Table 3.

Bryant-Li-Bhoj Neurodevelopmental Syndrome: Recommended Evaluations Following Initial Diagnosis

System/ConcernEvaluationComment
Constitutional Measurement of weight, length/height, & head circumferenceTo evaluate for poor growth, short stature, &/or microcephaly 1
Neurologic Neurologic eval, to incl assessment of tone & gait, if ambulatory
  • To incl brain MRI
  • Consider EEG if seizures are a concern.
Development Developmental assessment
  • To incl motor, adaptive, cognitive, & speech-language eval
  • Eval for early intervention / special education
Neurobehavioral/
Psychiatric 		Neuropsychiatric evalFor persons age >12 mos: screening for behavior concerns incl ADHD &/or findings suggestive of ASD
Musculoskeletal 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)
Assess for head shape & sutural ridging that would suggest craniosynostosis.Consider obtaining a head CT w/3D reconstruction to evaluate for craniosynostosis in those w/abnormal head shape.
Gastrointestinal/
Feeding 		Gastroenterology / nutrition / feeding team eval
  • To incl eval of aspiration risk & nutritional status
  • Consider eval for gastrostomy tube placement in persons w/dysphagia &/or aspiration risk.
  • Assess for signs & symptoms of constipation.
Eyes Ophthalmology evalTo assess for strabismus, abnormal ocular movement, best corrected visual acuity, refractive errors, & reduced vision that may require referral for subspecialty care &/or low vision services
Ears Audiology evalTo assess for hearing loss
Cardiovascular EchocardiogramTo assess for unrecognized congenital heart disease, specifically atrial septal defects
Genitourinary Testicular exam in malesTo assess for cryptorchidism & retractile testes
Endocrine Thyroid function tests, which may incl TSH, T4 &/or free T4To screen for hypothyroidism
Genetic counseling By genetics professionals 2To inform affected persons & their families re nature, MOI, & implications of BRYLIB 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; BRYLIB = Bryant-Li-Bhoj neurodevelopmental syndrome; MOI = mode of inheritance; OT = occupational therapy; PT = physical therapy; TSH = thyroid-stimulating hormone; T4 = thyroxine

1.

Some affected individuals may have increased weight, tall stature, or macrocephaly.

2.

Medical geneticist, certified genetic counselor, certified advanced genetic nurse

From: Bryant-Li-Bhoj Neurodevelopmental Syndrome

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