Nurturing Early Language Skills Prevents the Behavioral Expression of a Genetic Trait

Hard liquor has a long history of medicinal use in infants. Since the mid-1800s, alcohol was added to teething medications and colic remedies based on the misguided belief that it was “the most valuable sedative and hypnotic drug…for infants and young children.”1,2 This broad-strokes approach to the practice of medicine inspired the use of cognac-infused tea for treating the first reported case of galactosemia in 19083—an inherited disorder characterized by the inability to convert the milk sugar galactose into glucose. The infant treated with hot toddies later died of complications, including liver cirrhosis that was likely due to the combined effects of the alcohol and disease progression.

Two babies engaged in conversation, with one shouting in the other’s ear

A new boot camp for babies may prevent speech and language disorders in those diagnosed with a genetic condition that prevents milk sugar metabolism.

Improperly metabolized galactose is toxic, leading to liver damage, blood sugar dysregulation, vision deficits, blood infections, and death. Over the years, a thorough understanding of the genetic and metabolic mechanisms of galactosemia, newborn genetic screening, and early intervention vastly improved infant outcomes. Yet, despite early detection and elimination of dietary galactose, infants with galactosemia are at high risk for learning and developmental delays, intellectual disabilities, motor deficits, and severe speech and language disorders.4,5,6,7

In a recent study published in Human Genetics and Genomics Advances, Beate Peter, a speech-language pathologist and associate professor at Arizona State University’s College of Health Solutions, and her team examined whether their preventative communication program—Babble Boot Camp—improves the speech and language proficiency of babies diagnosed with galactosemia.8 “Our work is proactive and preventative. In the world of speech-language pathology, that’s typically not done. You wait until the child shows problems and then you intervene,” Peter said. “Children with galactosemia, even though their risk is known, do not get assessed until age two or three when they qualify for treatment. But they still have this lifelong struggle with speech and language.” 

This study is part of an ongoing clinical trial by Peter’s team that tests the Babble Boot Camp program for infants diagnosed with galactosemia. Babies enter the study between the ages of 2 and 5 months. Their parents are trained to stimulate their children’s early speech and language development by reinforcing babbling sounds and other communication and interpersonal skills. The program lasts until children reach 24 months of age and their progress is tracked using monthly day-long audio recordings, questionnaires, and follow-up assessments by speech-language pathologists at 30, 42, and 54 months. Among the goals is to encourage babies to babble more often and with increasing complexity, and boost their vocabulary, sentence, and conversation skills as toddlers.

In this preliminary study, Peter’s team found that none of the thirteen children who were assessed after completing the Babble Boot Camp program had a language disorder, and only one was diagnosed with a speech disorder. An additional 31 infants and toddlers are at various stages of completing the Babble Boot Camp intervention and assessment. “Our study will run for another two years,” Peter said. “The more children we can report on, the clearer the picture gets. If we can state without a doubt that the Babble Boot Camp is effective in preventing speech and language disorders in a population of children at high risk, then the hope is that our approach will become standard of care.” 

A young boy celebrates his language skills by giving two thumbs up in front of a chalkboard with “hello” written in many languages

Early intervention for speech disorders is critical to long-term speech and language development, but waiting until deficits in speech and language become apparent may be too late.

Peter’s team envisions using Babble Boot Camp to proactively treat infants with other known risk factors for speech and language disorders, such as autism, Down syndrome, premature birth, and substance withdrawal syndromes. “The study provides preliminary evidence that genetic risk factors may be sufficient for early identification of a treatment need,” said Valerie McDaniel, a speech-language pathologist and assistant professor at the University of the Pacific, who was not involved in this study.

Galactosemia management has come a long way since the first reported case in the early 1900s, as medical science evolved to prioritize a precise, personalized approach to disease prevention and treatment. Peter’s team showed that advanced knowledge of genetic risk can also inform preventative solutions to behavioral problems—a win for nurture over nature. Peter emphasized that “how a child develops is not only dependent on any gene, but on a complex set of environmental factors.”

See the full podcast description here, “A Scientific Figure of Speech”

References

  1. M.E. Harding, “Discussion on the value of alcohol as a therapeutic agent”, Proc R Soc Med, 13(Ther Pharmacol Sect):56-7, 1920.
  2. H. Guly, “Medicinal brandy,” Resuscitation, 82(7):951-54, 2011.
  3. A. von Reuss, “Zuckerausscheidung im Säuglingsalter,” Wien. med. Wschr, 58:799, 1908. 
  4. M.E. Rubio-Gozalbo et al., “The natural history of classic galactosemia: lessons from the GalNet registry,” Orphanet J Rare Dis, 14(1):86, 2019. 
  5. J. Hughes et al., “Outcomes of siblings with classical galactosemia,” J Pediatr, 154(5):721-6, 2009.
  6. D.D. Waggoner et al., “Long-term prognosis in galactosaemia: results of a survey of 350 cases,” J Inherit Metab Dis, 13(6):802-18, 1990.
  7. M.M. Welsink-Karssies et al., “Classical galactosemia: neuropsychological and psychosocial functioning beyond intellectual abilities,” Orphanet J Rare Dis, 15(1):42, 2020.
  8. B. Peter et al., “Translating principles of precision medicine into speech-language pathology: Clinical trial of a proactive speech and language intervention for infants with classic galactosemia,” HGG Adv, 3(3):100119, 2022.
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Source: the-scientist.com

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