This report describes three extensions to a classification system for pediatric speech sound disorders termed the Speech Disorders Classification System (SDCS). Part I describes a classification extension to the SDCS to differentiate motor speech disorders from speech delay and to differentiate among three subtypes of motor speech disorders. Part II describes the Madison Speech Assessment Protocol (MSAP), an approximately two-hour battery of 25 measures that includes 15 speech tests and tasks. Part III describes the Competence, Precision, and Stability Analytics (CPSA) framework, a current set of approximately 90 perceptual- and acoustic-based indices of speech, prosody, and voice used to quantify and classify subtypes of Speech Sound Disorders (SSD). A companion paper, Shriberg, Fourakis, et al. (2010) provides reliability estimates for the perceptual and acoustic data reduction methods used in the SDCS. The agreement estimates in the companion paper support the reliability of SDCS methods and illustrate the complementary roles of perceptual and acoustic methods in diagnostic analyses of SSD of unknown origin. Examples of research using the extensions to the SDCS described in the present report include diagnostic findings for a sample of youth with motor speech disorders associated with galactosemia (Shriberg, Potter, & Strand, 2010) and a test of the hypothesis of apraxia of speech in a group of children with autism spectrum disorders (Shriberg, Paul, Black, & van Santen, 2010). All SDCS methods and reference databases running in the PEPPER (Programs to Examine Phonetic and Phonologic Evaluation Records; [Shriberg, Allen, McSweeny, & Wilson, 2001]) environment will be disseminated without cost when complete.

Classical galactosemia (CG) is an inborn error of galactose metabolism. Evidence-based guidelines for the treatment and follow-up of CG are currently lacking, and treatment and follow-up have been demonstrated to vary worldwide. To provide patients around the world the same state-of-the-art in care, members of The Galactosemia Network (GalNet) developed an evidence-based and internationally applicable guideline for the diagnosis, treatment, and follow-up of CG. The guideline was developed using the Grading of Recommendations Assessment, Development, and Evaluation (GRADE) system. A systematic review of the literature was performed, after key questions were formulated during an initial GalNet meeting. The first author and one of the working group experts conducted data-extraction. All experts were involved in data-extraction. Quality of the body of evidence was evaluated and recommendations were formulated. Whenever possible recommendations were evidence-based, if not they were based on expert opinion. Consensus was reached by multiple conference calls, consensus rounds via e-mail and a final consensus meeting. Recommendations addressing diagnosis, dietary treatment, biochemical monitoring, and follow-up of clinical complications were formulated. For all recommendations but one, full consensus was reached. A 93 % consensus was reached on the recommendation addressing age at start of bone density screening. During the development of this guideline, gaps of knowledge were identified in most fields of interest, foremost in the fields of treatment and follow-up.Electronic supplementary materialThe online version of this article (doi:10.1007/s10545-016-9990-5) contains supplementary material, which is available to authorized users.

BackgroundClassic 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.MethodsThirty‐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.ResultsThe 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 diagnosed with POI. One woman and two men had had children. Logistic regression analyses revealed no associations between age, genotype or gender with IQ, tremor, ataxia, dysarthria, apraxia of speech or anxiety. Each 10‐ year increment of age was associated with a twofold increase in odds of depression.ConclusionsTaken together, these data do not support the hypothesis that galactosemia is a progressive neurodegenerative disease. However, greater attention to depression, anxiety, and social relationships may relieve the impact of this disorder in adults.

