30
Jan
2018

Pitt Hopkins Questionairre

Last modified by Otto Mak on 2018/01/30 16:58
30
Jan
2018

Pitt Hopkins Questionairre

Last modified by Otto Mak on 2018/01/30 16:58

Pitt Hopkins_English Version

Dear parents,
Thank you so much for taking time to participate in this survey. Your information will be very useful, not only to us but also to all other families around the world. It will become a rich source of information: this way we will know what is really characteristic and common, and what problems are common, and how people handle them. At the last page of this questionnaire you will see an overview of most of your answers, which you can print.
You are now looking at the English version of this questionnaire, the first version there is. Eventually this questionnaire will be available in several languages to obtain information from families from different countries. You can be assured no information of an individual child will be passed on to someone else. Only general information that can be obtained from the total number of questionnaires will be used to inform other families and caregivers. 

Filling out this questionnaire will take about one - two hours, but this can vary a lot. Important: you don't need to fill out this questionnaire all at once.
By clicking at this link in your email, you will be able to return to the last page you filled completely, and continue. You can continue on any computer, and it's not necessary to enable cookies on your computer. Every page you complete is directly send to us. On the last page, you can see a list of (most of) your answers, which you can print.
In the future, there will be a second questionnaire, which focuses on the behavior(al problems)of you child.
If you have any questions or comments, you can contact us by emailing pitthopkins@amc.uva.nl

Best regards
John van Heukelingen, Chair Dutch PittHopkins Family Support Group
Also on behalf of Melanie Baas, Researcher
Raoul Hennekam MD PhD Professor of Pediatrics and Clinical Genetics University of Amsterdam and University College London

General information

  1. What is the date you started to fill out this questionnaire?
  2. What country do you live in?
  3. What is the gender of your child?
  4. What is the date of birth of your child?
  5. What is the current weight of your child? (in kilograms)
  6. What is the current height of your child? (in centimetres)

Diagnosis

We would like to know your personal story about the road to diagnosis and what diagnosis there is(or isn't) at this
moment. Some questions might be difficult to answer, but you can Always answer 'i am not sure'.

  1. How old was your child when you contacted a doctor because you suspected things were different? (years+months)
  2. What was the main reason to contact a doctor at that time?
    1. first reason
    2. second reason
    3. third reason
    4. fourth reason
    5. other
      1. namely
  3. When was the diagnosis made?
    1. Not officially diagnosed yet
    2. Diagnosis was made at age: (age of your child, in years+months):
  4. Who made/told the diagnosis?
    1. Geneticist
    2. Pediatrician
    3. Other
      1. namely:
  5. Was the diagnosis confirmed by other studies(tests)?
    1. I am not sure
    2. No
    3. Yes, by chromosome studies
    4. Yes, by DNA studies
    5. Other
      1. namely:
  6. In our case, Pitt Hopkins is caused by...
    1. TCF deletion (most common)
    2. TCF mutation
    3. CNTNAP2 (rare)
    4. NRXN1 (rare)
    5. I am not sure
    6. Still unknown
    7. Other
      1. (please specify)
  7. Can you briefly describe the diagnostic process your child went through?

About your pregnancy

On this page, we will ask you some general information about your (or your wife’s) pregnancy. You might not remember everything in detail, but answer as well as you remember.
There is no clue whatsoever of teratogenic influence in pitthopkins!
Still, we would be pleased to be informed about your pregnancy

