Research Priorities for Childhood Apraxia of Speech: A Long View.

This article introduces the Journal of Speech, Language, and Hearing Research Special Issue: Selected Papers From the 2022 Apraxia Kids Research Symposium. The field of childhood apraxia of speech (CAS) has developed significantly in the past 15 years, with key improvements in understanding of basic biology including genetics, neuroscience, and computational modelling; development of diagnostic tools and methods; diversity of evidence-based interventions with increasingly rigorous experimental designs; and understanding of impacts beyond impairment-level measures. Papers in this special issue not only review and synthesize the some of the substantial progress to date but also present novel findings addressing critical research gaps and adding to the overall body of knowledge. A second aim of this prologue is to report the current research needs in CAS, which arose from symposium discussions involving researchers, clinicians, and Apraxia Kids community members (including parents of children with CAS). Four primary areas of need emerged from discussions at the symposium. These were: (a) What questions should we ask? (b) Who should be in the research? (c) How do we conduct the research? and (d) How do we move from research to practice? Across themes, symposium attendees emphasized the need for CAS research to better account for the diversity of people with CAS and improve the timeliness of implementation of high-level evidence-based practice across the lifespan. It is our goal that the articles and prologue discussion in this special issue provide an appreciation of advancements in CAS research and an updated view of the most pressing needs for future research.

Motor Milestones: Sensory Motor Trends of Young Children with Classic Galactosemia.

Speech problems affect about 66% of children with classic galactosemia (CG), but little is known about early motor and sensory motor development in this at-risk population (Rubio-Gozalbo et al., 2019). Research has been focused on speech and language development leaving a paucity of data on motor and sensory differences. This paper describes preliminary data regarding sensory motor and motor development patterns in young children with CG. Babble Boot Camp© (BBC) is an NIH-funded randomized control trial (RCT) implementing proactive interventions designed to support the speech language development of infants with CG. Cases were randomly assigned to a motor-first group (Motor Milestones), receiving virtual occupational therapy through 14 months, or a speech-first group, receiving virtual speech therapy through 14 months. All cases received speech and language therapy from 15 to 24 months. Controls, typically developing infants, did not receive occupational therapy or speech therapy. Participants were recruited through social media, advertisements, metabolic clinics, and the Galactosemia Foundation. Infants in the motor milestones group were assessed with the Developmental Assessment of Young Children and Sensory Profile-2 pre-enrollment (< 6 months of age) and post-treatment follow-up at 2.5, 3.5, and 4.5 years of age. Results show that 17.5% of participants with CG had delays in gross motor, 22.5% in fine motor, and 45% in sensory processing. Data from the Motor Milestones portion of BBC is important emerging evidence for occupational therapy in early intervention, preschool, and outpatient settings. This research supports the need for occupational therapy services during early intervention to minimize or prevent long-term motor and sensorimotor delays in infants with CG. Understanding patterns and addressing literature gaps helps support the need for occupational therapists to address motor delays, improve activities of daily living, play, promote functional independence, and provide caregiver education to best support the occupational performance of children with CG.

PlanoUp!: A pilot program for the identification and treatment of depression for youth in low-income secondary schools.

Rates of depression in youth are continuing to increase at a steady rate, yet these youth often do not receive mental health services (Bertha & Balázs, 2013; Thomas et al., 2011). Schools are an ideal setting to connect youth to mental health services; however, many barriers exist with respect to schools having adequate resources and access to the appropriate levels of services (Duong et al., 2021; Owens & Peltier, 2002). Schools may collaborate with local community providers with available resources to address these gaps. The current article describes the pilot of a school-based mental health promotion program intended to reduce depression in youth by promoting access to care through referrals to community providers. Data were collected, via self-report measures, every 3 months for 12 months from students from three middle and high schools in North Texas. The students (N = 88) enrolled in this program experienced significant reductions in their depression symptoms at the end of 12 months. This program highlights the importance of school-community partnerships to promote access to care to address mental health concerns. The results from our pilot study demonstrate the feasibility and the potential of school-based programs in improving the mental health of youth in schools through community partnership. (PsycInfo Database Record (c) 2024 APA, all rights reserved).

