ADHD = attention-deficit/hyperactivity disorder; ADL = activities of daily living; ASD = autism spectrum disorder; CSNK2B -NDD = CSNK2B -related neurodevelopmental disorder; MOI = mode of inheritance; OT = occupational therapy; PT = physical therapy
Medical geneticist, certified genetic counselor, certified advanced genetic nurse
There is no cure for CSNK2B -NDD. Supportive treatment to improve quality of life, maximize function, and reduce complications is recommended. This ideally involves multidisciplinary care by specialists in relevant fields (see Table 4 ).
CSNK2B -Related Neurodevelopmental Disorder: Treatment of Manifestations
Manifestation/Concern | Treatment | Considerations/Other |
---|---|---|
| See . | |
Standardized treatment w/ASM by experienced neurologist | -NDD. | |
Orthopedics / physical medicine & rehab / PT & OT incl stretching to help avoid contractures & falls | Consider need for positioning & mobility devices, disability parking placard. | |
Standardized treatment for any cardiovascular issues identified | ||
Per treating urologist | ||
Per treating endocrinologist | ||
. |
ASM = anti-seizure medication; OT = occupational therapy; PT = physical therapy
Education of parents/caregivers regarding common seizure presentations is appropriate. For information on non-medical interventions and coping strategies for children diagnosed with epilepsy, see Epilepsy Foundation Toolbox .
The following information represents typical management recommendations for individuals with developmental delay / intellectual disability in the United States; standard recommendations may vary from country to country.
Ages 0-3 years. 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.
Ages 3-5 years. 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.
All ages. 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:
Gross motor dysfunction
Fine motor dysfunction. Occupational therapy is recommended for difficulty with fine motor skills that affect adaptive function such as feeding, grooming, dressing, and writing.
Communication issues. 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.
Children may qualify for and benefit from interventions used in treatment of autism spectrum disorder, including applied behavior analysis (ABA). ABA therapy is targeted to the individual child's behavioral, social, and adaptive strengths and weaknesses and typically performed one on one with a board-certified behavior analyst.
Consultation with a developmental pediatrician may be helpful in guiding parents through appropriate behavior management strategies or providing prescription medications, such as medication used to treat attention-deficit/hyperactivity disorder, when necessary.
Concerns about serious aggressive or destructive behavior can be addressed by a pediatric psychiatrist, behavioral pediatric neurologist, or developmental pediatrician.
To monitor existing manifestations, the individual's response to supportive care, and the emergence of new manifestations, the evaluations summarized in Table 5 are recommended.
CSNK2B -Related Neurodevelopmental Disorder: Recommended Surveillance
System/Concern | Evaluation | Frequency |
---|---|---|
At each visit | ||
Monitor developmental progress & educational needs. | ||
| Assess for anxiety, ADHD, ASD, aggression, & self-injury. | |
Physical medicine, OT/PT assessment of mobility, self-help skills | ||
For those known to have cardiovascular abnormalities | Per treating cardiologist | |
Evaluate for genitourinary anomalies. | Per treating urologist | |
Assess linear growth. | Per treating endocrinologist | |
Assess family need for social work support (e.g., palliative/respite care, home nursing, other local resources), care coordination, or follow-up genetic counseling if new questions arise (e.g., family planning). | At each visit | |
Develop realistic plans for adult life (See American Epilepsy Society Transitions from Pediatric Epilepsy to Adult Epilepsy Care and .) | Starting by age ~10 yrs |
OT = occupational therapy; PT = physical therapy
See Genetic Counseling for issues related to testing of at-risk relatives for genetic counseling purposes.
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.
Genetic counseling is the process of providing individuals and families with information on the nature, mode(s) of inheritance, and implications of genetic disorders to help them make informed medical and personal decisions. The following section deals with genetic risk assessment and the use of family history and genetic testing to clarify genetic status for family members; it is not meant to address all personal, cultural, or ethical issues that may arise or to substitute for consultation with a genetics professional . —ED.
