Early Diagnosis of Children and Adolescence Suffering from Neurodevelopmental and Mental Disorders

A special issue of Children (ISSN 2227-9067). This special issue belongs to the section "Pediatric Neurology & Neurodevelopmental Disorders".

Deadline for manuscript submissions: closed (25 August 2023) | Viewed by 3966

Special Issue Editor


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Guest Editor
Clinic of Child and Adolescent Neuropsychiatry, Department of Medicine and Surgery, University of Salerno, Salerno, Italy
Interests: pediatric epilepsy; AEDs; cognitive profile; cognitive disability; genetic epilepsy

Special Issue Information

Dear Colleagues,

In the last few decades, there has been a growing interest in Autism Spectrum Disorder (ASD) and an improvement in screening and diagnostic practices for this disorder. The early diagnosis of children with ASD remains a challenge, especially for those with low-level symptoms, so a careful differential diagnosis with other disorders that could lead to similar atypias, such as speech disorders or intellectual disabilities, is necessary.

One of the most used standardized tests for the evaluation of ASD is ADOS-2, which facilitates early evaluation from 12 months through the Toddler Module. This provides a risk range for ASD disorder, which could be later confirmed by administering other modules of this test.

Various studies have investigated the early signs of ASD and the most reliable tools that help in diagnosis, but it would be interesting to verify on a large sample whether there is a correlation between high scores of specific items of the ADOS-2 Module Toddler and the subsequent confirmation of ASD and the severity of the disorder. Therefore, the aim of this Special Issue is to verify whether there are more significant indicators in this module for the purpose of early reliable diagnosis.

Dr. Francesca Felicia Operto
Guest Editor

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Keywords

  • neurodevelopment
  • developmental disorders
  • autism spectrum disorders
  • early identification
  • diagnostic accuracy
  • children at risk

Published Papers (3 papers)

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29 pages, 7034 KiB  
Article
Natural Course of IQSEC2-Related Encephalopathy: An Italian National Structured Survey
by Silvia Leoncini, Lidia Boasiako, Diego Lopergolo, Maria Altamura, Caterina Fazzi, Roberto Canitano, Salvatore Grosso, Ilaria Meloni, Margherita Baldassarri, Susanna Croci, Alessandra Renieri, Mario Mastrangelo and Claudio De Felice
Children 2023, 10(9), 1442; https://doi.org/10.3390/children10091442 - 24 Aug 2023
Cited by 1 | Viewed by 1486
Abstract
Pathogenic loss-of-function variants in the IQ motif and SEC7 domain containing protein 2 (IQSEC2) gene cause intellectual disability with Rett syndrome (RTT)-like features. The aim of this study was to obtain systematic information on the natural history and extra-central nervous system [...] Read more.
Pathogenic loss-of-function variants in the IQ motif and SEC7 domain containing protein 2 (IQSEC2) gene cause intellectual disability with Rett syndrome (RTT)-like features. The aim of this study was to obtain systematic information on the natural history and extra-central nervous system (CNS) manifestations for the Italian IQSEC2 population (>90%) by using structured family interviews and semi-quantitative questionnaires. IQSEC2 encephalopathy prevalence estimate was 7.0 to 7.9 × 10−7. Criteria for typical RTT were met in 42.1% of the cases, although psychomotor regression was occasionally evidenced. Genetic diagnosis was occasionally achieved in infancy despite a clinical onset before the first 24 months of life. High severity in both the CNS and extra-CNS manifestations for the IQSEC2 patients was documented and related to a consistently adverse quality of life. Neurodevelopmental delay was diagnosed before the onset of epilepsy by 1.8 to 2.4 years. An earlier age at menarche in IQSEC2 female patients was reported. Sleep disturbance was highly prevalent (60 to 77.8%), with mandatory co-sleeping behavior (50% of the female patients) being related to de novo variant origin, younger age, taller height with underweight, better social interaction, and lower life quality impact for the family and friends area. In conclusion, the IQSEC2 encephalopathy is a rare and likely underdiagnosed developmental encephalopathy leading to an adverse life quality impact. Full article
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9 pages, 602 KiB  
Brief Report
Asserting a Functional Neurological Symptom Disorder with a Complementary Diagnostic Approach: A Brief Report
by Anais Ogrizek, Thomas Ros, Maude Ludot, Marie-Rose Moro, Yves Hatchuel, Nicolas Garofalo Gomez, Rahmeth Radjack and Arthur Felix
Children 2023, 10(10), 1601; https://doi.org/10.3390/children10101601 - 25 Sep 2023
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Abstract
Introduction: Functional neurological symptom disorder (FNSD) is a common diagnosis among adolescents. However, we feel it is a difficult diagnosis to assess because of the diversity of its clinical manifestations, the rapid changes in its nosography over the years, and its common imbrication [...] Read more.
Introduction: Functional neurological symptom disorder (FNSD) is a common diagnosis among adolescents. However, we feel it is a difficult diagnosis to assess because of the diversity of its clinical manifestations, the rapid changes in its nosography over the years, and its common imbrication with established somatic diagnoses. We would like to illustrate this hypothesis through a case presentation and the original diagnostic process that emerged from it. Methods: We chose to present our diagnosis approach through the case of an 11-year-old boy who showed a progressive loss of motor and sensory function to the point of total dependency, and then suddenly switched between this state and a “normal” physical presentation, while deliriously claiming to be an angel. Results: All possible infectious, autoimmune, metabolic, and toxic disorders were ruled out. After the successive therapeutic failures of antidepressants and neuroleptics, FNSD was diagnosed. Conclusion: The DSM-5-TR classification was insufficient to explain the full clinical picture and a complementary approach (biblical, psychoanalytical, and historical) was used to analyze the cause of this atypical presentation. Full article
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19 pages, 444 KiB  
Systematic Review
A Systematic Literature Review of the Teaching Considerations and Practices Provided to Children in an Education Setting with Comorbid Disability and Developmental Trauma
by Simone Collier and India Bryce
Children 2023, 10(8), 1289; https://doi.org/10.3390/children10081289 - 26 Jul 2023
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Abstract
Developmental trauma and disability are frequently co-occurring lived experiences for children and young people. The present research explores the considerations and practices for pedagogy provided to children with a disability and who have experienced developmental trauma in an educational setting. A systematic literature [...] Read more.
Developmental trauma and disability are frequently co-occurring lived experiences for children and young people. The present research explores the considerations and practices for pedagogy provided to children with a disability and who have experienced developmental trauma in an educational setting. A systematic literature review was conducted to explore and synthesise the current evidence base that exists relating to the considerations for quality teaching practice for this cohort of students within schools. Findings revealed five key themes, which contribute to an understanding of considerations and practices for teaching students with childhood trauma experiences whilst considering an additional dimension intersecting with disabilities including mental ill-health. The findings of this study broaden the understanding of the complexities facing the education sector in ensuring inclusion principles are enacted to increase impact and improve outcomes for these students with multiple and complex needs. Full article
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