THE SPATA FOUNDATION PATIENT DATABASE
This form is totally voluntary, but gathering this information will help in future research of SPATA5 and SPATA5L1. If you have more than one child affected, please fill out a separate form for each child. You can save this form at anytime (at the bottom of the form) and come back to it.
Patient info
PATIENT refers to the person affected by SPATA5 and/or SPATA5L1.
PATIENT Full Name
First Name
Last Name
Date of Birth
-
Month
-
Day
Year
Date
Sex
Male
Female
Date of Death, if applicable
-
Month
-
Day
Year
Date
Cause of death, if applicable
Address
Street Address
Street Address Line 2
City
State / Province
Postal / Zip Code
Please Select
Afghanistan
Albania
Algeria
American Samoa
Andorra
Angola
Anguilla
Antigua and Barbuda
Argentina
Armenia
Aruba
Australia
Austria
Azerbaijan
The Bahamas
Bahrain
Bangladesh
Barbados
Belarus
Belgium
Belize
Benin
Bermuda
Bhutan
Bolivia
Bosnia and Herzegovina
Botswana
Brazil
Brunei
Bulgaria
Burkina Faso
Burundi
Cambodia
Cameroon
Canada
Cape Verde
Cayman Islands
Central African Republic
Chad
Chile
China
Christmas Island
Cocos (Keeling) Islands
Colombia
Comoros
Congo
Cook Islands
Costa Rica
Cote d'Ivoire
Croatia
Cuba
Curaçao
Cyprus
Czech Republic
Democratic Republic of the Congo
Denmark
Djibouti
Dominica
Dominican Republic
Ecuador
Egypt
El Salvador
Equatorial Guinea
Eritrea
Estonia
Ethiopia
Falkland Islands
Faroe Islands
Fiji
Finland
France
French Polynesia
Gabon
The Gambia
Georgia
Germany
Ghana
Gibraltar
Greece
Greenland
Grenada
Guadeloupe
Guam
Guatemala
Guernsey
Guinea
Guinea-Bissau
Guyana
Haiti
Honduras
Hong Kong
Hungary
Iceland
India
Indonesia
Iran
Iraq
Ireland
Israel
Italy
Jamaica
Japan
Jersey
Jordan
Kazakhstan
Kenya
Kiribati
North Korea
South Korea
Kosovo
Kuwait
Kyrgyzstan
Laos
Latvia
Lebanon
Lesotho
Liberia
Libya
Liechtenstein
Lithuania
Luxembourg
Macau
Macedonia
Madagascar
Malawi
Malaysia
Maldives
Mali
Malta
Marshall Islands
Martinique
Mauritania
Mauritius
Mayotte
Mexico
Micronesia
Moldova
Monaco
Mongolia
Montenegro
Montserrat
Morocco
Mozambique
Myanmar
Nagorno-Karabakh
Namibia
Nauru
Nepal
Netherlands
Netherlands Antilles
New Caledonia
New Zealand
Nicaragua
Niger
Nigeria
Niue
Norfolk Island
Turkish Republic of Northern Cyprus
Northern Mariana
Norway
Oman
Pakistan
Palau
Palestine
Panama
Papua New Guinea
Paraguay
Peru
Philippines
Pitcairn Islands
Poland
Portugal
Puerto Rico
Qatar
Republic of the Congo
Romania
Russia
Rwanda
Saint Barthelemy
Saint Helena
Saint Kitts and Nevis
Saint Lucia
Saint Martin
Saint Pierre and Miquelon
Saint Vincent and the Grenadines
Samoa
San Marino
Sao Tome and Principe
Saudi Arabia
Senegal
Serbia
Seychelles
Sierra Leone
Singapore
Slovakia
Slovenia
Solomon Islands
Somalia
Somaliland
South Africa
South Ossetia
South Sudan
Spain
Sri Lanka
Sudan
Suriname
Svalbard
eSwatini
Sweden
Switzerland
Syria
Taiwan
Tajikistan
Tanzania
Thailand
Timor-Leste
Togo
Tokelau
Tonga
Transnistria Pridnestrovie
Trinidad and Tobago
Tristan da Cunha
Tunisia
Turkey
Turkmenistan
Turks and Caicos Islands
Tuvalu
Uganda
Ukraine
United Arab Emirates
United Kingdom
United States
Uruguay
Uzbekistan
Vanuatu
Vatican City
Venezuela
Vietnam
British Virgin Islands
Isle of Man
US Virgin Islands
Wallis and Futuna
Western Sahara
Yemen
Zambia
Zimbabwe
Other
Country
Does the patient have an affected sibling?
Yes
No
Unknown
What is the patient's ancestry, if unknown please leave blank?
Example: Iraqi, Ashkenazi Jew, American of European Descent
Feel free to upload an image of your lovely SPATA warrior!
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Can The SPATA Foundation use this image?
I do not allow The SPATA Foundation to use this image.
Yes, I allow The SPATA Foundation to use the image on the website, social media, other marketing materials, and share with researchers.
caregiver info
CAREGIVER refers to the person responsible for the patient.
CAREGIVER Full Name
*
First Name
Last Name
Are you ok with be contacted by other SPATA5/SPATA5L1 families?
