Carbamazepine-induced thrombocytopenic purpura in a child: Insights from a genomic analysis

To the Editor, Carbamazepine is an effective anticonvulsant and has a relatively low incidence of adverse effects, although it occasionally causes hema- tologic disorders. We herein describe a patient with carbamazepine- induced thrombocytopenic purpura that was investigated by pharma- cological, immunological and genomic assays

Short-Term Outcomes of an ESDM Intervention in Italian Children with Autism Spectrum Disorder following the COVID-19 Lockdown

The COVID-19 pandemic caused a temporary lockdown period in Italy, during which the delivery of in-person treatment for children with autism spectrum disorder (ASD) in public health services was discontinued. This occurrence represented a crucial challenge for both families and professionals. We assessed the short-term outcomes of a sample of 18 children who received an early intervention with the Early Start Denver Model (ESDM), delivered at low intensity over one year in the pre-pandemic period, after six months of interruption of in-presence treatment due to lockdown restrictions. Children who received the ESDM treatment maintained their gains in sociocommunicative skills and did not exhibit any developmental regression. Additionally, there was evidence of a decrease in the restrictive and repetitive behavior (RRB) domain. The parents, who were already familiar with the principles of the ESDM, only received telehealth support from therapists that aimed to sustain the gains already achieved. We believe that it is always helpful to support parents in their daily lives by implementing interactional and play skills with their children to integrate and consolidate the results obtained in the individual interventions conducted by experienced therapists

Case report: Preemptive intervention for an infant with early signs of autism spectrum disorder during the first year of life

Autism spectrum disorder (ASD) includes neurodevelopmental conditions traditionally considered to bring life long disabilities, severely impacting individuals and their families. Very early identification and intervention during the very first phases of life have shown to significantly diminish symptom severity and disability, and improve developmental trajectories. Here we report the case of a young child showing early behavioral signs of ASD during the first months of life, including diminished eye contact, reduced social reciprocity, repetitive movements. The child received a pre-emptive parent mediated intervention based on the Infant Start, an adaptation of the Early Start Denver Model (ESDM), specifically developed for children with ASD signs during the first year of life. The child here described received intervention from 6 to 32 months of age, in combination with educational services. Diagnostic evaluations performed at several time points (8, 14, 19, and 32 months) showed progressive improvements in his developmental level and ASD symptoms. Our case study supports the possibility of identifying ASD symptoms and providing services as soon as concerns emerge even during the first year of life. Our report, in combination with recent infant identification and intervention studies, suggests the need for very early screening and preemptive intervention to promote optimal outcomes

Feasibility and Outcomes of the Early Start Denver Model Delivered within the Public Health System of the Friuli Venezia Giulia Italian Region

The Early Start Denver Model (ESDM) is an evidence-based early intervention model for young children with autism spectrum disorder (ASD). It is crucial to investigate the feasibility of the ESDM in community settings in contexts that are culturally different from American universities in which the model was originally developed. The aim was to further evaluate the effectiveness of the ESDM delivered within the Italian community setting at low intensity. We compared a group aged 19 to 43 months receiving the ESDM for 2 h per week over the course of 1 year with a concurrent, comparable, non-randomized control group receiving treatment as usual (TAU). Children were evaluated at baseline (T0) and after 6 months (T1) and 12 months (T2) of intervention. Feasibility was evaluated by parent and therapist questionnaires, retention rate, and therapist treatment fidelity. Both groups made similar gains in cognition and language abilities. The ESDM group made larger improvement in domains measured by the ESDM Curriculum Checklist, including communication, social skills, and maladaptive behaviors. Feasibility seemed well supported by retentions, therapists and parent satisfaction, and treatment fidelity. Our study further supports the feasibility of the ESDM implemented within the Italian public health system and suggests a better response in the ESDM-treated group than in the control group

Feasibility and Outcomes of the Early Start Denver Model Delivered within the Public Health System of the Friuli Venezia Giulia Italian Region

