Effect of maternal psychopathology on neurodevelopmental outcome and quality of the dyadic relationship in preterm infants: an explorative study.

Background: The literature shows that parents of preterm infants are at risk of psychological distress and that this may impact on the quality of the parent-child relationship and on the child's development.Aim: This longitudinal study was conducted to examine in preterm infants relationships between maternal psychological variables, parental protective factors, perinatal infant variables, and neurodevelopmental outcome. Furthermore, we explored the impact of these variables on the quality of the mother-infant relationship (dyadic synchrony).Subjects and methods: A total of 29 preterm infants (GA < 34 weeks) and their mothers were evaluated twice: at t0, during the infant's hospitalization in the neonatal intensive care unit (NICU), and at 12 months of infant corrected age (t2).Results: With the exception of decreases in anxiety and perceived social support and an increase in the rate of severe depression at follow-up, there were no significant changes between t0 and t1 assessments. The infant's perinatal risk status was the variable that impacted most on maternal psychopathology. Furthermore, our data revealed that baseline maternal stress related to the appearance of the child and to the mother's perception of her parenting role represent a risk factor in relation to developmental outcome at 12 months of corrected age. Finally, no correlations emerged between dyadic synchrony and infant perinatal data, maternal psychological variables (at t0 and at t1), or child developmental outcome at t1.Conclusions: Our results underline the need to identify negative maternal affective states early in the mother-child relationship and to provide mothers with adequate support in the NICU, to enhance their parental role.

Depressive symptoms and maternal psychological distress during early infancy: A pilot study in preterm as compared with term mother-infant dyads.

BACKGROUND: Preterm birth does not only affect infants but also represents an unexpected and traumatic event for parents. There are few reports on parenting stress during early infancy comparing preterm and term mothers, with the results being somewhat inconsistent. METHODS: As part of a longitudinal study, preterm mother-infant and term mother-infant dyads were enrolled. Dyads were assessed twice: during hospitalisation in the neonatal intensive care unit (NICU) and at 3 months of infant age (corrected age for preterm). Each mother completed a self-report set of psychological questionnaire in both time points. All the children underwent a neurological examination at 40 weeks post conceptional age and at 3 months (corrected age for preterm). RESULTS: 20 preterm and 20 term dyads were included. NICU mothers reported elevated postnatal depressive symptoms and high stress level, even if the preterm infants were with low perinatal risk and normal neurological examination. Comparing preterm infant with low perinatal risk and normal neurological examination with term-born children at 3 months, we found higher parental stress in term mothers than in preterm mothers. LIMITATIONS: This study was limited by a relatively small sample size; findings are preliminary and warrant further investigation in larger-scale study. CONCLUSIONS: Findings confirm that becoming a mother of a preterm infant is an event associated with emotional distress. These symptoms may resolve with time, and sometimes are independent of the infant's clinical severity. Assessing parental sources of stress and subsequent follow-up is essential to promote parental support, both for preterm and term mothers.

The Mother-Child Relationship during the First Months of Life: Preliminary Considerations in Preterm as Compared with Term Mother-Infant Dyads.

INTRODUCTION: From the prognostic perspective, the quality of the mother-child relationship during the first months of life has been variously associated with different factors such as the child's psychomotor/cognitive development and emotional-behavioral disorders. METHODS: The main aim of this study was to describe, at term age and 3 months of corrected age, the features and the prevalent patterns of the mother-child relationship in a group of 20 mother-preterm infant dyads and to compare them with those of a group of 20 mother-term infant dyads. RESULTS: A relatively high rate of inadequate dyadic synchrony was found in our sample of preterms at 40 weeks of gestational age (half of the sample analyzed). The quality of the dyadic relationship and the prevalent patterns of the mother-child relationship were found to differ between the two groups we studied; moreover, the subjects at risk of relational problems remained substantially the same during the first 3 months of life. DISCUSSION: These data underline that in preterm children, the first weeks of life, coinciding with their hospitalization, represent a crucial time for establishing a valid dyadic relationship and for considering and planning any preventive interventions; after all, the earlier the risk of relational problems becomes a real possibility, the more likely it is to negatively impact on a child's overall development.

