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This webpage is currently under construction
For questions and/or updates please e-mail info@humandiseasegenes.com or visit the news page at https://humandiseasegenes.nl/publications-news
Details Parents | |||
First Name | Last Name | ||
City | Country | ||
Details patient | |||
PMID | Patient Identification Number | ||
Age of Last Examination | Country | ||
Gender | |||
Pregnancy, childbirth and neonatal period | |||
At how many weeks of pregnancy was your child born? | Weeks & Days | ||
Birth | |||
What was the birth weight? | |||
Did your child have a low birth weight? | |||
Did your child have a high birth weight? | |||
How was your child’s head circumference at birth? | |||
What was your baby’s Apgar score after 1 minute? | |||
What was your baby’s Apgar score after 5 minutes? | |||
What was your baby’s Apgar score after 10 minutes? | |||
Did your baby require extra oxygen immediately after birth? | |||
Did your baby have jaundice that needed treatment? | |||
In the first three months after the birth, did your baby have problems feeding? | |||
In the first three months after the birth, did your baby feel floppy (hypotonia)? | |||
In the first three months after the birth, did your baby show signs of epilepsy? | |||
Growth | |||
What height is your child at the moment? | |||
How is your child’s head circumference at the moment? | |||
How is your child’s weight at the moment? | |||
Has your child been diagnosed with a growth hormone deficiency? | |||
When was your child’s last growth measurement? (yyyy/mm/dd) | |||
What was your child’s height then? (cm) | |||
What was your child’s weight then? (kg) | |||
What was your child’s head circumference then? (cm) | |||
Height of biological father in cm | |||
Height of biological mother in cm | |||
Development | |||
Is your child showing signs of developmental delays? | |||
If yes: In which areas? | |||
Is there evidence of a cognitive impairment? | |||
Has your child's IQ ever been tested? | |||
If yes: How old was your child when he/she last had an IQ test? | Years & Months | ||
If yes to question in row 67: What was the result of the last IQ test (total IQ)? | |||
Has your child lost any skills that he/she had previously mastered? | |||
How old was your child when he/she rolled over for the first time? | |||
How old was your child when he/she sat unassisted for the first time? | |||
How old was your child when he/she took his/her first steps unassisted? | |||
How old was your child when he/she said his/her first words? | |||
Does your child have urinary incontinence? | |||
Does your child have stool incontinence? | |||
Speech and language | |||
Has your child been diagnosed with delayed speech/language development? | |||
Does your child drool excessively? | |||
Does he/she have an open mouth posture? | |||
Does or did he/she have any abnormal structures in the mouth area? | |||
If yes, which? | |||
Is it possible to communicate verbally with your child? | |||
Does your child speak more than ten words? | |||
Does your child use assisted communication? | |||
Does your child have difficulty using language to communicate his/her needs, wishes or thoughts? | |||
Does your child understand everything that is said to him/her? | |||
Has a speech therapist made a speech diagnosis? | |||
If yes, which? | |||
General day-to-day skills | |||
Can your child bathe or shower? | |||
Can your child dress and undress him/herself? | |||
Can your child go to the bathroom? | |||
Can your child eat independently? | |||
Does your child have difficulty climbing stairs independently? | |||
Does your child have difficulty running? | |||
Can your child read? (yes/no) | |||
If yes: How old was your child when he/she learned to read? | |||
Can your child write? | |||
If yes: How old was your child when he/she learned to write? | |||
Does your child have difficulty walking? | |||
Does your child often bump into things or fall? | |||
Behavior and sleep | |||
Do you find your child's behavior problematic? | |||
Has your child been diagnosed with a mental illness? | |||
If yes, which? | |||
Is your child often anxious? | |||
Is your child very withdrawn? | |||
Is your child easily distracted? | |||
Does your child often fidget and wiggle about? | |||
Is your child's sleep behavior problematic? | |||
Does your child fall asleep easily? | |||
Does your child sleep through the night? | |||
Neurology | |||
Has your child had febrile seizures? | |||
Has your child ever had an epileptic seizure? | |||
If yes: At what age did your child have his/her first epileptic seizure? | Years & Months | ||
If yes: How long ago was his/her last epileptic seizure? | Years & Months | ||
If yes: Roughly how many seizures does your child have per month? | |||
If yes: What kind of seizures does your child have? | |||
Has your child ever had an EEG (brain test)? | |||
Was the result abnormal? | |||
Has your child ever had a brain scan? | |||
If yes: Which examination did he/she have? | |||
Were any brain abnormalities seen? | |||
If yes: What brain abnormalities were seen? | |||
Hearing and vision | |||
Have your child's eyes ever been examined? | |||
Can your child see well? | |||
Does your child wear glasses? | |||
Does your child have any other vision problems? | |||
If yes, please explain | |||
Can your child hear well? | |||
If no: | |||
Does your child have a hearing aid? | |||
Heart defects | |||
Does your child have a heart defect? | |||
If yes: Hole in the septum (ASD) | |||
If yes: Hole in the chambers of the heart (VSD) | |||
Tetralogy of Fallot | |||
Underdeveloped left part of the heart (hypoplastic left heart syndrome) | |||
Problem with one of the heart valves | |||
Arrhythmia | |||
Other, namely... | |||
Lung disease | |||
Does your child have lung disease? | |||
If so, what kind? | |||
Feeding and gastrointestinal problems | |||
Does your child have/has your child ever had problems feeding? | |||
Does your child choke easily? | |||
Does your child have/has your child ever had a feeding tube? | |||
Kidneys and urinary tract | |||
Does your child have kidney problems? | |||
If so, what kind? | |||
Skeleton | |||
Does your child have bone/skeletal problems? | |||
Does your child have a scoliosis? (spine twisted to one side/bend in the spine) | |||
If yes: What treatment is your child having/has your child had for his/her scoliosis? | |||
Does your child have flat feet? | |||
Does your child have a pigeon chest or funnel chest? | |||
Does your child have spinal problems? | |||
Does your child have any other muscle or bone problems? | |||
Skin and teeth | |||
Does your child have eczema? | |||
Does your child have very pale or dark patches on the skin? | |||
Does your child have dental abnormalities? | |||
Does your child have any other skin or dental problems? | |||
Does your child have any allergies or has he/she ever had an allergic reaction? | |||
Hormonal | |||
Has your child been diagnosed with a thyroid problem? | |||
What kind of thyroid problem has been diagnosed? | |||
Has your child been diagnosed with diabetes? | |||
What type of diabetes has been diagnosed? | |||
Has your child ever been diagnosed with high blood pressure? | |||
Age of first period (year) | Years & Months | ||
Immune system | |||
Do you find that your child is often sick? | |||
Does your child get frequent colds? | |||
Has your child had repeated bouts of lung infection? | |||
Does your child often have ear infections? | |||
Does your child often have bladder infections? | |||
Has your child been diagnosed with problems in the immune system? | |||
Other | |||
Has your child undergone any other operations? | |||
Which ones and at what age? | |||
Does your child take medications? | |||
Which ones? | |||
Does your child have any characteristics that you think are important and that have not been covered in this questionnaire? |
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