Table 3.

Recommended Evaluations Following Initial Diagnosis in Individuals with Xia-Gibbs Syndrome

System/ConcernEvaluationComment
Constitutional Measurement of growth parameters
  • To assess for growth deficiency & short stature
  • Consider targeted assessment for growth hormone deficiency in those w/poor growth velocity.
Development Developmental assessment
  • To incl motor, adaptive, cognitive, & speech/language eval
  • Eval for early intervention / special education
Psychiatric/
behavioral
concerns 		Neuropsychiatric evalFor those age >12 mos: screening for behavior concerns incl sleep disturbances, ADHD, anxiety, &/or traits suggestive of ASD
Neurologic Neurologic eval incl assessment for mvmt disorders
  • To incl consideration of brain MRI if clinically indicated
  • EEG if seizures suspected
Gastrointestinal/
Feeding 		Gastroenterology / nutrition / feeding team eval
  • Eval of aspiration risk & nutritional status
  • History of constipation & GERD
  • Consider need for gastric tube placement.
Sleep disorder Assessment by polysomnography for sleep disturbance &/or evidence of sleep apneaTo assess for obstructive sleep apnea
Respiratory Assessment for noisy breathing (stridor) & irregular breathing patternsConsider referral to pulmonologist.
Musculoskeletal/
Hypotonia 		Orthopedics / physical medicine & rehab / PT & OT evalTo incl assessment of:
  • Gross motor & fine motor skills
  • Contractures, clubfoot, & kyphoscoliosis
  • Mobility, activities of daily living, & need for adaptive devices
  • Need for PT (to improve gross motor skills) &/or OT (to improve fine motor skills)
Clinical exam for scoliosisAP & lateral radiographs of spine if scoliosis suspected
Eyes Ophthalmologic evalTo assess for ↓ vision, strabismus, & nystagmus
Hearing 1 Audiology evalTo assess for sensorineural &/or conductive hearing loss
Genetic
counseling 		By genetics professionals 2To inform affected persons & their families re nature, MOI, & implications of XGS in order to facilitate medical & personal decision making
Family support
& resources 		Assess need for:
  • Community or online resources such as XGS Society;
  • Social work involvement for parental support;
  • Home nursing referral.

ADHD = attention-deficit/hyperactivity disorder; ASD = autism spectrum disorder; GERD = gastroesophageal reflux disease; MOI = mode of inheritance; OT = occupational therapy; PT = physical therapy; XGS = Xia-Gibbs syndrome

1.

Although hearing loss is not commonly described in association with this condition, screening for occult hearing loss is often recommended in those who have developmental delay / intellectual disability that includes speech delay.

2.

Medical geneticist, certified genetic counselor, certified advanced genetic nurse

From: Xia-Gibbs Syndrome

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