Deconstructing vulnerability for psychosis: Meta-analysis of environmental risk factors for psychosis in subjects at ultra high-risk.

BACKGROUND: Subjects at ultra high-risk (UHR) for psychosis have an enhanced vulnerability to develop the disorder but the risk factors accounting for this accrued risk are undetermined. METHOD: Systematic review of associations between genetic or environmental risk factors for psychosis that are widely established in the literature and UHR state, based on comparisons to controls. RESULTS: Forty-four studies encompassing 170 independent datasets and 54 risk factors were included. There were no studies on association between genetic or epigenetic risk factors and the UHR state that met the inclusion criteria. UHR subjects were more likely to show obstetric complications, tobacco use, physical inactivity, childhood trauma/emotional abuse/physical neglect, high perceived stress, childhood and adolescent low functioning, affective comorbidities, male gender, single status, unemployment and low educational level as compared to controls. CONCLUSIONS: The increased vulnerability of UHR subjects can be related to environmental risk factors like childhood trauma, adverse life events and affective dysfunction. The role of genetic and epigenetic risk factors awaits clarification.

Atypical Manifestations in Glut1 Deficiency Syndrome.

Glucose transporter type 1 deficiency syndrome is a genetically determined, treatable, neurologic disorder that is caused by an insufficient transport of glucose into the brain. It is caused by a mutation in the SCL2A1 gene, which is so far the only known to be associated with this condition. Glucose transporter type 1 deficiency syndrome consists of a wide clinical spectrum that usually presents with cognitive impairment, epilepsy, paroxysmal exercise-induced dyskinesia, acquired microcephaly, hemolytic anemia, gait disturbance, and dyspraxia in different combinations. However, there are other clinical manifestations that we consider equally peculiar but that have so far been poorly described in literature. In this review, supported by a video contribution, we will accurately describe this type of clinical manifestation such as oculogyric crises, weakness, paroxysmal kinesigenic and nonkinesigenic dyskinesia in order to provide an additional instrument for a correct, rapid diagnosis.

Identifying children and adolescents at ultra high risk of psychosis in Italian neuropsychiatry services: a feasibility study.

The past 20 years have seen the evolution of the construct of a clinical high-risk (hereafter, HR) state for psychosis. This construct is designed to capture the pre-psychotic phase. Some aspects of this approach, such as its feasibility in children and adolescents, are still under investigation. In the present study, we address the feasibility of implementing prodrome clinics for HR individuals within the framework of Italy's national child and adolescent neuropsychiatry services and the clinical relevance of a HR diagnosis in this population. Using the Comprehensive Assessment of At-Risk Mental States (CAARMS) to identify help-seeking patients meeting at least one HR criterion at baseline (HR+), we recruited 50 subjects for a feasibility study. The results obtained show that the Italian version of the CAARMS is easily administrable, causing patients no substantial discomfort. The prevalence of HR+ in our cohort was 44 %, which increased by an additional 18 % when negative symptoms were considered as an experimental inclusion criterion (HRNeg). The HR+ subjects were significantly more impaired in their social and occupational functioning than their HR- peers (subjects not at HR). The cumulative 1-year transition risk of psychosis of the HR+ group was 26.7 %. When the HRNeg group was added, the 1-year transition risk was 17.3 %. We suggest that administration of the CAARMS to children and adolescents with putative prodromal psychosis is feasible and that this assessment can easily be integrated into existing Italian neuropsychiatry services although clinicians should interpret results with caution as results in this age group still have to be replicated.

Alexithymic characteristics in pediatric patients with primary headache: a comparison between migraine and tension-type headache.

