Diagnostic Criteria

Suggestive Findings

Maternal 15q duplication syndrome (maternal dup15q) should be suspected in individuals with the following clinical features:

• Moderate-to-severe hypotonia in infancy and early delays in reaching motor milestones

• Developmental delay that includes not only motor but also language

• Intellectual disability (ID)

• Autism spectrum disorder (ASD)

• Seizures, particularly infantile spasms

• Dysmorphic features including upturned nose, epicanthal folds, and downslanting palpebral fissures

• Behavioral difficulties including hyperactivity, anxiety, or emotional lability

• A characteristic EEG biomarker involving excessive beta oscillations (12–30Hz)

Establishing the Diagnosis

The diagnosis of maternal dup15q is established in a proband by detection of at least one extra maternally derived copy o...

Source: GeneReviews — "Maternal 15q Duplication Syndrome"

Differential Diagnosis

Phenotypic features associated with maternal 15q duplication syndrome (maternal dup15q) are not sufficient for diagnosis. All chromosome anomalies and genes known to be associated with intellectual disability (ID) should be included in the differential diagnosis of maternal dup15q. See OMIM Autosomal Dominant, Autosomal Recessive, Nonsyndromic X-Linked, and Syndromic X-Linked Intellectual Developmental Disorder Phenotypic Series.

Source: GeneReviews — "Maternal 15q Duplication Syndrome"

Management Guidelines

Evaluations Following Initial Diagnosis To establish the extent of disease and needs in an individual diagnosed with maternal 15q duplication syndrome (maternal dup15q), the evaluations summarized (if not performed as part of the evaluation that led to diagnosis) are recommended. Table 4 Recommended Evaluations Following Initial Diagnosis in Individuals with Maternal 15q Duplication Syndrome

Source: GeneReviews — "Maternal 15q Duplication Syndrome"

Clinical Guidance

Seizure triggers (e.g., sleep deprivation, stress, and failure to follow medication regimen) should be avoided.

Source: GeneReviews — "Maternal 15q Duplication Syndrome"

Therapies Under Investigation

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

Source: GeneReviews — "Maternal 15q Duplication Syndrome"

Surveillance Guidelines

Table 6.

Recommended Surveillance for Individuals with Maternal 15q Duplication Syndrome

System/Concern | Evaluation | Frequency

Feeding

| • Measurement of growth parameters

• Eval of nutritional status safety of oral intake

| At each visit

Neurologic

| • Monitor those w/seizures as clinically indicated.

• Assess for new manifestations such as seizures, changes in tone, movement disorders.

Developmental

| Monitor developmental progress educational needs.

Psychiatric/

Behavioral

| Behavioral assessment for anxiety, attention, aggressive or self-injurious behavior

Musculoskeletal

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

Family/

Community

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

OT = occupational therapy; PT = physical therapy

Source: GeneReviews — "Maternal 15q Duplication Syndrome"