Children’s Hospital Boston Center for Strabismus Research Genetic studies of Strabismus, Congenital Cranial Dysinnervation Disorders (CCDDs) and their associated anomalies
PARTICIPANT QUESTIONNAIRE
PARTICIPANT CONTACT DETAILS & MEDICAL QUESTIONNAIRE To be completed by the Research Study Coordinator: Study Participant ID number:
Coordinator initials:
Date Form Completed: MM/DD/YYYY
_ _ / _ _/ _ _ _ _
This form should be completed by or on behalf of each participating family member: Study Participant Demographics Name:
____________________________________________________
Gender:
Male
Street Address: City:
Female
___________________________________________________
___________________________
Home Tel: (
Date of Birth:_ _ / _ _ / _ _ _ _
) __________________
State: __________ Cell Phone: (
Apt/Unit # _____________
Zip Code: __________
Country:______________
) _____________________
Email: __________________________________________________________________ Ethnic Background The National Institutes of Health (which, in part, sponsors this research) require us to collect information on your ethnic background. Would you describe yourself as: White, non Hispanic
Hispanic
Asian or Pacific Islander
Other
Native American or Alaskan
Black, non Hispanic
Please describe your ethnic background in detail, such as the countries of origin of your grandparents:
_______________________________________________________________________________________________ Are you the original study subject, i.e. the person in your family initially identified with Yes the eye disorder? If NO, what is your relation to the original study subject? Father Mother Sister Brother Grandmother Grandfather Uncle Aunt Cousin
No
Other (please describe):
Page 1
Children’s Hospital Boston, CLS14076, 3 Blackfan Circle, Boston, MA 02115 Tel: 617-919-2168/617-919-2164 IRB Protocol # 05-03-036R
Children’s Hospital Boston Center for Strabismus Research Genetic studies of Strabismus, Congenital Cranial Dysinnervation Disorders (CCDDs) and their associated anomalies
History of Eye Symptoms/Problems PARTICIPANT (In the following section, please provide details relatingQUESTIONNAIRE to your ocular health history) : Have you ever had or suspected you have strabismus (misaligned eye(s))? What condition do you currently have? Please indicate all conditions that apply.
Yes
No
I‟m not sure
Esotropia (crossed eye or inward drifting/deviated eye) Exotropia (wandering eye or outward drifting/deviated eye) Hyper or hypo tropia (vertical deviation, eye drifts up or down) Other forms or unsure (specify): ________________________________________ No strabismus, condition resolved
If yes, has this condition been diagnosed by a specialist?
Yes
No
I‟m not sure
If yes, have you had eye muscle surgery to correct strabismus?
Yes
No
I‟m not sure
If you have had surgery, or if your strabismus has changed, what direction did your eye(s) originally deviate?
Do you have amblyopia (decreased vision in one eye or “lazy eye”)? Have you ever been treated for amblyopia (patching an eye or using atropine eye drops)?
Esotropia Exotropia Hyper or hypo tropia Esotropia Other forms or unsure (specify: _____________________
Yes
No
I‟m not sure
Yes
No
I‟m not sure
Do you wear glasses?
Yes
No
I‟m not sure
Did you wear glasses before age 6? Why do you wear glasses? Please indicate all that apply:
Yes No I‟m not sure Myopia (or nearsighted) Hyperopia (or farsighted) Anisometropia (unequal focusing of the eyes) Astigmatism Presbyopia (reading glasses needed as an adult)
Do you have reduced or absent stereopsis (trouble with depth perception)?
Yes
No
I‟m not sure
Can you appreciate 3D movies, games pictures etc?
Yes
No
I‟m not sure
Do you have double vision?
Yes
No
I‟m not sure
Do you have ptosis (droopy eyelid)?
Yes
No
I‟m not sure
Any other eye condition not mentioned above?
