Table 4.

Recommended Evaluations Following Initial Diagnosis in Individuals with DYRK1A Syndrome

System/ConcernEvaluationComment
Development Developmental assessment
  • To incl motor, adaptive, cognitive, & speech/language eval
  • Eval for early intervention / special education
Neuromuscular Orthopedics / physical medicine & rehab / PT evalTo incl assessment of:
  • Ambulation
  • Hypertonia & spine curvature
  • Mobility, ADL, & need for adaptive devices
Gastrointestinal/
Feeding 		Gastroenterology / nutrition / feeding team eval
  • To incl eval of aspiration risk & nutritional status & gastroesophageal reflux
  • Consider eval for gastric tube placement in those w/dysphagia &/or aspiration risk.
  • Eval for constipation &/or overflow diarrhea
Neurologic Neurologic eval
  • Consider brain MRI.
  • Consider EEG if seizures are a concern.
Psychiatric/
Behavioral 		Neuropsychiatric evalFor persons age >12 mos: screening for behavior concerns incl sleep disturbances, ADHD, anxiety, &/or traits suggestive of ASD
Sleep history Sleep evalIncl polysomnography/EEG when indicated
Eyes Ophthalmologic evalTo assess for ↓ vision, abnormal ocular movement, strabismus, hypermetropia, & retina exam
Cardiovascular Cardiologic eval to incl echocardiogramFor valve, aorta, & septal defects
Urogenital
anomalies 		Urogenital eval to incl renal ultrasoundFor structural renal defects & undescended testes/hypospadias
Dental
anomalies 		Dental examFor wide spaced teeth, supernumerary teeth, & ↑ calculus
Genetic
counseling 		By genetics professionals 1To inform affected persons & their families re nature, MOI, & implications of DYRK1A syndrome to facilitate medical & personal decision making
Family support
& resources 		DYRK1A​.org Assess need for:

ADHD = attention-deficit/hyperactivity disorder; ADL = activities of daily living; ASD = autism spectrum disorder; MOI = mode of inheritance; PT = physical therapy

1.

Medical geneticist, certified genetic counselor, or certified advanced genetic nurse

From: DYRK1A Syndrome

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