Clinical trial NCT03836300: Parent and Infant Inter(X)Action Intervention (PIXI)
Official title: Piloting an Early Intervention Program for Infants With Rare Neurogenetic Disorders
Study type: INTERVENTIONAL
Overall status: ENROLLING_BY_INVITATION
Phase: NA
Conditions: Fragile X Syndrome
Angelman Syndrome
Prader-Willi Syndrome
Dup15Q Syndrome
Duchenne Muscular Dystrophy
Phelan-McDermid Syndrome
Rett Syndrome
Smith Magenis Syndrome
Williams Syndrome
Turner Syndrome
Klinefelter Syndrome
Chromosome 22q11.2 Deletion Syndrome
Tuberous Sclerosis
Down Syndrome
Keywords: Early intervention
Parent-Child interaction
Rare Neurogenetic Conditions
Intellectual and Developmental Disabilities
Lead sponsor: RTI International
Sponsor class: OTHER
Collaborators: name: University of North Carolina, Chapel Hill
First posted: 2019-02-11
Enrollment: 120
Sex: ALL
Maximum age (years): 99
Standard ages: CHILD
ADULT
OLDER_ADULT
Accepts healthy volunteers: yes
Allocation: NA
Intervention model: SINGLE_GROUP
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.
Primary purpose: TREATMENT

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

Eligibility criteria: 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.

Primary outcomes:
measure: Social Validity and Acceptability
timeFrame: Completion of Phase 1 (approximately six months of age)
measure: Social Validity and Acceptability
timeFrame: Completion of Phase 2 (approximately twelve months of age)
measure: Fidelity
timeFrame: Completion of Phase 1 (approximately six months of age)
measure: Fidelity
timeFrame: Completion of Phase 2 (approximately twelve months of age)
Secondary outcomes:
measure: Parent Implementation and Engagement
timeFrame: Across phase 1 and phase 2 engagement (approximately ages 6-months through 1-year of age)
measure: Early Developmental Outcomes
timeFrame: Completion of Phase 1 (approximately 6-months of age) and completion of follow-up (approximately 36-months of age)
measure: Autism Symptoms
timeFrame: Completion of Phase 1 (approximately 6-months of age) and completion of follow-up (approximately 36-months of age)
measure: Autism Symptoms
timeFrame: Completion of Phase 1 (approximately 6-months of age) and completion of follow-up (approximately 36-months of age)
measure: Autism Symptoms
timeFrame: Completion of Phase 1 (approximately 6-months of age) and completion of follow-up (approximately 36-months of age)
measure: Autism Symptoms
timeFrame: Completion of Phase 1 (approximately 6-months of age) and completion of follow-up (approximately 36-months of age)
measure: Autism Symptoms
timeFrame: Completion of Phase 1 (approximately 6-months of age) and completion of follow-up (approximately 36-months of age)
Other outcomes:
Locations:
city: Research Triangle Park
country: United States
facility: RTI International
state: North Carolina
Study officials:
affiliation: RTI International
name: Anne Wheeler, PhD
role: PRINCIPAL_INVESTIGATOR
References: