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

Piloting an Early Intervention Program for Infants With Rare Neurogenetic Disorders

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.

Study Overview

• Status: Enrolling by invitation
• Conditions: Tuberous Sclerosis; Down Syndrome; Duchenne Muscular Dystrophy; Prader-Willi Syndrome; Fragile X Syndrome; Rett Syndrome; Turner Syndrome; Williams Syndrome; Angelman Syndrome; Chromosome 22q11.2 Deletion Syndrome; Klinefelter Syndrome; Phelan-McDermid Syndrome; Dup15Q Syndrome; Smith Magenis Syndrome
• Intervention / Treatment: Behavioral: Parent-Infant Inter(X)action Intervention (PIXI)

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 Type: Interventional
• Enrollment (Estimated): 120
• Phase: Not Applicable

Contacts and Locations

Study Locations

• United States
  • North Carolina
    • Research Triangle Park, North Carolina, United States, 27709
      • RTI International

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: No older than 99 years (Child, Adult, Older Adult)
• Accepts Healthy Volunteers: Yes

Description

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 Plan

How is the study designed?

Design Details

• Primary Purpose: Treatment
• Allocation: N/A
• Interventional Model: Single Group Assignment
• Masking: None (Open Label)

Number of Arms

1

Arms and Interventions

Participant Group / Arm	Intervention / Treatment
Experimental: Infants with a rare neurogenetic condition and their parent/primary caregiver(s); PIXI	Behavioral: Parent-Infant Inter(X)action Intervention (PIXI); Psychoeducation around the diagnosed disorder, early development, and service navigation along with parent-child interaction activities, parent coaching, and family/parent well-being support.

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Social Validity and Acceptability	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.	Completion of Phase 1 (approximately six months of age)
Social Validity and Acceptability	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.	Completion of Phase 2 (approximately twelve months of age)
Fidelity	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	Completion of Phase 1 (approximately six months of age)
Fidelity	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	Completion of Phase 2 (approximately twelve months of age)

Secondary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Parent Implementation and Engagement	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.	Across phase 1 and phase 2 engagement (approximately ages 6-months through 1-year of age)
Early Developmental Outcomes	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.	Completion of Phase 1 (approximately 6-months of age) and completion of follow-up (approximately 36-months of age)
Autism Symptoms	A combination of measures will be used across study engagement to assess parent reported autism symptomology. These measures include the Communication and Symbolic Behavior Scale (CSBS). The parent report developmental profile is a standardized measure is completed to evaluate language and social communication predictors. A total of 57 points are available with age corresponding cutoff scores for clinical concern.	Completion of Phase 1 (approximately 6-months of age) and completion of follow-up (approximately 36-months of age)
Autism Symptoms	A combination of measures will be used across study engagement to assess parent reported autism symptomology. These measures include the Modified Checklist for Autism in Toddlers (MCHAT). The Modified Checklist for Autism in Toddlers is a scientifically validated tool for screening children between 16 and 30 months of age that assesses risk for autism spectrum disorder (ASD).Scores range from 0-20 with corresponding ranges for cutoff scores warranting further follow-up.	Completion of Phase 1 (approximately 6-months of age) and completion of follow-up (approximately 36-months of age)
Autism Symptoms	A combination of measures will be used across study engagement to assess parent reported autism symptomology. These measures include the Autism Diagnostic Observation Schedule, Second Edition (ADOS-2). The ADOS-2 is a semi-structured, standardized assessment of communication, social interaction, play, and restricted and repetitive behaviors. It is directly administered to the participant and behaviors are scored. Total scores range based on age of participant/module administered. Scores are calculated and compared against cutoff scores for autism spectrum and autism.	Completion of Phase 1 (approximately 6-months of age) and completion of follow-up (approximately 36-months of age)
Autism Symptoms	A combination of measures will be used across study engagement to assess parent reported autism symptomology. These measures include the TELE-ASD-PEDS. The TELE-ASD-PEDS was developed by researchers at Vanderbilt University to assess remotely autism symptomology. The TELE-ASD-PEDS measures communication, social interaction, play, and restricted and repetitive behaviors. It is administered via telehealth and behaviors are scored. Total scores range based on age of participant/module administered. Scores are calculated and compared against cutoff scores for autism spectrum and autism.	Completion of Phase 1 (approximately 6-months of age) and completion of follow-up (approximately 36-months of age)
Autism Symptoms	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.	Completion of Phase 1 (approximately 6-months of age) and completion of follow-up (approximately 36-months of age)

