What kind of questions can I expect in the questionnaire?
Here, we provide you with some information about the questionnaire. As previously explained, the full questionnaire can only be accessed after you have registered yourself/your child and received an account from us.
The questionnaire is divided in three separate sections, with each section subdivided into several “chapters”. You can easily navigate between these chapters if you want to go back and forth between them.
At the beginning of each section, you will be asked the gender and date of birth of your child. This allows us to automatically adjust some questions to the age or gender of your child.
The questionnaire automatically stores all answers entered. You can quit at any time and continue later. More information on how to complete the questionnaire is given on the questionnaire section of the website.
A. Pregnancy, childbirth and the postnatal period
You will be asked about the pregnancy, the birth and the first few days after birth.
B. Physical aspects: characteristics of the head and face, trunk, limbs and skin
You will be asked about your child’s skull and the shape of your child’s head, about facial characteristics, hair and skin, the trunk and the limbs.
C. Growth, feeding and digestion
You will be asked about your child’s growth (weight, height and head circumference), feeding, gastrointestinal problems and defecation.
D. Airways, breathing problems and the heart
You will be asked about your child’s airways, breathing problems, and about the heart and the blood vessels.
E. Kidneys and genitals
You will be asked about your child’s kidneys, urination and genitals
F. Blood, hormones and immune system
You will be asked about blood, the immune system, hormones and metabolic disorders.
You will be asked about your child’s vision, hearing, balance, ability to smell, pain sensation and sensory processing.
H. Brain, epilepsy and neurology
You will be asked about the brain, nerves and muscles, and about epilepsy and other neurologic problems.
You will be asked about your child’s general development, gross and fine motor skills, communication and language development, the results of developmental testing, toilet training and, if applicable, adult functioning level.
You will be asked about your child’s behaviour and sleep.
You will be (briefly) asked about the family history, specifically about family members with the same chromosome abnormality or medical problems as your child.