Download family history form.

UCSF Brain Development Research Program
Elliott Sherr MD PhD, Principal Investigator
ACC History form
PLEASE FILL OUT TO THE BEST OF YOUR ABILITY AND RETURN IT TO US UPON COMPLETION. YOUR
RESPONSES TO THESE QUESTIONS WILL BE IN YOUR CONFIDENTIAL RESEARCH FILE. (YOU MAY ADD
EXTRA PAGES AS NEEDED)
Participant’s name (print):
Geneticists, Ophthalmologists, and other
specialists (name, address, phone number):
____________________________________________
__________________________________________
Date of Birth: ___/___/___
Female____ Male_____
__________________________________________
__________________________________________
Mother’s Name (print):
____________________________________________
__________________________________________
__________________________________________
Birth Date: ___/___/___
__________________________________________
Father’s Name (print):
____________________________________________
__________________________________________
Birth Date: ___/___/___
__________________________________________
Who is completing the form? __________________
__________________________________________
Home Address: ______________________________
__________________________________________
____________________________________________
Hospitals Visited (name, address and phone
number):
Phone: Home: _______________________________
__________________________________________
Work: ________________________________
Cell: ________________________________
__________________________________________
E-mail: _____________________________________
__________________________________________
Primary Care Provider (name, address, phone
number)
__________________________________________
__________________________________________
____________________________________________
__________________________________________
____________________________________________
Neurologist (name, address, phone number)
PREGNANCY AND DELIVERY HISTORY:
____
Age of Father at the time of conception: ____
Total # of pregnancies: ____
____________________________________________
Age of Mother at the time of conception:
____________________________________________
Revised 4/2/09
1
h) Was there exposure to any radiation or
chemicals during pregnancy?
Yes / No
____
Total # of miscarriages: ____
Total # of abortions: ____
Total # of deliveries:
i) Studies performed during pregnancy:
 none
 prenatal screen
 CVS
 amnio
 ultrasound
If ultrasound was performed, please describe:
Week
ACC Detected
Other findings
I) Pregnancy:
a) Was there difficulty conceiving?
Yes / No
If yes, were any of the below attempted?
Yes
No
Fertility medication


Assisted reproduction


In Vitro fertilization


Surrogate mother


_____
Yes / No
_____
Yes / No
_____
Yes / No
_________
_________
_________
Other: _______________________
II) Labor and Delivery:
a) Birth Place (circle one): Hospital / Home / Other
b) Did infection, illness, fever, abnormal TSH
level, or STDs occur during pregnancy?
(Please describe)
Yes / No
Name of Hospital: _________________
___________________________
b) Gestation duration: _______ weeks
 term
 pre-term
 post term
City and State: ___________________
c) Was there any physical trauma during
pregnancy? (Please describe)
Yes / No
c) New born:
___________________________
Birth weight:
_____
Length: _____
Head circumference: _____
APGAR scores: ____@ 1min &____@5min
d) Were vitamins, supplements, or medications
used? (Please describe)
Yes / No
Mode of delivery:
___________________________
___________________________
e) Was tobacco used?
Was alcohol used?
Vaginal
C-section
Forceps
Vacuum
d) Did any of the following complications occur?
Yes
No
Cyanosis


Apnea


Respiratory


Cardiac


Seizures


Stroke


Neurologic


Jaundice


Infections


Feeding


Congenital defects


Yes / No
Yes / No
If yes, how often? _________________
f) Were street or “recreational” drugs used during
pregnancy? (Please describe)
Yes / No
___________________________
g) Did any of the following complications occur?
Yes
No
Nausea


