GRIN2B predicts attention problems among disadvantaged children.

It is well established that adversities and GRIN2B (coding an N-methyl-D-aspartate receptor subunit) are independently associated with behavioral and cognitive impairments in childhood. However, a high proportion of children exposed to adversities have good, long-term outcomes. We hypothesized that among children exposed to adversities, GRIN2B variants would predict the worst cognitive and behavioral outcomes.

The role of DCDC2 genetic variants and low socioeconomic status in vulnerability to attention problems.

Both genetic and socio-demographic factors influence the risk for behavioral problems in the developmental age. Genetic studies indicate that shared genetic factors partially contribute to behavioral and learning problems, in particular reading disabilities (RD). For the first time, we explore the conjoint role of DCDC2 gene, an identified RD candidate gene, and socioeconomic status (SES) upon behavioral phenotypes in a general population of Italian children.

The DCDC2/intron 2 deletion and white matter disorganization: focus on developmental dyslexia.

Introduction: The DCDC2 gene is involved in neuronal migration. Heterotopias have been found within the white matter of DCDC2-knockdown rats. A deletion in DCDC2/intron 2 (DCDC2d), which encompasses a regulatory region named 'regulatory element associated with dyslexia 1' (READ1), increases the risk for dyslexia.

Putative risk factors in developmental dyslexia: a case-control study of Italian children.

Although dyslexia runs in families, several putative risk factors that cannot be immediately identified as genetic predict reading disability. Published studies analyzed one or a few risk factors at a time, with relatively inconsistent results. To assess the contribution of several putative risk factors to the development of dyslexia, we conducted a case-control study of 403 Italian children, 155 with dyslexia, by implementing a stepwise logistic regression applied to the entire sample, and then to boys and girls separately.

Adult attachment interviews of women from low-risk, poverty, and maltreatment risk samples: comparisons between the hostile/helpless and traditional AAI coding systems.

The main aim of this study was to investigate the correlates of a Hostile-Helpless (HH) state of mind among 67 women belonging to a community sample and two different at-risk samples matched on socio-economic indicators, including 20 women from low-SES population (poverty sample) and 15 women at risk for maltreatment being monitored by the social services for the protection of juveniles (maltreatment risk sample). The Adult Attachment Interview (AAI) protocols were reliably coded blind to the samples' group status. The rates of HH classification increased in relation to the risk status of the three samples, ranging from 9% for the low-risk sample to 60% for the maltreatment risk sample to 75% for mothers in the maltreatment risk sample who actually maltreated their infants.

DCDC2 genetic variants and susceptibility to developmental dyslexia.

Objective(s): Developmental dyslexia is a heritable condition, with genetic factors accounting for 44-75% of the variance in performance tests of reading component subphenotypes. Compelling genetic linkage and association evidence supports a quantitative trait locus in the 6p21.3 region that encodes a gene called DCDC2.

Primary progressive aphasia in a bilingual speaker: a single-case study.

We report on the case of an elderly bilingual woman presenting with a diagnosis of primary progressive aphasia. The participant's native language was Friulian (L1), a predominantly oral Romance language, and her second language was Italian (L2), formally learned at primary school in oral and written forms. We investigated her linguistic abilities by means of the Bilingual Aphasia Test ( Paradis, M.

Pleiotropic effects of DCDC2 and DYX1C1 genes on language and mathematics traits in nuclear families of developmental dyslexia.

Converging evidence indicates that developmental problems in oral language and mathematics can predate or co-occur with developmental dyslexia (DD). Substantial genetic correlations have been found between language, mathematics and reading traits, independent of the method of sampling. We tested for association of variants of two DD susceptibility genes, DCDC2 and DYX1C1, in nuclear families ascertained through a proband with DD using concurrent measurements of language and mathematics in both probands and siblings by the Quantitative Transmission Disequilibrium Test.

A familial inverted duplication/deletion of 2p25.1-25.3 provides new clues on the genesis of inverted duplications.

We studied a family in which the same 10 Mb inverted duplication of 2p25.3-p25.1 segregates in two children and their father, all showing a trisomy phenotype.

Levetiracetam in nonconvulsive status epilepticus in childhood: a case report.

The authors report the case of a child with cerebral palsy and refractory epilepsy who developed nonconvulsive status epilepticus without acute medical cause treated successfully with levetiracetam. In accordance with other studies whose authors hypothesized that aggressive treatment may worsen the prognosis in elderly patients with nonconvulsive status epilepticus, the present authors successfully used a more conservative approach to the treatment of nonconvulsive status epilepticus in their patient. This case suggests that levetiracetam is a useful option for the treatment of nonconvulsive status epilepticus in childhood, in accordance with some authors who have described the anticonvulsant effects of levetiracetam in experimental status epilepticus and in status epilepticus in adults and in children with continuous spike waves during slow sleep.

Association of short-term memory with a variant within DYX1C1 in developmental dyslexia.

A substantial genetic contribution in the etiology of developmental dyslexia (DD) has been well documented with independent groups reporting a susceptibility locus on chromosome 15q. After the identification of the DYX1C1 gene as a potential candidate for DD, several independent association studies reported controversial results. We performed a family-based association study to determine whether the DYX1C1 single nucleotide polymorphisms (SNPs) that have been associated with DD before, that is SNPs '-3GA' and '1249GT', influence a broader phenotypic definition of DD.

A novel familial MECP2 mutation in a young boy: clinical and molecular findings.

We describe the clinical and molecular findings of a 6-year-old boy carrying a novel missense 964C>T mutation on the MECP2 gene. The patient shows moderate mental retardation with autistic features and epilepsy. His mother is heterozygous for the same mutation.

