Clinical Guidance

No genotype-phenotype correlations for ASXL3 have been identified.

Source: GeneReviews — "ASXL3-Related Disorder"

Diagnostic Criteria

Formal clinical diagnostic criteria for ASXL3-related disorder have not been established.

Suggestive Findings

ASXL-related disorder should be considered in individuals with the following clinical findings:

Source: GeneReviews — "ASXL3-Related Disorder"

Differential Diagnosis

Because the clinical presentation of ASXL3-related disorder is typically nonspecific global developmental delay, all disorders associated with intellectual disability without other distinctive findings should be considered in the differential diagnosis. See OMIM Autosomal Dominant, Autosomal Recessive, Nonsyndromic X-Linked, and Syndromic X-Linked Intellectual Developmental Disorder Phenotypic Series. Note: Heterozygous pathogenic variants ASXL1 and ASXL2, the other two genes in the ASXL gene family , are associated with Bohring-Opitz syndrome (BOS) and Shashi-Pena syndrome, respectively.

Source: GeneReviews — "ASXL3-Related Disorder"

Management Guidelines

Consensus clinical management guidelines for ASXL3-related disorder have not been published. Evaluations Following Initial Diagnosis To establish the extent of disease and needs in an individual diagnosed with ASXL3-related disorder, the evaluations summarized (if not performed as part of the evaluation that led to the diagnosis) are recommended. Table 3. Recommended Evaluations Following Initial Diagnosis in Individuals with ASXL3-Related Disorder

Source: GeneReviews — "ASXL3-Related Disorder"

Therapies Under Investigation

Search ClinicalTrials.gov in the US and EU Clinical Trials Register in Europe for access to information on clinical studies for a wide range of diseases and conditions. Note: There may not be clinical trials for this disorder.

Source: GeneReviews — "ASXL3-Related Disorder"

Surveillance Guidelines

Table 5.

Recommended Surveillance for Individuals with ASXL3-Related Disorder

System/Concern

|

Evaluation

|

Frequency

Development

| Monitor developmental progress educational needs. | At each visit

Psychiatric/

Behavioral

| Behavioral assessment for attention aggressive or self-injurious behavior

Feeding

| • Measurement of growth parameters

• Eval of nutritional status signs/symptoms of GERD or feeding aversion

Neurologic

| • Monitor those w/seizures as clinically indicated.

• Assess for new manifestations incl seizures changes in tone.

Musculoskeletal

| Physical medicine, OT/PT assessment of mobility, self-help skills

Respiratory

| Assess for signs/symptoms of sleep disturbance sleep apnea.

Miscellaneous/

Other

| Assess family need for social work support (e.g., palliative/respite care, home nursing, other local resources) care coordination.

Dental

| Eval by dentist | Every 6 mos after age 3 yrs or as clinically indicated

Eyes | Ophthalmology eval | Annually or as clinically indicated

GERD = gastroesophageal disease; OT = occupational therapy; PT = physical therapy

Source: GeneReviews — "ASXL3-Related Disorder"