Klinefelter syndrome - Mun-H-Center

Klinefelter syndrome 2009-10-13
Orofacial function of persons having
Klinefelter syndrome
Report from questionnaires
The survey comprises 21 Questionnaires.
Estimated occurrence: 1,2:1000 births, are individuals born with the classic form, 47, of
XXY Klinefelter syndrome (KS). This corresponds to approximately 500-600 boys per year in
Sweden. It is estimated that there are 20,000 men with KS in Sweden.
Aetiology: These boys are born with an extra X chromosome (47,XXY). This is the
chromosome arrangement found in 80 per cent of cases of KS. In the other individuals with
the syndrome, there are additional extra X or Y chromosomes. As a rule, additional X
chromosomes imply additional symptoms. In approximately 50% of the individuals with KS,
the extra X chromosome comes from the father, and in somewhat fewer from the mother. It
does not appear to make any difference to the course of the disease from which parent the
extra X chromosome comes.
General symptoms: One of the results of the extra X chromosome is a disturbance in the
development of the testicles. This affects production of testosterone, a hormone which
controls many of the main physical properties of the male body. Testosterone levels are
nearly normal until puberty, after which they decrease gradually. Physical growth: Birth size
is average, but height growth proceeds faster than normal during the first years of life. Final
height tends to be about 10 cm taller than expected for the family. Other anomalies include
small penis, feminine distribution of fat over hips and thighs, a tendency to breast gland
growth, underdeveloped musculature, osteoporosis and infertility in adulthood. Language
skills may be reduced in some individuals, resulting in reading and writing difficulties. In other
boys/men with KS, general intelligence and gross motor function may also be impaired.
Neuropsychiatric diagnoses such as ADHD and DAMP also seem to be more common than
in others.
Orofacial/odontological symptoms: The malocclusions that occur include primarily taurodontism,
i.e. large teeth with small roots. One or more missing permanent teeth also seems
to be a frequent occurrence, and in some studies an increased tendency towards other
malocclusions, including open bite and class III malocclusion.
Orofacial/odontological treatment:
• It may be difficult to perform root canal work on taurodontic teeth. This makes it
especially important to maintain good dental status.
• Neuropsychiatric diagnoses may also affect the potential for providing adequate dental
treatment.
Sources:
The MHC database – The database of Mun-H-Center on orofacial manifestations associated
with rare diseases.
The newsletter of the Ågrenska Center.
L Hagenäs, S Arver. Klinefelter´s syndrome, a common but poorly known sex chromosome
anomaly. Läkartidningen 1998;95:2686-93.
Sida 1 av 5

Klinefelter syndrome 2009-10-13
6
3
Age distribution
2
0- 2 3- 6 7- 9 10-12 13-15 16-18 19-29 30-
Impaired vision
7
2
0
1
1
General disabilities
Slight
Moderate
Severe
Impaired hearing
Slight
Moderate
Severe
Behavioural deviation
Slight
Moderate
Severe
Epilepsy
Slight
Moderate
Severe
Retardation
Slight
Moderate
Severe
Mobility dysfunction
Arm/hand
Leg
Wheel chair
Walks with support
Poor sitting balance
Other
Difficulty in communicating
No speech
Incomprehensible speech
Alternative communication
Communication aid
0
0
0
0
0
0
0
0
0
0
1
1
2
2
2
3
3
3
4
4
4
5
5
6
7
F
M
8
8
9
10
Number: 21
Ages: 4 -- 19 years
Sex: M (21) + F (0)
12
0 5 10 15 20 25
Sida 2 av 5
19
18
17
15
17
19
15

Klinefelter syndrome 2009-10-13
10
5
About dental health - problems Oral Munhälsa health
0
1
1
2
3
4
4
4
5
6
7
0 10 20 30
0
0 10 20 30 40 50 60
10
5
Cavities in teeth
Bleeding gums
Loosening of the teeth
Sores in mucous membrane
Bad breath
Faulty dentition
Damaged teeth (accident)
Pain in mouth
Sleeps with open mouth
Snoring
Grinds his/her teeth
How does NN experience the dental care received?
0=no problems/10=great problems
n=19
How does NN manage to brush his/her teeth?
0=well/10=not at all
0
0 10 20 30 40 50 60
About dental health
n=20
20
19
18
19
18
17
18
18
19
18
18
10 0
10
Excellent
Fairly good
Bad
Has Har NN NN received fått tandregleringsbehandling?
orthodontic treatment?
10
5
16
5
Yes
No
0
0 10 20 30 40 50 60
10
5
NN is considered to be in need of orthodontic
treatment
0=no need/10=great need
Age Age
n=18
If help is needed with brushing teeth, how does it
proceed?
0=no problems/10=great problems
n=17
0
0 10 20 30 40 50 60
Age Age
Sida 3 av 5

Klinefelter syndrome 2009-10-13
10
5
0
0 10 20 30
Age
40 50 60
10
5
0
0 10 20 30
Age
40 50 60
10
5
0
0 10 20 30
Age
40 50 60
10
5
Is it possible to eat?
0=no problems/10=extreme problems
Is it possible to drink?
0=no problems/10=extreme problems
Is it possible to suck?
0=no problems/10=extreme problems
Is it possible to swallow?
0=no problems/10=extreme problems
0
0 10 20 30
Age
40 50 60
About eating habits
n=21
n=21
n=21
n=21
About eating habits - problems
Takes long time to swallow bites of
food
Swallows large pieces
Has difficulty in getting food off
spoon
Food/liquids leak out of corners of
mouth
Has difficulty in opening mouth/jaws
Sensitive in mouth
Vomits often
Refuses to eat
Breast feeding problems as infant
Sida 4 av 5
Often chokes on food
Coughs when receiving liquid
Food/liquid goes up the nose
Food gets stuck in palate
Presses tongue forward when
swallowing
Eats meat, hard bread etc.
Eats coarsly mashed food
Eats strained food
Only liquid food
Tube feeding
Parenteral nutrition
Does not receive enough nutrition
Eats too much
Can eat by himself/herself
Can eat by himself/herself to a
certain degree
Is always feed
Allergy to certain foods
0
0
0
0
0
0
0
0
0
0
0
1
1
1
1
1
1
1
2
2
2
2
2
0 10 20 30
Food habits
Special diet
2
2
21
20
0 10 20 30
20
20
21
21
21
21
21
20
21
21
21
21
21
20
21
21
21
21
21
21
21
21
21
21
21
21
21

Klinefelter syndrome 2009-10-13
10
5
Drooling
Drooling
Slight
Moderate
Profusive
Very profusive
Performed drooling treatment
0
1
1
2
2
4
N=20
0 10 20 30
How does parent/attendant experience the drooling?
0=no problem/10=serious problem
0
0 10 20 30 40 50 60
Age
About drooling
n=4
Sida 5 av 5
10
5
0
0 10 20 30 40 50 60
10
5
How does NN experience his/her drooling?
0=no problem/10=serious problem
Age
How do people around NN experience the drooling?
0=no problem/10=serious problem
n=4
n=4
0
0 10 20 30 40 50 60
Age