Collaborators and Investigators

• Sponsor: RTI International
• Collaborators: University of North Carolina, Chapel Hill
• Investigators: Principal Investigator: Anne Wheeler, PhD, RTI International

Study record dates

Study Major Dates

• Study Start (Actual): November 30, 2018
• Primary Completion (Estimated): June 30, 2026
• Study Completion (Estimated): December 31, 2026

Study Registration Dates

• First Submitted: February 7, 2019
• First Submitted That Met QC Criteria: February 7, 2019
• First Posted (Actual): February 11, 2019

Study Record Updates

• Last Update Posted (Actual): July 31, 2025
• Last Update Submitted That Met QC Criteria: July 28, 2025
• Last Verified: July 1, 2025

More Information

Terms related to this study

• Keywords: Early intervention; Parent-Child interaction; Rare Neurogenetic Conditions; Intellectual and Developmental Disabilities
• Additional Relevant MeSH Terms: Aortic Valve Disease; Urogenital Diseases; Imprinting Disorders; Neurologic Manifestations; Endocrine System Diseases; Musculoskeletal Diseases; Central Nervous System Diseases; Nervous System Diseases; Cardiovascular Diseases; Muscular Diseases; Pathologic Processes; Nutrition Disorders; Neoplasms; Male Urogenital Diseases; Female Urogenital Diseases; Female Urogenital Diseases and Pregnancy Complications; Heart Diseases; Neuromuscular Diseases; Genetic Diseases, Inborn; Overnutrition; Disease; Neurobehavioral Manifestations; Neurodegenerative Diseases; Heart Valve Diseases; Gonadal Disorders; Lymphatic Diseases; Craniofacial Abnormalities; Musculoskeletal Abnormalities; Congenital Abnormalities; Parathyroid Diseases; Cardiovascular Abnormalities; Heart Defects, Congenital; Movement Disorders; Abnormalities, Multiple; Heredodegenerative Disorders, Nervous System; Overweight; Neoplastic Syndromes, Hereditary; Neurocutaneous Syndromes; Mental Retardation, X-Linked; Intellectual Disability; Genetic Diseases, X-Linked; Aortic Valve Stenosis; Muscular Disorders, Atrophic; Hamartoma; Neoplasms, Multiple Primary; Malformations of Cortical Development, Group I; Malformations of Cortical Development; Nervous System Malformations; Disorders of Sex Development; Urogenital Abnormalities; Obesity; Sex Chromosome Disorders; Chromosome Disorders; Chronobiology Disorders; Sex Chromosome Disorders of Sex Development; Aortic Stenosis, Supravalvular; Gonadal Dysgenesis; Hypogonadism; Lymphatic Abnormalities; Hypoparathyroidism; 22q11 Deletion Syndrome; Syndrome; Rett Syndrome; Muscular Dystrophies; Muscular Dystrophy, Duchenne; Tuberous Sclerosis; Fragile X Syndrome; Williams Syndrome; Smith-Magenis Syndrome; Prader-Willi Syndrome; Down Syndrome; Angelman Syndrome; Turner Syndrome; Klinefelter Syndrome; DiGeorge Syndrome
• Other Study ID Numbers: 18-2079

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: NO

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No
• product manufactured in and exported from the U.S.: No