Search

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]

Byline: Hatice. G. Karaaslan, Sezin. Aydemir, Ceren. Amirov, Tugce. Dilek, Zerengiz. Bayramli, Sema. Saltik, Ayca. Kiykim, Haluk. Cokugras Dear Editor, Multiple sclerosis (MS) is a chronic autoimmune demyelinating disease of [...]

Objective: Our aim in this study is to reveal the frequency of febrile seizures in patients with Familial Mediterranean Fever and Periodic Fever, Aphthous stomatitis, Pharyngitis, cervical Adenitis syndrome and to compare it to normal population. Materials and Methods: Patients with Familial Mediterranean Fever and Periodic Fever, Aphthous stomatitis, Pharyngitis, cervical Adenitis syndrome, who were diagnosed according to Turkish pediatric Familial Mediterranean Fever diagnostic criteria and Marshall criteria, were enrolled to the study. A form containing questions about febrile seizures history was prepared for Familial Mediterranean Fever and Periodic Fever, Aphthous stomatitis, Pharyngitis, cervical Adenitis syndrome patients. Demographic data and febrile seizures history of Periodic Fever, Aphthous stomatitis, Pharyngitis, cervical Adenitis patients were obtained by calling the parents by phone. Familial Mediterranean Fever patients were randomly selected during their routine follow-up. The frequency of febrile seizures in both disease groups was compared with the prevalence of previous febrile seizures studies in the general population in Turkey. Results: A total of 417 Familial Mediterranean Fever and 152 Periodic Fever, Aphthous stomatitis, Pharyngitis, cervical Adenitis subjects were recruited to the study. The frequency of febrile seizures in Familial Mediterranean Fever and Periodic Fever, Aphthous stomatitis, Pharyngitis, cervical Adenitis syndrome was similar (8.4% vs. 8.6%; P > .05). The frequency of febrile seizures in Familial Mediterranean Fever and Periodic Fever, Aphthous stomatitis, Pharyngitis, cervical Adenitis syndrome patients was found to be significantly higher than the frequency in general population (8.4% vs. 4.4%) [P < .0001, OR: 1.99 (CI: 1.4-2.8)]; (8.6% vs. 4.4%) [P < .01, OR: 2.03 (CI: 1.1-3.6)], respectively. Conclusion: The frequency of febrile seizures in patients with Familial Mediterranean Fever and Periodic Fever, Aphthous stomatitis, Pharyngitis, cervical Adenitis syndrome was found to be significantly higher than in the general population. This increased frequency of febrile seizures in both periodic syndromes seems to be a result of recurrent fever. [ABSTRACT FROM AUTHOR]

Objective: To investigate functional exercise capacity and its relationship between physical activity levels, muscle strength, balance, fatigue, and quality of life in patients with pediatric-onset multiple sclerosis. Methods: Fifteen patients with pediatric-onset multiple sclerosis were included. The 6-minute walk test was used to determine functional exercise capacity and walking distance. The Godin Leisure-Time Exercise Questionnaire and pedometer were used to evaluate physical activity, Timed-Up and Go for dynamic balance, isokinetic testing for lower extremity muscle strength, Fatigue Severity Scale for fatigue, and the Pediatric Quality of Life Inventory (PedsQL) for quality of life. Results: The 6-minute walking distance was positively correlated with GLTEQ and the School-Work subgroup score of the PedsQL-Self-report, and negatively correlated with Timed-Up and Go and Fatigue Severity Scale. Dynamic balance, physical activity, and fatigue were significant predictors of 6-minute walking distance. Conclusions: Our results showed that 6-minute walk test is influenced by physical activity, dynamic balance, and fatigue, and related to quality of life in patients with pediatric-onset multiple sclerosis. [ABSTRACT FROM AUTHOR]

