Craniofacial Microsomia: Longitudinal Outcomes in Children Pre-Kindergarten (CLOCK)

Study Overview
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Brief Summary
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This study is a multi-center, longitudinal cohort study of 125 infants with craniofacial microsomia (CFM) and 100 infants without craniofacial anomalies. Participants will undergo a series of evaluations between 0-3 years of age to comprehensively evaluate the developmental status of infants and toddlers with CFM. This research design will also explore specific pathways by which CFM may lead to certain outcomes. Specifically, the study explores (1) the longitudinal relations between facial asymmetry and emotion-related facial movements and socialization; and (2) associations among ear malformations, hearing and speech deficits and cognitive outcomes. Results of this research will ultimately lead to future investigations that assess new interventions and corresponding changes in current standards of care for children with CFM.

Official Title
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Craniofacial Microsomia: Longitudinal Outcomes in Children Pre-Kindergarten (CLOCK)

Conditions
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Craniofacial Microsomia, Hemifacial Microsomia, Oculo-Auriculo-Vertebral-Syndrome, Goldenhar Syndrome, Microtia

Participation Criteria
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Eligibility Criteria
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We are currently looking to enroll children with craniofacial microsomia through ClinicalTrials.gov Inclusion Criteria: Children with Craniofacial Microsomia: Male or female infant participant is between 12 months and 24 months of age, or corrected age (for some infants born prior to their due date). Infant participant has diagnosis of at least one of the following conditions: Microtia Anotia Facial asymmetry AND Preauricular tag(s) Facial asymmetry AND Facial tag(s) Facial asymmetry AND Epibulbar dermoid Facial asymmetry AND Macrostomia (i.e., lateral cleft) Preauricular tag AND Epibulbar dermoid Preauricular tag AND Macrostomia Facial tag AND Epibulbar dermoid Macrostomia AND Epibulbar dermoid Infant participant has been diagnosed by a regional craniofacial team. Legal guardian will provide written parental permission and informed consent prior to participation in study. Legal guardian is willing to comply with all study procedures and be available for the duration of the study through Time 3. Parents of Children with Craniofacial Microsomia: able to provide written consent for study participation, willing to comply with all study procedures and interested in participating in the entire study through Time 3. Exclusion Criteria: Children with Craniofacial Microsomia: Subject is diagnosed with a known syndrome that involves microtia and/or underdevelopment of the jaw (Townes-Brocks, Treacher Collins, branchiootorenal, Nager, or Miller syndromes). Subject has abnormal chromosome studies (karyotype) Subject has a major medical or neurological condition that prevents participation in the study (e.g., cancer, cerebral palsy) at time of recruitment Subject was born before 34 weeks estimated gestational age Anything that would place the subject at increased risk or preclude the subject's full compliance with or completion of the study. Sibling already participating in the CLOCK study Subject's consenting parent does not speak English or Spanish Parents of Children with Craniofacial Microsomia Anything that would preclude the subject's full compliance with or completion of the study. Subject does not speak English or Spanish

Ages Eligible for Study
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Minimum Age: 12 Months
Maximum Age: 24 Months

Sexes Eligible for Study
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All

Accepts Healthy Volunteers
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No

Study Plan
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How is the study designed?
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Arms and Interventions

| Participant Group/Arm | Intervention/Treatment |
| --- | --- |
| Children with Craniofacial Microsomia<br>125 children with craniofacial microsomia will be asked to come in for two study visits - when they are about 12 months old and again when they are about 36 months old. Procedures for children at the first visit include: assessment of development, video, photographs, and a hearing evaluation. Procedures for the final study visit include: assessment of development, photographs (2D & 3D), video, saliva sample, hearing evaluation, speech assessment. | |
| Children without Craniofacial Microsomia<br>Please note: we are not recruiting this group through ClinicalTrials.gov 100 children without craniofacial microsomia will be asked to come in for two study visits - when they are about 12 months old and again when they are about 36 months old. Procedures for the first visit include: assessment of development, video, and photographs. Procedures for the final study visit include: assessment of development, photographs (2D & 3D), video, and speech assessment. | |
| Parents of Children with Craniofacial Microsomia<br>125-250 parents of children with craniofacial microsomia will be asked to complete three visits - when their child is about 12 months old, 24 months old, and 36 months old. Parents will be asked to complete an interview at the first visit. The second visit consists of a telephone interview where parents will be asked about their child's hearing and health history. At the final study visit, parents will be asked to complete more questionnaires, have their picture taken, and donate saliva. | |
| Parents of Children without Craniofacial Microsomia<br>Please note: we are not recruiting this group through ClinicalTrials.gov 100 parents of children without craniofacial microsomia will be asked to complete three visits - when their child is about 12 months old, 24 months old, and 36 months old. Parents will be asked to complete an interview at the first visit. The second visit consists of a telephone interview where parents will be asked about their child's hearing and health history. At the final study visit, parents will be asked to complete questionnaires and an interview. | |
| Teacher/Day Care Provider<br>When the children participants are around 36 months old, we will ask parents for permission to contact their child's teacher/day care provider. We would like the teacher/day care provider to fill out a questionnaire. | |

