Table 4.

Recommended Evaluations Following Initial Diagnosis in Individuals with ESCO2 Spectrum Disorder

System/ConcernEvaluationComment
Growth
restriction 		Measure height, weight, head circumference.Assess for evidence of failure to thrive.
Limb
malformations 		Multidisciplinary clinic assessment by orthopedist, physical medicine, OT, PTAssess:
  • Gross motor & fine motor skills, contractures;
  • Need for adaptive devices to improve fine motor & gross motor skills;
  • Possible need for: surgery to improve prehensile hand grasp; prostheses.
Cleft lip/palate Multidisciplinary craniofacial team assessmentAssess:
  • Effect of lip & palatal anomalies on feeding, speech development;
  • Need for surgical interventions.
DD/ID Developmental assessmentTo incl:
  • Motor, speech-language evaluation, & general cognitive skills
  • Evaluation for early intervention/special education
Genital
abnormalities 		Assessment by pediatricianReferral to pediatric urologist for further evaluation of cryptorchidism & hypospadias
Renal anomalies Ultrasound examinationTo assess for polycystic or horseshoe kidney
Heart defects Assessment by pediatric cardiologist for structural heart defectsAtrial & ventricular septal defects, PDA
Eye
abnormalities 		Assessment by pediatric ophthalmologist
  • Newborn: corneal opacities
  • Adolescence, early adulthood: cranial nerve III cavernous angioma
Infection
susceptibility 		Assessment by pediatric immunologistNeonatal: ↑ risk of infections, Ig levels in serum
Intracranial
aneurysms 		Assessment by neurologistBrain scan for vascular malformation & moyamoya diseases
Malignancy Assessment by dermatologistMelanoma, rhabdomyosarcoma
Genetic
counseling 		By genetics professionals 1To inform affected persons & families re nature, MOI, & implications of ESCO2 spectrum disorder to facilitate medical & personal decision making
Family support
& resources 		Assess:
  • Use of community or online resources such as Parent to Parent;
  • Need for social work involvement for parental support;
  • Need for home nursing referral.

DD = developmental delay; ID = intellectual disability; MOI = mode of inheritance; OT = occupational therapist; PT = physical therapist

1.

Medical geneticist, certified genetic counselor, certified genetic nurse

From: ESCO2 Spectrum Disorder

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