Search Results (159)

Background: Some neonates are assessed for the risk of atypical psychomotor development at birth and are referred for reflex locomotion therapy using the Vojta method. Aim: The aim of this study was to analyze the relationships between spontaneous motor activity (SMA), ideal movement patterns (IMPs), central coordination disorders (CCDs), vital signs at birth, involuntary reflexes, and postural asymmetry in infants. Methods: This study involved 90 female and 107 male subjects in the age interval of 1–16 months (4.15 ± 2.18). Their psychomotor development was assessed using the Vojta method. Age-appropriate involuntary reflexes were evaluated, and both parameters were correlated with perinatal risk factors. Results: Males scored significantly higher than females (difference of −0.7, p = 0.022) in the SMA test. In both genders, SMA (p < 0.001 in both genders) and IMP scores improved significantly with age. In male infants, higher CCD scores were associated with significantly lower SMA and IMP scores (p = 0.017 and p < 0.001, respectively). Significantly higher CCD scores were noted in female subjects with the Moro reflex and postural asymmetry (p = 0.003 and p = 0.002, respectively). In males, the Moro reflex was significantly correlated with the Vojta reaction (p = 0.012) and the Collis vertical suspension reflex (p < 0.001). Conclusions: Vital signs at birth, including birth weight, Apgar score, and type of delivery, can predict motor development disorders but do not clearly differentiate infants that require neurodevelopmental therapy. Full article

Depressive disorders significantly impact individuals worldwide, including children and adolescents. Despite their widespread occurrence, early and precise diagnosis of depressive disorders remains a complex and challenging task, particularly in younger populations. This study proposes a novel machine learning framework leveraging kinematic handwriting analysis to enhance the detection of psychomotor disturbances indicative of psychomotor retardation in youths with depression. The handwriting data were acquired from 20 youths with depression and 20 healthy controls. All participants completed a simple repetitive handwriting task: continuous writing of the small cursive Latin letter “l”. Segmentation of the handwriting data into individual “Letters” was conducted, and 177 kinematic features were extracted and analyzed. Statistical methods were used to identify significant features. After recursive feature elimination, classification was achieved through machine learning algorithms: logistic regression, support vector machine, and random forest. After the identification of 40 significant features, logistic regression, utilizing an optimal three-feature subset, achieved the highest accuracy in classifying individual letters of 76.7% and the highest accuracy in classifying subjects of 82.5%. The feature selection process revealed that velocity-related features were most effective in distinguishing patients with depression from controls, expectedly reflecting a slowdown in psychomotor functioning among the patients. The findings demonstrate that kinematic handwriting analysis, when combined with machine learning techniques, offers a promising tool to support objective recognition of psychomotor speed, providing insight into psychomotor retardation in youth with depression. Full article

Background: The COVID-19 pandemic has had a profound impact on pediatric mental health, contributing to a global surge in psychiatric emergencies among children and adolescents. This study aimed to evaluate trends in pediatric emergency department (PED) visits for three key psychiatric conditions—anxiety disorders (ADs), self-injury behaviors (SIBs), and psychomotor agitation (PMA)—before and after the onset of the COVID-19 pandemic. Methods: We conducted a retrospective observational study at a tertiary pediatric hospital in Italy, analyzing all psychiatric presentations to the PED from 1 January 2018 to 31 December 2024. The data were divided into pre-COVID and post-COVID periods and included patient demographics, recurrence of visits, clinical features, hospital admissions, and pharmacological management. Diagnoses were confirmed by chart review. Results: Of 233,867 total PED visits, 1082 were due to primary psychiatric concerns. A marked increase in visits was observed postCOVID: SIB incidence rose from 3.6 to 15.1 per 10,000 visits (p < 0.0001), PMA from 9.4 to 17.8 (p < 0.0001), and AD from 17.7 to 21.6 (p = 0.018). SIB cases showed increased recurrence (from 3.4% to 27.4%, p = 0.004) and greater pharmacological intervention, whereas PMA was associated with a rise in heteroaggression (from 14.3% to 39.8%, p < 0.0001). Pharmacological treatment remained largely consistent, with benzodiazepines and neuroleptics most frequently used. The emerging use of intranasal ketamine was noted in select cases. Conclusions: This study highlights the increasing burden of pediatric psychiatric emergencies in the wake of the COVID-19 pandemic. The findings underscore the urgent need to implement standardized emergency care protocols, strengthen outpatient mental health services, and develop pediatric-specific pharmacological guidelines to improve outcomes in this vulnerable population. Full article

