CHARGE
The Hidden Medical Issues
Dr. Kim Blake
Professor Pediatrics
IWK Health Centre and Dalhousie University kblake@dal.ca !
Navasota, Texas Nov. 2013
Halifax, Nova Scotia, Canada
Navasota, Texas, US
No conflict of interest
Objectives
1. After this workshop you will understand many of the hidden medical aspects of CHARGE
Syndrome including: o Feeding issues o Cranial nerves anomalies o Obstructive sleep apnea and postoperative airway events.
2. You will be more aware of bone health and puberty issues.
3. We will share many stories and learn from each other
Let’s Rate Your CHARGEr’s Eating
Difficulties Over the Years
0
None
1
2
A little (reflux, G or J Tube, choking, no G less than 12 or J tubes) months 3
G or J tube feeding more than 12 months 4
Extension
difficulties, one of the biggest problems
CASE HISTORY
4 Major & 3 Minor
MAJOR
C – Coloboma [Left Eye].
C - Choanal Atresia [Right].
C - Cranial Nerves [VII (Right), VIII, IX, XI].
C - Characteristic Ears [Severe SNHL].
MINOR
C - Cardiac - aberrant subclavian artery, bicuspid aertic valve. C - Characteristic CHARGE face.
D – Developmental delay – balance, expressive speech.
Dobbelsteyn C, Blake KD. 2005. Early Oral Sensory Experiences and
Feeding Development in Children with CHARGE Syndrome: A Report of Five Cases. Dysphagia. Vol : 89-100.
Feeding Question #1
“My 2 year old has been getting more picky and will not eat lumps. We never needed a tube but she’s losing weight and now has regular hiccups. She was on ranitidine as an infant but we weaned her off this.”
The family doctor feels that this is just the terrible two’s and not to worry.
Cindy Dobbelsteyn, et al. Feeding Difficulties in Children with CHARGE
Syndrome: Prevalence, Risk Factors, and Prognosis. Dysphagia. 2008 Vol.
23, No. 2, p. 127
Treatments for Gastroesophageal
Reflux (GER)
1. Behavioral treatment – raising the bed, small frequent meals, limiting foods that promote reflux such as tomatoes, meat, chocolate.
2. Medical management o ranitidine 8mg/kg per day in 1-2 divided doses (for babies 3 divided doses) o Prevacid (lansoprazole)- 1-2 mg/kg per day at the beginning of the day (occasionally twice a day) o Domperidone (Motilium) – 4 times a day before meals
Also consider cow’s milk protein intolerance
Discussion From the 11th
International Conference Arizona.
“My adolescent with CHARGE Syndrome was having more problems with swallowing and what sounded like reflux but the food kept getting stuck, and she was complaining of pain. Eventually the doctors did a barium swallow and found a vascular ring that had been missed.”
Vascular
Ring
Barium Swallow
Feeding Question #2
After gastrostomy removal some children cram their mouths with food, why?
• oral hyposensitivity
• Need for substantial amount of food in mouth before bolus preparation occurs
Two friends having lunch.
“Hot Dog in 3 Seconds Flat”
Ate quickly and swallowed without chewing
Ideas for Treatment
- external pacing - Therapist
- small manageable bites
- wait until mouth is clear before offering more
Any Questions on Feeding
Yale Center for Advanced Instrumental Media’s Web Site: http://info.med.yale.edu/caim/cnerves Cranial Nerves
Arising from
Base of Brain
Tenth Edition Grant’s Atlas of Anatomy
Cranial Nerves – 12 Pairs
Motor & Sensory
I
Smell - anosmia
II III IV VI Eye movement
V
Weak chewing & sucking, migraines
VII Facial nerve weakness
VIII Hearing & balance problems
IX X Internal organs (heart, gut)
XI
Shoulder movements
XII
Tongue
Blake KD, et al. Cranial Nerve manifestations in CHARGE syndrome. Am J Med
Genet
