Piloting an Early Intervention Program for Infants With Rare Neurogenetic Disorders
试验速览
- 阶段
- 不适用
- 状态
- Enrolling By Invitation
- 入组人数
- 120
- 试验地点
- 2
- 主要终点
- Fidelity
研究概览
简要总结
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.
详细描述
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
研究设计
- 研究类型
- Interventional
- 分配方式
- Na
- 干预模型
- Single Group
- 主要目的
- Treatment
- 盲法
- None
入排标准
- 年龄范围
- — 至 99 Years（Child, Adult, Older Adult）
- 性别
- All
- 接受健康志愿者
- 是
入选标准
- •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.
排除标准
- •- Infants may not be blind or have a severe hearing impairment as the intervention and assessments are not appropriate for these children.
研究组 & 干预措施
Infants with a rare neurogenetic condition and their parent/primary caregiver(s)
PIXI
干预措施: Parent-Infant Inter(X)action Intervention (PIXI) (Behavioral)
结局指标
主要结局
Fidelity
时间窗: 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
时间窗: 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.
次要结局
- Early Developmental Outcomes(Completion of Phase 1 (approximately 6-months of age) and completion of follow-up (approximately 36-months of age))
- Parent Implementation and Engagement(Across phase 1 and phase 2 engagement (approximately ages 6-months through 1-year of age))
- Autism Symptoms(Completion of Phase 1 (approximately 6-months of age) and completion of follow-up (approximately 36-months of age))
研究者
Anne Wheeler
Senior Public Health Research Analyst
RTI International