9q34.3 Deletion syndrome
(also known as chromosome 9q subtelomere deletion syndrome, 9qSTDS, CHOMS,
9q34 deletion syndrome, deletion 9qter syndrome, hapE1 syndrome, 9q- syndrome)
1.1 Contact details
1.1.1 Contact name(s)
1.1.3 Post code / Zip code
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
3.1.1 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.
4.1 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.
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)
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)
6.3.1 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)
6.4.1 Long eyelashes Yes No
6.4.2 Short Eyelashes Yes No
6.4.3 Other eyelash anomalies (specify)
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
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)
6.6.1 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)
6.7.1 Cupid’s bow shape upper lip Yes No
6.7.2 Everted lower lip Yes No
6.7.3 Thin lips Yes No
6.7.4 Other lip anomalies (specify)
6.8.1 Low set ears Yes No
6.8.2 Crumpled ears Yes No
6.8.3 Other ear anomalies (specify)
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
6.10.4 Other feature 1 (describe)
6.10.5 Other feature 2 (describe)
6.10.6 Other feature 3 (describe)
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?
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
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)
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)
8.1 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?
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 ?
8.4.1 If Yes, when would this be noticeable? (e.g. All the time, only after a meal, only when (s)he is
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
9 Body systems
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)
9.1.13 Has your child had any imaging or other investigations of the heart? Yes No
18.104.22.168 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?
9.2.1 Has your child had any seizures (fits)? Yes No
If Yes, describe below
Type of seizure Age Treatment Well controlled?
22.214.171.124 Infantile spasms
126.96.36.199 Febrile convulsions
188.8.131.52 Absence seizures
Type of seizure Age Treatment Well controlled?
184.108.40.206 Grand mal seizures
220.127.116.11 Atonic (drop) seizures
18.104.22.168 Complex partial seizures
22.214.171.124 Simple partial seizures
126.96.36.199 Nocturnal seizures
188.8.131.52 Lennox Gastaud syndrome
184.108.40.206 Other type of seizure 1 (describe)
220.127.116.11 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
9.2.3 Has your child had any imaging or other investigations of the head or brain? (E.g. MRI, CAT or
18.104.22.168 If YES please describe
Age Type of scan Results
22.214.171.124 Would you be willing to share these scans with researchers? Yes No
9.3 Tonsils/adenoids and sleep apnoea
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
9.4.2 Hay Fever
9.4.3 Cystic Fibrosis
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
126.96.36.199 If Yes
Age Type of Infection (if known) Treatment (if any) Response
188.8.131.52 Does your child still have respiratory infections? Yes No
184.108.40.206.1 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
220.127.116.11 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
18.104.22.168 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
22.214.171.124 If YES
Age when diagnosed Treatment (if any) Outcome
9.5.2 Urinary Reflux Yes No
126.96.36.199 If YES
Age when diagnosed Treatment (if any) Outcome
9.5.3 Other kidney, bladder or urinary system disorder 1. (Specify):
188.8.131.52 Age when diagnosed Treatment (if any) Outcome
9.5.4 Other kidney, bladder or urinary system disorder 2. (Specify):
184.108.40.206 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
220.127.116.11 If YES
Age Type of Infection Treatment Response
9.5.5 Does your child still have kidney/bladder/urinary infections? Yes No
18.104.22.168 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
22.214.171.124 If YES, please describe
Age Investigation Result Treatment (if any) Outcome
9.6 Stomach & Bowels
9.6.1 Has your child been diagnosed with a Hernia Yes No
126.96.36.199Was the hernia: inguinal umbilical other (specify):
