Diagnostic Criteria

No consensus clinical diagnostic criteria for Okur-Chung neurodevelopmental syndrome (OCNDS) have been published.

Suggestive Findings

OCNDS should be considered in individuals with the following clinical findings.

Clinical findings

• Mild-to-moderate developmental delay (DD) or intellectual disability (ID)

• Generalized hypotonia in infancy and/or childhood

• Speech delay

AND

• Any of the following features presenting in infancy or childhood:

• Infant feeding difficulties

• Seizures, ranging from a single seizure event to intractable epilepsy

• Behavioral findings including stereotypic movements, autism spectrum disorder, aggressiveness and tantrums, and attention-deficit/hyperactivity disorder

• Slow growth, failure to thrive, or difficulty gaining weight

• Nonspecific dysmorphic features (See .)

Source: GeneReviews — "Okur-Chung Neurodevelopmental Syndrome"

Differential Diagnosis

Because the phenotypic features associated with Okur-Chung neurodevelopmental syndrome (OCNDS) are not sufficient to diagnose this condition, all disorders 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.

Source: GeneReviews — "Okur-Chung Neurodevelopmental Syndrome"

Management Guidelines

No clinical practice guidelines for Okur-Chung neurodevelopmental syndrome (OCNDS) have been published. Evaluations Following Initial Diagnosis To establish the extent of disease and needs in an individual diagnosed with OCNDS, the evaluations summarized (if not performed as part of the evaluation that led to diagnosis) are recommended. Table 3. Recommended Evaluations Following Initial Diagnosis in Individuals with Okur-Chung Neurodevelopmental Syndrome

Source: GeneReviews — "Okur-Chung Neurodevelopmental Syndrome"

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 — "Okur-Chung Neurodevelopmental Syndrome"

Surveillance Guidelines

Table 5.

Recommended Surveillance for Individuals with Okur-Chung Neurodevelopmental Syndrome

System/Concern | Evaluation | Frequency

Feeding/Growth

| • Measure growth parameters growth velocity.1

• Evaluate 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, mvmt disorders, poor coordination.

Development

| 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

Gastrointestinal

| Monitor for ongoing feeding issues signs/symptoms of constipation.

Immunologic

| Monitor for evidence of frequent or unusual infections.2

Respiratory/Sleep

| Monitor for signs/symptoms of sleep disturbance.

Family/

Community

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

Eyes | Ophthalmologic assessment | Every 1-3 yrs

OT = occupational therapy; PT = physical therapy

1. Low threshold for evaluation for growth hormone deficiency in those with a poor growth velocity

2. Consider assessment of quantitative immunoglobulins and referral to immunologist, if present.

Source: GeneReviews — "Okur-Chung Neurodevelopmental Syndrome"