Purpose: Cardiac and respiratory involvement constitutes serious complications of Duchenne muscular dystrophy (DMD). We hypothesized that obstructive sleep apnea syndrome (OSAS) may play a role in cardiac autonomic dysfunction in DMD. We sought to assess the presence of cardiac autonomic function in patients with DMD by analyzing heart rate variability (HRV) during polysomnography (PSG). Methods: In a prospective study, all participants had whole-night PSG recorded and scored according to American Academy of Sleep Medicine guidelines. HRV analysis was performed on electrocardiography recordings from PSG recordings. Results: Twelve consecutive males with DMD (mean age 9.0 ± 3.1 years, mean BMI 20.6 ± 4.8 kg/m2) and eight age-matched healthy males were enrolled. On clinical evaluation, 58% of patients with DMD had at least one symptom related to OSAS, such as snoring, witnessed apnea, or restless sleep. None of the controls had OSAS-related complaints. By PSG none of the controls had OSAS, while 42% of patients with DMD had OSAS (p = 0.004). Average R-R duration and mean percentage of successive R-R intervals > 50 ms values were significantly lower in patients with DMD than those in controls (p < 0.006). In patients with DMD and OSAS, LF/HF (low/high-frequency) ratio was significantly increased in NREM sleep compared with those in controls (p = 0.005). Higher apnea-hypopnea index and lower oxygen saturation showed significant correlations with higher LF power and LF/HF ratio (p < 0.001). Conclusion: Cardiac autonomic dysfunction is present in DMD, being more pronounced in the presence of OSAS. [ABSTRACT FROM AUTHOR]

Biallelic mutations in the TRAPPC12 gene are responsible for early-onset progressive encephalopathy with brain atrophy and spasticity (PEBAS). To date, three different allelic variants have been reported. Next-generation sequencing allowed discovery of unique alternations in this gene with different phenotypes. We report two patients carrying TRAPPC12 variants, one previously reported and one unknown mutation, with severe neurodevelopmental delay and brain atrophy. Standard clinical examination and cranial imaging studies were performed in these two unrelated patients. In addition, whole-exome sequencing was performed, followed by Sanger sequencing for verification. The first patient, a 2-year-old boy, was found to be homozygous for the previously reported c.1880C > T (p.Ala627Val) mutation. He presented with a phenotype including severe progressive cortical atrophy, moderate cerebellar atrophy, epilepsy, and microcephaly, very similar to the previously reported cases. The second case, a 9-year-old boy, carried a novel homozygous c.679T > G (p.Phe227Val) variant and presented with mild cortical atrophy, severe cerebellar atrophy, and neither clinically manifest epilepsy nor microcephaly, which were previously considered typical findings in PEBAS with TRAPPC12 mutations. Our findings suggest that clinical and brain imaging findings might be more variable than previously anticipated; however, a larger number of observations would benefit for broader phenotypic spectrum. [ABSTRACT FROM AUTHOR]

Copyright of Medeniyet Medical Journal is the property of Galenos Yayinevi Tic. LTD. STI and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

The majority of epileptic seizures are controlled with antiepileptic drugs (AEDs). Whether or not to start treatment following an initial unprovoked seizure should be decided on an individualized basis; and, the risk of seizure recurrence versus possible side-effects and social consequences of chronic AED treatment should be evaluated. Main risk factors for seizure recurrence can be summarized as the presence of focal seizure types, organic brain lesion, focal neurologic abnormality, previous neurodevelopmental retardation, specific EEG abnormality and positive family history of epilepsy. The AED chosen for initial therapy should be one that is highly effective for a particular seizure type and epilepsy syndrome, as also, that is safe and well tolerated. Monotherapy is the goal in epilepsy treatment. If the first two monotherapies fail, combinations of AEDs should be tried. Withdrawal of AED therapy should be considered in most children after two years without seizures. AEDs should be tapered slowly rather than halted abruptly. [ABSTRACT FROM AUTHOR]