Grip strength in patients with galactosemia and in a galactose-1-phosphate uridylyltransferase (GALT)-null rat model.

Classic galactosemia (CG) and clinical variant galactosemia (CVG) are allelic inborn errors of metabolism that result from profound deficiency, and near-profound deficiency, respectively, of galactose-1-P uridylyltransferase (GALT). Despite early detection and lifelong dietary restriction of galactose, which is the current standard of care, most patients with CG/CVG grow to experience a range of long-term developmental and other complications. One of the less well-understood complications of CG/CVG is decreased hand grip strength, as reported by Potter et al. (2013). Here, we confirm this phenotype in an independent cohort of 36 cases (4-18 years) and 19 controls (4-17 years), and further demonstrate that the grip strength deficit observed in cases may be secondary to growth delay. Specifically, we found that when grip strength of cases and controls in a new cohort recruited in 2022 was plotted by weight, rather than age, the difference between cases and controls for both sexes disappeared. Reanalyzing data from the original 2013 cohort, we found that differences in weight accounted for grip strength differences between cases and controls in girls and young women, but not in boys and young men. Finally, we tested whether a GALT-null rat model of CG also showed a grip strength deficit-it did-and again the difference between GALT-null and wild-type rats associated with differences in body mass. Combined, these results confirm that GALT deficiency is associated with a grip strength deficit in both young patients with CG/CVG and GALT-null rats, and further demonstrate that this phenotype may be secondary to growth delay, and therefore not evidence of a muscle abnormality.

Virtual Post-Intervention Speech and Language Assessment of Toddler and Preschool Participants in Babble Boot Camp.

PURPOSE: Babble Boot Camp (BBC) is a parent-implemented telepractice intervention for infants at risk for speech and language disorders. BBC uses a teach-model-coach-review approach, delivered through weekly 15-min virtual meetings with a speech-language pathologist. We discuss accommodations needed for successful virtual follow-up test administration and preliminary assessment outcomes for children with classic galactosemia (CG) and controls at age 2.5 years. METHOD: This clinical trial included 54 participants, 16 children with CG receiving BBC speech-language intervention from infancy, age 2 years, five children receiving sensorimotor intervention from infancy and changing to speech-language intervention at 15 months until 2 years of age, seven controls with CG, and 26 typically developing controls. The participants' language and articulation were assessed via telehealth at age 2.5 years. RESULTS: The Preschool Language Scale-Fifth Edition (PLS-5) was successfully administered with specific parent instruction and manipulatives assembled from the child's home. The GFTA-3 was successfully administered to all but three children who did not complete this assessment due to limited expressive vocabularies. Referrals for continued speech therapy based on PLS-5 and GFTA-3 scores were made for 16% of children who received BBC intervention from infancy as compared to 40% and 57% of children who began BBC at 15 months of age or did not receive BBC intervention, respectively. CONCLUSIONS: With extended time and accommodations from the standardized administration guidelines, virtual assessment of speech and language was possible. However, given the inherent challenges of testing very young children virtually, in-person assessment is recommended, when possible, for outcome measurements.

Precision Medicine as a New Frontier in Speech-Language Pathology: How Applying Insights From Behavior Genomics Can Improve Outcomes in Communication Disorders.

