Search Results (155)

Background: Quantitative assessment of proprioception in children with Developmental Coordination Disorder (DCD) is limited by methodological variability and the lack of developmentally appropriate protocols. Joint position sense (JPS) and force sense (FS) assessments are commonly used in adults; however, their reliability in pediatric populations has not been sufficiently established. The objective of this study was to evaluate the intra- and inter-rater reliability of adapted JPS and FS protocols in children with DCD and to determine whether the observed reliability supports the use of these methods in experimental research. Methods: A repeated-measurements reliability research design was employed. Twenty-eight children aged 10–15 years (mean age 12.86 years), with a mean body mass of 43.68 kg and a mean height of 149.32 cm, and with medically confirmed DCD, completed four proprioceptive tests: joint angle reproduction and differentiation, and force reproduction and differentiation. Absolute errors were calculated for each trial. Reliability was assessed using intraclass correlation coefficients (ICC2,k), standard error of measurement, and smallest detectable difference. Bland–Altman plots were used to evaluate agreement. Results: Reliability across all tests and movement directions ranged from good to excellent. Most ICC values exceeded 0.90, with only a small number falling between 0.86 and 0.90. Although differentiation tasks produced larger absolute errors than reproduction tasks, their reliability remained excellent. Bland–Altman analyses demonstrated acceptable bias, reasonable clustering around the mean difference, and only occasional outliers beyond the limits of agreement. Conclusions: The adapted JPS and FS protocols demonstrated high intra- and inter-rater reliability in children with DCD, supporting their use in experimental research. Full article

Down Syndrome Regression Disorder (DSRD) is a rare but severe neuropsychiatric condition characterized by abrupt loss of speech, autonomy, and cognitive abilities in individuals with Down syndrome, often associated with immune dysregulation and gut–brain axis dysfunction. We report the case of an 11-year-old girl with Down syndrome who developed developmental regression at age five, in temporal proximity to a family transition (the birth of a younger sibling), with loss of continence, language, and comprehension, alongside persistent behavioral agitation and gastrointestinal symptoms. Laboratory assessment revealed Giardia duodenalis infection, elevated fecal calprotectin and secretory IgA, and microbial imbalance with overgrowth of Streptococcus anginosus and S. sobrinus. The patient received a single oral dose of tinidazole (2 g), daily folinic acid (1 mg/kg), and a 90-day course of transcranial and abdominal photobiomodulation (PBM) (1064 nm, 10 min per site). Post-treatment, stool analysis showed normalized inflammation markers and restoration of beneficial bacterial genera (Bacteroides, Bifidobacterium, Lactobacillus) with absence of Enterococcus growth. Behaviorally, she exhibited marked recovery: CARS-2-QPC decreased from 106 to 91, ABC from 63 to 31, and ATEC from 62 to 57, alongside regained continence, speech, and fine-motor coordination. These outcomes suggest that abdominal and transcranial PBM, by modulating mitochondrial metabolism, mucosal immunity, and microbiota composition, may facilitate systemic and neurobehavioral recovery in DSRD. This translational case supports further investigation of PBM as a non-invasive, multimodal therapy for neuroimmune regression in genetic and developmental disorders including validation through future randomized controlled clinical trials. Full article

