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Background This study examines spinal muscular atrophy (SMA), a neuromuscular disease associated with malnutrition. Our goals are to assess how effectively screening tools can detect malnutrition and evaluate the impact of nutritional interventions on neurological outcomes, particularly motor functions. Methods Thirty-seven genetically diagnosed SMA patients (types 1, 2, and 3) under nusinersen therapy were included in the study. The nutritional status of these patients was assessed by using anthropometric measurements, including height for age (HFA), weight for height (WFH), and body mass index (BMI) before and after the study. Additionally, the risk of malnutrition was determined using screening tools, namely the Pediatric Yorkhill Malnutrition Score (PYMS) and the Screening Tool for the Assessment of Malnutrition in Pediatrics (STAMP). Nutritional counseling followed the European Society for Paediatric Gastroenterology Hepatology and Nutrition (ESPGHAN) guidelines and considered the patients' dietary history, including content and administration method. Motor functions were assessed by validated tests: the Children's Hospital of Philadelphia Infant Test of Neuromuscular Disorders (CHOP-INTEND) and the Hammersmith Functional Motor Scale—Expanded (HFMSE). Result The study showed an improvement in HFA, by a change from −0.95 to −0.65 (p = 0.015). Conversely, BMI scores decreased from 0.08 to −0.54 (p = 0.015), while WFH and MUAC showed no significant alterations (p = 0.135, p = 0.307). Following nutritional interventions, HFMSE demonstrated a median increase from 29.5 to 30.5 (p = 0.023). Patients identified as being at high risk for malnutrition based on PYMS and STAMP belonged to the moderate-to-severe malnutrition group (BMI Z-score ≤ −2, p = 0.001). Conclusions Use of screening tools in SMA patients is highly beneficial for the early detection of malnutrition. Future research should highlight the importance of combining nutritional management with nusinersen therapy to potentially alter the disease trajectory, especially in motor and neurological functions. [ABSTRACT FROM AUTHOR]

Objective: Rapid drug desensitization (RDD) is a safe and effective method of inducing temporary tolerance and gradually increasing the dose over a few hours to a few days, thereby preventing severe hypersensitivity reactions. Despite the limited number of pediatric desensitization studies in the literature, it is important to explore this area further to provide better treatment options for patients. This study will determine the safety and efficacy of desensitization and present management strategies for breakthrough reactions in pediatric patients with immediate hypersensitivity reactions (HSR). Materials and Methods: This retrospective study enrolled 14 pediatric patients with drug HSRs who underwent drug desensitization between January 2020 and January 2024. The desensitization protocols used were developed by Castells and consisted of a 12-step protocol with 3 parenteral preparations with increasing concentrations. The standard protocol included premedication with antihistamine (pheniramine) and methylprednisolone (1 mg/kg) 30 minutes before the infusion. Results: The study involved 14 patients. A total of 64 desensitizations were carried out for 16 different drugs. Only 13% resulted in mild to severe reactions. Overall, almost 92% of all desensitizations were successful. Additionally, it is important to highlight that all breakthrough reactions (BRs) occurred with monoclonal antibodies. Mild BRs during RDD were associated with more severe reactions during the next RDDs. No BRs were seen during RDD in patients with mild initial reactions. Conclusion: It is important to note that desensitization is not an extreme method, and that pediatric age is not a contraindication. Desensitization is a safe and successful method for children, with a positive impact on survival and overall prognosis. [ABSTRACT FROM AUTHOR]

Neurologic complications of chronic infantile neurologic, cutaneous and articular syndrome (CINCA) are well-known, whereas there are scarce data regarding neurologic features of milder cryopyrin-associated periodic syndrome (CAPS) phenotypes. We aimed to review the neurologic features in detail and summarize the other CAPS-related manifestations in 12 children. All children with CAPS that have been followed-up from pediatric rheumatology outpatient clinic, were enrolled to the study. In addition to the neurologic examination, magnetic resonance imaging (MRI) of brain, electroencephalography, eye examination, hearing test and intellectual assessment were done. Demographic, clinical features, genetic analysis and laboratory tests were noted from patient records and hospital database. The median age of the subjects was 7 years (range 2–19 years), with a female-to-male ratio 2/1. The phenotype was consistent with familial cold autoinflammatory syndrome in 7 patients, Muckle–Wells syndrome in 3 patients and chronic infantile neurologic, cutaneous and articular syndrome in 2 patients. Most frequently noted neurologic clinical manifestation during the entire disease course was headache (n = 4/12) followed by seizures (n = 3/12), papilledema (n = 3/12), intellectual disability (n = 2/12), aseptic meningitis (n = 2/12), hearing loss (n = 2/12) and optic atrophy (n = 1/12). MRI of the brain revealed abnormal lesions in two patients. Uveitis or conjunctivitis were seen in two children. Overall, neurological involvement was detected in 6/12 of our cohort, of which half (n = 3) was in severe form. Half of the children with CAPS exhibited neurologic manifestations with varying degrees of severity. Increased understanding and awareness of this rare but treatable syndrome among neurologists is essential. If remains untreated and unrecognized, this autoinflammatory syndrome could lead to significant morbidity and mortality. Besides complete resolution of systemic symptoms, anti-interleukin-1 treatment may also prevent progression of neurologic findings when initiated in the early stage of the disease. • CAPS is an autoinflammatory syndrome with frequent neurological manifestations. • Management of this multisystemic disease requires a team approach. • Delayed diagnosis leads to significant morbidity and mortality. • Increased awareness of this rare but treatable IL1-associated disease is essential. [ABSTRACT FROM AUTHOR]

