Table 7.

Phelan-McDermid Syndrome-SHANK3 Related: Recommended Surveillance

System/ConcernEvaluationFrequency/Comment
Feeding
  • Measure growth parameters.
  • Evaluate nutritional status & safety of oral intake.
At each visit
Gastrointestinal Monitor for signs & symptoms of GERD.
Neurologic
  • Monitor those w/seizures as clinically indicated.
  • Assess for new manifestations such as seizures, changes in tone, & developmental regression.
Development Monitor developmental progress & educational needs.
Neurobehavioral/
Psychiatric 		Assess for anxiety, ADHD, ASD, aggression, & self-injury. 1
Sleep Monitor for signs/symptoms of sleep apnea & sleep disturbance.
Hearing Audiology evalAnnually in childhood or as clinically indicated
Eyes Ophthalmology eval to screen for refractive errors & strabismus
Endocrine Assess thyroid function.In those w/poor growth or as clinically indicated
Monitor for signs & progression of puberty.At each visit in childhood & adolescence
Dental Evaluate for tooth decay, malocclusion, & crowding.At regular intervals
Lymphatics Monitor for lymphedema.At each visit in teen & adult years

ADHD = attention-deficit/hyperactivity disorder; ASD = autism spectrum disorder; GERD = gastroesophageal reflux disease

1.

Educate caregivers about a heightened awareness of potential injuries or infections due to decreased perception of pain.

From: Phelan-McDermid Syndrome-SHANK3 Related

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