Case Report: A rare form of congenital erythrocytosis due to SLC30A10 biallelic variants-differential diagnosis and recommendation for biochemical and genetic screening.

Congenital erythrocytosis recognizes heterogeneous genetic basis and despite the use of NGS technologies, more than 50% of cases are still classified as idiopathic. Herein, we describe the case of a 3-year-old boy with a rare metabolic disorder due to SLC30A10 bi-allelic mutations and characterized by hypermanganesemia, congenital erythrocytosis and neurodegeneration, also known as hypermanganesemia with dystonia 1 (HMNDYT1). The patient was treated with iron supplementation and chelation therapy with CaNa2EDTA, resulting in a significative reduction of blood manganese levels and erythrocytosis indexes. Although it couldn't be excluded that the patient's developmental impairment was part of the phenotypic spectrum of the disease, after three months from starting treatment no characteristic extrapyramidal sign was detectable. Our findings suggest the importance of assessing serum manganese levels in patients with unexplained polycythemia and increased liver enzymes. Moreover, we highlight the importance of extended genetic testing as a powerful diagnostic tool to uncover rare genetic forms of congenital erythrocytosis. In the described patient, identifying the molecular cause of erythrocytosis has proven essential for proper clinical management and access to therapeutic options.

The Strengths and Difficulties Questionnaire as a Valuable Screening Tool for Identifying Core Symptoms and Behavioural and Emotional Problems in Children with Neuropsychiatric Disorders.

The Strengths and Difficulties Questionnaire (SDQ) is a worldwide questionnaire used for the early identification of behavioural/emotional symptoms in children and adolescents with neuropsychiatric disorders. Although its prognostic power has been studied, it has not yet been tested whether SDQ: (i) can identify pathognomonic symptoms across a variety of neurodevelopmental and neuropsychiatric disorders, (ii) can capture emotional and behavioural problems associated with the main diagnosis, as well as shared transdiagnostic dimensions, and (iii) can detect changes in symptomatology with age. The present study evaluated nearly 1000 children and adolescents overall with Global Developmental Delay (GDD), Intellectual Disability (ID), Language Disorder (LD), Specific Learning Disorder (SLD), Autism Spectrum Disorder (ASD), Attention Deficit/Hyperactivity Disorder (ADHD), Mood Disorder (MD), Anxiety Disorder (AD), and Eating Disorders (ED). We found that SDQ: (i) can identify the core symptoms in children with ASD, ADHD, MD, and AD via specific subscales; (ii) can capture the associated emotional and behavioural symptoms in children with LD, GDD, ID, SLD, and ED; and (iii) can detect changes in the symptomatology, especially for GDD, LD, ASD, ADHD, and AD. SDQ is also able to recognise the transdiagnostic dimensions across disorders. Our results underscore the potential of SDQ to specifically differentiate and identify behavioural/emotional profiles associated with clinical diagnosis.

"Spazio Huntington": Tracing the Early Motor, Cognitive and Behavioral Profiles of Kids with Proven Pediatric Huntington Disease and Expanded Mutations > 80 CAG Repeats.

The "Spazio Huntington-A Place for Children" program was launched in 2019. The aim was to contact at risk kids within Huntington disease (HD) families, to provide counseling to their parents and to start a prospective follow-up of kids suspicious to manifest pediatric HD (PHD). We met 25 at risk kids in two years, four of whom with PHD and highly expanded (HE) mutations beyond 80 CAG repeats. We rated motor, neuropsychological and behavioral changes in all PHD kids by the Unified HD Rating Scale (UHDRS)-total motor score (TMS) and additional measures of (1) cognitive level (Leiter International Performance Scale), (2) adaptive functioning (Adaptive Behavior Assessment Systems), (3) receptive language (Peabody Picture Vocabulary Test) and (4) behavioral abnormalities (Child Behavior Check List and Children's Yale-Brown Obsessive Compulsive Scale). All PHD kids showed a severe progression of neurological and psychiatric manifestations including motor, cognitive and behavioral changes. The magnetic resonance imaging contributed to confirm the suspicious clinical observation by highlighting very initial striatum abnormalities in PHD. Spazio Huntington is a program to prospectively study PHD, the most atypical face of HD, and may represent the basis to recruit PHD patients in future clinical trials.

Cognitive Assessment in GNAO1 Neurodevelopmental Disorder Using an Eye Tracking System.