Background/Objectives: Cluttering in childhood and adolescence is characterised by unstable speech timing, excessive coarticulation, irregular rate and reduced intelligibility, yet the developmental mechanisms underpinning these behaviours remain partially understood. This review synthesises empirical and conceptual evidence to examine cluttering through the lenses of speech motor development, neurocognitive mechanisms, task demands and allied-health practice. Four research questions guided the review, focusing on motor characteristics, developmental and neurocognitive mechanisms, task dependence and clinical implications. Methods: Following the PRISMA guidelines, a comprehensive search across seven databases identified studies examining cluttering in children and adolescents. Screening and full-text review were conducted in Covidence by two reviewers, with disagreements resolved by the first author. Twelve studies met the inclusion criteria. Data were extracted into a structured evidence table, and findings were synthesised. Results: Across studies, cluttering emerged as a developmental motor–cognitive integration disorder. Speech motor systems, linguistic formulation and executive control showed difficulty aligning under real-world communicative demands, leading to timing instability, articulatory blurring and reduced intelligibility. Symptoms were strongly influenced by task complexity, with spontaneous and extended discourse eliciting the most pronounced breakdowns. Conclusions: Cluttering reflects a developmental vulnerability in coordinating speech motor, linguistic and executive processes. Understanding cluttering in this way challenges narrow rate-based definitions and supports more nuanced approaches to assessment and intervention. Significant evidence gaps remain, particularly in longitudinal, mechanistic, multilingual and ecologically valid research. This developmental motor–cognitive framework strengthens the conceptual foundations of cluttering and clarifies its relevance to children’s motor development. Full article

Children with Developmental Coordination Disorder (DCD) experience motor competence challenges that hinder their participation in physical activities and affect daily functioning. While traditional motor skills training is commonly used, sport-based interventions offer the potential for greater benefits by providing dynamic, contextually rich environments for learning. This study aimed to evaluate the effectiveness of mini-handball training versus conventional motor skills training in improving coordination in children with DCD. Methods: Forty-four children aged 9–10 years from Khorezm, Uzbekistan, with coordination difficulties (scores below the 16th percentile in the MABC-2) were randomly assigned to three groups: mini-handball training (n = 15), motor skills training (n = 15), and control (n = 14). Both intervention groups participated in three 90 min sessions per week for 12 weeks. The mini-handball group engaged in sport-specific drills including passing, dribbling, shooting, and small-sided games, while the motor skills group performed balance, locomotor, and fine motor exercises. Pre- and post-intervention assessments were conducted using the MABC-2. Data were analyzed using linear mixed models with time, group, and their interaction as fixed effects. Results: Both intervention groups demonstrated significant improvements in motor coordination compared to controls. However, in general, the mini-handball group outperformed the other groups, particularly in domains requiring anticipatory control and visuomotor integration, including aiming and catching, balance, and overall coordination scores. Conclusions: Mini-handball represents a promising, ecologically valid intervention for children with DCD. By integrating motor skills practice with cognitive challenge, social interaction, and intrinsic motivation within a meaningful sport context, mini-handball appears more effective than traditional training approaches. These findings suggest that sport-based, open-skill interventions should be considered in therapeutic protocols, school curricula, and community programs for children with DCD. Future research should examine long-term retention, transfer to daily activities, and implementation across diverse populations. Full article

Background/Objectives: Children with Developmental Coordination Disorder (DCD) frequently experience handwriting difficulties, or dysgraphia. The association between DCD and dysgraphia has long been observed and described. However, few studies have examined the acquisition and transfer of graphomotor skills in these children, i.e., their ability to learn new graphic gestures and reuse them in new tasks. The objective of this study was to evaluate the acquisition of pseudo-letters and their transfer to different types of tasks in children with DCD. Methods: Three case studies of children with DCD, with or without an associated dysgraphia, were compared to an age-matched control group. Participants learned to produce six pseudo-letters during an acquisition phase, then transferred their learning to two tasks: the first assessed the transfer of learned strokes to new pseudo-letters, and the second assessed the transfer of stroke sequences to combinations of two or three pseudo-letters. Performances were analyzed on the basis of four variables: handwritten product quality, and three measures reflecting the handwriting process, i.e., velocity, fluency, and the number of stops during writing. Results: Acquisition and transfer abilities differed depending on the presence and severity of dysgraphia. Only the presence of a severe dysgraphia associated with DCD led to a lower quality and a greater on-paper velocity than typically developing children during the learning test. As to transfer, DCD children were able to transfer their learning, even in the presence of a dysgraphia. Only in the case of the second, more distant, transfer task, the presence of a severe dysgraphia led to an increase in velocity and in fluency, and a decrease in the number of stops, in addition to the lower quality. This pattern is typical of handwriting in DCD children with dysgraphia. Conclusions: The acquisition of de novo graphomotor skills depends on the presence and severity of a dysgraphia associated with DCD, but not on the severity of other motor impairments. The further transfer of these skills is preserved in DCD children. Full article