PURPOSE: Precision medicine is an emerging intervention paradigm that leverages knowledge of risk factors such as genotypes, lifestyle, and environment toward proactive and personalized interventions. Regarding genetic risk factors, examples of interventions informed by the field of medical genomics are pharmacological interventions tailored to an individual's genotype and anticipatory guidance for children whose hearing impairment is predicted to be progressive. Here, we show how principles of precision medicine and insights from behavior genomics have relevance for novel management strategies of behaviorally expressed disorders, especially disorders of spoken language. METHOD: This tutorial presents an overview of precision medicine, medical genomics, and behavior genomics; case examples of improved outcomes; and strategic goals toward enhancing clinical practice. RESULTS: Speech-language pathologists (SLPs) see individuals with various communication disorders due to genetic variants. Ways of using insights from behavior genomics and implementing principles of precision medicine include recognizing early signs of undiagnosed genetic disorders in an individual's communication patterns, making appropriate referrals to genetics professionals, and incorporating genetic findings into management plans. Patients benefit from a genetics diagnosis by gaining a deeper and more prognostic understanding of their condition, obtaining more precisely targeted interventions, and learning about their recurrence risks. CONCLUSIONS: SLPs can achieve improved outcomes by expanding their purview to include genetics. To drive this new interdisciplinary framework forward, goals should include systematic training in clinical genetics for SLPs, enhanced understanding of genotype-phenotype associations, leveraging insights from animal models, optimizing interprofessional team efforts, and developing novel proactive and personalized interventions.

Feasibility of a Proactive Parent-Implemented Communication Intervention Delivered via Telepractice for Children With Classic Galactosemia.

PURPOSE: This study evaluated the feasibility of Babble Boot Camp (BBC) for use with infants with classic galactosemia (CG) starting at less than 6 months of age. BBC is a parent-implemented intervention delivered by speech-language pathologists (SLPs) entirely via telepractice with the potential to increase access to early preventative interventions. We evaluated BBC feasibility based on acceptability, implementation, and practicality. METHOD: We obtained data from 16 parents of infants with CG (mean age at enrollment = 3.38 months) involved in a large randomized clinical trial of BBC. BBC uses a teach-model-coach-review approach to provide parents with strategies to support their child's communication development. Families completed, on average, eighty-one 15-min sessions over a 20-month intervention period. We drew data from surveys completed by parents at the end of the intervention period, intervention logs maintained by the SLPs, and intervention fidelity checks completed by research assistants. RESULTS: Data drawn from parent surveys, intervention logs, and intervention fidelity checks revealed high parent acceptability, high rates of completion and compliance, and low costs in terms of parent and clinician time. CONCLUSION: Results suggest that BBC is feasible for families of infants with CG, warranting further examination of BBC across a broader range of children with CG as well as other infants who are at predictable risk for speech and language impairment.

Translating principles of precision medicine into speech-language pathology: Clinical trial of a proactive speech and language intervention for infants with classic galactosemia.

Precision medicine is an emerging approach to managing disease by taking into consideration an individual's genetic and environmental profile toward two avenues to improved outcomes: prevention and personalized treatments. This framework is largely geared to conditions conventionally falling into the field of medical genetics. Here, we show that the same avenues to improving outcomes can be applied to conditions in the field of behavior genomics, specifically disorders of spoken language. Babble Boot Camp (BBC) is the first comprehensive and personalized program designed to proactively mitigate speech and language disorders in infants at predictable risk by fostering precursor and early communication skills via parent training. The intervention begins at child age 2 to 5 months and ends at age 24 months, with follow-up testing at 30, 42, and 54 months. To date, 44 children with a newborn diagnosis of classic galactosemia (CG) have participated in the clinical trial of BBC. CG is an inborn error of metabolism of genetic etiology that predisposes up to 85% of children to severe speech and language disorders. Of 13 children with CG who completed the intervention and all or part of the follow-up testing, only one had disordered speech and none had disordered language skills. For the treated children who completed more than one assessment, typical speech and language skills were maintained over time. This shows that knowledge of genetic risk at birth can be leveraged toward proactive and personalized management of a disorder that manifests behaviorally.

Appetite-guided approach to pediatric enteral tube weaning in the home setting: A pilot study.

BACKGROUND: Infants and children, who temporarily use feeding tubes to maintain body composition and growth, often have difficulty resuming oral feeds once medically stable. We report survey results from Growing Independent Eaters (GIE), an interdisciplinary approach providing home-based virtual support during a child-led appetite-guided enteral wean. METHOD: Surveys addressing participant wean success, weight, and feeding practices were sent to 76 families who participated in a GIE-led wean; 31 surveys were completed and returned. RESULTS: All participants who were not eating or drinking orally prewean were fully or partially weaned off enteral support. Infants weaned faster (37.7 days) than children (80.1 days). Mean weight loss during the intervention was 6.6% for infants and 5.9% for children. Six months postwean, 93% of participants surpassed their prewean weight. CONCLUSION: The GIE method was successful for weaning infants and children off enteral support.

