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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. [ABSTRACT FROM AUTHOR]

Background: Traditional fasting rules for children prior to elective operations ("6‑4‑2 rule") often lead to prolonged fasting times with possible adverse events (discomfort, hypoglycemia, metabolic disorders, agitation/delirium). A new liberal fasting policy allowing children to drink clear fluids until being called to the operating room ("6‑4‑0") was established in our university hospital. This article describes our experiences and retrospectively examines the effects. Objective: Evaluation of real fasting times before and up to 6 months after the intervention (success and durability of changing fasting policy). Evaluation of impact on outcome parameters, such as patients' resp. parents' satisfaction as well as perioperative agitation, arterial hypotension after induction and postoperative nausea and vomiting (PONV). Material and methods: Retrospective evaluation of methods and interventions from 1 month before to 6 months after changing the fasting policy (June–December 2020). Statistical analysis using descriptive statistics, odds ratio and χ2-test. Results: Of 216 analyzed patients 44 were in the pre-change group and 172 in the post-change group. We could significantly reduce clear fluids fasting times over the 6 months after the intervention (median fasting time: from 6.1 h to 4.5 h; p = 0.034) and achieve our aim (fasting time for clear fluids less than or equal to 2h) in 47% of the patients. Fasting times became longer again reaching pre-change intervals in the 4th and 5th month, so reminder measures turned out to be necessary. By reminding the staff we could reduce fasting times again in the 6th month and restore patients' resp. parents' satisfaction. Satisfaction was improved by shorter fasting times (median school grade from 2.8 to 2.2; p = 0.004; odds ratio for better satisfaction 5.24, 2.1–13.2), and preoperative agitation was reduced (agitation modified PAED scale 1–2 in only 34.5% instead of 50%, p = 0.032). In the liberal fasting group, we observed a nonsignificant smaller incidence of hypotension after induction (7% vs. 14%, p = 0.26) while PONV was too rare in both groups for statistical purposes. Conclusion: With multiple interventions we could significantly reduce fasting times for clear fluids and improve patients' resp. parents' satisfaction as well as preoperative agitation. These interventions included regular presence in all staff meetings, a handout for both parents and staff, as well as a remark on the anesthesia protocol. Children who were operated on later in the day, benefited most from the new liberal fasting policy as they were allowed to drink until being called to the operating room. Following our experience, we consider simple and safe fasting rules for the whole staff as most important for change management. Nevertheless, we could not reduce the fasting intervals in all cases and had to remind the staff after 5 months to preserve this success. For enduring success, we suggest regular staff updates during the change process instead of one single kick-off information event. [ABSTRACT FROM AUTHOR]