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Andrew M. Ball, MS, PT -> Help with Joubert Syndrome (March 15, 2000 5:48:00 AM)
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I just picked up a child with this rare genetic disorder. I've got a few questions that I've listed in the Journal Review section of RehabEdge.
Please join us!
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Folks,
I need some help. I just picked up an 11 month old little guy with Joubert syndrome. The so-called ataxic cerebral palsy autosomal-recessive disorder has clinical symptoms of ataxia coupled with hyperpnea-apnea, abnormal eye movements, and mental retardation (Andermann F, et al, 1999). Significant brainstem abnormalities are noted by Yachnis AT, & Rorke LB, 1999 including reduction of neurons of the basis pontis and reticular formation (that’s where the CPGs from the spinal cord are modulated, so as far as PWB-GT goes, looks like I’m outta luck). Other brainstem malformations were found in the medulla including hypoplasia of the inferior olivary nuclei, solitary nuclei and tracts, and the nucleus and spinal tracts of the trigeminal nerve (CN V).
These brainstem abnormalities are very similar to those found in children with autism spectrum disorders, and as most of you would guess, many more kids with Joubert have autism (36% per Ozonoff S, et al, 1999) than the typical population (I think around 1 to 3%).
Long-term prognosis studies are few and far between. What I gathered was that 15% die by age 3. Of the survivors, 12% never learn to walk (which was achieved not before age 2 in any case, and not after age 10), 68% have nystagmus, and 37% have ocular motor apraxia (Steinlin M, et al, 1997). One additional study was a case study examining the 30 year follow-up of the original proband, which found that by age 30, severe dysarthria was the most striking feature. Hyperpena-apnea had diminished, and the abnormal eye movements were less striking. Ataxia was still present but not severe. Poor judgement and borderline intelligence was also noted.
Right now, I’ve got the assitive technology needs covered, and I’m looking to see what others have seen in terms of how these kids respond to physical therapy. What’s worked? What’s the variation in abilities across the population? Anyone tracked one of these kids long term??? Any other articles that would be of benefit???
REFERENCES
Andermann F, et al. Hisory of Joubert syndrome and a 30-year follow-up of the orignal proband. J Child neurol 1999 Sep; 14(9):565-9.
Yachnas AT &Rorke LB. Neuropathology of Joubert Syndrome. J Child Neurol 1999 Oct; 14(10):655-9.
Ozonoff S, et al. Autism and autistic behavior in Joubert Syndrome. J Child Neurol Oct; 14(10):636-41.
Steinlin M, et al. Follow-up in children with Joubert Syndrome. Neuropediatrics 1997 Aug;28(4):204-11.
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Remember to post not here, but on the JOURNAL REVIEW CLUB THREAD.
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Andrew M. Ball, MS, PT
MBA/PhD Candidate
[This message has been edited by Andrew M. Ball, MS, PT (edited March 15, 2000).]
[This message has been edited by Andrew M. Ball, MS, PT (edited April 23, 2000).]
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