Parents' and Teachers' Perspectives of Autism and Co-Morbidity Symptom Severity in Young Children with ASD Over One School Year.

Purpose: Only a few studies examined the longitudinal pattern of parent-teacher reports on autism severity and comorbidities in autism spectrum disorder (ASD) and yielded conflicting results. The study's aims were to compare parents and teachers' perception of autism, attention deficit hyperactivity disorder (ADHD) and anxiety symptoms severity in children with ASD, at the start (T1) and end (T2) of the school year, to assess changes in their perception over time and to examine correlations between their reports.

Methods: The study included 73 participants, (M = 61), aged 2:10 - 7:6 years (M = 4:10, SD = 1:0), who attended ASD special education classes and were receiving intensive interventions.

Relationship between Parental Concerns about Social-Emotional Reciprocity Deficits and Their Children's Final ASD Diagnosis.

Concerns raised by parents regarding their child's development are compatible with the child's final diagnosis of autism spectrum disorder. A better understanding of the relationship between parental concerns and a final diagnosis of autism spectrum disorder is therefore critical. In the current study, we compared the frequencies of parental concerns related to DSM-5 criteria for autism spectrum disorder between pair-matched groups with and without a final diagnosis of autism spectrum disorder and determined which parental concerns predicted a final diagnosis of autism spectrum disorder.

Implementation of fetal clinical exome sequencing: Comparing prospective and retrospective cohorts.

Purpose: We compared the diagnostic yield of fetal clinical exome sequencing (fCES) in prospective and retrospective cohorts of pregnancies presenting with anomalies detected using ultrasound. We evaluated factors that led to a higher diagnostic efficiency, such as phenotypic category, clinical characterization, and variant analysis strategy.

Methods: fCES was performed for 303 fetuses (183 ongoing and 120 ended pregnancies, in which chromosomal abnormalities had been excluded) using a trio/duo-based approach and a multistep variant analysis strategy.

A New Phylogenomic Approach For Quantifying Horizontal Gene Transfer Trends in Prokaryotes.

It is well established nowadays that among prokaryotes, various families of orthologous genes exhibit conflicting evolutionary history. A prime factor for this conflict is horizontal gene transfer (HGT) - the transfer of genetic material not via vertical descent. Thus, the prevalence of HGT is challenging the meaningfulness of the classical Tree of Life concept.

Correction to: European Society of Paediatric Radiology abdominal imaging task force: statement on imaging in very early onset inflammatory bowel disease.

The above article was published online with incorrect author name. The right spelling should be Damjana Kljucevsek instead of Damjana Kjucevsek. The correct name is presented here.

European Society of Paediatric Radiology abdominal imaging task force: statement on imaging in very early onset inflammatory bowel disease.

Very early onset inflammatory bowel disease (VEO-IBD) is defined as disease presenting before the age of 6. These children require a tailored imaging approach because conventional imaging studies can be difficult to perform at such a young age. Unlike inflammatory bowel disease in older children and adults, colonic disease predominates in VEO-IBD, and small-bowel disease is rare.

The Presence of Comorbid ADHD and Anxiety Symptoms in Autism Spectrum Disorder: Clinical Presentation and Predictors.

High rates of attention deficit/hyperactivity disorder (ADHD) and anxiety symptoms have been documented in autism spectrum disorder (ASD), and have been associated with social and adaptive impairments. The study examined the frequency of clinically elevated ADHD and anxiety symptoms in an ASD group in comparison to a non-clinical group, compared the clinical presentation in the ASD group with and without ADHD and anxiety, assessed which child and familial variables add to the severity of Inattention, Hyperactivity/Impulsivity (HI), and anxiety symptoms, and evaluated whether having clinically elevated ADHD and/or anxiety symptoms adds to the prediction of adaptive functioning in ASD. The study included 260 participants diagnosed with ASD (mean age: 7.

Imaging of Kidney Cysts and Cystic Kidney Diseases in Children: An International Working Group Consensus Statement.

