FOLLOW-UP IN CHILDREN WITH JOUBERT-SYNDROME

Although Joubert syndrome (JS) was first reported in 1969 by Joubert e t al (21), the long-term outcome is not yet documented. We report 19 c hildren (4 pairs of siblings) from a single institution diagnosed with JS. Nine children were last seen between ages 10 and 18 years, seven between ages 1 and 4 years. Three children died before 3 years of age, showing marked breathing problems and minimal development. The 16 sur viving children showed variable motor development, walking was typical ly achieved between 2 and 10 years, two children did not learn to walk . Cognitive development showed four with development quotient (DQ) of 30 or less and nine with DQ of 60-85, the others could not be judged c onfidently. Siblings did not show similar development and sex was not predicting outcome. The following oculomotor problems were seen: nysta gmus in 11, ocular motor apraxia in six, isolated ptosis in two, and v ertical gaze palsy in three. Additional features were retinal involvem ent in eight and kidney involvement in four, in one of them after norm al previous ultrasound. In conclusion development of children with IS can be split into distinct subgroups, with one group dying at a young age. Those who survive show variable motor and cognitive development a nd can be grouped into those with Do of less than 30 or those with DQ between 60 and 85. Ophthalmological and renal involvement may change o r develop over the years and should be followed carefully.