INDIVIDUAL PLAN: Present

Individual Planning Process
First appointment
with GP for tests (e.g.
blood, urine etc)
Primary Carer to
complete Assessment of
Observed Changes
Form
(Part A)
Second appointment
with GP to complete
Health Assessment
Form
(Part C)
Primary Carer to
complete Health
Assessment Form
(Part B)
Incorporating relevant
information from parts A, B & C
Primary Carer to compete draft
Individual Plan (PART D) with
resident.
Meeting of Key
Stakeholders to finalise
individual plan with/for
the RESIDENT
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Primary Carer to complete:
1) Resident Profile
2) Lifestyle Action Plan
3) Medical Action Plan
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INDIVIDUAL PLAN
PART A
Assessment of
observed changes
RESIDENTS NAME
ADDRESS
COMMENCEMENT DATE
REVIEW DATE
PERSON COMPLETING FORM
Limited use - restricted to i.d.entity.wa clients - not to be distributed outside of the organisation
Acknowledgement to Minda Incorporated
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RESIDENT INFORMATION
Name:
Age:
Date of Birth:
Gender:
Date of THIS Assessment:
Date of PREVIOUS Assessment:
Date of NEXT Assessment:
Resources Used:
 Report books
 Specific Recording Charts (seizure
charts, behaviour recordings)
 Family/Carer History Feedback (medical
background, old behaviours reoccurring)
 Other
Compiled By:
SCALE
Y (Yes)
N (No)
A (Always)
There has been a change in the person’s abilities/behaviour during
the last twelve months
There have been no changes in the person’s abilities/behaviours in
the last twelve months
The person always required support in this area owing to intellectual,
physical or sensory impairments
KEY POINTS
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
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
Comparison of previous assessment & current assessment highlight changes
The changes highlighted will then give direction for intervention required
Intervention required may be from medical professions, specialists such as
neurologists, clinical psychologists, psychiatrists, specific blood tests etc
Complete PARTS B & C of the Health Assessment Form
Make necessary appointments
These components to be transferred into the Individual Plan for goals/strategies
to be compiled & followed through
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ASSESSMENT OF OBSERVED CHANGES
Note any CHANGES observed in the following areas using the scale provided.
Provide further explanations if necessary in the "Comments" area. Ask "Has the
person / does the person/ is the person ..:..?
SECTION 1 HEALTH
Eating habits
1. Eat less
2. More fussy about food
3. Begun to prefer sweet food
4. Eat inedibles
5. Excessive thirst
Y/N
Comments – Baseline
Sleeping pattern
6. Sleep more during day
8. Lose consciousness
9. Insomnia-sleeps little
Y/N
Comments – Baseline
Digestion
10. Complains of pain after meal
11. Vomit
Y/N
Comments – Baseline
Breathing
12. Difficulty breathing in everyday
routine
13. Difficulty breathing after unusual
exertion
14. Shallow breath, puff
15. Breathe noisily, wheeze
16. Cough persistently
Y/N
Comments – Baseline
Circulation
17. Cold hands/feet
18. Skin is unusual colour (red, blue)
Y/N
Comments – Baseline
Bladder
19. Incontinent
20. Urinate frequently
21. Urine of unusual colour/odour
22. Frequent urinary tract infection
Y/N
Comments – Baseline
Bowel habits
23. Difficulty using bowels
24. Incontinent of faeces
25. Faeces unusual colour / odour /
consistency
Y/N
Comments – Baseline
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Skin
26. Skin easily damaged / bruised /
marked
27. Changes in wart/mole/growth
28. Lumps have developed/changed
Y/N
Comments - Baseline
Infection
29. More prone to infection
30. Longer than usual recovery
31. Onset of seizures
Y/N
Comments - Baseline
# YES
# NO
Previous Review
Current Review
Changes
SECTION 2 PHYSICAL COMPETENCIES
Y/N
Comments – Baseline
32. Less able to roll over & get out of
bed
33. Less able to sit/stand upright
34. Less able to use arms/hands during
physical activity
35. Less able to walk, climb steps
36. More likely to lose balance,
stumble, fall
37. Change in way the person walks
38. Increased difficulties in eating,
swallowing, choking, gagging, spillage
39. Increased difficulty in manipulating
small items in fingers eg buttons,
spoon, toothbrush.
40. Increased difficulty turning on & off
taps, turning doorknobs.
41. More likely to drop items.
# YES
Previous Review
Current Review
Changes
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# NO
SECTION 3 SENSORY INTEGRATION
Y/N
Comments - Baseline
42. Holds items at unusual
distance (too close, too far away).
43. Shows less reaction to objects
moving towards him/her.
44. Squints more often.
45. Less able to move around objects.
46. More tentative when negotiating
steps/surfaces.
47. Less able to walk in the dark.
48.Less responsive to normal
speaking voice.
49. Less able to follow a verbal
request. .
