Background on HFM

HFM = Hemifacial Microsomia

2nd most common craniofacial malformation (1/3500-1/18000 births)

Defining Features of HFM:Asymmetric underdevelopment of craniofacial structures innervated by the 1st and 2nd pharyngeal arches during early gestation, including the orbit, mandible, ear, cranial nerves, and soft tissues

Gorlin, 1990; Johnston, 1990; Lauritzen, 1985; Poswillo, 1973

Project History

Case-Control Study

Case-Control Study

HFM Follow-Up Study

HFM Follow-Up Study CALLSCALLS

Case-Control Study

(1997-2001)

HFM Follow-Up Study CALLS

METHOD:1. Cases and controls ascertained from 24 cities in US and Canada2. 45-minute telephone interviews:

• 280 mothers of young children with HFM (cases) • 884 mothers of children without HFM (controls)

3. Buccal swabs of mother, father, and child4. Medical record review

RESULTS:Increased risk of HFM associated with

• Hispanic ethnicity, • 2nd trimester vaginal bleeding, • previous miscarriage, • diabetes, and • vasoactive medication use in early pregnancy

Case-Control Study

HFM Follow-Up Study (2004-2009) CALLS

STUDY OBJECTIVES:1. To describe the neurocognitive and psychosocial status of children

with HFM as compared to their demographically matched peers.2. To identify demographic and environmental factors that moderate or

mediate the relationship between HFM and neuropsychological and psychosocial outcomes.

METHOD:1. 194 families with HFM (cases) and 570 without (controls) were enrolled2. Mailed questionnaires to children and their parents

• Questions about quality of life, behavior, and social adjustment3. Teachers performed standardized testing on children

• PPVT – verbal cognition• VMI – visual motor skills

1. Social-Emotional Development– Children with HFM had worse avg. scores on internal

behavior outcomes2. Neurodevelopment and Learning

– Children with HFM had poorer neurocognitive outcomes

3. Sleep Patterns – Children with HFM had more sleep disordered

breathing problems

HFM Follow-Up Study: Key Findings

Dufton, Speltz, Kelly, Leroux, Collett, & Werler, 2011; Collett, Speltz, Cloonan, Leroux, Kelly, & Werler, 2011; Cloonan, Kifle, Davis, Speltz, Werler, & Starr, 2009

CALLS: Goals

STUDY OBJECTIVES:

1. To compare youth with and without HFM in terms of their neuropsychological performance, psychosocial outcomes, and sleep disturbances.

2. To identify phenotypic and environmental factors that moderate or mediate the relationship between HFM and neuropsychological performance and psychosocial outcomes.

3. To examine neuropsychological performance at ages 5-12 as predictive of neuropsychological status at ages 11-17 years.

4. To examine psychosocial status at ages 5-12 years as predictive of psychosocial outcomes at ages 11-17 years.

METHOD: We will approach all subjects from HFM follow-up study (n=764)

This time, we will conduct in-person testing with youth• Study subjects reside in 30 states across US, plus

Canada/Bermuda/Mexico

This time, we will travel to them• Boston center will cover east of Mississippi River.• Seattle center will cover west of Mississippi River.

CALLS: Data Collection Plan

1. Phone call to all 764 eligible study subjects

CALLS: Subject Enrollment

1. Phone call to all 764 eligible study subjects

2. Interested parents are sent an information packet

3. Identify case-control sets based on age (11-17 years) and geographic region (~4 controls per case available, but will enroll 2)

4. Send enrollment packet

5. Travel to study subjects for testing• Community site (community center, library, church)

CALLS: Subject Enrollment

YOUTH DATA COLLECTION

• Case or control completes testing and 3 surveys

• Each testing session is videotaped (with permission) and lasts up to 4 hours

• $35.00 check/gift card

Hearing 5 minutesVMI-5 Copying 10 minutesWASI Vocabulary 15-20 minutes

Matrix ReasoningWISC-IV Digit Span 5-8 minutes

Coding 2-3 minutesLetter-Number Sequencing 5-8 minutesSymbol Search 2-3 minutes

GORT-IV Fluency & Comprehension 20 minutesBREAK (10 minutes)

