KANSL1

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For more information about the natural history study please read the following documents:
General information about the study: patient information folder

Getting started with our portal: patient portal manual

Fill in this form to request acces to the natural history study portal:

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Last Name *

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Remarks

Details Parents
Email
First Name		Last Name
City		Country
Details patient
PMID		Patient Identification Number
Age of Last Examination		Country
Gender
Genetic Variant
Do you know which genetic variant was found with the genetic test of the patient?
Please write the genetic code here (examples in help text)
Was the genetic variant of the patient also found in one of the (biological) parents?
Pregnancy, childbirth and neonatal period
At how many weeks of pregnancy was the patient born?		Weeks & Days
Birth
What was the birth weight? (grams)
Did the patient have a low birth weight?
Did the patient have a high birth weight?
How was the patient’s head circumference at birth?
Are the Apgar scores of the patient after birth known to you?
What was the patient's Apgar score after 1 minute?
What was the patient's Apgar score after 5 minutes?
What was the patient's Apgar score after 10 minutes?
Did the patient require extra oxygen immediately after birth?
Did the patient have jaundice that needed treatment after birth?
In the first three months after the birth, did the patient have problems feeding?
In the first three months after the birth, did the patient feel floppy (hypotonia)?
In the first three months after the birth, did the patient show signs of epilepsy?
Growth
What height is the patient at the moment?
How is the patient’s head circumference at the moment?
How is the patient’s weight at the moment?
Has the patient been diagnosed with a growth hormone deficiency?
When was the patient’s last growth measurement? (yyyy/mm/dd)
What was the patient’s height then? (cm)
What was the patient’s weight then? (kg)
What was the patient’s head circumference then? (cm)
Is the hight of the biological father known?
Height of biological father in cm
Is the hight of the biological mother known?
Height of biological mother in cm
Development
Is the patient showing signs of developmental delays?
In which areas?
Is there evidence of a cognitive impairment (intellectual disability)?
Has the patient's IQ ever been tested?
How old was the patient when he/she last had an IQ test?		Years & Months
What was the result of the last IQ test (total IQ)?
Did/does the patient attend special needs education?
In case of regular schooling: did the patient have learning difficulties at school?
Has the patient lost any skills that he/she had previously mastered?
How old was the patient when he/she rolled over for the first time?
Can the patient sit unassisted?
How old was the patient when he/she sat unassisted for the first time?		Years & Months
Does the patient walk independently or has he/she ever done so?
How old was the patient when he/she took his/her first steps unassisted?		Years & Months
Does the patient speak or has he/she ever done so?
How old was the patient when he/she said his/her first words?		Years & Months
Does the patient have urinary incontinence during the day?
Does the patient have urinary incontinence during the night?
Does the patient have stool incontinence?
Speech and language
Has the patient been diagnosed with delayed speech/language development?
Does the patient drool excessively?
Does he/she have an open mouth posture?
Does or did he/she have any abnormal structures in the mouth area?
Which?
Is it possible to communicate verbally with the patient?
Does the patient speak more than ten words?
Does the patient use assisted communication?
Does the patient have difficulty using language to communicate his/her needs, wishes or thoughts?
Does the patient understand everything that is said to him/her?
Has a speech therapist made a speech diagnosis?
Which?
General day-to-day skills
Can the patient bathe or shower?
Can the patient dress and undress him/herself?
Can the patient go to the bathroom?
Can the patient eat independently?
Does the patient have difficulty climbing stairs independently?
Does the patient have difficulty running?
Can the patient read?
How old was the patient when he/she learned to read?		Years & Months
Can the patient write?
How old was the patient when he/she learned to write?		Years & Months
Does the patient have difficulty walking?
Does the patient often bump into things or fall?
Behavior and sleep
Do you find the patient's behavior problematic?
Has the patient been diagnosed with a mental illness?
Which?
Is the patient often anxious?
Is the patient very withdrawn (impaired in social interaction)?
Is the patient easily distracted?
Does the patient often fidget and wiggle about (restless behavior)?
Does the patient often have a problem controling impulses (show impulsive behavior)?
Can the patient easily become obsessed with things or actions?
Does the patient show violent or aggressive behavior towards others?
Does the patient show violent or aggressive behavior towards him-/herself?
Does the patient have a high pain tolerance?
Is the patient's sleep behavior problematic?
Does the patient fall asleep easily?
Does the patient sleep through the night?
Does the patient have sleep apnea?
Neurology
Does the patient have febrile seizures?
Has the patient ever had an EEG (brain test)?
Was the result abnormal?
Has the patient ever had an epileptic seizure?
At what age did the patient have his/her first epileptic seizure?		Years & Months
How long ago was his/her last epileptic seizure?		Years & Months
Roughly how many seizures does the patient have per month?
What kind of seizures does the patient have?
Has the patient ever had a brain scan?
Which examination did he/she have?
Were any brain abnormalities seen?
What brain abnormalities were seen?
Does the patient suffer from migraine attacks?
Does the patient have low muscle tone (hypotonia)?
Does the patient have high muscle tone (hypertonia?)
Hearing and vision
Have the patient's eyes ever been examined?