  1. What was the duration of your pregnancy? (Weeks + days) 
  2. Did you have high blood pressure during your pregnancy? (No, Not sure, Yes)
  3. Were you using a saltfree diet during (part of) pregnancy? (No, Not sure, Yes)
  4. Did you develop diabetes during your pregnancy? (No, Not sure, Yes)
    1. If yes: Did you use oral medication? Insuline? Please list below:
  5. Did you have other diseases during pregnancy? (No, Not sure, Yes)
    1. If yes, please list below:
  6. Did you use medication during pregnancy? (No, Not sure, Yes)
    1. If yes, please list below
  7. Did you use any alcohol during pregnancy? (No, Not sure, Yes)
    1. If yes, please indicate how much
  8. Did you smoke during pregnancy? (No, Not sure, Yes)
    1. If yes, please indicate how much
  9. Did you use any drugs during pregnancy? (No, Not sure, Yes)
    1. If yes, please indicate what drugs and the frequency
  10. Is one of the following procedures carried out during the pregnancy?
    1. Chorionic villus sampling
    2. Amniocentesis
    3. None of these procedures
      1. If any of above, what was the reason to carry out this procedure?
  11. If you want to make any other comments about your pregnancy, please list below:

The newborn

We would like to know something about your child when he/she was a newborn.

  1. Weight at birth:
    1. Not sure, In grams:
  2. Length at birth:
    1. Not sure, In centimeters:
  3. Head circumference at birth
    1. Not sure, In centimeters:
  4. APGAR score:
    1. After 1 minute not sure, 1, 2, 3, 4, 5, 6, 7, 8, 9, 10
    2. After 5 minutes not sure, 1, 2, 3, 4, 5, 6, 7, 8, 9, 10
  5. If you have any other comments about the delivery of your child, please write them
    here:

Development

On this page, we will ask you if your child reached certain developmental milestones. It is very important information AT WHAT AGE certain milestones are reached by your child. If appropriate, please write down the age of your child.
If you have any specific remarks regarding a milestone you can write them down there as well.

Is your child...
  1. Laughing? (No, Not sure, Yes)
    1. If not sure/yes, please tell us the age (years+months) and if you want to, some characteristics:
  2. Making noises? (No, Not sure, Yes)
    1. If not sure/yes, please tell us the age (years+months) and if you want to, some characteristics:
  3. Keeping head up? (No, Not sure, Yes)
    1. If not sure/yes, please tell us the age (years+months) and if you want to, some characteristics:
  4. Grasping objects? (No, Not sure, Yes)
    1. If not sure/yes, please tell us the age (years+months) and if you want to, some characteristics:
  5. Turning from back to belly? (No, Not sure, Yes)
    1. If not sure/yes, please tell us the age (years+months) and if you want to, some characteristics:
  6. Sitting unaided? (No, Not sure, Yes)
    1. If not sure/yes, please tell us the age (years+months) and if you want to, some characteristics:
  7. Crawling? (No, Not sure, Yes)
    1. If not sure/yes, please tell us the age (years+months) and if you want to, some characteristics:
  8. Standing unaided? (No, Not sure, Yes)
    1. If not sure/yes, please tell us the age (years+months) and if you want to, some characteristics:
  9. Walking with aid? (No, Not sure, Yes)
    1. If not sure/yes, please tell us the age (years+months) and if you want to, some characteristics:
  10. Walking unaided? (No, Not sure, Yes)
    1. If not sure/yes, please tell us the age (years+months) and if you want to, some characteristics:
  11. Eating with aid? (for example: after offering spoon) (No, Not sure, Yes)
    1. If not sure/yes, please tell us the age (years+months) and if you want to, some characteristics:
  12. Eating unaided? (No, Not sure, Yes)
    1. If not sure/yes, please tell us the age (years+months) and if you want to, some characteristics:
  13. Dressing unaided? (No, Not sure, Yes)
    1. If not sure/yes, please tell us the age (years+months) and if you want to, some characteristics:
  14. Speaking SINGLE WORDS? (No, Not sure, Yes)
    1. If not sure/yes, please tell us the age (years+months) and if you want to, some characteristics:
  15. Speaking WHOLE SENTENCES? (No, Not sure, Yes)
    1. If not sure/yes, please tell us the age (years+months) and if you want to, some characteristics:

Feeding

  1. Does/did your child have feeding problems DURING BREASTFEEDING/BOTTLE FEEDING? (No,Not sure,Yes-previously,
    Yes-currently)
    1. If not sure/yes, please tell us the age (years+months) and if you want to, some characteristics:
  2. Does/did your child have feeding problems with DRINKING?(No,Not sure,Yes-previously,
    Yes-currently)
    1. If not sure/yes, please tell us the age (years+months) and if you want to, some characteristics:
  3. Does/did your child have feeding problems with SOLID FOOD? (No,Not sure,Yes-previously,
    Yes-currently)
    1. If not sure/yes, please tell us the age (years+months) and if you want to, some characteristics:
  4. Did/does your child show specific behavior difficulties during feeding (for example food refusal, aversion to specific food, expulsion, gagging etc) : (No,Not sure,Yes-previously,
    Yes-currently)
    1. If not sure/yes, please tell us the age (years+months) and if you want to, some characteristics:

Toilet habits

  1. Is your child potty trained regarding to poo?
    1. No, uses diaper
    2. Yes, with aid
    3. Yes, without aid
      1. If 'yes', please tell us the age (years+months) and if you want to, some characteristics:
  2. Is your child potty trained regarding to urine?
    1. No, uses diaper
    2. Yes, with aid
    3. Yes, without aid
      1. If 'yes', please tell us the age (years+months) and if you want to, some characteristics:
  3. If your child is having a menstrual period, how do you take care of her hygiene?
    1. Inapplicable (boy / too young / no menses yet)
    2. Yes she is.
      1. (Please tell us how you take care, and at what age she had her first period)

Sleeping

  1. What is the normal sleeping pattern of your child?
    1. Only at night
    2. Besides during the night, also during the day
    3. No long periodes of sleep in a row
    4. Other
      1. Please specify your answer
  2. Please specify the mean amount of hours your child sleeps per 24 hours:
  3. Does your child have troubles falling asleep?
    1. No
    2. Not sure
    3. Yes, previously
    4. Yes, currently
      1. If 'Yes', please specify the age the problem started, and the characteristics of the problem:
  4. Does you child have troubles sleeping whole night through?
    1. No
    2. Not sure
    3. Yes, previously
    4. Yes, currently
      1. If 'Yes', please specify the age the problem started, and the characteristics of the problem:
  5. Is your child often sleepy at daytime?
    1. No
    2. Not sure
    3. Yes, previously
    4. Yes, currently
      1. If 'Yes', please specify the age the problem started, and the characteristics of the problem:
  6. Does your child have night terrors?
    1. No
    2. Not sure
    3. Yes, previously
    4. Yes, currently
      1. If 'Yes', please specify the age the problem started, and the characteristics of the problem:
  7. Are there other sleep problems?
    1. No
    2. Not sure
    3. Yes, previously
    4. Yes, currently
      1. If 'Yes', please specify the age the problem started, and the characteristics of the problem:

(Unusual) movements

We would like to know if your child shows typical movement. Can you tell us, does your child...

  1. Bite on his/her hands?
    1. No
    2. Not sure
    3. Yes, previously
    4. Yes, currently
      1. If 'Yes', please specify the age it started, and the characteristics of the problem:
  2. Grinds his/her teeth?
    1. No
    2. Not sure
    3. Yes, previously
    4. Yes, currently
      1. If 'Yes', please specify the age it started, and the characteristics of the problem:
  3. Make clapping / flapping / washing movement with hands?
    1. No
    2. Not sure
    3. Yes, previously
    4. Yes, currently
      1. If 'Yes', please specify the age it started, and the characteristics of the problem:
  4. Repeat the same movements (for example: head rolling/shaking/banging, body rocking etcetera)
    1. No
    2. Not sure
    3. Yes, previously
    4. Yes, currently
      1. If 'Yes', please specify the age it started, and the characteristics of the problem:
  5. Have any other unusual/typical movements?
    1. No
    2. Not sure
    3. Yes, previously
    4. Yes, currently
      1. If 'Yes', please specify the age it started, and the characteristics of the problem:

Intellect

  1. Is the intelligence of your child ever tested?
    1. No
    2. Not sure
    3. Yes, but I am not sure about the results
    4. Yes
      1. If not sure/yes, please tell us at what age it was tested, and what the results were
  2. If you want to make any comment about the intellectual development or testing of your child, please write below:

Seizures / epilepsy

  1. Did your child ever have a seizure?
    1. No
    2. Not sure
    3. Yes, it started at age (years+months):
  2. Does your child currently experience seizures?
    1. Yes
    2. Not sure
    3. No, it stopped at (years+months):
  3. What was/is the nature of the seizures?
    1. Not sure
    2. Infantile spasms
    3. Absences
    4. Involuntary motor activity / Tonic-clonic seizures
      1. Other (please specify)
  4. What was / is the frequency of the seizures?
    1. Several times a day
    2. Once a day
    3. Several times a week
    4. Weekly
    5. Less frequently
      1. Other (please specify)
  5. The seizures happen(ed):
    1. Not sure
    2. Only when awake
    3. Only when sleeping
    4. Both
  6. Did your child ever receive medication for the seizures?
    1. No
    2. I am not sure
    3. Yes
      1. If not sure / yes, please specify when you used it, and whether an of the medication was especially helpful:
  7. Does it seem to you the seizures are preceded by specific EVENTS / TRIGGERS?
    1. No
    2. Not sure
    3. Yes
      1. If not sure / yes, please specify
  8. Does it seem to you the seizures are preceded by specific BEHAVIOUR?
    1. No
    2. Not sure
    3. Yes
      1. If not sure / yes, please specify
  9. Does it seem to you the seizures happen at specific times?
    1. No
    2. Not sure
    3. Yes
      1. If not sure / yes, please specify
  10. Does there seem to be an relationship between the seizures and fever?
    1. No
    2. Not sure
    3. Yes
      1. If not sure / yes, please specify
  11. Does there seem to be an relationship between the seizures and breathing pattern?
    1. No
    2. Not sure
    3. Yes
      1. If not sure / yes, please specify
  12. Can you please describe a typical seizure?
  13. Did your child ever have an EEG (Electroencephalography)?
    1. No
    2. Not sure
      1. Yes (please tell us at what age, and if possible the results)
  14. Did your child ever have a brain MRI (Magnetic Resonance Imaging)?
    1. No
    2. Not sure
      1. Yes (please tell us at what age, and if possible the results)

