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| Content Provider | Springer Nature : BioMed Central |
|---|---|
| Author | Schoch, Kelly McConkie-Rosell, Allyn Walley, Nicole Bhambhani, Vikas Feyma, Timothy Pizoli, Carolyn E. Smith, Edward C. Tan, Queenie K.-G. Shashi, Vandana |
| Abstract | Background A recurrent de novo variant (c.892C>T) in NACC1 causes a neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination (NECFM). An unusual and consistently reported feature is episodic extreme irritability and inconsolability. We now characterize these episodes, their impact on the family, and ascertain treatments that may be effective. Parents of 14 affected individuals provided narratives describing the irritability episodes, including triggers, behavioral and physiological changes, and treatments. Simultaneously, parents of 15 children completed the Non-communicating Children’s Pain Checklist-Revised (NCCPC-R), a measure to assess pain in non-verbal children. Results The episodes of extreme irritability include a prodromal, peak, and resolving phase, with normal periods in between. The children were rated to have extreme pain-related behaviors on the NCCPC-R scale, although it is unknown whether the physiologic changes described by parents are caused by pain. Attempted treatments included various classes of medications, with psychotropic and sedative medications being most effective (7/15). Nearly all families (13/14) describe how the episodes have a profound impact on their lives. Conclusions NECFM caused by the recurrent variant c.892C>T is associated with a universal feature of incapacitating episodic irritability of unclear etiology. Further understanding of the pathophysiology can lead to more effective therapeutic strategies. |
| Related Links | https://ojrd.biomedcentral.com/counter/pdf/10.1186/s13023-023-02891-3.pdf |
| Ending Page | 10 |
| Page Count | 10 |
| Starting Page | 1 |
| File Format | HTM / HTML |
| ISSN | 17501172 |
| DOI | 10.1186/s13023-023-02891-3 |
| Journal | Orphanet Journal of Rare Diseases |
| Issue Number | 1 |
| Volume Number | 18 |
| Language | English |
| Publisher | BioMed Central |
| Publisher Date | 2023-09-04 |
| Access Restriction | Open |
| Subject Keyword | Medicine Public Health Pharmacology Toxicology Human Genetics NACC1 Extreme irritability NECFM Episodic irritability Agitation Paroxysmal sympathetic hyperactivity Neuroirritability Medicine/Public Health Pharmacology/Toxicology |
| Content Type | Text |
| Resource Type | Article |
| Subject | Pharmacology (medical) Genetics (clinical) |
| Journal Impact Factor | 3.4/2023 |
| 5-Year Journal Impact Factor | 3.9/2023 |
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