Kidney cysts can manifest as focal disease (simple and complex kidney cysts), affect a whole kidney (eg, multicystic dysplastic kidney or cystic dysplasia), or manifest as bilateral cystic disease (eg, autosomal recessive polycystic kidney disease [ARPKD] or autosomal dominant polycystic kidney disease [ADPKD]). In children, as opposed to adults, a larger proportion of kidney cysts are due to genetic diseases (eg, HNF1B nephropathy, various ciliopathies, and tuberous sclerosis complex), and fewer patients have simple cysts or acquired cystic kidney disease. The purpose of this consensus statement is to provide clinical guidance on standardization of imaging tests to evaluate kidney cysts in children.

A New Quartet-Based Statistical Method for Comparing Sets of Gene Trees Is Developed Using a Generalized Hoeffding Inequality.

Extracting the strength of the tree signal that is encompassed by a collection of gene trees is an exceptionally challenging problem in phylogenomics. Often, this problem not only involves the construction of individual phylogenies based on different genes, which may be a difficult endeavor on its own, but is also exacerbated by many factors that create conflicts between the evolutionary histories of different gene families, such as duplications or losses of genes; hybridization events; incomplete lineage sorting; and horizontal gene transfer, the latter two play central roles in the evolution of eukaryotes and prokaryotes, respectively. In this work, we tackle the aforementioned problem by focusing on quartet trees, which are the most basic unit of information in the context of unrooted phylogenies.

A phylogenomic study quantifies competing mechanisms for pseudogenization in prokaryotes-The Mycobacterium leprae case.

Background: Pseudogenes are non-functional sequences in the genome with homologous sequences that are functional (i.e. genes).

Reconstruction of real and simulated phylogenies based on quartet plurality inference.

Background: Deciphering the history of life on Earth has long been regarded as one of the most central tasks in biology. In past years, widespread discordance between the evolutionary histories of different groups of orthologous genes of prokaryotes have been revealed, primarily due to horizontal gene transfers (HGTs). Nonetheless, evidence that support a strong tree-like signal of evolution have been uncovered, despite the presence of HGT events.

Postmortem fetal magnetic resonance imaging: where do we stand?

Unlabelled: Postmortem fetal magnetic resonance imaging (PMFMRI) is increasingly used thanks to its good overall concordance with histology paralleling the rising incidence of parental refusal of autopsy. The technique could become a routine clinical examination but it needs to be standardized and conducted by trained radiologists. Such radiologists should be aware of not only the (congenital and acquired) anomalies that can involve the fetus, but also of the "physiological" postmortem changes.

The Performance of Two Supertree Schemes Compared Using Synthetic and Real Data Quartet Input.

Despite impressive advancements in technological and theoretical tools, construction of phylogenetic (evolutionary) trees is still a challenging task. The availability of enormous quantities of molecular data has made large-scale phylogenetic reconstruction involving thousands of species, a more viable goal. For this goal, separate trees over different, overlapping subsets of species, representing histories of various markers of these species, are collected.

Toxic genes present a unique phylogenetic signature.

Horizontal gene transfer (HGT) is a major part of the evolution of Archaea and Bacteria, to the extent that the validity of the Tree of Life concept for prokaryotes has been seriously questioned. The patterns and routes of HGT remain a subject of intense study and debate. It was discovered that while several genes exhibit rampant HGT across the whole prokaryotic tree of life, others are lethal to certain organisms and therefore cannot be successfully transferred to them.

Weighted quartets phylogenetics.

Despite impressive technical and theoretical developments, reconstruction of phylogenetic trees for enormous quantities of molecular data is still a challenging task. A key tool in analyses of large data sets has been the construction of separate trees for subsets (e.g.

Atypical presentation of a Langerhan's cell histiocytosis of the forearm in a child.

We report a case of a 2-year-old child presenting with right forearm pain. Based on imaging analysis, the initial diagnosis was osteomyelitis but the final diagnosis demonstrated by histology was Eosinophilic Granuloma (EG) of the forearm. We detail the rare radiological presentation of such a lesion, the various clinical presentations and the work-up advised in this context.

Update on congenital nephrotic syndromes and the contribution of US.

