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10th Anniversary of JCM—Research Updates in Developmental Psychopathology and Pediatric Neurology

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A special issue of Journal of Clinical Medicine (ISSN 2077-0383). This special issue belongs to the section "Mental Health".

Deadline for manuscript submissions: closed (30 June 2023) | Viewed by 24012

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Prof. Dr. Michele Roccella

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Department of Psychology, Educational Science and Human Movement, University of Palermo, 90128 Palermo, Italy
Interests: neurodevelopmental disorders; encephalopathies; epilepsies; neuromuscular diseases; sleep disorders; rare genetic syndromes; neuropsychological disorders
Special Issues, Collections and Topics in MDPI journals

Dr. Luigi Vetri

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Oasi Research Institute-IRCCS, 94018 Troina, Italy
Interests: neurodevelopmental disorders; epilepsy; autism; intellectual disability; primary headache; rare genetic syndromes; neuropsychological disorders; psychiatric disorders in children and adolescents
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

Dear Colleagues,

An accurate identification of children’s pathogenic neuropsychological developmental trajectories or, on the contrary, of children's typical developmental trajectories is one of the main objectives of developmental psychopathology. This branch of medical sciences integrates various disciplines and areas of study, including embryology, neuroscience, ethology, clinical psychology, and neuropsychiatry.

Psychopathological disorders usually begin early during an individual's neuropsychological development and generally involve some degree of impairment in a child's personal, social, and academic functioning.

The meticulous clinical and therapeutic characterization is crucial for an effective treatment of the main childhood psychopathological conditions such as anxiety disorders, mood disorders, attention deficit hyperactivity disorder, autism spectrum disorder, sleep disorders, specific learning disorders, behavioral disorders, intellectual disabilities, eating disorders, tic disorders, and communication disorders.

This process should also ensure the early identification of both genetic and environmental psychopathological risk and resilience factors and the analysis of frequent medical and neurological comorbidities that often complicate the clinical picture. In fact, in pediatric neurological diseases such as epilepsy or chronic headaches, psychopathological consequences are common and are sometimes more disabling than the disease itself.

This Special Issue will collect the experiences of clinical psychologists, psychiatrists, neurologists, and pediatricians from different areas and countries in order to acquire new perspectives in the diagnosis and treatment of childhood neurodevelopmental disorders.

Prof. Dr. Michele Roccella
Dr. Luigi Vetri
Guest Editors

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Submitted manuscripts should not have been published previously, nor be under consideration for publication elsewhere (except conference proceedings papers). All manuscripts are thoroughly refereed through a single-blind peer-review process. A guide for authors and other relevant information for submission of manuscripts is available on the Instructions for Authors page. Journal of Clinical Medicine is an international peer-reviewed open access semimonthly journal published by MDPI.

Please visit the Instructions for Authors page before submitting a manuscript. The Article Processing Charge (APC) for publication in this open access journal is 2600 CHF (Swiss Francs). Submitted papers should be well formatted and use good English. Authors may use MDPI's English editing service prior to publication or during author revisions.

Keywords

intellectual disability
attention deficit hyperactivity disorder
autism spectrum disorder
anxiety
mood
epilepsy
sleep
emotions
learning disability
headache

Published Papers (10 papers)

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Research

11 pages, 1380 KiB

Open AccessArticle

Virtual Reality Technology to Enhance Conventional Rehabilitation Program: Results of a Single-Blind, Randomized, Controlled Pilot Study in Patients with Global Developmental Delay

by Carmela Settimo, Maria Cristina De Cola, Erica Pironti, Rosalia Muratore, Fabio Mauro Giambò, Angelo Alito, Maria Tresoldi, Margherita La Fauci, Carmela De Domenico, Emanuela Tripodi, Caterina Impallomeni, Angelo Quartarone and Francesca Cucinotta

