The Possible Relationship of Heparan Sulfate and Nerve Cell Function to Neurological Clinical Symptoms in patients with Multiple Hereditary Exostoses
ID #__________
Please check off all items that apply.
(A) This response is for:
o yourself (i.e., you are an MHE patient yourself)
Your gender ________; your age ________; approximate number of exostoses ("bumps") you have had (including surgically removed ones) ________; number of MHE surgeries ________; Date of most recent surgery: __________
o a patient in your family (For example, parent/guardian of an MHE patient and responding to this questionnaire on his/her behalf)
Patient’s gender ________; patient’s age ________; approximate number of exostoses ("bumps") he/she has had (including surgically removed ones) ________; your relationship with the patient _______________; number of MHE surgeries ________; Date of most recent surgery:__________
(B) Check for each item below if you/your child has following problems in muscle and physical strength.
o Show fatigability (to get tired easily).
o Fatigue affects your ability to function on a daily basis.
o Cannot walk more than several city blocks (~a quarter mile) without taking a rest.
o Cannot ascend stairs (two stories) without taking a rest.
o Legs occasionally give way when walking some distance.
o Fatigue when lifting and carrying heavy objects, such as book bag, grocery bags, children, etc.
o Cannot do push-up.
Do any exostoses or complications thereof (including bowed or shortened limbs) interfere with ability to do push-ups? Yes ___ No ___
o Cannot do sit-up.
Do any exostoses or complications thereof (including bowed or shortened limbs) interfere with ability to do sit-ups? Yes ___ No ___
o Cannot stand on one leg more than 30 seconds.
o Cannot stand on tiptoes.
o Cannot stand on heels.
Do any exostoses or complications thereof (including bowed or shortened limbs) interfere with ability to stand on one leg, on tiptoes, or on heels? Yes ___ No ___
o Occasionally experience muscle cramps. If yes, please indicate the region where you experience cramps frequently (hands, arms, shoulders, trunk, hip, thigh, calf, others ______________); how often you experience cramps _____________; and duration of cramping incidents ____________.
o Occasionally experience difficulties contracting (flexing) muscles.
o Occasionally experience difficulties relaxing muscles.
o My/his/her arms are very skinny compared with people of the same age.
o My/his/her legs are very skinny compared with people of the same age.
o My/his/her muscles are weak.
o My/his/her muscles generally lack muscle tone.
o My/his/her muscles show signs of atrophy/wasting. If yes, please indicate the region where such changes are apparent (hands, arms, shoulders, trunk, hip, thigh, calf, others ______________).
Was surgery performed on the region showing signs of atrophy? _____. If yes, when? _______
o Body weight _________ lb
o Height ____ feet _____ inch
o If you have measured your grip strength using a dynamometer, please indicate with the unit (i.e., kilograms or lb). Right hand ____________; Left hand ______________
(C) Check if you or your child has been diagnosed with any of the following disorders.
o RSD (Reflex sympathetic dystrophy)
o Neuropathic pain or any kinds of neuropathy
Please indicate if the onset of either of these disorders followed MHE surgery _________
________________________________________________________________________
Have you been diagnosed with compression of nerves by exostoses in the affected areas?
________________________________________________________________________
(D) Check for each item below if you/your child have such an eye problem.
o Wear eyeglasses for the correction of myopia (nearsightedness). If yes, when did you/your child begin wearing glasses? _____________years of age
o Wear eyeglasses for the correction of hyperopia (farsightedness). If yes, when did you/your child begin wearing glasses? _____________years of age
o My/his/her visual acuity of either eye is less than 20/20 even after wearing eyeglasses.
o Difficulty in walking in a dark room (night blindness).
o Eye lid ptosis (drooping eyelids)
o Crossed eyes (Strabismus)
o Lazy eye
o Unequal pupil sizes (one pupil larger than the other)
o Amblyopia (dimness of vision)
o Cataract
o Glaucoma
o Retinitis pigmentosa (retinary pigmentary degeneration)
o Retinal detachment
o Eye malformation
(E) For children and adults, please check off each item below if you or your patient displays or has displayed any of the following behaviors.
o Excessive fidgeting (behaving or moving nervously or restlessly, such as inability to sit still or need to use hands (tapping fingers, playing with objects, etc.)
o Insistence on sameness: resists changes in routine.
o Severe language deficits (speech absence or delay)
o Difficulty in expressing needs; uses gestures or pointing instead of words.