BACKGROUND: Alexithymia is a personality construct characterized by difficulties in verbal emotional expression and a limited ability to use one's imagination. Evidence of alexithymic characteristics was found in adults suffering from headache, while little is known about children. The aim of this study was to establish the prevalence of alexithymia in two different subgroups of children and adolescents suffering from primary headache. We also looked for correlation between alexithymia in children and in their mothers. METHODS: This study involved 89 participants: 47 (11 males, 36 females, aged 8 to 17 years) suffering from tension-type headache (TTH), and 42 (18 males, 24 females, aged 8 to 17 years) suffering from migraine (M), based on the International Classification of Headache Disorders (ICHD 2013). A control group of 32 headache-free subjects (26 females and 6 males, aged 8 to 17 years) was also considered. Two questionnaires were administered to measure alexithymia: the Alexithymia Questionnaire for Children to young patients and controls, and the Toronto Alexithymia Scale (TAS-20) to the mothers. RESULTS: Higher rates of alexithymia emerged in the TTH group compared to the M group. In particular, TTH sufferers had difficulty identifying their feelings. The mothers of children with headaches didn't score higher in alexithymia compared to other mothers. In the M and in the control group, there was a significant correlation between the rates of alexithymia in young people and in their mothers. CONCLUSIONS: To date no other study has investigated alexithymia in subgroups of primary headaches in developmental age. Our results suggest that patients suffering from TTH are more alexithymic than M patients. This pave the way to etiopathogenetic and clinical considerations, calling for a comprehensive and multidisciplinary approach to tackle the problem of headache.

Dysregulation of the immune system in Aicardi-Goutières syndrome: another example in a TREX1-mutated patient.

Aicardi-Goutières syndrome (AGS) is a rare genetic encephalopathy characterized by neurological and extraneurological involvement. A clinical overlap between AGS and systemic lupus erythematosus (SLE) has been reported. We describe an AGS patient who developed autoimmune manifestations: thyroiditis, cANCA positivity, antiphospholipid antibodies and cerebral ischemia. This first description of antiphospholipid syndrome in a TREX1-mutated patient further expands the clinical spectrum of AGS. Although the clinical overlap with SLE may indicate common pathogenic mechanisms, the autoimmune manifestations in AGS are so extensive that we suggest they should be considered a clinical feature of the disease, rather than a sign of coexistent SLE.

Inhibition of the de-myelinating properties of Aicardi-Goutières syndrome lymphocytes by cathepsin D silencing.

Molecular mechanisms relating interferon-alpha (IFN-alpha) to brain damage have recently been identified in a microarray analysis of cerebrospinal fluid lymphocytes from patients with Aicardi-Goutières Syndrome (AGS). These findings demonstrate that the inhibition of angiogenesis and the activation of neurotoxic lymphocytes are the major pathogenic mechanisms involved in the brain damage consequent to elevated interferon-alpha levels. Our previous study demonstrated that cathepsin D, a lysosomal aspartyl endopeptidase, is the primary mediator of the neurotoxicity exerted by AGS lymphocytes. Cathepsin D is a potent pro-apoptotic, neurotoxic, and demyelinating protease if it is not properly inhibited by the activities of leukocystatins. In central nervous system white matter, demyelination results from cathepsin over-expression when not balanced by the expression of its inhibitors. In the present study, we used RNA interference to inhibit cathepsin D expression in AGS lymphocytes with the aim of decreasing the neurotoxicity of these cells. Peripheral blood lymphocytes collected from an AGS patient were immortalized and co-cultured with astrocytes in the presence of interferon alpha with or without cathepsin D RNA interference probes. Cathepsin D expression was measured by qPCR, and neurotoxicity was evaluated by microscopy. RNA interference inhibited cathepsin D over-production by 2.6-fold (P<0.01) in AGS lymphocytes cultured in the presence of interferon alpha. AGS lymphocytes treated using RNA interference exhibited a decreased ability to induce neurotoxicity in astrocytes. Such neurotoxicity results in the inhibition of astrocyte growth and the inhibition of the ability of astrocytes to construct web-like aggregates. These results suggest a new strategy for repairing AGS lymphocytes in vitro by inhibiting their ability to induce astrocyte damage and leukodystrophy.

