ks questionnaire by WV05FP

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									                      Kleefstra syndrome
                    9q34.3 Deletion syndrome
                         Questionnaire

(also known as chromosome 9q subtelomere deletion syndrome, 9qSTDS, CHOMS,
9q34 deletion syndrome, deletion 9qter syndrome, hapE1 syndrome, 9q- syndrome)




                                     [1]
1.1 Contact details

1.1.1   Contact name(s)

1.1.2   Address


1.1.3   Post code / Zip code

1.1.4   Country

1.1.5   Email

1.1.6   Telephone


1.2     I am happy to be contacted by other 9q34.3 deletion syndrome families   YES   NO

1.3     I am happy to be notified of new research studies into the syndrome     YES   NO



1.4     Child’s name:

1.5     Sex             MALE           FEMALE

1.6     Birth date      (dd/mm/yyyy)


2       Genetics information

2.1     Karyotype and/or molecular results (chromosomes) / array test results etc.




3       Conception, Pregnancy & Labour


3.1     Conception
                                                     [2]
3.1.1   Normal                   Yes     No

3.1.2   Difficulty Conceiving    Yes     No

3.1.3   IVF                      Yes     No

3.1.4   Other (specify)




3.2     Describe any pregnancy problems, including small size, lack of fetal movement, excessive amniotic fluid,
        labour problems, or premature birth.




4       Newborn


4.1     Gestational age:         weeks           days

4.2     Apgar Scores (if known)

4.3     Birth weight

4.4     Birth length

4.5     Head circumference at birth

4.6     Was your baby floppy (hypotonic) at birth?      Yes     No

4.6.1   If YES, at what age was this first noticed?

4.7     Was your baby jaundiced after birth?            Yes     No

4.7.1   If YES, for how long?

4.8     Mother’s blood group

4.9     Child’s blood group

4.10    Describe any problems your baby had in the newborn period.
                                                        [3]
5       First signs

5.1     What were the first signs that your baby or child might have a chromosome disorder?




5.2     When in the pregnancy/ after the birth/in later life were these signs noticed?




5.3     Who first noticed these signs? E.g. parent, paediatrician, nurse, geneticist, therapist etc




6       Craniofacial features (appearance of the face and head)

6.1     Head shape

6.1.1   Head circumference in cm:              at age       years         months      days

6.1.2   Small head (microcephaly)                                   Yes             No

6.1.3   Wide head/flat at the back (brachycephaly)                  Yes             No

6.1.4   Craniosyntosis                                              Yes             No

6.1.5   Delayed closure of fontanels                                Yes             No

6.1.6   Other cranial anomalies (head shapes and sizes)(Please describe)




                                                           [4]
6.2     Nose

6.2.1   Broad nasal bridge             Yes           No

6.2.2   Slightly upturned nose Yes           No

6.2.3   Baby shape nose                Yes           No

6.2.4   Other nasal anomalies (describe)




6.3     Eyebrows

6.3.1   Eyebrows that meet in the middle/”Unibrow” (Synophrys)        Yes   No

6.3.2   Arched eyebrows                Yes           No

6.3.3   Straight eyebrows              Yes           No

6.3.4   Low set eyebrows               Yes           No

6.3.5   Other eyebrow anomalies (specify)




6.4     Eyelashes

6.4.1   Long eyelashes         Yes           No

6.4.2   Short Eyelashes        Yes           No

6.4.3   Other eyelash anomalies (specify)




6.5     Eyes

6.5.1   Widely spaced eyes (hypertelorism)           Yes         No

6.5.2   Upslanting eyes                      Yes            No

6.5.3   Downslanting eyes                            Yes         No

6.5.4   Squint (strabismus)                          Yes         No

                                                     [5]
6.5.5   Eye colour (describe)

6.5.6   Mother eye colour

6.5.7   Father eye colour

6.5.8   Almond shaped eyes                          Yes         No

6.5.9   Other eye anomalies (specify)




6.6     Mouth

6.6.1   Open mouth     (in babies)                        Yes        No

6.6.2   Open mouth     (in older children/adults)         Yes        No

6.6.3   Large tongue/Thick tongue                         Yes        No

6.6.4   Protruding tongue (Tongue sticks out)       Yes         No

6.6.5   Tongue tie                                        Yes        No

6.6.6   Tongue forked at tip                              Yes        No

6.6.7   Tongue deeply creased                       Yes         No

6.6.8   Other unusual tongue shape (describe)




6.6.9   Widely spaced teeth                               Yes        No

6.6.10 Other teeth abnormalities (describe)




6.7     Lips

6.7.1   Cupid’s bow shape upper lip     Yes         No

6.7.2   Everted lower lip               Yes         No

                                                    [6]
6.7.3   Thin lips                         Yes              No

6.7.4   Other lip anomalies (specify)




6.8     Ears

6.8.1   Low set ears             Yes                No

6.8.2   Crumpled ears            Yes                No

6.8.3   Other ear anomalies (specify)




6.9     Hair

6.9.1   Child’s Hair Colour:

6.9.2   Is this a different colour from parents or siblings?           Yes        No

6.9.3   Bald patches (unlike parents or siblings)                Yes         No

6.9.4   Fine Wispy hair (unlike parents or siblings)                   Yes        No

6.9.5   Thick hair (unlike parents or siblings)                  Yes         No

6.9.6   Flaky scalp (unlike parents or siblings)                 Yes         No

6.9.7   Patchy scalp (unlike parents or siblings)                Yes         No

6.9.8   Other hair anomalies (specify)




6.10    Other facial features

6.10.1 High forehead                                Yes          No

6.10.2 Flat face                                    Yes          No

6.10.3 Patches of lighter coloured skin Yes                No

                                                           [7]
6.10.4 Other feature 1 (describe)




6.10.5 Other feature 2 (describe)




6.10.6 Other feature 3 (describe)




7      Feeding
7.1    Please say whether you tried to breastfeed your baby and how you managed.




7.2    Has your child had any feeding problems - minor and temporary or severe? Describe any treatments
       (such as tube feeding or a gastrostomy).