The clinical classification of nephrotic syndrome (NS) is based on age at presentation. However, this classification is arbitrary because the majority of early onset NS has a genetic origin and has a widespread age of onset (from fetal life to several years). The aims of this review are to illustrate the knowledge accumulated on congenital nephrotic syndrome (CNS) in terms of genetics, classification, findings at histology and US-based on a review of the literature.

Differential diagnosis of fetal hyperechogenic cystic kidneys unrelated to renal tract anomalies: A multicenter study.

Objectives: To identify important factors in the differential diagnosis of renal cysts associated with hyperechogenic kidneys.

Methods: This was a retrospective multicenter study. We identified 93 fetuses presenting between 1990 and 2002 with hyperechogenic kidneys and which had a diagnosis of nephropathy confirmed later.

Meckel-Grüber syndrome: sonography and pathology.

Objective: To define a specific sonographic pattern for the appearance of the kidneys in fetuses affected by Meckel-Grüber syndrome (MGS).

Methods: This was a retrospective analysis of 30 cases, collected from five centers, with ultrasound features suggestive of MGS. Only fetuses with a confirmed diagnosis of MGS were finally included.

Sonographic imaging of the paediatric female pelvis.

Several conditions necessitate a pelvic ultrasound in their management. In this paper, we will first review the embryology of the female genital system and the normal morphology of the uterus and ovaries from birth to puberty. Thereafter, this paper aims to categorise pelvic pathologies based on their clinical presentations.

Type 1 primary hyperoxaluria in pediatric patients: renal sonographic patterns.

Objective: Our aim was to review the sonographic features of type I primary hyperoxaluria in children and to correlate the sonographic patterns with the clinical development of end-stage renal disease (ESRD).

Materials And Methods: We performed a retrospective analysis of the clinical and imaging files of 13 patients with type I primary hyperoxaluria who were treated in one institution and of the sonographic patterns and the clinical follow-up reports.

Results: We encountered the following two sonographic patterns: medullary nephrocalcinosis in eight patients and cortical nephrocalcinosis in five patients.

Prenatal sonographic patterns in autosomal dominant polycystic kidney disease: a multicenter study.

Objective: To determine whether a specific prenatal sonographic pattern can be identified for autosomal dominant polycystic kidney disease (ADPKD) and if so whether it would be helpful in orienting complementary analysis, properly counseling parents and adapting pregnancy management.

Methods: A retrospective multicenter study was conducted in four prenatal diagnostic centers. The records of fetuses with a prenatal ultrasound examination revealing abnormal kidneys and with a final diagnosis of ADPKD were analyzed.

Antenatal renal sonographic anomalies and postnatal follow-up of renal involvement in Bardet-Biedl syndrome.

Objectives: To describe an antenatal sonographic renal pattern encountered in Bardet-Biedl syndrome, a rare autosomal recessive disorder whose definitive diagnosis is often delayed, and to describe the evolution of the sonographic appearance of the kidneys after birth.

Methods: Among a large group of fetuses with hyperechoic kidneys, we retrospectively analyzed the prenatal sonographic findings and clinical and postnatal renal sonographic evolution of 11 patients who were found to be affected by Bardet-Biedl syndrome.

Results: All 11 fetuses presented enlarged homogeneously hyperechoic kidneys without corticomedullary differentiation.

[Diagnostic imaging in non-accidental brain injuries].

Diagnosis of nonaccidental injury (child abuse) may be difficult because most infants present with non-specific clinical findings and without external signs of trauma. Brain lesions severely disproportionate to the history of trauma, retinal hemorrhages and characteristic fractures or fractures of varying age are key indicators to child abuse when encountered in an infant. It is therefore incumbent upon the radiologist to recognize the radiologic findings of the various forms of nonaccidental injury and to correlate them with the physical findings in order to render a more accurate opinion.

MR urography in children.

Thanks to the development of rapid sequences with better resolution, applications of uro MR have rapidly increased in children. Difficulties that remain are related to the variable ages of the patients. It is therefore mandatory to standardize as much as possible the techniques that are used in order to obtain reproducible results.