Anemia


Hypertension


Preeclampsia


Eclampsia


Bleeding


Hyperglycemia


Please describe:__________________
___________________________
e) Following delivery were special assistance or
medications needed?
Yes / No
Please describe:__________________
Revised 4/2/09
2
Genetic and Metabolic Testing:
___________________________
Have any of the following tests been
performed?
III) Nursery course:
a) How long did you stay in the hospital?
____days
 chromosome analysis
 microarray analysis
 subtelomeric probe analysis
 FISH analysis: specify locus or gene
 urine organic acid analysis
 plasma amino acid analysis
 other non-routine blood tests
____months
b) Was assistance with breathing required?
___________________________
Results: ____________________
c) Were there any infections?
_________________________
___________________________
SEIZURE HISTORY:
d) Was there jaundice?
___________________________
**if seizures have occurred; if not skip to next
section**
Callosal Disorder:
a) When did the seizures first start?
_______
b) What types occurred over time?
(please check one or more)
Partial Seizures
Generalized seizures
I) Diagnosis
a) When was the diagnosis of ACC made?
(Date/age)
 Simple partial
 Complex partial
 Generalized tonic clonic
 Tonic
 Atonic
 Absence  Myoclonic
Others
 Infantile spasms
 Febrile seizures
 Other (please describe)
___________________________
b) What were the presenting symptoms? (please
check)
 Seizures
 Developmental delay
 Microcephaly
 Other
___________________________
___________________________
Please describe:________________
c) Did Status Epilepticus ever occur?
_________________________
d) Has the participant ever been to the ER for
seizures? (If yes, please elaborate)
Yes / No
II) MRI
___________________________
___________________________
a) When was it done? (Date/age)_________
b) Features noted
e) Has the participant ever been admitted to the
hospital for seizures?
Yes/ No
 ACC (agenesis of the corpus callosum)
**circle one if applicable**
Partial
Complete
 Polymicrogyria
 Heterotopia
 Dandy Walker Malformation
 Interhemispheric Cysts
 Hydrocephalus
Revised 4/2/09
Yes / No
If so please elaborate:_______________
___________________________
f) Has the participant ever used Diastat (rectal
Valium)?
Yes / No
If so, how many times? ____________
3
Has it ever not worked? If not, why?
___
Crawl:
___
Pull to stand: ___
Walk:
___
Run:
___
Ride a tricycle: ___
Walk up stairs: ___
Walk down stairs: ___
Scribble:
c) Language/Cognition:
d) Social/Adaptive
skills:
Sit::
___________________________
___________________________
g) What is the current seizure type(s)?
___________________________
h) What is the current seizure frequency? (eg.
#/day or #/month)
___________________________
i) Please list the current medications with dosage
and side effects (if any)
___
Feeds self:
___
with spoon:
___
Draw a circle:
___
Draw a square: ___
Put on own shoe: ___
Hop/Skip:
___
finger foods:
1.__________________________
Coo:
2.__________________________
Babble:
3.__________________________
First word:
4.__________________________
Responds to simple
Point:
___
2 words together: ___
Full sentences: ___
2 way conversation: ___
Toilet trained:
Instruction:
j) Other therapies: VNS/ Ketogenic diet/ surgery
(Please describe)
Yes / No
___________________________
k) Estimated life time seizure frequency: (eg.
#/day or #/month)
________________
Verbal:
Receptive:
Expressive:
Social interactions:
Behavior:
Sleeping:
Feeding:
Activities/ interests:
1.__________________________
2.__________________________
3.__________________________
4.__________________________
m) EEG results:__________________
DEVELOPMENTAL HISTORY:
Revised 4/2/09
Imitate sounds:
Interactive play:
Imaginative play:
Normal
□
□
□
□
□
□
□
□
Delayed
□
□
□
□
□
□
□
□
Height ____________________ Date_________
(Please insert age when first completed task in
months, ‘NA’ for not achieved or ‘L’ for lost skills if
any. If age is not known, insert “NL” for normal or
‘DL’ for delayed.)
I) Developmental skills
a) Gross motor skills:
b) Fine motor skills:
Reach for a toy:
Smile:
___
___
___
___
___
___
___
II) Growth
Please insert the measurements last reported by
your physician.
_______________________________
___
Eye contact:
e) General Skills:
l) Prior medications (dosage, response to the
drug and the reason for discontinuing)
Roll:
___
___
___
Head Circumference _________ Date_________
II) Education
a) School classes (please check if applicable):
Regular:
 Full time
 Partial
___
4
Special Education:
Honors
Resource
 Full time
 Yes
 Yes
 Partial
 No
 No
ii) If abnormal, what is the type of hearing
loss?
□ Sensorineural □ Conductive
2. Hearing aids
b) School performance:
□ below average
□ average
□ above average
□ regression
c) School Problems:
 none
 learning
 processing  behavior
c) Other neurological problems
1. Spasticity /Hypertonia
2. Hypotonia
3. Scoliosis
4. Insensitivity to Pain
5. Temperature dysregulation
6. Headaches
7. Dizziness
8. Numbness
9. Involuntary movements
10. Ticks
11. Tremor
(if yes, please explain answers)
 attention
 impulsive
d) Other interventions or therapies:
Yes No
Frequency