Have any of the following been a problem for your child?
                                                   [8]
7.3     Pulmonary Aspiration                              Yes       No

7.3.1   If YES: Age(s)         Treatment (if any)         Outcome




7.4     Aspiration pneumonia                              Yes       No

7.4.1   If YES Age(s)          Treatment (if any)         Outcome




7.5     Reflux (GORD, GERD)                               Yes       No

7.5.1   If YES Age(s)          Treatment (if any)         Outcome




7.6     Fundoplication                                    Yes       No

7.6.1   If YES Age(s)          Outcome




7.7     Drooling                                          Yes       No

7.7.1   If YES Age(s)          Treatment (if any)         Outcome




                                                    [9]
7.8     Poor chewing/swallowing without chewing                                   Yes           No

7.8.1   If YES Age(s)         Treatment (if any)                                  Outcome




7.9     Storing food in mouth without swallowing until another spoonful arrives Yes             No

7.9.1   If YES Age(s)         Treatment (if any)                                  Outcome




7.10    Oral defensiveness (Over responsiveness to particular food textures, tastes and smells which may
        lead to a very limited diet)                                                Yes           No

       If YES describe
7.10.1 Age(s)        Foods WILL eat exclusively                                   Foods WON’T eat at all




7.10.2 Age(s)           Treatment (if any)                                Outcome




7.11    Other feeding related problem (please describe)




                                                    [10]
7.12    What are your child’s favourite foods/drinks? (Include from what age they have been a favourite)




7.13    What foods/drinks does your child dislike most? (Include from what age they have indicated a dislike
        for the food/drink)




8       Growth

8.1     Please state whether your child is tall, average or short for their age. Tall   Average   Short


8.2     Is your child / has your child been overweight?        Yes     No

8.2.1   If Yes, by what age did the overweight develop?

8.2.2   What steps do/did you take to control his/her weight?




8.2.3   If your child is no longer overweight state at what age this problem was resolved:


8.3     Is your child / has your child been underweight?       Yes     No

8.3.1   If Yes, by what age did the underweight develop?

8.3.2   What steps do/did you take to control his/her underweight?




                                                       [11]
8.3.3   If your child is no longer underweight state at what age this problem was resolved:


8.4     Does your child’s belly tend to be distended regardless of whether (s)he is overweight or not ?
                                                                                           Yes No

8.4.1   If Yes, when would this be noticeable? (e.g. All the time, only after a meal, only when (s)he is
        constipated)



8.5     Please describe any other growth or weight related problems




8.6     If you have any height/weight measurements from your child’s development please include them
        here and specify units (e.g. inches, cm, lbs, kg)

Age of child                  Height                         Weight




                                                     [12]
9       Body systems

9.1     Heart

Has your child been diagnosed with any of the following?

9.1.1   Heart Murmur                 Yes          No

9.1.2   Leaking heart valves         Yes          No

9.1.3   Abnormal heart rhythms       Yes          No

9.1.4   Tachycardia                  Yes          No

9.1.5   ASD                          Yes          No

9.1.6   VSD                          Yes          No

9.1.7   Pulmonary Stenosis           Yes          No

9.1.8   PDA                          Yes          No

9.1.9   Tetralogy of Fallot          Yes          No

9.1.10 Cardiomyopathy                Yes          No

9.1.11 Other heart condition (1) (describe)




9.1.12 Other heart condition (2) (describe)


                                                  [13]
9.1.13 Has your child had any imaging or other investigations of the heart?   Yes       No

9.1.13.1       If Yes, please describe

Type of investigation                 Age of child                  Outcome of investigation




9.1.13 If your child has a heart condition, how does this affect him/ her?




9.1.14 What treatment/surgery (if any) has been needed?




9.1.15 What treatment (if any) is anticipated?




                                                     [14]
9.2     Seizures


9.2.1   Has your child had any seizures (fits)?     Yes    No

        If Yes, describe below

        Type of seizure                       Age          Treatment   Well controlled?

9.2.1.1 Infantile spasms



9.2.1.2 Febrile convulsions



9.2.1.3 Absence seizures


        Type of seizure                       Age          Treatment   Well controlled?

9.2.1.4 Grand mal seizures




9.2.1.5 Atonic (drop) seizures




9.2.1.6 Complex partial seizures




9.2.1.7 Simple partial seizures




9.2.1.8 Nocturnal seizures




9.2.1.9 Lennox Gastaud syndrome




9.2.1.10       Other type of seizure 1 (describe)

                                                    [15]
9.2.1.11       Other type of seizure 2 (describe)




9.2.2   Some families have described a behavior which looks like an absence seizure but which does not
        produce an epileptic wave form on EEG. Please describe, including age of onset, if this applies to
        your child.




9.2.3   Has your child had any imaging or other investigations of the head or brain? (E.g. MRI, CAT or
        EEG)
                                                                                           Yes No

9.2.3.1 If YES please describe

Age     Type of scan          Results




9.2.3.2 Would you be willing to share these scans with researchers?               Yes    No




9.3     Tonsils/adenoids and sleep apnoea


                                                    [16]
9.3.1   Does/did your child have large tonsils?             Yes            No

9.3.2   Does/did your child have large adenoids?            Yes            No

9.3.3   Has your child been diagnosed with sleep apnoea? Yes               No

9.3.4   If YES to any of the above please state at what age the diagnosis was made, any treatments, and the
        response to them.




