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

Background: Speech or language therapy is typically initiated reactively after a child starts showing delays. Infants with classic galactosemia (CG), an inborn error of metabolism 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 BBC from approximately 2 to 24 months of age. One of these was randomly selected as control receiving conventional management. 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 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 developmental milestones in communication, motor, and cognition. Outcomes in the treatment cohort were compared to typical children and the control child. 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, and three had higher communication and personal-social skills, 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 (12th February 2019).

Infants’ neural speech discrimination predicts individual differences in grammar ability at 6 years of age and their risk of developing speech-language disorders

“…Given the high prevalence of developmental speech and language disorders and their academic, social-emotional, financial, and vocational impacts later in life, early identification and preventive intervention in infants at risk for communication impairments could mitigate these consequences in childhood and beyond ( NASEM, 2016 ). Preventive approaches for very early identification and treatment of children at risk of communication disorders have already shown promise in improving child outcomes, such as in a pilot study for infants with galactosemia, which is frequently accompanied by expressive language impairments ( Peter et al, 2020 ). The potential for noninvasive approaches such as MEG to assist in identifying children with speech discrimination characteristics that put them at greater risk of speech-language disorders, is worthy of expansion and further exploration as means to make a significantly positive impact on public health.…”

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, 10‐15 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 5,8,10,21‐23 .…”