UCSF Brain Development Research Program Elliott Sherr MD PhD, Principal Investigator

ACC History formPLEASE 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):

____________________________________________

Date of Birth: ___/___/___ Female____ Male_____

Mother’s Name (print):

____________________________________________

Birth Date: ___/___/___

Father’s Name (print): ____________________________________________

Birth Date: ___/___/___

Who is completing the form? __________________

Home Address: ______________________________

____________________________________________

Phone: Home: _______________________________ Work: ________________________________ Cell: ________________________________

E-mail: _____________________________________

Primary Care Provider (name, address, phone number) ____________________________________________

____________________________________________Neurologist (name, address, phone number) ____________________________________________

____________________________________________

Geneticists, Ophthalmologists, and other specialists (name, address, phone number): __________________________________________

__________________________________________

__________________________________________

__________________________________________

__________________________________________

__________________________________________

__________________________________________

__________________________________________

__________________________________________

__________________________________________

Hospitals Visited (name, address and phone number):

__________________________________________

__________________________________________

__________________________________________ __________________________________________

__________________________________________

__________________________________________

PREGNANCY AND DELIVERY HISTORY:Age of Mother at the time of conception: ____Age of Father at the time of conception: ____

Revised 4/2/09 1

Total # of pregnancies: ____Total # of deliveries: ____Total # of miscarriages: ____Total # of abortions: ____

I) Pregnancy:a) Was there difficulty conceiving? Yes / NoIf yes, were any of the below attempted?

Yes NoFertility medication Assisted reproduction In Vitro fertilization Surrogate mother

Other: _______________________

b) Did infection, illness, fever, abnormal TSH level, or STDs occur during pregnancy? (Please describe) Yes / No___________________________

c) Was there any physical trauma during pregnancy? (Please describe) Yes / No___________________________

d) Were vitamins, supplements, or medications used? (Please describe) Yes / No______________________________________________________

e) Was tobacco used? Yes / No Was alcohol used? Yes / NoIf 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

h) Was there exposure to any radiation or chemicals during pregnancy? Yes / No

i) Studies performed during pregnancy: none prenatal screen CVS amnio ultrasoundIf ultrasound was performed, please describe:Week ACC Detected Other findings_____ Yes / No _________ _____ Yes / No ______________ Yes / No _________II) Labor and Delivery: a) Birth Place (circle one): Hospital / Home / OtherName of Hospital: _________________City and State: ___________________

b) Gestation duration: _______ weeks term pre-term post term

c) New born: Birth weight: _____ Length: _____ Head circumference: _____ APGAR scores: ____@ 1min &____@5min Mode of delivery: Vaginal Forceps

C-section Vacuum

d) Did any of the following complications occur?Yes No

Cyanosis Apnea Respiratory Cardiac Seizures Stroke Neurologic Jaundice Infections Feeding Congenital defects

Please describe:_____________________________________________

e) Following delivery were special assistance or medications needed? Yes / No Please describe:__________________

Revised 4/2/09 2

___________________________

III) Nursery course:a) How long did you stay in the hospital?

____days ____months

b) Was assistance with breathing required? ___________________________

c) Were there any infections? ___________________________

d) Was there jaundice? ___________________________

Callosal Disorder:

I) Diagnosisa) When was the diagnosis of ACC made? (Date/age)___________________________

b) What were the presenting symptoms? (please check)

Seizures Developmental delay Microcephaly Other Please describe:_________________________________________

II) MRIa) When was it done? (Date/age)_________

b) Features noted ACC (agenesis of the corpus callosum)

**circle one if applicable**PartialComplete

Polymicrogyria Heterotopia Dandy Walker Malformation Interhemispheric Cysts Hydrocephalus

Genetic and Metabolic Testing: Have any of the following tests been performed? 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

Results: _____________________________________________

SEIZURE HISTORY:**if seizures have occurred; if not skip to next section**a) When did the seizures first start? _______

b) What types occurred over time? (please check one or more) Partial Seizures Generalized seizures Simple partial Generalized tonic clonic