Yes
No
I‟m not sure
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Children’s Hospital Boston, CLS14076, 3 Blackfan Circle, Boston, MA 02115 Tel: 617-919-2168/617-919-2164 IRB Protocol # 05-03-036R
Children’s Hospital Boston Center for Strabismus Research Genetic studies of Strabismus, Congenital Cranial Dysinnervation Disorders (CCDDs) and their associated anomalies
PARTICIPANT QUESTIONNAIRE If yes, please describe further: _____________________________________________________________________ _____________________________________________________________________________________________ _____________________________________________________________________________________________
As an infant when did you first produce tears?
__________________________________________________
Do you tear when eating or chewing?
Yes
No
I‟m not sure
Do you have dry eyes?
Yes
No
I‟m not sure
If your eyes are dry, what treatment do you use?
If you answered YES to any of the above questions, please provide further details (i.e. age of onset of eye condition, dates of surgery, name of procedure if known, reason for glasses, etc.) _____________________________________________________________________________________________ _____________________________________________________________________________________________
Ophthalmologist Information: If you currently see an ophthalmologist or have seen one in the past, please provide his or her contact information. If your ophthalmologist is at Children’s Hospital Boston, you need only provide his/her name. Name: ________________________________________________________________________ Street Address: _________________________________________________________________ City: _____________________ State: ____________ Zip: _____________ Country: _________ Office Tel: (
) ___________________
Fax No: (
) ______________________
Email: ________________________________________________________________________
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Children’s Hospital Boston, CLS14076, 3 Blackfan Circle, Boston, MA 02115 Tel: 617-919-2168/617-919-2164 IRB Protocol # 05-03-036R
Children’s Hospital Boston Center for Strabismus Research Genetic studies of Strabismus, Congenital Cranial Dysinnervation Disorders (CCDDs) and their associated anomalies
Other Eye Conditions:
PARTICIPANT QUESTIONNAIRE
Do you have a coloboma? (Absence or defect of ocular tissue ranging from a small pit in the optic disk to extensive defects in the iris, ciliary body, choroid, retina, or optic disk).
Yes
No
I‟m not sure
Do you have microphthalmia? (Abnormally small eye).
Yes
No
I‟m not sure
Yes
No
I‟m not sure
Yes
No
I‟m not sure
Yes
No
I‟m not sure
Do you have epibulbar dermoids? (Eye tumors that are not recurrent or progressive).
Do you have any abnormal ocular features? (eg. epicanthal folds-tissue overlapping the nasal corner of the eye, telecanthus- increased distance between the inner corners of the eyes, slanting of the palpebral fissure(s)opening for the eyes between the eyelids?).
Do you have any retinal defects? (retinal tears, detachments, etc.).
If you answered YES to any question above, please describe: ___________________________________________ ____________________________________________________________________________________________
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Children’s Hospital Boston, CLS14076, 3 Blackfan Circle, Boston, MA 02115 Tel: 617-919-2168/617-919-2164 IRB Protocol # 05-03-036R
Children’s Hospital Boston Center for Strabismus Research Genetic studies of Strabismus, Congenital Cranial Dysinnervation Disorders (CCDDs) and their associated anomalies
