HK

DJ

Hong Kong Dental Journal 2006;3:48-51

CASE REPORT

A Chinese girl with Rett syndrome

Edward Moon-Cheung Lai *, BDS, MDS, FRACDS, FHKAM (Dental Surgery), FCDSHK (Paed Dent), MPaedDentRCS
Stephen Hon-Yin Wei , DDS, MS, MDS, FRACDS, FDSRCS, FHKAM (Dental Surgery), FCDSHK
ABSTRACT
Rett syndrome is a neurodegenerative disorder characterized by developmental arrest of parts of the
brain. The syndrome affects females almost exclusively and has rarely been reported in a Chinese subject. A 5.5-yearold Chinese girl presented with clinical features of stereotypical hand movements, bruxism, and dental attrition of the
lower incisors. Dental caries were found on the lower right primary first and second molars. Dental management
included oral hygiene reinforcement and dental restoration of the carious lesions under a rubber dam and local anesthetic.
An upper vinyl plastic splint was also fabricated to prevent further attrition. These patients usually have low tolerance
to dental treatment so appointment times should be short and noise kept to a minimum. The prognosis of Rett syndrome
is not completely known and the complicated underlying mechanism makes the benefit of any therapeutic measure
unpredictable. Preventive dental measures should be initiated early despite their variable life expectancy.

Introduction
Rett syndrome is a developmental disability first
described in 1966 by Andreas Rett. It is a progressive
neurodegenerative disorder associated with autistic
behavior, dementia, gait ataxia, loss of purposeful use of
the hands with stereotypical hand movements, and
seizures. It is highly gender-specific rarely occurring in
males. The diagnosis is based mainly on the clinical
characteristics and the course of the disease. A mutation
in the MeCP2 gene encoding X-linked methyl-CpG
binding protein 2 has been discovered in a proportion of
Rett patients 1. Many attempts have consequently been
made to study the causative gene and thus understand the
neuropathology of Rett syndrome 2,3. The syndrome has
been rarely reported in the dental literature and there have
been no reports of occurrence in a Chinese subject. It is
possible that many cases of Rett syndrome have not been
diagnosed because of a lack of awareness among dental
professionals.

Case report
A 5.5-year-old Chinese girl presented with repetitive grinding
of her teeth. She had previously been diagnosed as having
Rett syndrome, the signs being acquired microcephaly,
* Department of Health, Hong Kong

Private practice
Correspondence to:
Dr. Edward Moon-Cheung Lai
Argyle Street Jockey Club School Dental Clinic, 1/F, 147J Argyle Street,
Kowloon City, Kowloon, Hong Kong
Tel
: (852) 2760 5214
Fax : (852) 2762 7519
e-mail : x3515335@netvigator.com

48 Hong Kong Dent J Vol 3 No 1 June 2006

severe mental retardation, and wringing stereotypical

hand movements that began after her first birthday.
Electroencephalography demonstrated an abnormal wave
discharge and volumetric analyses of magnetic resonance
imaging revealed a decreased brain size. She experienced
no seizures and was on no medication. She had been
regularly reviewed and evaluated by specialist pediatricians.
Programs involving physical and sensational therapy were
also being undertaken by the patient. There was no family
history of Rett syndrome and the patient had one older
brother who was completely normal.
Communication with this girl was difficult. She did not
respond to verbal communication and demonstrated very
poor eye contact. Although the patient had never
experienced dental treatment before, she was relatively
cooperative during dental examinations. Neither physical
restraint nor a mouth prop were required. Extraorally, the
patient had a normal facial profile with incompetent lips.
Bilateral masseteric hypertrophy was also evident. She was
far-sighted and blinked her eyes frequently. Her constant
bruxism occasionally produced a sharp rasping sound. She
exhibited consistent stereotypical hand-washing movements in the midline and at the mid chest level (Figure 1).
Intraoral examination revealed full primary dentition.
Her oral hygiene was satisfactory and the oral soft tissue
was considered generally healthy. Caries lesions were
noted on the lower right primary first and second molars.
Mild attrition was also observed on the incisal edges of the
lower incisors and the palatal side of the upper incisors.
Intraoral radiographs showed no root resorption.
Preventive treatment was performed initially, and included
demonstration to her mother of the correct tooth brushing
technique and application of topical fluoride varnish to

Rett syndrome

Figure 1 Rett syndrome. The girl demonstrated the typical

hand-washing posture of the upper extremities

Figure 2
teeth

the occlusal surface of the primary molars. Restorative

treatment for carious teeth was performed successfully
under local anesthetic and a rubber dam. An upper vinyl
plastic splint was also constructed for the patient to
wear to prevent further severe dental attrition (Figure 2).
The splint was inspected regularly for any severe wear
and breakdown. Damage or permanent deformation
necessitates a replacement splint.

under local anesthetic. Relative analgesia, sedation or

general anesthesia is usually necessary for any dentistry
that involves therapeutic rather than just preventive
measures. Long-term care should consist of parental help
with improving the frequency of oral hygiene at home and
frequent preventive recall appointments. In this case,
restorative treatment was accomplished under local
anesthetic. In addition, it was interesting to find that use
of a rubber dam not only facilitated the restorative
procedure but also helped the patients behavior. She
became more cooperative when the rubber dam was used
in conjunction with a mouth prop. These patients usually
have poor tolerance to dental treatment so appointments
should be as short as possible. Physical restraints should
be avoided because they agitate a child and noise should
be kept to a minimum as this can be frightening 8.