50. Shows changing responses to
noises.
51. Change in volume of speech (talks
louder).
52. More likely to repeat questions
as if he/she has not heard the
answer.
SENSORY INTEGRATION COMPETENCY
# YES
# NO
Previous Review
Current Review
Changes
SECTION 4 PERCEPTUAL COGNITIVE
Y/N
53. Less aware of own name.
54. Less able to recognize familiar
people, objects, places.
55. Less able to find familiar places in
the house
56. Less able to move from one room
to another for a purpose
57. Less able to understand what is
happening when in an unfamiliar
environment
58. Less able to distinguish an object &
its use eg toothbrush – teeth cleaning,
cup - drinking, shoes – wearing on feet
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Comments- Baseline
Y/N
Comments -Baseline
59.Less able to follow normal
sequence of daily routine
60. Less able to cope with changes to
daily routines
61. Less able to predict what happens
on different days of the week
62. Less able to recall familiar
sequences involved in tasks such as
dressing, showering, toileting, eating
63.Less able to recall recent
events, within the hour/day
64. More likely to behave
inappropriately in an unusual
situation
65. More likely to exhibit private
behaviour in public places
66. More likely to place items in
inappropriate places
67. Displays an increase in possessive
behaviours about household property
68. Less able to find things that are in
their usual place
69. More likely to get lost in a familiar
place
70.Less able to learn something
new
71. Is easily confused when asked to
do two things in sequence
72. Abilities fluctuate from day to day
73. Less able to make simple choices
74. Become preoccupied with old
memories
75. More likely to talk about things
that happened long ago
# YES
Previous Review
Current Review
Changes
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# NO
SECTION 5 SOCIAL/EMOTIONAL
Y/N
76. More frequent mood changes
77. More withdrawn, quieter than usual,
less interested in usual activities
78. Shown less expression of emotion
eg does not smile, frown
79. Shows less initiative, motivation
80. More distressed, upset by everyday
events/interactions
81. More frustrated, annoyed by
everyday events/interactions,
worried/fearful
82.More likely to become angry
83. More likely to appear suspicious,
distrustful, accusing
84. Complain more about a variety of
topics
85. More self-centered
86. Less responsive to things
happening in the environment
87. Less responsive to people with
whom he/she has an established
relationship, ignoring, avoiding
88. Relates differently to people with
whom he/she has an established
relationship
89. More argumentative
90. More likely to repeat
statements/questions, regardless of
response in behaviours
91. More likely to move around
restlessly, not staying in one place for
long
92. More likely to wander away from
familiar locations & get lost
93. More likely to wander on
outings & get lost
94. More likely to wander during the
night instead of sleeping
95. More noisy & verbally abusive
96. Increased physical aggression to
people
97. More destructive toward objects
98. Less cooperative with usual
routine
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Comments - Baseline
Y/N
Comments - Baseline
99. Declining ability to understand what
is said
100.Declining ability to understand
what is happening in the environment
101.Says or repeats unusual or
nonsensical things
# YES
# NO
Previous Review
Current Review
Changes
SECTION 6 ACTIVITIES OF DAILY LIVING
(Has the person had declining/fluctuating skills in the following daily living
skills or has the person required more support in these areas?)
Y/N
Comments - Baseline
102.Personal hygiene tasks –
washing, shaving, dental care
103.Dressing,undressing and selecting
clothes
104.Grooming, brushing hair use of a
deodorant/make-up
105.Using the toilet
106 Eating, using cutlery, drinking
107.Preparing a simple drink, snack,
meal
108.Household tasks – making
bed, helping with dishes, laundry
109.Household safety and dangers –
using hot water, electrical appliances,
sharp objects, locking doors
110.Community safety & dangers –
road safety, travel skills, avoiding
strangers
111.Using community facilities – shop,
recreation facilities, bank, restaurant
112.Managing own money,
identifying coins/change, making
purchases
ACTIVITIES OF DAILY LIVING COMPETENCY
# YES
Previous Review
Current Review
Changes
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# NO
INDIVIDUAL PLAN
PART B
Carer
Health Assessment
RESIDENTS NAME
ADDRESS
COMMENCEMENT DATE
REVIEW DATE
PERSON COMPLETING FORM
Limited use - restricted to i.d.entity.wa clients - not to be distributed outside of the organisation
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Name:
Date of Birth:
General Practitioner:
Gender: Male / Female
STEPS STAFF ARE TO FOLLOW IN COMPLETING THIS DOCUMENT
1. Carer to attend G.P and make arrangements for blood tests to be done. Areas that
require testing are:






CHOLESTEROL
DIABETES
THYROID FUNCTION
MEDICATION LEVELS
LIVER FUNCTION
T-CELL COUNT
2. Assist resident to get their blood work done.
3. Carer to read through past year of medical treatment forms and gain relevant health
information from stakeholders
4. Carer to fill in part B of Health Assessment
5. Make a long appointment with residents usual G.P
6. Attend appointment taking booklet B and C. Ask G.P to fill out section C.
7. Ensure that Medical Action Plan is filled out and a copy placed in the residents
Personal Health Diary.
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To make an accurate medical assessment of the Resident's health, the doctor needs
to know about these signs and symptoms.
1. BREATHING SYSTEM (please or )





Does the Resident cough?
Does the Resident cough up blood?
Does the Resident cough up stuff/mucous/sputum?
Does the Resident get short of breath?
Does the Resident wheeze?
2. HEART SYSTEM (please or )





Does the Resident have chest pain?
Does the Resident's heart "race"/beat quickly?
Does the Resident's ankles swell?
Does the Resident get short of breath while lying in bed?
Does the Resident get blue skin, e.g. on fingers, lips, toes?
3. MUSCLES & JOINTS (please or )


Does the Resident have joint pain or back pain?
Does the Resident have muscle pain?
4. STOMACH & BOWEL SYSTEM (please or )


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
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
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Has the Resident lost weight?
Does the Resident have trouble swallowing?
Does the Resident regurgitate/vomit?
Does the Resident get "heart burn"?
Does the Resident have frequent diarrhoea?
Does the Resident have black bowel motions?
Does the Resident get constipated?
Does the Resident lose control of bowel movements?
Does the Resident have abdominal/ stomach pains?
5. URINARY SYSTEM (please or )



Does the Resident have pain when passing urine?
Does the Resident have blood in the urine?
Does the Resident urinate more than usual?
6. NERVOUS SYSTEM (please or ) (epileptic episodes are not included here)




Does the Resident faint?
Does the Resident get unsteady when walking?
Do the Resident's arms or legs become weak?
Does the resident have tingling or strange feelings?
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7.MEDICATIONS
(please take the primary medication chart & current p.r.n. chart with you to the resident's doctor)
Date
Names
Amount
started
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Times
Doctor
Reason
8. ALLERGIES
Please list any medications the Resident is allergic to and description of reaction:
9. EPILEPSY
During the Resident's life, has he/she had epileptic seizures? Yes / No
If YES please list the type and number of seizures during the last year, below.
Type of Seizures
Frequency of Seizures
Which health professional treats the epileptic seizures? (please or )



GP
Neurologist
Other
Month & year the Doctor last reviewed the Resident's epilepsy?
Since the previous review, have the seizures: (please or )



Become worse (increased in frequency / severity)
Same
Improved (decreased in frequency / severity)
10. HUMAN RELATIONS (please or )

Has the Resident ever been sexually active?
11. WOMEN'S HEALTH (please or )
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

Does the Resident have menstrual periods?
Does the Resident use Depo Provera?
Does the Resident take the oral contraceptive pill?
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Date of last period
Does the Resident have any of the following:
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Pre-Menstrual Tension?
Irregular periods?
Mid-cycle bleeds?
Painful periods?
Abnormal vaginal discharge?
Vaginal irritation (e.g. thrush)?
Menopausal symptoms (e.g. hot flushes)?
Women with a disability have the same reason for needing a Pap smear test as
women in the general population. A test every two years is recommended for
women (between 18 and 70 years) who have been sexually active.

