Clinical trial NCT03838016: Preventing Speech and Language Disorders in Children With Classic Galactosemia
Official title: Babble Boot Camp: Preventing Speech and Language Disorders in Children With Classic Galactosemia
Study type: INTERVENTIONAL
Overall status: ACTIVE_NOT_RECRUITING
Phase: EARLY_PHASE1
Conditions: Classic Galactosemia
Speech Disorders in Children
Language Disorders in Children
Lead sponsor: Arizona State University
Sponsor class: OTHER
Collaborators: name: Washington State University
First posted: 2019-02-12
Enrollment: 285
Sex: ALL
Minimum age (years): 2
Maximum age (years): 54
Standard ages: CHILD
Accepts healthy volunteers: no
Allocation: RANDOMIZED
Intervention model: PARALLEL
Intervention model description: The investigators created an intervention program, Babble Boot Camp (BBC), designed to support communication skills during the prespeech and early speech and language stages. One cohort with classic galactosemia (CG) enters this treatment at age 2-5 months and is monitored closely using audio and video recordings and questionnaires. A second cohort with CG enters close monitoring at age 2-5 months but starts treatment at age 15 months. A typical cohort enters close monitoring at age 2-5 months. Treatment and close monitoring ends at age 24 months. Follow-up testing of speech and language skills and questionnaire data about child development and parent well-being is collected once a year at ages 2 ½, 3 ½, and 4 ½ years. A cohort with CG, age 6 months to 4 ½ years, too old for any treatment and close monitoring, provides the same data as the other cohorts at ages 2 ½, 3 ½, and 4 ½ years. Results will show whether the BBC is effective and, if yes, which start age is best.
Primary purpose: TREATMENT

Brief 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.

Detailed 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."

Eligibility criteria: 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

Primary outcomes:
measure: Speech sound production accuracy
timeFrame: Through study completion, an average of 4 years 2 months
measure: Expressive language skills
timeFrame: Through study completion, an average of 4 years 2 months
Secondary outcomes:
measure: Cognitive development
timeFrame: Through study completion, an average of 4 years 2 months
measure: Quality of life using the PedsQL questionnaires
timeFrame: Through study completion, an average of 4 years 2 months
measure: Child health and development using the Ages and Stages Questionnaires 3
timeFrame: Through study completion, an average of 4 years 2 months
Other outcomes:
Locations:
city: Tempe
country: United States
facility: Arizona State University
state: Arizona
Study officials:
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