J. Clin. Med. 2023, 12(15), 4962; https://doi.org/10.3390/jcm12154962 - 28 Jul 2023

Cited by 3 | Viewed by 982

Abstract

Global developmental delay (GDD) is a complex disorder that requires multimodal treatment involving different developmental skills. The objective of this single-blind, randomized, controlled pilot study is to evaluate the feasibility and effectiveness of conventional rehabilitation programs integrated with the BTs-Nirvana virtual reality system. Patients with GDD aged 12 to 66 months were enrolled and treated for a 48-session cycle. Patients were randomized into two groups, (1) conventional treatment and (2) conventional treatment supplemented with the use of BTs-Nirvana, in a 1:1 ratio. Before and after treatments, areas of global development were tested with the Griffiths-III Mental Developmental Scale and the clinical indicator of global improvement were measured with the Clinical Global Impressions-Improvement (CGI-I). Feasibility was confirmed by the high retention rate. The experimental group presented a significantly improvement in General Quotient (GQ) after treatment (GQ, p = 0.02), and the effect of the two treatments was significantly different in both the GQ (t =2.44; p = 0.02) and the Foundations of Learning subscale (t =3.66; p < 0.01). The overall improvement was also confirmed by the CGI-I (p = 0.03). According to these preliminary data, virtual reality can be considered a useful complementary tool to boost the effectiveness of conventional therapy in children with GDD. Full article

(This article belongs to the Special Issue 10th Anniversary of JCM—Research Updates in Developmental Psychopathology and Pediatric Neurology)

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11 pages, 278 KiB

Open AccessArticle

Sex/Gender Differences in the Language Profiles of Italian Children with Autism Spectrum Disorder: A Retrospective Study

by Jessica Barsotti, Gloria Mangani, Roberta Nencioli, Antonio Narzisi, Lucia Pfanner, Anna Maria Chilosi, Paola Cipriani, Alice Mancini, Angela Cosenza, Raffaella Tancredi and Sara Calderoni

J. Clin. Med. 2023, 12(15), 4923; https://doi.org/10.3390/jcm12154923 - 26 Jul 2023

Viewed by 1018

Abstract

Sex/gender (S/G) differences in ASD language profiles have been poorly investigated. The present study aims to explore whether male (M) and female (F) children with ASD and with normal non-verbal cognitive abilities differ in their linguistic profiles. A sample of 76 Italian children with ASD (range: 4.9–8 years), including 50 Ms and 26 Fs, was retrospectively recruited. Language profiles were analyzed using standardized tests for the evaluation of receptive and expressive vocabulary as well as grammar. Grammatical comprehension was the most impaired domain compared to the other language measures in both M and F children. Comparing language profiles between S/G, Fs showed significantly better scores than Ms in grammatical production (p = 0.002), and Ms showed better active negative sentence comprehension (p = 0.035). Moreover, comparing the language profiles between Ms and Fs with a receptive disorder, Fs had significantly worse grammatical comprehension and better grammatical production than Ms. Even among children without a receptive disorder, Fs had significantly higher grammatical production scores. The S/G differences in language profile, particularly better expressive language in Fs than Ms, can partially contribute to the delayed ASD diagnosis or underdiagnosis of Fs without intellectual disability. Finally, the results document the importance of accurately investigating both expressive and receptive abilities in children with ASD. Full article

(This article belongs to the Special Issue 10th Anniversary of JCM—Research Updates in Developmental Psychopathology and Pediatric Neurology)

15 pages, 901 KiB

Open AccessArticle

Psychiatric Comorbidities in Children and Adolescents with High-Functioning Autism Spectrum Disorder: A Study on Prevalence, Distribution and Clinical Features in an Italian Sample

by Elisa Fucà, Silvia Guerrera, Giovanni Valeri, Laura Casula, Roberta Lucia Novello, Deny Menghini and Stefano Vicari