Acute and early developmental outcomes of children with Duarte galactosemia.

A recent study demonstrated that children with Duarte galactosemia (DG) do not show increased prevalence of detectable developmental complications when 6-12 years old. However, that study left unanswered whether infants with DG might be at increased risk for acute problems when drinking milk or whether children with DG younger than 6 years might show increased prevalence of perhaps transient developmental challenges. Here, we have addressed both of these questions by analyzing parent/guardian-reported data collected retrospectively for 350 children, 206 with DG and 144 unaffected siblings from the same families. The variables analyzed included whether each child had experienced (1) acute complications in infancy, (2) early intervention services when <3 years old, and/or (3) special educational services when 3-5 years old. For each case-control comparison, or case-by-diet comparison, we used logistic regression that included the following potential covariates: age, sex, race, family income, and parent education, as appropriate. We found that none of the three outcome variables tested showed significant differences between cases and controls, or among cases as a function of galactose exposure in infancy. To the limits of our study, we therefore conclude that regardless of whether a child with DG drinks milk or low-galactose formula as an infant, they are not at increased risk for acute complications or early childhood developmental challenges that require intervention.

Toward Preventing Speech and Language Disorders of Known Genetic Origin: First Post-Intervention Results of Babble Boot Camp in Children With Classic Galactosemia.

Purpose Babble Boot Camp (BBC) is a package of proactive activities and routines designed to prevent speech and language disorders in infants at predictable risk. It is implemented via parent training and currently undergoing clinical trial in children with a newborn diagnosis of classic galactosemia (CG), a metabolic disease with high risk of speech and language disorders. The purpose of this study is to provide updates to a previous pilot study and to present the first set of post-intervention results. Method The intervention and data collection occurred during child ages < 6-24 months, with follow-up assessments of speech and language at ages 2.5 and 3.5 years. Treatment targets included earliest vocalization rates, babble complexity, speech production accuracy, and vocabulary and syntactic growth. The oldest 15 children with CG (including three untreated controls) completed the first set of follow-up assessments. Aggregate data up to 10 months were available for 17 treated children with CG, six untreated children with CG, and six typical controls. Results At ages 7-9 months, babbling complexity, as measured with mean babbling level, was higher in the treated children with CG than in the untreated children with CG and the typical controls. Prior to 24 months of age, the treated children with CG had greater expressive but not receptive vocabulary sizes than an untreated control. Follow-up testing showed typical language scores for all 12 treated children with CG and typical articulation scores for 11 of these, whereas one of three untreated children with CG had low articulation and expressive language scores. Conclusions The BBC appears to be a viable intervention to support the speech and expressive language development of children with GC. Future studies will evaluate the relative contributions of the earliest and later BBC components to outcomes.

Hand fine motor control in classic galactosemia.

Classic galactosemia (CG) is a rare inborn error of metabolism that results from profound deficiency of galactose-1-P uridylyltransferase (GALT). Despite early detection and rapid and lifelong dietary restriction of galactose, which is the current standard of care, most patients grow to experience a broad range of complications that can include motor difficulties. The goal of this study was to characterize hand fine motor control deficit among children and adults with classic galactosemia (CG). Specifically, we used Neuroglyphics software to collect digital Archimedes spiral drawings on a touch screen from 57 volunteers with CG (cases) and 80 controls. Hand fine motor control was scored as root mean square (RMS) of spirals drawn relative to an idealized template. Presence of tremor was defined as a peak in periodicity of changes in drawing speed or direction in the 4-8 Hz range. We observed a highly significant difference (P < .001) in RMS scores between cases and controls, with almost 51% of cases showing at least 1 of 4 spirals scoring outside the 95th percentile for controls. The corresponding prevalence for controls was 10%. Similarly, more than 35% of cases, and almost 14% of controls, showed at least 1 of 4 spirals with a tremor amplitude above the 95th % cutoff for controls. Our results both confirm and extend what is known about hand fine motor control deficit among children and adults with CG and establish digital assessment as a useful approach to quantify this outcome.

