Table 5.

Treatment of Manifestations in Individuals with STAC3 Disorder

Manifestation/
Concern		TreatmentConsiderations/Other
Hypotonia/
Myopathy 		OT & PTConsider use of adaptive devices to improve mobility.
Contractures Consider:
  • PT to improve range of motion;
  • Stretching, night splints, or serial casts.
Avoid periods of prolonged immobilization (e.g., following surgery).
Talipes
equinovarus 		Per recommendations of treating orthopedistSerial casting, splinting, & surgical intervention may be required.
Scoliosis Per recommendations of treating orthopedistOften initial bracing is followed by progressive scoliosis requiring surgery.
Ptosis Surgical repair, such as levator resection or frontalis sling surgeriesUncorrected ptosis may lead to ↓ visual acuity & ↓ visual fields - most commonly visual field loss.
Poor weight gain /
Weight-faltering 		Assessment of caloric intake; high-calorie foods/formulas &/or supplementation via nasogastric or enteral feeding may be necessary.
Poor feeding Per recommendations of speech therapist/OT, nutritionist, or multidisciplinary craniofacial teamMay incl specialized bottles, nasogastric or enteral feeding tube, 1 feeding therapy
Cleft palate Specialized cleft bottles; timing & type of surgical repair determined by craniofacial team 1If micrognathia also present, may be evaluated for Pierre Robin sequence
Speech issues Assessment by speech-language pathologist as part of multidisciplinary craniofacial team 2Interventions depend on etiology of speech issues & may include speech therapy, surgery, &/or use of assistive communication devices.
Respiratory
insufficiency
  • Invasive or noninvasive ventilatory support, mechanical cough assist (in exsufflator)
  • As per recommendations of pulmonary & craniofacial team
  • Aggressive treatment & prevention of lower respiratory tract infections (influenza & PCV-23 vaccines)
  • May incl need for noninvasive or invasive positive pressure ventilation (e.g., CPAP, BiPAP via mask, tracheostomy w/ventilation); assessment for ascending or descending microaspiration w/appropriate interventions

OT = occupational therapy; PT = physical 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.

2.

Due to the complexity of speech evaluation in children with myopathic facies, structural differences with or without cleft palate, a speech-language pathologist on a multidisciplinary craniofacial team will be needed to determine the contributing factors in most children.

From: STAC3 Disorder

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