PARTICIPANT QUESTIONNAIRE Family History Chart: If you are the original study subject, please complete this page by circling as appropriate. If you are not the main study subject, please continue to Page 6. ½ sibling GrandMother Father Aunt / Glasses before age 6 Brother Sister through Father / Other: (M) (F) Uncle M/F Mother ½ sibling GrandAunt / Patching Mother Father Brother Sister through Father / Other: Uncle M/F Mother ½ sibling GrandAmblyopia Aunt / Mother Father Brother Sister through Father / Other: (“Lazy Eye”) Uncle M/F Mother ½ sibling GrandAunt / Common Strabismus Mother Father Brother Sister through Father / Other: Uncle M/F Mother ½ sibling GrandAunt / Eye Muscle Surgery Mother Father Brother Sister through Father / Other: Uncle M/F Mother Congenital ptosis ½ sibling GrandAunt / (Drooping eye since Mother Father Brother Sister through Father / Other: Uncle birth) M/F Mother ½ sibling GrandAunt / Complex Strabismus Mother Father Brother Sister through Father / Other: Uncle M/F Mother ½ sibling GrandOther: Aunt / Childhood glaucoma Mother Father Brother Sister through Father / Uncle M/F Mother ½ sibling GrandOther: Aunt / Glaucoma Mother Father Brother Sister through Father / Uncle M/F Mother ½ sibling GrandOther: Aunt / Childhood cataracts Mother Father Brother Sister through Father / Uncle M/F Mother ½ sibling GrandOther: Aunt / Childhood blindness Mother Father Brother Sister through Father / Uncle M/F Mother ½ sibling GrandOther: Aunt / Blindness Mother Father Brother Sister through Father / Uncle M/F Mother ½ sibling GrandOther: Aunt / Macular Degeneration Mother Father Brother Sister through Father / Uncle M/F Mother ½ sibling GrandOther: Aunt / Diabetic Eye Disease Mother Father Brother Sister through Father / Uncle M/F Mother Other Eye Disease ½ sibling GrandOther: Aunt / (retinal detachment, Mother Father Brother Sister through Father / Uncle etc.) M/F Mother ½ sibling GrandOther: Anosmia (inability to Aunt / Mother Father Brother Sister through Father / smell) Uncle M/F Mother Page 5
Children’s Hospital Boston, CLS14076, 3 Blackfan Circle, Boston, MA 02115 Tel: 617-919-2168/617-919-2164 IRB Protocol # 05-03-036R
Children’s Hospital Boston Center for Strabismus Research Genetic studies of Strabismus, Congenital Cranial Dysinnervation Disorders (CCDDs) and their associated anomalies
Facial weakness
Mother
½ sibling
Grand-
M/F ½ sibling through M/F ½ sibling through M/F ½ sibling through M/F ½ sibling through M/F ½ sibling through M/F ½ sibling through M/F ½ sibling through M/F ½ sibling through M/F
Mother GrandFather / Mother GrandFather / Mother GrandFather / Mother GrandFather / Mother GrandFather / Mother GrandFather / Mother GrandFather / Mother GrandFather / Mother
PARTICIPANT Father Brother QUESTIONNAIRE Sister through Father /
Moebius syndrome
Mother
Father
Brother
Sister
Hearing loss
Mother
Father
Brother
Sister
Other Neurological Disorder (please describe below)
Mother
Father
Brother
Sister
Skeletal abnormality
Mother
Father
Brother
Sister
Organ abnormality
Mother
Father
Brother
Sister
Genetic Disorder
Mother
Father
Brother
Sister
Peripheral neuropathy
Mother
Father
Brother
Sister
Myopathy
Mother
Father
Brother
Sister
Aunt / Uncle Aunt / Uncle Aunt / Uncle Aunt / Uncle Aunt / Uncle Aunt / Uncle Aunt / Uncle Aunt / Uncle Aunt / Uncle
Other:
Other:
Other:
Other:
Other:
Other:
Other:
Other:
Other:
If you selected „Other‟ please provide further details: ___________________________________________________ _____________________________________________________________________________________________
_____________________________________________________________________________________________
_____________________________________________________________________________________________
_____________________________________________________________________________________________
_____________________________________________________________________________________________
_____________________________________________________________________________________________
_____________________________________________________________________________________________
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Children’s Hospital Boston, CLS14076, 3 Blackfan Circle, Boston, MA 02115 Tel: 617-919-2168/617-919-2164 IRB Protocol # 05-03-036R
Children’s Hospital Boston Center for Strabismus Research Genetic studies of Strabismus, Congenital Cranial Dysinnervation Disorders (CCDDs) and their associated anomalies
Medical History:
PARTICIPANT QUESTIONNAIRE
Please provide information regarding your medical history in the following sections. These sections should be completed by, or on behalf of, all participants Birth History Were you born full term? If NO, after how many weeks gestation were you born?
