Preventing Speech and Language Disorders in Children With Classic Galactosemia

Speech Disorders in Children Clinical Trial

Official title:

Babble Boot Camp: Preventing Speech and Language Disorders in Children With Classic Galactosemia

Clinical Trial Details — Status: Enrolling by invitation

Administrative data

• NCT number: NCT03838016
• Other study ID #: STUDY00004969
• Status: Enrolling by invitation
• Phase: N/A
• Start date: May 1, 2019
• Est. completion date: August 1, 2025

Study information

• Verified date: July 2023
• Source: Arizona State University
• Contact: n/a
• Is FDA regulated: No
• Study type: Interventional

Clinical Trial Summary

A critical knowledge gap is whether proactive intervention can improve speech and language outcomes in infants at known risk for communication disorders. Speech and language assessments and treatments are usually not initiated until deficits can be diagnosed, no earlier than age 2-3 years. Preventive services are not available. Children with classic galactosemia (CG) hold the keys towards investigating whether proactive services are more effective than conventional management. CG is a recessively inherited inborn error of metabolism characterized by defective conversion of galactose. Despite early detection and strict adherence to lactose-restricted diets, children with CG are at very high risk not only for motor and learning disabilities but also for severe speech sound disorder and language impairment. Delays are evident from earliest signals of communication and persist into adulthood in many cases but speech/language assessment and treatment are usually not initiated until deficits manifest. However, because CG is diagnosed via newborn screening, the known genotype-phenotype association can be leveraged to investigate the efficacy of proactive interventions during the acquisition of prespeech (2 to 12 months) and early communication skills (13 to 24 months). If this proactive intervention is more effective than standard care regarding speech and language outcomes in children with CG, this will change their clinical management from deficit-based to proactive services. It will also motivate investigating this approach in infants with other types of known risk factors, e.g., various genetic causes and very low birth weight.

The Babble Boot Camp is a program for children with CG, ages 2 to 24 months. The intervention is implemented by a pediatric speech-language pathologist (SLP) via parent training. Activities and routines are designed to foster earliest signals of communication, increase coo and babble behaviors, support the emergence of first words and word combinations, and expand syntactic complexity. The SLP meets with parents online every week for 10 to 15 minutes to provide instruction, feedback, and guidance. Close monitoring of progress is achieved via regularly administered questionnaires, a monthly day-long audio recording, and the SLPs weekly progress notes. At age 24 months, the active phase of the Babble Boot Camp ends. The children receive a professional speech/language assessment at ages 2 1/2, 3 1/2, and 4 1/2 years.

Description:

Speech and language assessments and treatments are usually not initiated until deficits can be diagnosed, which occurs at age 2-3 years at the earliest. Preventive services are not available. Children with classic galactosemia (CG) hold the keys towards investigating whether proactive services are more effective than conventional management. CG is a recessively inherited inborn error of metabolism characterized by defective conversion of galactose. Despite early detection and strict adherence to lactose-restricted diets, children with CG are at very high risk not only for motor and learning disabilities but also for severe speech sound disorder and language impairment. Delays are evident from earliest signals of communication and persist into adulthood in many cases. As with most other children, speech and language assessments and treatment are usually not initiated until deficits manifest. However, because CG is diagnosed via newborn screening, the known genotype-phenotype association can be leveraged to investigate whether proactive interventions during the acquisition of prespeech (2 to 12 months) and early communication skills (13 to 24 months) can mitigate the speech and language deficits. If the investigators show that interventions during the first two years of life are more effecting in improving speech and language outcomes in children with CG, compared to traditional care, this will change their clinical management from deficit-based to proactive services. It will also motivate investigating this approach in infants with other types of known risk factors for communication disorders, e.g., various genetic causes and very low birth weight.

The investigators created an intervention program designed to support communication abilities during the prespeech and early speech and language stages for ages 2 to 24 months. The Babble Boot Camp (BBC) is implemented via parent training by a speech-language pathologist (SLP) with expertise in early childhood using Zoom, a HIPAA-compliant telepractice software provided for free by the PI's institution, to connect with the families. Zoom runs on computers, tablets, and smartphones. Parents learn about the typical milestones of prespeech, speech, and language development, potential red flags for delays, and importantly, activities that support typical development for all stages of the program. Following an orientation to the program, the SLP meets with each family once per week for training and consultation the relevant activities given the child's current speech/language status. Examples of activities are stimulating and reinforcing coos and babble, enriching the child's linguistic environment with joint book reading and pointing out the names of objects, and expanding child utterances to provide slightly more complex model sentences. The key principle underlying all activities is the zone of proximal development, also referred to as scaffolding, where parents provide speech and language models that bridge what the child can already to and what is slightly beyond the child's skill set: the model is in the zone of skills that the child can do with help. One key skill that is targeted throughout the program is imitation. The program brochure includes the rationale, instructions, and examples for each activity, such as (direct quote from the brochure): "Expanding on your child's utterance will provide a model for more complex sentence structures as well as increase her/his vocabulary. An added benefit is to let your child hear words in their correctly produced forms when her/his own productions are showing some incorrect speech sounds. This will build your child's awareness of what the word should sound like and get her/him ready to try the correct form. Throughout your daily routine, listen to your child's utterances and expand upon them slightly. You can add descriptive words or fill in some missing words to make a more complete sentence without overwhelming your child's ability to comprehend your sentence.

