Table 5.

Recommended Evaluations Following Initial Diagnosis in an Individual with a CHD7 Disorder

System/ConcernEvaluationComment
Constitutional Measurement of weight, length/height, & head circumferenceTo assess for growth failure &/or obesity
Eyes Ophthalmology eval
  • Best corrected visual acuity; assess for refractive error, possible amblyopia
  • Assess for iris coloboma, photophobia, & possible corneal exposure due to VIIth nerve palsy.
  • Dilated fundus exam for chorioretinal coloboma, optic nerve coloboma, retinal detachment
  • Functional visual assessment incl visual fields in older individuals
Hearing /
Vestibular
involvement 		Audiology eval 1Assess for conductive & sensorineural hearing impairment.
Clinical assessment for balance issues
MRI/CT temporal boneEvaluate semicircular canals, cochlea, & cranial nerves (see Figure 5 for details).
Nose/Throat Clinical eval for choanal atresia/stenosis
  • Suggestive findings in neonates & infants incl apnea & unilateral nasal discharge
  • Referral to otolaryngologist
Assessment for tracheoesophageal fistulaIf:
  • Aspiration pneumonia
  • Coughing or choking w/feeding
  • Infant has a full, round abdomen
Tonsils & adenoidsIf evidence of obstructive apnea
Mouth Clinical eval for cleft palate, submucous cleft palate, & velopharyngeal insufficiencyConsider referral to craniofacial team.
Baseline eval by dentist, typically from age ~3 yrs (or earlier in those w/cleft palate)
  • Abnormal shape & # of teeth 2
  • Complications due to craniofacial abnormalities &/or bruxism
Cardiovascular EKG & echocardiogram 3Referral to cardiologist as indicated
Respiratory Consider polysomnogram.To assess for sleep apnea
Consider pulmonary function tests.In older individuals w/severe scoliosis who may have restrictive lung disease
Gastrointestinal/
Feeding 		Assess for signs & symptoms of dysphagia & aspiration.Consider VFSS & nutrition/feeding team eval for those w/suggestive features or aspiration & pneumonia.
Assess for history of GERD & GI motility issues. 4Referral to GI specialist as indicated
Genitourinary Males: assess for micropenis &/or cryptorchidism.
  • Cryptorchidism: referral to urologist
  • Micropenis: see Endocrine in this table
Females: consider pelvic ultrasound examination.
  • To assess for uterine & ovarian anomalies
  • Note that ability of US exam &/or MRI to detect uterine anomalies in prepubertal girls is limited.
Musculoskeletal Clinical assessment for scoliosis
  • Consider spine radiographs as a baseline.
  • Consider referral to orthopedist.
Neurologic Clinical assessment for cranial nerve abnormalities
  • To incl assessment for swallowing dysfunction (See Gastrointestinal/Feeding in this table.)
  • If present, consider CT &/or MRI imaging 5
Cranial MRI & EEG if seizures are suspectedConsider referral to neurologist.
Development Developmental assessment
  • A team approach is necessary.
  • Incl motor, speech/language eval, general cognitive abilities, educational needs, &/or vocational opportunities.
  • Incl appropriate testing to assess cognitive function in those w/sensory deficits.
  • Abilities may be underestimated, especially in early yrs.
  • Evaluate for early intervention/special education, referral to deaf-blind programs when appropriate.
Psychiatric/
Behavioral 		Consider neuropsychiatric eval.
  • Adapt testing environment as needed to ↑ patient comfort.
  • Screen for ADHD, anxiety, obsessive-compulsive symptomatology.
Endocrine
  • Males w/micropenis: consider HCG stimulation test, ideally before age 6 mos.
  • Males & females w/delayed or absent puberty: eval for hypogonadotropic hypogonadism 6
Anosmia may be indicative for GnRH dysfunction.
  • Measure calcium & vitamin D levels. 7
  • Thyroid function tests
  • Consider referral to endocrinologist.
Renal Renal US examTo assess for renal anomalies, hydronephrosis, & calcifications
Blood pressure measurementTo assess for hypertension
Immune Consider immunologic eval 8 & referral to immunologist.For those w/recurrent or unexplained infection
Genetic
counseling 		By genetics professionals 9To inform affected persons & their families re nature, MOI, & implications of CHD7 disorder to facilitate medical & personal decision making
Family support
& resources 		Assess need for:

ADHD = attention-deficit/hyperactivity disorder; GERD = gastroesophageal reflux disease; GnRH = gonadotropin-releasing hormone; HCG = human chorionic gonadotropin; MOI = mode of inheritance; US = ultrasound; VFSS = video fluoroscopic swallow study

1.

See Hereditary Hearing Loss and Deafness Overview for details about audiologic evaluations. Also perform audiology evaluation when there was a normal newborn hearing screen.

2.
3.

To assess for arrhythmias and structural heart defects including vascular anomalies [Corsten-Janssen et al 2013]

4.

Other issues may include malrotation, constipation, chronic abdominal pain, bloating, and late dumping syndrome [Morgan et al 2017].

5.
6.

May include measurement of serum concentration of luteinizing hormone, follicle-stimulating hormone, and sex hormones (total testosterone in males, estrogen in females). See also Isolated Gonadotropin-Releasing Hormone (GnRH) Deficiency.

7.

In adolescents and adults

8.

May include immunoglobulin levels (IgG, IgM, IgA) and T and B cell subsets in case of a history of recurrent infections [Wong et al 2015a]

9.

Medical geneticist, certified genetic counselor, or certified advanced genetic nurse

From: CHD7 Disorder

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