Table 3.

Recommended Evaluations Following Initial Diagnosis in Individuals with 7q11.23 Duplication Syndrome

System/ConcernEvaluationComment
Development Multidisciplinary developmental assessment to incl motor, adaptive, cognitive, & speech-language eval
  • Speech-language eval preferably by examiner experienced in evaluating childhood apraxia of speech
  • PT eval
  • OT eval (incl assessment for sensory integration difficulties)
  • Eval for early intervention / special education, incl learning disability services
Neurologic Neurologic eval
  • Consider EEG if seizures are a concern.
  • Consider brain MRI in those w/macrocephaly &/or abnormal neurologic exam to evaluate for ventriculomegaly/hydrocephalus, cerebellar vermis hypoplasia, &/or white matter abnormalities. 1
Psychiatric/
Behavioral 		Neuropsychiatric evalAge >12 mos: screening for behavior concerns (preferably by licensed psychologist) incl:
  • Anxiety (e.g., social anxiety disorder, selective mutism, separation anxiety, generalized anxiety disorder)
  • Attention issues
  • ASD. If indicated, refer for gold-standard autism assessment (ADOS-2 and ADI-R, + clinical judgment) 2 – preferably by examiner experienced w/persons w/social anxiety &/or selective mutism.
  • Oppositional behavior/aggression. If indicated, refer for functional behavioral assessment, preferably by board-certified behavior analyst.
Cardiologic Cardiologic evalIncl echocardiogram, w/measurement of aortic root & ascending aorta w/computation of z scores to evaluate for aortic dilatation
GI/Feeding Gastroenterology / nutrition / feeding team eval
  • To incl eval of aspiration risk & nutritional status
  • Consider eval for gastrostomy tube placement in those w/dysphagia &/or aspiration risk.
Growth/
Endocrine 		Plotting of growth parametersEvaluate those w/short stature for growth hormone deficiency.
Genitourinary Renal ultrasoundAlso:
  • Males: physical exam for cryptorchidism
  • Females w/unilateral renal agenesis: eval of müllerian structures
Eyes Ophthalmologic evalTo assess for ↓ vision, abnormal ocular movement, strabismus
Hearing Audiologic evalAssess for hearing loss.
Musculoskeletal Orthopedics / physical medicine & rehab / PT & OT evalTo incl assessment of:
  • Gross motor & fine motor skills
  • Contractures, clubfoot, kyphoscoliosis
  • Mobility, ADL, need for adaptive devices
  • Need for PT (to improve gross motor skills) &/or OT (to improve fine motor skills)
Genetic
counseling 		By genetics professionals 3To inform affected persons & their families re nature, MOI, & implications of 7q11.23 duplication syndrome to facilitate medical & personal decision making
Family support
& resources 		Social workAssess need for:
  • Community or online resources such as Parent to Parent;
  • Social work involvement for parental support;
  • Home nursing or respite care referral.

ADHD = attention-deficit/hyperactivity disorder; ADL = activities of daily living; ADI-R = Autism Diagnostic Interview Schedule – Revised; ADOS = Autism Diagnostic Observation Schedule; ASD = autism spectrum disorder; GI = gastrointestinal; MOI = mode of inheritance; OT = occupational therapy; PT = physical therapy

1.

Because sedation is likely to be necessary for brain MRI, this should be weighed carefully and may not be necessary in every individual.

2.
3.

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

From: 7q11.23 Duplication Syndrome

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