188.8.131.52 Age Treatment (if any) Outcome
9.6.2 Has your child been diagnosed with Pyloric stenosis Yes No
184.108.40.206 If Yes,
Age Treatment (if any) Outcome
9.6.3 Has your child been diagnosed with Duodenal atresia Yes No
220.127.116.11 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
18.104.22.168 If Yes,
Age Treatment (if any) Outcome
9.6.5 Has your child had any other gastrointestinal disorder (eg severe vomiting, reflux)? Yes No
22.214.171.124 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
126.96.36.199 If YES
Age Investigation Result Treatment (if any) Outcome
9.6.7 Does/has your child have/had a problem with constipation? Yes No
188.8.131.52 If YES at what age did the problem begin?
184.108.40.206 Describe how constipation has effected your child
220.127.116.11 What treatments/therapy/surgery has been tried?
Age Treatment/therapy Outcome
9.6.8 Does/has your child have/had a problem with diarrhoea? Yes No
18.104.22.168 If YES at what age did the problem begin?
22.214.171.124 Describe how diarrhoea has effected your child
126.96.36.199 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
188.8.131.52 If YES please describe
9.6.10 Has your child been diagnosed with bacterial overgrowth of the small intestines? Yes No
184.108.40.206 If YES, please describe including age when diagnosed
9.6.11 Has your child been diagnosed with any other stomach/bowel disorder? Yes No
220.127.116.11 If YES, please describe including age when diagnosed
9.7.1 Is your child potty/toilet trained? Yes No
18.104.22.168 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
22.214.171.124.1 Urine only
126.96.36.199.2 Faeces only
188.8.131.52.3 Both Urine & faeces
9.8 Genital area
9.8.1 Does your child have any unusual features in the genital area? Yes No
184.108.40.206 If YES what are they? (include undescended testicles in boys)
220.127.116.11 What treatment/therapy (if any) has been offered?
18.104.22.168 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
22.214.171.124 If NO, does your child have a high palate? Yes No
9.9.2 How has this affected 1. feeding?
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
126.96.36.199 If YES, please describe
9.10 Hands and feet, skin and nails
9.10.1 Hands (including fingernails)
188.8.131.52 Are your child’s fingernails unusual? Yes No
184.108.40.206.1 If YES please describe (e.g. soft, brittle, thick, turning in, flaking, an unusual shape)
220.127.116.11 Does/did your child have fatty pads on his/her fingers or on other parts of his/her hands
18.104.22.168 Does your child have a single palmar transverse crease (sometimes called a Simian crease) on
the palms of his/her hands?