Background and Clinical Significance: Herein, we describe the clinical case of a 17-year-old patient with psychotic disorder secondary to cerebral venous thrombosis due to primary thrombophilia, which was related to protein S deficiency and a heterozygous MTHFR gene mutation with the p.Ala222Val variant. Case presentation: A 17-year-old female, with no history of previous illnesses, was admitted to the emergency service department due to a psychotic break. Psychiatric evaluation detected disorganized thought, euphoria, ideas that were fleeting and loosely associated, psychomotor excitement, and deviant judgment. On the fifth day, an inflammatory process in the parotid gland was detected, pointing out a probable viral meningoencephalitis, prompting antiviral and antimicrobial treatment. One week after antiviral and steroidal anti-inflammatory treatments, the symptoms’ improvement was minimal, which led to further neurological workup. MRI venography revealed a filling defect in the transverse sinus, consistent with cerebral venous thrombosis. Consequently, anticoagulation treatment with enoxaparin was initiated. The patient’s behavior improved, revealing that the encephalopathic symptoms were secondary to thrombosis of the venous sinus. Hematological studies indicated the cause of the venous sinus thrombosis was a primary thrombophilia caused by a heterozygous MTHFR mutation variant p.Ala222Val and a 35% decrease in plasmatic protein S. Conclusions: This case highlights the possible relationship between psychiatric and thrombotic disorders, suggesting that both the MTHFR mutation and protein S deficiency could lead to psychotic disorders. Early detection of thrombotic risk factors in early-onset psychiatric disorders is essential for the comprehensive management of patients. Full article

Moringa oleifera (MO) leaf infusion has gained attention for its potential therapeutic effects, particularly in metabolic health, due to its rich content of bioactive compounds, including polyphenols. The study evaluates the antioxidant properties and metabolic effects of the prophylactic administration of MO infusion in a high-fat diet (HFD)-induced murine model. First, polyphenol content (0.45 mg/g) and antioxidant activity (45.39%) were determined using Folin-Ciocalteu, DPPH, phosphomolybdenum, ferrocyanide, and anti-browning assays. In the in vivo phase, BALB/c mice were divided into three groups: a balanced diet group, a negative control group, and an HFD group supplemented with MO infusion. Over eight months, biochemical analyses, psychomotor tests, glucose tolerance assessments, and liver histopathology were conducted. MO infusion significantly reduced food intake, weight gain, lipid profiles, and liver inflammation compared to the negative control group, while promoting a metabolic profile similar to that of the balanced diet group. Additionally, it positively influenced psychomotor performance, reinforcing its neuroactive potential. These findings suggest that MO leaf infusion may serve as a functional beverage with protective effects against metabolic disorders, offering a promising natural strategy for managing obesity-related health issues. Full article

Objectives: West syndrome (WS) is a rare disorder with an estimated prevalence of 1 in 4000 live births, characterized by infantile spasms, hypsarrhythmia, and psychomotor developmental impairment. The available information on dental care forWS patients remains limited. The aim of this study was to describe oral manifestations and dental management in a series of WS patients. Methods: Fourteen patients diagnosed with WS were evaluated, including 10 males and 4 females, aged 12–41 years. Medical and dental variables were collected for all patients. Results: The most frequent oral findings were poor oral hygiene (64.2%), gingivitis (64.2%), dental caries (57.1%), and bruxism/tooth wear (28.5%). Only one patient had dental fractures (due to trauma), and none exhibited drug-induced gingival enlargement. Initial dental treatment was carried out under general anesthesia in 42.3% of the patients. However, following desensitization, half of the patients showed improved behavior and were ultimately treated using non-pharmacological behavioral support techniques. Conclusions: This series represents the largest published to date on the dental aspects of WS. Dental treatment needs of WS patients are considerable, and their management is primarily determined by the degree of epilepsy control, the presence of comorbidities, and the level of cooperation. Nevertheless, these patients may benefit from desensitization strategies to improve their behavior. As subsequent sessions were conducted, the behavior of 1 in every 3 initially non-compliant patients showed significant improvement. Full article

Sepiapterin Reductase Deficiency (SRD) is a rare inherited neurometabolic disorder caused by variants in the SPR gene, which may lead to developmental delays, psychomotor retardation, and cognitive impairments. Two consanguineous North African and Middle Eastern families are reported with multiple affected individuals presenting with developmental delay, ataxia, hypotonia, fatigue, and ptosis, or parkinsonism and cognitive impairment. Exome sequencing revealed a novel homozygous SPR c.560A>G (p.Glu187Gly) mutation that segregates with disease. According to molecular dynamics analysis, the substitution is predicted to compromise structural integrity, likely affecting ligand binding and catalytic activity. Elevated cerebrospinal fluid sepiapterin and biopterin levels, along with low neurotransmitter levels, were concordant with a genetic diagnosis of SRD and the reclassification of this variant as pathogenic. SRD patients manifest a broad constellation of symptoms, albeit well-managed using low-dose L-dopa/carbidopa. This study highlights the value of genetic testing in expediting early diagnosis and intervention to mitigate the onset of this disorder. Full article

