of lip, cheek, and tongue muscles were measured using the Iowa Oral Performance Instrument (IOPI Medical, Redmond, WA). Maximum strength was the greatest pressure value of three encouraged trials. Endurance was the length of time the participant was able to sustain 50% of maximum strength. The findings indicate that trumpet players had greater facial strength and end...
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