Understanding
Okur-Chung Neurodevelopmental Syndrome
Note: This is for informational and educational purposes only and does not substitute professional medical advice or consultations with healthcare professionals. Please consult with your medical professional team for medical advice.
Original Publication:
OCNDS is a neurodevelopmental syndrome caused by variants (‘mutations’) in the CSNK2A1 gene, which OCNDS is located on Chromosome 20.
OCNDS is diagnosed through molecular genetic testing, more commonly through genetic blood tests such as Whole Exome Sequencing (WES) or Whole Genome Sequencing (WGS).
Everyone is born with two copies of the
CSNK2A1 gene. OCNDS is an autosomal dominant condition which means that one copy of the gene is healthy, and the other copy has a mutation causing the syndrome. Typically, the mutation is de novo or "new" which means that it was not present in either parent.
When OCNDS is de novo or new (meaning neither parent has the mutation), if the parents have more children, they have less than a 1% risk of having another affected child. Individuals with OCNDS have a 50% chance of passing it on to their children.
The impact of OCNDS varies in occurrence and severity between individuals. The table summarizes the main symptoms reported in publications about individuals with OCNDS. Developmental delay affects all areas of development, but language is more impaired than gross motor skills in most individuals. Please note that these symptoms may or may not be present for everyone with the diagnosis.
| Symptom | Potential Impact | Recommended Evaluation | Recommended Intervention |
|---|---|---|---|
| Microcephaly | Smaller head size | MRI if needed | None |
| Hypotonia | Trouble with: Mobility Activities of Daily Living Loose/le joints due to reduced mushyperextensibcle tone | Physical Therapy Occupational Therapy | PT & OT Physical medicine & rehab Orthopedics |
| Speech Delays | Speech Delay | Speech Evaluation AAC evaluation | Speech Therapy Alternative Communication Methods |
| Vision Difficulties | Strabismus & refractive error | Ophthalmologic assessment | Ophthalmologic assessment every 1-3 yrs |
| Feeding Challenges | Trouble chewing and swallowing, feeding refusal | Feeding Therapy (usually from an occupational or speech therapist) | Possible need for a NG-tube or G-tube |
| Gastrointestinal Challenges | Constipation | Monitor for ongoing feeding issues & signs/symptoms of constipation | Stool softeners, prokinetics, osmoticagents, or laxatives as needed |
| Seizures | Varying types | Neurology (EEG) & head MRI | None |
| Global Developmental Delay | Affects all areas of development: language and motor skills | Developmental Pediatrics | Regular and frequent therapies |
| Sleep Challenges | Trouble falling asleep or staying asleep, sleep apnea | Sleep disorder clinic Sleep study | None |
| Learning Disabilities | Challenges at school | Special Education Team | Special accommodations Hypotonia and communication support |
| Behavioral | Stereotypic movements Autism spectrum disorder Aggressiveness and tantrums ADD/ADHD | Individualized Education Plan (IEP) | Environmental supports: least restrictive environment |
| Oral Structural Differences | Crooked (misaligned) teeth and cavities | Dentist or Orthodontics | Dental treatments Potential orthodontics treatment |
| Musculoskeletal | Scoliosis, kyphoscoliosis (less common) | Orthopedist | None |
| Heart Condition | Congenital heart defects | Cardiologist (ECG), Echocardiography | Regular cardiologist monitoring |
| Sensory Challenges | Autism | Applied Behavior Analysis (ABA) | Consultation with a developmental pediatrician |
Maximizing on therapies, especially through early development has been shown to have benefits. Families are encouraged to access therapies without sacrificing their mental health and the quality of life of the entire family. We recommend that you connect with local disability groups to get a better understanding of available resources.
Per Gene Reviews Article: OCNDS GeneReviews
Consultation with a developmental pediatrician is recommended to ensure the involvement of appropriate community, state, and educational agencies and to support parents in maximizing quality of life.
The following information represents typical management recommendations for individuals with developmental delay in the United States; standard recommendations may vary from country to country
A 504 plan (Section 504: a US federal statute that prohibits discrimination based on disability) can be considered for those who require accommodations or modifications such as front-of-class seating, assistive technology devices, classroom scribes, extra time between classes, modified assignments, and enlarged text.
Developmental Disabilities Administration (DDA) enrollment is recommended. DDA is a US public agency that provides services and support to qualified individuals. Eligibility differs by state but is typically determined by diagnosis and/or associated cognitive/adaptive disabilities.
Families with limited income and resources may also qualify for supplemental security income (SSI) for their child with a disability.
These are interventions that our families have tried and recommended.
Specialist our families have tried and recommended:
Our regional ambassadors are responsible for building a supportive OCNDS community within their assigned region. Regional ambassadors connect with families as they navigate the social and emotional challenges of diagnosis, treatment, and management. To best support our global community, OCNDS Regional Ambassadors span across regions and languages including English, German, Norwegian, Spanish and Dutch. You can connect with your local community and access local resources as well as participate in virtual and in-person regional events. Email info@csnk2a1foundation.org to learn more.