Examples: Child: "Goggie bye-bye." Parent: "Yeah, that doggie is going bye-bye!" - Child:

"Mommy doing?" Parent: "What is Mommy doing? She is taking Sammie outside."

Recruitment information / eligibility

• Status: Enrolling by invitation
• Enrollment: 309
• Est. completion date: August 1, 2025
• Est. primary completion date: August 1, 2024
• Accepts healthy volunteers: No
• Gender: All
• Age group: 2 Months to 54 Months

Eligibility

Inclusion Criteria:

• Newborn diagnosis of classic galactosemia

• Any ethnic or racial background

• Primary language in the home is English

• Any geographic region in the US and other countries because the intervention is done online

• Computer and internet access (we can help if a family wants to participate but doesn't have this access)

• At least one parent must have at least an 8th grade education to be able to fill out the questionnaires

Exclusion Criteria:

• Other forms of galactosemia outside of classic galactosemia

• Medical, sensory, or psychiatric condition that could introduce confounding, e.g., Trisomy 21 or deafness

Related Conditions & MeSH terms

• Classic Galactosemia
• Galactosemias
• Language Disorders
• Language Disorders in Children
• Speech Disorders
• Speech Disorders in Children

Intervention

Behavioral:
• Babble Boot Camp
The Babble Boot Camp is an experimental study to investigate whether earliest and proactive activities and routines can positively influence the speech and language development of children who were diagnosed with classic galactosemia at birth. A speech-language pathologists implements the intervention by teaching parents to foster and expand earliest signals of communication, prespeech activities such as coo and babble, vocabulary growth, sentence complexity, and use of language to communicate. Examples are intentional eye contact, reinforcing babble with rewarding play activities, and repeating a child's rudimentary sentence with slight expansions to scaffold longer sentences.

Locations

Country	Name	City	State
United States	Arizona State University	Tempe	Arizona

Sponsors (2)

Lead Sponsor	Collaborator
Arizona State University	Washington State University

Country where clinical trial is conducted

United States, 

References & Publications (31)

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Peter B, Bruce L, Finestack L, Dinu V, Wilson M, Klein-Seetharaman J, Lewis CR, Braden BB, Tang YY, Scherer N, VanDam M, Potter N. Precision Medicine as a New Frontier in Speech-Language Pathology: How Applying Insights From Behavior Genomics Can Improve — View Citation

Peter B, Davis J, Cotter S, Belter A, Williams E, Stumpf M, Bruce L, Eng L, Kim Y, Finestack L, Stoel-Gammon C, Williams D, Scherer N, VanDam M, Potter N. Toward Preventing Speech and Language Disorders of Known Genetic Origin: First Post-Intervention Res — View Citation

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Timmers I, van den Hurk J, Di Salle F, Rubio-Gozalbo ME, Jansma BM. Language production and working memory in classic galactosemia from a cognitive neuroscience perspective: future research directions. J Inherit Metab Dis. 2011 Apr;34(2):367-76. doi: 10.1007/s10545-010-9266-4. Epub 2011 Feb 3. — View Citation

VanDam M, Oller DK, Ambrose SE, Gray S, Richards JA, Xu D, Gilkerson J, Silbert NH, Moeller MP. Automated Vocal Analysis of Children With Hearing Loss and Their Typical and Atypical Peers. Ear Hear. 2015 Jul-Aug;36(4):e146-52. doi: 10.1097/AUD.0000000000000138. — View Citation

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* Note: There are 31 references in all — Click here to view all references

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	Speech sound production accuracy	Standardized testing of speech sounds using a published test of articulation	Through study completion, an average of 4 years 2 months
Primary	Expressive language skills	Standardized testing of expressive language ability, using a published test of child language	Through study completion, an average of 4 years 2 months
Secondary	Cognitive development	Standardized testing of cognitive development, using a published test	Through study completion, an average of 4 years 2 months
Secondary	Quality of life using the PedsQL questionnaires	Questionnaire-based assessment of quality of life for the child and parent(s). Captures physical functioning, physical symptoms, emotional functioning, social functioning, and cognitive functioning for children. Captures physical functioning, emotional functioning, social functioning, and work/school function for adults.	Through study completion, an average of 4 years 2 months
Secondary	Child health and development using the Ages and Stages Questionnaires 3	Questionnaire-based assessment of child development in the areas of communication, gross motor, fine motor, problem solving, and personal-social development for children.	Through study completion, an average of 4 years 2 months