How do turbidite systems behave from the hydrogeological point of view? New insights and open questions coming from an interdisciplinary work in southern Italy.

Turbidite successions can behave either as aquitards or aquifers depending on their lithological and hydraulic features. In particular, post-depositional processes can increase rock permeability due to fracture development in the competent layers. Thus, at a local scale, turbidite systems warrant further detailed investigations, aimed at reconstructing reliable hydrogeological models. The objective of this work was to investigate from the hydrogeological perspective a turbiditic aquifer located in southern Italy, where several perennial and seasonal springs were detected. Considering the complex hydrodynamics of these systems at the catchment scale, to reach an optimal characterization, a multidisciplinary approach was adopted. The conceptual framework employed microbial communities as groundwater tracers, together with the physicochemical features and isotopic signature of springs and streams from water samples. Meanwhile, geophysical investigations coupled with the geological survey provided the contextualization of the hydrogeological data into the detailed geological reconstruction of the study area. This modus operandi allowed us to typify several differences among the samples, allowing identification of sources and paths of surface water and groundwater, along with diffuse groundwater outflow along streams. As a final result, a hydrogeological conceptual model was reconstructed, underlining how at a very local scale the lithologic, hydraulic, and geomorphological heterogeneity of the studied relief can lead to an improved hydrogeological conceptual model compared to that of other turbidite systems. These results open new questions about the hydrogeological behavior of turbiditic aquifers, which could be pivotal in future research. In fact, these systems could support relevant ecosystems and anthropic activities, especially where climate change will force the research of new (and probably less hydrogeologically efficient) water sources.

The Autism-Spectrum Quotient--Italian version: a cross-cultural confirmation of the broader autism phenotype.

The Autism Spectrum Quotient (AQ) has been used to define the 'broader' (BAP), 'medium' (MAP) and 'narrow' autism phenotypes (NAP). We used a new Italian version of the AQ to test if difference on AQ scores and the distribution of BAP, MAP and NAP in autism parents (n = 245) versus control parents (n = 300) were replicated in a Sicilian sample. Parents of children with autism spectrum conditions scored higher than the control parents on total AQ, social skills and communication subscales, and exhibited higher rates of BAP, MAP and NAP. We conclude that the Italian AQ is a cross-culturally reliable measure of these different phenotypes, and can be used to identify a phenotypic gradient of severity of autistic traits in families. To understand the molecular basis of these phenotypes will require its use in genetic association studies.

Compliant gluten-free children with celiac disease: an evaluation of psychological distress.

BACKGROUND: Children with chronic illnesses are known to have increased risks for emotional and behavioral problems. In the present study, children and adolescent suffering from celiac disease (CD) were compared with healthy controls to assess differences in the psychological profile. METHODS: A total of 100 well-treated and compliant CD patients (65 females/35 males; age mean ± SD: 10.38 ± 2.71) were compared to 100 normal controls (58 females/42 males; age mean ± SD: 11.47 ± 2.61). Emotional and behavioral problems were assessed by the Child Behavior Checklist (CBCL), the Children's Depression Inventory (CDI) and the Multidimensional Anxiety Scale for Children (MASC). RESULTS: Subjects with CD self-reported an increased rate of anxiety and depression symptoms and showed higher scores in "harm avoidance" and "somatic complaints", in the CBCL parent-report questionnaire, as compared to healthy control subjects. Furthermore, gender differences could be observed in the group of CD patients, with males displaying significantly higher CBCL externalizing scores, in social, thought and attention problems, as compared to female, who in turns showed more prominent internalizing symptoms such as depression. CONCLUSIONS: The increased rate of emotional and behavioral problems in children and adolescent with CD emphasizes the importance of an early detection of mental health problems in these children.

The forward parachute reaction and independent walking in infants with brain lesions.

