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Pantothenate kinase-associated neurodegeneration (PKAN) is a rare disorder associated with brain iron accumulation. The brain MRI abnormality consists of T2 hypointensity in the globus pallidus with a small hyperintensity in its medial part, called the “eye-of-the-tiger” sign. We report on 2 patients affected by PKAN, in whom MRI examination did not demonstrate the “eye-of-the-tiger” sign in the early stages; the typical abnormalities were detected only in the following examinations. Case 1 is a 4-year-old boy first studied at age 2 years for psychomotor delay. The brain MRI was normal. In the following 2 years, the motor impairment progressed. The second brain MRI at age 4 years demonstrated the “eye-of-the-tiger” sign. Molecular analysis of the PANK2 gene revealed a missense mutation F228S in exon 2 in homozygosis. Case 2 is a 6-year-old boy first studied at age 2 years because of psychomotor delay. His brain MRI did not demonstrate abnormalities in the globus pallidus. In the following years spastic-dystonic tetraparesis became evident. A brain MRI at age 4 years demonstrated the “eye-of-the-tiger” sign. Molecular analysis of the PANK2 gene revealed a missense mutation in exon 5 (N501I). Our 2 cases demonstrate that the observation of a normal globus pallidus in the early stage of the disease does not exclude the diagnosis of classic PKAN. [ABSTRACT FROM AUTHOR]

Objectives: Sydenham's Chorea (SC) is a neuropsychiatric disorder and a major manifestation of acute rheumatic fever. The erroneous assumption that SC is a benign and self-limiting disease, has led to a lack of high-quality scientific evidence of the therapeutical and prognostic features of SC., Study Design: We retrospectively analyzed the medical records of patients <18-years old with SC in 17 Italian pediatric centers. Recorded data included clinical, instrumental and laboratory parameters. Prognostic risk factors including treatment regimens were assessed with univariate and multivariate sub-analysis., Results: We included 171 patients with SC. 66% had generalized chorea, and 34% hemichorea. 81% had carditis (subclinical in 65%). Additional neurological symptoms were reported in 60% of the patients, mainly dysarthria and dysgraphia. 51% had neuropsychiatric symptoms at onset, which persisted after 12 months in 10%. Among psychiatric manifestations, the most common was anxiety disorder/depression (77%). Neurological remission was reached by 93% of the patients at 6 months; 9% relapsed. Patients were treated as follows: 11% penicillin alone, 37% immunomodulatory therapy, 16% symptomatic drugs (i.e. anti-seizure medication, dopamine antagonists) and 37% both symptomatic and immunomodulatory treatment. Neurological outcome did not differ between groups. Patients receiving symptomatic drugs had a higher risk of relapse on multivariate analysis (p = 0.045)., Conclusions: Treatment of SC was largely heterogeneous. Based on our results, immunomodulatory therapy did not show higher efficacy at medium term, although it was associated to a slightly lower risk of relapse compared to symptomatic therapy. Longitudinal studies are needed to assess specific risk factors and best treatment options., Competing Interests: Declaration of competing interest All Authors declare that they have no conflict of interest to disclose., (Copyright © 2021 European Paediatric Neurology Society. Published by Elsevier Ltd. All rights reserved.)

Objectives: Drug resistant epilepsy has rarely been reported following posterior reversible encephalopathy syndrome (PRES), with few cases of mesial temporal sclerosis (MTS). The aim of this study was to report clinical and neuroimaging features of MTS subsequent to PRES in hemato-oncologic/stem cell transplanted children., Materials and Methods: Among 70 children treated in 2 pediatric hemato-oncologic Italian centers between 1994 and 2018 and presenting an episode of PRES, we retrospectively identified and analyzed a subgroup of patients who developed epilepsy and MTS., Results: Nine of 70 patients (12.8%) developed post-PRES persistent seizures with magnetic resonance imaging evidence of MTS. One patient died few months after MTS diagnosis, because of hematologic complications; the remaining 8 patients showed unprovoked seizures over time leading to the diagnosis of epilepsy, focal in all and drug resistant in 4. At PRES diagnosis, all patients with further evidence of epilepsy and MTS suffered of convulsive seizures, evolving into status epilepticus in 3. In 3 patients a borderline cognitive level or intellectual disability were diagnosed after the onset of epilepsy, and 2 had behavioral problems impacting their quality of life., Conclusions: MTS and long-term focal epilepsy, along with potential cognitive and behavioral disorders, are not uncommon in older pediatric patients following PRES., Competing Interests: The authors declare no conflict of interest., (Copyright © 2021 Wolters Kluwer Health, Inc. All rights reserved.)

