Table 3.

Recommended Evaluations Following Initial Diagnosis in Individuals with Okur-Chung Neurodevelopmental Syndrome

System/ConcernEvaluationComment
Constitutional Measure weight, length/height, & head circumference.To assess for poor weight gain / failure to thrive, short stature, & microcephaly
Neurologic Neurologic eval
  • Consider EEG & possible head MRI if seizures are a concern.
  • Assess gait & coordination.
Hypotonia /
Poor coordination 		Orthopedics / physical medicine & rehab / PT & OT evalTo incl assessment of:
  • Gross motor & fine motor skills
  • Mobility, ADL, & need for adaptive devices
  • Need for PT (to improve gross motor skills) &/or OT (to improve fine motor skills)
Development Developmental assessment
  • To incl motor, adaptive, cognitive, & speech/language eval
  • Eval for early intervention / special education
Psychiatric/
Behavioral 		Neuropsychiatric evalPersons age >12 mos: screen for behavior concerns incl sleep disturbances, ADHD, anxiety, &/or findings suggestive of ASD
Musculoskeletal OrthopedicsTo incl assessment of scoliosis, esp in adolescents
Gastrointestinal/
Feeding 		Gastroenterology / nutrition / feeding team eval
  • To incl eval of oromotor function, aspiration risk, & nutritional status
  • Consider eval for gastrostomy tube placement in persons w/dysphagia &/or aspiration risk.
Eyes Ophthalmologic evalTo assess for strabismus & refractive error
Cardiovascular EchocardiographyTo assess for presence of congenital heart defects
Genitourinary Consider renal ultrasound.To assess for presence of renal anomalies & pelviectasis
Immunologic Consider baseline assessment of quantitative immunoglobulin levels.In those w/recurrent &/or unusually severe infections
Respiratory/
Sleep 		Assessment for signs & symptoms of poor sleep &/or sleep apneaConsider referral to a sleep disorder clinic &/or sleep study.
Genetic
counseling 		By genetics professionals 1To inform affected persons & their families re nature, MOI, & implications of OCNDS to facilitate medical & personal decision making
Family support
& resources 		Assess need for:

ADHD = attention-deficit/hyperactivity disorder; ADL = activities of daily living; ASD = autism spectrum disorder; MOI = mode of inheritance; OCNDS = Okur-Chung neurodevelopmental syndrome; OT = occupational therapy; PT = physical therapy

1.

Medical geneticist, certified genetic counselor, certified advanced genetic nurse

From: Okur-Chung Neurodevelopmental Syndrome

Cover of GeneReviews®
GeneReviews® [Internet].
Adam MP, Feldman J, Mirzaa GM, et al., editors.
Seattle (WA): University of Washington, Seattle; 1993-2024.
Copyright © 1993-2024, University of Washington, Seattle. GeneReviews is a registered trademark of the University of Washington, Seattle. All rights reserved.

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.