9.4     Respiratory (breathing) conditions


Does/did your child suffer from:

                          Age of Onset       Treatment                                           Outcome

9.4.1   Asthma




9.4.2   Hay Fever




9.4.3   Cystic Fibrosis




9.4.4   Laryngomalacia




9.4.5   Tracheomalacia




                                                    [17]
9.4.6   Other respiratory illness (describe)




9.4.7   Other respiratory illness (describe)




9.4.8   Has your child had any respiratory infections?     Yes          No

9.4.8.1 If Yes

        Age      Type of Infection (if known)              Treatment (if any)   Response




                                                    [18]
9.4.8.2 Does your child still have respiratory infections?          Yes           No

9.4.8.2.1      If No, at what age did they cease to be a problem?

9.4.9   Has your child had any imaging or other investigations of the respiratory system? Yes          No

9.4.9.1 If YES please describe

Age     Type of investigation         Results




9.4.10 Has your child demonstrated: Breath holding/hyperventilating / Air swallowing / irregular breathing
       issues?                                                                          Yes             No


                                                      [19]
9.4.10.1        If Yes, please describe including age, treatment (if any) and outcome




9.5     Kidneys, bladder and urinary system

Has your child been diagnosed with any of the following:

9.5.1   Renal cysts                                              Yes        No

9.5.1.1 If YES
        Age when diagnosed              Treatment (if any)                              Outcome




9.5.2   Urinary Reflux                                           Yes        No

9.5.2.1 If YES
        Age when diagnosed              Treatment (if any)                              Outcome




9.5.3   Other kidney, bladder or urinary system disorder 1. (Specify):




9.5.3.1 Age when diagnosed              Treatment (if any)                              Outcome
                                                      [20]
9.5.4     Other kidney, bladder or urinary system disorder 2. (Specify):




9.5.4.1 Age when diagnosed                 Treatment (if any)                                Outcome




9.5.4     Has your child had any infections of the kidneys, bladder or urinary system?       Yes          No

9.5.4.1           If YES
Age               Type of Infection               Treatment                                        Response




9.5.5     Does your child still have kidney/bladder/urinary infections?          Yes    No

9.5.5.1 If No, at what age did they cease to be a problem?


9.5.6     Has your child had any imaging or other investigations of the kidneys, bladder or urinary system?
          (e.g. for duplicate collecting systems of the kidneys)      Yes            No

9.5.6.1 If YES, please describe

Age       Investigation           Result                           Treatment (if any)              Outcome
                                                           [21]
9.6     Stomach & Bowels


9.6.1   Has your child been diagnosed with a Hernia           Yes      No

        If Yes,

9.6.1.1Was the hernia:          inguinal      umbilical       other (specify):

9.6.1.2 Age       Treatment (if any)         Outcome




9.6.2   Has your child been diagnosed with Pyloric stenosis   Yes      No

9.6.2.1 If Yes,

        Age       Treatment (if any)         Outcome




                                                      [22]
9.6.3   Has your child been diagnosed with Duodenal atresia         Yes     No

9.6.3.1 If Yes,

        Age       Treatment (if any)          Outcome




9.6.4   Does/did your child have Anal Atresia / Imperforate Anus
        (the normal opening of the anus is not present)          Yes        No

9.6.4.1 If Yes,

        Age       Treatment (if any)          Outcome




9.6.5   Has your child had any other gastrointestinal disorder (eg severe vomiting, reflux)?   Yes   No

9.6.5.1 If Yes,

        Disorder                Age    Treatment (if any)                   Outcome




9.6.6   Has your child had any imaging or other investigations of the stomach or bowels?       Yes   No

9.6.6.1 If YES

                                                     [23]
Age     Investigation        Result                         Treatment (if any)   Outcome




9.6.7   Does/has your child have/had a problem with constipation?                Yes   No

9.6.7.1 If YES at what age did the problem begin?

9.6.7.2 Describe how constipation has effected your child




9.6.7.3 What treatments/therapy/surgery has been tried?
Age Treatment/therapy                                       Outcome




                                                    [24]
9.6.8   Does/has your child have/had a problem with diarrhoea?                         Yes    No

9.6.8.1 If YES at what age did the problem begin?

9.6.8.2 Describe how diarrhoea has effected your child




9.6.8.3 What treatments/therapy/surgery has been tried?
Age Treatment/therapy                                      Outcome




9.6.9   Have you noticed a correlation between mood/behaviour and constipation/diarrhoea/other gut
        problems?                                                                      Yes No

9.6.9.1 If YES please describe




9.6.10 Has your child been diagnosed with bacterial overgrowth of the small intestines? Yes   No
9.6.10.1     If YES, please describe including age when diagnosed




                                                    [25]
9.6.11 Has your child been diagnosed with any other stomach/bowel disorder?            Yes   No
9.6.11.1     If YES, please describe including age when diagnosed




9.7    Incontinence

9.7.1 Is your child potty/toilet trained?            Yes No
9.7.1.1 If YES please state at what age this happened, and how this was accomplished




       If NO is your child incontinent of

                                     Day time             Night time

9.7.1.2.1     Urine only

9.7.1.2.2     Faeces only

                                                   [26]
9.7.1.2.3      Both Urine & faeces


9.8     Genital area

9.8.1   Does your child have any unusual features in the genital area?   Yes    No

9.8.1.1 If YES what are they? (include undescended testicles in boys)




9.8.1.2 What treatment/therapy (if any) has been offered?




9.8.1.3 What was the outcome of any treatment/therapy?




9.9     Mouth and palate (roof of the mouth)


9.9.1   Does your child have a cleft (split) in the palate or the lip?    Yes   No

9.9.1.1 If NO, does your child have a high palate?                        Yes   No

9.9.2   How has this affected 1. feeding?




                                                       [27]
9.9.3                         2. speech?