o “Echolalia” (repeating words or phrases in place of normal language)
o Laughing, crying, or showing distress for reasons not apparent to others
o Prefers to be alone; aloof manner
o Tantrums; displays extreme distress for no apparent reason
o Difficulty in mixing with other children
o May not want cuddling or act cuddly
o Makes little or no eye contact
o Unresponsive to normal teaching methods
o Sustained odd play
o Likes to spin objects
o Inappropriate attachment to objects
o Apparent oversensitivity or undersensitivity to pain
o No real fear of dangers
o Noticeable physical overactivity or underactivity
o Not responsive to verbal cues; act as if deaf
o Uneven gross/fine motor skills (may not kick a ball but can stack blocks)
o Dislike of place where many people are
o Appears to be oblivious or unaware of others including parents
o Self-injurious behavior
o Aggressive to others
o Irregular sleeping hours
o Extreme dislike of certain sound, fabric or texture
o Strong gag reflex
o Picky eater; extreme like/dislike of certain food
o Aversion to certain foods because of their texture
o Preference for certain foods because of their texture
o Repetitive behavior; flapping hands, etc.
o Walking on tiptoes
o Ignore toy function or game rule
(F) Instructions: Adults - Please check off boxes for any of following that applied when you were a student or apply now. Students – If child is old enough to read and understand the following, the student should check off the statements that apply in this section by his or herself. If child is not able to read and comprehend yet, parent or guardian should ask the questions and record the child’s answers.
Reading
o Reading is something I like to do.
o Reading is something I have to do.
o I’m a good reader.
o I have trouble sounding out each word.
o I sometimes skip words or lines or read the same lines twice.
o When I get to the end of the page or chapter, I don’t know what I’ve read.
o I get papers back and find that I misread questions or instructions.
o I have difficulties with word problems in math.
Writing
o I have good handwriting.
o My handwriting is often illegible.
o I prefer to print.
o I prefer to write in cursive.
o I cannot write as fast as I think.
o When I look at what I have written I see errors in spelling, grammar, punctuation, or capitalization.
o I can copy material from the board quickly enough.
o I can take notes as the teacher is talking.
o I can write an organized paper, expressing clear, good thoughts.
o I have exostoses on my fingers and/or wrists.
Math
o I understand what the teacher is doing.
o I know the times table.
o I make mistakes, like writing “21” for “12”, or put numbers in the wrong column.
o I have trouble with word problems.
Sequencing
o When I speak or write, I sometimes have trouble getting everything in the right order.
o I have trouble using the dictionary and remembering the order of the alphabet.
Abstraction
o I understand jokes that people tell me.
o I sometimes get confused when I hear something.
o Sometimes people say that I did not understand what they said.
Organization
o I lose or forget things.
o I do my homework but forget to turn it in.
o I have difficulty organizing my thoughts when I speak.
o I have difficulty organizing my thoughts when I write.
o I have problems planning time so things get done.
Memory
o I can learn something at night but forget what I’ve learned when I go to school the next day.
o I learn best by listening.
o I learn best by reading.
(G) The following questions apply only for adult (age 18 or older) MHE patients who are responding for him/herself
o I find social situations confusing.
o I find it hard to make small talk.
o I did not enjoy imaginative story-writing at school.
o I am good at picking up details and facts.
o I find it hard to work out what other people are thinking and feeling.
o I can focus on certain things for very long periods.
o People often say I was rude even when this was not intended.
o I have unusually strong, narrow interests.
o I do certain things in an inflexible, repetitive way.
o I have always had difficulty making friends.
(H) The following questions apply only for child (age 17 or younger) MHE patients. [Please indicate the degree of the symptom by circling the appropriate number on the scale of 0 to 6.]
o My child has been tested for learning disabilities.
o My child has been diagnosed with a learning disability. If checked, at what age or grade was your child diagnosed? _______
o Does child lack an understanding of how to play with other children? (Ex. Unaware of the customary rules of social play?): (Rarely) 0 1 2 3 4 5 6 (Frequently)
o When free to play with other children, such as school lunchtime, does the child avoid social contact with them? For example, finds a secluded place or goes to the library.
(Rarely) 0 1 2 3 4 5 6 (Frequently)
o Does child appear unaware of social conventions or codes of conduct and make inappropriate actions and comments? For example, making a personal comment to someone but the child seems unaware of how the comment could offend. (Rarely) 0 1 2 3 4 5 6 (Frequently)
o Does child lack empathy, i.e. the intuitive understanding of another person’s feelings? For example, not realizing an apology would help the other person feel better.
(Rarely) 0 1 2 3 4 5 6 (Frequently)
o Does child seem to expect other people to know their thoughts, experiences and opinions? For example, not realizing you could not know something because you were not with the child at the time. (Rarely) 0 1 2 3 4 5 6 (Frequently)
o Does child need an excessive amount of reassurance, especially if things are changed or go wrong? (Rarely) 0 1 2 3 4 5 6 (Frequently)
o Does child lack subtlety in their expression of emotion? For example, the child shows distress or affection out of proportion to the situation. (Rarely) 0 1 2 3 4 5 6 (Frequently)
o Does child lack precision in their expression of emotion? For example, not understanding the levels of emotional expression appropriate for different people.