Can the patient see well?
Does the patient wear glasses?
Does the patient have any other vision problems?
What vision problems were seen?
Can the patient hear well?
What type of hearing loss does the patient have?
Does the patient have a hearing aid?
One side: What type of hearing aid?
Both sides: what type of hearing aids?
Has the patient been diagnosed with abnormalities of the outside or inner ear?
What ear abnormalities were seen?
Heart defects
Does the patient have a heart defect?
If yes: what kind of heart defects were seen?
Lung disease
Does the patient have lung disease?
If so, what kind?
Feeding and gastrointestinal problems
Does the patient have feeding problems?
Could you describe these feeding problems?
Does the patient choke easily?
Does the patient have a feeding tube?
Does the patient regularly have reflux?
Does the patient regularly have constipation?
Does the patient regularly have diarrhea?
Does the patient have a diagnosis of cyclic (episodic) vomiting?
Kidneys and urinary tract
Does the patient have kidney problems?
If so, what kind?
Skeleton
Does the patient have bone/skeletal problems?
Does the patient have spinal problems?
What treatment is the patient having/has the patient had for his/her spinal problems?
Does the patient have flat feet?
Does the patient have a pigeon chest or funnel chest?
Does the patient have any other muscle or bone problems?
Skin and teeth
Does the patient have eczema?
Does the patient have very pale or dark patches on the skin?
Does the patient have any other skin abnormalities
What kind of skin abnormalities were seen?
Does the patient have dental abnormalities?
What kind of dental abnormalities were seen?
Does the patient have any allergies or has he/she ever had an allergic reaction?
Please write down the names of the allergies.
Hormonal
Does the patient have a period (menstrual cycle)
Age of first period(menstrual cycle)		Years & Months
Has the patient been diagnosed with a thyroid problem?
What kind of thyroid problem has been diagnosed?
Has the patient been diagnosed with diabetes?
What type of diabetes has been diagnosed?
Has the patient ever been diagnosed with high blood pressure?
Immune system
Do you find that the patient is often sick (more frequent than peers)?
Does the patient get frequent colds?
Has the patient had repeated bouts of lung infection?
Does the patient often have ear infections?
Does the patient often have bladder infections?
Has the patient been diagnosed with problems in the immune system?
Please explain
Other
Has the patient undergone any operations?
Which ones and at what age?
Does the patient take medications?
Which ones?
Does the patient visit physicians or paramedics (e.g. fysiotherapist, speech therapist)?
If yes, which?
Does the patient have any characteristics that you think are important and that have not been covered in this questionnaire?
Daily living skills
Dresses oneself completely, including footwear
Ties shoe laces
(Almost) always takes initiative to dress
Undresses oneself and changes into night attire
Washing hands and face properly without supervision
Brushes teeth with appropriate use of toothpaste
Uses adequate toilet hygiene
Makes up the bed with new sheets and pillowcases
Able to prepare and eat breakfast independently
Able to serve themselves a drink (without being supervised)
Able to do basic cooking (like preparing a simple hot meal), without supervision
Uses a knife properly at dinner, including cutting meat (without bone) by themselves
Sets the table properly (plates, cutlery, napkins, food, etc.)
Cleans up after dinner, empties plates and prepares for washing-up
Language use
Is able to collect items without using a list (for example, from the neighbors), when one or two items are requested
Uses compound sentences when speaking, combining more events or remarks in one sentence
Pronunciation is generally correct and clear
Speech and language can be understood by most other people
Reports full name and address
Repeats full sentences expressed by others
Uses full sentences to express own wishes
When asked a question, he/she answers with complete sentences
Understands a simple command (e.g., ‘get your coat’)
Asks for help when in a difficult situation
Speech and language is understood only by close caregivers
Tells a story while being aware of a situation (e.g., in a picture, indicating what has happened, or what is going to happen)
Task orientation
Initiates clearing up (almost) always
Finishes tasks without being reminded (almost) always
Can maintain attention at a task lasting more than 15 min, without needing to be encouraged in the meantime
(Almost) always tidies up toys and other things, without being told to do so
(Almost) always hangs clothes, without being told to do so
Social orientation
(Almost) always shares toys and tools with friends or family when asked to
(Almost) always asks permission to use items belonging to others
Usually plays by himself/herself
Often, or (almost) always offers to help others, without being told to do so, when others need help
Practical skills
Able to spend 30 min alone at home
Able to spend a few hours alone at home
Able to use a key to enter a house, when nobody else is home
Needs care 24/7
Able to be in time for a standard appointment (e.g., ‘dinner at 6 o’clock’)
Able to use (without assistance) the computer and television
Answers the phone properly
Phones other people independently
Able to write short memos or emails (using several words)
Able to write notes and emails with several phrases
Able to read and understand short texts in magazines or books
Able to add numbers up to 10
Realizes that 8 is higher than 4
Knows the value of money (notes and coins)
Able to pay with cash in a shop
Able to pay with a debit card in a shop
Practical motor skills
Able to swim
Able to use a normal bike
Able to walk along the street near the home without supervision
Able to cycle in traffic, with supervision
Able to walk along a familiar route, without supervision
Able to cycle along a familiar route, without supervision
Able to find the way to a familiar address (club or friend), without supervision
Able to ride a bus (public transport) independently to a familiar place such as school