Panayiotopoulos syndrome and Gastaut syndrome are distinct entities in terms of neuropsychological findings.

BACKGROUND: 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. METHOD: 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. RESULTS: 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. CONCLUSION: 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.

Patients with Lately Diagnosed Cerebrotendinous Xanthomatosis.

OBJECTIVES: Cerebrotendinous xanthomatosis (CTX) is a rare autosomal recessive inborn lipid storage disorder due to various pathogenic mutations in the CYP27A1 gene. Although the symptoms begin commonly in infancy, CTX diagnosis is often delayed. In this study, we report 7 Turkish CTX patients who had a delayed diagnosis despite early clinical signs and belonged to 6 unrelated families. METHODS: We have retrospectively evaluated clinical, laboratory, imaging, and genetic findings of CTX patients, which were collected from 2 centers specialized in movement disorders: the Department of Neurology, Faculty of Medicine, Istanbul University, and the Department of Neurology, Faculty of Medicine, Mersin University. RESULTS: All patients were diagnosed with CTX after neurological symptom development, and their mean age at diagnosis was 38.7 ± 9.6 years, despite a mean onset age of 12.4 ± 10.6 years. The mean follow-up period was 28 months (range: 3-60 months). The most common initial clinical abnormalities in our cohort were unexplained chronic diarrhea (42%), febrile convulsion (42%), juvenile cataract (85%), childhood depression and autism (14%), parkinsonism (14%), and intellectual disability (100%). The most prominent neurological findings were the pyramidal-cerebellar syndrome (85%) and extrapyramidal signs (42%). All patients were genetically confirmed. Serum cholestanol levels were elevated in all patients and decreased after chenodeoxycholic acid (CDCA) treatment in 6 patients. CONCLUSION: This cohort is the largest CTX case series in Turkey. All cases showed improvement in gastrointestinal symptoms as a response to CDCA treatment and stabilization on neurological symptoms, i.e., no further progression of neurological abnormalities were noted during this treatment. Therefore, early diagnosis and treatment is crucial in preventing clinical deterioration.

Evaluation of cognitive performance in professional divers by means of event-related potentials and neuropsychology.

OBJECTIVE: We investigated whether professional air diving with no decompression illness causes any long-term changes in cognitive functions. METHODS: The all-male participants consisted of 18 healthy control (HC) volunteers and 32 divers. Divers were divided into two subgroups as moderate exposure group, Divers-I (DI) and extensive exposure group, Divers-II (DII). Participants were administered a comprehensive neuropsychological battery and event-related potentials (ERPs) were recorded while they performed auditory oddball task and visual continuous performance test (CPT). RESULTS: P3 waves in oddball and CPT were significantly attenuated and peak latencies were prolonged in both diver groups compared with HC. Amplitude decrements in CPT P3 were graded with respect to level of diving exposure. Neuropsychologically, DII group displayed significantly poorer performance than HC and DI groups in measures of visuo-constructional and visual long-term memory tests. DI group performed better than HC group in some measures of planning ability. CONCLUSIONS: Most of the changes in neurophysiological measures and poorer neuropsychological performance were found in DII group, and this might be interpreted as a red flag for the reflection of the slowly progressing deleterious effects of silent bubbles in brain function. SIGNIFICANCE: This study reports impairments in certain neuropsychological measures and apparent neurophysiological markers pointing to slow cognitive decline referring to long-term effects of diving.

Serotonin transporter promoter polymorphism is associated with executive function impairments in patients with obsessive compulsive disorder.

OBJECTIVE: In the present study, we investigate the association between the 5-HTTLPR polymorphism and executive functions in a sample of patients with obsessive compulsive disorder (OCD). METHOD: A total of 98 unmedicated patients diagnosed with OCD according to DSM-IV criteria and 80 healthy controls were included in this study. The genotype frequencies of 5-HTTLPR polymorphism were compared in OCD and healthy control groups. The four subgroups of OCD and healthy control participants, determined according to having LaLa genotype (high expressing) or S- and/or Lg alleles (low expressing), were also compared using neuropsychological tests of executive functions. RESULTS: The frequency of SLa genotype of 5-HTTLPR polymorphism was found to be higher in patients with OCD compared with healthy controls. The mean scores of conceptual level responses of the Wisconsin Card Sorting Test (WCST) were significantly lower in the OCD-high-expressing subgroup compared with the low-expressing control group. The mean scores of the number of moves of the Tower of London were found to be significantly higher in the OCD-high-expressing subgroup, compared with the high-expressing subgroup of healthy controls. CONCLUSION: Our findings suggest that the high-expressing variant may be associated with lower performance on some abstraction and planning measures in OCD patients.

Behavioral characteristics and cognitive development among school age children born to women with epilepsy.

INTRODUCTION: Greater risks of congenital malformation as well as cognitive and behavioral development in later childhood occur as a result of in utero exposure to antiepileptic drugs (AEDs). We examined the effects of AEDs on behavioral characteristics and cognitive development among school age children born to women with epilepsy. METHODS: Children aged 6-15 years and born to women with epilepsy were enrolled in the study. Information was collected on the women's demographics and the details of their usage/non-usage of AEDs during pregnancy. The Wechsler Intelligence Scale for the Children-Revised (WICS-R) test was administered to the children. The Alexander IQ test and the Conner Parent Rating Scale (CPRS) were administered to the mothers. Comparisons were made between children who had been exposed and not exposed to AEDs in utero and if exposed, according to exposure to AED monotherapy or polytherapy. The mother's education level and IQ score and data from the same parent's siblings were evaluated with respect to consanguinity. RESULTS: Forty-one children born to 28 women with epilepsy were enrolled. Seven mothers had multiple pregnancies. Twenty-three pregnancies (56%) were exposed to monotherapy and five (12·1%) to polytherapy. The remaining 13 (31·7%) were not exposed to AEDs. Maternal education level was a significant major factor in child IQ development (P < 0·05). The performance IQ-coding scale results were lower in children exposed to polytherapy than in children exposed to monotherapy in utero (P < 0·05). Although it is difficult to assert with confidence, the sibling assessment indicated a negative effect of valproate on IQ. CONCLUSION: It is important that the AED dosage be reduced to a minimum to maintain seizure control for healthy cognitive and behavioral development of a child.