Parent and Infant Inter(X)Action Intervention (PIXI)

Not Applicable

• Conditions: Fragile X Syndrome; Turner Syndrome; Phelan-McDermid Syndrome; Down Syndrome; Prader-Willi Syndrome; Duchenne Muscular Dystrophy; Klinefelter Syndrome; Dup15Q Syndrome; Smith Magenis Syndrome; Chromosome 22q11.2 Deletion Syndrome
• Interventions: Behavioral: Parent-Infant Inter(X)action Intervention (PIXI)

• Registration Number: NCT03836300
• Lead Sponsor: RTI International

Brief Summary

The objective is to develop and test, through an iterative process, an intervention to address and support the development of infants with a confirmed diagnosis of a neurogenetic disorder with associated developmental delays or intellectual and developmental disabilities. The proposed project will capitalize and expand upon existing empirically based interventions designed to improve outcomes for infants with suspected developmental delays.

Participants will be infants with a confirmed diagnosis of a neurogenetic disorder (e.g., fragile X, Angelman, Prader-Willi, Dup15q, Phelan-McDermid, Rhett, Smith Magenis, Williams, Turner, Kleinfelter, Down syndromes, Duchenne muscular dystrophy) within the first year of life and their parents/caregivers.

The intervention, called the Parent and Infant Inter(X)action Intervention (PIXI) is a comprehensive program inclusive of parent education about early infant development and the neurogenetic disorder for which they were diagnosed, direct parent coaching around parent-child interaction, and family/parent well-being support. The protocol includes repeated comprehensive assessments of family and child functioning, along with an examination of feasibility and acceptability of the program.

Detailed Description

The primary goal of the proposed project is to develop and test, through an iterative process, an intervention to address and support the development of infants with a rare neurogenetic condition (e.g., fragile X, Angelman, Prader-Willi, Dup15q, Phelan-McDermid, Rhett, Smith Magenis, Williams, Turner, Kleinfelter, Down syndromes, Duchenne muscular dystrophy) identified prior to emergence of symptoms. PiXI aims to utilize the foundational knowledge available around the development of and early intervention for at-risk infants to both understand the needs of and provide intervention services for families of infants diagnosed pre-symptomatically with rare neurogenetic disorders.

The investigators aim to 1) develop PIXI with a pilot sample of families, 2) test the preliminary effects of PIXI on infant and parent outcomes

Study Timeline

• Study Start: 2018-11-30
• Study First Submitted: 2019-02-07
• Study First Submitted QC: 2019-02-07
• Study First Posted: 2019-02-11
• Status Verified: 2024-04
• Last Update Submitted: 2025-04-03
• Last Update Posted: 2025-04-06
• Primary Completion: 2026-06-30
• Study Completion: 2026-12-31

Recruitment & Eligibility

• Status: ENROLLING_BY_INVITATION
• Sex: All
• Target Recruitment: 120

Inclusion Criteria

• Infants 15 months of age or younger who have received a diagnosis which was not sought solely due to parental concerns about the infant (e.g. diagnosis due to prenatal or newborn screening, cascade testing following diagnosis of a family member).
• English must be the primary language spoken in the home because all assessment measures and intervention protocol are in English.

Exclusion Criteria

• Infants may not be blind or have a severe hearing impairment as the intervention and assessments are not appropriate for these children.

Study & Design

• Study Type: INTERVENTIONAL
• Study Design: SINGLE_GROUP

Arm && Interventions

Group	Intervention	Description
Infants with a rare neurogenetic condition and their parent/primary caregiver(s)	Parent-Infant Inter(X)action Intervention (PIXI)	PIXI

Primary Outcome Measures

Name	Time	Method
Fidelity	Completion of Phase 2 (approximately twelve months of age)	Overall intervention fidelity will be measured by determining if the following goals were achieved: Enrollment target of 10-15 families 80% retention rate with at least 75% completing the 20 sessions across Phase 1 and Phase 2
Social Validity and Acceptability	Completion of Phase 2 (approximately twelve months of age)	A social validity measure will be completed to better understand to inquire about family satisfaction with aspects of the intervention including curriculum, timing, goals targeted, and perceived effects of the intervention. Qualitative interviewing will be also be conducted to examine parent perceptions of feasibility and acceptability.

Secondary Outcome Measures

Name	Time	Method
Autism Symptoms	Completion of Phase 1 (approximately 6-months of age) and completion of follow-up (approximately 36-months of age)	A combination of measures will be used across study engagement to assess parent reported autism symptomology. These measures include the Repetitive Behavior Scales (RBS). The RBS-EC is a questionnaire measure of restricted and repetitive behaviors designed for use in children from infancy through early school age. It is intended to capture individual differences across a broad range of behaviors associated with the repetitive behavior domain. Total scores range from 0-136 with a higher score indicating greater need/presence of behaviors.
Early Developmental Outcomes	Completion of Phase 1 (approximately 6-months of age) and completion of follow-up (approximately 36-months of age)	Descriptive statistics around early learning, motor, communication skills, interpersonal, and adaptive skills in the sample will be derived from the Vineland Adaptive Behavior Scales, Third Edition: Parent/Caregiver Report (Vineland-3). Subdomain v-Scaled scores range from 1-24 with higher numbers indicating greater performance; while domain scores are presented in standard score formats with a range of 20-140 with higher scores indicating greater performance.
Parent Implementation and Engagement	Across phase 1 and phase 2 engagement (approximately ages 6-months through 1-year of age)	Internal parent implementation and engagement forms will be used to measure parent participation across both intervention phases. These components include parent readiness for the session, attention to materials, participation in topic discussion, appropriateness of intervention activity practice, and general presentation with their child.

Trial Locations

Locations (1)

RTI International; 🇺🇸 Research Triangle Park, North Carolina, United States