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.
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.
COMMON FEATURES OF OCNDS
Symptom | Potential Impact | Recommended Evaluation | Recommended Intervention |
---|---|---|---|
Microcephaly | Smaller head size | MRI if needed | None |
Hypotonia | Trouble with: Mobility Activities of Daily Living Loose/hyperextensible joints due to reduced muscle 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 MR | 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 |
RECOMMENDED INTERVENTIONS FREQUENCY
Maximizing on therapies, especially through early development has been proven beneficial. 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.
DEVELOPMENT DELAYS MANAGEMENT
Per Gene Reviews Article: OCNDS Gene Review
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
Referral to an early intervention program is recommended for access to occupational, physical, speech, and feeding therapy as well as infant mental health services, special educators, and sensory impairment specialists. In the US, early intervention is a federally funded program available in all states that provides in-home services to target individual therapy needs.
In the US, developmental preschool through the local public school district is recommended. Before placement, an evaluation is made to determine needed services and therapies and an individualized education plan (IEP) is developed for those who qualify based on established motor, language, social, or cognitive delay. The early intervention program typically assists with this transition. Developmental preschool is center based; for children too medically unstable to attend, home-based services are provided.
Consultation with a developmental pediatrician is recommended to ensure the involvement of appropriate community, state, and educational agencies (US) and to support parents in maximizing quality of life. Some issues to consider:
IEP services:
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.
Consider evaluation for alternative means of communication (e.g., augmentative and alternative communication [AAC]) for individuals who have expressive language difficulties. An AAC evaluation can be completed by a speech language pathologist who has expertise in the area. The evaluation will consider cognitive abilities and sensory impairments to determine the most appropriate form of communication. AAC devices can range from low-tech, such as picture exchange communication, to high-tech, such as voice-generating devices. Contrary to popular belief, AAC devices do not hinder verbal development of speech, but rather support optimal speech and language development.
The field of assistive technology has come a long way and can expand abilities. Some examples include communication devices, communication buttons, speech to text, typing, and read/write programs.
Physical therapy is recommended to maximize mobility and to reduce the risk for later-onset orthopedic problems. Consider use of durable medical equipment and positioning devices as needed (e.g., wheelchairs, walkers, bath chairs, orthotics, adaptive strollers). Occupational therapy is recommended for difficulty with fine motor skills that affect adaptive function such as feeding, grooming, dressing, and writing.
Infant feeding difficulties are common and manifest as poor suck in early infancy or difficulty transitioning to solid foods later in infancy. Feeding and swallowing difficulties may require gastrostomy tube placement. Constipation is common.
Crooked (misaligned) teeth and cavities are common symptoms of OCNDS.
ALTERNATIVE THERAPIES
These are interventions that our families have tried and recommended.
Specialist our families have tried and recommended:
REGIONAL AMBASSADOR PROGRAM
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.
USEFUL RESOURCES
We are focused on finding a cure for Okur-Chung Neurodevelopmental Syndrome and ensuring affected individuals have the opportunities and supports necessary for happy and full lives. CSNK2A1 Foundation is operated and funded through a committed team of volunteers, advocates and researchers.
We are a 501(c)(3) non-profit organization. EIN #82-4220939.
© 2023 CSNK2A1 Foundation
1929 Van Ness Avenue
San Francisco, CA 94109
(415) 483-2488
The information provided is not intended to be a substitute for professional medical advice, diagnosis or treatment. Never disregard professional medical advice, or delay in seeking it, because of something you have read on this website. Read more...
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