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Demographic information

Please make sure to complete the form to the best of your ability. Answering that you’re
“not sure” is better than leaving a question blank. We may need to contact you by phone
if questions are left blank or we are uncertain about your answers. Thank you!
DATE FORM COMPLETED: _________________

A. DEMOGRAPHIC INFORMATION
.
1. PATIENT NAME

Date of Birth (Month/Day/Year) _______________________ Current Age (Years/months) _________________________
2.
The National Institutes of Health categorize Hispanic or latino ethnicity as being Cuban, Mexican,
Puerto Rican, South or Central American, or Spanish culture or origin, regardless of race. Do you
consider yourself to be Hispanic or latino (check one):
3. The National Institutes of Health also classify people according to their racial background based on the categories described below. What do you consider your racial classification (check all that apply) Native Hawaiian or Other Pacific Islander Other(specify) __________________________
4. PARENT INFORMATION
5. CONTACT INFORMATION


Email address:

6. WHERE DID YOU LEARN ABOUT THE REGISTRY (SELECT ONE)?



7. SIBLING INFORMATION

B. MEDICAL HISTORY

A) INITIAL DIAGNOSIS DETAILS
1. Age when the physical signs and symptoms of Barth Syndrome were first noticed (even if this is before the diagnosis of Barth Syndrome): _________ Age (Year and Months) 2. Where was the mutation analysis study conducted (Name of institution or hospital)? _______________________________________________________ 3. What was the primary reason for diagnosis of Barth Syndrome (please choose 1 main reason)? Others: ______________________________________________ 4. Who first made the diagnosis of Barth Syndrome diagnosis (choose one) 5 .Were you/your son the first person in your family to be given the diagnosis of Barth Syndrome? B). FAMILY HISTORY
1.Is anyone else in your family affected with Barth Syndrome ? If yes, Please indicate with appropriate information in the table shown: Family members diagnosed with Barth Syndrome(names) ______________________________________________________ Cousins: ______________________________________________ ______________________________________________________ Uncles: _______________________________________________ ______________________________________________________ Other relatives: _________________________________________ ______________________________________________________ 2. Are there any other members of your family in the Registry? If yes, who are they and how are your related (i.e. brother, uncle, cousin): ______________ ______________________________________________________________________________ Are there any deceased relatives in your family with Barth syndrome or suspected to have Barth 3. If yes, please fill out a section for each deceased family member with Barth Syndrome: How was the person related to you (your son) ?______________________________________________ If yes, where was the autopsy performed? ____________________________________ (Name of institution including city, state/province and country) ____________________________________________________________________________________ What was the cause of death? __________________________________________________________ How was the person related to you (your son) ?______________________________________________ If yes, where was the autopsy performed? ____________________________________ (Name of institution including city, state/province and country) ____________________________________________________________________________________ What was the cause of death? __________________________________________________________ How was the person related to you (your son) ?______________________________________________ If yes, where was the autopsy performed? ____________________________________ (Name of institution including city, state/province and country) ____________________________________________________________________________________ What was the cause of death ? __________________________________________________________ C. PHYSICIAN INFORMATION
What is the name of the physician who made the initial diagnosis? ___________________________________________________________ Address ___________________________________________________________ City, State, Zip _____________________________________________________ _____________________________________________________ _________________________________________ ___________________________________________________________ Address ___________________________________________________________ City, State, Zip _____________________________________________________ _____________________________________________________ _________________________________________ ___________________________________________________________ Address ___________________________________________________________ City, State, Zip _____________________________________________________ _____________________________________________________ _________________________________________ ___________________________________________________________ Address ___________________________________________________________ City, State, Zip _____________________________________________________ _____________________________________________________ _________________________________________ ___________________________________________________________ Address ___________________________________________________________ City, State, Zip _____________________________________________________ _____________________________________________________ _________________________________________ ___________________________________________________________ Address ___________________________________________________________ City, State, Zip _____________________________________________________ _____________________________________________________ _________________________________________ D. DEVELOPMENTAL MILESTONE DETAILS
