Aim: This study aims to reveal the problems faced by families of children with spinal muscular atrophy (SMA), by evaluating their care burden, needs, and expectations. Materials and Methods: The participants were the primary caregivers of 34 children between the ages of 0 and 18 years diagnosed with SMA. Thirteen children were diagnosed with type 1, 13 children with type 2 and 8 children with type 3 SMA. Data on the medical history, functional levels of the participants, and the characteristics of families were collected. The childrens’ parents completed the Family Needs Survey and the Zarit Caregiver Burden Scale. Results: According to the results of the Family Needs Survey, it was found that information was the most common requirement, and this was independent of the level of education. According to the Caregiver Burden Scale, it was recorded that 64.7% of the caregivers were under mild/ moderate burden. While there was a moderate correlation (r = 0.574; P < .001) between the Caregiver Burden Scale and the Family Needs Survey, it was observed that the functional level of the child was not associated with family needs and caregiver burden. Conclusions: Our study suggests that the needs of families of SMA patients, especially related to income level, have changed. The caregivers’ burden is not directly related to the income level or the functional level of the child. Families’ need for information should also be prioritized within the rehabilitation program. Cite this article as: Evkaya Acar A, Karadağ Saygı E, İmamoğlu S, et al. The burden of primary caregivers of spinal muscular atrophy patients and their needs. Turk Arch Pediatr. 2021; 56(4): 366-373.

Although the relationship between 25-hydroxy (25-OH) vitamin D and asthma is known, it is unknown if 25-OH vitamin D levels are correlated with asthma severity in pediatric patients. The aim of this study was to compare the blood 25-OH vitamin D levels of asthma patients and healthy control groups and to evaluate any correlation between asthma severity and blood 25-OH vitamin D levels in pediatric asthma patients. This is a cross-sectional study which shows the 25-OH vitamin D levels of asthma patients and compared to healthy controls followed by a tertiary pediatric clinic. We investigated the effect of 25-OH vitamin D levels on the severity of asthma. The severity of asthma was determined mainly by the duration of asthma diagnosis, a number of attacks in the previous year, anti-inflammatory medication usage in a previous year, atopy presence in the family, skin prick test positivity, and immunoglobulin E (IgE) levels of asthma patients. Compared with control groups, asthma patients had significantly lower 25-OH vitamin D, calcium (Ca) levels, and higher number of patients who had a 25-OH vitamin D deficiency, (p<0.0001, p<0.0001, p<0.0001, respectively). We found a correlation between blood 25-OH vitamin D levels and force expiratory capacity in one second (FEV1) and forced vital capacity (FVC) respectively (p< 0.001, r=0.512), (p< 0.001, r=0.513). There was an association between FEV1, FVC and blood 25-OH vitamin D levels in terms of deficient levels (<20 ng/mL) or insufficient levels (≥20 and <30 ng/mL) (p<0.001, r=0.459), (p< 0.001, r=0.450), respectively. The 25-OH vitamin D levels were lower in pediatric asthma patients with worse spirometry results. Effects of Vitamin D supplementation need to be evaluated by well-designed studies.

Aim: The purpose of this study is to classify the malformations of cortical development in children according to the embryological formation, localization, and neurodevelopmental findings. Seizure/epilepsy and electrophysiological findings have also been compared. Material and Methods: Seventy-five children (age: 1 month-16.5 years; 56% male) followed with the diagnosis of malformation of cortical development, in Marmara University Pendik Research and Educational Hospital Department of Pediatric Neurology, were included in the study. Their epilepsy characteristics, electroencephalogram (EEG) findings, and prognosis were reported. Neurodevelopmental characteristics were evaluated by the Bayley Scales of Infant and Toddler Development (Bayley-III) for the ages of 0-42 months (n = 30); the Denver Developmental Screening Test-II (DDST-II) for ages 42 months-6 years (n = 11); and the Wechsler Intelligence Scales for Children (WISC-R), used for children 6 years and older (n = 34). Results: The patients were classified as 44% premigrational (14.6% microcephaly, 24% tuberous sclerosis, 2.7% focal cortical dysplasia, 1.3% hemimegalencephaly, and 1.3% diffuse cortical dysgenesis); 17.3% migrational (14.6% lissencephaly, 2.7% heterotopia); and 38.6% postmigrational (14.6% schizencephaly, 24% polymicrogyria) developmentally. According to involved area, the classification was 34.7% hemispheric/multilobar, 33.3% diffuse, and 32% focal. Seventy-five percent of the patients had a history of epilepsy, and 92% were resistant to treatment. The seizures started before the age of 12 months in diffuse malformations, and epileptic encephalopathy was more common in microcephaly with a rate of 80% and lissencephaly with a rate of 54.5% in the first EEGs. Ninety-five percent of patients had at least one level of neurodevelopmental delay detected by DDST/Bayley-III; this was more common in patients with accompanying epilepsy (P < .05). As seen more commonly in patients with diffuse pathologies and intractable frequent seizures, mental retardation was detected by WISC-R in 64.5% of patients (P < .05). Conclusion: In cases with cortical developmental malformation, epilepsy/EEG features and neurodevelopmental prognosis can be predicted depending on the developmental process and type and extent of involvement. Patients should be followed up closely with EEG. Cite this article as: Şah O, Türkdoğan D, Küçü k S, et al. Neurodevelopmental Findings and Epilepsy in Malformations of Cortical Development. Turk Arch Pediatr. 2021; 56(4): 356-365.