Table 3.

Recommended Evaluations Following Initial Diagnosis in Individuals with DDX3X-Related Neurodevelopmental Disorder

System/ConcernEvaluationComment
Constitutional Assess height, weight, & head circumference.Check for evidence of FTT.
Neurodevelopment Neurodevelopmental assessment to identify delaysTo incl motor, speech-language eval, general cognitive, & adaptive skills by available & appropriate services (e.g., eval by early intervention program (ages 0-3 yrs), public school district (ages 3-21 yrs), or possibly by developmental/behavioral pediatrician
Speech & language Eval by speech-language pathologistAssessment of speech, language, & communication abilities
Neurologic Neurologic eval for hypotonia, movement disorder, spasticityIf seizures are suspected: EEG & consideration of brain MRI
Psychiatric/
Behavioral 		Consider assessment by behavioral pediatrician to assess maladaptive behaviors or by psychiatrist for more severe behavioral issues.Persons age >12 mos: incl screening for behavior issues, e.g., sleep disturbances, ADHD, anxiety, &/or findings suggestive of ASD.
Cardiovascular Eval by cardiologist
  • Especially those w/FTT & feeding difficulties
  • Consider autonomic instability in those w/syncope, tachycardia, &/or orthostatic hypotension
Respiratory Eval by pulmonologistPatients w/apnea, tachypnea, other respiratory manifestations, &/or respiratory failure
Gastrointestinal/
Feeding 		Gastroenterology / nutrition / feeding team evalIf feeding difficulties, GERD, &/or FTT are present:
  • Swallowing, feeding, & nutritional status assessment to determine safety of oral vs gastrostomy feeding
  • Mgmt of constipation, if present
Musculoskeletal Orthopedics / physiatry / PT & OT eval
  • Eval for scoliosis if referred by pediatrician
  • Determination of DME needs
Eyes/Vision Ophthalmologic examExam for refractive errors, cortical visual impairment, optic atrophy, coloboma, nystagmus, & strabismus
Hearing loss Audiologic evalFor SNHL, conductive HL, or both
Genetic counseling By genetics professionals 1To inform affected persons & families re nature, MOI, & implications of DDX3X-NDD in order to facilitate medical & personal decision making
Family support
& resources 		Assess need for:

ADHD = attention-deficit/hyperactivity disorder; ASD = autism spectrum disorder; DME = durable medical equipment; FTT = failure to thrive; GERD = gastroesophageal reflux disease; MOI = mode of inheritance; OT = occupational therapy; PT = physical therapy; SNHL = sensorineural hearing loss

1.

Medical geneticist, certified genetic counselor, certified advanced genetic nurse

From: DDX3X-Related Neurodevelopmental Disorder

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