J. Clin. Med. 2023, 12(2), 677; https://doi.org/10.3390/jcm12020677 - 14 Jan 2023

Cited by 3 | Viewed by 2658

Abstract

This study investigated the prevalence and distribution of psychiatric comorbidities in a group of 472 children and adolescents with ASD aged 3–18 years. We examined differences in age, sex, IQ, adaptive skills, and ASD symptom severity by comparing participants with ASD (ASD group) with participants with ASD and a psychiatric disorder (ASD/PSY group). Overall, 32.2% of participants had a comorbid psychiatric condition. Attention deficit/hyperactivity disorder (ADHD) was the most frequent diagnosis among preschoolers (20.4%); among school-age children, ADHD and anxiety/obsessive-compulsive disorders were the most frequent conditions (21% and 10.6%, respectively); finally, adolescents exhibit higher prevalence of anxiety/obsessive-compulsive disorders (21.8%). The ASD/PSY group showed a higher percentage of males, they were older and showed lower adaptive skills than the group with ASD; moreover, their mothers exhibited higher stress levels than mothers of participants in the ASD group. The comparison between age groups in participants within ASD/PSY group revealed that preschoolers had lower IQ than school-age children and adolescents, and worse adaptive skills, more repetitive behaviors, and restricted interests than adolescents. This study highlights the importance of an accurate diagnosis of psychiatric comorbidities in children and adolescents with ASD, also considering individual and family impairment. Full article

(This article belongs to the Special Issue 10th Anniversary of JCM—Research Updates in Developmental Psychopathology and Pediatric Neurology)

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11 pages, 481 KiB

Open AccessArticle

Neuropsychological and Behavioral Profile in Sleep-Related Hypermotor Epilepsy (SHE) and Disorders of Arousal (DOA): A Multimodal Analysis

by Monica Puligheddu, Patrizia Congiu, Michela Figorilli, Ludovica Tamburrino, Patrizia Pisanu, Roberta Coa, Maria Giuseppina Mascia, Davide Fonti, Rosamaria Lecca, Enzo Grossi and Antonella Gagliano

J. Clin. Med. 2023, 12(1), 374; https://doi.org/10.3390/jcm12010374 - 03 Jan 2023

Cited by 1 | Viewed by 2503

Abstract

Study Objectives: Disorder of arousal (DOA) and sleep-related hypermotor epilepsy (SHE) are complex, often bizarre, involuntary sleep behaviors, whose differential diagnosis may be challenging because they share some clinical features, such as sleep fragmentation. Mounting evidence highlights the critical role of sleep in cognitive functions. Controversial findings are raised about the cognitive profile in SHE; however, no studies have investigated the cognitive profile in DOA. This study aimed to assess whether sleep instability affects cognitive functions in patients with SHE or DOA. Methods: This study analyzed 11 patients with DOA, 11 patients with SHE, and 22 healthy controls (HC). They underwent full-night video polysomnography (vPSG) and comprehensive neuropsychological and behavioral evaluation. Differences in the variables of interest among the SHE group, DOA group, and their respective control groups were evaluated. The auto-contractive map (auto-CM) system was used to evaluate the strength of association across the collected data. Results: The SHE group had reduced sleep efficiency and increased wake after sleep onset (WASO); both the SHE and DOA groups showed increased % of N2 and REM sleep compared to the HC group. Neuropsychological and behavioral evaluations showed a different cognitive profile in the SHE group with respect to the HC group. The auto-CM showed that Pittsburgh Sleep Quality Index (PSQI), Beck depression inventory (BDI), MWCST_PE, Epworth sleepiness scale (ESS), WASO, N1, and % REM were strictly correlated with SHE, whereas the SE and arousal index (AI) were strictly related to DOA. Conclusions: Patients with SHE and DOA present different cognitive and psychiatric profiles, with subtle and selective cognitive impairments only in those with SHE, supporting the discriminative power of cognitive and psychiatric assessment in these two conditions. Full article

(This article belongs to the Special Issue 10th Anniversary of JCM—Research Updates in Developmental Psychopathology and Pediatric Neurology)