Objective: This study has planned to investigate the role of electroencephalography (EEG) and cranial magnetic resonance imaging (cMRI) in the evaluation and diagnosis of neurological disorders combined with autism in children. Method: A total number of 121 autistic children ranging from 3 to 18 years of age and who had applied to our hospital's clinics between January 2010 and January 2011 were included. The sociodemographic properties, time of birth, birth history, weight at birth, age at onset of walking and language development were investigated. By means of a reevaluation of cMRI, sleep EEG and other examination findings, additional neurological diagnoses, if any were recorded. Children for whom, a cMRI/EEG evaluation was carried out and for whom such an evaluation was not carried out was compared statistically as to certain risk factors separately for additional diagnoses and neurological disorders. In addition, the relationship between cMRI and EEG findings and additional neurological disorder was examined. Results: Autistic children (Male/Female: 92/76) aged 9.30±4.2 years have been diagnosed neurological disorder additionally with a percentage of 40%. The most common of these was the epileptic seizure as 33%. No data was obtained about an additional neurological disorder in 22% of cases who performed cMRI and in 34% of cases who performed EEG. Ratio of presence of a pathological finding in cMRI was high in patients with cerebral palsy, whereas it was not found to be meaningful in patients with epileptic seizures. Analyzing risk factors for neurological disease, birth history of perinatal problems and gait disorders were seen more frequently in patients who required cMRI as compared to those in patients who did not require cMRI. Gait age was older in patients who required cMRI (18±8 months) as compared to patients without cMRI (14±4 months). Conclusion: In our autistic children, cMRI and EEG examinations had been extensively used for the investigation of additional neurological disorders. Both cMRI and EEG examinations had been requested more frequent in the presence of perinatal problems. The other risk factors for additional neurological disorders were history of premature birth to request EEG and older age at onset of walking, walking problems to request cMRI. However with detailed clinic evaluation of autistic children and clarification for investigations criteria unnecessary EEG and cMRI should be avoided. [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]

A 3-month-old boy with early myoclonic epilepsy owing to nonketotic hyperglycinemia developed acute encephalopathy after - vigabatrin was presented. Due to the use of vigabatrin, the elevated gamma-aminobutyric acid (GABA) concentration in the brain together with the elevated levels of glycine enhanced the encephalopathy. Our observations indicate the risk of using vigabatrin in patients with nonketotic hyperglycinemia. [ABSTRACT FROM AUTHOR]

Neuroleptic malignant syndrome is a rare, but potentially fatal idiosyncratic reaction to antipsychotic drugs that manifests itself consistently with hyperthermia, muscle rigidity, akinesia, altered mental state, autonomic instability, high creatine phosphokinase levels, and leukocytosis. We report here a case of risperidone-induced neuroleptic malignant syndrome in a 2.5-year-old boy who was given by mistake 2.5 mg risperidone instead of 0.25mg, as it is the youngest case reported in the literature. [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]

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]

Benign familial neonatal convulsions (BFNC) is a rare monogenic subtype of idiopathic epilepsy exhibiting autosomal dominant mode of inheritance. The disease is caused by mutations in the two homologous genes KCNQ2 and KCNQ3 that encode the subunits of the voltage-gated potassium channel. Most KCNQ2 mutations are found in the pore region and the cytoplasmic C domain. These mutations are either deletions/insertions that result in frameshift or truncation of the protein product, splice-site variants or missense mutations. This study reveals a novel missense mutation (N258S) in the KCNQ2 gene between the S5 domain and the pore of the potassium channel in two BFNC patients in a Turkish family. The absence of the mutation both in the healthy members of the family and in a control group, and the lack of any other change in the KCNQ2 gene of the patients indicate that N258S substitution is a pathogenic mutation leading to epileptic seizures in this family. [ABSTRACT FROM AUTHOR]