1. For the following milestones, please check off “early”, “on time”, or “delayed” as to your best 3. Has there ever been a concern regarding delay in developing or meeting developmental milestones? If Yes, please describe_________________________________________________________________ ___________________________________________________________________________________ E. EDUCATION
1. If still in elementary or high school, what grade have you/your son recently completed or are currently enrolled : ______________________________________________ If school has been completed, please check the highest level of education completed: (check appropriate 2. If you/your son are still in elementary, secondary or high school, are you/your son in the age 3. Has there ever been a concern regarding a learning disability in school? 4. Have you/your son required special education classes? If yes, please describe: __________________ ____________________________________________________________________________________ 5. If you/your son have completed school, do you/your son currently work: Job description/occupation: _______________________________________________________ ____________________________________________________________________________________ F. MEDICAL INFORMATION
Cardiology:
1. Do you (your son) have a history of cardiomyopathy / poor heart function? b) At what age were heart medications started? c) Have heart medications ever been completely stopped? If yes, at what age were the heart medications stopped: ___________(years/months) After the heart medications were stopped, were they ever re-started? If yet, at what age were they re-started? __________________(years/months) And why were they started again?_________________________________ ____________________________________________________________ ____________________________________________________________ 2. Have you/your son ever had a heart transplant? If yes, at what age did the transplant occur (years and months) ___________ ______________ 3. Have you/your son ever been listed for heart transplantation? b) Are you (your son) still listed for heart transplant? If no, why not?__________________________________________________ ______________________________________________________________ 4. Have you/your son been diagnosed with a heart rhythm abnormality? If yes please describe____________________________________________________________ ____________________________________________________________________________________ Have you / your son had an automatic internal cardiac defibrillator (AICD or ICD) placed? 5. Have you (your son) had the following procedures and how often: Frequency
Hematology
1. Have you/your son ever had a bone marrow biopsy? If yes, please provide details of the biopsy/biopsies in the table below: 2. Have you/your son ever been diagnosed with neutropenia? What symptoms, if any, are present during periods of neutropenia: Other: _________________________________________________________________ 3. Have you/your son had a 6-week cycle of blood counts performed to look for neutropenia? If yes, where (at what hospital or physician’s office? ____________________________ ______________________________________________________________________ 4. Have you/your son ever been on granulocyte colony stimulating factor (GCSF)? Why was GCSF started? ________________________________ ____________________________________________________ ____________________________________________________ If no, at what age was it stopped: __________________________ Neurological/musculoskeletal
1. Did you (or your son) have any of these tests? into muscles to check electrical activity) 2. Have you/ your son ever been diagnosed as having a stroke? What were the circumstances and what was the reason for the stroke? ___________________________________________________________________________________ ___________________________________________________________________________________ ___________________________________________________________________________________ ___________________________________________________________________________________ At what hospital / institution were you / your son treated for the stroke? ___________________________________________________________________________________ ___________________________________________________________________________________ G. Other Medical Information and History
H. INFECTIONS
Please specify the frequency of the below listed infections, if applicable: An episode is a discrete occurrence with a gastrointestinal illness (vomiting and/or diarrhea) I. HOSPITALIZATIONS
1. Total number of hospitalizations to date (include hospitalization at the time of birth if the affected Barth individual stayed in the hospital 1 week or longer) _______________ 2. Total number of these hospitalizations that required an admission to the intensive care unit (ICU) 3. For hospitalizations that DID NOT require an ICU admission, list the number of admissions by the primary reason for the hospitalization: (i.e. of 5 total hospitalizations that did not require ICU admission, 3 were for heart failure and 2 were for fever/infection). 4. For hospitalizations that DID require an ICU admission, list the number of hospitalizations by the Please list prior hospitalizations that DID NOT require ICU admission:
