Table 5.

HYAL2 Deficiency: Treatment of Manifestations

Manifestation/ConcernTreatmentConsiderations/Other
Congenital cardiac anomalies Mgmt by pediatric cardiologist &/or pediatric cardiac surgeon to address specific lesion(s) identified
Timing/coordination of surgical, dental, & orthodontic mgmt of CLP Determined by multidisciplinary craniofacial teamSurgical repair timing & type of procedure determined by team
Feeding/Nutrition Multidisciplinary craniofacial teamEquipment & techniques for feeding infants w/cleft palate &/or cardiac anomalies (e.g., high-calorie foods/formulas &/or supplementation via nasogastric or enteral feeding as needed) to maintain adequate caloric intake, growth, & weight gain 1
Speech issues Assessment by speech-language pathologist as part of multidisciplinary craniofacial teamInterventions depend on etiology of speech issues & may incl speech therapy &/or use of assistive communication devices.
Ophthalmologic involvement Pediatric ophthalmologistMgmt of refractive errors, strabismus
Ophthalmologic subspecialistMore complex findings (e.g., cataract, myopic maculopathy &/or retinal detachment)
Low vision services
  • Children: through early intervention programs &/or school district
  • Adults: low vision clinic &/or community vision services / OT / mobility services
Hearing loss Consider otolaryngology eval as required for mgmt of middle ear effusions
  • Timely treatment of otitis media secondary to eustachian tube dysfunction due to cleft palate to prevent secondary hearing loss
  • Some persons may require placement of pressure-equalizing tubes.
Family/Community
  • Ensure appropriate social work involvement to connect families w/local resources, respite, & support.
  • Coordinate care to manage multiple subspecialty appointments, equipment, medications, & supplies.

CLP = cleft lip and palate; OT = occupational therapy

1.

Enteral feeding tubes may be needed if there is concern for aspiration or if the affected individual is unable to take in adequate calories for growth. Some children with more significant respiratory issues may require surgical feeding tubes and/or procedures to protect their lungs from microaspiration.

From: HYAL2 Deficiency

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