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15 pages, 2643 KiB

Open AccessArticle

¹H-NMR-Based Metabolomics in Autism Spectrum Disorder and Pediatric Acute-Onset Neuropsychiatric Syndrome

by Antonella Gagliano, Federica Murgia, Agata Maria Capodiferro, Marcello Giuseppe Tanca, Aran Hendren, Stella Giulia Falqui, Michela Aresti, Martina Comini, Sara Carucci, Eleonora Cocco, Lorena Lorefice, Michele Roccella, Luigi Vetri, Stefano Sotgiu, Alessandro Zuddas and Luigi Atzori

J. Clin. Med. 2022, 11(21), 6493; https://doi.org/10.3390/jcm11216493 - 01 Nov 2022

Cited by 5 | Viewed by 2761

Abstract

We recently described a unique plasma metabolite profile in subjects with pediatric acute-onset neuropsychiatric syndrome (PANS), suggesting pathogenic models involving specific patterns of neurotransmission, neuroinflammation, and oxidative stress. Here, we extend the analysis to a group of patients with autism spectrum disorder (ASD), as a consensus has recently emerged around its immune-mediated pathophysiology with a widespread involvement of brain networks. This observational case-control study enrolled patients referred for PANS and ASD from June 2019 to May 2020, as well as neurotypical age and gender-matched control subjects. Thirty-four PANS outpatients, fifteen ASD outpatients, and twenty-five neurotypical subjects underwent physical and neuropsychiatric evaluations, alongside serum metabolomic analysis with 1H-NMR. In supervised models, the metabolomic profile of ASD was significantly different from controls (p = 0.0001), with skewed concentrations of asparagine, aspartate, betaine, glycine, lactate, glucose, and pyruvate. Metabolomic separation was also observed between PANS and ASD subjects (p = 0.02), with differences in the concentrations of arginine, aspartate, betaine, choline, creatine phosphate, glycine, pyruvate, and tryptophan. We confirmed a unique serum metabolomic profile of PANS compared with both ASD and neurotypical subjects, distinguishing PANS as a pathophysiological entity per se. Tryptophan and glycine appear as neuroinflammatory fingerprints of PANS and ASD, respectively. In particular, a reduction in glycine would primarily affect NMDA-R excitatory tone, overall impairing downstream glutamatergic, dopaminergic, and GABAergic transmissions. Nonetheless, we found metabolomic similarities between PANS and ASD that suggest a putative role of N-methyl-D-aspartate receptor (NMDA-R) dysfunction in both disorders. Metabolomics-based approaches could contribute to the identification of novel ASD and PANS biomarkers. Full article

(This article belongs to the Special Issue 10th Anniversary of JCM—Research Updates in Developmental Psychopathology and Pediatric Neurology)

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15 pages, 2624 KiB

Open AccessArticle

Motor Coordination and Global Development in Subjects with Down Syndrome: The Influence of Physical Activity

by Marianna Alesi, Valerio Giustino, Ambra Gentile, Manuel Gómez-López and Giuseppe Battaglia

J. Clin. Med. 2022, 11(17), 5031; https://doi.org/10.3390/jcm11175031 - 27 Aug 2022

Cited by 7 | Viewed by 2464

Abstract

Background: Many research studies have investigated motor impairments and delayed development in children with Down Syndrome (DS). However, very few studies detected these features in adults with DS. Hence, this study aimed to investigate the relationship between motor coordination and global development in subjects with DS, including adults. Furthermore, the second aim was to detect any differences in motor coordination and global development as a function of the practice of physical activity (PA) in this population. Methods: Twenty-five participants with DS (10 f, 15 m), with a chronological mean age of 27.24 years and development mean age of cognitive area of 4.93 years, were enrolled and divided into a physically active group (PA-G; n = 15) and a physically inactive group (PI-G; n = 10). All participants performed the Movement Assessment Battery for Children (M-ABC) to assess fine and gross motor skills, while the Developmental Profile 3 (DP-3) checklist was administered to the parents in order to screen strengths and weaknesses of five developmental areas of their relatives with DS. Results: Our results showed positive correlations between the following variables: global motor coordination and global development, global motor coordination and adaptive behavior development area, aiming and catching skills and global development, aiming and catching skills and adaptive behavior development area. As for the practice of PA, PA-G showed higher scores than PI-G in all the tasks of both the M-ABC and the DP-3, though significant differences were found only for the global motor coordination, for the aiming and catching skills, as well as for the physical development area. Conclusions: The findings of this study reinforce the need to implement and encourage the practice of PA in order to promote well-being and social inclusion in subjects with DS. Full article

