The Key Search Subtest of the Behavioural Assessment of the Dysexecutive Syndrome in Children (BADS-C) Instrument Reveals Impaired Planning Without External Constraints in Children With Neurofibromatosis Type 1.

Studies of executive function and its relationship with brain T2-weighted hyperintensities in children with neurofibromatosis type 1 (NF1) have yielded inconsistent results. We examined 16 children with NF1 aged 8 to 15 years, of normal intelligence, and compared their findings to those of 16 siblings and 16 typically developing children using the Behavioural Assessment of the Dysexecutive Syndrome in Children (BADS-C). NF1 patients had an adequate overall score at BADS-C, but showed significantly lower performance than typical peers in the Key Search subtest. This is a task that must be solved without any given rules, in which subjects must devise a strategy and an efficient search pattern transferable to other similar real situations. The Key Search scores were not correlated with number and signal characteristics of T2-weighted hyperintensities. Planning without external indications is impaired in children with NF1 because they have to rely entirely on self-organization and monitoring; this study provides information for remediation programs designed to improve functioning in daily life.

Ventral stream sensitivity in "healthy" preterm-born adolescents: psychophysical and neuropsychological evaluation.

BACKGROUND: Deficits of motion processing have been reported in premature and very low birth-weight subjects during infancy, childhood and adolescence. Less is known about ventral stream functioning in preterms. AIM: The aim of this study is to investigate ventral stream functioning in a sample of "healthy" adolescents born preterm with normal outcome and without brain damage. STUDY DESIGN: We enrolled thirty preterm-born adolescents (mean age: 14.2years, mean gestational age 28.9weeks, mean birth weight 1097g), and 34 age-matched term-born controls (mean age: 14.5years). All subjects were administered a psychophysical test known as "Form Coherence Task" and a comprehensive standardized battery of neuropsychological tests suitable for investigating ventral stream functioning including Street Completion Test, Poppelreuter-Ghent Test and the first part of the Visual Object and Space Perception (VOSP) battery. Dorsal stream visual functioning was investigated by the second part of the VOSP. RESULTS: Preterm (PT) subjects showed the same results in all "ventral" tasks with respect to full-term controls without any correlation to gestational age or birth weight. We found a significant negative correlation between Form Coherence Task and Letters Task (p=.014) and between Form Coherence and Silhouette Tasks (p=.017). No correlation was observed between Form Coherence Task and Street and Ghent Tests. A statistical difference was instead found between PTs and controls in two tasks of the VOSP battery that mostly involve the dorsal stream. CONCLUSIONS: Preterm birth per se (in absence of evident brain lesions) is not sufficient to compromise the development of ventral pathway.

Neuroimaging findings in 41 low-functioning children with autism spectrum disorder: a single-center experience.

The data on the rate of brain imaging abnormalities in autistic spectrum disorders are still inconsistent. A recent study on patients with high-functioning autism found that approximately 90% of children had normal magnetic resonance imaging (MRI) scans whereas an unexpected high rate of MRI abnormalities was reported in 77 nonsyndromic autistic children with or without intellectual disability. The aim of this study was to evaluate the prevalence of neuroradiologic findings in low-functioning autistic children compared to controls matched for age. Minor brain abnormalities were found in 44% of patients and 22% of controls. Our main result is the high rate of mega cisterna magna in autistic patients. High rate of minor neuroradiologic abnormalities in low-functioning autistic patients could contribute to the research about the various endophenotypes and complete the clinical assessment of children with autistic spectrum disorder and intellectual disability.

Attention in children and adolescents with headache.

OBJECTIVE: The previous studies reporting consistent visual reaction times slowing in patients with migraine prompted us to verify if headache could be associated to a broader impairment of attention. This study aims to undertake a thorough investigation of attentional performance by extending the evaluation to children with primary headache of different types. METHODS: We compared 62 children with headache (14 migraineurs with aura, 29 without aura and 19 with tension type headache) and 52 controls without headache, matched for age, sex, and intelligence using Conners' Continuous Performance Test. RESULTS: The 3 clinical groups did not differ in attentional measures. The headache patients, collapsed in 1 single sample, had mean scores in Hit Reaction Time significantly different from those of controls and also had a higher percentage of atypical scores in 2 indices of the Conners' Continuous Performance Test (faster mean reaction time and more commissions). CONCLUSIONS: Our results confirm the presence of an association between attentional problems and headache that may impact academic learning and daily activities on the long term. The finding that the 3 clinical groups did not show significant differences in attentional performance supports the hypothesis that migraine and tension headache form a continuum that may share the same pathophysiological mechanisms. These results are discussed considering that neurotransmitters and the cerebral circuits subserving headache, personality profile, and attention could overlap, thus predisposing these children to even mild attention malfunctioning.

Adaptive functioning in children in the first six months after surgery for brain tumours.