Breathing pattern

  1. Did your child ever have episodes of rapid breathing (hyperventilation)?
    1. No
    2. Not sure
      1. Yes (please tell us at what age it started)
  2. At present, does you child still have rapid breathing episodes?
    1. No
    2. Not sure
      1. No, it stopped at age (years+months):
  3. What was/ is the frequency of the hyperventilation?
    1. Several times a day
    2. Once a day
    3. Several times a week
    4. Weekly
    5. Less frequently
      1. Other (please specify)
  4. A rapid breathing (hyperventilation) episode lasts about..
    1. Seconds
    2. Minutes
    3. Hours
      1. Other (please specify)
  5. The rapid breathing (hyperventilation) happens...
    1. Only when sleeping
    2. Only when awake
    3. Both
  6. Did your child ever receive medication for the rapid breathing (hyperventilation)?
    1. No
    2. Not sure
    3. Yes
      1. If not sure/yes, please specify when you used it, and whether an of the medication was especially helpful)
  7. Does it seem to you the rapid breathing(hyperventilation) is preceded by specific BEHAVIOUR?
    1. No
    2. Not sure
    3. Yes
      1. If not sure/yes, please specify
  8. Does it seem to you the rapid breathing(hyperventilation) is preceded by specific EVENTS/TRIGGERS?
    1. No
    2. Not sure
    3. Yes
      1. If not sure/yes, please specify
  9. Does it seem to you the rapid breathing(hyperventilation) happens at specific times?
    1. No
    2. Not sure
    3. Yes
      1. If not sure/yes, please specify
  10. Can you please describe a typical period of rapid breathing (hyperventilation)?
  11. Can the rapid breathing (hyperventilation) be interrupted?
    1. No
    2. Not sure
    3. Yes
      1. If not sure/yes, please specify by what it can be interrupted
  12. Did the rapid breathing / hyperventilation change with age?
    1. No
    2. Not sure
    3. Yes
      1. If not sure/yes, please tell us how it changed
  13. Does it seem to you your child is disturbed by the hyperventilation?
    1. No
    2. Not sure
    3. Yes
      1. If not sure/yes, please specify
  14. Did your child ever lose consciousness, stopped breathing, or turned blue during/after abnormal breathing?
    1. No
    2. Not sure
    3. Yes
      1. If not sure/yes, please please tell us what happens/happened
  15. Does hyperventilation ever led to your child having a swollen belly?
    1. No
    2. Not sure
    3. Yes
      1. If not sure/yes, you can tell us some details if you want:
  16. Have you ever noticed deliberate changes in the breathing pattern by your child ("playing with breath") ?
    1. No
    2. Not sure
    3. Yes
      1. If not sure/yes, please specify
  17. Do you have any other remarks on the breathing pattern of your child?
    1. No
      1. Yes, namely:

Face

  1. Do you have any comment yourself about characteristics of the face of your child?

Hair

  1. Do you think the hair of your child is abnormal with regard to LOCALIZATION?
    1. No
    2. Not sure
    3. Yes
      1. If not sure/yes, please specify
  2. Do you think the hair of your child is abnormal with regard to AMOUNT or GROWTH?
    1. No
    2. Not sure
    3. Yes
      1. If not sure/yes, please specify
  3. Do you have any other comment about the hair of your child?
    1. No
      1. Yes, namely

Eyes

  1. Is your child wearing glasses?
    1. No
    2. He/she should wear glasses, but does not accept wearing them
    3. Yes
  2. Is your child closesighted?
    1. No
    2. Not sure
    3. Yes.
      1. (Please tell us when you discovered it, and (changes in) the strength of the glasses)
  3. Is your child farsighted?
    1. No
    2. Not sure
    3. Yes.
      1. (Please tell us when you discovered it, and (changes in) the strength of the glasses)
  4. Does your child have horizontal rapid eye movements (repeatedly from left to right and back)?
    1. No
    2. Not sure
    3. Yes.
      1. If not sure/yes, please tell us when it started (age+months):
  5. Does your child have a squint (/is crosseyed)?
    1. No
    2. Not sure
    3. Yes.
      1. If not sure/yes, please tell us the age you noticed (years+months), and if you tried any therapy:
  6. Did your child have tear duct blockage?
    1. No
    2. Not sure
    3. Yes.
      1. If not sure/yes, please tell us the age you noticed (years+months), and if you tried any therapy:
  7. Does/did your child have any other eye problems (e.g. cylinder, prism etc)
    1. No
    2. Not sure
    3. Yes.
      1. If not sure/yes, please specify:

Nose

  1. Have you ever noticed abnormalities with the ability to smell in your child?
    1. No
    2. Not sure
    3. Yes
      1. If not sure/yes, please specify the age the problem started, and the characteristics of the problem:

Ears

  1. Does your child have (known) hearing problems?
    1. No
    2. Not sure
    3. Yes
      1. If not sure/yes, please specify the age the problem started, and the characteristics of the problem:
  2. Are the hearing abilities of your child ever been tested?
    1. No
    2. Not sure
    3. Only (standard) newborn hearing screening
    4. Yes
      1. If so, please specify the results