22.214.171.124 Are your child’s hands unusual in any other way? Yes No
126.96.36.199.1 If Yes, please describe all unusual features
9.10.2 Feet (including toenails)
188.8.131.52 Are your child’s toenails unusual? Yes No
184.108.40.206.1 If YES please describe (e.g. soft, brittle, thick, turning in, flaking, an unusual shape)
220.127.116.11 Does/did your child suffer from flat feet (Pes planus, fallen arches)? Yes No
18.104.22.168.1 If YES what treatment /therapy has been used and how successful has it been?
22.214.171.124 Does/did your child wear orthotics, piedro boots or other specialist footwear? Yes No
126.96.36.199.1 If YES please describe
188.8.131.52 Does/did your child have fatty pads on his/her toes or on other parts of his/her feet ? Yes No
184.108.40.206 Are your child’s feet unusual in any other way? Yes No
220.127.116.11.1 If Yes, please describe all unusual features
18.104.22.168 Does your child’s skin appear unusual in any way? Yes No
22.214.171.124.1 If YES please describe (e.g. very hairy, hairless, patches of lighter pigmentation, very dry,
flaky, oily, psoriasis, eczema, prone to boils etc)
126.96.36.199.2 Have any special treatments/therapies been necessary? Yes No
188.8.131.52.2.1 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
184.108.40.206 Autistic tendencies/Autistic Traits Yes No
220.127.116.11 Autism Yes No
18.104.22.168 ASD (Autism Spectrum Disorder) Yes No
22.214.171.124 PDDNOS (Pervasive Development Disorder Not Otherwise Specified) Yes No
126.96.36.199 Other similar disorder (please specify)
Does your child exhibit any of the following:
188.8.131.52 Sterotypies/stimming e.g. waving a hand in front of his/her face, running sand/beans/peas
continually through his/her hands Yes No
184.108.40.206 Have a fascination with fans or other similar spinning objects. Yes No
220.127.116.11 Lack of imaginative play with other children Yes No
18.104.22.168 Repeating mode where he/she will repeat a phrase/word/song/sound over and over Yes No
22.214.171.124 A heavy reliance on routines and structure Yes No
126.96.36.199 Avoidance of looking directly at tasks/people Yes No
188.8.131.52 Sudden changes in lighting causing fear/behavioural problems Yes No
184.108.40.206 Phobias of / fascination with specific sounds e.g. telephone ringing Yes No
220.127.116.11 Role play with self/talking/singing to self Yes No
18.104.22.168 Eye rolling upward Yes No
22.214.171.124 Facial or vocal tics Yes No
126.96.36.199 Periods of unexplained staring Yes No
188.8.131.52 Difficulty coping with change Yes No
184.108.40.206 Echolalia (repeating back what you have said) Yes No
220.127.116.11 Echopraxia (copying your movements) Yes No
18.104.22.168 Walking around on tiptoes Yes No
22.214.171.124 Swapping between right and left handedness Yes No
126.96.36.199 Extremely passive behavior Yes No
188.8.131.52 Extremely active behavior Yes No
184.108.40.206 Dislike of certain textures Yes No
220.127.116.11 Does not seek cuddles and hugs Yes No
18.104.22.168 Repetitive behaviours Yes No
22.214.171.124 An eye for minute details Yes No
126.96.36.199 Preferring to play “in their own world” Yes No
188.8.131.52 Laughs inappropriately (e.g. when someone is hurt) Yes No
184.108.40.206 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
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
Has your child shown evidence of any periods of amnesia (e.g. not recognizing familiar people/places)
220.127.116.11 If Yes, please describe
9.11.4 Other Behaviours
18.104.22.168 Describe your child’s behaviour on a “normal” day.
22.214.171.124 Describe your child’s behaviour on a “challenging” day.
126.96.36.199 Has your child exhibited any self injurious behavior (e.g. head banging, pulling own hair
out, biting back of his/her hand) YES NO
188.8.131.52.1 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):
184.108.40.206 Digging into/tearing nappies
220.127.116.11 ADD/ADHD (Attention Deficit (Hyperactivity) Disorder)
18.104.22.168 Biting others
22.214.171.124 Hair pulling of others
126.96.36.199 “Doing a Hulk, for no obvious reason”
188.8.131.52 Bouts of prolonged screaming
184.108.40.206 Throwing things / wrecking the house
220.127.116.11 Fear of lifts (elevators)
18.104.22.168 Other phobias and anxieties (please describe including age of onset, and when (if) resolved)
22.214.171.124 Does your child have any other behaviours you find difficult? (For example, other
challenging behaviour, shyness, restlessness, passivity, inappropriate friendliness). YES NO
126.96.36.199.1 If Yes, please describe the behaviors, including age of onset:
188.8.131.52 Describe any management advice you have received for your child’s behaviours that proved
184.108.40.206 Describe any therapy you have received for your child’s behaviours that proved helpful.
220.127.116.11 Has your child been prescribed medication to help their behaviour? YES NO
18.104.22.168.1 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
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
22.214.171.124 If Yes, please describe including name of disorder, age, treatments and outcomes
9.14.1 Has your child been diagnosed with any cancer? Yes No
126.96.36.199 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
188.8.131.52 If Yes, please describe
Age Treatment Outcome
9.15.2 Has your child been diagnosed with hypoparathyroidism? Yes No
184.108.40.206 If Yes, please describe
Age Treatment Outcome
9.15.3 Has your child been diagnosed with any other disorder of the endocrine system? Yes No
220.127.116.11 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
18.104.22.168 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
22.214.171.124 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
126.96.36.199 If Yes, please give results (including age of child for each blood test)
9.17 Orthopaedic disorders
9.17.1 Does your child have scoliosis (curvature of the spine)? Yes No
188.8.131.52 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
184.108.40.206 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
220.127.116.11 If Yes please give measurements and describe treatments
Age Measure of kyphosis Treatment/therapy (if any) and outcome
9.17.4 Does your child have any other orthopaedic disorders? Yes No
18.104.22.168 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
22.214.171.124 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
126.96.36.199 If Yes please describe including treatment received (if any) and any outcome
9.18.3 Does your child have any other disorder of his/her musculature/connective tissue? Yes No
188.8.131.52 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)