An etiologic evaluation of 86 patients with infantile spasms is presented and the place of cranial magnetic resonance imaging (MRI) findings within this spectrum is discussed. A total of 103 cranial MRIs, performed between 4 and 72 months of age, were analyzed and classified according to the etiologic and pathophysiologic aspects. Ninety-one percent of cases were diagnosed as symptomatic infantile spasms, and hypoxic-ischemic encephalopathy was the primary cause (30%). The most common involvement was thinning of the corpus callosum in 43 patients (50%), followed by dilation of cerebral ventricles in 32 (36%), delayed myelination in 23 (26.7%), lesions of diencephalic deep gray matter in 17 (19.7%), and enlargement of the subarachnoid space in 12 (14%). Thin corpus callosum and diffuse atrophy were changes mainly associated with hypoxic-ischemic encephalopathy, whereas delayed myelination seemed to be independent from a specific etiology. The results showed that cranial MRI may provide considerable information regarding not only the etiology but also the pathophysiology of infantile spasms. (J Child Neurol 2003; 18:241-246). [ABSTRACT FROM AUTHOR]

• We investigated the prevalence of RLS/WED and to define the disease characteristics in young patients with pediatric onset multiple sclerosis (POMS). • Our study demonstrated high prevalence of RLS/WED in young patients with POMS. Eleven patients (22%) had RLS/WED - mostly of moderate in severity (54.5%). • Mean EDSS score was significantly higher in POMS patients with RLS/WED than those without (p = 0.003). • No statistical difference was detected about attack number, radiological features and laboratory data of OCB, ferritin levels, CRP, neutrophil-to-lymphocyte ratio, and 25-OH vitamin D. Restless legs syndrome/Willis-Ekbom disease (RLS/WED) was shown to have a high prevalence among adults with multiple sclerosis (MS). We aimed to investigate the prevalence of RLS/WED and to define the disease characteristics in young patients with pediatric onset multiple sclerosis (POMS) 50 patients with POMS were questioned for the presence of RLS/WED. The demographic, clinical and laboratory data were compared between POMS patients with and without RLS/WED, including the total number of clinical and/or radiological MS attacks, interval between first two attacks, EDSS, number of the hyperintense and/or contrast-enhancing lesions, localization of demyelinating lesions, IgG index in cerebrospinal fluid, oligoclonal band, serum ferritin, C-reactive protein, ratio of neutrophil to lymphocyte count, and 25‑hydroxy vitaminD. Eleven patients (22%) had RLS/WED - mostly of moderate in severity (54.5%). Mean EDSS score was significantly higher in POMS patients with RLS/WED than those without (p = 0.003). The Ig G index was almost two times higher in POMS patients with RLS/WED, but it failed to reach to the statistically significant level (p = 0.073). Our study demonstrated high prevalence of RLS/WED in young patients with POMS. Higher EDSS scores in patients with POMS and RLS/WED indicates disease-related factors in the emergence of RLS/WED. [ABSTRACT FROM AUTHOR]

• The HRV analysis is a method to investigate the cardiac autonomic dysfunction. • The average LF power is higher in the patients with SMA during wakefulness and sleep. • OSAS is present in almost all patients with spinal muscular dystrophy. • Abnormal HRV parameters are significantly correlated with apnea-hypopnea index. • Non-invasive mechanical ventilation improves cardiac autonomic dysfunction in SMA. In patients with spinal muscular atrophy (SMA), obstructive sleep apnea syndrome (OSAS) constitutes an important cause of cardiovascular morbidity and mortality. We investigated heart rate variability (HRV) to evaluate the effects of non-invasive mechanical ventilation on cardiac autonomic dysfunction in patients with SMA and OSAS. Six patients with SMA (type 1 and 2) and six age- and sex-matched healthy children were consecutively enrolled. A whole-night diagnostic polysomnography was performed, and SMA patients with OSAS were given non-invasive mechanical ventilation therapy. HRV analysis was performed on the basis of whole-night electrocardiography recordings via a computer-base program. Apnea-hypopnea index (AHI) was 9.2 ± 6.2/hr in SMA patients, while it was 0.4 ± 0.5/hr in controls (p = 0.036). All SMA patients had OSAS, while none of the controls had OSAS (p = 0.012). Mean percentage of successive R wave of QRS complex (R-R) intervals>50 ms was significantly lower in SMA patients than those in controls (p = 0.031). Significant correlations were found between AHI and high-frequency power, low/high-frequency ratio in wakefulness and in sleep (p <0.05). Repeated HRV analysis in SMA patients following OSAS therapy showed significant reductions in average R-R duration (p = 0.028) and percentage of successive R-R intervals>50 ms (p = 0.043). Our study demonstrates the beneficial effects of non-invasive mechanical ventilation on cardiac autonomic dysfunction in SMA patients with OSAS. [ABSTRACT FROM AUTHOR]

