The Center for Brain Development
Clinical Questionnaire
General data and clinical history
First and last name:______________________________ Telephone number: _______________
date of
birth:______________________________ Address:
_
sex: M ‘ F › _____________________________
pregnancy (relevant events) :
_______________________________________________________________
delivery (relevant events): __________________________________________________________________
development steps (age): sitting:_______ walking:_______
first
words:_______ complete
language:_______
education: normal
› aided
› impossible
›
Referred by: ______________________________________________________
Family history
Father: name___________________________ place of birth/ethnicity :_______________________
Mother:
name___________________________
place of birth/ethnicity :_______________________
consanguineous parents: yes
› no
› if
yes relationship: ______________
affected sibs: yes
› no
› if
yes, how many:_________
healthy sibs: yes
› no
› if
yes, how many:_________
other affected family members: yes
› no
› if
yes, please attach pedigree
family history of other genetic
disorders: yes
› no ›
if yes, please describe: _______________________________________________________________________
blood for genetic study: yes
› no
›
if yes, please specify on the
pedigree which family members have been blood-sampled
Please note any intra-familial
phenotypic differences or fill out additional questionnaires for each affected
family member
Central Nervous System
breathing abnormalities: yes
› no
›
if yes, please describe: _______________________________________________________________________
ataxia: yes
› no
›
hypotonia: yes
› no
›
tremor: yes
› no
›
mental retardation: yes
› no
›
oculomotor apraxia: yes
› no
›
nystagmus: yes
› no
›
handedness left
› right
›
other (please describe):____________________________________________________________________
_______________________________________________________________________________
Kidney
polyuria: yes
› no
›
enuresis: yes
› no
›
renal ultrasound: date
___________ normal › abnormal
› not
performed ›
if abnormal, please describe
(cysts, cortico-medullar differentiation, kidney longitudinal diameter, hyper
intensity, nephrocalcinosis etc): _______________________________________________________________________
________________________________________________________________________________________
nephronophthisis: yes
› no
›
renal failure: yes
› no
› if
yes, age:_______
serum creatinine:__________ not
evaluated ›
urinary specific gravity: ___________ not
evaluated ›
U Osm max (DDAVP concentration
test):___________ not
performed ›
other (please
describe):____________________________________________________________________
________________________________________________________________________________________
Eyes
roving eye movements: yes
› no
›
fundus oculi: normal
› abnormal
› not
evaluated ›
if abnormal, please describe
(pigmental abnormalities, colobomas etc): _____________________________________
________________________________________________________________________________________
visus reduction: yes
› no
›
if yes, please specify: RE:____/10 LE:____/10
visual evoked potentials (VEP): date
__________ normal › abnormal › absent › not performed ›
if abnormal, specify: amplitude:________ latency:________
electroretinogram (ERG): date
__________ normal › abnormal › absent › not performed ›
if abnormal, please describe: __________________________________________________________________
________________________________________________________________________________________
other (please
describe):____________________________________________________________________
________________________________________________________________________________________
Liver
serum liver enzymes: normal
› abnormal
› not
evaluated ›
if abnormal, please specify: ___________________________________________________________________
liver ultrasound: date ___________ normal
› abnormal
› not
performed ›
if abnormal, please describe
(cysts etc): __________________________________________________________
________________________________________________________________________________________
hepatic fibrosis: yes
› no
›
other (please describe):____________________________________________________________________
________________________________________________________________________________________
Other
features Presence/Absence: Notes:
encephalocele yes
› no
›
meningocele yes
› no
›
hydrocephalus yes
› no
›
polydactyly yes
› no
›
if yes please describe (preaxial, postaxial, mesoaxial etc)
_________________________________________
lingual amartomas: yes
› no
›
cleft lip: yes
› no
›
cleft palate: yes
› no
›
other tumors: yes
› no
›
pituitary abnormality: yes
› no
›
seizures: yes
› no
›
diabetes: yes
› no
›
heart problems: yes
› no
›
if yes, please describe: _______________________________________________________________________
facial dysmorphic features: yes
› no
›
if yes, please describe: _______________________________________________________________________
other (please
describe):____________________________________________________________________
________________________________________________________________________________________
Behavioral Heath
bipolar disorder yes
› no
›
autistic-like behavior (for
children over the developmental age of two only)
1. social interaction
impaired non-verbal communication yes
› no ›
(eye to eye gaze, facial expression,
gestures)
failure to form developmentally
appropriate peer relationships yes
› no ›
lack of spontaneous interest in
sharing with others yes
› no ›
(showing, bringing, pointing)
lack of emotional reciprocity yes
› no ›
2. communication
spoken language delay yes
› no ›
(in the absence attempts to use
gestures or mime to communicate)
inability to initiate or sustain a
conversation (assuming adequate speech) yes
› no ›
stereotyped/repetitive use of
language yes
› no ›
lack of developmentally appropriate
spontaneous,
varied make-believe or imitative
play yes
› no ›
3. repetitive,
stereotyped behavior/interests
preoccupation with
stereotyped/restricted interests, abnormal in intensity or focus yes › no
›
inflexible adherence to routines yes › no ›
stereotyped/repetitive motor
actions (ie hand twisting) yes
› no ›
preoccupation with objects yes
› no ›
Brain MRI
Originals/copy available: yes
› no
› if yes from whom? ____________________
vermis aplasia: total
› partial
› none
›
if partial, please describe: ________________________________________________________________________________________
Dandy-Walker malformation: yes
› no
›
corpus callosum hypoplasia: yes
› no
›
molar tooth sign: yes
› no
›
other malformations posterior
cranial fossa: yes
› no ›
if yes, please describe: _______________________________________________________________________
other (please
describe):____________________________________________________________________
________________________________________________________________________________________
________________________________________________________________________________________
Patient measurements (if appropriate)
________________________________________________________________________________________
________________________________________________________________________________________
Other exams
________________________________________________________________________________________
________________________________________________________________________________________
________________________________________________________________________________________
Comments
and notes
________________________________________________________________________________________
________________________________________________________________________________________
________________________________________________________________________________________
_______________ _____________________
Date Physician/Parent
Signature