AIM: The aim of this study was to assess the onset of forward parachute reaction (FPR) in infants with brain lesions and its correlation with age of walking. METHOD: FPR was assessed at 6, 9, and 12 months in 140 infants with brain lesions (78 males, 62 females; mean gestational age 31 wks; SD 3.6 wks; mean birthweight 1450 g, SD 252 g). On cranial ultrasound 62 infants had mild and 78 had major abnormalities; 86 developed cerebral palsy. All were followed for 5 years, and the age at which each child achieved independent walking was recorded. Infants who had been born small for gestational age (weight <10th centile) were excluded, as were those who had major congenital malformations, severe postnatal infectious diseases, or metabolic or haematological complications. RESULTS: A complete FPR was present in eight infants at 6 months, in 42 at 9 months, and in 71 at 12 months. At 12 months, 29 infants presented incomplete FPR and 40 presented absent FPR. Seventy-three infants were able to walk independently between the ages of 11 months and 60 months (67 with complete FPR and six with incomplete FPR at 12 mo). A complete FPR at 12 months was a good predictor of independent walking. The age at onset of complete FPR was also a good predictor of age of walking. INTERPRETATION: The late acquisition of a complete FPR appears to be an early sign of a more general delayed maturation of functional abilities.

Spectrum of gross motor and cognitive functions in children with cerebral palsy: gender differences.

BACKGROUND: Multiple differences between males and females are reported both in physiological and pathophysiological conditions. AIMS: To test the hypothesis that gender could influence the motor and cognitive development in children with cerebral palsy (CP). METHODS: Prospective, cross-sectional. One hundred seventy one children with CP (98 males and 73 females) were evaluated for motor (Gross Motor Function Measure, Gross Motor Function Classification System) and cognitive (Bayley II, Wechsler Scales) functions. Eighty-four of them were assessed before and other eighty-seven children after 4 years of age. RESULTS: No gender-related differences were observed in children with diplegia or quadriplegia, both for motor and cognitive functions. On the contrary, females with hemiplegia scored significantly better (P < 0.01) in cognitive functions and in the dimension D (standing) of the Gross Motor Function Measure, under the age of 4 years. These differences were not observed after this age. CONCLUSIONS: In this study we point out that gender might influence differently the psycho-motor development of children with hemiplegia and of those with a more severe clinical involvement as diplegia and quadriplegia.

A galactose-free diet enriched in soy isoflavones and antioxidants results in delayed onset of symptoms of Krabbe disease in twitcher mice.

Krabbe disease or globoid cell leukodystrophy is an autosomal recessively inherited disorder caused by the deficiency of galactocerebrosidase, the lysosomal enzyme that catalyzes the hydrolysis of galactose from galactosylceramide and galactosylsphingosine (psychosine). Psychosine accumulation results in the loss of myelin and oligodendrocytes in the brain of Krabbe patients as well as twitcher mice (natural model of human Krabbe disease). The aim of the present research was to investigate in twitcher mice the potential role of a diet deficient in galactose enriched in soy isoflavones and a pool of antioxidants molecules, such as l-glutathione, coenzyme Q10, xanthophylls, in counteracting the toxic effects derived by psychosine accumulation. A second goal of this manuscript was to demonstrate suppression of the apoptotic effects of psychosine in cultured oligodendrocyte progenitor mice cells (OLP-II) with antioxidants. The affected twitcher mice began the milk-derivatives free diet on post-natal day 15 although they also received mother's milk until post-natal day 18. Nevertheless, average life span was increased 50%, from 32+/-2 to 48+/-3 days, onset of tremor was delayed 17 days (from 21 days in the untreated twitcher mice to 38 days in the treated affected mice) and the gait in the treated mice was normal until almost a week after the untreated animals died (38+/-1 days versus 32 days at death). Weight gain in the treated animals also progressed to 38 days compared with 22 days for the untreated affected twitcher mice. Protection of the OLP-II cells against psychosine was shown using the MTT test (the ability of the tetrazolium salt MTT to form a dark blue formazan product by mitochondrial dehydrogenase in viable cells) and assay of expression of p53 and TNF-related apoptosis-inducing ligand (TRAIL). The results showed a time-dependent and concentration-dependent decrease of OLP-II viability on exposure to psychosine and dose-dependent protection with the antioxidants xanthophylls and glutathione. They also demonstrated that psychosine-induced p53 induction of apoptosis and TNF-related apoptosis-inducing ligand receptors could be decreased by l-glutathione and xanthophylls. A dietary approach may constitute a promising clinical management of the late-infantile and juvenile forms of Krabbe leukodystrophy.