CSNK2B -related neurodevelopmental disorder ( CSNK2B -NDD) is an autosomal dominant disorder typically caused by a de novo pathogenic variant.
Parents of a proband
Sibs of a proband. The risk to the sibs of the proband depends on the genetic status of the proband's parents:
Offspring of a proband. Each child of an individual with CSNK2B -NDD has a 50% chance of inheriting the CSNK2B pathogenic variant.
Other family members. The risk to other family members depends on the status of the proband's parents: if a parent has the CSNK2B pathogenic variant, the parent's family members may be at risk.
Family planning
Once the CSNK2B pathogenic variant has been identified in an affected family member, prenatal and preimplantation genetic testing are possible.
Differences in perspective may exist among medical professionals and within families regarding the use of prenatal and preimplantation genetic testing. While most health care professionals would consider use of prenatal and preimplantation genetic testing to be a personal decision, discussion of these issues may be helpful.
GeneReviews staff has selected the following disease-specific and/or umbrella support organizations and/or registries for the benefit of individuals with this disorder and their families. GeneReviews is not responsible for the information provided by other organizations. For information on selection criteria, click here .
No specific resources for CSNK2B -Related Neurodevelopmental Disorder have been identified by GeneReviews staff.
Information in the Molecular Genetics and OMIM tables may differ from that elsewhere in the GeneReview: tables may contain more recent information. — ED.
CSNK2B-Related Neurodevelopmental Disorder: Genes and Databases
Gene | Chromosome Locus | Protein | HGMD | ClinVar |
---|---|---|---|---|
.33 |
Data are compiled from the following standard references: gene from HGNC ; chromosome locus from OMIM ; protein from UniProt . For a description of databases (Locus Specific, HGMD, ClinVar) to which links are provided, click here .
OMIM Entries for CSNK2B-Related Neurodevelopmental Disorder ( View All in OMIM )
CASEIN KINASE II, BETA; CSNK2B | |
POIRIER-BIENVENU NEURODEVELOPMENTAL SYNDROME; POBINDS |
CSNK2B encodes casein kinase II subunit beta (CK2β), a regulatory subunit of casein kinase II (CK2), a serine/threonine kinase implicated in many diverse cellular functions. The holoenzyme is a heterotetramer comprised of two catalytic alpha subunits (combinations of α and α') flanking a beta subunit, the latter specifically encoded by CSNK2B [ Niefind et al 2001 ]. Casein kinase is ubiquitously expressed with high levels of expression in the brain [ Guerra et al 1999 ]. The alpha subunit is encoded by CSNK2A1 , which has also been associated with neurodevelopmental disease [ Okur et al 2016 ] (see Okur-Chung Neurodevelopmental Syndrome ).
Mechanism of disease causation. The mechanism of disease causation in CSNK2B -related neurodevelopmental disorder is not fully understood. Because a subset of CSNK2B pathogenic variants is expected to result in reduced beta subunit expression, haploinsufficiency appears to be one important disease mechanism [ Di Stazio et al 2023 ]. Indirect support for reduced CK2β expression as a cause of nervous system dysfunction comes from experimental evidence showing altered dendritic arborization and synaptic physiology because of CSNK2B knockdown in neural stem cells [ Yang et al 2018 ]. Although reduced holoenzyme formation and activity is the presumed relevant consequence of CSNK2B haploinsufficiency, holoenzyme-independent mechanisms are also possible.
It is unclear whether some CSNK2B missense pathogenic variants might be hypomorphic alleles or have a dominant-negative effect in reducing activity of the heterotetramer in a more profound way (as proposed by Asif et al [2022] ).
CSNK2B Pathogenic Variants Referenced in This GeneReview
Reference Sequences | DNA Nucleotide Change | Predicted Protein Change | Comment [Reference] |
---|---|---|---|
.7 .3 | c.94G>A | Asp32Asn | Substitutions at p.Asp32 have been reported in persons w/ID & craniodigital anomalies [ ]. The suggestion that these missense variants cause a distinct syndrome has been challenged, as persons w/other pathogenic variants have similar phenotypes [ ]. |
c.94G>C | p.Asp32His |
ID = intellectual disability
Variants listed in the table have been provided by the authors. GeneReviews staff have not independently verified the classification of variants.