Has the Resident had a Pap smear?
If YES When was the last test

If NO Does the Resident need a Pap smear?
If a Pap smear is required but has not been completed, please indicate why:



Resident distress
Pap smear planned
Other:
A mammogram should be arranged every 2 years for women over 50 years of
age, or women with a family history of breast cancer.



Does the Resident check her own breasts monthly?
If NO, Are the Resident's breasts checked by a GP?
Has the Resident ever had a mammogram?
If YES, When was the last mammogram?
If a mammogram is needed but has not happened, please indicate why:



Resident distress
Mammogram planned
Other:
12. MEN'S HEALTH (please or )


Does the resident have a discharge from their penis?
Does the resident have any sores or scars on his penis?
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Men with a disability have the same reason for needing a prostate test as men in
the general population. An annual prostate test is recommended for men over
50 years.

Has the Resident had a prostate test?
If YES When was the last test

Is one recommended?
If a prostate test is required but has not been completed, please indicate why:



Resident distress
Prostate test planned
Other:
THE REMAINING QUESTIONS ARE FOR ALL RESIDENTS
13. PROBLEM BEHAVIOURS (please or )

Does the Resident have any problem behaviours?
If YES Please describe the behaviours and any help the Resident receives for these
behaviours:
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14. MENTAL HEALTH (please or )

Does the Resident see a Psychiatrist
If YES please describe the psychiatric illness (if diagnosis has been made by the
psychiatrist) and any help the Resident receives for the condition:
15. VISION
 Does the Resident have a problem with vision
 Has the Resident ever been prescribed glasses
When was the last vision test?
What was the test used?
Who conducted the tests: Eye doctor / Ophthalmologist / GP / School Nurse / Unknown
Result of last vision test Normal / Unknown / Abnormality found: Please describe:

Do you suspect the Resident may have a problem with vision?
If YES please describe the problem/s you have observed:
16. HEARING

Does the Resident have a problem with hearing?
If YES please describe the problem/s you have observed:
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When was the Resident's last hearing test?
Who performed this test? Audiologist / GP / Other
Result of last hearing test: Normal / Unknown / Other

Does the resident wear a hearing aid ?
17. NUTRITION

Are there any concerns with diet
If YES please describe the problem/s you have observed:
18. SUMMARY OF HEALTH ISSUES
List any other concerns that you may have about the Residents health
PLEASE REMEMBER TO TAKE THIS BOOK (Part b), PREVIOUS TEST RESULTS
AND MEDICATION PROFILE TO THE APPOINTMENT WITH THE RESIDENTS
DOCTOR.
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INDIVIDUAL PLAN
PART C
Medical Practitioner
Health Assessment
RESIDENTS NAME
ADDRESS
COMMENCEMENT DATE
REVIEW DATE
PERSON COMPLETING FORM
Limited use - restricted to i.d.entity.wa clients - not to be distributed outside of the organisation
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FOR THE GENERAL PRACTITIONER
Thank you reviewing this Resident's health.
Name of Doctor _____________________
Date of visit to Doctor ____/____/____
A) Please review the history provided in pages 1-9.
B) The following list details of commonly neglected areas of health in this
population:










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

Hearing and vision impairment +/- unrecognised pathology
Incomplete immunization schedules
Health screens - BP, skin, breast, Pap smear
Obesity / Malnutrition
Over-use and inadequate review of Medication
Bowel management
Unrecognised reflux esophagitis / H. pylori infection / dyspepsia
Psychiatric assessment / management
Epilepsy assessment / management
Unrecognised pain or infections
Poor dental care
Unrecognised osteoporosis
Undescended testes / hypogonadism
Please perform a COMPREHENSIVE REVIEW of your patient's health:






Full physical examination
Vision and hearing
Review of previous blood and urine tests
Other tests you feel are indicated
Referals to Specialist’s
Please record your findings on the following
pages
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1. GENERAL
Height:
Weight:
Blood Pressure:
Pulse Rate:
cm
kg
If the Resident has a weight / blood pressure problem, please specify action taken:
Weight control: ___________________________________________________
Hypertension: ____________________________________________________
2. SYSTEMS CHECK (please complete comprehensive physical examination)
Cardiovascular
Respiratory
Musculo-Skeletal
Renal & Urogenital
Endocrine
Gastrointestinal
Nervous
Psychiatric Behavioural
SYSTEM CHECKED
YES
NO
YES
NO
YES
NO
YES
NO
YES
NO
YES
NO
YES
NO
YES
NO
NEW FINDINGS
3. WOMEN'S HEALTH
a. Was a breast examination undertaken? Yes / No
If NO - / Reason:
b. Was a Pap smear test taken / organised for the future? Yes / No
If NO - / Reason:
c. Does this woman require a mammogram? Yes / No
If YES, please include in the MEDICAL ACTION PLAN.
d. Does the woman require a bone density scan? Yes / No
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4. MEN'S HEALTH
a. Was the patient checked for undescended testicles? Yes / No
b. Action required:
c. Was the patient’s prostate checked? Yes / No
d. Action required:
5. VISION TEST
a. Was the patient's vision tested? Yes / No
b. If YES , what was the result: R)
L)
Unable to test - please give reason
c. Referred to Ophthalmologist / Optometrist:
6. HEARING TEST
a. Was the patient's hearing tested? Yes / No
b. If YES, what was the result?
R)
L)
Unable to test - please give reason
c. Referred to Audiologist / ENT Specialist:
7. SKIN STATUS
a. Was a complete skin examination undertaken Yes / No
b. Abnormalities found
c. Treatments prescribed:
8. DENTAL HEALTH
a. Is there obvious dental pathology? Yes / No
b. Does the Resident need dental assessment? Yes / No
C. Action required Yes / No
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9. IMMUNISATIONS
Are the following immunisations up to date?
a) Tetanus? Yes / No
If No, Booster indicated Yes / No // Booster given Yes / No
(It is recommended that Hepatitis B vaccination for all residents and staff of facilities
for people with disabilities)
b. Hepatitis B Yes / No
If No, Serology indicated Yes / No // Serology given
c. Hepatitis A Yes / No
If No, Serology indicated Yes / No // Serology given
d. Influenza Yes / No
e. Pneumococcus Yes / No
f. Other - Please specify:
9. RESPIRATORY
Does the client have respiratory issues
a. Asthma Yes / No
b. Sleep Apnea Yes / No
c. Aspirates on food or fluid Yes / No
d. Frequent chest infections Yes / No
e. Other – Please specify:
If yes to the above Treatment
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11. OUTCOME OF TEST RESULTS
Please tick boxes
DATE
OF TEST
TEST
RESULT
ACTION
Yes / No
REFERAL
Yes / No
Cholesterol
Diabetes
Thyroid
Liver
T- cell count
Medication Levels
NOTE. All required actions / referrals require information to be documented on the
MEDICAL ACTION PLAN
This booklet needs to be returned to the attending carer after this consultation. Can
you assist the carer / support staff to complete the MEDICAL ACTION PLAN on the
following page. When completed the carer / support staff is to keep a copy of the
MEDICAL ACTION PLAN.
THANK YOU FOR YOUR
ASSISTANCE
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SYNDROME SPECIFIC LIST FOR GENERAL PRACTITIONERS
ANGELMANN
SYNDROME
<1 : 10,000
AUDIOVISUAL
WILLIAMS
<1 : 20,000
RETT
1 : 14,000 FEMALES
NOONAN
<1 : 10,000
TUBEROUS
SCLEROSIS
1 : 6,000- 17,000
Retinal tumours
Eye rhabdomyomata
C.N.S.
Glaucoma
Refractory Errors
Strabismus, refractive errors
Vision / hearing impairments
Easily excitable Hyperactive
Variable intellectual capacity
Attention deficit problems in
childhood
Severe intellectual disability
Mild intellectual disability
Variable intellectual capacity
Behavioural difficulties
Sleep problems
Variable intellectual capacity
Severe developmental delay
Epilepsy
Perceptual & motor
