* 본 콘텐츠는 가부키 증후군 환자를 진료하는 의료진을 위한 참고 자료입니다.
Feeding & Gastrointestinal and Visceral defects
Infancy and Childhood
1. Feeding difficulties
Feeding difficulties are almost always present in KS. These are exacerbated by hypotonia, gastro-oesophageal reflux, velopharyngeal dysfunction and poor oral motor function.
ABNL
- Refer for management by specialised feeding team if possible.
- As infants tube feeding may be required.
- Consider gastrostomy in cases of severe feeding difficulties.
2. Gastro-oesophageal reflux
ABNL
- Treat by positioning in an upright position, thickening feeds and administering anti-reflux medication.
3. Chronic diarrhoea
Chronic diarrhoea is reported with increased frequency in KS.
ABNL
- Exclude infection.
- Check for malabsorption and refer to a pediatric gastroenterologist if present.
- Exclude coeliac disease which may occur with increased frequency in KS.
4. Constipation
Constipation is likely to be due to bowel or abdominal wall hypotonia, and/or reduced mobility.
ABNL
- Treat with standard laxatives.
5. Visceral malformations
Several malformations are seen with increased frequency in KS.: Congenital diaphragmatic hernia, Renal tract malformations, Ano-rectal malformations, Biliary atresia
- An ultrasound scan of the renal tract should be carried out in all patients following diagnosis.
ABNL
- Consider the possibility of bronchial tract anomalies or diaphragmatic defects (eventration) in the case of recurrent lower respiratory tract infections.
- Consider the possibility of extra-hepatic biliary atresia if there is prolonged jaundice, and consider referral to a paediatric gastroenterologist.
Speech, Communication & Cleft
Infancy and Childhood
1. Delayed speech and language acquisition
Delayed speech and language acquisition seen in virtually all KS patients.
- All patients should be referred to a speech and language therapist (Sfort of a multidisciplinary assessment.
- Speech problems may become more obvious with age so SLT should be ongoing until adolescence.
2. Impaired understanding
- SLT can advise on strategies such as using single-syllable words and pictures to aid understanding.
All Ages
1. Cleft palate
One-third of patients have overt clefts. Submucous cleft palate (SCMP) and velopharyngeal incompetence (VPI) are also
found with increased frequency leading to nasal speech.
- All patients should be referred to their local cleft team for assessment of SMCP and VPI. The palate in Kabuki syndrome can be shorter than usual and VPI following cleft surgery is more common.
ABNL
- The cleft surgeon should be made aware of the diagnosis of KS and tailor surgical treatment accordingly.
2. Lip pits
Lip pits are seen in a small proportion of ABNL patients with KS.
ABNL
- They may not require treatment if small but a referral should be made to a plastic surgeon for consideration of surgical removal if causing problems such as persistent mucous production. cleft surgeon should be made aware of the diagnosis of KS and tailor surgical treatment accordingly.
Development & Behaviour
Infancy and Childhood
1. Developmental Delay
- Developmental surveillance from the time of diagnosis following assessment by the local multidisciplinary child development team.
- Ongoing review of special educational needs.
ABNL
- Provide families with advice on accessing local support systems for learning disabilities.
2. Autism
There are reports of a few Kabuki children with autistic features.
- Enquire about these and refer on to the local Child and Adolescent Mental Health Team (CAMHS) if there are significant concerns.
3. Behaviour
Poor attention span has been reported by parents of children with KS.
- Individual assessment of behaviour problems is necessary.
ABNL
- Interventions will be tailored and specific. Behavioural management advice and support to family as required.
Adolescence and Adulthood
1. Developmental Delay
- Do not underestimate capabilities. Many people with KS can learn basic literacy skills, for example.
- Speech and language input remains important in adolescents as language skills often don’t mature at the normal rate.
2. Behaviour
- Access to social skills training, and programmes to teach basic self-help, employment and independent living skills as needed.
ABNL
- Behavioural management advice and support to family as required.
Cardiovascular
All Ages
1. Cardiac defects
Cardiac defects are in 40-50% of KS patients. Many are left-sided obstructive lesions with aortic coarctation.
Atrial septal defect (ASD) and ventricular septal defect (VSD) are the most common malformations seen. Aortic dilatation has been seen in association with aortic lesions.
- An echocardiogram should be carried out on all patients at the time of diagnosis.
- Particular attention should be paid to the detection of left-sided obstructive lesions and the presence of aortic arch dilatation.
ABNL
- All patients with structural cardiac anomalies should be referred to the care of a cardiologist.
- For those patients who need further investigation e.g. catheterisation or angioplasty, the potential increased risk of aortic aneurysm should be
considered. - Patients with aortic anomalies should have annual monitoring for aortic dilatation because they are at increased risk of dissection.
2. Arrhythmia
Arrhythmia has been reported in one patient.
- Electrocardiogram (ECG) is not necessary routinely but should be carried out if arrhythmia is suspected.
3. Blood pressure
- Measure annually in all patients.
Neurology & Seizures
Infancy and Childhood
1. Hypotonia
Hypotonia presents in virtually all infants with Kabuki syndrome.
- Refer for physiotherapy assessment after diagnosis.
- Review physiotherapy support at regular intervals.
ABNL
- Avoid invasive diagnostic tests to establish other causes e.g. muscle biopsy.
All Ages
1. Seizures
Seizures occur in 15-25% of KS patients.
- Epilepsy is frequently described in KS, so a low threshold for investigation and early neurology referral is recommended.
ABNL
- Refer for an MRI scan if seizures occur.
- Treatment of seizures as per the general population, following usual guidelines.
- Check particularly for hypoglycaemia as a precipitating cause.
2. Structural central nervous system (CNS) malformations
A variety of different structural malformations have been reported but none are found consistently in KS.
- MRI does not need to be carried out routinely but should be carried out in cases with severe microcephaly, macrocephaly, seizures or neurological signs suggesting intracranial pathology.
Endocrine & Growth, Puberty & Sexual Health
Infancy and Childhood
1. Neonatal hypoglycaemia
noted with increased frequency but often manifests before the diagnosis of KS is made. Hypoglycaemia may also be present in older children.
- Blood sugar should be checked if there is an onset of seizures or suggestive symptoms.
2. Growth impairment
Growth hormone deficiency has been reported in some patients.
- Monitor height and weight. At present no KS-specific growth charts are available.
ABNL
- Refer to endocrine/growth clinic if height and/or weight < 2nd centile, or if the rate of growth has decreased significantly. Check GH if height <3rd centile, treatment with GH may be considerSuppose. If treated with GH monitor for scoliosis.
Adolescence and Adulthood
1. Obesity
Obesity often develops from the time of puberty.
- Monitor weight through into adulthood.
- Advise on healthy diet and exercise.
2. Puberty
Boys and girls with KS go through normal puberty. Some reports suggest that puberty may be slightly later than normal in boys. Premature thelarche is frequent in KS.
- Pubertal development should be monitored with referral to an endocrinologist if concerns arise.
- Extensive endocrinological work-up is not necessary.
3. Management of menstruation
- Allow girls to progress normally through puberty before considering any treatment.
- Using one of these methods also provides effective contraception, which may influence the decision to treat in some cases.
ABNL
- Consider the use of combined oral contraceptives (COC) or Depo-Provera to suppress/lighten periods. In the UK COC is used most often.
- Surgical management such as endometrial ablation or hysterectomy is not normally recommended.
4. Combined Oral Contraceptive
Contraception should be considered if the situation arises and if women are considered vulnerable.
- Normal contraindications apply.