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
184.108.40.206 If YES at what age were they diagnosed as blind?
Does/did your child have any of the following vision problems?
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)
9.20.11 Other vision problem (2)
9.20.12 Other vision problem (3)
9.20.13 Does your child wear glasses? Yes No
220.127.116.11 If YES, at what age did (s)he start wearing glasses?
18.104.22.168 If YES, describe any approach that helped your child adjust to wearing glasses
9.21.1 Has your child been diagnosed with a hearing impairment? Yes No
22.214.171.124 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
9.21.3 How are any hearing problems managed? (e.g. hearing tubes (Grommets), hearing aids, special
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
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
9.21.2 Please describe including age when noticed, and any treatments/therapies you have tried.
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)
126.96.36.199 Does your child grind his/her teeth? YES NO
188.8.131.52.1 If YES is this teeth grinding while awake only YES NO
184.108.40.206.2 teeth grinding while asleep only YES NO
220.127.116.11.3 teeth grinding while both awake and asleep YES NO
18.104.22.168.4 At what age did the teeth grinding begin?
22.214.171.124.5 Describe any treatments you have tried and their outcome.
If your child has reached puberty, please describe it and say whether it proceeded as expected. Note any
behavioural changes not already mentioned.
11 Later Life:
If applicable note any changes that occurred as your child entered his/her
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
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)?
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
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
Age Medical Condition Treatment/therapy Outcome
Age Medical Condition Treatment/therapy Outcome
15 General wellbeing
15.1 Tell us about your child’s general health and wellbeing.
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
18.1 Drug/Supplement history
What medicines (if any) has your child taken in the past? Include any remedies that you buy without a
Age Medicine/Remedy Reason for medicine/remedy Effect (if any)
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
Age Name of drug/supplement/therapy Dosage Reaction
19 Other personal care
19.1 Can (s)he passively assist with personal care such as toileting? (i.e. not struggling against you)
19.2 Can (s)he actively assist with personal care such as toileting? (e.g. by wiping his/her bottom)
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?
19.8 How much help does s/he need during the night?
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
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
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
126.96.36.199 If Yes please describe
20.20.2 Has any form of therapy/intervention made a difference to the ability of your child to
Yes No Don’t know
188.8.131.52 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.
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?
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
22 Play and sociability
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.)
22.1.1 Could you describe how your child played at different ages?
Age Play (if any)
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
184.108.40.206 If Yes, please describe including what age any change occurred
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
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)?
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
23.11 Does/did your child take sleep medication? YES NO
23.11.1 IF YES, please specify
Sleep Medication Age Dosage Outcome
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?
25 Services and interventions Describe the main interventions and therapies your child has received
Therapy Age Aim Outcome
25.3 Speech therapy
25.4 Massage therapy
25.5 Play therapy
25.6 Music Therapy
25.7 Hippo therapy (horse therapy)
Therapy Age Aim Outcome
25.10 Swim therapy
25.12 Vital Stim. Therapy
25.13 Craniosacral therapy
(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)
25.23 Other therapy 3 (specify)
25.24 Other therapy 4 (specify)
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.)
27.1 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?
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.
29.1 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)
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
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
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):
31.1 Have you ever been invited to take part in research related to your child’s chromosome disorder
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.)
Please send the completed questionnaire to:
or by post to
50 Somerton Road
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.