The Early Start Denver Model (ESDM) is an evidence-based early intervention model for young children with autism spectrum disorder (ASD). It is crucial to investigate the feasibility of the ESDM in community settings in contexts that are culturally different from American universities in which the model was originally developed. The aim was to further evaluate the effectiveness of the ESDM delivered within the Italian community setting at low intensity. We compared a group aged 19 to 43 months receiving the ESDM for 2 h per week over the course of 1 year with a concurrent, comparable, non-randomized control group receiving treatment as usual (TAU). Children were evaluated at baseline (T0) and after 6 months (T1) and 12 months (T2) of intervention. Feasibility was evaluated by parent and therapist questionnaires, retention rate, and therapist treatment fidelity. Both groups made similar gains in cognition and language abilities. The ESDM group made larger improvement in domains measured by the ESDM Curriculum Checklist, including communication, social skills, and maladaptive behaviors. Feasibility seemed well supported by retentions, therapists and parent satisfaction, and treatment fidelity. Our study further supports the feasibility of the ESDM implemented within the Italian public health system and suggests a better response in the ESDM-treated group than in the control group

Effectiveness and feasibility of the Early Start Denver Model delivered within the Public Health System of the Friuli Venezia Giulia Italian Region

The aim of our study was twofold: 1. to further evaluate the effectiveness of the ESDM delivered in the Italian Public Health System at low intensity; 2. to further evaluate the feasibility of the ESDM delivered within the Italian community setting

Molecular cytogenetic characterization of 2p23.2p23.3 deletion in a child with developmental delay, hypotonia and cryptorchism

Deletions of the short arm of chromosome 2 are exceedingly rare and only nine cases involving regions from 2p23 to 2pter have been reported to date. Most of these deletions had only been analysed by GTG banding. Here, we report an interstitial de novo deletion resulting in a microdeletion of 3.9 Mb involving 2p23.2-p23.3 segment, detected by SNP-array analysis, in a 5 year-old boy showing hypotonia, over- weight, dysmorphic facial features and cryptorchidism. We compared the clinical features of the present case to previously described patients with deletions within this chromosomal region. Our case adds new information to the deletion of the distal part of chromosome 2p improving the knowledge on this rearrangement

A new case of duplication of the MDS region identified by high-density SNP arrays and a review of the literature

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A Two-Stage Screening Approach with I-TC and Q-CHAT to Identify Toddlers at Risk for Autism Spectrum Disorder within the Italian Public Health System

Standardized screening programs ensure that children are monitored for early signs of autism spectrum disorder (ASD) in order to promote earlier diagnosis and intervention. The aim of this study is to identify early signs of atypical development consistent with ASD or other developmental disorders in a population of 224 low-risk toddlers through a two-stage screening approach applied at 12 and 18 months of age. We adopted two screening tools combined: 1. the Communication and Symbolic Behavior Scales Developmental Profile (CSBS DP) Infant–Toddler Checklist (I-TC) and 2. The Quantitative Checklist for Autism in Toddlers (Q-CHAT). We assessed their sensitivity and specificity related to the diagnostic outcome at 36 months. The results showed that autistic signs can be detected as early as the first year even through a few questions extrapolated from both screeners and that our model could be used as a screening procedure in the Italian public health system

Acute pseudotumoral hemicerebellitis in a child: A rare and distinct entity?

A pseudotumoral presentation of acute hemicerebellitis is rare in pediatric age. The authors report a new single case study of a 7-year-old child with pseudotumoral unilateral cerebellitis mimicking an intracranial tumor, which clinically presented itself with signs of intracranial hypertension and mild contralateral hemiparesis, completely recovered after anti-inflammatory therapy. Brain magnetic resonance imaging (MRI) was essential for the differential diagnosis between inflammatory and neoplastic processes. The literature highlighting specific clues about pseudotumoral hemicerebellitis as a distinct clinical and radiological entity is reviewed