9.9.4   What treatment/therapy (if any) has been given?




Does your child have

9.9.5   Protruding tongue             Yes      No

9.9.6   Large tongue                  Yes      No

9.9.7   Hard to understand speech     Yes      No

9.9.8   Any other problem of the mouth and palate excluding dental problems (see later) Yes           No

9.9.8.1 If YES, please describe




9.10    Hands and feet, skin and nails


9.10.1 Hands (including fingernails)

9.10.1.1       Are your child’s fingernails unusual? Yes      No

9.10.1.1.1     If YES please describe (e.g. soft, brittle, thick, turning in, flaking, an unusual shape)




                                                      [28]
9.10.1.2      Does/did your child have fatty pads on his/her fingers or on other parts of his/her hands
                                                                                           Yes No

9.10.1.3      Does your child have a single palmar transverse crease (sometimes called a Simian crease) on
              the palms of his/her hands?
                                                                                        Yes No

9.10.1.4      Are your child’s hands unusual in any other way?               Yes     No

9.10.1.4.1     If Yes, please describe all unusual features




9.10.2 Feet (including toenails)

9.10.2.1      Are your child’s toenails unusual?     Yes      No

9.10.2.1.1    If YES please describe (e.g. soft, brittle, thick, turning in, flaking, an unusual shape)




9.10.2.2      Does/did your child suffer from flat feet (Pes planus, fallen arches)?         Yes     No

9.10.2.2.1    If YES what treatment /therapy has been used and how successful has it been?




9.10.2.3      Does/did your child wear orthotics, piedro boots or other specialist footwear?         Yes   No

9.10.2.3.1    If YES please describe




                                                     [29]
9.10.2.4       Does/did your child have fatty pads on his/her toes or on other parts of his/her feet ? Yes No


9.10.2.5       Are your child’s feet unusual in any other way?       Yes    No

9.10.2.5.1     If Yes, please describe all unusual features




9.10.3 Skin


9.10.3.1       Does your child’s skin appear unusual in any way? Yes        No

9.10.3.1.1     If YES please describe (e.g. very hairy, hairless, patches of lighter pigmentation, very dry,
               flaky, oily, psoriasis, eczema, prone to boils etc)




9.10.3.1.2     Have any special treatments/therapies been necessary?        Yes     No

9.10.3.1.2.1   If YES please describe the treatment/therapy and whether it was successful




9.11   Neuropsychiatric/behavioural disorders


9.11.1 Autism/Autistic tendencies

Has your child been diagnosed with


                                                     [30]
9.11.1.1      Autistic tendencies/Autistic Traits                                        Yes   No

9.11.1.2      Autism                                                                     Yes   No

9.11.1.3      ASD (Autism Spectrum Disorder)                                             Yes   No

9.11.1.4      PDDNOS (Pervasive Development Disorder Not Otherwise Specified)            Yes   No

9.11.1.5      Other similar disorder (please specify)




Does your child exhibit any of the following:

9.11.1.6      Sterotypies/stimming e.g. waving a hand in front of his/her face, running sand/beans/peas
              continually through his/her hands                                                 Yes No

9.11.1.7      Have a fascination with fans or other similar spinning objects.    Yes     No

9.11.1.8      Lack of imaginative play with other children                       Yes     No

9.11.1.9      Repeating mode where he/she will repeat a phrase/word/song/sound over and over Yes    No

9.11.1.10     A heavy reliance on routines and structure                         Yes     No

9.11.1.11     Avoidance of looking directly at tasks/people                      Yes     No

9.11.1.12     Sudden changes in lighting causing fear/behavioural problems       Yes     No

9.11.1.13     Phobias of / fascination with specific sounds e.g. telephone ringing Yes   No

9.11.1.14     Role play with self/talking/singing to self                        Yes     No

9.11.1.15     Eye rolling upward                                                 Yes     No

9.11.1.16     Facial or vocal tics                                               Yes     No

9.11.1.17     Periods of unexplained staring                                     Yes     No

9.11.1.18     Difficulty coping with change                                      Yes     No

9.11.1.19     Echolalia (repeating back what you have said)                      Yes     No

9.11.1.20     Echopraxia (copying your movements)                                Yes     No

9.11.1.21     Walking around on tiptoes                                          Yes     No

9.11.1.22     Swapping between right and left handedness                         Yes     No


                                                    [31]
9.11.1.23      Extremely passive behavior                                          Yes     No

9.11.1.24      Extremely active behavior                                           Yes     No

9.11.1.25      Dislike of certain textures                                         Yes     No

9.11.1.26      Does not seek cuddles and hugs                                      Yes     No

9.11.1.27      Repetitive behaviours                                               Yes     No

9.11.1.28      An eye for minute details                                           Yes     No

9.11.1.29      Preferring to play “in their own world”                             Yes     No

9.11.1.30      Laughs inappropriately (e.g. when someone is hurt)                  Yes     No

9.11.1.31      Appears not to listen to/ respond to the verbal word                Yes     No

9.11.2 Autistic catatonia

Often at or after the onset of puberty, some of the children/adults experience a severe neuropsychiatric
disorder which has been described variously as autistic catatonia, chaotic behavior leading to severe apathy
syndrome, rapid cycling bipolar disorder with catatonic episodes, post traumatic stress disorder, depression,
mania, unspecified mood disorder, and complex dystonia.

