CLUBFOOT QUESTIONNAIRE. NAME (Person with clubfoot) Date of Birth / / M

Transcription

1 Date / / CLUBFOOT QUESTIONNAIRE Genetic Analysis of Limb Malformations NAME (Person with clubfoot) Date of Birth / / M F Mother's name Date of birth / / Ethnic origin Father's name Date of birth / / Ethnic origin Address Home Phone number: Work Phone number: address: DIAGNOSIS 1. What is the diagnosis? Clubfoot Vertical Talus Distal Arthrogryposis Amyoplasia Arthrogryposis Other Who made the diagnosis? Where? PHYSICAL FINDINGS/MEDICAL PROBLEMS Age at diagnosis 2. Please indicate which feet are affected. Both feet Right foot Left foot If individual has only one clubfoot, is the other foot normal?... Yes 3. Has individual with clubfoot undergone any surgeries?...yes Total number of hospitalizations: Date Type of Surgery/Procedure Name of Hospital/Location/Surgeon 4. Has individual with clubfoot experienced limitation of movement/contractures of the following joints? Upper limbs: hands/fingers wrist elbows Lower Limbs: hips knees ankles Other body parts: neck back other (Please describe) 5. Please indicate if the individual with clubfoot has any of the following problems: scoliosis (curvature of spine) pneumonias/respiratory infections strabismus (wandering eyes) cleft lip/palate hernias if male, undescended testicles difficulty moving eyes (ophthalmoplegia) other (for example, heart problem) please describe: 6. Is there a history of hearing loss?..... Yes Clubfoot Questionnaire Page 1 of 5

2 7. Has individual with clubfoot ever had any fractures?...yes 8. Has individual with clubfoot experienced dislocation of any joints?...yes If yes, which joint(s)? PREGNANCY, BIRTH & ENVIRONMENTAL HISTORY 9. Birth weight Birth length Hospital of birth City/state (Province/country) 10. Did mother take medications during pregnancy?...yes If yes, please list medications. 11. Did mother take multivitamins during pregnancy?...yes If yes, please indicate during which month(s). 12. How many alcoholic drinks per day did mother consume during pregnancy? ne Less than 1 drink/day 1-2 drinks/day 3-4 drinks/day 5-6 drinks/day 7-9 drinks/day 10 or more drinks/day If yes, please indicate what type (check all that apply). Beer and/or Wine Cocktails Other: During which month(s) did the mother consume alcohol? 13. How many cigarettes did the mother smoke during pregnancy? More than 1 pack/day About 1 pack/day More than 1 pack/week About 1 pack/week Less than 1 pack/week ne 14. Was there either of the following: extra amniotic fluid present (polyhydramnios) low amniotic fluid (oligohydraminos) (amniotic fluid is fluid surrounding the baby within the womb) If yes, was extra or low amniotic fluid detected on ultrasound?...yes If, how was it detected? How far along was the pregnancy when abnormal fluid amount was noted? 15. Was there any bleeding during the pregnancy?...yes Clubfoot Questionnaire Page 2 of 5

3 If yes, when did bleeding occur? Genetic Analysis of Limb Malformations 16. Was an amniocentesis performed?....yes If yes, when was amniocentesis performed? 17. Was chorionic villus sampling (CVS) performed?...yes If yes, when was CVS performed? 18. Was the baby with clubfoot active (moving and kicking) within the womb?...yes If mother had other pregnancies, was the movement similar / more / less than other pregnancies? 19. Were there any complications of pregnancy?...yes If yes, please describe. 20. Type of delivery: Vaginal C-section 21. Baby's position: Head first Feet first Transverse Breech (sideways) 22. Was the baby full-term?...yes If known, what was the gestational age at birth? 23. What physical findings did you or the doctors note at birth or shortly thereafter? 24. Were there any medical complications in the newborn period?...yes If yes, please describe. Did these problems delay discharge from the hospital?...yes Age at discharge from nursery. TESTING 25. Has the individual with clubfoot ever seen a geneticist?...yes Name of geneticist Hospital or clinic where seen by geneticist Approximate date or dates seen by geneticist 26. Has a chromosome study ever been done?...yes If Yes, where? Date of chromosome study / / Was the chromosome study normal?....yes If the chromosomes were abnormal, please describe: Clubfoot Questionnaire Page 3 of 5

4 27. Has a muscle biopsy been done?...yes If yes, where? Date of muscle biopsy / / Was the muscle biopsy normal?...yes If the muscle biopsy was abnormal, please describe: 28. Has an EMG (electromyogram- electrical study of muscle) been done?...yes If yes, where? Date of EMG / / Was the EMG normal?...yes If the EMG was abnormal, please describe: 29. Has individual with clubfoot ever had any difficulties with anesthesia?...yes If yes, please describe: 30. Has individual with clubfoot ever been diagnosed as having malignant hyperthermia or muscle rigidity?.....yes Please describe: 31. Please describe any other medical testing which might be significant, including location and dates of testing. DEVELOPMENTAL HISTORY Does the individual with clubfoot have a developmental delay? (If, Skip to question 43)... Yes If yes, has developmental testing been done?...yes Where was testing done? When was testing done? 32. In what areas is there a delay? motor skills mental both motor and mental Motor Development 33. Did the individual with clubfoot receive physical therapy?...yes What special devices are used for ambulation? corrector splints/braces (describe areas with splints/braces) walker wheelchair motorized wheelchair or cart none other (Please describe): Speech Development 34. Did the individual with clubfoot experience speech delay or speech problems?...yes If yes, please indicate areas of difficulty: nasal quality to speech delayed speech articulation problems other (Please describe): Clubfoot Questionnaire Page 4 of 5

5 35. Did the individual with clubfoot undergo any type of speech therapy?....yes If yes, at what age and for how long? Physical Development 36. What is the current height and weight of the individual with clubfoot? Height: Weight: Age: 37. Type of feeding in infancy: Breast (How long breastfed? months) Breast with supplemental bottles Bottle by choice Bottle, breastfeeding unsuccessful Other (Please describe): 38. Was a special nipple ever required?...yes If yes, what type? Age when used? 39. Was tube feeding ever required? yes If yes, indicate time period used. Why was tube feeding necessary? 40. Was a gastrostomy needed?...yes Age at placement? How long was a gastrostomy used? 41. Has the individual with clubfoot ever had GE reflux?...yes Was the GE reflux treated with: medication reflux board surgery other (Please describe): 42. When did individual with clubfoot feed orally? since birth not until age FAMILY HISTORY 43. Are there any other individuals in the family who have been suspected or diagnosed as having clubfoot? If yes, who is affected? (name and relationship) 44. Are the parents of the individual with clubfoot related by blood?...yes If yes, how are they related? Mother s ethnicity Father s ethnicity Sibling's name Sex DOB Half/Full sibling? Affected with clubfoot? Thank you for completing this questionnaire. Your input will help us learn more about clubfoot! Clubfoot Questionnaire Page 5 of 5