Table 6.

Shashi-Pena Syndrome: Recommended Surveillance

System/ConcernEvaluationFrequency
Constitutional
  • Measure growth parameters.
  • Evaluate nutritional status & safety of oral intake.
At each visit
Development Monitor developmental progress & educational needs.
Neurobehavioral/Psychiatric 1
  • Monitor for difficulties w/attention, anger outbursts, & aggression.
  • Monitor for signs of ADHD, autism spectrum disorder, & anxiety.
Neurologic
  • Monitor those w/seizures as clinically indicated.
  • Assess for new manifestations such as seizures & changes in tone.
  • Monitor for signs/symptoms of temperature dysregulation.
Respiratory Monitor for signs/symptoms of sleep apnea.
Gastrointestinal Monitor for signs of feeding difficulty.
Musculoskeletal
  • Physical medicine, OT/PT assessment of mobility, self-help skills
  • Clinical exam for scoliosis/kyphosis
Spine radiographsAs clinically indicated
DXA scan
Dental Dental &/or orthodontic evalAs clinically indicated for those w/more significant dental issues
Eyes Ophthalmology evalAnnually or as clinically indicated
Endocrine
  • Assess for signs/symptoms of hypoglycemia.
  • Monitor & educate caregivers re symptoms of hypoglycemia or hyperglycemia.
At each visit
Blood glucose monitoringAs clinically indicated
Hearing Audiology eval
Family/Community Assess family need for social work support (e.g., palliative/respite care, home nursing, other local resources), care coordination, or follow-up genetic counseling if new questions arise (e.g., family planning).At each visit

ADHD = attention-deficit/hyperactivity disorder; DXA = dual-energy x-ray absorptiometry; OT = occupational therapy; PT = physical therapy

1.

Referral to a developmental pediatrician or mental health provider with experience working with children with complex needs may be indicated.

From: Shashi-Pena Syndrome

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