Handbook of Genetic Counseling/Neurofibromatosis - Type 1-2
Neurofibromatosis Type 1
- Establish rapport with small talk and introduce myself
- What have you been told about Neurofibromatosis?
- Acknowledge that the diagnosis was made by the pediatrician when the girls were 6 months old, no NF education provided other than a brochure
- What concerns do you have? What questions would you like to have answered today?
Elicit Medical HistoryEdit
- Prenatal and birth history
- Perinatal complications
- Immunizations up to date?
- Any illnesses, hospitalizations, surgeries?
- Any recent doctor appointments other than ophthalmologist and MRI?
- Acknowledge that the findings from both of the above were insignificant
- Review of systems
- Any vision problems? Hearing? Any heart problems? Any breathing problems? Constipation/Diarrhea? UTI's? Have you noticed any bowing of her legs or curvature of her spine? Do they have any freckles under their arms or in the groin area? Have either of the girls ever had a seizure?
- Current Medications
- Developmental Assessment:
- Are the twins walking? Walking backwards? Running? Scribbling with a crayon? Follow one-step commands? How many words do they know? Do they know any body parts? Colors?
- Do the girls receive any early intervention services? If yes, what type of services do they receive? How often?
- What are the feelings of the family in relation to the services? Do you feel that she is getting adequate services?
Elicit Family HistoryEdit
- Generate a targeted family history
- Specifically ask about findings of NF type 1
- Does anyone in the family have: learning problems, DD, MR? Vision problems/loss? Café-au-lait spots? Small raised areas on the skin? Groin or underarm freckling? Bowing of the legs? Scoliosis? Seizure problems?
- Also ask about:
- Depression or other psychological problems
- Any miscarriages or Stillbirths?
- Anyone born with any birth defects?
- Anyone die at a young age or unexpectantly?
- Anyone in leg/back braces or confined to a wheelchair?
- Who is living in your home?
- Do you have family in this area? Friends?
- Does anyone help you with your children?
- How are the childcare needs being met?
- How has the diagnosis affected your home life?
- Have you felt anxious while waiting to see genetics?
- How is the family coping?
- Do you have insurance?
- Are you (parents) employed outside of the home? If so, what is your occupation?
- Genes and chromosomes
- De novo mutation? 50% of cases
- NF1 gene is classified as a tumor suppressor gene, however the gene has other functions that are not as well defined.
- Autosomal Dominant inheritance
- Risk assessment:
- For affected parents/patient=50%, although clinical expression is variable
- For unaffected parents the recurrence risk is small (<1%)
- Support groups, NF clinic, BCMH services???
- Most people with NF1 live long and productive lives and do not develop life-threatening complications.
- Although the medical literature and the internet tend to show the most severe cases, approximately 2/3 have only mild or moderte involvement throughout their lifespan.
- Provide the patient with resources/literature
The information in this outline was last updated in 2001.