Yes
No
I‟m not sure
_______ weeks
__________ pregnancies How many pregnancies did your mother have? __________ live births Of these pregnancies, how many were live births?
What was your birth weight? How old was your mother when you were born? How old was your father when you were born? Were any medications used during pregnancy?
______lbs
I‟m not sure
_______ oz
_______ years old
I‟m not sure
_______ years old
I‟m not sure
Yes
No
I‟m not sure
Yes
No
I‟m not sure
If YES please describe when during pregnancy:
If YES please list all medications taken:
Did your mother smoke cigarettes during her pregnancy with you?
If YES, please specify:
Did your mother drink alcohol during her pregnancy with you?
Yes
No
I‟m not sure
Until ________weeks gestation OR Throughout pregnancy _____________ drinks per week
If YES, specify
Did your mother have any complications during her pregnancy with you? (eg. placenta previa, gestational diabetes, etc.)
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Until ________weeks gestation OR Throughout pregnancy ________ cigarettes per day
Yes
No
I‟m not sure
Children’s Hospital Boston, CLS14076, 3 Blackfan Circle, Boston, MA 02115 Tel: 617-919-2168/617-919-2164 IRB Protocol # 05-03-036R
Children’s Hospital Boston Center for Strabismus Research Genetic studies of Strabismus, Congenital Cranial Dysinnervation Disorders (CCDDs) and their associated anomalies
PARTICIPANT QUESTIONNAIRE If YES please describe: Were there any complications during delivery? (i.e. abnormal presentation, c-section, etc.)
Yes
No
I‟m not sure
Yes
No
I‟m not sure
Yes
No
I‟m not sure
If YES please describe:
Did you have a prolonged hospital stay after birth? If YES please describe:
Did you have any abnormalities in height, weight or head circumference at or after birth? If YES please describe:
General Review Which is your dominant hand?
Right Left Ambidextrous ______ Feet
I‟m not sure
______ Inches I‟m not sure
What is your current height? Grade School
Middle School
High School
Please describe your current educational experience. College/University
Have you had chromosomal analysis, microarray analysis, or any specific genetic testing??
Graduate/Professional
Yes
No
I‟m not sure
Yes
No
I‟m not sure
Yes
No
I‟m not sure
Yes
No
I‟m not sure
If YES please describe what and by whom:
Have you ever undergone imaging study (eg. CT, MRI) If YES please describe of what (brain, other organ) when, and where, and what you know of the results:
Have you ever undergone any testing other than already indicated? If YES please describe: Have you ever undergone surgery or been hospitalized?
Page 8
Children’s Hospital Boston, CLS14076, 3 Blackfan Circle, Boston, MA 02115 Tel: 617-919-2168/617-919-2164 IRB Protocol # 05-03-036R
Children’s Hospital Boston Center for Strabismus Research Genetic studies of Strabismus, Congenital Cranial Dysinnervation Disorders (CCDDs) and their associated anomalies
PARTICIPANT QUESTIONNAIRE If YES please describe:
Please list any medications that you are currently taking. Ear / Hearing Function Have you had a history of chronic ear infections?
Yes
No
I‟m not sure
Do you have any hearing loss?
Yes
No
I‟m not sure
If YES, please check all that apply:
Do you have any ear abnormalities including low set ears, abnormal lobe shape, or pre-auricular appendages?
Conductive
Sensorineural
Unilateral
Bilateral
High frequency
Low frequency
Congenital
Acquired
Stable
Fluctuating
Yes
No
I‟m not sure
Yes
No
I‟m not sure
If YES please describe: Developmental History Do you have/have you ever had any developmental delays?
