Predictive factors of reading in children with developmental language disorder.

The current study aimed to fill the gap in research on factors predictive of word reading in French-speaking children with developmental language disorder (DLD) by finding out whether the same predictors of written word recognition evidenced in typically developing children would be retrieved in children with DLD or if some predictors could be specific to children with DLD, especially in the phonological domain. In total, 38 children with DLD and 44 control children were followed from 6 to 8 years in a longitudinal design including two time points: (1) just before explicit reading instruction, where potential predictors of reading were assessed (oral language skills and reading-related skills), and (2) after 2 years of learning to read, where isolated word reading and text reading were assessed in addition to the assessment of oral language skills and reading-related skills. The study mainly showed that the predictors of reading identified in typically developing children are retrieved in children with DLD except for phonemic awareness; the latter result was probably explained by a floor effect.

Cerebral dural arteriovenous fistulas in patients with PTEN-related hamartoma tumor syndrome.

Central nervous system (CNS) dural arteriovenous fistulas (DAVF) have been reported in PTEN-related hamartoma tumor syndrome (PHTS). However, PHTS-associated DAVF remain an underexplored field of the PHTS clinical landscape. Here, we studied cases with a PTEN pathogenic variant identified between 2007 and 2020 in our laboratory (n = 58), and for whom brain imaging was available.

Differentiating Genetic Forms of Pontocerebellar Hypoplasia From Acquired Lesions Resembling Pontocerebellar Hypoplasia: Clinical, Neurodevelopmental, and Imaging Insight From 19 Extremely Premature Patients.

It is well established that extreme prematurity can be associated with cerebellar lesions potentially affecting the neurologic prognosis. One of the commonly observed lesions in these cases is pontocerebellar hypoplasia resulting from prematurity, which can pose challenges in distinguishing it from genetically caused pontocerebellar hypoplasia. This confusion leads to unacceptable and prolonged diagnostic ambiguity for families as well as difficulties in genetic counseling.

Remote template effect in the synthesis of bipyridine-strapped porphyrins.

A bipyridine-strapped porphyrin was prepared using a remote template effect of alkali or transition metal cations in the bipyridine subunit to enhance the yield 10-fold. The flexibility of the bipyridine-strap also allowed the synthesis of a doubly strapped porphyrin.

Paroxysmal Tonic Upgaze in a Patient With Congenital Ataxia due to a De Novo Missense Variant of CACNA1G.

Background: Paroxysmal tonic upgaze (PTU), defined as an involuntary upward movement of the eyes, has been considered as a benign phenomenon but may also be associated with ataxia and developmental delay. To date, CACNA1G mutations have been reported in autosomal dominant spinocerebellar ataxia designated SCA42 and in early encephalopathies with cerebellar atrophy but never in periodic childhood manifestations of PTU type.

Methods And Results: We report the case of a two-month-old infant with a de novo pathogenic variation of CACNA1G who presented with PTU associated with congenital ataxia and other periodic neurological manifestations.

Corrigendum: Musical abilities in children with developmental cerebellar anomalies.

[This corrects the article DOI: 10.3389/fnsys.2022.

New insights into -related Joubert syndrome.

Purpose: In this study, we describe the phenotype and genotype of the largest cohort of patients with Joubert syndrome (JS) carrying pathogenic variants on one of the most frequent causative genes, .

Methods: We selected 53 patients with pathogenic variants on , compiled and analysed their clinical, neuroimaging and genetic information and compared it to previous literature.

Results: Developmental delay (motor and language) was nearly constant but patients had normal intellectual efficiency in 74% of cases (20/27 patients) and 68% followed mainstream schooling despite learning difficulties.

A PMM2-CDG caused by an A108V mutation associated with a heterozygous 70 kilobases deletion case report.

Background: Congenital Disorders of Glycosylation (CDG) are a large group of inborn errors of metabolism with more than 140 different CDG types reported to date (1). The first characterized, PMM2-CDG, with an autosomal recessive transmission, is also the most frequent. The PMM2 gene encodes a phosphomannomutase.

Musical abilities in children with developmental cerebellar anomalies.

Developmental Cerebellar Anomalies (DCA) are rare diseases (e.g., Joubert syndrome) that affect various motor and non-motor functions during childhood.

Dance Improves Motor, Cognitive, and Social Skills in Children With Developmental Cerebellar Anomalies.

In this multiple single-cases study, we used dance to train sensorimotor synchronization (SMS), motor, and cognitive functions in children with developmental cerebellar anomalies (DCA). DCA are rare dysfunctions of the cerebellum that affect motor and cognitive skills. The cerebellum plays an important role in temporal cognition, including SMS, which is critical for motor and cognitive development.

CACNA1A-associated epilepsy: Electroclinical findings and treatment response on seizures in 18 patients.

CACNA1A pathogenic mutations are involved in various neurological phenotypes including episodic ataxia (EA2), spinocerebellar ataxia (SCA6), and familial hemiplegic migraine (FHM1). Epilepsy is poorly documented. We studied 18 patients (10 males) carrying de novo or inherited CACNA1A mutations, with median age of 2,5 years at epilepsy onset.