Occupational therapy: 

Speech and language: 



Psychological therapy: 

Physical therapy:
Vision therapy:
_________
_________
_________
_________
_________
II) Cardiac problems:
___________________________
___________________________
I) Neurological problems:
a) Vision
1. Features noted on all exams: (please check)
 Chorioretinal lacunae
 Coloboma
 Optic nerve hypoplasia
 Microopthalmia
 Other
b) Treatment
Please describe___________
Please describe:
Yes / No
___________________________
III) Respiratory problems:
Yes / No
_________________
___________________________
___________________________
Yes / No
If yes please elaborate:______________
___________________________
IV) Gastro intestinal problems:
1. Reflux
Yes / No
2. Diarrhea
Yes / No
3. Constipation Yes / No
4. Special Diet Yes / No
5. Other
Yes / No
Yes / No
If yes, please elaborate:______________
b) Hearing
1. Hearing evaluation (Audiogram)
Yes / No
i) If yes, was the test:
□ Normal
□ Abnormal
Revised 4/2/09
Yes / No
a) Please describe: ________________
MEDICAL HISTORY:
3. Corrective glasses Yes / No
4. Others (example: eye patching)
Yes / No
Yes / No
Yes / No
Yes / No
Yes / No
Yes / No
Yes / No
Yes / No
Yes / No
Yes / No
Yes / No
___________________________
___________________________
___________________________
e) Measures:
IQ: _______
Verbal IQ: _______
Performance IQ: _______
Date: ________
2. Surgeries
Yes / No
Please describe:__________________
___________________________
5
V) Genitourinary or reproductive problems:
Yes / No
b) Does the participant have:
Yes
No
Trouble gauging emotions in others 

Impulse control problems


Problems understanding humor


Problems trusting strangers


Other:_________________________________
Please describe:__________________
___________________________
___________________________
VI) Endocrine problems:
Yes / No
c) What medications has the participant tried for
any of the above:
Medications:
Dosage:
Please describe:__________________
___________________________
___________________________
1. ____________
2. ____________
VII) Skin problems:
Yes / No
3. ____________
Please describe:__________________
___________________________
___________________________
_______
_______
_______
d) Did these medications work? Yes / No
If not, why: _____________________
___________________________
VIII) Orthopedic problems:
Yes / No
Please describe:__________________
XI) Surgeries or hospital visits not listed
above:
___________________________
___________________________
___________________________
___________________________
___________________________
___________________________
___________________________
___________________________
___________________________
X) Behavioral/ Cognitive problems:
XII) Other problems not listed above:
IX) Sleep problems:
Yes / No
Please describe:__________________
Yes / No
___________________________
___________________________
___________________________
___________________________
_________________________
Please describe:__________________
___________________________
___________________________
a) Has the participant received a diagnosis of:
Yes
No
Mental retardation