PURPOSE: To examine the adaptive functioning of children who underwent surgery for brain tumours with a view to analyse the related acute impairments and to describe their short-term outcome. METHOD: We investigated adaptive functioning in 25 children (ranging from 2 to 18 years of age) for 40 days and again 3 and 6 months after they underwent surgery for various brain tumours. The Vineland Adaptive Behaviour Scales (VABS) were used to assess their adaptive functioning, considering the four main domains and all the subdomains. RESULTS: The results remained stable over the follow-up period considered. The domain in which the scores were most severely affected was Daily Living, followed by the Socialisation and Communication domains. Within the Communication domain, the abilities investigated in the Receptive subdomain revealed the worst impairments. Within the Daily Living domain, impairments were most evident in the children's capacity to take care of themselves and handle domestic activities. In the Socialisation domain, Play and Leisure Time, and Interpersonal Relationships were the subdomains most severely impaired. CONCLUSIONS: These findings are relevant because identifying children's adaptive functioning difficulties sooner could help their rehabilitation to be tailored and thus have a positive fallout on their long-term outcome.

Use of ICF to describe functioning and disability in children with brain tumours.

PURPOSE: To underline the importance of Environmental Factors for reducing Disability and to demonstrate the complex condition of life, especially in terms of social inclusion and participation for children and adolescents affected by brain tumour. METHOD: An observational study applying the ICF version for Children and Youth (ICF-CY), the quality of life KIDSCREEN questionnaires and the Vineland assessment was performed. Age-specific ICF-CY Questionnaires were used to interview children at three time-points. RESULTS: Twenty-nine children were enrolled. Social life and relationships were crucial for defining children's disability level: formal and informal relationships showed to be very relevant to improve functioning (presence of facilitators in terms of more that 20% of cases). The severity of the disease makes the attention deeply focussed on treatment, neglecting other very important aspects in children's or adolescents' life such as their participation in life. CONCLUSIONS: The project highlighted some relevant issues about functioning and disability of these patients, in light of ICF's Biopsychosocial model of disability. Different rehabilitation projects are necessary for children and adolescents living after brain tumour. Considering treatment and the severity of tumour is very important to define pathways that should also include social and interpersonal aspects.

Progressive neurocognitive decline in two children with Dravet syndrome, de novo SCN1A truncations and different epileptic phenotypes.

Dravet syndrome, often caused by mutations of SCN1A-gene, presents with prolonged clonic, generalized or unilateral seizures often occurring with fever during the first year of life, followed by usually severe epilepsy. The EEG, normal at the outset, later shows generalized and focal epileptic activities. The psychomotor development deteriorates, but little is known about the time course of the cognitive impairment and its relationship with seizures severity. We describe here the progressive neurocognitive decline in two children (one male), carrying de novo SCN1A truncating mutations and presenting with different epileptic phenotypes. The children were longitudinally assessed from the ages of 11 and 23 months until the age of 7 and 8 years, using the same scales to measure the developmental competence in various domains. Both had seizures during the first year of life, unilateral clonic in one and myoclonic in the other, but the subsequent epilepsy severity and the characteristics of the EEG diverged. One child had drug-resistant but rare generalized seizures and isolated EEG spike-wave paroxysms, while the other developed extremely frequent clusters of polymorphic seizures and generalized plus multifocal EEG epileptic activities. MRI was normal in both. A clear developmental delay begun before the age of 2 years in both children and the cognitive profile continued to worse, with some differences between different domains, irrespectively to the different course of their epileptic histories. Our observations are consistent with the hypothesis that SCN1A-mutations can be responsible not only for epilepsy, but also for early and progressive severe mental impairment.

Cognition before and after chemotherapy alone in children with chiasmatic-hypothalamic tumors.

Studies on adults with cancer, with or without CNS involvement, have shown that chemotherapy (CT) can affect cognitive functions. Two studies on children with optic pathway gliomas, involving the hypothalamus in some cases, and treated with CT according to various protocols reported the children maintaining a good IQ (no other cognitive abilities were tested). Among 18 children with chiasmatic-hypothalamic tumors (CHT) given front-line CT treatment at our institute using the same protocol (cisplatin and etoposide), we screened eight children for cognitive sequelae, correlating their test performance with several clinical variables (age at diagnosis and at time of treatment, time elapsing since treatment, and tumor volume reduction). The neuropsychological evaluation involved measuring IQ in all eight children and cognitive flexibility in three before CT (T1), then testing IQ, attention, memory and executive functions after CT (T2). The group as a whole showed no signs of any decline in IQ from T1 to T2, except for some WISC items, but IQ deteriorated severely in three patients with NF1 (only suspected in one case). At T2, the whole sample performed within normal range, except for two children showing a significantly worse result in two specific tests. The parents of the other 10 children, reported no substantial changes in their children's behavior and intellectual vivacity in a semistructured telephone interview conducted in cooperation with the children's teachers. CT alone as front-line treatment for CHT does not appear to have a negative effect on IQ and numerous neuropsychological tests. Some skills were more affected than others in our sample (albeit with a very low statistical significance of the impairment), and some patients seemed to be more vulnerable than others after CT. The multifactorial origin of such cognitive impairments is discussed. This type of study needs to be repeated in larger, but nonetheless carefully selected groups of patients.