Impulsivity in depressed children and adolescents: a comparison between behavioral and neuropsychological data.

Impulsivity at the neuropsychological and behavioral levels was investigated in a sample of drug-naive depressed children and adolescents. The performance of 21 patients with a current diagnosis of mood disorder was compared with that of 21 normal controls on tests of executive functions related to impulsivity (Matching Familiar Figures Test, Continuous Performance Test, Verbal Fluency, Stroop Test, and Walk-Don't Walk) and on impulsive/restless behavior on the Conners' Parent Rating Scale. Depressed children and adolescents showed a pattern of conservative response style, with slow reaction times and attentional problems, similar to that observed in adults, and a general delay/difficulty in response initiation on the Fluency Test.

A family-based association study does not support DYX1C1 on 15q21.3 as a candidate gene in developmental dyslexia.

We applied a family-based association approach to investigate the role of the DYX1C1 gene on chromosome 15q as a candidate gene for developmental dyslexia (DD) to 158 families containing at least one dyslexic child. We directly sequenced exons 2 and 10 of the DYX1C1 gene and found eight single nucleotide polymorphism (SNPs), three of which (-3G>A, 1249 G>T, 1259 C>G) were suitable for the genetic analyses. We performed single- and multimarker association analyses with DD as a categorical trait by FBAT version 1.

No evidence for association and linkage disequilibrium between dyslexia and markers of four dopamine-related genes.

Dopamine genes are candidate genes for dyslexia in the light of the well-known comorbidity between dyslexia and ADHD. Within-family association and linkage disequilibrium were tested between four genetic markers at DRD4, DRD3, DRD2, and DAT loci, and dyslexia, in a sample of 130 Italian dyslexic children, 16.9% of whom had comorbid ADHD.

Peripheral markers of the gamma-aminobutyric acid (GABA)ergic system in Angelman's syndrome.

It has recently been demonstrated that patients with Angelman's syndrome who exhibited a deletion on cytogenetic tests show more severe clinical pictures with drug-resistant epilepsy than patients with Angelman's syndrome not carrying the deletion. To verify if this difference in clinical severity can be attributed to genes for the three gamma-aminobutyric acid (GABA)A receptor subunits (GABRB3, GABRA5, GABRG3) located in the deleted region, a possible modification of peripheral markers of the GABAergic system was investigated in 12 subjects with Angelman's syndrome and 20 age-matched subjects (8 with idiopathic epilepsy and 12 not affected by neurologic diseases). The results confirmed a more severe clinical picture, and epilepsy syndrome in particular, in Angelman's syndrome patients with deletions versus patients without deletions.

Pervasive developmental disorders and GABAergic system in patients with inverted duplicated chromosome 15.

Pervasive developmental disorders are characterized by severe, pervasive impairment in several areas of development, with distorted communication skills and stereotypical behavior. Pervasive developmental disorders have a heterogeneous etiology related to brain damage, familial affective psychopathology, chromosomal abnormalities, or dysfunction of neuromodulators. Recently, it has been suggested that the GABRB3 gene, located within chromosome 15q11-13, is a candidate for pervasive developmental disorder.

Relationship between clinical and genetic features in "inverted duplicated chromosome 15" patients.

Inverted duplicated chromosome 15 (Inv dup [15]) syndrome is a genetic disorder characterized by psychologic or intellectual language delay; neurologic signs, such as hypotonia, ataxia, and epilepsy; mental retardation ranging from mild to severe; and facial dysmorphisms. All patients present with a psychopathologic impairment that is highly variable in severity but always classifiable as pervasive developmental disorder (PDD). Many genetic mechanisms have been hypothesized to explain the clinical variability.

Depressive symptoms as measured by the CDI in a population of northern Italian children.

The aim of this study was to evaluate some Children's Depression Inventory (CDI) psychometric properties and the prevalence of depressive symptoms in an unselected Italian sample of two hundred and eighty-four children aged 8 years. The CDI internal consistency was adequate (Cronbach's alpha:.80).

Visual-spatial attention in developmental dyslexia.

Orienting and focusing of visual attention are two processes strictly involved in reading. They were studied in a group of dyslexic children and normal readers. Shifting of attention by both peripheral and central visual cues was studied by means of the covert orienting paradigm.

McArdle's disease. The unsolved mystery of the reappearing enzyme.

We assessed the frequency of muscle fibers showing histochemical phosphorylase activity in 27 muscle biopsies from 25 unrelated patients with McArdle's disease and studied by immunohistochemistry and in situ hybridization whether the muscle-specific isoform was expressed. Positive phosphorylase fibers were observed in 19% of our series of biopsies. We show that the enzyme isoform expressed in regenerating fibers differs according to the genotype of patients: the muscle-specific isoform is transcribed and translated in patients with none of the described mutations in at least one allele of the myophosphorylase gene, whereas it is neither transcribed nor translated in patients with identified mutations in both alleles.

The apolipoprotein E epsilon4 allele causes a faster decline of cognitive performances in Down's syndrome subjects.

The apolipoprotein E gene (APOE), located on human chromosome 19, has three common alleles (epsilon2, epsilon3, epsilon4) which encode for the three main isoforms indicated as E2, E3 and E4 respectively. Several findings indicate epsilon4 allele as an important risk factor in both sporadic and familial late-onset Alzheimer's disease (AD). Pathological changes similar to AD are seen in almost all patients with Down's syndrome (DS) aged over 35 (senile plaques, neurofibrillary tangles and neuronal loss); a proportion of these may subsequently develop dementia.