Symptoms described often include periods of physical slowing up, difficulty completing even simple tasks
which had previously not been a problem, freezing in unusual postures, catatonic/apathetic episodes, and
periods of excited, mania like, driven behavior; and periods of extreme phobias/fear or anxiety. Dystonia and
other movement disorders may occur, along with a loss of gained skills and an increase in
autistic/stereotypical behaviours, repetitive speech (if any), echolalia, lack of eye contact, and some
parkinsonian type episodes where EEGs and MRI’s are normal or show no structural changes from earlier
scans.

If your child has experienced a severe neuropsychiatric or behavioural deterioration please describe it below
IN AS MUCH DETAIL AS POSSIBLE. (Note: While generally linked to the onset of puberty occasionally
families have reported similar episodes triggered by either environmental insults or traumatic episodes such
as bereavement.)




                                                     [32]
9.11.3 Amnesia

Has your child shown evidence of any periods of amnesia (e.g. not recognizing familiar people/places)

Yes    No

9.11.3.1      If Yes, please describe




9.11.4 Other Behaviours

9.11.4.1      Describe your child’s behaviour on a “normal” day.




                                                   [33]
9.11.4.2      Describe your child’s behaviour on a “challenging” day.




9.11.4.3      Has your child exhibited any self injurious behavior (e.g. head banging, pulling own hair
              out, biting back of his/her hand)                           YES           NO

9.11.4.3.1    If YES, please describe (including age and any treatment/therapy/intervention that helped)




If your child has demonstrated any of the following behaviours please describe (including age of onset):

9.11.4.4      Digging into/tearing nappies




9.11.4.5      ADD/ADHD (Attention Deficit (Hyperactivity) Disorder)




9.11.4.6      Biting others

                                                    [34]
9.11.4.7    Hair pulling of others




9.11.4.8    Tantrums




9.11.4.9    “Doing a Hulk, for no obvious reason”




9.11.4.10   Bouts of prolonged screaming




9.11.4.11   Throwing things / wrecking the house




9.11.4.12   Fear of lifts (elevators)




9.11.4.13   Other phobias and anxieties (please describe including age of onset, and when (if) resolved)




                                                 [35]
9.11.4.14     Does your child have any other behaviours you find difficult? (For example, other
              challenging behaviour, shyness, restlessness, passivity, inappropriate friendliness). YES NO

9.11.4.14.1   If Yes, please describe the behaviors, including age of onset:




9.11.4.15     Describe any management advice you have received for your child’s behaviours that proved
              helpful.




                                                    [36]
9.11.4.16     Describe any therapy you have received for your child’s behaviours that proved helpful.




9.11.4.17     Has your child been prescribed medication to help their behaviour?              YES       NO

9.11.4.17.1   If YES, please specify (including age, dosage and result)




9.12   Issues of temperature regulation

Some families have mentioned the following issues in connection with temperature regulation, Please
comment on any that relate to your child.

9.12.1 Tendency to get very high fevers




9.12.2 Febrile Convulsions




                                                   [37]
9.12.3 Cold hands/feet




9.12.4 Temperature variations (for different parts of the body)




9.12.5 Temperature regulation problems (can’t maintain a normal temperature)



9.12.6 Problems coping with cold




9.12.7 Problems coping with heat




9.12.8 Does not sweat normally




9.12.9 Other temperature related issue (please describe)




9.13   Blood related disorders


9.13.1 Has your child been diagnosed with any blood related disorders (including anemia)? Yes   No

                                                    [38]
9.13.1.1      If Yes, please describe including name of disorder, age, treatments and outcomes




9.14   Cancer

9.14.1 Has your child been diagnosed with any cancer? Yes                No

9.14.1.1      If Yes, please describe including type of cancer, age, treatments and outcomes




9,15   Endocrine & Metabolic systems
       (Hormonal glands & chemical changes within the body)

9.15.1 Has your child been diagnosed with hypothyroidism?         Yes            No

9.15.1.1      If Yes, please describe
              Age Treatment                                              Outcome




9.15.2 Has your child been diagnosed with hypoparathyroidism?     Yes            No

9.15.2.1      If Yes, please describe
              Age Treatment                                              Outcome

                                                   [39]
9.15.3 Has your child been diagnosed with any other disorder of the endocrine system? Yes              No

9.15.3.1      If Yes, please describe including name of disorder, age, treatments and outcomes




9.15.4 Has your child been diagnosed with any metabolic disorder?           Yes          No

9.15.4.1      If Yes, please describe including name of disorder, age, treatments and outcomes




9.16   Immune System

9.16.1 Has your child been diagnosed with any disorder of the immune system? Yes                 No

9.16.1.1      If Yes, please describe including name of disorder, age, treatments and outcomes




9.16.2 Immunology parameters

Has your child had blood tests to estimate levels of immunoglobulines, blood lymphocytes, complement
factors, etc?                                                                    Yes          No

9.16.2.1      If Yes, please give results (including age of child for each blood test)


                                                     [40]
9.17   Orthopaedic disorders

9.17.1 Does your child have scoliosis (curvature of the spine)? Yes             No

9.17.1.1      If Yes please give measurements and describe treatments

Age    Measure of scoliosis (in degrees)    Treatment/therapy (if any) and outcome




9.17.2 Does your child have lordosis (hollow back/saddle back/ swayback)? Yes        No

9.17.2.1      If Yes please give measurements and describe treatments

Age    Measure of lordosis                         Treatment/therapy (if any) and outcome