(Rarely) 0 1 2 3 4 5 6 (Frequently)
o Is the child interested in participating in competitive sports, games and activities?
(Rarely) 0 1 2 3 4 5 6 (Frequently)
o Is child indifferent to peer pressure (Ex. Does not follow the latest craze in toys or clothes).
(“0”means the child follows crazes). (Rarely) 0 1 2 3 4 5 6 (Frequently)
o Does the child take a literal interpretation of comments? (Ex. is confused by phrases such as “pull your socks up,” “looks can kill” or “hop on the scale”.)
(Rarely) 0 1 2 3 4 5 6 (Frequently)
o Does the child have an unusual tone of voice? (Ex. The child seems to have a “foreign” accent or monotone that lacks emphasis on key words) (Rarely) 0 1 2 3 4 5 6 (Frequently)
o When talking to the child does he or she appear uninterested in your side of the conversation? (Ex. Not asking about or commenting on your thoughts or opinions on the topic)
(Rarely) 0 1 2 3 4 5 6 (Frequently)
o Is child’s speech over-precise or pedantic? (Ex. talks in a formal way or like a walking dictionary.) (Rarely) 0 1 2 3 4 5 6 (Frequently)
o Does child have problems repairing a conversation (Ex. When child is confused, does not ask for clarification but simply switches to a familiar topic or takes an extremely long time to think of a reply) (Rarely) 0 1 2 3 4 5 6 (Frequently)
o Is your child on grade level for mathematics? ___ Below grade level ___ On grade level __ Above grade level. If below, please indicate how much below ___________________________
o Is your child on grade level for reading? ___ Below grade level ___ On grade level __ Above grade level. If below, please indicate how much below ___________________________
o Does child read books primarily for information, not seeming to be interested in fictional works? (Ex., being an avid reader of encyclopedias and science books but not keen on adventure stories). (Rarely) 0 1 2 3 4 5 6 (Frequently)
o Does child have an exceptional long-term memory for events and facts? (Ex. Remembering neighbor’s license plate number of several years ago, or clearly recalling scenes that happened many years ago). (Rarely) 0 1 2 3 4 5 6 (Frequently)
o Does child lack social imaginative play? (Ex. Other children are not included in the child’s imaginary games or the child is confused by pretend games of other children).
(Rarely) 0 1 2 3 4 5 6 (Frequently)
o Is child fascinated by a particular topic and avidly collects information or statistics on that interest? (Ex. Child becomes a walking encyclopedia of knowledge on vehicles, maps or
League tables) (Rarely) 0 1 2 3 4 5 6 (Frequently)
o Does child become unduly upset by changes in routine or expectation? (Ex. Is distressed by going to school by different route). (Rarely) 0 1 2 3 4 5 6 (Frequently)
o Does child develop elaborate routines or rituals that must be completed? (Ex. Lining up toys before going to bed). (Rarely) 0 1 2 3 4 5 6 (Frequently)
o Does child have poor motor coordination? (Ex. Not skilled at catching a ball).
(Rarely) 0 1 2 3 4 5 6 (Frequently)
If yes, does child have exostoses in upper body that might be affecting motor coordination? Yes____ No____ Not Sure _____
o Does child have an odd gait when running? (Rarely) 0 1 2 3 4 5 6 (Frequently)
If yes, does child have exostoses in lower half of his/her body that might be affecting gait? Yes____ No___ Not Sure ___
For this section, check whether child has shown any of the following characteristics
o Unusual fear or distress due to:
___ ordinary sound, e.g. electrical appliances
___light touch on skin or scalp
___ wearing particular item of clothing
___ unexpected noises
___ seeing certain objects
___ noisy, crowded places, e.g. supermarkets
o Tendency to flap or rock when excited or distressed
o Lack of sensitivity to low levels of pain
o Late in acquiring speech
o Unusual facial grimaces
(I) Check if you or your child has been diagnosed with any of the following disorders.
o Autism
o ADD (Attention deficit disorder)/ADHD(Attention deficit hyperactivity disorder)
o Asperger syndrome
o Schizophrenia
o Bipolar disorder
o Major depression
o Anxiety disorder
o Please list any other medical conditions or diagnoses:__________________________
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If you are unsure about any of the above questions, please feel free to contact me for further clarification. In addition, Dr. Yamaguchi is interested in not only overt, but also subtle abnormalities. In other words, information on parents’ observations on personalities and traits of children is as useful as established diagnosis made by physicians. Please use the space below for your comments and observations: _______________________________________________________________________
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Please fill in and sign the attached form and send with this completed questionnaire to: Sarah Ziegler, National Director and Coordinator of Research, The MHE Coalition, 149-34 16th Road, Whitestone, NY 11357. If you have any questions, please call Sarah at 718-747-1701, cell phone: 917-841-2217, or email at dinosarah@prodigy.net
Questionnaire Cover Form - Please print, fill in and sign, and mail with this questionnaire.