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. Author manuscript; available in PMC: 2016 Dec 1.
Published in final edited form as: Am J Med Genet A. 2015 Sep 3;167A(12):2916–2935. doi: 10.1002/ajmg.a.37340

Table VII.

Suggested Evaluations and Health Surveillance/Treatment for Dup7

System Initial Evaluation Surveillance/Treatment
Genetic Evaluate parents for duplication Provide genetic counseling
Neurological Neurological examination
MRI of the brain
Physical therapy evaluation
Occupational therapy evaluation
Monitor head circumference
Treat seizures
Physical therapy for Developmental Coordination Disorder
Occupational therapy if needed
Psychological/Psychiatric Developmental evaluation
Neuropsychological evaluation
Gold-standard autism evaluation
Treat ADHD, Anxiety, ODD
Autism treatment if needed
Speech and Language Speech-language evaluation Speech therapy for Speech Sound Disorder, language therapy if language disorder is present
Endocrinological If short stature is present, test for growth hormone deficiency Monitor growth
Cardiovascular Evaluate for PDA
Echocardiogram measurement of the aortic root and ascending aorta with calculation of Z scores
Yearly echocardiogram, but more frequently if aortic dilation is detected
Gastrointestinal Evaluate for constipation Aggressively treat constipation
Genitourinary Renal ultrasound
Evaluate for cryptorchidism
If renal malformation is present in a female, evaluate Mullerian structures

Abbreviations: ADHD = attention deficit hyperactivity disorder; ODD = oppositional defiant disorder; PDA = Patent ductus arteriosus