Patients (n=22) | Asymptomatic parents (n=8) | |
Age, years (mean±SD, range) | 8.0±4.1 (1–16) | 41.6±5.5 (32–51) |
Sex | 19 M/3F | 4 M/4F |
Referral diagnosis for genetic test | ||
| 4 (18.2%) 12 (54.5%) 6 (27.3%) | – |
Clinical findings | ||
Sitting, months (mean±SD, range) | 9.7±4.3 (6–24) | Reported as normal |
Independent walking, months (mean±SD, range) | 25.7±12.6 (14–72) | Reported as normal |
Persistent COMA | 22/22 (100%) | 0 |
Macrocephaly† | 19/22 (86.4%) | 2/7 (28.6%) |
Infantile hypotonia | 17/22 (77.3%) | 0 |
Mild ataxia | 13/21 (61.9%) | 1/8 (12.5%) |
Speech delay | 9/20 (45.0%) | 0 |
ID (children ≥5 years) | 7/20 (35.0%) | 0 |
Abnormal breathing | 4/22 (18.2%) | 0 |
Education (children ≥6 years) | ||
| 10/19 (52.6%) 9/19 (47.4%) | 8 (100%) 0 |
Other organ involvement |
| 0 |
Neuroimaging ‡ | ||
Superior cerebellar dysplasia | 22/22 (100%) | 2/3 (67%) |
Vermis hypoplasia | 22/22 (100%) | 2/3 (67%) |
SCP horizontal | 20/21 (95.2%) | 2/3 (67%) |
SCP long | 18/20 (90.0%) | 2/3 (67%) |
SCP thick | 19/22 (86.4%) | 2/3 (67%) |
Vermian split | 15/18 (83.3%) | 0/3 |
Fastigium displaced | 13/22 (59.1%) | 0/3 |
*These patients were reported by referring clinicians/neuroradiologists with variable terminology (JS-like, mild JS, mild MTS, JS spectrum, COMA), as they featured some clinical and imaging features suggestive of JS but not sufficient to reach a definite diagnosis.
†Includes parental report of ‘large head’, even if not proven >98 percentile.
‡Some features could not be assessed in all patients due to limited quality of available images.
COMA, congenital ocular motor apraxia; JS, Joubert syndrome; MTS, molar tooth sign; SCP, superior cerebellar peduncle.