Gross Motor
Speech and Language
Fine Motor
Social
Yes
No
I‟m not sure
Yes
No
I‟m not sure
Yes
No
I‟m not sure
If YES, please check all that apply:
Do you have/have you ever had any learning disabilities? If YES please describe:
Do you have Attention Deficit (Hyperactivity) Disorder? If YES please describe:
Do you have Autism Spectrum Disorder? If YES please describe:
Page 9
Children’s Hospital Boston, CLS14076, 3 Blackfan Circle, Boston, MA 02115 Tel: 617-919-2168/617-919-2164 IRB Protocol # 05-03-036R
Children’s Hospital Boston Center for Strabismus Research Genetic studies of Strabismus, Congenital Cranial Dysinnervation Disorders (CCDDs) and their associated anomalies
Neurological Function
PARTICIPANT QUESTIONNAIRE
Do you have, or have you ever suffered from anxiety? (generalized anxiety, social phobia, panic disorder, agoraphobia, obsessive-compulsive disorder, specific phobia, post-traumatic stress disorder) Yes
No
I‟m not sure
Yes
No
I‟m not sure
Do you have a history of seizures?
Yes
No
I‟m not sure
Do you have/have you ever had altered facial sensation?
Yes
No
I‟m not sure
Do you have/have you ever had facial weakness?
Yes
No
I‟m not sure
Yes
No
I‟m not sure
Yes
No
I‟m not sure
Do you have/have you ever had problems swallowing?
Yes
No
I‟m not sure
Do you have/have you ever had problems tasting?
Yes
No
I‟m not sure
Do you have a normal sense of smell?
Yes
No
I‟m not sure
Do you have/have you ever had a Peripheral Neuropathy (a condition of the nervous system that usually causes tingling, burning and/or weakness in the face, hands, arms, legs and/or torso)?
Yes
No
I‟m not sure
If YES please describe:
Have you ever been diagnosed with depression, a mood disorder, or other psychiatric disease? If YES please describe:
Do you have high arched palate or cleft palate? Do you have velopharyngeal insufficiency?
If YES, is it: Do you have/have you ever had any muscle weakness?
Axonal Myelinating I‟m not sure Yes
No
I‟m not sure
Progressive Static
Improving
If YES, is it: I‟m not sure Do you have/have you ever had abnormal muscle tone? If YES, is it: Have you ever been diagnosed with a myopathy?
Page 10
Yes
No
Low
High
Yes
No
I‟m not sure I‟m not sure I‟m not sure
Children’s Hospital Boston, CLS14076, 3 Blackfan Circle, Boston, MA 02115 Tel: 617-919-2168/617-919-2164 IRB Protocol # 05-03-036R
Children’s Hospital Boston Center for Strabismus Research Genetic studies of Strabismus, Congenital Cranial Dysinnervation Disorders (CCDDs) and their associated anomalies
PARTICIPANT QUESTIONNAIRE Do you have/have you ever had episodes of ataxia (clumsy and unsteady movement of the limbs)? Yes No Do you have/have you ever had any other neurological issues?
Yes
No
I‟m not sure I‟m not sure
If you answered YES above, please describe in more detail: _____________________________________________________________________________________________ _____________________________________________________________________________________________
Endocrine and hypothalamic function Do you have short stature or specific growth abnormalities?
Yes
No
I‟m not sure
Have you entered puberty?
Yes
No
I‟m not sure
Have you developed body hair and bodily odor?