Biometry of the Cerebellar Vermis and Brain Stem in Children: MR Imaging Reference Data from Measurements in 718 Children.

Background And Purpose: Objective and quantitative data to define cerebellar vermis and/or brain stem hypoplasia in children are lacking. Our aim was to provide MR imaging biometric references for the cerebellar vermis and brain stem from a large cohort of children with normal cerebellums.

Materials And Methods: The MR imaging data were retrospectively selected from our hospital data base from January 1, 2014, to December 31, 2017.

Relapsing encephalopathy with cerebellar ataxia are caused by variants involving p.Arg756 in ATP1A3.

Mutations in ATP1A3 lead to different phenotypes having in common acute neurological decompensation episodes triggered by a specific circumstance and followed by sequelae. Alongside Alternating Hemiplegia of Childhood (AHC), Rapid-onset Dystonia Parkinsonism (RDP) and Cerebellar ataxia, Areflexia, Pes cavus, Optic atrophy, Sensorineural hearing loss syndrome (CAPOS), a new Relapsing Encephalopathy with Cerebellar Ataxia (RECA) phenotype was published in 2015. We describe herein eight new pediatric cases.

Expanding the phenotype of SCA19/22: Parkinsonism, cognitive impairment and epilepsy.

Introduction: Spinocerebellar ataxia types 19 and 22 (SCA19/22) are rare conditions in which relatively isolated cerebellar involvement is frequently associated with cognitive impairment. Here, we report on new clinical features and provide details of the cognitive profile in two SCA19/22 families.

Methods: Two families displaying an autosomal-dominant form of cerebellar ataxia underwent clinical examinations and genetic testing.

Epilepsy in young Tsc1(+/-) mice exhibits age-dependent expression that mimics that of human tuberous sclerosis complex.

Objective: To describe the epileptic phenotype of Tsc1(+/-) mice pups in comparison with age-related seizures in human tuberous sclerosis complex (TSC).

Methods: Tsc1(+/-) and control mice underwent intracranial electroencephalography (EEG) recording at postnatal ages (P)8 to P33, with linear silicon probe implanted in the somatosensory cortex of one or both hemispheres for 8-24 h. Ictal events were classified visually by independent analyzers; distinct EEG patterns were related to age and analyzed to quantify field potential characteristics and signal dynamics between hemispheres.

The consequences of physical post-treatments (microwave and electron-beam) on food/packaging interactions: A physicochemical and toxicological approach.

The safety of microwave and electron-beam treatments has been demonstrated, in regards to the formation of reaction products that could endanger human health. An integrated approach was used combining the potential toxicity of all the substances likely to migrate to their chemical characterizations. This approach was applied to polypropylene (PP) films prepared with a selection of additives.

Epileptic patients with de novo STXBP1 mutations: Key clinical features based on 24 cases.

Objective: Mutations in the syntaxin binding protein 1 gene (STXBP1) have been associated mostly with early onset epileptic encephalopathies (EOEEs) and Ohtahara syndrome, with a mutation detection rate of approximately 10%, depending on the criteria of selection of patients. The aim of this study was to retrospectively describe clinical and electroencephalography (EEG) features associated with STXBP1-related epilepsies to orient molecular screening.

Methods: We screened STXBP1 in a cohort of 284 patients with epilepsy associated with a developmental delay/intellectual disability and brain magnetic resonance imaging (MRI) without any obvious structural abnormality.

Renal involvement in tuberous sclerosis complex with emphasis on cystic lesions.

Introduction: Tuberous sclerosis complex (TSC) involves frequently the kidneys. Lesions encompass mainly angiomyolipoma and cysts. The disease can be associated with autosomal dominant polycystic kidney disease leading to the contiguous gene syndrome (CGS) The objectives of the present study were to review the US appearances of the renal involvement in children affected by classical TSC or by the CGS and to verify whether it is possible to differentiate between both entities.

[Lemierre syndrome revealed by torticollis].

Classical Lemierre syndrome is a rare and severe disease with thrombosis of the internal jugular vein and metastatic infections. We report on a case of Lemierre-like syndrome secondary to mastoiditis, with a favorable outcome, in a healthy infant presenting with torticollis. Early diagnosis and treatment with antibiotics are necessary to decrease mortality.

Use of ESR and HPLC to follow the anaerobic reaction catalysed by lipoxygenases.

The measurement of the 4-hydroxy-2,2,6,6-tetramethylpiperidine-1-oxyl (TEMPOL) consumption by using ESR allows to follow the anaerobic reaction between linoleic acid (LH) and its 13-hydroperoxide (LOOH) catalysed by lipoxygenase. During this reaction, two types of radicals are initially obtained, alkyl (L) and alkoxyl (LO) radicals which formed two types of adducts (LT and OLT) with TEMPOL as characterised by HPLC. The stoichiometry of the adduct formation is two mole of TEMPOL consumed for one mole of LH and one mole of LOOH.