GeneReviews follows the standard naming conventions of the Human Genome Variation Society ( varnomen .hgvs.org ). See Quick Reference for an explanation of nomenclature.
Natalie Lippa, MS, CGC, is Assistant Professor of Genetic Counseling in the Department of Medicine at Columbia University Vagelos College of Physicians and Surgeons.
Maureen Mulhern, MS, MAT, CGC, is a genetic counselor in the Inter-Departmental Genetic Counseling Program, Department of Neurology, and in the Precision Genomics Laboratory at the Columbia University Vagelos College of Physicians and Surgeons.
Michelle Ernst Florido, MS, CGC, is Assistant Program Director for the Genetic Counseling Graduate Program at the Columbia University Vagelos College of Physicians and Surgeons.
Chelsea Earley, MD, is a pediatric clinical epilepsy fellow at Columbia University Irving Medical Center.
Tristan T Sands, MD, PhD, is Assistant Professor of Neurology at the Columbia University Vagelos College of Physicians and Surgeons and New York-Presbyterian Morgan Stanley Children's Hospital. Dr Sands sees patients with genetic causes of epilepsy and neurodevelopmental disability, and his laboratory conducts translational research as part of the Center for Translational Research in Neurodevelopmental Disease (CTRND).
The CTRND at Columbia University is actively involved in ongoing clinical and translational research on CSNK2B -related neurodevelopmental disorder. Contact Dr Sands ( ude.aibmuloc.cmuc@72stt ) with clinical questions or research interests.
We would like to thank the CSNK2B Neurodevelopmental Syndrome Foundation and patients with CSNK2B -NDD and their families.
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Watch CBS News
By Doug Williams
Updated on: September 6, 2024 / 12:05 PM EDT / CBS New York
NEW YORK - For thousands of families in New York City, the new school year has started with concern.
Last week, CBS News New York received a tip from a parent claiming students were being denied special education services by the city's Department of Education. It turned out to be true for non-public school students.
Whether they're home schooled or in private or charter schools, state law has dictated for years the DOE must provide additional special education services, ranging from intensive programs like speech or behavioral therapy to extra help in reading and math.
What has changed is the enforcement of a deadline. In past years, parents said they could apply for the services in August. This year, they are being denied and told they missed the June 1 deadline. But parents say they weren't warned about the deadline and that it was never enforced previously.
"What would you say to these parents who are hopeful that their kids will get these services and not have to go a year without it, and not flounder throughout the year?" CBS News New York's Doug Williams asked NYC Schools Chancellor David Banks.
"We don't want anybody to flounder. That's not the reason why we set this up. There's always been a deadline. It has been very loosely enforced for many years. We made a decision to enforce it," Banks said.
Banks went on to say the DOE is concerned about fraud, and that organizations claim to represent certain families in order to get vouchers, while the families have no idea they are being represented by those organizations, Williams reported.
"I do think there's an element of 'gotcha' here," said Rebecca Shore of Advocates for Children. "The parents that we've been speaking with, they can't afford to pay for these services. So what happens to the students for the next year really remains to be seen."
Patricia Piedra's son is homeschooled.
"My fear, honestly, is just him. Him suffering. Him not getting everything he needs especially because he's in fifth grade," Piedra said. "If we don't get this going, he's going to be delayed. I'm doing the best I can to help him. But I do need those providers to assist me, because they're special education."
Alexis Petruzzelli says her two kids are in need of services beyond what their Catholic school on Staten Island provides. She said their first day had a dark cloud over it.
"You can't decide one year, 'Oh, you know what? I think we're gonna enforce that rule this year,' and then be shocked when we're shocked," Petruzzelli said. "Those were the options that were given to me. It was basically 'Hey, sorry, you're out of luck for this year, but we could find you a seat in public school.'"
Doug Williams has been reporting and anchoring in the Tri-State Area since 2013.
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