CHARGE Syndrome Canada Newsletter SPECIAL EDITION 2007 Vol. 1 No.15 © copywrite |
Carnitine deficiency in CHARGE syndrome
International CHARGE Syndrome Conference Summary
Dr. vanDijk shares Russian research
Behaviour Boarderline Personality Disorder
Past Edition of the Newsletter
Summary of the 8th International CHARGE Syndrome Conference
This year's international conference was held on July 27th - July 29th, 2007 in Costa Mesa California. Here are some of the highlights:
Two Canadian adults with CHARGE were on the committee to help develop an International sign for CHARGE Syndrome
Baylor Study highlights: (Seema Lalani reported)
- 99% of the 134 children studied had the characteristic ear, with 91% experiencing deafness and coloboma (no specific type mentioned) at 83%, heart defects also common at 81%, choanal atresia at 53% but 75% of the children had swallowing problems
-most children had new mutations in the CHD7 gene, but there was no correlation between the severity of the clinical findings and the type of mutation
Diagnosis and Features: (Meg Hefner reported)
additions to the four features (4 C's) included detail on anomalies: coloboma, cranial nerves 9 & 10, choanal atresia (adding stenosis), and characteristic ears; swallowing complication of aspiration and GE reflux noted as common; cranial nerve 1 and absent sense of smell noted; minor features included the upper body hypotonia, characteristic CHARGE face, and hockey stick palmer crease as well as other previously noted features; management issues such as sleep disturbances, cyclic vomiting/abdominal migraines, and possible autonomic nervous system issues were noted, as well as the need for sensory integration and the knowledge of typical behaviours relating to CHARGE such as Obsessive Compulsive Disorder
Anesthesia Complications (Dr. Kim Blake, MD, MRCP, FRCPC)
-always risks but study concluded 35% of anesthesias resulted in complications
-heart diagnostic, and gastrointestinal tract procedures result in the most complications
- a complication resulted at least once in every type of surgery except for eye
- a high risk of complications for those with Nissen fundoplication or gastrotomy/jejunostomy tube
-low risk with cleft palate
- need more study on individuals with CHD7 mutations who have mild criteria
Familial CHARGE Syndrome: Is there a recurrence risk?
(Conny van Ravenswaaij & Jorieke Bergman)
1 in 10 000 newborns but 3% have a sib or parent who has CHARGE syndrome; in families an unexpectedly mild form of CHARGE syndrome can be found which was abnormal shape of ears and balance issues which direct to abnormal cemicircular canals; in these families recurrence risk is 50%; cannot predict clinical features or consequences by specific variable in the change in the CHD7-genes, two changes is enough to find CHARGE; familial CHARGE syndrome is extremely rare, so recurrence risk will be low; but parents could be investigated for mild symptoms of CHARGE
Watch for more updates from the conference in our next newsletter.
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