Table 4.

Treatment of Manifestations in Individuals with Xia-Gibbs Syndrome

Manifestation/ConcernTreatmentConsiderations/Other
DD/ID See Developmental Delay / Intellectual Disability Management Issues.
Behavioral concerns
(ADHD, anxiety,
autism)
  • Provide specialized instruction, OT, PT, & speech/behavioral therapies if indicated.
  • Standard treatment for ADHD (may incl medication)
  • Psychiatric consultation & therapy for those w/anxiety
ABA therapy may be indicated for those w/autistic features.
Epilepsy Standardized treatment w/ASMs by experienced neurologist
  • Many ASMs may be effective; none has been demonstrated effective specifically for XGS.
  • Education of parents/caregivers 1
Movement disorders
(ataxia, tremors,
bradykinesia) 		Standard treatment per neurologistMgmt by neurologist familiar w/mvmt disorders recommended
Feeding difficulties Feeding therapy; gastrostomy tube placement may be required for persistent feeding issues.Low threshold for clinical feeding eval &/or radiographic swallowing study if clinical signs or symptoms of dysphagia
GERD Standard treatmentMay incl positioning &/or medications
Growth hormone
deficiency 		Growth hormone therapy if growth hormone deficientConsultation w/endocrinologist recommended
Obstructive sleep
apnea 		Standard treatment per otolaryngologist &/or sleep medicine specialistMay incl removal of tonsils/adenoids &/or supportive breathing assistance through CPAP
Stridor or disordered
breathing 		Standard treatment per pulmonologist
Musculoskeletal Orthopedics / physical medicine & rehab / PT & OTConsider need for positioning & mobility devices, disability parking placard.
Scoliosis Standard treatment per orthopedist
Reduced vision &/or
strabismus 		Standard treatment per ophthalmologistCommunity vision services through early intervention or school district
Hearing loss Hearing aids may be helpful; per otolaryngologist & audiologist.Community hearing services through early intervention or school district
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.
  • Ongoing assessment of need for palliative care involvement &/or home nursing
  • Consider involvement in adaptive sports or Special Olympics.

ABA = applied behavioral therapy; ADHD = attention-deficit/hyperactivity disorder; ASM = anti-seizure medication; CPAP = continuous positive airway pressure; DD/ID = developmental delay / intellectual disability; OT = occupational therapy; PT = physical therapy

1.

Education of parents/caregivers regarding common seizure presentations is appropriate. For information on non-medical interventions and coping strategies for children diagnosed with epilepsy, see Epilepsy Foundation Toolbox.

From: Xia-Gibbs Syndrome

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