OCD


Schizophrenia


Learning Disabled


Autism


ADHD


Revised 4/2/09
6
FAMILY HISTORY:
Are mother and father related by blood? (i.e. cousins, uncles, aunts?) Yes / No
Please describe:______________
Age
Major Illness
History of neurological/psychiatric Illness
Mother
Father
Brothers
Sisters
Aunts
Uncles
Cousins
Revised 4/2/09
7
Ethnic Background
In giving us information about your ethnic background, please carefully examine and refer to the following
list of Ethnic Group Categories:
A.
B.
AFRICAN or AFRICAN-AMERICAN
Caucasian, Not Hispanic Origin - WESTERN EUROPEAN (includes Germany, France, The
Netherlands, Switzerland, Belgium, Great Britain, Ireland, Austria, and Portugal)
C.
Caucasian, Not Hispanic Origin - MEDITERRANEAN (includes Italy, Greece, Cyprus, and Turkey)
D.
Caucasian, Not Hispanic Origin - SCANDINAVIAN (includes Norway, Sweden, and Denmark, but
not Finland - see "S" below)
E.
Caucasian, Not Hispanic Origin - US/CANADA (does not include French Canadian ancestry - see
"S" below)
F.
Caucasian, Not Hispanic Origin - RUSSIAN
G.
Caucasian, Not Hispanic Origin - POLISH/SLAVIC/EASTERN EUROPEAN COUNTRIES
H.
Caucasian, Not Hispanic Origin - AUSTRALIAN
I.
Caucasian, Not Hispanic Origin - OTHER
_________________________________________________
J.
Caucasian, Hispanic Origin - MEXICAN-AMERICAN
K. Caucasian, Hispanic Origin - USA/CANADA
L. Caucasian, Hispanic Origin - SPAIN or SOUTH AMERICA
M. Caucasian, Hispanic Origin - MEXICO or CENTRAL AMERICA
N. Caucasian, Hispanic Origin - CARIBBEAN (includes Puerto Rico, Cuba, the Dominican Republic, etc.)
O.
Native American - AMERICAN INDIAN (Tribe:___________________________________________
P.
Asian/Pacific Rim - JAPANESE
Q. Asian/Pacific Rim - CHINESE
R.
Asian/Pacific Rim - Other
______________________________________________________________
S.
Special populations - Amish, Ashkenazi Jews, non-Ashkenazi Jews, French Canadian,
Pennsylvania Dutch, Arab, Finnish, or Icelandic. Please list the one that applies:
____________________________________
T.
OTHER:
_____________________________________________________________________________
U.
UNKNOWN
Please select two categories per person at most.
For example: If father was German and Swedish, write “B” and “D” in the boxes provided.
1. What is the PARTICIPANT”S primary ethnic background?
Where were (s)he born?_______________________________________________________________
City
State
Country
2. What is the primary ethnicity of the biological MOTHER?
Where was the MOTHER born?________________________________________________________
City
State
Country
8
Revised 4/2/09
3. What is the primary ethnicity of the biological FATHER?
Where was the FATHER born?________________________________________________________
City
State
Country
4. What is the primary ethnicity of the MATERNAL GRANDMOTHER?
MATERNAL GrandMOTHER?_________________________________________________________
City
State
Country
5. What is the primary ethnicity of the MATERNAL GRANDFATHER?
MATERNAL GrandFATHER?_________________________________________________________
City
State
Country
6. What is the primary ethnicity of the PATERNAL GRANDMOTHER?
PATERNAL GrandMOTHER?_________________________________________________________
City
State
Country
7. What is the primary ethnicity of the PATERNAL GRANDFATHER?
PATERNAL GrandFATHER?__________________________________________________________
City
State
Country
Social History:
Mother:
Education____________________ Current employment______________________
Marital status  Married/Domestic partners
 Single
Divorced
Widowed
Religion
Christian
Jewish
 Prefer not to say
Islamic
Other
_________________________
Father:
Education____________________ Current employment______________________
Marital status  Married/Domestic partners
 Single
Divorced
Widowed
Religion
Christian
Jewish
 Prefer not to say
Islamic
Other
9
Revised 4/2/09
_________________________
HANDEDNESS:
Please indicate the participant’s preferences in the use of hands in the following activities by putting a check
in the appropriate column. Where the preference is so strong that (s)he would never try to use the other
hand, unless absolutely forced to, put 2 checks. If in any case (s)he is really indifferent, put a check in both
columns.
Some of the activities listed below require the use of both hands. In these cases, the part of the task, or
object, for which hand preference is wanted is indicated in parentheses.
1. Writing
2. Drawing
3. Throwing
4. Scissors
5. Toothbrush
6. Knife (without fork)
7. Spoon
8. Broom (upper hand)
9. Striking Match (match)
10. Opening box (lid)
HANDEDNESS TOTAL(count checks
in both columns)
11. Kicking
Left
Right






