Neurodevelopmental outcome at 12 and 18 months in late preterm infants.

BACKGROUND: Late-preterms represent the 70% of the whole preterm population and are reported to be at higher risk for mortality and morbidity than term infants. AIMS: To assess neurodevelopmental outcome in low-risk late-preterm infants at 12 and 18 months corrected age, to compare results of corrected and uncorrected age to those of term-born infants, to analyse the possible influence of gender on outcome. METHODS: Sixty-one healthy infants born between 33 and 36 weeks gestational age without major brain lesions were assessed at 12 and 18 months corrected age using the Bayley II scale. A control group of 60 low-risk term born infants underwent the same assessment. RESULTS: At 12 and 18 months corrected age late preterms showed a mean mental developmental index (MDI) similar to term infants. Comparing the results of the uncorrected age with term infants, the scores were significantly lower at both 12 and 18 months. No gender differences were observed in term-born infants, while male late-preterm infants showed lower MDI than peer females at both ages. CONCLUSIONS: When correcting age for prematurity late-preterms have similar MDI scores to those obtained in term-born infants at 12 and 18 months. In contrast, when using chronological age there is a number of infants with low MDI. As cognitive abnormalities are reported at school age in late preterm infants, our findings raise the question on whether the results obtained using scores uncorrected for age may early identify the infants who will show cognitive difficulties at school age.

Early assessment of visual function in preterm infants: how early is early?

BACKGROUND: Several studies reported on various aspects of visual function at term age and in the first months after birth but less has been reported in preterm infants before they reach termequivalent age. AIMS: To assess the suitability of a battery of tests of visual function for use in infants born at <33weeks gestation (GA) and assessed before 34weeks post-menstrual age (PMA); to evaluate the distribution of the findings according to GA, and to compare the data with those previously published on preterm infants assessed at 35weeks PMA. STUDY DESIGN: Cross-sectional study. SUBJECTS: Sixty-four preterm infants with a GA <33weeks were studied. OUTCOME MEASURES: We used a battery of visual function tests previously validated at 35 and 40weeks PMA in low-risk preterm infants. All the infants in this current study underwent the same assessment before 34weeks PMA. RESULTS: Before 31weeks PMA most infants could not be reliably assessed because of clinical instability, whilst after 31weeks PMA most infants could be assessed and they showed progressive maturation in their responses with PMA. Some items (spontaneous ocular motility, horizontal tracking, tracking a coloured stimulus, and ocular fixation) showed similar results at 32-33weeks PMA to those found in low-risk preterm at 35weeks PMA. Ocular movements to a target and arc tracking were the items with the most immature responses. CONCLUSIONS: Our results provide further evidence that a structured assessment of visual function can be used in clinical routine and for research purposes in infants as young as 31weeks PMA.

Emotional impact in beta-thalassaemia major children following cognitive-behavioural family therapy and quality of life of caregiving mothers.

