Symptoms and General Pathology

All Conditions

Nervous System Diseases

Diseases and Abnormalities at or Before Birth

Musculoskeletal Diseases

Nutritional and Metabolic Diseases

Behaviors and Mental Disorders

Urinary Tract, Sexual Organs, and Pregnancy Conditions

Gland and Hormone Related Diseases

Neoplasms

Heart and Blood Diseases

Blood and Lymph Conditions

Skin and Connective Tissue Diseases

Rare Diseases

Syndrome

Sclerosis

Rett Syndrome

Muscular Dystrophies

Prader-Willi Syndrome

Angelman Syndrome

Fragile X Syndrome

Muscular Dystrophy, Duchenne

Down Syndrome

Developmental Disabilities

Klinefelter Syndrome

Tuberous Sclerosis

Turner Syndrome

Gonadal Dysgenesis

Williams Syndrome

DiGeorge Syndrome

Smith-Magenis Syndrome

Atrophy

Muscular Diseases

Muscular Disorders, Atrophic

Neuromuscular Diseases

Genetic Diseases, Inborn

Genetic Diseases, X-Linked

Intellectual Disability

Neurobehavioral Manifestations

Neurologic Manifestations

Congenital Abnormalities

Abnormalities, Multiple

Chromosome Disorders

Obesity

Overweight

Overnutrition

Nutrition Disorders

Mental Retardation, X-Linked

Sex Chromosome Disorders

Heredodegenerative Disorders, Nervous System

Hamartoma

Neoplasms, Multiple Primary

Neoplastic Syndromes, Hereditary

Malformations of Cortical Development

Nervous System Malformations

Neurocutaneous Syndromes

Neurodegenerative Diseases

Disorders of Sex Development

Urogenital Abnormalities

Urogenital Diseases

Female Urogenital Diseases

Pregnancy Complications

Female Urogenital Diseases and Pregnancy Complications

Male Urogenital Diseases

Heart Defects, Congenital

Cardiovascular Abnormalities

Heart Diseases

Gonadal Disorders

Endocrine System Diseases

Movement Disorders

Central Nervous System Diseases

Hypogonadism

Constriction, Pathologic

Aortic Valve Stenosis

Aortic Stenosis, Supravalvular

Aortic Valve Disease

Heart Valve Diseases

22q11 Deletion Syndrome

Craniofacial Abnormalities

Musculoskeletal Abnormalities

Lymphatic Abnormalities

Lymphatic Diseases

Hypoparathyroidism

Parathyroid Diseases

Chronobiology Disorders

Muscular Dystrophy

Becker Muscular Dystrophy

Duchenne Muscular Dystrophy

Tuberous Sclerosis Complex

22q13.3 Deletion Syndrome

22q11.2 Deletion Syndrome

Lymphatic Malformations

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

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

Anne Wheeler, PhD

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.

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

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.

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

Piloting an Early Intervention Program for Infants With Rare Neurogenetic Disorders

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.

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.

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

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.

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.

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.

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.

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.

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.

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.

University of North Carolina, Chapel Hill

RTI International

Spots Global Cancer Trial Database for duchenne muscular dystrophy