TABLE 2.
Prevalence, onset, and management of medical complications associated with Joubert syndrome
| Prevalence (%)a |
Onset | Specialized tests/referrals to consider based on Hx/PE/routine tests |
Management/treatment | |
|---|---|---|---|---|
| Neurologic | ||||
| MTS | 100 | Congenital | ||
| Encephalocele | 8 | Congenital | MRI, Neurosurgery consultation | Surgery if clinically indicated |
| Hydrocephalus | Rare | Unknown | MRI (or US or CT) if clinically indicated, Neurosurgery consultation | Shunt if clinically indicated |
| Dystonic episodes | Rare | Unknown | Neurology consultation | Behavioral (remove inciting factors), medication trials, tooth removal for severe biting |
| Seizures | >10 | Unknown | EEG, Neurology consultation | Antiepileptic treatment as required |
| Feeding problems Dysphagia | Common | Congenital | Video fluoroscopic swallow study chest X-ray if s/s | Feeding therapy, thickened feeds, tube feeding |
| Cognitive and developmental delays | Common | Congenital | Standardized neurocognitive testing (private or school-based), annual school program planningb | Special education support Speech therapy, consider alternative communication strategies and/or augmentative communication devices Occupational therapy Physiotherapy |
| Ocular motor apraxia, ophthalmoplegia | ~80 | Congenital | Ophthalmology consultation | Supportive interventions for visual impairment |
| Behavior/psychiatric | ||||
| Self-injury, anxiety, stereotypies, depression, ADHD, hallucinations, sleep disturbances | Unknown | Early childhood to adulthood | Functional behavioral analysis, developmental pediatrics or psychiatry consultation, sleep medicine evaluation | Behavioral interventions, medications |
| Respiratory | ||||
| Abnormal respiratory control | ~70 | Congenital | Sleep medicine/pulmonology polysomnography | Respiratory support if indicated, home monitoring controversial, no evidence for or against caffeine |
| Obstructive apnea | Unknown | Neonatal to adulthood | Sleep medicine/pulmonology/ENT consultation polysomnography, echocardiogram | Supplementary oxygen, PAP, T/A, if indicated |
| Restrictive lung disease (w/skeletal dysplasia) | Rare | Congenital | Chest X-ray Pulmonology consultation | Respiratory support if indicated, thoracic expansion if indicated |
| Ophthalmology | ||||
| Strabismus | >31 | Neonatal to adolescence | Cover-uncover test, Ophthalmology consultation | Spectacles, patching or pupillary dilation, surgery with caution due to underlying neurological abnormality |
| Ptosis | >19 | Congenital | Ophthalmology consultation | Surgery if indicated |
| Retinal dystrophy | 30 | Neonatal to adulthood | Ophthalmology consultation, consider OCT, ERG, FAF if indicated | Supportive interventions for visual impairment |
| Coloboma | 17 | Congenital | Ophthalmology consultation | Supportive interventions for visual impairment |
| Kidney | ||||
| Fibrocystic kidney disease/nephronophthisis/cystic dysplasia | 25 | Neonatal to adulthood | Nephrology consultation bone density scan, kidney biopsy | Medications for support of decreasing kidney function; diagnosis and treatment of hypertension, prevention of dehydration in early disease and fluid overload in late disease; in case of ESKD: dialysis, kidney transplantation |
| Liver | ||||
| Congenital hepatic fibrosis | 14 | Congenital to adulthood | GI/hepatology consultation | Medications for management of portal hypertension ablation of varices, porto-systemic shunting if indicated, liver transplant |
| Musculoskeletal | ||||
| Polydactyly | 15 | Congenital | X-ray, orthopedics consultation | Surgery if indicated for functional or aesthetic reasons |
| Scoliosis | >5 | Childhood-adulthood | X-ray, orthopedics consultation | Surgery if indicated for respiratory compromise or positioning (rare) |
| Skeletal dysplasia | Rare | Congenital | X-ray, skeletal dysplasia specialist consultation | Surgery if indicated for respiratory issues (rare) |
| Other | ||||
| Endocrine | 4–6 | Infancy to adulthood | Laboratory testing based on clinical suspicion | Hormone replacement as required |
| Congenital heart disease | Rare | Congenital | Echocardiogram, chest X-ray, cardiology consultation | Based on specific lesion |
| Hearing loss | ~3 | Neonatal to childhood | Audiology evaluation | Ear tubes for chronic otitis media, hearing aids, cochlear implants (rare) |
| Cleft palate | >3 | Congenital | Craniofacial consultation | Surgery if indicated |
| Oral features, frenula, hamartoma | >4 | Congenital | NA | Surgery if indicated (for function or comfort—rare) |
| Feeding difficulty, drooling | Common | Congenital | Clinical feeding evaluation, video fluoroscopic swallow study | Feeding therapy, tube feeding, medications for drooling |
| Genetics | ||||
| Molecular diagnosis | NA | NA | Genetics consultation, genetic testing | Prognostic, recurrence risk, and reproductive counseling, Stratification into different risk groups for specific complications, Assignment to future gene-specific treatments |
Abbreviations: ADHD, attention deficit hyperactivity disorder; ENT, ear nose throat (otorhinolaryngology); ESKD, end-stage kidney disease; FAF, fundus auto-fluorescence; Hx, history; mvt, movement; PAP, positive airway pressure (continuous, bilevel, or other), PE, physical exam; s/s, signs and symptoms; T/A, tonsillectomy/adenoidectomy; US, ultrasound.
a
Based on Bachmann-Gagescu, Dempsey et al., (2015), the prevalence of each feature likely depends on the specific population evaluated.
b
Individualized Educational Plan (IEP) in the United States.