Aicardi-Goutieres syndrome, a rare neurological disease in children: a new autoimmune disorder?

Aicardi-Goutieres syndrome (AGS), described by J. Aicardi and F. Goutieres in 1984, is a rare neurological disease with onset in infancy. It is often misdiagnosed as a sequela of congenital infection or recognized later. Nowadays almost 200 cases are reported all over the world, most of them collected by the International Aicardi-Goutieres Syndrome Association (IAGSA), founded in Pavia (Italy) in 2000. AGS (MIM 225750) is a genetically-determined encephalopathy characterized by severe neurological dysfunction, acquired microcephaly associated with severe prognosis quoad valetudinem, and less frequently also quoad vitam. Some AGS children also develop some symptoms overlapping with systemic lupus erythematosus (SLE). Intracranial calcification, white matter involvement and brain atrophy revealed on MRI, lymphocytosis and elevated levels of interferon alpha (IFN-α) in the cerebrospinal fluid (CSF) are features of both AGS and congenital viral infection. No evidence of congenital infection at serological exams has ever been found. A genetic etiology was hypothesized since the first descriptions, because of the recurrence in families, and demonstrated some years ago. Nowadays five genes (AGS1-5), if mutated, can be responsible for 90% of the cases. The transmission is autosomal recessive but there are also rare "de novo" autosomal dominant cases. Even if pathogenesis is still almost unknown, it seems that responsible genes are involved in nucleic acid reparation mechanisms and consequently in a secondary activation of innate autoimmunity. The relative lack of precise information on pathogenesis and on the evolution of the disease over time has not yet allowed the creation of codified diagnostic and therapeutic models and programs.

Inhibition of neuroblastoma cell growth by TREX1-mutated human lymphocytes.

T lymphocytes play a major role in counteracting cancer occurrence and development. Immune therapies against cancer are focused on eliciting a cytotoxic T cell response. This anticancer activity is related to a variety of mechanisms including the activation of cytokines and proapoptotic mediators. Interferon α is an established inhibitor of cancer cell growth. A clinical situation involving the coexistence of high interferon α levels and lymphocyte activation is the Aicardi-Goutières syndrome, a progressive encephalopathy arising usually during the first year of life characterized by intracranial basal ganglia calcifications, leukodystrophy and microcephaly. Aicardi-Goutières syndrome 1 mutation silences the TREX1 gene, a major endogenous nuclease. The in vitro study presented herein evaluates the efficacy of the TREX1 mutation in potentiating the anticancer properties of T cells. A TREX1-mutated lymphocyte cell line was derived from an Aicardi-Goutières syndrome patient and co-cultured with neuroblastoma cells and vascular endothelial cells in the presence of interferon α. TREX1-mutated lymphocytes exerted marked inhibitory action on neuroblastoma cell growth. Cathepsin D was recognized by qPCR as the main mediator produced by TREX1-mutated lymphocytes involved in the inhibition of neuroblastoma cell growth. These effects were enhanced in the presence of interferon α. Similar inhibitory effects in cell growth were exerted by TREX1-mutated lymphocytes towards vascular endothelial cell angiogenesis as evaluated on Matrigel. The results obtained provide evidence that mutations of the TREX1 gene increase the capability of T-lymphocytes to inhibit growth of neoplastic neuronal cells and related angiogenesis.

Reliability and validity of the Comprehensive Assessment of the At Risk Mental State, Italian version (CAARMS-I).