Background: The recent COVID-19 pandemic pointed out new burdens for researchers on mental health and that evidence-based (EB) studies on vulnerable populations are timely needed. The present paper aims at analysing the impact of suspicious of SARS-COV-2 infection in a cohort of parents presented at 3 major hospitals (spread between north and center of Italy) during the Italian COVID-19 pandemic phase 1., Methods: Participants of the present cross-sectional, multicenter study were parental couples of children suspected to have COVID-19 who underwent testing with nasopharyngeal swabbing. All subjects were assessed by means of the: Impact of Event Scale-Revised (IES-R), Generalized Anxiety Disorder 7-Item (GAD-7) and Patient Health Questionnaire-9 (PHQ-9) in order to evaluate Post-traumatic stress (PTSS), anxiety, and depressive symptoms, respectively., Outcomes: Results evidenced that parents whose children tested positive for COVID-19 were more prone to developing PTSS, anxiety and depressive symptoms. The same results emerged for parents who had quarantined as opposed to those who had not. Moreover, patients who suffered economic damage showed a higher prevalence of anxiety and depressive symptoms, whereas PTSS was more common among unemployed subjects and among mothers., Interpretation: This study identified a mental health strain represented by parenting a child who tested positive for SARS-CoV-2 infection. Further EB research is needed to develop evidence-driven strategies to reduce adverse psychological impacts and related psychiatric symptoms in caregivers of COVID-19 infected children during the next phases of the pandemic., (Copyright © 2021 Elsevier Ltd. All rights reserved.)

Steroids are commonly used for the treatment of intractable epilepsy. Deflazacort has shown similar effects to prednisone, but with a less worrying adverse-effect profile. In this study, we first compared the efficacy, safety, and seizure relapse rate of deflazacort versus hydrocortisone in children affected by drug-resistant epilepsies. This was an open, non-blinded, randomized clinical study of 35 children affected by drug-resistant epilepsies. The study lasted 12 months. Group 1 (16 patients) received hydrocortisone for 6 months; group 2 (19 patients) was treated with deflazacort for the entire study period. Drug efficacy and tolerability were evaluated after 6 months of therapy. Seizure relapse rates were evaluated 12 months after the start of the study. After 6 months of therapy, hydrocortisone was effective in 44% of patients (responders, with a decrease in seizure frequency of >50%). Deflazacort was effective in 47% of patients (P=0.9). Adverse events occurred in 37% of patients using hydrocortisone and in none of those using deflazacort (P=0.002). At the end of the study, seizure relapse rate resulted significantly higher in group 1 than in group 2 (P=0.04). Hydrocortisone may be useful in the treatment of severely drug-resistant childhood epilepsies. However, its effects may be transient. Deflazacort should be considered in the therapeutic armamentarium for epileptic encephalopathies. The drug is as effective as hydrocortisone and may be used in therapy for a long period, with a less worrying adverse-effect profile.

Aim: We recently developed the ABC scale to assess pain in term newborns. The aim of the present study was to assess the reliability of the scale in preterm babies., Material and Methods: The scale consists of three cry parameters: (a) pitch of the first cry, (b) rhythmicity of the bout of crying and (c) cry constancy. Changes in these parameters were previously found to distinguish medium and high levels of pain as evaluated by spectral analysis of crying. We enrolled 72 babies to perform the steps usually requested to validate a scale, namely the study of the concurrent validity, specificity and sensibility. Moreover, we assessed the interjudge reliability and the clinical utility and ease of the scale., Results: A good correlation (r = 0.68; r(2)= 0.45; p < 0.0001) was found between scores obtained with the ABC scale and the premature infant pain profile (PIPP) scale, demonstrating a good concurrent validity. The scale also showed good sensitivity and specificity (we found statistically significant differences between mean values of scores obtained in babies who underwent pain and babies who underwent non-painful stimulus.) Interobserver reliability was good: Cohen's kappa = 0.7., Conclusion: The good correlation between the two scales shows that the ABC scale is also reliable for premature babies.

Aim: We developed and validated a pain scale (ABC scale) for term babies based on acoustic features of crying., Methods: The scale consisted of three different cry parameters: (a) pitch of the first cry; (b) rhythmicity of the crying bout; (c) constancy of crying intensity. These parameters were previously found to distinguish between medium and high levels of pain measured by spectral analysis of crying. We validated the scale using healthy term babies undergoing routine heel prick. Concurrent validity was assessed comparing pain values obtained with our scale with those obtained with another pain scale; this relationship was also used to assess the sensitivity of the scale. To assess specificity we compared the ABC scores during a painful event (heel prick) with two non-painful events (preliminary phase of prick in the same group of babies, and heel prick with analgesia in another group)., Results: Specificity: (a) analgesic/non-analgesic comparison, p < 0.0001; (b) pain/sham comparison, p < 0.0001). Sensitivity: a high correlation between scores of the ABC scale and the Douleur Aigue du Nouveau-Né scale indicates good sensitivity. Concurrent validity: Spearman rho = 0.91. Internal consistency: Cronbach's alpha = 0.76. Inter-rater reliability: Cohen's kappa for multiple raters = 0.83. Intra-rater reliability: Cohen's kappa = 0.85. Practicality: All nurses who used it scored the scale as "good"., Conclusion: The ABC scale proved to be simple and reliable for assessing pain in healthy, non-intubated term newborns.