Objective: The aim of this study was to investigate health-related quality of life (HRQoL) in children with neurofibromatosis type 1 (NF1) and to determine the factors affecting HRQoL in these children, with particular emphasis on NF1-specific findings and complications. Materials and Methods: The patient group included 60 NF1 patients aged 3-18 years that were evaluated at our pediatric neurology outpatient clinic between January 2001 and January 2011. The control group included 96 age-matched patients without chronic disease and whose mothers had similar levels of education as the mothers of those in the patient group. All the mothers completed the Pediatric Quality of Life Inventory PedsQoL-Parent Form and the PedsQoL scores in the 2 groups were statistically compared. In addition, the effects of sociodemographic variables, as well as NF1-specific findings and complications (skin findings, neurofibromas, Lisch nodules, arterial hypertension and/or cardiac pathology, short stature, macrocephaly, orthopedic problems, hyperintense lesions on cranial MRI, epileptic seizures, psychiatric disease, and cognitive involvement) were statistically analyzed. Results: All PedsQoL domain scores were lower in the patient group than in the control group (P = 0.0001). HRQoL decreased, and the number of NF1-specific findings and complications increased as age increased in the patient group (P = 0.013). Short stature, neurofibromas and/or plexiform neurofibromas, bone lesions, and psychiatric problems were factors specifically related to low-level HRQoL in the NF1 patients. Conclusion: NF1 negatively affected HRQoL in the patient group. We think that multidisciplinary evaluation and, in particular, psychiatric management of NF1 patients are necessary to improve patient HRQoL. [ABSTRACT FROM AUTHOR]

Aim: In this study; clinical and laboratory findings of 15 cases with benign childhood acute myositis are presented to look over pathognomonic findings of the disease. Material and Method: Fifteen typical cases with benign childhood acute myositis referred to our Pediatric Neurology Clinic because of inability to walk, from 15th of January to 15th of March 2011, were enrolled into this study. Eighty percent of cases were male and their mean age was 6.3 years. Guillian-Barre's syndrome was the most common initial diagnosis (47% of the cases). Results: Prodromal period lasted 2- 10 days and common symptoms were sore throat, fever and cough. When they were referred to our clinic, the patients complained of pain in both calves and inability to walk. In three days period; the symptoms resolved fast and spontaneously. Leucopenia at 87%, thrombocytopenia at 47%, mildly high alanine transaminase at 87% of the patients were detected. Serum creatinin kinase level ranged from 580 to 8250 U/L and it regressed to normal level within one week. Conclusions: In the patients of whom clinical and laboratory findings are suggestive of benign childhood acute myositis, it is important to think early diagnosis, which prevents unnecessary laboratory evaluations and therapeutic approaches. [ABSTRACT FROM AUTHOR]

Purpose:Questioning the presence of any possible prognostic predictors, this study includes a long-term follow-up of clinical and EEG characteristics of 16 patients with idiopathic partial epilepsy (IPE) who subsequently developed epilepsy with electrical status epilepticus during slow sleep (ESES) spectrum disorders.Methods:Epilepsy, cognitive and behavioral parameters, and waking and non–rapid eye movement (NREM) EEG data were evaluated and scored for initial stage (i.e., IPE stage), preESES, ESES, and ESES remission periods, individually, on a chronologic basis. Data from 25 healthy subjects who had had IPE at the appropriate ages served for comparison with the patients' data during the IPE stage.Results:Results revealed a higher incidence in seizure frequency and variability in the ESES group and a resistance to a single antiepileptic drug (AED), as compared with controls, during the IPE stage. Mean age at onset of epilepsy was younger in the ESES group versus controls (5.5 and 7.3 years, respectively). At least one of the premonitory clinical features for development of ESES[an increase in the seizure frequency and/or addition of new types of seizures (93%), appearance of cognitive and/or behavioural changes (81.2%), or a progression in EEG abnormalities (66%)] was present in all patients. Epilepsy remitted in patients within the ESES spectrum at a similar age as in controls in 81.2%, as ESES findings in the EEG disappeared by age 13 years in 94%. Seizure prognosis proved to be the most favorable among the questioned parameters.Conclusions:An increase in seizure frequency or development of new seizure types, a deviance in behavior or decrease in cognitive performance, or a spreading tendency of the previously focal abnormalities in control EEGs may be premonitory features of a developing ESES and necessitate close follow-ups with sleep EEGs in children with IPEs. [ABSTRACT FROM AUTHOR]

Studies about the relationship between epileptic seizures (ESs) and melatonin are limited in children and have been performed in heterogeneous patient groups and with different methods. In this study, it was planned to investigate this relationship according to seizure and epilepsy characteristics. In 91 children with ES, serum melatonin levels were measured within half an hour following the seizure and on a seizure-free day. Seizures were categorized according to the diagnosis, semiology, etiology, duration, electroencephalography (EEG) findings, and response to treatment. Melatonin levels were compared between each group and control group. In addition, basal melatonin levels of 21 patients with electrical status epilepticus in sleep (ESES) were compared with a control group. Basal melatonin levels were found to be lower in children with ESs and ESES group compared with the control group (p < 0.001, p < 0.001). Likewise, similar results were obtained in subgroups except for remote symptomatic etiology, severe EEG findings, and refractory epilepsy. No significant difference was observed between basal and postseizure levels of melatonin. This is the first study to reveal the relationship between ESs and basal melatonin levels according to all the characteristics of seizure and epilepsy in the largest patient group. It also demonstrates the need for more detailed studies on the role of melatonin in the pathogenesis of both ESs and ESES, which may provide a basis for a future treatment. • Children with at least one diurnal seizure are likely to have low basal melatonin levels. • In children with sleep-related syndrome ESES, basal melatonin levels were also found to be low. • No significant change was observed in melatonin levels during or after seizure. [ABSTRACT FROM AUTHOR]