Table 5. [Recommended Surveillance for Individuals with DDX3X-Related Neurodevelopmental Disorder]. - GeneReviews®

System/Concern	Evaluation	Frequency
Constitutional	Measure height, weight, BMI, & head circumference.	Annually or more frequently if FTT
Eyes	Ophthalmologic eval	Annually or more frequently as needed
Hearing	Audiologic assessment	Reevaluate as needed for suspected hearing loss.
Gastrointestinal/ Feeding	Assess nutritional status & feeding w/attention to poor weight gain, choking/gagging during feeds, & feeding refusal not otherwise explained.	Annually or more frequently if FTT
Musculoskeletal	Eval for effects of hypotonia PT follow up for gait abnormality	If needs are present, PT assessment at least 1x/mo recommended Once stable, gradually ↓ frequency to 1x/yr.
Monitor for scoliosis.	Annually or more frequently as needed
Neurologic	Follow up for possible seizures or for seizure mgmt Monitor for abnormal movements.
Development	Monitor developmental progress & educational needs.	Every 6 mos, then annually when school aged
Endocrine	Monitor for evidence of precocious puberty.	Starting at age 8 yrs
Psychiatric/ Behavioral	Eval by developmental psychologist	As needed
Miscellaneous/ Other	Assess family need for social work support, other local resources.	Annually or more frequently as needed

System/Concern

Evaluation

Frequency

Constitutional

Measure height, weight, BMI, & head circumference.

Annually or more frequently if FTT

Eyes

Ophthalmologic eval

Annually or more frequently as needed

Hearing

Audiologic assessment

Reevaluate as needed for suspected hearing loss.

Gastrointestinal/
Feeding

Assess nutritional status & feeding w/attention to poor weight gain, choking/gagging during feeds, & feeding refusal not otherwise explained.

Annually or more frequently if FTT

Musculoskeletal

Eval for effects of hypotonia
PT follow up for gait abnormality

If needs are present, PT assessment at least 1x/mo recommended
Once stable, gradually ↓ frequency to 1x/yr.

Monitor for scoliosis.

Annually or more frequently as needed

Neurologic

Follow up for possible seizures or for seizure mgmt
Monitor for abnormal movements.

Development

Monitor developmental progress & educational needs.

Every 6 mos, then annually when school aged

Endocrine

Monitor for evidence of precocious puberty.

Starting at age 8 yrs

Psychiatric/
Behavioral

Eval by developmental psychologist

As needed

Miscellaneous/
Other

Assess family need for social work support, other local resources.

Annually or more frequently as needed

From: DDX3X-Related Neurodevelopmental Disorder

GeneReviews^® [Internet].

Adam MP, Feldman J, Mirzaa GM, et al., editors.

Seattle (WA): University of Washington, Seattle; 1993-2024.

GeneReviews® chapters are owned by the University of Washington. Permission is hereby granted to reproduce, distribute, and translate copies of content materials for noncommercial research purposes only, provided that (i) credit for source (http://www.genereviews.org/) and copyright (© 1993-2024 University of Washington) are included with each copy; (ii) a link to the original material is provided whenever the material is published elsewhere on the Web; and (iii) reproducers, distributors, and/or translators comply with the GeneReviews® Copyright Notice and Usage Disclaimer. No further modifications are allowed. For clarity, excerpts of GeneReviews chapters for use in lab reports and clinic notes are a permitted use.

For more information, see the GeneReviews® Copyright Notice and Usage Disclaimer.

For questions regarding permissions or whether a specified use is allowed, contact: ude.wu@tssamda.

NCBI Bookshelf. A service of the National Library of Medicine, National Institutes of Health.