GNAO1 gene mutations are associated with a neurodevelopmental disorder characterized by developmental delay, epilepsy, and movement disorder. Eye tracking and eye movement analysis are an intriguing method to assess cognitive and language function and, to the best of our knowledge, it has never been tested in a standardized way in GNAO1. GNAO1 children are usually wheelchair-bound and with numerous motor constrains, including dystonic movements and postures, heterotropia, and hypotonia, making the cognitive assessment arduous. These contribute to the burden and disability, with a high level of frustration of caregivers and patients. We have herein demonstrated that, through an eye tracking system, six GNAO1 patients evaluated showed variable degrees of communicative intent through intentionally directed gaze. Moreover, three of these were able to complete a cognitive evaluation, and showed normal fluid intelligence and lexical comprehension. In conclusion, in GNAO1-related disorders, the degree of cognitive development is underestimated; eye tracking technologies may help in overcome these boundaries.

Coping With Adolescents Affected by Anorexia Nervosa: The Role of Parental Personality Traits.

INTRODUCTION: Anorexia nervosa (AN) promotes psychological distress in caregivers who adopt different coping strategies. Dysfunctional caregiving styles exacerbate further distress in the patient promoting the maintenance of the illness. We aimed to assess the possible contribution of personality traits of caregivers to the adoption of different coping strategies to deal with the affected relative. METHODS: About 87 adolescents with AN were recruited. Their parents completed the Family Coping Questionnaire for Eating Disorders (FCQ-EDs) and the Temperament and Character Inventory-Revised (TCI-R). Differences between mothers and fathers were assessed through the independent sample t-test. Multivariate regression analyses were run to assess if personality traits, the occurrence of psychiatry conditions in the parents, the marital status, and the duration of the illness predicted parental coping strategies. RESULTS: The group of mothers showed higher levels of avoidance and seeking for information coping strategies than the sample of fathers. Lower illness duration predicted higher collusion with the illness in both parents. Harm avoidance, cooperativeness, and self-directedness positively predicted parental coercion, collusion, and seeking for information strategies with some differences between mothers and fathers. DISCUSSION: Illness duration and personality traits of parents affect the type of parental coping strategies developed to face AN in adolescents. These variables should be considered in the assessment of families of adolescents with AN and may be addressed to promote more fine-tuned clinical interventions for caregivers.

Acute Movement Disorders in Childhood.

Acute-onset movement disorders (MDs) are an increasingly recognized neurological emergency in both adults and children. The spectrum of possible causes is wide, and diagnostic work-up is challenging. In their acute presentation, MDs may represent the prominent symptom or an important diagnostic clue in a broader constellation of neurological and extraneurological signs. The diagnostic approach relies on the definition of the overall clinical syndrome and on the recognition of the prominent MD phenomenology. The recognition of the underlying disorder is crucial since many causes are treatable. In this review, we summarize common and uncommon causes of acute-onset movement disorders, focusing on clinical presentation and appropriate diagnostic investigations. Both acquired (immune-mediated, infectious, vascular, toxic, metabolic) and genetic disorders causing acute MDs are reviewed, in order to provide a useful clinician's guide to this expanding field of pediatric neurology.

Working memory, attention and planning abilities in NKX2.1-related chorea.

BACKGROUND: Although NKX 2.1 related chorea has been considered benign due to the favourable course of motor phenotype during life, the neurological condition is not limited to chorea, including non-motor symptoms in the developmental, cognitive and psychiatric domain. Aim of our study was to test working memory, attention and planning abilities of a cohort of NKX2.1 choreic patients compared to healthy controls. METHODS: patients and healthy controls were assessed for working memory (Visual Digit Span test), response inhibition and sustained attention (Cued Go/No-Go test), and spatial problem-solving and planning task (Tower of London test). For experimental protocol, we used a computer based tool for neuropsychological experiments, Inquisit 5.0 software (Millisecond Software®). Non-parametric tests were performed for statistical analysis. RESULTS: six patients and fifteen healthy paediatric controls were recruited. In the Digit Span test, both in forward and backward recall, patients showed statistically significant lower scores than controls. In the Cued Go/No-Go test as well as in the Tower of London, NKX 2.1 patients showed similar scores in the error rate and total score respectively, whereas in both tests they appeared to be slower than controls suggesting a poor performance in the execution of the tests. CONCLUSIONS: our findings demonstrate that patients with NKX2.1-related chorea show a selective impairment in working memory with increased latencies in both planning and attention. A developmental alteration of the cholinergic neurotransmission in the basal forebrain and the disruption of striatal networks could explain, at least in part, this neuropsychological profile.

Complete Genome Sequence of Escherichia coli ML35.

We report here the complete genome sequence of Escherichia coli strain ML35. We assembled PacBio reads into a single closed contig with 169× mean coverage and then polished this contig using Illumina MiSeq reads, yielding a 4,918,774-bp sequence with 50.8% GC content.