What is the study measuring?
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Primary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Neurodevelopmental Outcome Measures | BSID-III Cognitive Index | T1 study visit (12-14 months of age) | 
| Phenotypic Assessments | 2D photographs and video | T1 study visit (12-14 months of age) | 
| Phenotypic Assessments | Medical and Surgical History | T2 study visit ( 24 months) | 
| Neurodevelopmental Outcome Measures | BSID-III Cognitive Index | T3 study visit ( 36 months) | 
| Neurodevelopmental Outcome Measures | BSID-III Fine & Gross Motor | T1 study visit (12-14 months of age) | 
| Neurodevelopmental Outcome Measures | PLS-V Auditory Comprehension | T1 study visit (12-14 months of age) | 
| Neurodevelopmental Outcome Measures | PLS-V Expressive Language | T1 study visit (12-14 months of age) | 
| Phenotypic Assessments Phenotypic Assessments Phenotypic Assessments | 3D photographs, | T1 study visit (12-14 months of age) | 
| Phenotypic Assessments | Medical and Surgical History | T1 study visit (12-14 months of age) | 
| Phenotypic Assessments | Medical/dental chart abstraction | T1 study visit (12-14 months of age) | 
| Phenotypic Assessments | IT-MAIS: Auditory Assessment | T1 study visit (12-14 months of age) | 
| Phenotypic Assessments | OMENS rating from 2D images | T1 study visit (12-14 months of age) | 
| Phenotypic Assessments | Baby FACS observational protocol | T1 study visit (12-14 months of age) | 
| Phenotypic Assessments | Clinical Hearing Test | T1 study visit (12-14 months of age) | 
| Phenotypic Assessments | IT-MAIS: Auditory Assessment | T2 study visit ( 24 months) | 
| Neurodevelopmental Outcome Measures | BSID-III Fine & Gross Motor | T3 study visit ( 36 months) | 
| Neurodevelopmental Outcome Measures | Leiter-R Brief IQ | T3 study visit ( 36 months) | 
| Neurodevelopmental Outcome Measures | Leiter-R Forward Memory | T3 study visit ( 36 months) | 
| Neurodevelopmental Outcome Measures | Leiter-R Sustained Attention | T3 study visit ( 36 months) | 
| Neurodevelopmental Outcome Measures | Leiter-R Associated Pairs | T3 study visit ( 36 months) | 
| Neurodevelopmental Outcome Measures | Leiter-R Matching | T3 study visit ( 36 months) | 
| Neurodevelopmental Outcome Measures | Leiter-R Picture Context | T3 study visit ( 36 months) | 
| Neurodevelopmental Outcome Measures | PLS-V Auditory Comprehension | T3 study visit ( 36 months) | 
| Neurodevelopmental Outcome Measures | PLS-V Expressive Language | T3 study visit ( 36 months) | 
| Neurodevelopmental Outcome Measures | NEPSY-II Phonological Processing | T3 study visit ( 36 months) | 
| Neurodevelopmental Outcome Measures | ITSEA Parent | T3 study visit ( 36 months) | 
| Neurodevelopmental Outcome Measures | ITSEA Teacher | T3 study visit ( 36 months) | 
| Neurodevelopmental Outcome Measures | Goldman-Fristoe Test of Articulation (GFTA-2) | T3 study visit ( 36 months) | 
| Phenotypic Assessments | 2D photographs and video | T3 study visit ( 36 months) | 
| Phenotypic Assessments | 3D photographs | T3 study visit ( 36 months) | 
| Phenotypic Assessments | Medical and Surgical History | T3 study visit ( 36 months) | 
| Phenotypic Assessments | Medical/dental chart abstraction | T3 study visit ( 36 months) | 
| Phenotypic Assessments | IT-MAIS: Auditory Assessment | T3 study visit ( 36 months) | 
| Phenotypic Assessments | OMENS rating from 2D images | T3 study visit ( 36 months) | 
| Phenotypic Assessments | Hearing Evaluation | T3 study visit ( 36 months) | 
| Phenotypic Assessments | Interview on willingness for future study | T3 study visit ( 36 months) | 
| Phenotypic Assessments | DNA collection (DNA) | T3 study visit ( 36 months) | 

 Terms related to the study
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Keywords Provided by Centre Hospitalier Valida
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socialization, epibulbar dermoid, coloboma, macrostomia, CFM, facial asymmetry, skin tag, facial tag, missing ear, small ear, anotia, microtia, lateral cleft, infant, toddler, baby, neurodevelopment, cognition