Angelman Syndrome, Chromosome 22q11.2 Deletion Syndrome, Down Syndrome, Duchenne Muscular Dystrophy, Dup15Q Syndrome, Fragile X Syndrome, Klinefelter Syndrome, Phelan-McDermid Syndrome, Prader-Willi Syndrome, Rett Syndrome, Smith Magenis Syndrome, Tuberous Sclerosis, Turner Syndrome, Williams Syndrome
Conditions
Keywords
Early intervention, Parent-Child interaction, Rare Neurogenetic Conditions, Intellectual and Developmental Disabilities
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
Interventions
BEHAVIORALParent-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.
Sponsors
RTI International
University of North Carolina, Chapel Hill
Study design
Allocation
NA
Intervention model
SINGLE_GROUP
Primary purpose
TREATMENT
Masking
NONE
Intervention model description
The intervention, called Parent-infant Interaction Intervention (PIXI) is a comprehensive intervention provided across the first year of life for parents/caregivers of infants identified with a rare neurogenetic disorder. It includes psychoeducation around the disorder, early development, and service navigation along with parent-child interaction activities, parent coaching, and family/parent well-being support.
Eligibility
Sex/Gender
ALL
Age
No minimum to 99 Years
Healthy volunteers
Yes
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.
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Social Validity and Acceptability | 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. |
| Fidelity | 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 |
Secondary
| Measure | Time frame | Description |
|---|---|---|
| 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. |
| 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. |
| 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 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. |
Countries
United States
Contacts
PRINCIPAL_INVESTIGATORAnne Wheeler, PhD
RTI International
Outcome results
None listed