Clinical Guidance

WAC-related intellectual disability is typically characterized by variable degrees of developmental delay and/or intellectual disability. Behavioral abnormalities including anxiety, attention-deficit/hyperactivity disorder, and/or autism spectrum disorder are observed in the majority of older children and adults. Most affected infants have significant but nonspecific features at birth such as neonatal hypotonia and feeding problems. Some affected individuals come to medical attention because of respiratory or vision problems; constipation is common. Although facial features may be mildly dysmorphic, they may not be observed universally and/or are often not specific enough to allow diagnosis. To date, 18 individuals have been identified with a pathogenic variant in WAC [, , , ].

Diagnostic Criteria

No formal clinical diagnostic criteria exist for WAC-related intellectual disability.

Suggestive Findings

WAC-related intellectual disability (ID) should be considered in individuals with SOME OR ALL of the following suggestive findings:

Source: GeneReviews — "WAC-Related Intellectual Disability"

Management Guidelines

Evaluations and Referrals Following Initial Diagnosis To establish the extent of disease and needs in an individual diagnosed with WAC-related intellectual disability, the evaluations and referrals outlined in are recommended. Note: Some evaluations are age dependent and may not be relevant at the time of initial diagnosis (e.g., recommendation for traits suggestive of autism spectrum disorder [ASD] in an infant). Table 3. Recommended Evaluations and Referrals Following Initial Diagnosis of WAC-Related Intellectual Disability

Surveillance Guidelines

The following are appropriate.

Table 5.

Recommended Surveillance for Individuals with WAC-Related Intellectual Disability

System/Concern | Evaluation1

Eyes | Ophthalmologic eval

ENT/Mouth

| Audiologic eval