TREATMENT:
Is there any treatment?
Treatment for Joubert syndrome is symptomatic and supportive. Infant stimulation and physical, occupational, and speech
therapy may benefit some patients. Infants with abnormal breathing patterns should be monitored.
What is the prognosis?
The prognosis for individuals with Joubert syndrome varies. Some patients have a mild form with minimal motor disability
and good mental development, while others may have severe motor disability and moderate mental retardation.
HEALTH CARE RECOMMENDATIONS:
We recommend the following evaluations for patients with Joubert Syndrome and Related Disorders:
Diagnostic Evaluations (Initial)
1. Careful physical examination to look specifically for co-existent features (see diagnosis).
2. Pediatric neurological evaluation for careful assessment of development and cerebellar function.
3. Medical genetics evaluation with attention focused on genealogy, growth, polydactyly, micro/macrocephaly, facial dysmorphism, clefts, lingual nodules, genitalia, and other anomalies.
4. Evaluation of oromotor function by a trained occupational or speech therapist
5. Brain MRI with axial, coronal, sagittal images (ideally with 3 mm axial planes through midbrain and pons) and review of the images by one of the Medical Advisors of the Joubert Syndrome Foundation.
6. Developmental assessment using the Bayley Scale for children less than 3 years and specific age-appropriate motor/speech/language testing for older children.
7. Sleep history with attention to apnea/hyperpnea. Polysomnogram in all children diagnosed under the age of 1. After the age of 1, this test may be useful if the child has symptoms of sleep apnea.
8. Baseline pediatric ophthalmologic dilated eye exam to test for retinal dysplasia and coloboma. If visual problems are suspected, a visual evoked potential (VEP) study may be a useful test that does not require sedation and can be performed as early as 6 months of age.
9. Baseline electroretinogram (ERG) if possible. Ideally, this should be done between the ages of 8 months and 3 years, when the sedation required is minimal.
10. Specific ocular motility examination (with electrooculogram in older children).
11. Abdominal ultrasound scan with attention to kidneys and liver.
12. Renal evaluation: Blood urea nitrogen (BUN), creatinine, complete blood count (CBC), and first-morning void urinalysis with specific gravity for concentrating ability. A baseline blood pressure should be obtained.
13. Liver function tests (LFTs) to include transaminases, albumin and bilirubin.
14. High resolution karyotype.
15. Referral of the child to one of the Medical Advisors of the Joubert Syndrome Foundation to discuss results of testing or for questions.
Annual Evaluations (Yearly)
1. Annual pediatric and neurological evaluation to monitor systemic or motor abnormalities.
2. Patients may have progressive kidney failure with the first manifestation being reduced urine concentrating ability or anemia. Therefore, annual abdominal ultrasounds, BUN, creatinine, CBC, and first-morning void urinalysis, as well as blood pressure measurements, are recommended until at least age 20 years.
3. Ophthalmologic abnormalities may be progressive. Therefore, annual ophthalmologic evaluation of retina is recommended with follow-up ERG if indicated by the ophthalmologist.
4. Annually monitor growth and sexual maturation with endocrinologic evaluation if indicated
5. Neuropsychological evaluation when patient is able to cooperate with testing.
6. Periodic developmental assessments as appropriate.
7. Liver evaluation by annual ultrasound (as for kidneys) and liver function tests.
8. Patients may have problems with swallowing from large tongues, thus need ongoing evaluation for oromotor function and symptoms of obstructive apnea.
These recommendations were developed by Drs. Bernard Maria, William Dobyns, Joseph Gleeson, and Melissa Parisi.
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