Handbook of Genetic Counseling/Treacher Collins

Treacher Collins

Contracting

• Greet and welcome family
• What are your questions and concerns for genetics?
• Overview Agenda
  • Medical/Developmental/Family Hx updates
  • Discuss genetic contributions to Treacher Collins
  • Personnel from other specialties will be in to talk with you
  • Questions

Intake

• Basic Info
  • Age (yr & month)
  • Race/sex
  • Reason for referral
• Medical History
  • Since your last visit, have you had any:
    • Surgeries?
    • Illnesses?
    • Hospitalizations?
    • Health concerns?
    • New medications?
• Treatment History
  • What have you been doing/I see you have been doing ____________
    • How has this been working?
• Developmental History
  • School_________________ Grade____________
  • Services: PT_________OT__________ Speech___________
  • Any special education classes?
  • Early Intervention?
  • Any private evaluations?
  • How would you say __ is functioning developmentally?
    • On tract?
    • What areas are lacking?
  • Activities
    • What does ___ enjoy doing?
    • Does he get to interact with peers?
• Family History Update
  • New births?
  • New medical problems (psychological or medical)
• Impressions: (discuss diagnosis, thoughts)
• Psychosocial Assessment
  • What are things like at home?
  • Who lives at home?
    • Are you thinking of having more children?
  • How are you (parents) dealing with this diagnosis?
    • What resources have you found helpful?
    • Would you like more resources?
  • Do you (parents) find time for yourselves?
    • Who lives in the area to help you?
    • Who takes care of ___ when you need a break?
  • How are your financial resources?
    • Are you having any trouble paying for medical care?
    • What do you need that you don't have?
    • What services do you need that aren't covered by your insurance?

Treacher Collins Syndrome

• Mode of Inheritance: Autosomal Dominant
• Chromosome Location: 5q32-q33.1
• Molecular genetics:
  • Defective gene: treacle
  • Over 50% of case thought to be due to de novo mutations
  • Variable Expression
• Incidence
• Clinical Features
  • Abnormal external ears to almost complete absence of an ear
  • Hearing loss
  • Very small jaw (micrognathia)
  • Extra large mouth
  • Defect in the lower eyelid (coloboma)
  • Scalp hair extends onto cheeks
  • Cleft palate
• Diagnosis
  • The child usually will show normal intelligence
  • Diagnosis usually made on features including:
    • Abnormal eye shape (palpebral fissure, slant)
    • A flat or hypoplastic malar region (cheekbones)
    • Facial clefts
    • Small jaw (micrognathia or hypoplastic mandible)
    • Low-set ears
    • Ear malformation (unusual shape to the ears)
    • Abnormal ear canal
    • Conductive hearing loss
    • Defects in the eye (coloboma that extends into the lower lid)
    • Decreased eyelashes on the lower eyelid
• Management & Treatment
  • Screening for hearing loss
    • Intervention to allow better scholastic performance
  • Plastic surgery for small chin, cleft palate, and other defects
  • Complications
    • Feeding difficulty
    • Speaking difficulty
    • Communication problems
    • Vision problems
    • Cosmetic appearance can cause other people to think the problem is worse than it is
• Prognosis
  • Children with Treacher-Collins grow to become normally functioning adults of normal intelligence.
  • Careful attention to any hearing problems helps ensure better performance in school.

Testing

• • DNA Diagnostic Lab

Johns Hopkins Hospital

CMSC 1004

600 N. Wolfe St.

Baltimore, MD 21287

Contact: Barbara Karczeski, MS

email: bkarczes@jhmi.edu

phone: (410) 955-0483

fax: (410) 955-0484

Gene:	TCOF1
Test:	Direct mutation analysis by DNA sequencing
CPT Codes:	83891 x 1 83898 x 26 83904 x 52 83909 x 52 83912 x 1
Sensitivity:	78-93%
Turnaround Time:	5 weeks
Cost:	$2630 per individual blood sample (for mutation identification) Please call for prenatal and targeted mutation prices.
Special Considerations:	N/A

Genes & Chromosomes

• CellsàChromosomesàGenes
  • Chromosome location: 5
• AD inheritance
  • 50% chance of passing gene one
  • 40-50% of mutations are "de novo"

Resources

• Treacher Collins Foundation

P.O. Box 683

Norwich, Vermont 05055

1-800-823-2055

www.treachercollinsfnd.org

• Treacher Collins Family Support Group (UK)

http://www.treachercollins.net

• Treacher Collins Connection

http://www.tcconnection.org/

Conclusions

• Review session/diagnosis
• Answer additional questions
• Give resource info & contact info

Notes

The information in this outline was last updated in June 2003.