The Comprehensive Assessment of the At Risk Mental State (CAARMS) is a semi-structured interview designed to assess attenuated psychotic symptoms in people at ultra high risk of developing psychosis (UHR). It is widely used worldwide but no studies have ever assessed its psychometric properties in the Italian population. Here we tested the reliability and validity of the Italian version of the CAARMS (CAARMS-I). Psychometric properties (inter-rater reliability, internal coherence, construct validity, concurrent validity and predictive validity) were assessed in an Italian sample of ARMS subjects, first-episode subjects and matched controls. We found that the CAARMS-I demonstrates adequate validity and reliability and appears to be helpful in the diagnosis of the ARMS and prediction of psychosis transition.

The Aicardi-Goutières syndrome. Molecular and clinical features of RNAse deficiency and microRNA overload.

Intracellular RNAses are involved in various functions, including microRNA maturation and turnover. Mutations occurring in genes encoding RNAses cause Aicardi-Goutiéres syndrome (AGS). AGS mutations silence RNAse activity, thus inducing accumulation of endogenous RNAs, mainly consisting of short RNAs and microRNAs. Overload of intracellular RNA triggers Toll like receptor-dependent interferon-alpha production in the brain, which in turn activates neurotoxic lymphocytes and inhibits angiogenesis thus inducing the typical clinical phenotype of AGS. However, these pathogenic mechanisms are attenuated after three years of age by the endogenous production of DNAJP58IPK and Cystatin F, which arrest AGS progression. Because RNAses are involved in microRNA turnover, we evaluated the expression of 957 microRNAs in lymphocytes from AGS patients and control patients. Our results indicate that microRNA overload occurs in AGS patients. This upregulation inhibits microRNA turnover impeding the synthesis of the novel microRNAs required for the differentiation and myelination of the brain during the initial period of postnatal life. These pathogenic mechanisms result in AGS, a neurological syndrome characterized by irritability, mild hyperpyrexia, pyramidal and extrapyramidal signs, and spastic-dystonic tetraplegia. Typical cerebrospinal fluid alterations include lymphocytosis and elevated interferon-alpha levels. Brain imaging demonstrates cerebral calcifications, white matter abnormalities, and progressive cerebral atrophy.Thus, evidence exists that mutations silencing intracellular RNases affect microRNA turnover resulting in the severe clinical consequences in the brain characterizing the clinical feature of AGS.

Osmophobia in migraine classification: a multicentre study in juvenile patients.

AIMS: This study was planned to investigate the diagnostic utility of osmophobia as criterion for migraine without aura (MO) as proposed in the Appendix (A1.1) of the International Classification of Headache Disorders (ICHD-II, 2004). METHODS: We analysed 1020 patients presenting at 10 Italian juvenile headache centres, 622 affected by migraine (M) and 328 by tension-type headache (TTH); 70 were affected by headache not elsewhere classified (NEC) in ICHD-II. By using a semi-structured questionnaire, the prevalence of osmophobia was 26.9%, significantly higher in M than TTH patients (34.6% vs 14.3%). RESULTS: Osmophobia was correlated with: (i) family history of M and osmophobia; and (ii) other accompanying symptoms of M. By applying these 'new' criteria, we found an agreement with the current criteria for the diagnosis of migraine without aura (MO) in 96.2% of cases; 54.3% of previously unclassifiable patients received a 'new' diagnosis. CONCLUSIONS: In conclusion, this study demonstrates that this new approach, proposed in the Appendix (A1.1), appears easy to apply and should improve the diagnostic standard of ICHD-II in young patients too.

Migraine with aura with onset in childhood and adolescence: long-term natural history and prognostic factors.

