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Table 3 Summary of clinical recommendations for assessment

From: Phelan-McDermid syndrome: a review of the literature and practice parameters for medical assessment and monitoring

Medical specialty Common clinical features Assessments
Clinical genetics Large fleshy hands Dysmorphology exam
Bulbous nose  
Long eyelashes  
Prominent/dysplastic ears  
Hypoplastic/dysplastic nails  
Dolichocephaly  
Molecular genetics   Chromosomal microarray
  Chromosome analysis (to identify ring chromosomes)
  Sanger or next generation sequencing (for mutations)
  Fluorescence in situ hybridization (to identify balanced rearrangements in parents)
Psychiatry Autism spectrum disorder Gold standard diagnostic assessments
Psychology Aberrant behavior Psychiatric evaluation
Intellectual disability Cognitive and adaptive behavior testing
Absent or delayed speech Speech and language evaluation
Neurology Seizures Overnight video electroencephalography
Structural brain abnormalities Brain imaging and head circumference monitoring
Feeding difficulties Feeding therapy evaluation
Hypotonia Occupational and physical therapy evaluations
Motor skill deficits  
Endocrinology Short/tall stature Monitor height, weight, and body mass index
Hypothyroidism Metabolic work-up, including thyroid function
  Nutritional assessment
Nephrology Vesicoureteral reflux Renal and bladder ultrasonography
Urinary tract infections Voiding cystourethrogram
Hydronephrosis Monitoring of blood pressure
Renal cysts, hypoplasia, or agenesis  
Cardiology Congenital heart defects Electrocardiography
  Echocardiography
Gastroenterology Gastroesophageal reflux Referral for dietary changes and/or medication
Constipation/diarrhea Bowel regimens
Pica Referral to behavioral therapy
Primary care/developmental pediatrics Upper respiratory tract infections Careful and consistent monitoring and management
Recurring ear infections Referral to otolaryngology, ophthalmology, physiatry, dental, and orthopedics
Hearing and vision problems  
Lymphedema  
Dental problems  
Decreased perspiration/heat intolerance