9.17.3 Does your child have kyphosis (hunchback/ hump back)?            Yes          No

9.17.3.1      If Yes please give measurements and describe treatments

Age    Measure of kyphosis                                 Treatment/therapy (if any) and outcome




                                                   [41]
9.17.4 Does your child have any other orthopaedic disorders?               Yes            No

9.17.4.1       If Yes please describe, including age, treatment (if any) and outcomes




9.18   Connective tissue disorders and other musculature disorders

9.18.1 Does your child have joint laxity (looseness)? (E.g. they may be able to get into dislocated looking
       positions like a contortionist)              Yes            No

9.18.1.1       If Yes please describe including treatment received (if any) and any outcome




9.18.2 Does your child have joint contractures (tightness)? (E.g. they may be unable to move a limb because
       of tight or shortened muscles)       Yes             No

9.18.2.1       If Yes please describe including treatment received (if any) and any outcome




                                                    [42]
9.18.3 Does your child have any other disorder of his/her musculature/connective tissue?      Yes   No

9.18.3.1       If Yes please describe including treatment received (if any) and any outcome




9.19   Tolerance of pain/tears

9.19.1 How would you describe your child’s level of pain tolerance?

Low (i.e. feels pain very easily)
Normal
High (Can tolerate high levels of pain)
Don’t Know (e.g. because child cannot express feeling pain)

9.19.2 Does your child

Never cry tears
Rarely cry tears
Cry normal amounts of tears
Cry tears often

9.19.3 Other issues with pain tolerance or tears: (please describe)




9.20   Eyes and Vision


9.20.1 Is your child registered blind?Yes            No

9.20.1.1       If YES at what age were they diagnosed as blind?


Does/did your child have any of the following vision problems?

                                                     [43]
Vision problem                                       Treatment (if any)

9.20.2 a squint/cross eyed (strabismus) Yes   No


9.20.3 eyes not focusing properly   Yes       No


9.20.4 eyes not moving together     Yes       No


9.20.5 eyes not moving smoothly     Yes       No


9.20.6 a slow blink rate            Yes       No


9.20.7 conjunctivitis               Yes       No


9.20.8 long sightedness             Yes       No


9.20.9 short sightedness            Yes       No


9.20.10       Other vision problem (1)
              (please describe)




9.20.11       Other vision problem (2)
              (please describe)




9.20.12       Other vision problem (3)
              (please describe)




                                              [44]
9.20.13         Does your child wear glasses?                Yes                No

9.20.13.1       If YES, at what age did (s)he start wearing glasses?

9.20.13.2       If YES, describe any approach that helped your child adjust to wearing glasses




9.21      Hearing

9.21.1 Has your child been diagnosed with a hearing impairment?                 Yes       No

9.21.1.1        If Yes, is it

                Mild                  Moderate                         Severe


9.21.2 Describe any hearing problems your child has / had (such as glue ear, hearing loss) including age of
       onset.




9.21.3 How are any hearing problems managed? (e.g. hearing tubes (Grommets), hearing aids, special
       teaching)




                                                     [45]
9.21.4 Some parents have described how their children failed numerous distraction tests but their hearing
       tested normal after a brainstem test. Did this apply to your child?      YES              NO



9.22     Olfactory problems (Problems with sense of smell)

9.22.1 Has your child a problem with their sense of smell? Yes     No

IF Yes

9.21.2 Please describe including age at diagnosis,and any treatments/therapies you have tried.




9.23     Sense of touch

9.23.1 Does your child have any problems with their sense of touch? (e.g. tactile defensiveness) Yes    No

IF Yes

9.21.2 Please describe including age when noticed, and any treatments/therapies you have tried.




                                                    [46]
9.24   Teeth & Gums

9.24.1 Please use this space to tell us about your child’s dental development and any special treatment that
       has been necessary.




9.24.2 Bruxism (teeth grinding)

9.24.2.1       Does your child grind his/her teeth?                                YES            NO

9.24.2.1.1     If YES is this teeth grinding while awake only                      YES            NO


                                                      [47]
9.24.2.1.2                    teeth grinding while asleep only                    YES            NO

9.24.2.1.3                    teeth grinding while both awake and asleep          YES            NO

9.24.2.1.4     At what age did the teeth grinding begin?


9.24.2.1.5     Describe any treatments you have tried and their outcome.




10     Puberty

If your child has reached puberty, please describe it and say whether it proceeded as expected. Note any
behavioural changes not already mentioned.




                                                    [48]
11     Later Life:

If applicable note any changes that occurred as your child entered his/her

11.1   Twenties




11.2   Thirties




11.3   Forties




                                                     [49]
11.4     Fifties




11.5     Sixties




12       Mobility & activity: gross motor skills

12.1     Milestones (please mark any that your child has achieved, stating the age in years & months when
         s/he achieved them)

Rolled             Sat        Crawled/shuffled              Walked        Walked          Climbed
                                                                          alone           stairs


12.2     How does your child move around indoors and outdoors? Mention sitting, rolling, crawling, walking,
         climbing stairs and any other activities




12.3     What treatment, if any, has your child needed for hypotonia (floppiness)?




                                                     [50]
12.4   What supports/aids (if any) has your child needed?




13     Hands, coordination and dexterity: fine motor skills

13.1   Describe any delays or difficulties, for example, in holding cutlery/ bottle/ toys




13.2   Describe any therapy/ aids/ special equipment used to help with fine motor skills




                                                     [51]
14     Other conditions

14.1   Has your child had any other medical conditions not already mentioned? Yes           No

14.1.1 If yes, please say what they are, what treatment/therapy, if any, is being given and if it has been
       helpful.