Purpose-We address the hypothesis that the severe and persistent speech disorder reported in persons with galactosemia meets contemporary diagnostic criteria for Childhood Apraxia of Speech (CAS). A positive finding for CAS in this rare metabolic disorder has the potential to impact treatment of persons with galactosemia and inform explanatory perspectives on CAS in neurological, neurodevelopmental, and idiopathic contexts.Method-Thirty-three youth with galactosemia and significant prior or persistent speech sound disorder were assessed in their homes in 17 states. Participants completed a protocol yielding information on their cognitive, structural, sensorimotor, language, speech, prosody, and voice status and function.Results-Eight of the 33 participants (24%) met contemporary diagnostic criteria for CAS. Two participants, one of whom was among the 8 with CAS, met criteria for ataxic or hyperkinetic dysarthria. Group-wise findings for the remaining 24 participants are consistent with a classification category termed Motor Speech Disorder-Not Otherwise Specified (MSD-NOS; Shriberg, Fourakis, et al., in press-a).Conclusion-We estimate the prevalence of CAS in galactosemia at 18 per hundred, 180 times the estimated risk for idiopathic CAS. Findings support the need to study risk factors for the high occurrence of motor speech disorders in galactosemia, despite early compliant dietary management. Keywords apraxia; dyspraxia; genetics; motor speech disorder; speech sound disorder Consistent trends in the sparse literature on galactosemia and communicative disorders indicate high occurrence of significant and persistent speech sound disorder (SSD) in persons with galactosemia, with most reported speech findings consistent with developmental verbal dyspraxia. As recommended by the American Speech-LanguageHearing Association (ASHA, 2007), we hereafter reference apraxia of speech in children as Childhood Apraxia of Speech (CAS). The following three sections, respectively, review cognitive, language, and speech findings in galactosemia, summarize contemporary research issues in CAS, and describe rationale for the three questions about galactosemia and CAS addressed in this study. NIH-PA Author ManuscriptNIH-PA Author Manuscript NIH-PA Author Manuscript Galactosemia DescriptionGalactosemia is an autosomal recessive metabolic disorder estimated to occur in 1 in 53,000 infants in the United States (National Newborn Screening and Genetics Resource Center; Newborn Screening and Genetic Testing Symposium, 2002). Galactose is one of two sugars that make up the complex milk sugar, lactose. Individuals with galactosemia lack or have insufficient amounts of the galactose-1-phosphate uridylyltransferase enzyme needed to break down galactose, resulting in a toxic build-up of galactose -1-phosphate in the red blood cells. The most common genotype for galactosemia, Q188R/Q188R, was found in 62% of 107 cases of galactosemia described in Elsas, Langley, Paulk, Hjelm, and Dembure (1995). Individuals homozygous for galactosemia ...

Summary 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 receptive-expressive 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.

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.

Evaluating tongue function is clinically important as the generation of adequate pressure by the anterior tongue against the hard palate is crucial for efficient oropharyngeal swallowing. Research in the evaluation of tongue function in pediatric populations is limited due to questions about the reliability of children's performance on objective measures of tongue strength and the lack of comparative data from typically developing children. The present study examined tongue strength in 150 children and adolescents, 3-16 years of age, with no history of speech or swallowing disorders using the Iowa Oral Pressure Instrument (IOPI). Children as young as 3 years of age were able to tolerate the IOPI standard tongue bulb and were reliable performers on measures of tongue strength with an unconstrained mandible. Tongue strength measurements were elicited in blocks of three trials with a 30-s rest between the trials and a 20-min rest between blocks. Tongue strength increased with age with no consistent best trial across ages and participants. Males showed a slight increase in tongue strength over females at ages 14 and 16. This study suggests maximum pediatric tongue strength may be reliably evaluated using commercially available equipment and provides a limited sample comparative database.

OBJECTIVES: For decades, infants with Duarte galactosemia (DG) have been identified by newborn screening (NBS), but whether they should be treated with dietary restrictions of galactose has remained unknown. To clarify, we conducted a study of dietary and developmental outcomes in 206 children with DG (case patients) and 144 controls, all of whom were 6 to 12 years old. METHODS:We recruited case patients from states where they were identified by NBS; unaffected siblings served as controls. Diet in infancy was ascertained by retrospective parent surveys; developmental outcomes were assessed in 5 domains, yielding 73 outcome measures for each child. We divided subjects randomly into independent discovery (n = 87) and validation (n = 263) sets. We tested the discovery set to order the 73 outcome measures by ascending P values and tested the 10 outcomes with the lowest P values for possible association with DG in the validation set. We also tested these same 10 outcomes for possible association with milk exposure in infancy among case patients in the validation set. RESULTS:None of the 73 outcomes tested in the discovery set revealed significant association with DG, and none of the 10 outcomes tested in the validation set revealed either significant association with DG or significant association with milk exposure among children with DG. CONCLUSIONS:Through our results, we demonstrated that there were no significant differences in outcomes tested between case patients and controls or among case patients as a function of milk exposure in infancy. In this study, we provide a long-needed foundation of knowledge for health care providers, families, and NBS professionals seeking to make evidence-based decisions about DG.