The long-term course of migraine with aura (MA) has been poorly explored. The present 11-year follow-up study assessed the long-term natural history and possible prognostic factors of MA with onset in childhood or adolescence. Patients were recruited from the original case records of our department, which are specifically designed to report all headache characteristics, aura symptoms and electroencephalogram (EEG) findings. A total of 77 patients (47 females; 30 males) whose records contained detailed descriptions of both headache and aura symptoms apparently meeting the International Classification of Headache Disorders (ICHD)-II criteria for MA (i.e., 1.2.1, 1.2.2, 1.2.6) underwent structured face-to-face follow-up headache interviews, all of which were conducted by the same neurologist, who has particular expertise in this field. A multivariate model (logistic regression analysis) was used to investigate the association between possible prognostic factors and the remission of both aura and headache at follow-up. The results of our study showed that 23.4% of the MA patients were headache-free at follow-up, 44.1% still had MA and 32.5% had a transformed headache diagnosis (i.e., fulfilling the criteria for ICHD-II 1.1. or 2). Patients with basilar-type migraine (1.2.6) showed the highest headache remission rate (38.5%). Our study seems to show that migraine with typical aura (1.2.1-1.2.2) is associated with a favourable evolution of aura symptoms over time (remission of aura in 54.1% of patients). Subjects experiencing only visual aura had a lower remission rate compared with those with visual +/- sensory +/- aphasic aura symptoms (36.8% vs. 61.5%, p = 0.054). A short headache duration (<12 hrs) and the presence of EEG abnormalities at baseline were the only significant predictors of aura remission at follow-up (odds ratio [OR] = 9.12, 95% confidence interval [CI]: 1.79 +/- 46.51, and OR = 4.76, 95% CI: 1.18 +/- 19.15, respectively). No significant predictors of headache remission were found. In conclusion, our results suggest that MA shows a favourable course. Further prospective studies with detailed EEG analysis both at baseline and at follow-up are needed in order to confirm the possible prognostic role of EEG abnormalities in MA. That said, it would, in our opinion, be highly premature at present to submit children with MA to EEG examinations for prognostication purposes.

Mitral valve prolapse and abnormalities of haemostasis in children and adolescents with migraine with aura and other idiopathic headaches: a pilot study.

OBJECTIVE: To investigate the prevalence of mitral valve prolapse (MVP) and abnormalities of haemostasis in children and adolescents with migraine with aura (MA) compared with peers affected by other idiopathic headaches. MATERIALS AND METHODS: We recruited 20 MA patients (10 men and 10 women; age range 8-17 years) and 20 sex- and age-matched subjects with other idiopathic headaches. Both groups underwent colour Doppler transthoracic echocardiography to detect MVP and the following laboratory work-up: plasma prothrombin time, activated partial thromboplastin time, thrombin time, fibrinogen, protein C, protein S, homocysteine, lupus anticoagulant, von Willebrand factor (vWF) ristocetin cofactor activity, immunoglobulins (Ig) G and M anticardiolipin antibodies (aCL). Factor V Leiden, factor II and methylenetetrahydrofolate reductase were investigated (we did not test the entire genes, but screened for specific point mutations). RESULTS: The prevalence of MVP was significantly higher in the MA subjects than in the patients affected by other idiopathic headaches (40% vs 10%; P < 0.05). Moreover, the MA patients showed a higher rate of above-normal IgM aCL titres (45% vs 10%; P < 0.05). Finally, in the group of patients with MVP we found a higher prevalence of aCL in those with MA compared with those affected by other idiopathic headaches. CONCLUSIONS: A proportion, at least, of the MA patients showed a more complex phenotype characterized by MVP and/or positive aCL titres. The pathogenetic role of these associations is obscure and larger studies are needed to confirm the usefulness of echocardiographic and laboratory investigations in this area and to identify possible new treatment approaches that might be explored in this group of MA patients.

Therapy-resistant cluster headache in childhood: case report and literature review.

The mean age of onset of cluster headache (CH) is in the late third decade. Only few cases of childhood-onset (< 14 years) CH have been reported in the literature. We report the case of an 11-year-old boy who suffered from sudden attacks of shock-like, intense pain, localized in the right orbital region, with associated photophobia, phonophobia, conjunctival injection, lacrimation, nasal congestion, rhinorrhoea and psychomotor agitation. The episodes lasted 60-180 min, and the headache frequency was one to three per day. Physical and neurological examinations, magnetic resonance imaging and blood examinations were normal. The first bout lasted 8 months. Attacks were resistant to every symptomatic and partially to prophylactic treatment that has been tried. The second bout lasted approximately 2 months.