Age    Medical Condition                              Treatment/therapy                             Outcome




                                                      [52]
Age    Medical Condition                            Treatment/therapy   Outcome




15     General wellbeing

15.1   Tell us about your child’s general health and wellbeing.




                                                    [53]
16     Energy levels

16.1   How would you describe your child’s energy levels when they are well?

       Less than those of children of a similar age?
       Similar to those of children of a similar age?
       Greater than those of other children of a similar age?

16.2   Any other comments on energy levels?




17     Spending time in hospital

17.1   For what procedures/ illnesses has your child spent time in hospital?
Age          Procedure/illness requiring hospitalization                   Duration of stay in hospital




                                                     [54]
18     Medicines

18.1 Drug/Supplement history
What medicines (if any) has your child taken in the past? Include any remedies that you buy without a
doctor’s prescription.

Age    Medicine/Remedy                      Reason for medicine/remedy                  Effect (if any)




                                                   [55]
Some parents have described negative/unusual reactions to some drugs/therapies by their child.

Unusual / unexpected reactions to drugs or therapies mentioned are listed below.

Anaesthetics – higher than normal dosage required

Muscle relaxants – no response or the opposite of the expected response

Negative reaction to droperidol

Poor reaction to abilify

Very agitated reaction to lorazepam

No reaction at all to diazepam

18.2   Please name any drugs/supplements or therapies that have caused a negative or unusual
       reaction in YOUR child, and state the age of the child, the dosage given and describe the
       reaction.


Age    Name of drug/supplement/therapy              Dosage                Reaction




                                                    [56]
19     Other personal care

19.1   Can (s)he passively assist with personal care such as toileting? (i.e. not struggling against you)
                                                                                                     Yes    No

19.2   Can (s)he actively assist with personal care such as toileting? (e.g. by wiping his/her bottom)
                                                                                                    Yes     No


19.3   Can s/he wash, brush her/his teeth?                   Yes     No


19.4   Can s/he dress him/herself?                           Yes     No


19.5   Can s/he manage buttons?                              Yes     No


19.6   Can s/he manage shoelaces?                            Yes     No



19.7   How much help does s/he need during the day?




                                                     [57]
19.8   How much help does s/he need during the night?




20     Communication



Does your child communicate in any of the following ways

Communicates with                                          Example

20.1   Vocal sounds/noises         YES           NO


20.2   Eye contact                 YES           NO


20.3   Facial Expressions          YES           NO


20.4   Touch                       YES           NO


20.5   Laughing                    YES           NO


20.6   Crying                      YES           NO


20.7   Gestures                    YES           NO


20.8   Signing                     YES           NO


20.9   With symbols                YES           NO


20.10 With pictures                YES           NO

                                                 [58]
20.11 With written words            YES            NO


20.12 With objects                  YES            NO


20.13 With speech                   YES            NO


20.14 Using body language           YES            NO


20.15 Using electronic equipment YES               NO


20.16 Other way of communicating (describe)




20.17 Describe any difference between what your child understands and what s/he can express




20.18 Does your child need a lot of processing time? Yes            No           Don’t know

If your child speaks

20.19.1       At what age (years, months) did s/he start?

20.19.2       What sort of speech or sentences does your child use? (e.g. single words, 2/3-word phrases)



20.19.3       Please give examples of what your child might say




                                                   [59]
20.19.4        What sounds of speech does your child find it difficult to make clearly?




Is your child’s speech likely to be understood by

20.19.5        No one except your child                            Yes             No          Sometimes

20.19.6        Family                                              Yes             No          Sometimes

20.19.7        Others who meet your child often                    Yes             No          Sometimes

20.19.8        Others who meets your child occasionally            Yes             No          Sometimes

20.19.9        Others who meets your child for the first time



20.20 Communication Issues

20.20.1        Do communication issues cause your child frustration?       Yes    No      Don’t know

20.20.1.1      If Yes please describe




                                                    [60]
20.20.2          Has any form of therapy/intervention made a difference to the ability of your child to
                 communicate?
                                                            Yes             No              Don’t know

20.20.2.1        If Yes, please describe the therapy/intervention and how it helped.




21        Learning & Education


21.1 Does your child have any learning difficulty or intellectual disability?
(In some countries this is referred to as mental retardation)          Yes                No          Unknown

21.1.1 If Yes, describe briefly (e.g. borderline, mild, moderate, severe, profound)




21.2      Describe your child’s overall level of achievement in different learning areas. Please also state your
          child’s strengths – e.g. great memory, love of music/singing, engaging personality.




                                                        [61]
21.3   What helps your child to learn most easily?




21.4   In terms of schooling, what is your child best at?




21.5   What (if anything) does your child read?




21.6   What (if anything) can your child draw or write?




21.7   Does your child have a statement of special educational need/ or equivalent? Yes No

21.7.1 If Yes, what (in summary) does it say?




                                                     [62]
21.8   What learning support does your child receive? (e.g. one to one assistance in school)




21.9   Please describe your child’s education to date

Type of school (e.g. special needs kindergarten) Age (from..to..)                 Outcome for your child




                                                    [63]
22     Play and sociability

22.1 Play
What are your child’s favourite activities? (For example: favourite toys, TV, dvds/videos, computers, music,
playing with other people, pets, talking to themselves, singing, being in the company of familiar adults.
Please mention what age they were when the activity became a favourite.)




                                                    [64]
22.1.1 Could you describe how your child played at different ages?
Age                         Play (if any)




22.2   Sociability

How would you describe your child’s sociability?

