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

Abstract

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.

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

“…Consistent with previous observations 65 , 72 , 73 and the Irish comparison data, receptive language skills as measured with the Auditory Comprehension subtest of the PLS-5 were within typical levels for all children with CG, regardless of whether they had received the speech/language intervention or not. Similar to the speech production outcomes, outcomes were maintained over multiple assessment timepoints.…”

“…As previously described, 72 , 73 progress is monitored closely throughout the intervention phase (<6 to 24 months) in multiple ways. Once monthly, parents create a day-long audio recording using the Language Environment Analysis (LENA) recording system (LENA Research Foundation, Boulder, CO).…”

“…No deficits in receptive language were noted, consistent with previous observations that mainly expressive language is affected by CG. 65 , 72 , 73 Of the 11 children, five (45.4%) were flagged as having an expressive language delay. The proportion of children with language delays is in line with data reported elsewhere for older children regarding language delays.…”

“…Disordered language is seen in 50%–78% of children with CG, 65 , 66 , 68 compared with 7%–10% of children generally. 10 Regarding language development, comprehension is affected less by CG than expression 72 , 73 ; mainly, children with CG who have cognitive delays tend to also have delays in language comprehension. 65 Even at the earliest stages, there are some red flags for difficulties with speech and language: many children with CG do not meet cooing and babbling milestones, 74 , 75 , 76 and they are late in producing their first words.…”

A case with cardiac, skeletal, speech, and motor traits narrows the subtelomeric 19p13.3 microdeletion region to 46 kb

“…A better understanding of the genotype–phenotype associations regarding communication and motor skills can lead to the development of proactive interventions based on an early genetic diagnosis instead of overt manifestations of deficits that typically cannot be diagnosed until children are older, for example, age 2–3 years for disorders of speech and language. An example of such an intervention is the Babble Boot Camp©, designed for infants at predictable risk for speech and language disorders based on a newborn diagnosis of classic galactosemia and confirmation with genotyping (Peter et al, 2019, 2021, 2022). The intervention is implemented by a speech‐language pathologist via parent training, with a focus on precursor and earliest communication skills.…”