Background: Epilepsy, particularly early-onset and drug-resistant forms, presents a significant challenge in pediatric neurology. Inborn errors of metabolism are increasingly recognized as important contributors to these types of epilepsy. Timely diagnosis and treatment are crucial in preventing irreversible metabolic damage and improving clinical outcomes in CAD deficiency. This condition is a progressive and severe metabolic disorder caused by biallelic deleterious variants in CAD gene, and is characterized by long seizures, psychomotor regression, and dyserythropoietic anemia. Methods: In this paper, we present four new cases of EIEE-50, emphasizing the importance of early, specific therapeutic interventions. Results: Oral uridine 100 mg/kg/day was administrated with improvement of motor and cognitive function as well as immediate seizures control. Conclusions: Our findings underscore the potential for improved outcomes of EIEE-50 trought timely diagnosis and targeted treatment strategies, reinforcing the role of uridine supplementation as a promising therapeutic approach. Full article

Leigh syndrome (LS) is a severe neurodegenerative condition with an early onset, typically during early childhood or infancy. The disorder exhibits substantial clinical and genetic diversity. From a clinical standpoint, Leigh syndrome showcases a broad range of irregularities, ranging from severe neurological issues to minimal or no discernible abnormalities. The central nervous system is most affected, resulting in psychomotor retardation, seizures, nystagmus, ophthalmoparesis, optic atrophy, ataxia, dystonia, or respiratory failure. Some patients also experience involvement of the peripheral nervous system, such as polyneuropathy or myopathy, as well as non-neurological anomalies, such as diabetes, short stature, hypertrichosis, cardiomyopathy, anemia, renal failure, vomiting, or diarrhea (Leigh-like syndrome). Mutations associated with Leigh syndrome impact genes in both the mitochondrial and nuclear genomes. Presently, LS remains without a cure and shows limited response to various treatments, although certain case reports suggest potential improvement with supplements. Ongoing preclinical studies are actively exploring new treatment approaches. This review comprehensively outlines the genetic underpinnings of LS, its current treatment methods, and preclinical investigations, with a particular focus on treatment. Full article

Objectives: The objective of this study was to analyze the correlation between muscle tone distribution disorders and asymmetry, with specific postnatal positional cranial deformities in infants. The study focused on assessing the level of unilateral occipital flattening and the extent of symmetrical occipital flattening. Methods: The study involved 60 infants aged between 1 and 5 months. Each infant was neurologically diagnosed and assigned to one of three groups: asymmetry, reduced muscle tone, or increased muscle tone. Each group consisted of 20 infants (10 girls and 10 boys). A MIMOS craniometer was used to measure the infants’ head shapes, calculating the cranial vault asymmetry (mm) and cranial index (%). The data were analyzed and processed using Statistica software and appropriate statistical tests. Results: The results revealed a correlation between asymmetry and reduced muscle tone, increased muscle tone, and specific positional head deformities in infants up to the age of 5 months. Full article

Background/Objectives: Schizophrenia is a clinically heterogeneous complex disorder with a substantial polygenic basis. The discovery of phenotypes indexing genetic differences advances research into the schizophrenia etiology but has proven to be challenging. The study aimed to further clarify the relationships of schizophrenia polygenic risk scores (SZ-PRSs) with a comprehensive array of schizophrenia antecedents and presentations using a culturally and ethnically homogeneous sample of schizophrenia spectrum patients. Methods: The top and bottom deciles (n = 172) of the SZ-PRS distribution in a group of 861 patients were compared on information derived from medical records using logistic regression. Results: High SZ-PRSs were associated with female sex, family history of a wide range of neuropsychiatric conditions, moderately poor premorbid social and cognitive adjustment in childhood, the schizophrenia diagnosis, and positive and “abnormal” psychomotor symptoms. The low-SZ-PRS group demonstrated an accumulation of both individuals with milder forms of SZ spectrum disorders and those with severe premorbid abnormalities in the social, cognitive, and neurological domains. Conclusions: The results highlight moderately poor premorbid social and cognitive adjustment as characteristic manifestations of the polygenic component of the schizophrenia etiology and provide the first piece of PRS-based evidence for the long-standing idea of a higher liability threshold in women. The presence of milder and severe cases in the bottom SZ-PRS decile, suggesting its etiological heterogeneity, might be an important source of the inconsistency in the previous research on SZ-PRSs’ relationship with schizophrenia phenotypes and should be considered in future studies. Full article