BACKGROUND: Cognitive-Behavioural Family Therapy (CBFT) can be an effective psychological approach for children with beta-thalassaemia major, increasing compliance to treatment, lessening the emotional burden of disease, and improving the quality of life of caregivers. DESIGN AND METHODS: Twenty-eight beta-thalassaemic major children that followed CBFT for one year were compared with twenty-eight age-matched healthy children, focusing particularly on behavioural, mood, and temperamental characteristics as well as compliance with chelation, assessed using the Child Behaviour Checklist (CBCL), Children's Depression Inventory (CDI), Multidimensional Anxiety Scale for Children (MASC), and Emotionality, Activity, Sociability and Shyness Scale (EAS). We also monitored the quality of life of caregiving mothers using the World Health Organization Quality Of Life (WHOQOL-BREF) questionnaire. Data were analysed with non-parametric standard descriptive statistics. RESULTS: 90% of beta-Thalassaemic children showed good compliance with chelation therapy; however they had significantly increased somatic complains, physical symptoms and separation panic. Moreover, temperamental assessment revealed high emotionality and poor sociability in treated thalassaemic children and in their mothers. Physical and psychological domains concerning individual's overall perception of quality of life resulted impaired in mothers of beta-thalassaemic children. CONCLUSION: CBFT can be a valid tool to increase the compliance with chelation therapy in beta-thalassaemic children; however, treated children continue to show an important emotional burden; moreover, CBFT therapy seems not to have any positive impact on the quality of life of caregiving mothers, who may therefore need additional psychological support.

Early neurologic assessment in preterm-infants: integration of traditional neurologic examination and observation of general movements.

OBJECTIVE: To evaluate the possible additional benefit in terms of prognostic accuracy of an integrated application of a traditional scorable method of neurologic examination and the Prechtl's method of qualitative assessment of general movements (GMs) in a large population of 903 consecutive preterm infants. STUDY DESIGN: Infants were enrolled from the Intensive Care Unit of the University of Catania. Inclusion criteria were a gestational age below 37 weeks and the absence of genetic disorders. All infants underwent serial ultrasound and at 3 months performed both the GMs assessment and the Hammersmith Infant Neurologic Examination (HINE). Outcome was assessed at 2 years by the Touwen neurologic examination and the Clinical Adaptive Test/Clinical, Linguistic and Auditory Milestone Scale. RESULTS: The integration of the two methods was shown to be more effective than the single assessments in predicting neurologic outcome. The additional benefit of combining the two approaches was particularly clear for the discrimination between unilateral and bilateral cerebral palsy. CONCLUSIONS: The integrated use of a scorable neurological examination and Prechtl's assessment of GMs can improve early prediction of neurodevelopmental outcome in preterm infants and should complement other clinical and instrumental exams in follow-up programs.

No evidence for association between dyslexia and DYX1C1 functional variants in a group of children and adolescents from Southern Italy.

Recently, DYX1C1, a candidate gene for developmental dyslexia, encoding a nuclear tetratricopeptide repeat domain protein dynamically regulated in brain, has been characterized through a translocation breakpoint in a Finnish family. Two putatively functional variants, -3G/A and 1249G/T, have been reported to be significantly associated with dyslexia in this population. Further studies, conducted on different ethnic groups (English and Canadian), have not confirmed a role for DYX1C1 variants in increasing the risk for dyslexia. We investigated the role of these variants in dyslexic children and adolescents from Southern Italy. No significant evidence for association between dyslexia and these DYX1C1 putative functional variants has been shown. We argue that the different DYX1C1 allele frequencies shown among Italian and Finnish subjects with dyslexia could be attributable to the different linkage disequilibrium structure of these populations.

The General Movements in children with Down syndrome.

OBJECTIVE: Aim of our study was to describe the character of General Movements (GMs) in children with Down Syndrome (DS). MATERIAL AND METHODS: GMs of 23 children with DS and of 30 healthy full-term infants were assessed from birth to 6th month corrected age. A qualitative and a semi-quantitative evaluation of GMs were achieved for each child. Data were graphically displayed to obtain growth curves of motor optimality scores. RESULTS: GMs in children with DS are characterised by low-low/moderate speed, large-large/moderate amplitude, partially creating impression of fluency, smoothness and complexity, abrupt beginning and end, few other concurrent gross movements. During the 6 months, all children showed an improvement of qualitative and semi-quantitative evaluation, but it was possible to observe great heterogeneity among children in the evolutionary course. GMs evaluation of children with no known motor problems was normal, showing only slight and transient abnormalities at first months. CONCLUSION: GMs character of children with DS could be related to central nervous system and peripheral abnormalities characterizing this syndrome. The evaluation of GMs in children with DS could be an early marker of motor impairment and help in early management decisions making.