10
Revised 4/2/09
LABORATORY EVALUATIONS AND IMAGING:
Please mail the MRIs to:
Elliott Sherr MD, PhD.
University of California, San Francisco
SHERR LAB
675 Nelson Rising Lane, Box 3206
San Francisco, CA 94158
Evaluation reports from physicians:
1)
2)
3)
4)
5)
6)
7)
8)
Neurology
Genetics evaluation
Developmental Pediatrician
Ophthalmology evaluation
Hearing (Audiology)
Endocrinology
Orthopedic evaluation
Psychiatric evaluation
9) Current history and Physical by primary care physician
Testing and lab reports:
1)
2)
3)
4)
5)
6)
IEP [Individualized Education program (the most recent one)]
Psychological evaluation report
IQ tests
EEG report
Study of nerves and muscles (nerve conduction studies, electromyography, biopsy results)
Genetic testing report (e.g. chromosome analysis, FISH, subtelomeric probe analysis, specific genetic testingFISH analysis, urine organic acid analysis, plasma amino acid analysis and other non-routine blood tests)
7) Others (like Echocardiogram, renal ultrasound, bone films etc.)
8) Various therapy reports
11
Revised 4/2/09
GLOSSARY
Explanations of some of the terms used in the form:
A) ACC (Agenesis of the corpus callosum): Absence of the Corpus Callosum (Corpus Callosum:
The middle structure of the brain composed of the largest bundle of nerve fibers crossing from one
part of the brain to the other.)
B) Bone films: X-rays of the bones.
C) Cyst (in the brain): An abnormal membranous sac containing (usually) a liquid in the brain.
D) Chorioretinal lacunae: Gaps or missing parts in the Choroid and Retina. (Choroid: A part of the
eye ball composed of layers of blood vessels that nourish the back of the eye; Retina: A delicate,
multilayered, light-sensitive membrane lining the inner eye ball and connected by the optic nerve to
the brain.)
E) Choriod plexus papilloma: A benign tumor arising from the blood vessels of the back of the eye.
F) Chromosomes: These are the tiny worm like structures found in all cells through which the
genetic information is transmitted from parents to their children.
G) Chromosome analysis (Karyotyping): A blood test done to count the number of chromosomes
and to look for structural changes in an individual's chromosomes. The results may indicate
genetic changes linked to a disease.
H) Coloboma: An anomaly of the eye, usually a developmental defect often resulting in some loss
of vision.
I) Diastat: A gel preparation of the drug diazepam (also called Valium) for rectal administration in
the treatment of seizures. This can be administered at home.
J) Echocardiogram: An ultrasound of the heart, done to see if there is any problem with the
functioning of the heart or any abnormality in the structure of the heart.
K) EEG (Electroencephalogram): A graphic record showing the electrical activity of an individual's
brain. This test may have been done to record seizure activity.
L) FISH analysis (Fluorescent in- Situ Hybridization): A technique used to locate a particular gene
on a chromosome. It is also a blood test.
M) Heterotopia: Displacement of the Gray matter, usually into the deep cerebral white matter.
(Gray matter: Gray matter consists of thin layers of tissue of cell bodies such as neurons and
support cells; White matter: is the area of the brain with the nerve fibers that transmit signals; both
Gray and White matter are found in the brain and the spinal cord.)
12
Revised 4/2/09
N) Hydrocephalus: an abnormal increase in the amount of fluid within the cranial cavity that is
accompanied by expansion of the cerebral ventricles, enlargement of the skull and especially the
forehead, and atrophy of the brain. (Cranial cavity: a cavity in side the head in which the brain is
located; Cerebral ventricles: The spaces within the brain containing a fluid called the
