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Enrolling by Invitation

NCT Number: NCT03836300

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

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.

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Key information

Conditions

Fragile X Syndrome 22q11 Deletion Syndrome Abnormalities, Multiple Angelman Syndrome Aortic Stenosis, Supravalvular Aortic Valve Disease Aortic Valve Stenosis Cardiovascular Abnormalities Cardiovascular Diseases Central Nervous System Diseases Chromosome 22q11.2 Deletion Syndrome Chromosome Disorders Chronobiology Disorders Congenital Abnormalities Congenital, Hereditary, and Neonatal Diseases and Abnormalities Craniofacial Abnormalities Developmental Disabilities DiGeorge Syndrome Disorders of Sex Development Down Syndrome Duchenne Muscular Dystrophy Dup15q Syndrome Endocrine System Diseases Female Urogenital Diseases Female Urogenital Diseases and Pregnancy Complications Genetic Diseases, Inborn Genetic Diseases, X-Linked Gonadal Disorders Gonadal Dysgenesis Hamartoma Heart Defects, Congenital Heart Diseases Heart Valve Diseases Hemic and Lymphatic Diseases Heredodegenerative Disorders, Nervous System Hypogonadism Hypoparathyroidism Imprinting Disorders Intellectual Disability Klinefelter Syndrome Lymphatic Abnormalities Lymphatic Diseases Male Urogenital Diseases Malformations of Cortical Development Malformations of Cortical Development, Group I Mental Disorders Movement Disorders Muscular Diseases Muscular Disorders, Atrophic Muscular Dystrophies Muscular Dystrophy, Duchenne Musculoskeletal Abnormalities Musculoskeletal Diseases Neoplasms Neoplasms, Multiple Primary Neoplastic Syndromes, Hereditary Nervous System Diseases Nervous System Malformations Neurobehavioral Manifestations Neurocutaneous Syndromes Neurodegenerative Diseases Neurodevelopmental Disorders Neurologic Manifestations Neuromuscular Diseases Nutrition Disorders Nutritional and Metabolic Diseases Obesity Overnutrition Overweight Parathyroid Diseases Phelan-McDermid Syndrome Prader-Willi Syndrome Rett Syndrome Sex Chromosome Disorders Sex Chromosome Disorders of Sex Development Smith Magenis Syndrome Smith-Magenis Syndrome Telomeric 22q13 Monosomy Syndrome Tuberous Sclerosis Turner Syndrome Urogenital Abnormalities Urogenital Diseases Williams Syndrome X-Linked Intellectual Disability

Age range

Up to 99 year

Sex eligibility

All sexes

Study type

Interventional

Phase

Not applicable

Primary location

RTI International

Research Triangle Park, North Carolina, 27709, United States

About this study

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

Who can participate

Healthy volunteers accepted: Yes

Only the study team can determine whether someone qualifies for participation.

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.

Treatment and study plan

Parent-Infant Inter(X)action Intervention (PIXI)

Behavioral

Psychoeducation around the diagnosed disorder, early development, and service navigation along with parent-child interaction activities, parent coaching, and family/parent well-being support.

Primary outcomes

  1. Social Validity and Acceptability

    Time frame: Completion of Phase 1 (approximately six 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.

  2. Social Validity and Acceptability

    Time frame: 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.

  3. Fidelity

    Time frame: Completion of Phase 1 (approximately six 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

  4. Fidelity

    Time frame: 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

Secondary outcomes

  1. Parent Implementation and Engagement

    Time frame: 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.

  2. Early Developmental Outcomes

    Time frame: 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.

  3. Autism Symptoms

    Time frame: 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 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.

  4. Autism Symptoms

    Time frame: 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 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.

  5. Autism Symptoms

    Time frame: 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 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.

  6. Autism Symptoms

    Time frame: 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 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.

  7. Autism Symptoms

    Time frame: 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.

Sponsors and collaborators

Lead sponsor

RTI International

Other

Collaborators

  • University of North Carolina, Chapel Hill

Registry information

Official study title

Piloting an Early Intervention Program for Infants With Rare Neurogenetic Disorders

Important dates

Study start
2018
Primary completion
2026
Study completion
2026
First posted
Feb 11, 2019
Registry last updated
Jul 13, 2026

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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