                                Too sociable   Very Sociable    Average    Little sociability   no interaction

22.2.1 With familiar adults

22.2.2 With unfamiliar adults

22.2.3 With familiar children

22.2.4 With unfamiliar children


22.2.5 Have you noticed your child’s level of sociability change as (s)he gets older?              YES    NO

22.2.5.1       If Yes, please describe including what age any change occurred




23     Sleep

23.1   Has your child had a sleep study done?                  YES   NO

23.1.1 If Yes, please describe the results, including the age of your child when the sleep study was
       undertaken.




                                                      [65]
23.2   Has your child had problems getting to sleep?        YES       NO

23.2.1 Describe your solutions (if any)




23.3   Has your child had problems staying asleep?          YES       NO

23.3.1 Describe your solutions (if any)




23.4   Does your child suffer from sleep apnoea (periods where breathing stops during sleep)?
                                                                                YES           NO

23.5   Does/ did your child stretch/arch his/her neck back when sleeping?     YES           NO

23.6   Does/ did your child stretch/arch his/her neck back when awake?        YES           NO

23.7   Does/ did your child often sleep sitting up, folded forward?           YES           NO

23.8   Does/ did your child sleep in other unusual positions?                 YES           NO

23.8.1 If YES, please describe




23.9   Is your child unable to achieve REM (Rapid eye movement/Dream) sleep? YES            NO

23.10 Is your child unable to achieve deep sleep?                             YES           NO

                                                    [66]
23.11 Does/did your child take sleep medication?                                 YES            NO

23.11.1       IF YES, please specify

Sleep Medication                     Age     Dosage                       Outcome




24     Specialness

24.1   Are there things that your child does that are special to you?




24.2   Your child helping you/others

       How has s/he contributed most to your life, and to the lives of those who encounter him/her?




                                                    [67]
25     Services and interventions Describe the main interventions and therapies your child has received
       Therapy          Age              Aim                                          Outcome

25.1   Physiotherapy




25.2   Occupational




25.3   Speech therapy




25.4   Massage therapy




25.5   Play therapy




                                                  [68]
25.6   Music Therapy




25.7   Hippo therapy (horse therapy)




25.8   Hydrotherapy




       Therapy          Age            Aim          Outcome

25.9   Aromatherapy




25.10 Swim therapy




25.11 Reflexology




25.12 Vital Stim. Therapy




25.13 Craniosacral therapy




25.14 Osteopathy

                                             [69]
25.15 Chiropractic




25.16 ABA
(Applied Behaviour Analysis)




25.17 Hypobaric Oxygen therapy




25.18 Dolphin therapy




25.19 Ozone therapy




25.20 Urine therapy




25.21 Other therapy 1 (specify)




25.22 Other therapy 2 (specify)



                                  [70]
25.23 Other therapy 3 (specify)




25.24 Other therapy 4 (specify)




26     Humour


26.1   How would you describe your child’s sense of humour? (E.g. some parents have mentioned that their
       child likes slapstick style humour like Laurel and Hardy, and really enjoy exaggerated facial
       expressions. Others have said their child has a “wicked” sense of humour and loves it when things go
       wrong, are spilled, make a mess etc.)




27     Siblings


27.1   Does your child have any siblings? Yes      No

27.1.1 If YES, then how has having a brother/sister with the syndrome impacted on their lives?




                                                   [71]
27.1.2 If YES, then have you found any ways of helping siblings to cope?




28     Respite Care


28.1   Do you receive respite care for your child            Yes       No

28.1.1 If Yes, please describe the respite care, the age of the child when respite started and whether the
       respite was helpful to you and your family.




29     Accommodation


29.1   Does your child live in the family home?              Yes            No

29.1.1 If NO then please describe their type of accommodation and why you chose it (e.g. group home,
       sheltered dwelling, supported accommodation, psychiatric hospital, other institution)




                                                     [72]
29.1.2 At what age did they move to this accommodation?

29.1.3 What helped them to settle in their new accommodation?




30     Summary of studies performed for my child


Studies performed

30.1   MRI/ CT brain                             Yes          No

30.2   EEG                                       Yes          No

30.3   Renal US                                  Yes          No

30.4   Blood glucose or GTT (Glucose Tolerance Test) Yes           No

30.5   Other relevant investigations (specify)




30.6   Chromosome analysis                       Yes          No

30.7   Array CGH study                           Yes          No

30.8   Telomere FISH                             Yes          No


Genetic workup (previous to diagnosis) to rule out

30.9.1 Angelman/PraderWilli syndrome             Yes          No

30.9.2 SmithMagenis syndrome                     Yes          No

                                                       [73]
30.9.3 Rett syndrome                         Yes             No

30.9.4 Down syndrome                         Yes             No

30.9.5 Other syndrome 1 (specify):


30.9.6 Other syndrome 2 (specify):


30.9.7 Other syndrome 3 (specify):


30.9.8 Other syndrome 4 (specify):


30.9.9 Other syndrome 5 (specify):



31     Research

31.1   Have you ever been invited to take part in research related to your child’s chromosome disorder
                                                                            Yes           No

31.1.1 If YES, please write the name of the researcher/ hospital, institution




31.2   Would you consider taking part in (further) research into the syndrome?             Yes             No

32     Any other information you would like to include
       (attach more pages, reports, studies, photographs, short video clips etc. as necessary, but only copies
       please –NO originals.)




                                                     [74]
[75]
             Please send the completed questionnaire to:

                       b.foley1@ntlworld.com

                             or by post to

                             Brian Foley
                          50 Somerton Road
                               Belfast
                           Northern Ireland
                              BT15 3LG

Please only send COPIES not originals of any scans, test results, dvds,
               photos etc. that you may wish to include.

      Thank you for taking the time to fill in the questionnaire.




                                  [76]

								
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