The phenotypic spectrum of epilepsy associated with periventricular nodular heterotopia.

Background: Periventricular nodular heterotopia (PVNH) is a congenital brain malformation often associated with seizures. We aimed to clarify the spectrum of epilepsy phenotypes in PVNH and the significance of specific brain malformation patterns.

Methods: In this retrospective cohort study, we recruited people with PVNH and a history of seizures, and collected data via medical record review and a standardized questionnaire.

Maternal mood moderates the trajectory of emotional and behavioural problems from pre- to during the COVID-19 lockdown in preschool children.

The COVID-19 outbreak and subsequent lockdown have dramatically impacted families' life, raising serious concerns about children's emotional wellbeing. However, few studies have investigated whether the impact of the COVID-19 lockdown on psychological adjustment in youngest can be moderated by maternal mood and, to our knowledge, none of them has adopted a longitudinal design. The main aim of the current study was to explore if the intensity and directionality of maternal mood symptoms moderated the trajectory of emotional and behavioural problems in Italian pre-schoolers from pre- to during the lockdown adopting a longitudinal design.

A multimodal approach to the study of children treated for posterior fossa tumor: A review of the literature and a pilot study.

Objective: The aims of the present study were: (1) to review the literature on long-lasting cognitive sequelae in children treated for Posterior Fossa Tumor and (2) to investigate anatomic functional relations in a case series of 7 children treated for PFT using magnetic resonance imaging (MRI) post-processing methods.

Methods: We retrospectively analyzed MRIs of children who underwent complete surgical resection of PFT and performed extensive neuropsychological evaluation. Tumor, ventricular volumes, and VPS insertion site were drawn on T1 volumetric MRI scans and normalized to a pediatric template.

White matter deficits correlate with visual motion perception impairments in dyslexic carriers of the DCDC2 genetic risk variant.

Motion perception deficits in dyslexia show a large intersubjective variability, partly reflecting genetic factors influencing brain architecture development. In previous work, we have demonstrated that dyslexic carriers of a mutation of the DCDC2 gene have a very strong impairment in motion perception. In the present study, we investigated structural white matter alterations associated with the poor motion perception in a cohort of twenty dyslexics with a subgroup carrying the DCDC2 gene deletion (DCDC2d+) and a subgroup without the risk variant (DCDC2d-).

The Fetus with Ganglionic Eminence Abnormality: Head Size and Extracranial Sonographic Findings Predict Genetic Diagnoses and Postnatal Outcomes.

Background And Purpose: Ganglionic eminence abnormalities on fetal MR imaging are associated with cerebral malformations. Their presumed genetic basis and associated postnatal outcomes remain largely unknown. We aimed to elucidate these through a multicenter study.

The generalizability of Older Adult Self-Report (OASR) syndromes of psychopathology across 20 societies.

Objectives: As the world population ages, psychiatrists will increasingly need instruments for measuring constructs of psychopathology that are generalizable to diverse elders. The study tested whether syndromes of co-occurring problems derived from self-ratings of psychopathology by US elders would fit self-ratings by elders in 19 other societies.

Methods/design: The Older Adult Self-Report (OASR) was completed by 12 826 adults who were 60 to 102 years old in 19 societies from North and South America, Asia, and Eastern, Northern, Southern, and Western Europe, plus the United States.

Neuropsychological Impairment in Children With Class 1 Congenital Heart Disease.

Children with congenital heart disease (CHD) are at increased risk of neuropsychological impairments, but few studies are available on the nonlinguistic neuropsychological abilities of children with CHD. We conducted neuropsychological evaluations using the NEPSY II on a cohort of 17 school-age Italian children with diagnoses of Class 1 CHD, no genetic or chromosomal abnormalities, and normal intelligence scores, and we compared them with 34 matched controls. Children with CHD in this study had undergone at least one cardiac surgery with cardiopulmonary bypass support.

Children sustaining a severe acquired brain lesion before age 3 years: a follow-up study at 1 year from insult.

Purpose: To describe the functional and cognitive outcome of acquired brain injury of different aetiologies in children before age 3 years, at initial hospitalization and at a 1-year follow-up, after a rehabilitation programme.

Method: Data were collected at 6 months and at 12 months from the event; cognitive data were collected as soon as possible at T1. The full sample was divided into three groups according to aetiology.

Mutations in the Neuroblastoma Amplified Sequence gene in a family affected by Acrofrontofacionasal Dysostosis type 1.

Acrofrontofacionasal Dysostosis type 1 (AFFND1) is an extremely rare, autosomal recessive syndrome, comprising facial and skeletal abnormalities, short stature and intellectual disability. We analyzed an Indian family with two affected siblings by exome sequencing and identified a novel homozygous truncating mutation in the Neuroblastoma-Amplified Sequence (NBAS) gene in the patients' genome. Mutations in the NBAS gene have recently been associated with different phenotypes mainly involving skeletal formation, liver and cognitive development.

Non-Verbal Cognitive Abilities in Children and Adolescents Affected by Migraine and Tension-Type Headache: An Observational Study Using the Leiter-3.

Headache is one of the most common neurological disorders in developmental age. Several studies investigated the relationship between headache and emotional/behavioral problems. We studied non-verbal cognitive abilities, including non-verbal memory and attention skills, in order to evaluate the impact of primary headache on these domains.

Refinement of the critical 7p22.1 deletion region: Haploinsufficiency of ACTB is the cause of the 7p22.1 microdeletion-related developmental disorders.