Yes
No
What contact method do you prefer?
Text
Call
Email
Other
E-mail
example@example.com
Phone Number
-
Country Code
-
Area Code
Phone Number
SPATA5/SPATA5L1 INFO
The following questions are in regards to how the patient is affected by SPATA5 and/or SPATA5L1. Please answer to the best of your ability & know that at the end of the form there will be an open space to provide any additional details.
Does the patient have variants/deletions/duplications of:
SPATA5
SPATA5L1
Both SPATA5 and SPATA5L1
Provide SPATA5 variants here, if not relevant or unknown leave blank
Example: c.1676delC and c.2087 G>T
Provide SPATA5L1 variants here, if not relevant or unknown leave blank
Example: c.1676delC and c.2087 G>T
At what age was the patient officially diagnosed with SPATA5/SPATA5L1? If unknown, please leave blank.
At what age did the patient first present with symptoms? If unknown, please leave blank.
SYMPTOMS
The following questions are in regards to how the patient is affected by SPATA5 and/or SPATA5L1. Please answer to the best of your ability. You will first be asked a yes or no question if the patient experiences this symptom, then will be asked to give details. At the end of the form there will be an open space to provide any additional details.
Does the patient have Microcephaly?
Yes
No
Unknown
Please provide any details relevant to the patient's Microcephaly
Example: Congenital Microcephaly
Does the patient have Hearing Impairment?
Yes, Bilateral SNHL
No
Unknown
Yes, Other
If the patient has hearing impairment, what level(s)? You may select multiple.
Mild
Moderate
Moderately Severe
Severe
Profound
Is the patient aided for hearing impairment?
No
Hearing Aids
Cochlear Implant(s)
Please provide any details relevant to the patient's Hearing Impairment
Example: Progressive, aided at age 2 implants age 4
Does the patient have Vision Impairment?
Yes
No
Unknown
Please provide any details relevant to the patient's Vision Impairment
Example: Strabismus, Suspected CVI
Does the patient have Epilepsy?
Yes
No
Unknown
If the patient has epilepsy, is it controlled?
Yes
No
Unknown
What are the patient's current anti-seizure interventions?
Brivaracetam/Briviact
Banzel/Rufinamide
Epidiolex/Other CBD or CBD+THC
Carbamazepine/Carbamazepine
Xcopri/Cenobamate
Clobazam/Onfi
Clonazepam/Klonopin
Diazepam (Valtoco) Nasal
Diazepam (Diastat) Rectal
Depakote/Divalproex Sodium
Eslicarbazepine Acetate/Aptiom
Ethosuximide/Zarontin
Felbamate/Felbatol
Fenfluramine/Fintepla
Gabapentin/Neurontin
Lacosamide/Vimpat
Lamotrigine/Lamictal
Levetiracetam/Keppra
Lorazepam/Ativan
Midazolam Nasal/Nayzilam
Oxcarbazepine/Trileptal
Perampanel/Fycompa
Phenobarbital/Luminal
Phenytoin/Dilantin
Pregabalin/Lyrica
Primidone/Mysoline
Stiripentol/Diacomit
Tiagabine Hydrochloride/Gabitril
Topiramate/Topamaz
Valproic Acid
Vigabatrin/Sabril
Zonisamide/Zonegran
Keto Diet
VNS
Other
Please provide any details relevant to the patient's Epilepsy
Example: Absence seizures progressed into tonic-clonics, VNS implanted at age 18
Does the patient have Spasticity?
Yes
No
Unknown
Does the patient have Dystonia/Hypotonia?
Yes
No
Unknown
Please provide any details relevant to the patient's Spasticity and/or Dystonia/Hypotonia
Example: Spastic Quadriplegia
Does the patient have Developmental Delay/Intellectual Disability?
Yes
No
Unknown
At what age did the patient sit unassisted? If patient can not sit unassisted, please note.
At what age did the patient walk? If patient can not walk, please note.
What is the patient's verbal skills?
Non Verbal
Delayed
Typical
Unknown
Please provide any details relevant to the patient's Developmental Delay and/or Intellectual Disability
Example: Walks with gait trainer
Does the patient have an abnormal MRI?
Yes
No
Unknown
Please provide any details relevant to the patient's abnormal MRI
Example: Thin Corpus Callosum at age 3
Does the patient have gastrointestinal issues?
Yes
No
Unknown
Please provide any details relevant to the patient's Gastrointestinal Issues/Eating Habits
Example: Gtube, GERD, CMPA
Does the patient have Immunodeficiency?
Yes
No
Not Tested/Unknown
Please provide any details relevant to the patient's Immunodeficiency
Does the patient have thrombocytopenia?
Yes
No
Unknown
Please provide any details relevant to the patient's Thrombocytopenia
Example: Chronic
Are there any other details relevant to the patient's health/condition/development you'd like to share?
Do you agree to let The SPATA Foundation use the data you've provided to support other SPATA families and research? This may include, but is not limited to, others affected by SPATA5/SPATA5L1 to access the information for education, doctors to access information for research purposes.
Yes, I agree
No, I do not agree
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