ABOUT YOUR CHILD

First Name

Last Name

First Name of DDX3X Child

Last Name of DDX3X Child

Child's Date of Birth

Age of Diagnosis

Mailing Address (Line 1)

Mailing Address (Line 2)

City

State

Postal Code

Country

Country Afghanistan Åland Islands Albania Algeria American Samoa Andorra Angola Anguilla Antarctica Antigua and Barbuda Argentina Armenia Aruba Australia Austria Azerbaijan Bahamas Bahrain Bangladesh Barbados Belarus Belgium Belize Benin Bermuda Bhutan Bolivia, Plurinational State of Bonaire, Sint Eustatius and Saba Bosnia and Herzegovina Botswana Bouvet Island Brazil British Indian Ocean Territory Brunei Darussalam 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 Congo, the Democratic Republic of the Cook Islands Costa Rica Côte d'Ivoire Croatia Cuba Curaçao Cyprus Czech Republic Denmark Djibouti Dominica Dominican Republic Ecuador Egypt El Salvador Equatorial Guinea Eritrea Estonia Ethiopia Falkland Islands (Malvinas) Faroe Islands Fiji Finland France French Guiana French Polynesia French Southern Territories Gabon Gambia Georgia Germany Ghana Gibraltar Greece Greenland Grenada Guadeloupe Guam Guatemala Guernsey Guinea Guinea-Bissau Guyana Haiti Heard Island and McDonald Islands Holy See (Vatican City State) Honduras Hong Kong Hungary Iceland India Indonesia Iran, Islamic Republic of Iraq Ireland Isle of Man Israel Italy Jamaica Japan Jersey Jordan Kazakhstan Kenya Kiribati Korea, Democratic People's Republic of Korea, Republic of Kuwait Kyrgyzstan Lao People's Democratic Republic Latvia Lebanon Lesotho Liberia Libya Liechtenstein Lithuania Luxembourg Macao Macedonia, the former Yugoslav Republic of Madagascar Malawi Malaysia Maldives Mali Malta Marshall Islands Martinique Mauritania Mauritius Mayotte Mexico Micronesia, Federated States of Moldova, Republic of Monaco Mongolia Montenegro Montserrat Morocco Mozambique Myanmar Namibia Nauru Nepal Netherlands New Caledonia New Zealand Nicaragua Niger Nigeria Niue Norfolk Island Northern Mariana Islands Norway Oman Pakistan Palau Palestinian Territory, Occupied Panama Papua New Guinea Paraguay Peru Philippines Pitcairn Poland Portugal Puerto Rico Qatar Réunion Romania Russian Federation Rwanda Saint Barthélemy Saint Helena, Ascension and Tristan da Cunha Saint Kitts and Nevis Saint Lucia Saint Martin (French part) Saint Pierre and Miquelon Saint Vincent and the Grenadines Samoa San Marino Sao Tome and Principe Saudi Arabia Senegal Serbia Seychelles Sierra Leone Singapore Sint Maarten (Dutch part) Slovakia Slovenia Solomon Islands Somalia South Africa South Georgia and the South Sandwich Islands South Sudan Spain Sri Lanka Sudan Suriname Svalbard and Jan Mayen Swaziland Sweden Switzerland Syrian Arab Republic Taiwan, Province of China Tajikistan Tanzania, United Republic of Thailand Timor-Leste Togo Tokelau Tonga Trinidad and Tobago Tunisia Turkey Turkmenistan Turks and Caicos Islands Tuvalu Uganda Ukraine United Arab Emirates United Kingdom United States United States Minor Outlying Islands Uruguay Uzbekistan Vanuatu Venezuela, Bolivarian Republic of Viet Nam Virgin Islands, British Virgin Islands, U.S. Wallis and Futuna Western Sahara Yemen Zambia Zimbabwe

Phone

Email

What is your contact preference?
Phone
Email

When is best to contact you?
Morning
Afternoon
Evening

Child's Gender
Female
Male

Ethnicity of DDX3X Child

Child Ethnicity Mixed Race Arctic (Siberian, Eskimo) Caucasian (European) Caucasian (Indian) Caucasian (Middle East) Caucasian (North African, Other) Indigenous Australian Native American North East Asian (Mongol, Tibetan, Korean Japanese, etc) Pacific (Polynesian, Micronesian, etc) South East Asian (Chinese, Thai, Malay, Filipino, etc) West African, Bushmen, Ethiopian Other Race

What is the specific genetic variant? e.g. p.Glu196Gly

What features of the DDX3X syndrome does your child have?

Low Weight

Low muscle tone

Seizures or Epilepsy

Does your child regularly take any anticonvulsant medicines?

Developmental Delay / Intellectual Disability

has your child seen a developmental pediatrician or neurodevelopmental psychologist to determine learning strengths and challenges?

Small Head Size

Movement Disorders

Irregular, wide-based gait

Proprioceptive difficulty

Jerky movements

Other

Behavior Problems

OCD

sensory integration disorder

self-injurious behavior

high tolerance for pain

little regard for danger

autistic features

anxiety

Other

Abnormal findings on an MRI of the brain

hypoplasia of the corpus callosum

cortical malformations

enlarged ventricles

I don’t know which specific type

Skin Abnormalities

elastic skin

doughy skin

dark or light birthmarks

other

Increased flexibility/ loose joints, or double-jointed

Hearing Loss

conductive hearing loss

sensorineural hearing loss

other

Vision problems

nearsighted

farsighted

astigmatism

esotropia aka "lazy eye"

other vision problems

Curvature of the spine

Prone to recurrent ear infections

Gastrointestinal problems

Pubertal changes before 10 years of age

At what age did your child undergo puberty?

Any assistive devices or therapeutic interventions you found particularly helpful for your child? If so, how did it help your child?

Anything you would like to add regarding your child with DDX3X?

Are any test results or patient samples available for researchers?

MRI results Yes No No, and not interested No, but willing to

Neurodevelopmental / IQ testing Yes No No, and not interested No, but willing to

Blood samples Yes No No, and not interested No, but willing to

Blood samples (Parents) Yes No No, and not interested No, but willing to

Skin biopsy Yes No No, and not interested No, but willing to

Skin biopsy (Parents) Yes No No, and not interested No, but willing to

Would you be interested in enrolling your child in a Natural History study of DDX3X?

This is a study that will follow patients with the condition over time to better understand the many features and changes that can take place over time, and can help researchers understand which features can be targeted for improvement with a therapy

Yes No

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