Handbook of Genetic Counseling/Treacher Collins

< Handbook of Genetic Counseling

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.

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