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

Abstract

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.

Keywords: Babble Boot Camp; clinical trial; disorders of speech and language; genetic risk; medical versus behavior genomics; newborn screening; parent training; proactive instead of deficit-based intervention.

Figure 1

Mean babbling level scores for treated and untreated children with CG and typical controls at ages 10 through 12 months

Figure 2

Scatterplot matrix of mean babbling scores at ages 10 through 12 months, Goldman-Fristoe Test of Articulation 3, and Preschool Language Scales 5 Expressive Communication and Auditory Comprehension subtests GFTA-3, Goldman-Fristoe Test of Articulation 3; PLS-5, Preschool Language Scale 5; BNL, below normal levels; Aud. Compr., auditory comprehension; Expr. Comm., expressive communication; box (□), child with CG who did not receive the intervention but provided continuous data from infancy (data at age 30 months are an estimate based on the mean from age 42 and 54 months).