function reduced
Epilepsy
Vasomotor instability
Epilepsy
Cerebral astrocytomas
Epilepsy
Variable clinical phenomena
depending on the site of the
tumours
Epilepsy
Cardiac abnormalities
Hypertension, CVA's
Chronic hemiparesis
Prolonged QT interval
Pulmonary Valvular Stenosis
ASD, VSD, PDA
Rhabdomyomata
Hypertension
Joint contractures
Scoliosis
Hypotonia
Osteopenia
Fractures
Scoliosis
CARDIOVASCULA
R
MUSCULAR /
SKELETAL
Joint contractures &
scoliosis (in adults)
OTHER
Speech Impairment
Movement & balance disorder
Characteristic EEG changes
Renal abnormalities
Hyperventilation
Apnoea
Reflux
Feeding difficulties
Growth failure
INHERITANCE
Variety of genetic
mechanisms on Chromosome
15
Micro deletion on Chromosome
7
Usually sporadic X linked
Scoliosis
Talipes equinovarus
Pectus Carinatum /
excavatum
Abnormal clotting factors,
platelet dysfunction
Undescended testes, deficient
spermatogenesis
Lymphadenoma
Hepatosplenomegaly
Cubitus valgus, hand
abnormalities
Autosomal dominant may be
sporadic
Bone Rhabdomyomata
Skeletal abnormalities
especially Kyphoscoliosis
Kidney & lung
hamartomata
Polycystic kidneys
Liver
Rhabdomyomata
Dental abnormalities
Skin lesions
Variable clinical phenomena
depending on the location of
the neurofibroma
Tumours are susceptible to
malignant change
Other varieties of tumours
may be associated
Autosomal dominant
Autosomal dominant
Adapted by the Developmental Disability Unit, University of Queensland, from the original unpublished version by Michael Kew & Glyn Jones (2001)
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1 : 3,000
Hearing impairment (Glioma
affecting auditory nerve)
Various endocrine
Abnormalities
Hyperacusis
Strabismus
ENDOCRINE
PSYCHIATRIC /
PSYCHOLOGICAL
NEUROFIBRO
MATOSIS
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SYNDROME SPECIFIC LIST FOR GENERAL PRACTITIONERS
AUDIOVISUAL
CEREBRAL PALSY
DOWN SYNDROME
PRADER-WILLI
FRAGILE X
1 : 500
1 : 700
1 : 10,000 - 25,000
1 : 6000
Visual Impairment
Hearing Impairment
Visual Impairment (multifactorial),
cataracts
Hearing Impairment (multifactorial)
(Annual assessments recommended)
Strabismus
Myopia
Visual Impairment
(multifactorial)
Hearing Impairment
Recurrent ear infections
Hypothyroidism
(Annual TFT recommended)
ENDOCRINE
PSYCHIATRIC /
PSYCHOLOGICAL
C.N.S.
Depression
Alzheimer's type dementia (clinical
onset uncommon before 40 years)
Depression
Variable intellectual capacity
Congenital Heart Defects
(common in 40 to 50%)
OTHER
Orthopaedic problems
Neuromuscular problems
Atlantoaxial instability
Skin disorders, alopecia, eczema
Genito-urinary problems
Incontinence, Constipation, Dental
Blood dyscrasias
problems,
Sleep apnoea
Recurrent Aspiration, Oesophagitis,
Increased susceptibility to infections,
Gastroesophageal reflux +/-bleeding /
Coeliac disease
anaemia,
Swallowing or eating difficulty
Most cases are sporadic; 4% due to
translocation involving Chromosome 21 or
rarely parental mosaicism
INHERITANCE
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Attention deficit / hyperactivity
Variable intellectual capacity
Disabled in social functioning
Epilepsy
Usually clonic / tonic,
complex partial
Epilepsy
Usually clonic / tonic
Epilepsy
CARDIOVASCULAR
MUSCULAR/
SKELETAL
NIDDM (secondary to obesity)
Hypogonadism
Delayed puberty
Hyperphagia
Impulse control difficulties
Self-injury
Scoliosis, Kyphosis
Hypotonia
Skin picking
PHENYL /
KETONURIA
1 : 10,000 - 1 : 20,000
Variable intellectual capacity
Phobic anxiety
Disabled in social functioning
Epilepsy
Hyperactivity
Tremor & pyramidal tract
signs
Extrapyramidal syndromes
Aortic dilatation, Mitral
Valve prolapse (related
to connective tissue dysplasia)
Connective tissue dysplasia
Scoliosis
Congenital Hip Dislocation
Infantile failure to thrive, then
hyperphagia & severe obesity
High tolerance to pain
Decreased ability to vomit
Sleep apnoea
Osteoporosis
Undescended testes
Dental abnormalities
Herniae (CT related)
Abnormalities of speech&
language
Eczema
Atypical. Most cases are sporadic.
X linked.
Autosomal recessive
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