Complex partial Tonic Atonic Absence Myoclonic

Others Infantile spasms Febrile seizures Other (please describe)

______________________________________________________

c) Did Status Epilepticus ever occur? Yes / No

d) Has the participant ever been to the ER for seizures? (If yes, please elaborate) Yes / No ______________________________________________________

e) Has the participant ever been admitted to the hospital for seizures? Yes/ NoIf so please elaborate:__________________________________________

f) Has the participant ever used Diastat (rectal Valium)? Yes / No If so, how many times? ____________

Revised 4/2/09 3

Has it ever not worked? If not, why? ______________________________________________________

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)1.__________________________ 2.__________________________3.__________________________4.__________________________

j) Other therapies: VNS/ Ketogenic diet/ surgery (Please describe) Yes / No

___________________________

k) Estimated life time seizure frequency: (eg. #/day or #/month) ________________

l) Prior medications (dosage, response to the drug and the reason for discontinuing)1.__________________________2.__________________________3.__________________________4.__________________________

m) EEG results:_________________________________________________

DEVELOPMENTAL HISTORY:(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 skillsa) Gross motor skills: b) Fine motor skills:

Roll: ___ Reach for a toy: ___Sit:: ___ Scribble: ___Crawl: ___ Feeds self:

Pull to stand: ___ finger foods: ___Walk: ___ with spoon: ___Run: ___ Draw a circle: ___Ride a tricycle: ___ Draw a square: ___Walk up stairs: ___ Put on own shoe: ___Walk down stairs: ___ Hop/Skip: ___ c) Language/Cognition: d) Social/Adaptive

skills:Coo: ___ Eye contact: ___Babble: ___ Smile: ___First word: ___ Imitate sounds: ___Responds to simple Point: ___ Instruction: ___ Toilet trained: ___2 words together: ___ Interactive play: ___Full sentences: ___ Imaginative play: ___2 way conversation: ___

e) General Skills: Normal DelayedVerbal: □ □Receptive: □ □Expressive: □ □Social interactions: □ □Behavior: □ □Sleeping: □ □Feeding: □ □Activities/ interests: □ □

II) GrowthPlease insert the measurements last reported by your physician.

Height ____________________ Date_________

Head Circumference _________ Date_________

II) Educationa) School classes (please check if applicable):

Revised 4/2/09 4

Regular: Full time PartialSpecial Education: Full time PartialHonors Yes NoResource Yes No

b) School performance:□ below average □ average□ above average □ regression

c) School Problems: none learning attention processing behavior impulsive

d) Other interventions or therapies: Yes No Frequency

Physical therapy: _________ Occupational therapy: _________Speech and language: _________Vision therapy: _________Psychological therapy: _________

e) Measures:IQ: _______ Verbal IQ: _______ Performance IQ: _______Date: ________

MEDICAL HISTORY:I) Neurological problems: a) Vision1. Features noted on all exams: (please check)

Chorioretinal lacunae Coloboma Optic nerve hypoplasia Microopthalmia Other

Please describe___________

2. Surgeries Yes / No If yes please elaborate:______________ ___________________________ 3. Corrective glasses Yes / No 4. Others (example: eye patching) Yes / No If yes, please elaborate:______________ b) Hearing 1. Hearing evaluation (Audiogram) Yes / No i) If yes, was the test:

□ Normal □ Abnormal ii) If abnormal, what is the type of hearing

loss? □ Sensorineural □ Conductive 2. Hearing aids Yes / No

c) Other neurological problems 1. Spasticity/Hypertonia Yes / No 2. Hypotonia Yes / No 3. Scoliosis Yes / No 4. Insensitivity to Pain Yes / No 5. Temperature dysregulation Yes / No 6. Headaches Yes / No 7. Dizziness Yes / No 8. Numbness Yes / No 9. Involuntary movements Yes / No 10. Ticks Yes / No 11. Tremor Yes / No(if yes, please explain answers)_________________________________________________________________________________

II) Cardiac problems: Yes / Noa) Please describe: ______________________________________________________________________

b) Treatment Yes / No___________________________

III) Respiratory problems: Yes / NoPlease describe: _______________________________________________________________________