Yes
No
I‟m not sure
Yes
No
I‟m not sure
Yes
No
I‟m not sure
Yes
No
I‟m not sure
If YES please describe:
If you are female and have entered puberty, at what age did your periods first start? If you are male, were there any concerns during your infancy of small penis or undescended testicles? Do you have any sleep problems? If YES, please describe:
Do you have difficulty with controlling your appetite or having low desire to eat? If YES, please describe:
Have you unintentionally gained or lost significant weight in the last year? If YES, please describe:
Do you have, or have you ever, had any difficulty regulating your body temperature? Yes No I‟m not sure Children’s Hospital Boston, CLS14076, 3 Blackfan Circle, Boston, MA 02115 Tel: 617-919-2168/617-919-2164 IRB Protocol # 05-03-036R Page 11
Children’s Hospital Boston Center for Strabismus Research Genetic studies of Strabismus, Congenital Cranial Dysinnervation Disorders (CCDDs) and their associated anomalies
If YES, please describe:
PARTICIPANT QUESTIONNAIRE
Heart, Lung and Gastrointestinal Function Do you have/have you ever had any congenital (since birth) heart defects?
Yes
No
I‟m not sure
Do you have/have you ever had any other cardiac problems?
Yes
No
I‟m not sure
Do you have/have you ever had any allergies/asthma?
Yes
No
I‟m not sure
Do you have/have you ever had any other respiratory problems?
Yes
No
I‟m not sure
Do you have/have you ever had any gastrointestinal problems? (eg. Gastroesophageal Reflux Disease (GERD), irritable bowel syndrome, Celiac Disease, constipation, etc.)
Yes
No
I‟m not sure
Do you have problems with abnormal or excessive vomiting?
Yes
No
I‟m not sure
Have you ever been hospitalized for vomiting?
Yes
No
I‟m not sure
If you answered YES to heart, lung and gastrointestinal function, please describe in more detail: ___________________________________________________________________________________________
___________________________________________________________________________________________
___________________________________________________________________________________________
Urinary/Genital Function Do you have/have you ever had any problems or birth anomalies related to your kidneys (eg. ectopic kidney-a kidney not located in its normal place, multicystic dysplastic kidney-development of cysts in the kidney, hydronephrosis-abnormal kidney enlargement)?
Yes
No
I‟m not sure
Do you have/have you ever had any genitalia or reproductive organ problems or birth anomalies?
Yes
No
I‟m not sure
Page 12
Children’s Hospital Boston, CLS14076, 3 Blackfan Circle, Boston, MA 02115 Tel: 617-919-2168/617-919-2164 IRB Protocol # 05-03-036R
Children’s Hospital Boston Center for Strabismus Research Genetic studies of Strabismus, Congenital Cranial Dysinnervation Disorders (CCDDs) and their associated anomalies
PARTICIPANT QUESTIONNAIRE If you answered YES above, please describe in more detail: ____________________________________________ ____________________________________________________________________________________________
____________________________________________________________________________________________
Musculoskeletal & Ectodermal (Skin) Function Do you have fused vertebrae?
Yes
No
I‟m not sure
Do you have Scoliosis?
Yes
No
I‟m not sure
Do you have Arthrogryposis (stiff joints and abnormal muscle development)?
Yes
No
I‟m not sure
Do you have osteroporosis (thinning of bone tissue and loss of bone density over time)?
Yes
No
I‟m not sure
Do you have/have you ever had any upper limb defects (eg. arm, hand, finger)?
Yes
No
I‟m not sure
Do you have/have you ever had any lower limb defects (eg. leg, foot, toes)?
Yes
No
I‟m not sure
Do you have/have you ever had any problems or birth anomalies related to your skin, hair, teeth, or nails? (i.e. eczema, soft teeth, missing nails, etc.)
Yes
No
I‟m not sure
If you have osteroporosis at what age was it diagnosed?
If you answered YES above, please describe in more detail: ___________________________________________ ___________________________________________________________________________________________
Is there any other information related to your medical history or family history you feel would be helpful for this study? _____________________________________________________________________________________________ _____________________________________________________________________________________________ _____________________________________________________________________________________________
Thank you for completing our questionnaire!
Page 13
Children’s Hospital Boston, CLS14076, 3 Blackfan Circle, Boston, MA 02115 Tel: 617-919-2168/617-919-2164 IRB Protocol # 05-03-036R