‘Cerebrospinal fluid’; Atrophy of the brain: wasting away or a decrease in the size of the brain.)
O) Ketogeneic diet: People on a ketogenic diet have to eat mostly fatty foods, such as butter,
cream and peanut butter. It may help to control or abort a seizure.
P) Microophthalmia: Abnormally small eye ball.
Q) Optic nerve hypoplasia: Incomplete or arrested development of the optic nerve (Optic nerve: is
the nerve connecting the eye ball to the brain).
R) Plasma amino acid analysis: A blood test to see if the individual has any metabolic defects or
diseases associated with protein (or amino acid) metabolism.
S) Polymicrogyria: Many abnormally small convex folds of the brain.
T) Renal ultrasound: An ultrasound of the kidneys. It is done to see if there is any structural
abnormality in the kidneys.
U) SEIZURES:
1) Partial Seizures: arise from a part of the brain.
a) Simple partial seizures: Seizure activity originating from a part of the brain with no loss of
consciousness.
b) Complex partial seizures: Seizure activity originating from a part of the brain with a change
in or loss of consciousness (His or her consciousness may be altered, producing a dream
like experience).
2) Generalized seizures: arise from both the sides of the brain and can alter the level of
consciousness.
a) Generalized tonic clonic seizure: cause a mixture of symptoms, including stiffening of the
body and repeated jerks of the arms and and/or legs as well as loss of consciousness.
b) Tonic seizures: cause stiffening of muscles of the body, generally those in the back, legs and
arms.
c) Atonic seizures: cause a loss of normal muscle tone.
d) Myoclonic seizures: Myoclonic seizures cause jerks or twitches of the upper body, arms, or
legs.
e) Absence seizures: During absence seizures, the person may appear to be staring into
space and/or have jerking or twitching muscles.
3) Others:
a) Infantile spasms: Brief muscular spasms in infants, usually lasting from one to three seconds
and often appearing as nodding spasms.
13
Revised 4/2/09
b) Febrile seizures: Febrile seizures are convulsions brought on by a fever in infants or small
children. During a febrile seizure, a child often loses consciousness and shakes. Less
commonly, a child becomes rigid or has twitches in only a portion of the body. Most febrile
seizures last a minute or two; some can be as brief as a few seconds, while others last for more
than 15 minutes.
4) Status Epilepticus: Status Epilepticus is best defined as a continuous, generalized, convulsive
seizure lasting more than five minutes, or two or more seizures during which the patient does not
return to baseline consciousness.
V) Studies of nerves and muscles: These may be done to record any problems with muscle tone or
difficulty in movement. They help us to understand if there are any problems with the transmission
of information from an individual's brain to his/her muscle.
W) Subtelomeric probe analysis: A process of analyzing the arrangement of genes near the ends
of the chromosomes. It is also a blood test.
X) Urine organic acid analysis: A urine test to see if the individual has any metabolic defects or
diseases associated with inborn errors of organic acids, protein (amino acid) metabolism etc.
Y) VNS (Vagal nerve stimulator): The VNS is a device about the size of a hockey puck, which is
placed in the chest in a manner similar to a pacemaker for the heart. Once implanted, the
neurologist will program the VNS to deliver a series of stimulations to the vagus nerve at various
strengths and frequencies. It can be used to prevent the occurrence of a seizure or in aborting the
seizure. (Vagus nerve: is a nerve which arises from the brain and supplies many organs of the
body.
14
Revised 4/2/09