Background: Neurodevelopmental disorders (NDDs) encompass an inclusive group of conditions that appear during the developmental period but continue to persist in adulthood, ranging from particular difficulties to a global impairment of social, cognitive, and emotional functioning. The developmental trajectories associated with these conditions are highly heterogeneous. This study aimed to analyze and compare developmental and adaptive profiles of preschool-aged children with different NDDs to better characterize their developmental trajectories. Methods: We analyzed data from the initial global evaluation of 196 children with NDDs (aged 20 to 71 months), enrolled in three subgroups: 108 with autism spectrum disorder (ASD), 52 with language disorder (LD), and 36 with mixed specific developmental disorder (MSDD). A comprehensive neuropsychiatric evaluation was performed using standardized tools (Griffiths-III, ADOS-2, VABS-II, and ADI-R), and the parents completed the DP-3 and the CBCL 1½-5. Results: Our results showed that all NDDs exhibited poor psychomotor skills, with children with ASD being the most impaired, although their profiles were comparable to those of MSDD in communication and motor areas. CBCL’s pervasive developmental problem scale has been shown to provide relevant information for distinguishing children with ASD. Furthermore, DP-3 and VABS-II measure highly differentiated developmental profiles of each diagnostic group. Conclusions: Our results highlighted the importance of including parents’/caregivers’ perspectives in defining children’s functioning and the possibility of using DP-3 as a screening tool for different neurodevelopmental disorders. Full article

Background/Objectives: Cardiac rhabdomyoma (CR), the most frequently occurring fetal cardiac tumor, is often an early marker of tuberous sclerosis complex (TSC). This study evaluates outcomes of fetuses with prenatally diagnosed cardiac tumors managed at a single tertiary center. Methods: Medical records of fetuses diagnosed with cardiac tumors between 2009 and 2024 were retrospectively reviewed. Results: Sixteen cases were identified, with a median follow-up of 6.7 years. TSC was confirmed in 14 cases (88%). Multiple tumors were observed in 13 cases (81%), while 3 cases (19%) had solitary tumors. Both non-TSC cases involved solitary tumors. Cardiac complications (arrhythmias, conduction disorders, and hemodynamic abnormalities) occurred in 38% of cases prenatally and 69% postnatally, with larger tumor diameters significantly associated with complications (p = 0.02). No fetal hydrops or mortality occurred; however, one child died at age five due to a seizure. Postnatal tumor regression occurred in 56% of cases and complete regression in 38% by a median age of 2.3 years (range: 0.6–4.4). One tumor remained stable. Brain MRI revealed TSC-related changes in all TSC-affected patients except one, who had a developmental brain anomaly. Most TSC patients experienced epilepsy (71%) and developmental delays. Conclusion: While CRs are typically benign and regress spontaneously, their strong association with TSC highlights the importance of early diagnosis and family counseling. TSC-related epilepsy and psychomotor delays significantly impair the quality of life. Early mTOR inhibitor therapy offers promise in mitigating TSC-related complications and improving outcomes. Full article

Developmental and epileptic encephalopathies (DEEs) are a group of neuropediatric diseases associated with epileptic seizures, severe delay or regression of psychomotor development, and cognitive and behavioral deficits. What sets DEEs apart is their complex interplay of epilepsy and developmental delay, often driven by genetic factors. These two aspects influence one another but can develop independently, creating diagnostic and therapeutic challenges. Intellectual disability is severe and complicates potential treatment. Pathogenic variants are found in 30–50% of patients with DEE. Many genes mutated in DEEs encode ion channels, causing current conduction disruptions known as channelopathies. Although channelopathies indeed make up a significant proportion of DEE cases, many other mechanisms have been identified: impaired neurogenesis, metabolic disorders, disruption of dendrite and axon growth, maintenance and synapse formation abnormalities —synaptopathies. Here, we review recent publications on non-channelopathies in DEE with an emphasis on the mechanisms linking epileptiform activity with intellectual disability. We focus on three major mechanisms of intellectual disability in DEE and describe several recently identified genes involved in the pathogenesis of DEE. Full article

Molecular, genetic, and technological advances have led to increased knowledge regarding neonatal thyroid hormone metabolism disorders. Maternal and fetal hypothyroidism, which can cause psychomotor dysfunction syndromes or low IQ levels, can lead to brain damage, reduced fetal growth and incidental fetal death. The treatment of congenital hypothyroidism detected by screening programs performed during the neonatal period provides normalization of growth, IQ levels, and the physical, mental, and motor development of infants. Therefore, the early diagnosis and treatment of congenital hypothyroidism will prevent the development of complications. In this article, the classification and management of neonatal thyroid diseases are reviewed in light of the current scientific literature. Full article