Non-recurrent microdeletion (≤2 Mb in size) in 7p22.1 is a rarely described cytogenetic aberration, only recently reported in patients with developmental delay/intellectual disability, short stature and microcephaly. The size of the deletions ranged from 0.

Feasibility and efficacy of an attachment-based intervention in a maltreatment sample in residential care: A pilot study.

The effects of the Video-feedback Intervention to promote Positive Parenting and Sensitive Discipline on improving maternal sensitivity and sensitive discipline were investigated using a randomized control design in a pilot sample of mothers at high risk of maltreatment. The study included 12 mothers and their 10- to 36-month-old children placed in parental residential care, due to a guardianship order issued by the Youth Court. Both at pretest and post-test, maternal sensitivity and sensitive discipline were assessed during mother-child interaction via observational measures.

High frequency oscillations after median nerve stimulations in healthy children and adolescents.

The aim of the present research was to address somatosensory high frequency oscillations (400-800Hz) in healthy children and adolescents in comparison with healthy adults. We recorded somatosensory evoked potentials following median nerve stimulation in nineteen resting healthy children/adolescents and in nineteen resting healthy adults with eyes closed. We administered six consecutive stimulation blocks (500 sweeps each).

Cortical hyper-excitability in healthy children: evidence from habituation and recovery cycle phenomena of somatosensory evoked potentials.

Aim: To compare neurophysiological parameters of central nervous system excitability in healthy children/adolescents with those of healthy adults.

Method: Two experimental protocols were used in 19 healthy children/adolescents (10 males and 9 females, mean age 9y 11mo [SD 2y 9mo], range 5-15y) and 19 healthy adults (8 males and 11 females, mean age 36y 6mo [SD 7y 9mo], range 27-51y). First, we administered repetitive trains of innocuous electrical stimulation of the median nerve and analysed habituation (progressive attenuation) of the cervical and cortical responses.

Altered Recruitment of the Attention Network Is Associated with Disability and Cognitive Impairment in Pediatric Patients with Acquired Brain Injury.

We assessed abnormalities of brain functional magnetic resonance imaging (fMRI) activity during a sustained attention task (Conners' Continuous Performance Test (CCPT)) in 20 right-handed pediatric acquired brain injury (ABI) patients versus 7 right-handed age-matched healthy controls, and we estimated the correlation of such abnormalities with clinical and cognitive deficits. Patients underwent the Wechsler Intelligence Scale for Children (WISC), Wisconsin Card Sorting Test, and Functional Independence Measure (FIM) evaluations. During fMRI, patients and controls activated regions of the attention network.

Neuropsychological assessment of children with epilepsy and average intelligence using NEPSY II.

Introduction: Many studies have shown altered neuropsychological functioning of children with epilepsy even in the absence of intellectual disability, with notable concerns for both patients and their families. Although studies have described the cognitive profiles associated with specific epilepsy syndromes, there is incomplete agreement on the relation between spared and impaired abilities in different cognitive domains and on how deficits in one neuropsychological ability can secondarily affect performance in other cognitive domains. The aim of this study was to investigate the neuropsychological profile and vulnerabilities of children with epilepsy without intellectual disability or borderline intellectual functioning.

Polysomnographic Sleep Patterns in Children and Adolescents in Unresponsive Wakefulness Syndrome.

Objectives: We aimed (i) to search for qualitative sleep patterns for pediatric unresponsive wakefulness syndrome (SPPUWS) in prolonged polysomnographic (PSG) recordings in children and adolescents with subacute severe disorders of consciousness due to an acquired brain damage; (ii) to investigate the clinical relevance of SPPUWS and of possible neurophysiological markers (rapid eye movement sleep and sleep spindles) in PSG recordings of pediatric patients with unresponsive wakefulness syndrome (UWS).

Methods: We performed a PSG study in 27 children with UWS due to acquired brain damage in the subacute phase. Patients received a full neurological examination and a clinical assessment with standardized scales.

Phenotypic and genetic associations between reading comprehension, decoding skills, and ADHD dimensions: evidence from two population-based studies.

Background: The phenotypic and genetic associations between decoding skills and ADHD dimensions have been documented but less is known about the association with reading comprehension. The aim of the study is to document the phenotypic and genetic associations between reading comprehension and ADHD dimensions of inattention and hyperactivity/impulsivity in early schooling and compare them to those with decoding skills.

Methods: Data were collected in two population-based samples of twins (Quebec Newborn Twin Study - QNTS) and singletons (Quebec Longitudinal Study of Child Development - QLSCD) totaling ≈ 2300 children.

GRIN2B mediates susceptibility to intelligence quotient and cognitive impairments in developmental dyslexia.

Objective(s): Developmental dyslexia (DD) is a complex heritable condition associated with impairments in multiple neurocognitive domains. Substantial heritability has been reported for DD and related phenotypes, and candidate genes have been identified. Recently, a candidate gene for human cognitive processes, that is, GRIN2B, has been found to be associated significantly with working memory in a German DD sample.

Testis development in the absence of SRY: chromosomal rearrangements at SOX9 and SOX3.

Duplications in the ~2 Mb desert region upstream of SOX9 at 17q24.3 may result in familial 46,XX disorders of sex development (DSD) without any effects on the XY background. A balanced translocation with its breakpoint falling within the same region has also been described in one XX DSD subject.