Table 4.

Recommended Evaluations Following Initial Diagnosis in Individuals with ATR-X Syndrome

System/ConcernEvaluationComment
Growth Assess height, weight, head circumferenceIn infants & children
Development Developmental assessment
  • To incl motor, adaptive, cognitive, & speech-language eval
  • Eval for early intervention / speech therapy / PT & OT / special education
Neurologic Neurologic eval
  • To assess muscle tone, evidence for spasticity (↑ reflexes, Babinski response)
  • To incl EEG & MRI if seizures a concern
Gastrointestinal/
Feeding 		Gastroenterology / nutrition / feeding team evalFor:
  • Nutritional status
  • Swallowing difficulties & aspiration risk
  • GERD &/or recurrent vomiting
  • Gastric pseudo-obstruction
  • Constipation
Genital
abnormalities 		Physical exam for evidence of a disorder of genital development such as cryptorchidism, hypospadias, ambiguous genitalia, normal female external genitalia in 46,XY individualsConsultation w/pediatric urologist if surgical intervention required
Musculoskeletal Orthopedics / physical medicine & rehab / PT & OT evalTo incl assessment of:
  • Gross motor & fine motor skills
  • Contractures, clubfoot, & kyphoscoliosis
  • Mobility & need for adaptive devices
  • Need for PT (to improve gross motor skills) &/or OT (to improve fine motor skills)
Congenital
heart defects 		Pediatric cardiologistSeptal defects require eval re possible intervention.
Ophthalmologic
involvement 		Ophthalmologic examAssess for strabismus, ↓ visual acuity, structural eye defects (e.g., coloboma).
Genetic
counseling 		By genetics professionals 1To inform affected individuals & their families re nature, MOI, & implications of ATR-X syndrome in order to facilitate medical & personal decision making
Family support
& resources 		Assess need for:

GERD = gastroesophageal reflux disease; MOI = mode of inheritance; OT = occupational therapy; PT = physical therapy

1.

Medical geneticist, certified genetic counselor, certified advanced genetic nurse

From: Alpha-Thalassemia X-Linked Intellectual Disability Syndrome

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