Primary Diagnosis/Comments (location of the 1. For hospital admissions that required ICU admission: a. Please list the age at the time of the ICU admission and answer the following questions i. Age at 1st ICU admission (years/months) _________________ Other (please list) _____________________________________________ _____________________________________________________________________ _____________________________________________________________________ Were you / your son on a ventilator during this hospitalization? If yes, how long was the ventilator needed to support breathing? ii. Age at 2nd ICU admission (years/months) _________________ Other (please list) _____________________________________________ _____________________________________________________________________ _____________________________________________________________________ Were you / your son on a ventilator during this hospitalization? If yes, how long was the ventilator needed to support breathing? iii. Age at 3rd ICU admission (years/months) _________________ Other (please list) _____________________________________________ _____________________________________________________________________ _____________________________________________________________________ Were you / your son on a ventilator during this hospitalization? If yes, how long was the ventilator needed to support breathing? iv. Age at 4th ICU admission (years/months) ________________ Other (please list) _____________________________________________ _____________________________________________________________________ _____________________________________________________________________ Length of ICU stay in the hospital:
Were you / your son on a ventilator during this hospitalization? If yes, how long was the ventilator needed to support breathing? If more than 4 ICU admissions have occurred, please list the age and reason for admission below: ___________________________________________________________________________________ ___________________________________________________________________________________ ___________________________________________________________________________________ ___________________________________________________________________________________ ___________________________________________________________________________________ ___________________________________________________________________________________ ___________________________________________________________________________________ ___________________________________________________________________________________ ___________________________________________________________________________________ J. SYMPTOMS (Please check ONLY one box for each question)
1. Palpitations/episodes of heart racing: If yes, are the episodes associated with exercise, either during or after? 4. Excessive fatigue (out of proportion to the degree of activity): Does fatigue limit activities at school, work, or home 5. Please list your (your son’s) top 3 symptoms related to Barth Syndrome: 1.______________________________________________________________________ 2.______________________________________________________________________ 3.______________________________________________________________________ 6. Do you (your son) currently have a stomach tube (G-tube or NG-tube) for feeding and/or extra 7. Did you(your son) require a tube for feeding as an infant or young child? 8. Please check one of the following that most closely applies to you / your son’s ability: Class I. Patients without limitation of physical activity. Ordinary physical activity does not cause
undue fatigue or shortness of breath. Can do all activities without symptoms. Class II. Patients with slight limitation of physical activity. They are comfortable at rest. Ordinary
physical activity results in fatigue or shortness of breath. They usually have to stop physical activities Class III. Patients with marked limitation of physical activity. They are comfortable at rest. Less than
ordinary activity causes fatigue and shortness of breath. They are limited in their daily activities because of shortness of breath and exercise intolerance. Class IV. Patients with inability to carry on any physical activity without discomfort. Symptoms of
heart failure may be present even at rest. If any physical activity is undertaken, discomfort is increased. K. USE OF ASSISTIVE DEVICES
Have you /your son required the following? Age when the brace or device was started (give your best estimate even if you are not sure) L. TREATMENTS/THERAPY
Have you/your son required the following? M. ALLERGIES
Please list any foods or drugs to which you are allergic: _________________________________ ____________________________________________________________________________________ ____________________________________________________________________________________ N. MEDICATIONS
Current Medications (Circle all the medications that apply or write in the appropriate medication and
Medication Name (Trade and generic names of some commonly used medications are listed) ACE inhibitors or ACE receptor blockers -Captopril/Capoten -Enalapril/Vasotec/Renitec -Lisinopril (Prinivil,Zestril) -Losartan/Cozaar Other: Beta Blockers --Atenolol/Tenormin --Carvedilol/Coreg -Metoprolol/Toprol/Lopressor/Betaloc --Other Diuretics --lasix (furosemide) --Aldactone (spironalactone) -Hydroclorothiazide (HCTZ) -chlorothiazide/Diuril --Other CoQ10 Coumadin/Warfarin Aspirin Plavix/Clopidogrel GCSF/Neupogen/Filgrastatin Past Medications (Circle all the medications that apply):
Ace inhibitors:
--Captopril --Enalapril --Lisinopril Other Beta Blockers
--Propranolol --Atenelol --Carvedilol --Other Diuretics (“water pills”)
O. PREGNANCY AND BIRTH:

1. Was pregnancy full term for the child who has Barth syndrome?
If no, how many weeks in gestation was the mother at the time of birth? ___________ weeks 4. Mother’s age at the time of pregnancy: ________yrs 5. What was the birth weight of the affected person: ______Kilograms 6. Where there any complications with pregnancy: If yes, then explain: ___________________________________________________________ __________________________________________________________________________________ __________________________________________________________________________________ 7. Were there complications after birth? If yes, please give details:___________________________________________ ________________________________________________________________ ________________________________________________________________ 8. How long was infant hospitalization before discharge? If >=1 week, was it related to (please check all that apply) Oxygen requirement for breathing problems Others (please specify) __________________________________________________ 9. Has Mother experienced any documented miscarriages? If yes, how many miscarriages did mother experience? If yes, please list the trimester for the miscarriages: Additional questions:
a. Does the biological mother of the affected patient know her carrier status for Barth Syndrome (i.e. has she been tested to see if she carries the abnormal gene that causes Barth Syndrome)? Yes - the biological mother had gene testing No – the biological mother has not had gene testing Not Sure – if the biological mother has had gene testing Please check all that apply regarding maternal gene testing The biological mother had gene testing and this was POSITIVE for the Barth gene mutation
The biological mother had gene testing and this was NEGATIVE for the Barth gene mutation
The biological mother has NOT had gene testing but must be a carrier because she has
The biological mother has NOT had gene testing but must be carrier because she has at
least one son with Barth syndrome AND has other affected male relative(s) with Barth syndrome (such as uncles/nephews/etc) b. Is the maternal grandmother of the affected patient living or deceased? c. Does the maternal grandmother of the affected patient know her carrier status for Barth Syndrome (i.e. has she been tested to see if she carried the abnormal gene that causes Barth Syndrome)? Yes - the maternal grandmother had gene testing No – the maternal grandmother has not had gene testing Not Sure – if the maternal grandmother has had gene testing If Yes, what is the grandmother’s carrier status: The maternal grandmother had gene testing and this was POSITIVE for the Barth gene The maternal grandmother had gene testing and this was NEGATIVE for the Barth gene The maternal grandmother has NOT had gene testing but must be a carrier because she
has more than one son with Barth syndrome The maternal grandmother has NOT had gene testing but must be carrier because she has
at least one son with Barth syndrome AND has other affected male relative(s) with Barth syndrome (such as uncles/nephews/etc) d. Does the affected patient have any sisters? 1. If yes, do any of the sisters of the affected patient know their carrier status for Barth Syndrome (i.e. have any sisters been tested to see if they carry the abnormal gene that causes Barth Syndrome)? Yes- one or more sisters have been gene tested No – none of the sisters have been gene tested Not sure if any of the sisters have been gene tested If Yes, what are the sisters’ carrier status for each sister below: negative for Barth mutation not sure if gene testing was performed gene testing was performed but the result is not known negative for Barth mutation not sure if gene testing was performed gene testing was performed but the result is not known negative for Barth mutation not sure if gene testing was performed gene testing was performed but the result is not known e. If any other family members have been tested for the Barth mutation, please list the relationship to the affected patient and result below: Individual with Barth syndrome by himself Biological mother of individual with Barth Syndrome Individual with Barth syndrome along with mother Biological parents of individual with Barth syndrome Individual with Barth syndrome along with both parents Biological father of individual with Barth syndrome Individual with Barth syndrome along with father Grandmother of individual with Barth syndrome Adoptive parent(s) of individual with Barth syndrome Other: _____________________________________________________ THANK YOU FOR TAKING THE TIME TO FILL OUT THIS QUESTIONNAIRE!
ADDITIONAL INFORMATION
If you would like to share additional information about you (your son), please do so below ____________________________________________________________________________________ ____________________________________________________________________________________ ____________________________________________________________________________________ ____________________________________________________________________________________ ____________________________________________________________________________________ ____________________________________________________________________________________ ____________________________________________________________________________________ ____________________________________________________________________________________ ____________________________________________________________________________________ ____________________________________________________________________________________ ____________________________________________________________________________________ ____________________________________________________________________________________ ____________________________________________________________________________________ ____________________________________________________________________________________ ____________________________________________________________________________________ ____________________________________________________________________________________ ____________________________________________________________________________________ ____________________________________________________________________________________ ____________________________________________________________________________________ ____________________________________________________________________________________ ____________________________________________________________________________________ ____________________________________________________________________________________ ____________________________________________________________________________________ ____________________________________________________________________________________ ____________________________________________________________________________________ ____________________________________________________________________________________ ____________________________________________________________________________________ ____________________________________________________________________________________ ____________________________________________________________________________________ ____________________________________________________________________________________ ____________________________________________________________________________________ ____________________________________________________________________________________

Source: https://www.peds.ufl.edu/barthsyndromeregistry/registry-enrollment-form.pdf

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