Epilepsy surgery in tuberous sclerosis complex: early predictive elements and outcome.

AIM: The aim of the study was to evaluate the surgical treatment of epilepsy and detection of possible early surgery predictive elements in patients with tuberous sclerosis complex (TSC). MATERIALS AND METHODS: Forty-two TSC patients with epilepsy were selected and divided into two main groups: definite and fruste forms. Definite forms were divided into different groups: patients with pharmacologically controlled epilepsy, patients with pharmacoresistant epilepsy excluded from surgery after an extensive presurgical assessment, and patients with a pharmacoresistant epilepsy who underwent surgery. We compared the definite TSC groups to identify elements that predict surgical candidacy. Second, we compared all operated patients to assess surgical outcome. CONCLUSION: We found several factors that could predict a surgical intervention even if identification of patients with refractory epilepsy who can benefit from surgery is an evolving process. Also, several positive factors for good surgical outcome were identified. Patients with the fruste form had excellent surgical outcome.

Academic performance in children with rolandic epilepsy.

The aim of this study was to investigate the frequency of reading, writing, and calculation disabilities in children with typical rolandic epilepsy (RE) and healthy control children. We also aimed to define the possible electroclinical markers of specific cognitive dysfunctions in RE. School abilities were evaluated and compared in 20 children (eight males, 12 females; mean age 10y 3mo [SD 1y 7mo]; range 7y 9mo-12y 9mo) consecutively diagnosed with typical RE, and a group of 21 healthy controls (nine males, 12 females; mean age 10y 4mo [SD 1y 8mo]; range 7y 6mo-13y 3mo). All the children received standardized neuropsychological tests. For each patient an exhaustive seizure diary was kept and all the sleep electroencephalogram (EEG) recordings were reviewed. Specific difficulties with reading, writing, and calculation (diagnosed according to the criteria of the Diagnostic and Statistical Manual of Mental Disorders, 4th edition) were found in nine out of 20 children with RE and two out of 21 healthy controls (chi2=0.01). The specific learning disabilities in the RE group were correlated with a marked increase in epileptiform discharges during sleep (chi2=0.02) and an early onset of epilepsy (chi2=0.02). Our findings suggest that seizure onset before age 8 years and epileptiform discharges (more than 50% of the sleep EEG recording) in several tracings over more than a year are relevant markers for identifying patients at risk of developing academic difficulties.

Neuropsychological profile of pre-schoolers with metaphonological difficulties: results from a non-clinical sample.

BACKGROUND: The level of language development reached in pre-school age is considered the most reliable predictor of reading acquisition. In normally developing children, learning to read is strongly related to early language skills, and in particular to phonological processing abilities. In dyslexic children, reading abilities seem to show a correlation with phonological awareness. METHODS: A group of 65 children (aged 5-6 years) were recruited and submitted to an in-depth neuropsychological assessment [i.e. metaphonological skills, intelligence, verbal short-term memory (VSTM) and other aspects of receptive and expressive language]. We were able to identify 14 children with significant metaphonological difficulties (MD): 11 children with exclusively MD, and the other three children with specific language impairment. This study compares the neuropsychological profile obtained from children with MD with that of a peer group without any language impairment (N). RESULTS: The performances of the MD were within the normal ability range in almost all the administered tests but significantly lower compared with those of their peers without language impairment (N) in some items of the intelligence scale (Wechsler Preschool and Primary Scale of Intelligence) and in the tests of VSTM and of receptive/expressive language. Nevertheless, there were not statistically significant differences between MD and N in output phonology. CONCLUSIONS: In pre-school age, in a group of non-clinical children, with a range of abilities, those with MD appear to be at the lower end of the normal range in many other verbal skills. These children could be considered at-risk for possible subsequent difficulties learning to read and thus need to be identified and to warrant prompt treatment.