Teeth

  1. How do you brush the teeth of your child?
    1. No teeth yet
    2. Manual toothbrush
    3. Electrical toothbrush
    4. Not possible
      1. (please tell us how you try to take care of the teeth)
  2. How are treatments by the dentist done?
    1. No teeth yet / no treatment yet
    2. Without sedation
    3. Lightly sedated at dentist's office
    4. With general anaesthesia at a hospital
      1. Other (please specify)
  3. At what age did your child get first teeth?
    1. No first teeth yet
    2. I'm not sure
      1. At age (years+months):
  4. At what age did your child shed the milk teeth?
    1. No first teeth yet
    2. I'm not sure
      1. At age (years+months):
  5. Does your child have unusually many cavities in the teeth?
    1. No teeth yet
    2. No
    3. Not sure
    4. Yes
      1. If not sure /yes, please specify
  6. Does/did your child have any other problems with teeth/mouth?
    1. No
    2. Yes
      1. (please specify what problem and at what age it occurred. Did you try any therapy?)

Gastrointestinal

Did/does your child have any of the following?

  1. Constipation?
    1. No
    2. Not sure
    3. Yes
      1. If not sure/yes, please tell us from what age on and whether any therapy was tried (and whether it was successful or not)
  2. Reflux?
    1. No
    2. Not sure
    3. Yes
      1. If not sure/yes, please tell us from what age on and whether any therapy was tried (and whether it was 
  3. (Excessive) burping?
    1. No
    2. Not sure
    3. Yes
      1. If not sure/yes, please tell us from what age on and whether any therapy was tried (and whether it was 
  4. Other gut problems (for example: Hirschprung disease, pyloric stenosis, etcetera)?
    1. No
    2. Not sure
    3. Yes
      1. If not sure/yes, please tell us from what age on and whether any therapy was tried (and whether it was 

Muscles and joints

  1. How do you estimate the muscle tone in your child'?
    1. Not sure
    2. Low (hypotonia)
    3. Normal
    4. High (hypertonia)
  2. Did/does your child have much drooling?
    1. No
    2. Not sure
    3. Yes, previously
    4. Yes, currently
      1. If not sure/yes, please tell us at what age, and what therapies you tried:
  3. Does/did your child ever have dislocated joint(s)?
    1. No
    2. Not sure
    3. Yes
      1. If not sure/yes, please tell us at what age, and what therapies you tried:
  4. Are there any other joint or muscle problems you want to tell us about?
    1. No
    2. Not sure
    3. Yes
      1. If not sure/yes, please tell us at what age, and what therapies you tried:

Infections

  1. Did/does your child have recurrent/frequent infections?
    1. No
    2. Not sure, but I think it is comparable with other kids
    3. Yes
      1. (please specify at what age and what kind of infections)
  2. How often a year does/did your child need antibiotics because of an infection?
  3. Was your child ever admitted to the hospital because of an infection?
    1. No
    2. Yes
      1. (please specify at what age, and what kind of infection)

Genitalia

  1. If your child is a boy: were both testicles descended at birth?
    1. Inapplicable: girl
    2. Yes
    3. Not sure
    4. Retractile testis/testes
    5. No: one was not descended
    6. No: both were not descended
  2. After finding out one/both of the testicles was/were not descended, was this surgically corrected?
    1. No
    2. Yes
      1. (please tell us at what age)
  3. Did/does your child have any problems with the urinary / genital system, or start of puberty?
    1. No
    2. Not sure
    3. Yes
      1. If not sure/yes, please specify what, and at what age

Skin

Next, we want to ask you some questions about the skin of your child.
If you have something you would rather want to show us on a picture, you can send it with the other pictures we are asking you to send us (we will tell you more about that at the last page of this questionnaire).

  1. Did you ever recognize café au lait spots ('coffee with milk' pigmentation spots)?
    1. No
    2. Yes
      1. (Please specify if you want)
  2. Did you ever recognize spots with less pigment than normal?
    1. No
    2. Yes
      1. (Please specify if you want)
  3. Are there any other unusual skin characteristics? (for example spots, texture,
    sensitivity)
    1. No
    2. Yes
      1. (Please specify if you want)

Fingers and hands

Does your child have..

