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

Abstract

<ns4:p><ns4:bold>Background:</ns4:bold> 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). </ns4:p><ns4:p> <ns4:bold>Method</ns4:bold>: 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.</ns4:p><ns4:p> <ns4:bold>Results</ns4:bold>: 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.</ns4:p><ns4:p> <ns4:bold>Discussion:</ns4:bold> 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.</ns4:p><ns4:p> <ns4:bold>Trial registration: </ns4:bold>ClinicalTrials.gov <ns4:ext-link xmlns:ns3="http://www.w3.org/1999/xlink" ext-link-type="uri" ns3:href="https://clinicaltrials.gov/ct2/show/NCT03838016">NCT03838016</ns4:ext-link> (12 <ns4:sup>th</ns4:sup> February 2019).</ns4:p>

Current and Future Treatments for Classic Galactosemia

“…The other interesting approach is the Babble Boot Camp (BBC), which is focused on a proactive speech and language intervention program [ 146 ]. Current guidelines recommend regular extensive screening for speech and language delay, if children do not meet appropriate levels of speech or language treatment is initiated preferably during the first year of life [ 111 ].…”

“…Current guidelines recommend regular extensive screening for speech and language delay, if children do not meet appropriate levels of speech or language treatment is initiated preferably during the first year of life [ 111 ]. However, since speech and language can be regarded as later-developing skill, deficits and signs of delay will only become apparent after an age greater than 24 and 36 months, respectively [ 111 , 146 ]. This approach focuses on a preventive intervention program starting at 2 to 4 months of age and consisting of active parental involvement guided by an expert speech language pathologist.…”

“…This approach focuses on a preventive intervention program starting at 2 to 4 months of age and consisting of active parental involvement guided by an expert speech language pathologist. Although the results are preliminary and generalizations cannot be made, a trend to beneficial effects on speech and language development was shown [ 146 ].…”

The Need for Increased Study of Infants and Toddlers Later Diagnosed With Childhood Apraxia of Speech

“…Other researchers propose therapy techniques for infants and young toddlers to include encouraging vocalizations and communication more broadly, expanding phonetic inventory, and the use of various syllable shapes (Davis & Velleman, 2000;Fish, 2016). A Babble Boot Camp conducted between 2-24 months for infants with classic glactosemia revealed an increase in the infants' babbling and meaningful speech when parents engaged in daily reinforcement of their infant's babbling, expanding utterances, and shared with their infant in joint book reading (Peter et al, 2020). Shriberg and colleagues (2011) reported that children with glactosemia have higher prevalence rates of CAS (24%) compared to the general population (0.1-0.2%).…”

Identification of neuronal structures and pathways corresponding to clinical functioning in galactosemia

“…Early treatment reverses the acute manifestations of galactosemia; however, even with treatment, the disease can still cause most patients to develop life-long health complications of the central nervous system in both sexes 5 and primary ovarian insufficiency in women. 6 The majority of the patients present with some cognitive difficulties which increase with age in cross-sectional studies 1,5 but not in longitudinal studies, 7,8 learning disabilities, 9 speech and language disorders, [10][11][12][13][14][15] including apraxia of speech or verbal dyspraxia, 14,16,17 delay in social development, 18,19 and motor dysfunction. 20 These impairments are observed in many patients with galactosemia irrespective of timing of treatment onset and degree of galactose restriction.…”