(This article belongs to the Special Issue 10th Anniversary of JCM—Research Updates in Developmental Psychopathology and Pediatric Neurology)

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15 pages, 3413 KiB

Open AccessArticle

Epilepsy in Pediatric Patients—Evaluation of Brain Structures’ Volume Using VolBrain Software

by Magdalena Maria Woźniak, Monika Zbroja, Małgorzata Matuszek, Olga Pustelniak, Weronika Cyranka, Katarzyna Drelich, Ewa Kopyto, Andrzej Materniak, Tomasz Słomka, Maciej Cebula and Agnieszka Brodzisz

J. Clin. Med. 2022, 11(16), 4657; https://doi.org/10.3390/jcm11164657 - 09 Aug 2022

Cited by 3 | Viewed by 2193

Abstract

Epilepsy is one of the most frequent serious brain disorders. Approximately 30,000 of the 150,000 children and adolescents who experience unprovoked seizures are diagnosed with epilepsy each year. Magnetic resonance imaging is the method of choice in diagnosing and monitoring patients with this condition. However, one very effective tool using MR images is volBrain software, which automatically generates information about the volume of brain structures. A total of 57 consecutive patients (study group) suffering from epilepsy and 34 healthy patients (control group) who underwent MR examination qualified for the study. Images were then evaluated by volBrain. Results showed atrophy of the brain and particular structures—GM, cerebrum, cerebellum, brainstem, putamen, thalamus, hippocampus and nucleus accumbens volume. Moreover, the statistically significant difference in the volume between the study and the control group was found for brain, lateral ventricle and putamen. A volumetric analysis of the CNS in children with epilepsy confirms a decrease in the volume of brain tissue. A volumetric assessment of brain structures based on MR data has the potential to be a useful diagnostic tool in children with epilepsy and can be implemented in clinical work; however, further studies are necessary to enhance the effectiveness of this software. Full article

(This article belongs to the Special Issue 10th Anniversary of JCM—Research Updates in Developmental Psychopathology and Pediatric Neurology)

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11 pages, 896 KiB

Open AccessArticle

A Preliminary Study on Photic Driving in the Electroencephalogram of Children with Autism across a Wide Cognitive and Behavioral Range

by Luigi Vetri, Laura Maniscalco, Paola Diana, Marco Guidotti, Domenica Matranga, Frédérique Bonnet-Brilhault and Gabriele Tripi

J. Clin. Med. 2022, 11(13), 3568; https://doi.org/10.3390/jcm11133568 - 21 Jun 2022

Cited by 2 | Viewed by 1541

Abstract

Intermittent photic stimulation (IPS) is a useful technique in electroencephalography (EEG) to investigate the neurophysiological anomalies of brain activity. Although not an active task, IPS has also been explored in ASD; it is thought to capture local potential oscillators at specific frequencies and perhaps tap into rhythmic activity in a way that general resting-state recordings cannot. Previous studies suggest that individuals with ASD showed photic driving reactivity predominantly at lower frequencies of stimulation. In our study we used IPS to measure rhythmic oscillatory activity in a sample of 81 ASD children. We found a significant correlation linking ASD children with photic driving activation only at low frequencies (δθ band) and increased severity of “restricted behavior”. This suggests that ASD children with higher severity of restricted behaviors could have a hypersynchronous θ power and an impaired resonance synchronization at middle-ranged frequencies (α). Furthermore, we found some evidence of hemispherical oscillatory asymmetry linked particularly to behavioral impairments. This result is in line with the EEG pattern model indicating a “U-shaped profile” of electrophysiological power alterations with excess power in low- and high-frequency bands and a reduction of power in the middle-ranged frequencies. IPS technique in electroencephalography is confirmed to reveal EEG biomarkers in autistic children, with a focus on spectral power, coherence, and hemisphere asymmetries. Full article