Abstract: Autism may develop in children with West syndrome. This study was conducted to determine if EEG abnormalities in patients with West syndrome predict the later onset of autism. Two groups of patients with West syndrome, older than 6 years of age, were studied. One group consisted of those with a past history of West syndrome plus autism (N =14); the control group consisted of those with a past history of West syndrome but without autism (N =14). Patients were followed at regular intervals and video-EEG recordings were done. A total of 108 (autistic group) and 123 (non-autistic group) video-EEGs were examined. The two groups were compared with respect to age, presence or absence of hypsarrhythmia, and characteristics and localization of the epileptogenic foci. χ 2 and Fisher’s exact tests were used. The number of patients with at least one hypsarrhythmic EEG at the age of one year or later was significantly higher in autistic subjects (86%) than in non-autistic controls (29%). The incidence of EEGs with hypsarrhythmia was also higher in the autistic group, especially in older children (autistic, 49% versus non-autistic, 18% at age 3 years and later). Frontal predominance of the primary foci on EEGs with or without hypsarrhythmia was seen in 95.3% of the autistic group and 28.8% of the non-autistic group (p =0.001). Frontal abnormalities on the EEGs, which were mainly bilateral, and the persistence of hypsarrhythmia were significantly related to the emergence of autistic behavior in patients with West syndrome. These findings suggest that paroxysmal discharges in the cortical areas undergoing rapid maturation may be involved in the development of autistic features. [Copyright &y& Elsevier]

Although the courses of self-limited focal epilepsies of childhood are considered as benign, a handful of studies suggested that these children may suffer from cognitive problems. Implementing tailor-made educational strategies would aid these children to reach their full potentials. Therefore, it is crucial to understand and differentiate the complete neuropsychological and behavioral profiles of these rather common syndromes. We aimed to examine the distinct cognitive and behavioral profiles of the Panayiotopoulos syndrome (PS) and the Gastaut syndrome (GS), comparatively. Twenty patients with PS, 20 patients with GS, and 20 healthy controls have been recruited. The testing protocol included Wechsler Intelligence Scale for Children-Revised, Conner's Continuous Performance Test, Verbal Fluency Test, Stroop Color and Word Test, Color Trails Test, Tower of London Test, Symbol Digit Modalities Test, California Verbal Learning Test-Children's Version, Rey Complex Figure Test, Benton Face Recognition Test, Benton Judgment of Line Orientation, Peabody Picture Vocabulary Test, Reading and Writing Test, Child Behavior Checklist, Conner's Parent Rating Scale-48, and Behavior Rating Inventory of Executive Function. Demographical, clinical, electrophysiological data, and imaging findings have also been evaluated. With regard to intelligence, the patients with PS scored less in all scales compared to the healthy controls. However, only the performance IQ (intelligence quotient) scores differed significantly between the patient groups, with the patients with PS scoring lower than the patients with GS. Verbal memory problems were eminent in both of the patient groups; whereas, visual memory was impaired only in the group with PS. Psychomotor speed was affected in both groups. Reading problems were prominent only in the patients with PS. Writing and arithmetic skills were defective in both patient groups. There were no noteworthy behavioral problems in comparison to healthy subjects. Using neuropsychological profiles, this study demonstrated that the GS and the PS are two distinct entities. Cognitive dysfunction is a more prominent and widespread feature of the patients with PS; whereas, the patients with GS suffer only from milder and isolated cognitive problems. • GS and PS are distinct entities by means of their neuropsychological profiles. • Cognitive dysfunction is a more prominent and widespread feature of PS. • GS patients suffer from milder and isolated cognitive problems. • There were no remarkable behavioral problems in comparison to healthy subjects. [ABSTRACT FROM AUTHOR]