We aimed to adapt the Modified Checklist for Autism in Toddlers to Turkish culture. The Modified Checklist for Autism in Toddlers was filled out independently by 191 parents while they were waiting for the well-child examination of their child. A high screen-positive rate was found. Because of this high false-positive rate, a second study was done in which the Modified Checklist for Autism in Toddlers was administered by health-care staff in a short interview with two groups of parents. ...

The development of the human cerebral cortex is an orchestrated process involving the generation of neural progenitors in the periventricular germinal zones, cell proliferation characterized by symmetric and asymmetric mitoses, followed by migration of post-mitotic neurons to their final destinations in six highly ordered, functionally specialized layers. An understanding of the molecular mechanisms guiding these intricate processes is in its infancy, substantially driven by the ...

AIM: Our aim was to detect the status of bone mineral density (BMD) in children with NF1, and thus to help the management of the skeletal complications of NF1.

METHODS: Dual-energy X-ray absorptiometry (DEXA) was performed in lumbar spine, total body, proximal femur and forearm in 31 children (3.1-18 years) with NF1. Correlations among the BMD values of four regions were calculated statistically. Z-scores of lumbar- and total body-BMD were also evaluated in 24 patients at and older than ...

Dravet syndrome is a rare and progressive epileptic encephalopathy of infancy. Stiripentol reduces the seizure frequency in patients with Dravet syndrome. We evaluated the clinical characteristics of patients with Dravet syndrome and their response to stiripentol. We retrospectively collected the data of 21 patients (11 females; mean age, 8.2 years, range: 5.4-15 years) with Dravet syndrome who were treated with stiripentol in our outpatient clinic between June 2016 and June 2017. ...

PURPOSE: To evaluate the two-year follow-up of patients with type 1 retinopathy of prematurity (ROP) who received intravitreal bevacizumab (IVB) as adjunctive treatment.

MATERIALS AND METHODS: We conducted a longitudinal follow-up study of premature infants who received 0.625 mg IVB therapy in addition to standard laser photocoagulation therapy. For comparison of the ophthalmological and neurological assessment outcomes of these infants, a control group was formed with 13 birth weight- ...

The purpose of this study was to evaluate positron emission tomography (PET) findings in patients diagnosed with infantile spasms and autism. This study includes 90 patients who were diagnosed with infantile spasms at the Department of Pediatric Neurology in the Istanbul University Medical Faculty between 1995 and 2007. Of the 90 patients, 15 patients who were diagnosed with autism using the Autism Behaviour Checklist and Childhood Autism Rating Scale and a control group of nine patients ...

Population-based studies report that children with epilepsy have relatively better prognosis than those with an onset at infancy, though studies about this period are limited. We aimed to evaluate the etiology in infant epilepsy less than 2 years of age and foreseeable risk factors for anti-epileptic drug resistance. We evaluated the patients who were presented to the division of pediatric neurology in our university hospital with seizures when they were between 1 and 24 months of age ...

Spinal muscular atrophy with progressive myoclonic epilepsy (SMA-PME), a rare disorder caused by mutation in the ASAH1 gene, is characterized by progressive muscle weakness and intractable epilepsy. The literature about SMA-PME is very rare and most of the time limited to case reports. Mutation in the ASAH1 gene is also found in another rare syndrome which is Farber disease. We report a case of a 13.5-year-old girl with SMA-PME associated with ASAH1 gene mutation. She presented with ...

Thirteen infants with congenital brachial plexus palsy (eight with upper, five with upper and lower) were monitored by magnetic resonance imaging (the first performed between 7 and 41 days of age and the second at 3 months of age), electromyography (the first performed between 27 and 50 days and the second at 3 months), and the muscle scoring system of the Hospital for Sick Children (at 3, 6, and 9 months of age). The findings were evaluated with respect to the clinical status of the ...

SCN1A mutations are found in up to 80 % of patients with Dravet syndrome (DS), and the sudden unexpected death in epilepsy (SUDEP) rate is higher in DS than in most forms of severe epilepsy. The aim of this study is to examine the autonomic cardiac function and the risk of arrhythmia in DS patients by evaluating QT and P wave dispersion and heart rate variability (HRV) using standard electrocardiography (ECG) and 24-h ECG. The study group consisted of 15 patients (9 boys and 6 girls aged ...

[Purpose] Cerebral palsy is a sensorimotor disorder that affects the control of posture and movement. The Nintendo(®) Wii Fit offers an inexpensive, enjoyable, suitable alternative to more complex systems for children with cerebral palsy. The aim of this study was to investigate the efficacacy of Wii-based balance therapy for children with ambulatory cerebral palsy. [Subjects] This pilot study design included fourteen ambulatory patients with cerebral palsy (11 males, 3 females; mean age ...

This study evaluated etiologic and risk factors affecting long-term prognoses of neurologic outcomes in newborns with neonatal seizures. We enrolled patients at chronologic ages of 23-44 months, referred to the Department of Pediatric Neurology, Istanbul Medical Faculty, from January 1, 2007-December 31, 2009, after manifesting seizures in their first postnatal 28 days. Of 112 newborns, 41 were female, 71 were male, 33 were preterm, and 79 were full-term. Perinatal asphyxia (28.6%) and ...

Floppiness in an infant may have a number of different etiologies from disorders of the brain to spinal cord lesions, neuropathies, neuromuscular junction disorders and myopathies. In this study we aimed to investigate the correlation of muscle ultrasonography (US) and electromyography (EMG) in the diagnosis of floppy infants. The study encompassed 41 floppy infants aged 2-24 months. The muscle US and EMG examinations were performed without awareness of the clinical diagnosis. The final ...

Our objective was to characterize the etiologic factors and outcome for stroke in children. We retrospectively reviewed the charts of patients between the ages of 40 days and 94 months (36.5 +/- 23.7 months) with stroke seen at Istanbul Medical Faculty, Department of Pediatrics between January 1995 and December 2003. We found 79 cases of stroke: 57 ischemic and 22 hemorrhagic strokes. Seventeen children had vitamin K deficiency dependent hemorrhage. In 14 children stroke occurred as a ...

Background: Tay-Sachs disease is an inherited metabolic disease caused by the accumulation of GM2 gangliosides in the central nervous system. Deficiency of hexosaminidase A leads to the accumulation of gangliosides in neurons, axons and glial cells. Objective: To present the cranial MRI and proton MR spectroscopy findings of children of Tay-Sachs disease. Materials and methods: Three children aged 10, 20 and 21 months were examined. Results: On T2-weighted MR images there were ...