Double-Outlet Left Ventricle: Case Series and Systematic Review of the Literature.

Double-outlet left ventricle (DOLV) is an abnormal ventriculo-arterial connection characterized by the origin of both great arteries from the morphological left ventricle. The aim of our paper is to describe the morphological and imaging features of DOLV and to assess the prevalence of the associated malformations and their surgical outcomes. METHODS From 2011 to 2022, we retrospectively reviewed the electronic case records of patients diagnosed with DOLV at the Bambino Gesu Children's Hospital. A systematic search was developed in MEDLINE, Web of Science, and EMBASE databases to identify reports assessing the morphology and outcomes of DOLV between 1975 and 2023. RESULTS: Over a median follow-up of 9.9 years (IQR 7.8-11.7 y), four cases of DOLV were identified at our institution. Two patients were diagnosed with (S,D,D) DOLV subaortic VSD and pulmonary stenosis (PS): one patient had (S,D,D) DOLV with doubly committed VSD and hypoplastic right ventricle, and another patient had (S,D,L) DOLV with subaortic VSD and PS (malposition type). Pulmonary stenosis was the most commonly associated lesion (75%). LITERATURE REVIEW: After systematic evaluation, a total of 12 reports fulfilled the eligibility criteria and were included in our analysis. PS or right ventricular outflow tract obstruction was the most commonly associated lesion (69%, 95% CI 62-76%). The most common locations of VSD were subaortic (pooled prevalence: 75%, 95% CI 68-81), subpulmonary (15%, 95% CI 10-21), and doubly committed (7%, 95% CI 4-12). The position of the great arteries showed that d-transposition of the aorta was present in 128 cases (59% 95% CI 42-74), and l-transposition was present in 77 cases (35%, 95% CI 29-43).

Peripheral Nervous System Involvement in Non-Primary Pediatric Cancer: From Neurotoxicity to Possible Etiologies.

Peripheral neuropathy is a well described complication in children with cancer. Oncologists are generally well aware of the toxicity of the main agents, but fear the side effects of new drugs. As chemotherapeutic agents have been correlated with the activation of the immune system such as in Chemotherapy Induced Peripheral Neuropathy (CIPN), an abnormal response can lead to Autoimmune Peripheral Neuropathy (APN). Although less frequent but more severe, Radiation Induced Peripheral Neuropathy may be related to irreversible peripheral nervous system (PNS). Pediatric cancer patients also have a higher risk of entering a Pediatric Intensive Care Unit for complications related to therapy and disease. Injury to peripheral nerves is cumulative, and frequently, the additional stress of a malignancy and its therapy can unmask a subclinical neuropathy. Emerging risk factors for CIPN include treatment factors such as dose, duration and concurrent medication along with patient factors, namely age and inherited susceptibilities. The recent identification of individual genetic variations has advanced the understanding of physiopathological mechanisms and may direct future treatment approaches. More research is needed on pharmacological agents for the prevention or treatment of the condition as well as rehabilitation interventions, in order to allow for the simultaneous delivery of optimal cancer therapy and the mitigation of toxicity associated with pain and functional impairment. The aim of this paper is to review literature data regarding PNS complications in non-primary pediatric cancer.

Understanding Novel Metaphors: A Milestone in the Developmental Trajectory of Children with Agenesis of the Corpus Callosum?

This study explores novel metaphor comprehension in a 7.2-year-old child (conventionally called RJ) with complete and isolated agenesis of the corpus callosum (ACC). RJ's cognitive level was adequate for his age as well as most of his linguistic competencies. The child's performance was compared to typically developing (TD) controls on a test assessing novel metaphor comprehension for preschoolers. RJ's performance showed a delay of about three years in relation to the expected level for his age, and also a significant gap compared to the TDs. The results highlighted the possibility to detect weaknesses in understanding novel metaphors in children with ACC, in spite of their apparently adequate linguistic capabilities. An early detection of a weakness in this area can pave the way to neurolinguistic treatment in order to enhance the understanding of nonliteral meaning, which, in the developmental trajectory, will be increasingly involved in everyday life communication. Future research should explore more in-depth a capability that intrinsically requires high interconnectivity, such as novel metaphor comprehension, in a brain in development where the major tract connecting the two hemispheres is missing.

Case Report: Theory of Mind and Figurative Language in a Child With Agenesis of the Corpus Callosum.

In this case report, we studied Theory of Mind (ToM) and figurative language comprehension in a 7.2-year-old child, conventionally named RJ, with isolated and complete agenesis of the corpus callosum (ACC), a rare malformation due to the absence of the corpus callosum, the major tract connecting the two brain hemispheres. To study ToM, which is the capability to infer the other's mental states, we used the classical false belief tasks, and to study figurative language, i.e., those linguistic usages involving non-literal meanings, we used tasks assessing metaphor and idiom comprehension. RJ's intellectual level and his phonological, lexical, and grammatical abilities were all adequate. In both the ToM false belief tasks and novel sensory metaphor comprehension, RJ showed a delay of 3 years and a significant gap compared to a typically developing control group, while in idioms, his performance was at the border of average. These outcomes suggest that RJ has a specific pragmatic difficulty in all tasks where he must interpret the other's communicative intention, as in ToM tasks and novel sensory metaphor comprehension. The outcomes also open up interesting insights into the relationships between ToM and figurative language in children with isolated and complete ACC.

High-level language competencies and Theory of Mind in a group of children with Klinefelter syndrome.

Klinefelter syndrome (KS) is a genetic anomaly involving the presence of one or more supernumerary X chromosomes in male individuals. In the cognitive profile of these individuals, strengths are found in nonverbal abilities, whereas weaknesses are observed in executive function, language, and academic performance. Our study is based on a comparison between eight children diagnosed with KS (47,XXY) (age range: 9-13 years; IQ range: 80-123), with no delay in language development, and eight typically developing (TD) controls. We explored a range of high-level language competencies and Theory of Mind (ToM) in addition to basic language competency. High-level language competencies were assessed by a battery that measures pragmatic language skills and a metaphor comprehension test (MCT). To assess ToM, we administered the corresponding subtest of the NEPSY II. Basic language competence was assessed by the NEPSY II Comprehension of Instructions subtest. Although basic language performance did not differentiate the individuals with KS from the TD controls, relevant differences appeared in some of the high-level language competencies as well as in the ToM task. All tasks in which the individuals with KS performed less well were characterized by complex inferential processes. Some possible clinical and educational implications are discussed.