Discussion
Many research papers on Rett syndrome have recently
focused on the correlation between the neurophysiology,
neurochemistry, neurobiology, and neuropathology in
this condition and abnormalities of the causative gene
MeCP2 4-6. This has improved understanding of this
condition and helped clarify management. At present there
is no cure and no unique treatment. Treatment requires a
multidisciplinary approach including medication,
symptomatic treatment, physiotherapy, occupational and
speech therapy.
The clinical diagnosis of Rett syndrome relies on three
features: loss of purposeful hand use, hand wringing in
the midline, and loss of communication skills (Table 1).
The condition is confirmed by genetic testing of peripheral
blood identifying a mutation in the MeCP2 gene. Oral
manifestations of the disorder are still not well defined
while stereotypical hand movements and bruxism are
frequent findings (Table 2) 7,8. The caries lesions in this
patient indicated that tooth decay can occur if preventive
dental measures were insufficient.
There is, at present, no definitive dental treatment
strategy for patients with Rett syndrome. The autistic
behavioral features, mental retardation, and the difficulty
with communication usually preclude dental treatment

Upper soft acrylic splint to prevent abrasion of

Constant grinding and bruxism are prominent oral

features of Rett syndrome, occurring in 43% and 85% of
cases, respectively 10,11. A variety of therapeutic methods
including occlusal adjustment have been utilized to treat
normal patients with bruxism. Soft plastic splints covering
the tooth surfaces have also been recommended 12. This
type of splint requires little adjustment and is especially
suited to children in whom cooperation during fitting may
be less than ideal. The splint should be removed during
oral feeding. The soft splint used in this patient prevented
abrasion of the teeth and was fabricated by vacuum
moulding the maxillary study cast, utilizing a polyvinyl
acetate-polyethylene thermoplastic material. There is
usually significantly decreased nocturnal masseter muscle
activity following placement of such splints although this
did not apply to our patient 13. The mechanism that
underlies the bruxism in Rett syndrome is complicated and
not well understood, thus the effect of any therapeutic
measure is unpredictable. Bruxism has reportedly been
reduced through the use of bite planes and acupuncture.

Hong Kong Dent J Vol 3 No 1 June 2006 49

Lai and Wei

Table 1 Diagnostic criteria for Rett syndrome

Necessary criteria
1. Apparently normal prenatal and perinatal period
2. Apparently normal psychomotor development through the first 6 months of life (may appear normal for up to 18 months)
3. Normal head circumference at birth
4. Deceleration of head growth aged between 5 months and 4 years
5. Loss of acquired purposeful hand skills aged between 6 and 30 months, temporally associated with communication dysfunction
and social withdrawal
6. Development of severely impaired expressive and receptive language, and presence of apparent severe psychomotor
retardation
7. Stereotypic hand movements such as hand wringing/squeezing, clapping/tapping, mouthing and washing/rubbing
automatisms appearing after purposeful hand skills are lost
8. Appearance of gait apraxia and truncal apraxia/ataxia aged between 1 and 4 years
9. Diagnosis tentative until 2 to 5 years of age
Supportive criteria
1. Breathing dysfunction
Periodic apnea during wakefulness
Intermittent hyperventilation
Breath-holding spells
Forced expulsion of air or saliva
2. Electroencephalographic abnormalities
Slow waking background and intermittent rhythmical slowing (3-5Hz)
Epileptiform discharges, with/without clinical seizures
3. Seizures
4. Spasticity, often with associated development of muscle wasting and dystonia
5. Peripheral vasomotor disturbances
6. Scoliosis
7. Growth retardation
8. Hypotrophic small feet
Exclusion criteria
1. Evidence of intrauterine growth retardation
2. Organomegaly or other signs of storage disease
3. Retinopathy or optic atrophy
4. Microcephaly at birth
5. Evidence of perinatally acquired brain damage
6. Existence of identifiable metabolic or other progressive neurological disorder
7. Acquired neurological disorders resulting from severe infections or head trauma

Table 2 Oral manifestations of Rett syndrome 7,8

1.
2.
3.
4.
5.
6.
7.
8.
9.
10.
11.

Abnormal chewing
Bruxism
Hypersalivation
Micrognathia
High-arched palate
Narrow maxillary arch
Tongue protrusion
Mild to severe generalized attrition
Poor oromotor control
Palatal shelving
Calcific metamorphosis of maxillary primary central
incisors
12. Abnormal resorption and mobility of maxillary central
incisors
13. Bimaxillary masseteric hypertrophy

Root resorption can be associated with bruxism, but has

been reported only once in Rett syndrome 8. Other
treatments for bruxism including psychotherapy, hypnosis,

50 Hong Kong Dent J Vol 3 No 1 June 2006

electrical methods, and orthodontic treatment have been

suggested 14, but most are impractical because of poor
patient compliance.
The prognosis of Rett syndrome remains unknown 15.
Some patients die in early childhood from nutritional
deficiencies or complications of respiratory disease 16.
Most survive to middle age and some even live beyond
60 years 17. Despite this variable life expectancy, dental
preventive measures should be commenced early to avoid
the need for treatment under sedation or general anesthesia. An assessment of the degree of hypersalivation,
apnea during waking, severity of autism, and expected
lifespan is recommended prior to commencement of
comprehensive dental treatment 7.
In conclusion, Rett syndrome is an uncommon disorder
that requires early diagnosis and prompt preventive dental
treatment.

Rett syndrome

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