  1. Limited mobility in the fingers or wrists?
    1. No
    2. Not sure
    3. Yes
      1. If not sure/yes, please tell us at what age, 
      2. and what therapy you tried
  2. Abnormal shape of the nails/fingers?
    1. No
    2. Not sure
    3. Yes
      1. If not sure/yes, please specify 
  3. Abnormal number of fingers?
    1. No
    2. Yes
      1. If yes, please specify 
  4. Have you noticed any other abnormalities of the fingers/hands? If so please tell us at what age, and what therapies you tried?

Feet and toes

  1. What is the present shoe size of your child? (please indicate the (calculated) European size)
UKEuropeanUSAJapan
4204½ or 512½
4½215 or 5½13
521 or 225½ or 613½
5½22613½ or 14
6236½ or 714 or 14½
6½23 or 247½14½ or 15
7247½ or 815
7½258 or 915½
825 or 268½ or 916
8½269½16½
9279½ or 1016½ or 17
102810½ or 1117½
10½ or 112911½ or 1218 or 18½
11½3012½18½ or 19
12311319 or 19½
12½3113 or 13½19½ or 20
1332120
13½32½1½20½
1331½ or 221
2342½ or 322

shoeSizes.png

  1. Does your child have an unusual amount / position of the toes?
    1. No
    2. Not sure
    3. Yes
      1. If not sure/yes, please specify and tell us at what age
  2. Does your child have abnormal shape of the nails/toes?
    1. No
    2. Not sure
    3. Yes
      1. If not sure/yes, please tell us at what age, and what therapy you tried
  3. Is you child wearing special shoes/ a brace?
    1. No
    2. Yes, previously
    3. Yes, currently
      1. If yes, please tell us since what age, and the reason
  4. Have you noticed any other abnormalities of the feet/toes? If so please tell us at what age, and what therapies you tried?

Hospital

  1. Did your child ever had surgery?
    1. No
    2. Yes
      1. (please specify at what age, and the reason)
  2. Was your child ever admitted to the hospital for other reasons than surgery?
    1. No
    2. Yes
      1. (please specify at what age, and the reason)
  3. Is there anything we did not ask you about and you do want to tell us about?

Pictures

To assess the characteristics of your child’s face, hands and feet we will be pleased toreceive pictures. Of course, we’ll respect the privacy of your child completely: we will only use the pictures for the description of the characteristics fitting PittHopkins syndrome, and will not use these for any publication. Only researchers within this study will see your pictures, meaning prof Hennekam and i (Melanie Baas). Especially in describing someones external features 'a picture is worth a thousand words'.
Of course: sending pictures is completely voluntary.
Important: Some of you have already forwarded clinical pictures to Dr. Hennekam; in that case resending is not needed.

The pictures we would like to receive:

  1. Face (one front view, one side view)
  2. Fingers (one picture of each hand)
  3. Feet (one picture of each feet)

You can send the pictures to us at the email address PittHopkins@amc.uva.nl
You can see an example of the kind of pictures below.These pictures are posted with permission.
(The amount of pictures is not the same as we are asking you: a picture of the right feet is missing, and unless you want to share something specific with usone pictures of each hand is sufficient).

Face FrontFace SideTop of HandDownside of Hand

 

  1. About the pictures:
    1.1. No, i did not send pictures to prof. Hennekam before. I will not send pictures to you now.
    1.1. No, i did not send pictures to prof. Hennekam before. I will send you pictures now.
    1.1. Yes, i did send pictures to prof. Hennekam before, but i don't give permission for you to use them in this study.
    1.1. Yes, i did send pictures to prof. Hennekam before. I hereby give you premission to track those pictures with help of my date of birth and country on the first page of this questionnaire, and use them for this study.
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