Developmental Changes in Tongue Strength, Swallow Pressures, and Tongue Endurance.

Maximum tongue strength, mean swallow pressures, and tongue endurance were measured in 324 children ages 6-12 years. The purpose of this study was to measure saliva swallow pressures in absolute terms (i.e., kilopascals) and as a percentage of maximum tongue strength to determine functional reserve in across ages in children and to examine factors that may influence tongue strength and swallow pressures including age, tongue endurance, and tongue-tie. The study results showed that maximum tongue strength and swallow pressures increased with age, while tongue endurance did not. Swallow pressures averaged 44% of maximum tongue strength across ages, indicating that children typically have a functional reserve of 56%. Tongue strength and swallow pressures were not decreased in the 20 children with tongue-tie. A sample clinical case is discussed.

Tongue Strength in Children With and Without Speech Sound Disorders.

Purpose The purpose of this cross-sectional investigation was to expand the comparative database of pediatric tongue strength for children and adolescents with typical development, ages 3-17 years, and compare tongue strength among children with typical development, speech sound delay/disorders (SD), and motor speech disorders (MSDs). Method Tongue strength was measured using the Iowa Oral Performance Instrument in a total of 286 children and adolescents, 228 with typical development, 16 with SD, and 42 with MSDs, including classic galactosemia, a known risk factor for MSD ( n = 33) and idiopathic MSD ( n = 9). Results For all groups, tongue strength increased rapidly from 3 to 6.5 years of age and then continued to increase with age at a slower rate until 17 years of age. Children with SD's tongue strength did not differ from their typically developing (TD) peers. Children and adolescents with MSDs had decreased tongue strength compared to children with typical development or SD. Tongue strength was not related to severity of speech sound disorders in SD or MSD. Conclusion Weak tongue strength does not appear to contribute to speech errors in children with speech sound delays but does appear to be related to speech sound disorders that are neurologic in origin (developmental MSD).

Developmental Outcomes in Duarte Galactosemia.

: media-1vid110.1542/5849572227001PEDS-VA_2018-2516Video Abstract 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.

Toward a paradigm shift from deficit-based to proactive speech and language treatment: Randomized pilot trial of the Babble Boot Camp in infants with classic galactosemia.

Background: Speech and language therapy is typically initiated reactively after a child shows delays. Infants with classic galactosemia (CG), a metabolic disease with a known high risk for both speech and language disorders, hold the keys towards evaluating whether preventive treatment is effective when the risks are known at birth. We present pilot data from a randomized parallel trial of an innovative proactive speech and language intervention program, the Babble Boot Camp (BBC).  Method: Five children with CG, otherwise healthy, participated in the study from approximately 2 to 24 months of age. One of these was randomly selected as control receiving conventional management, which typically starts at age 2-3 years. A pediatric speech-language pathologist met weekly via telepractice with the parents in the treatment cohort. Parents implemented the prespeech, speech, and language stimulation and expansion activities according to the intervention protocol. The control child was still too young for conventional treatment. Primary outcome measures were speech sound production complexity in babble and speech and expressive vocabulary size. Secondary outcome measures were vocalization rates and developmental milestones in communication, motor, and cognition. The trial is ongoing. Results:  All four treated children had higher speech sound skills in babble, three had higher speech sound skills in meaningful speech, two had higher expressive vocabularies, three had higher global developmental scores, and two had higher vocalization rates, compared to the control child with CG. Discussion: Given the high risk for speech and language delays in children with CG, finding on-schedule abilities in two or more of the treated children but not the untreated child is unexpected under random conditions. The trends toward beneficial effects of the BBC on speech sound production, expressive language, and communication milestones warrant appropriately powered larger clinical trials with full randomization. Trial registration: ClinicalTrials.gov NCT03838016 (12 th February 2019).

International clinical guideline for the management of classical galactosemia: diagnosis, treatment, and follow-up.

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.