(This article belongs to the Special Issue 10th Anniversary of JCM—Research Updates in Developmental Psychopathology and Pediatric Neurology)

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13 pages, 294 KiB

Open AccessArticle

Body Emotional Investment and Emotion Dysregulation in a Sample of Adolescents with Gender Dysphoria Seeking Sex Reassignment

by Maria Giuseppina Petruzzelli, Lucia Margari, Flora Furente, Lucia Marzulli, Francesco Maria Piarulli, Anna Margari, Sara Ivagnes, Elisabetta Lavorato and Emilia Matera

J. Clin. Med. 2022, 11(12), 3314; https://doi.org/10.3390/jcm11123314 - 09 Jun 2022

Cited by 3 | Viewed by 1934

Abstract

Adolescents with gender dysphoria (GD) often have internalizing symptoms, but the relationship with affective bodily investment and emotion dysregulation is actually under-investigated. The aims of this study are: (1) the comparison of Self-Administrated Psychiatric Scales for Children and Adolescents’ (SAFA), Body Investment Scale’s (BIS), and Difficulties in Emotion Regulation Scale’s (DERS) scores between GD adolescents (n = 30) and cisgenders (n = 30), (2) finding correlations between body investment and emotion regulation in the GD sample, (3) evaluating the link between these dimensions and internalizing symptomatology of GD adolescents. In addition to the significant impairment in emotion regulation and a negative body investment in the GD sample, Spearman’s correlation analyses showed a relationship between worse body protection and impaired emotion regulation, and binary logistic regressions of these dimensions on each SAFA domain evidenced that they may have a role in the increased probability of pathological scores for depression. Our results focused on the role played by emotion regulation and emotional investment in the body in the exacerbating and maintenance of internalizing symptoms, in particular depression, and self-harming behaviors in GD adolescents. Full article

(This article belongs to the Special Issue 10th Anniversary of JCM—Research Updates in Developmental Psychopathology and Pediatric Neurology)

15 pages, 514 KiB

Open AccessArticle

Parenting Stress in Mothers of Children and Adolescents with Down Syndrome

by Elisa Fucà, Floriana Costanzo, Luciana Ursumando and Stefano Vicari

J. Clin. Med. 2022, 11(5), 1188; https://doi.org/10.3390/jcm11051188 - 23 Feb 2022

Cited by 6 | Viewed by 4492

Abstract

Parenting stress has deleterious effects on parents, children, and overall family functioning. Parents of children with intellectual disability, including Down Syndrome (DS), show higher levels of parenting stress than parents of typically developing children. This research aimed to (i) evaluate parenting stress levels in a group of mothers of youths with DS using a parent-report questionnaire, (ii) identify children’s individual and clinical features associated with maternal stress, and (iii) identify specific situational life/demographics factors related to maternal stress. Seventy-eight youths with DS underwent a neuropsychological evaluation, whereas mothers completed questionnaires for the assessment of parenting stress and of the child’s emotional and behavioral problems. We found that Parent–Child Difficult Interaction was the domain with the highest percentage of clinical scores (39.7%). Both internalizing and externalizing problems correlated with maternal stress, as well as autistic symptoms. The levels of maternal stress were not associated with any socio-demographic variable. After controlling for child-related correlates of maternal stress and for mothers’ age and education level, unemployed mothers exhibited higher levels of parental distress than employed mothers. The present study highlights that unemployment is related with parenting stress and potentially amenable to policy interventions supporting parents in combining work and family care. Full article

(This article belongs to the Special Issue 10th Anniversary of JCM—Research Updates in Developmental Psychopathology and Pediatric Neurology)

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