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1.  Hyperkeratosis as a clue to diagnosis in a patient with myopathy 
PMCID: PMC3841623  PMID: 24339602
2.  Effects of oral motor therapy in children with cerebral palsy 
Oral motor dysfunction is a common issue in children with cerebral palsy (CP). Drooling, difficulties with sucking, swallowing, and chewing are some of the problems often seen. In this study, we aimed to research the effect of oral motor therapy on pediatric CP patients with feeding problems.
Materials and Methods:
Included in this single centered, randomized, prospective study were 81 children aged 12-42 months who had been diagnosed with CP, had oral motor dysfunction and were observed at the Pediatric Neurology outpatient clinic of the Children's Health and Diseases Department, Istanbul Medical Faculty, Istanbul University. Patients were randomized into two groups: The training group and the control group. One patient from the training group dropped out of the study because of not participating regularly. Following initial evaluation of all patients by a blinded physiotherapist and pedagogue, patients in the training group participated in 1 h oral motor training sessions with a different physiotherapist once a week for 6 months. All patients kept on routine physiotherapy by their own physiotherapists. Oral motor assessment form, functional feeding assessment (FFA) subscale of the multidisciplinary feeding profile (MFP) and the Bayley scales of infant development (BSID-II) were used to evaluate oral motor function, swallowing, chewing, the gag reflex, the asymmetrical tonic neck reflex, tongue, jaw, and mouth function, severity of drooling, aspiration, choking, independent feeding and tolerated food texture during the initial examination and 6 months later.
When the initial and post-therapy FFA and BSID-II scores received by patients in the training and the study group were compared, the training group showed a statistically significant improvement (P < 0.05).
Oral motor therapy has a beneficial effect on feeding problems in children with CP.
PMCID: PMC3788277  PMID: 24101813
Cerebral palsy; feeding; oral motor function
4.  Can Alberta infant motor scale and milani comparetti motor development screening test be rapid alternatives to bayley scales of infant development-II at high-risk infants 
The main object of the present study is to assess neuromotor development of high-risk infants by using three tests, and to determine inter-test concordance and the feasibility of these tests.
Materials and Methods:
One-hundred and nine patients aged between 0 and 6 months and identified as “high-risk infant” according to the Kliegman's criteria were enrolled to the study. Three different tests were used to assess neuromotor development of the patients: Bayley scales of infant development-II (BSID-II), Alberta infant motor scale (AIMS), and Milani Comparetti Motor Development Screening Test (MCMDST).
Correlation analysis was performed between pure scores of BSID-II motor scale and total scores of AIMS. These two tests were highly correlated (r:0.92). Moderate concordance was found between BSID-II and AIMS (k:0.35). Slight concordance was found between BSID-II and MCMDST; and the concordance was slight again for AIMS and MCMDST (k:0.11 and k:0.16, respectively) too.
AIMS has a high correlation and consistency with BSID-II and can be used with routine neurological examination as it is based on observations, has few items, and requires less time to complete.
PMCID: PMC3424797  PMID: 22919192
Alberta infant motor scale; bayley scales of infant development-II; high-risk infant; milani comparetti motor development screening test
5.  Clinical Features, Prothrombotic Risk Factors, and Long-Term Follow-Up of Eight Pediatric Moyamoya Patients 
Background and Purpose
The aim of this study was to elucidate the clinical features, prothrombotic risk factors, and outcome of pediatric Moyamoya patients.
Patients diagnosed with Moyamoya disease at a tertiary center between January 2000 and December 2006 were enrolled in this study. The clinical presentations, underlying diseases, prothrombotic risk factors, family history of thrombosis, radiological findings, treatment, and outcome of the patients were reviewed retrospectively.
Eight patients with angiographically proven Moyamoya disease were identified, one of whom had neurofibromatosis type I and one had Down syndrome. The age at diagnosis varied between 19 months and 11 years (73.4±41.8 months, mean±SD). The follow-up period after diagnosis was 52.5±14.8 months. In six patients, the initial clinical presentation was hemiparesis. None of the patients had any identifiable prothrombotic factors. Despite medical and surgical treatment, three patients had recurrences and one died. Only two patients recovered without sequelae.
The value of prothrombotic risk factor evaluation appears to be limited in Moyamoya patients; the outcome for pediatric patients remains dismal.
PMCID: PMC3391613  PMID: 22787492
Moyamoya disease; prothrombotic risk factors; surgical revascularization
6.  Farber disease: A clinical diagnosis 
PMCID: PMC3519083  PMID: 23248705
8.  Severe myoclonic epilepsy of infancy (Dravet syndrome): Clinical and genetic features of nine Turkish patients 
Mutations of the α-1 subunit sodium channel gene (SCN1A) cause severe myoclonic epilepsy of infancy (SMEI). To date, over 300 mutations related to SMEI have been described. In the present study, we report new SCN1A mutations and the clinical features of SMEI cases.
Materials and Methods:
We studied the clinical and genetic features of nine patients diagnosed with SMEI at the Pediatric Neurology Department of Istanbul Medical Faculty.
Five patients had nonsense mutations, two had missense mutations, one had a splice site mutation and one had a deletion mutation of the SCN1A gene. Mutations at c.3705+5G splice site, p.trip153X nonsense mutation and deletion at c.2416_2946 have not been previously described. The seizures started following whole cell pertussis vaccination in all patients. The seizures ceased in one patient and continued in the other eight patients. Developmental regression was severe in three patients, with frequent status epilepticus. The type of mutation was not predictive for the severity of the disease. Two of the three patients with severe regression had nonsense and missense mutations.
Dravet syndrome can be result of several different types of mutation in SCN1A gene. Onset of the seizures after pertussis vaccination is an important clue for the diagnosis and neuro- developmental delay should be expected in all patients.
PMCID: PMC3200039  PMID: 22028529
Dravet syndrome; severe myoclonic epilepsy of infancy; α-1 subunit sodium channel gene mutation
9.  Being ambulatory does not secure respiratory functions of Duchenne patients 
The aim of this work was to assess the respiratory functions of ambulatory Duchenne patients and to propose an earlier time period for intervention.
Materials and Methods:
Lung functions and North Star Ambulatory Assessment (NSAA) scores of Duchenne patients were evaluated simultaneously.
Thirty ambulatory Duchenne patients were included in this study. NSAA scores of the patients were directly correlated with arm abduction, arm adduction, and shoulder flexion strengths. Forced expiratory volume in 1 second percent predicted and forced vital capacity (FVC) percent predicted correlated inversely to age and to the NSAA score. Twelve of 13 patients with FVC values lower than 80% of predicted had NSAA scores below 24 points. None of the patients who were younger than 7 years had FVC values lower than 80% of predicted.
Annual spirometry is necessary for Duchenne patients older than 6 years regardless of the ambulatory status.
PMCID: PMC3200040  PMID: 22028530
Duchenne muscular dystrophy; north star ambulatory assessment; respiratory functions

Results 1-10 (10)