Memory performance on the California Verbal Learning Test of children with benign childhood epilepsy with centrotemporal spikes.

Verbal learning and retrieval, as well as the use of learning strategies, were assessed in 24 children with benign epilepsy with centrotemporal spikes (BECTS) and 16 controls, using the California Verbal Learning Test-Children's Version. Neuropsychological data were correlated with EEG features. Compared with age-matched controls, the children with BECTS younger than 10 exhibited significant learning difficulties and were less efficient in using a semantic clustering strategy, whereas no such difference emerged for subjects older than 10. This suggests that the capacity for spontaneous use of a more efficient strategy matures later in children with BECTS. Moreover, the majority of those younger than 10 had multifocal anomalies, suggesting that the difficulties encountered might be caused by the presence of additional foci.

Verbal dichotic listening performance and its relationship with EEG features in benign childhood epilepsy with centrotemporal spikes.

PURPOSE: Benign epilepsy of childhood with centrotemporal spikes (BECTS) is the most common form of idiopathic partial epilepsy in children from 3 to 12 years old. Little and far from conclusive information is available on its chronic impact on the organization of higher cognitive functions during development. The aim of this study was to assess the effect of interictal EEG discharges in the peri-sylvian regions on language lateralization in BECTS. METHODS: Twenty-four 7-12-year-old children with BECTS were compared with a control group of 16 healthy children matched for age, gender and schooling. Hemispheric speech lateralization was determined with the vowel-consonant dichotic listening (DL) test. RESULTS: DL data showed that BECTS children lacked the typical right ear/left hemisphere functional advantage. The side of the interictal spikes had no specific influence on DL performance, while a multifocal location of the discharges had a particularly significant effect on the laterality index, as shown by the complete loss of the right-ear advantage in favor of a symmetrical performance with the overall level of accuracy remaining constant. No correlation was found between spike frequency and DL data. CONCLUSIONS: BECTS coincides with an atypical performance in DL test with the loss of the usual right ear/left hemisphere advantage, suggesting that interictal activity may induce a reorganization of speech perception lateralization, with a bilateral representation of the phonological processing of auditory and verbal stimuli. This was particularly evident in the group with multifocal spikes, which may mean that a widespread hyperexcitability can affect the network underlying DL performance more severely.

Intellectual and language findings and their relationship to EEG characteristics in benign childhood epilepsy with centrotemporal spikes.

Recent research has revealed that benign childhood epilepsy with centrotemporal spikes (BECTS) causes deficient performance in various neuropsychological areas, without arriving at a definition of a uniform profile. The purpose of this study was to examine intelligence and certain language functions in 24 children with an active centrotemporal focus, comparing them with a group of 16 controls matched for age and schooling. Test results were correlated with several EEG characteristics, including focal versus multifocal presentation of interictal epileptiform activity, lateralization, spike maximum on midtemporal or extratemporal electrodes, and rate of interictal activity when awake and during non-REM sleep. Our study demonstrated that children with BECTS have mild language defects, revealed by tests measuring phonemic fluency, verbal re-elaboration of semantic knowledge, and lexical comprehension. Interictal EEG discharges demonstrated that a high rate of occurrence while awake, multifocal location, and temporal prominence seem to impair the efficiency of some of the neuropsychological functions investigated. However, because the last EEG was obtained within the last 2 months (on average) before the assessment, and because BECTS is a form of epilepsy with signs of cortical hyperexcitability that vary over time in terms of rate, side, and location, the pattern of neuropsychological deficiencies could have changed (at least to some degree) by the time of the test, with respect to the EEG variables considered.

Age-related trends in Stroop and conflicting motor response task findings.

Inhibition problems are reportedly at the heart of several childhood pathologies and learning disorders, but few instruments are available for their in-depth investigation. The main aim of the present study was to investigate the development of a capacity to inhibit automatic responses in young and middle childhood. For this purpose, 100 children between 6 and 11 years old were administered two tests that measure executive inhibition: an animal Stroop task (in a paper-and-pencil version of the computerized original proposed by Wright and colleagues in 2003) and a conflicting motor response task. Our results indicate that performance clearly improves in both tests during the course of a child's development and the data obtained with the paper-and-pencil animal Stroop task overlap with those obtained with the computerized version. When the task calls for a stronger inhibitory control (the incongruent situation in the Stroop task and in the opposite condition in the conflicting motor response test) the trend of the response times is less homogeneous, peaking in the youngest and oldest age brackets considered. The positivity and significance of the correlation coefficients between the two tests also suggest that the two measures are tapping cognitive abilities that are developing in a parallel fashion.