WRAML-2 Design Memory 15 minutesVerbal Learning

WRAT-4 Spelling 10 minutesWRAML-2 Verbal Learning Delay Recall 2-3 minutes

Design Memory Recognition 2-3 minutesWRAT-4 Sentence Comprehension 15 minutes

Math Computation 15 minutesD-KEFS Color-Word Interference 10 minutes

Tower Test 10 minutesPhotographs E. S.'s protocol 10 minutes

BREAK (5 minutes)CELF-4 Recalling Sentences 20 minutes

Word Classes-2 (Expressive and Receptive)

Speech SIT and TDTA 20 minutesWJ-III Written Expression 15 minutesVision Snellen Eye Chart 5 minutes

PARENT DATA COLLECTION

• Parent ideally completes surveys while child is being tested

• Surveys take about 90 minutes to complete• $80.00 check/gift card

TEACHER DATA COLLECTION

• Teachers complete 2 surveys by mail. • $20.00 compensation

Youth Parent Teacher

Behavior Youth Self ReportIssues Checklist

Child Behavior Checklist

Issues Checklist

Teacher Report Form

Quality of LifeSocial Participation

Peds QoLPEM-CY Peds QoL

Socialcommunication

Children’s Communication

Checklist

Children’s Communication

Checklist

OtherBackground QMed. HistoryPed. Sleep Q

YOUTH, PARENT, & TEACHER SURVEYS

Initial Call to Announce CALL Study & obtain

updated contact

6-12 year old follow up study database

Teacher Contact

Log

Teacher Data (mailed survey): 2 surveys (15-20 min), $20.00

Follow-up Contact (Research Team)

5-7 days after packet sent

Child Data (in-person): 1. Testing (4 hours) 2. 2 surveys (30 min) 3. Photographs (10 min)

Data Entry

Analytic Database

Schedule Testing

YES OR UNABLE TO REACH BY PHONE

NO STOP

Mail CALL study packet - cover letter, parent consent

form, child/adolescent assent form, family background

questionnaire, teacher contact form, educational record release form, newsletter

Family Contact Log (reminders to parents & children/adolescents

about study packet)

Educational Record Review

Obtain completed

teacher contact form

Obtain parent permission to

release educational

records

Obtain parent consent & background questionnaire

(prior to testing or upon arrival)

Obtain child/adolescent verbal/written assent (prior to testing

or upon arrival)

Parent Data (preferably during testing):

1. Background questionnaire 2. Medical History

Questionnaire 3. 5 surveys (70-85 min)

a. 1 online option

Confirm testing

DATABASE DEVELOPMENTMichael : tracking databaseKristen (Seattle): test and survey data entry

DATABASE MANAGEMENT1. Eligible study subjects who express interest in study allocated to • Boston • Seattle2. Separate databases maintained in Boston and Seattle• Tracking, enrollment• Data collection, entry3. Database updates• Scoring and data problems discussed monthly• Tracking updates• Data cleaning• FTP site for transferring updates4. Boston & Seattle datasets merged at end of data collection

Data Management

Acknowledgements Funding Source: National Institute on Dental and Craniofacial Research

(NIH/NIDCR), 2R01DE011939

Collaborators and Colleagues:1. Case-Control Study (July 1997-2001): Martha Werler (PI); Jane

Sheehan; Lisa Crowell; Allen Mitchell; John Mulliken

2. HFM Follow-Up Study (October 2004-2009): • Slone Epidemiology Center: Jane Sheehan; Sandy Hatfield; Lisa

Crowell; Marguerite Dembro; Carolina Meyers; Michael Bairos; Judith Kelly

• Seattle Children’s: Matthew Speltz (PI); Catherine Hayes (PI); Brent Collett; Jacqueline Starr; Brian Leroux; Yona Cloonan

The young people, their families, and their teachers who make this work possible

CALLS TEAM:

Slone Epidemiology Center: Martha Werler (PI); Lisa Crowell; Michael Bairos; Meredith Black; Yaina Mercado; Mary Khetani

Seattle Children’s: Matthew Speltz, PhD (PI); Brent Collett PhD (I); Jenna Rudo-Stern; Kristen Daniels; Christa McCormick; Diana Prise; Sharman Conner

Consultants (not pictured): Jacqueline Starr; Yona Cloonan (University of Pittsburgh) ; Kathy Chapman (University of Utah); Carrie Heike (University of Washington)

*******Special Thank You to Art Posocco and Anthony Aguirre********