IV) Gastro intestinal problems:1. Reflux Yes / No2. Diarrhea Yes / No3. Constipation Yes / No4. Special Diet Yes / No5. Other Yes / NoPlease describe:__________________

Revised 4/2/09 5

___________________________

V) Genitourinary or reproductive problems: Yes / No

Please describe:________________________________________________________________________

VI) Endocrine problems: Yes / NoPlease describe:________________________________________________________________________

VII) Skin problems: Yes / NoPlease describe:________________________________________________________________________

VIII) Orthopedic problems: Yes / NoPlease describe:________________________________________________________________________

IX) Sleep problems: Yes / NoPlease describe:________________________________________________________________________

X) Behavioral/ Cognitive problems: Yes / NoPlease describe:________________________________________________________________________

b) Does the participant have: Yes No

Trouble gauging emotions in others Impulse control problems Problems understanding humor Problems trusting strangers

Other:_________________________________

c) What medications has the participant tried for any of the above:Medications: Dosage:1. ____________ _______2. ____________ _______3. ____________ _______

d) Did these medications work? Yes / NoIf not, why: ________________________________________________

XI) Surgeries or hospital visits not listed above:_______________________________________________________________________________________________________________________________________

XII) Other problems not listed above:_____________________________________________________________________________________________________________________________________

Revised 4/2/09 6

a) Has the participant received a diagnosis of:Yes No

Mental retardation OCD Schizophrenia Learning Disabled Autism ADHD FAMILY HISTORY:Are mother and father related by blood? (i.e. cousins, uncles, aunts?) Yes / No

Age Major Illness History of neurological/psychiatric IllnessMother

Father

Brothers

Sisters

Aunts

Uncles

Cousins

Please describe:______________

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. AFRICAN or AFRICAN-AMERICANB. 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 - RUSSIANG. Caucasian, Not Hispanic Origin - POLISH/SLAVIC/EASTERN EUROPEAN COUNTRIESH. Caucasian, Not Hispanic Origin - AUSTRALIANI. Caucasian, Not Hispanic Origin - OTHER

_________________________________________________J. Caucasian, Hispanic Origin - MEXICAN-AMERICANK. Caucasian, Hispanic Origin - USA/CANADAL. Caucasian, Hispanic Origin - SPAIN or SOUTH AMERICAM. Caucasian, Hispanic Origin - MEXICO or CENTRAL AMERICAN. Caucasian, Hispanic Origin - CARIBBEAN (includes Puerto Rico, Cuba, the Dominican Republic, etc.)O. Native American - AMERICAN INDIAN (Tribe:___________________________________________P. Asian/Pacific Rim - JAPANESEQ. Asian/Pacific Rim - CHINESER. 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

8Revised 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 Islamic Other _________________________ Prefer not to say

Father:Education____________________ Current employment______________________Marital status Married/Domestic partners Single Divorced Widowed

Religion Christian Jewish Islamic Other _________________________ Prefer not to say

9Revised 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.    Left Right1. 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

LABORATORY EVALUATIONS AND IMAGING :10

Revised 4/2/09

Please mail the MRIs to:

Elliott Sherr MD, PhD. University of California, San FranciscoSHERR LAB 675 Nelson Rising Lane, Box 3206San Francisco, CA 94158

Evaluation reports from physicians:1) Neurology2) Genetics evaluation3) Developmental Pediatrician4) Ophthalmology evaluation5) Hearing (Audiology)6) Endocrinology7) Orthopedic evaluation8) Psychiatric evaluation9) Current history and Physical by primary care physician

Testing and lab reports:1) IEP [Individualized Education program (the most recent one)]2) Psychological evaluation report 3) IQ tests4) EEG report5) Study of nerves and muscles (nerve conduction studies, electromyography, biopsy results)6) Genetic testing report (e.g. chromosome analysis, FISH, subtelomeric probe analysis, specific genetic testing-

FISH 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

11Revised 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.)

12Revised 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.

13Revised 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.

14Revised 4/2/09