Background/Objectives: Smith–Lemli–Opitz syndrome (SLOS) is a genetic metabolic disorder characterized by impaired cholesterol synthesis and a wide range of developmental anomalies. This article presents a case of a girl with SLOS, diagnosed with two pathogenic variants of the DHCR7 gene. The objective is to evaluate the impact of early, multidisciplinary therapeutic interventions on the patient’s development. Methods: Following diagnosis, a comprehensive metabolic therapy was initiated, including cholesterol and cholic acid supplementation. An interdisciplinary therapeutic approach was employed, involving physical therapy, speech therapy, and sensory integration, aimed at addressing various developmental challenges faced by the patient. Results: The therapy led to gradual improvements in the patient’s psychomotor development, although the cholesterol levels were only partially improved and the accumulation of sterol precursors (7-DHC and 8-DHC) persisted. The coordinated care model facilitated better outcomes compared to less integrated efforts. Conclusions: The results highlight the importance of early diagnosis and integrated care in optimizing developmental outcomes for children with SLOS. A multidisciplinary approach is essential for addressing the complexities of the syndrome and promoting overall development. Full article

Background: Atopic dermatitis (AD) is a common pediatric skin disease that is associated with other atopic comorbidities, all of which correlate with higher rates of neurocognitive alterations such as developmental delays and ADHD. Methods: We conducted a retrospective chart review from January 2022 through January 2024 and identified 79 children aged 0–5 years who were prescribed dupilumab in the Massachusetts General Brigham healthcare system. We defined the patient population (including demographics, atopic comorbidities, and neurocognitive burden), and assessed whether time to treatment access varied by patient or prescriber characteristics. Results: The mean age at dupilumab initiation was 3.4 years, and 62.0% of patients were male. The cohort was diverse (48.1% White, 25.3% Black, 16.5% Hispanic/Latino, 10.1% Asian/other), with 48.1% publicly insured. Atopic comorbidities were common: 64.6% had food allergies, 34.2% had asthma, and 10.1% had eosinophilic esophagitis (EOE); 73.4% had two or more atopic diagnoses. Neurodevelopmental disorders affected 43.0% of patients, with speech and language delay most frequent (25.3%) and higher rates among those with EOE (87.5% vs. 38.0%, p < 0.01). The mean time to dupilumab approval was 20.9 days, with dermatologists achieving faster approvals than other specialists (10.6 vs. 51.9 days, p < 0.001). Conclusions: Our findings reveal infrequently reported high rates of atopic and neurologic comorbidities in young children with AD and underscore the importance of coordinated inter-specialty collaboration to ensure timely access to dupilumab for these patients. Full article

Background: Developmental Coordination Disorder (DCD) is frequent in preterm children, but its etiology remains unclear, with conflicting findings across studies. Moreover, no previous research has examined the rate and risk factors of DCD in Brazilian preterm populations. Aim: To investigate biomedical and environmental risk factors associated with a later indication of DCD at preschool age in Brazilian preterm children. Methods: Sixty-three preterm children from a follow-up clinic were assessed at preschool age using the Movement Assessment Battery for Children—Second Edition (MABC-2). Biomedical data from the NICU stay and socioeconomic/environmental information were collected. The associations between potential risk factors and DCD were explored using multivariate logistic regression. Results: The prevalence of DCD was 52.4% (n = 33). Group differences were observed in sex, bronchopulmonary dysplasia, ventilatory support, and family income. Logistic regression [χ²(4) = 31.39; p < 0.006] identified sex, bronchopulmonary dysplasia, and family income as significantly factors associated with DCD. Conclusions: Both biomedical and environmental risk factors are associated with DCD at preschool age. These findings highlight the need for early screening and monitoring, as minor motor difficulties may be overlooked when such risk factors are observed. Full article

Background/Objectives: The Adolescent and Adult Coordination Questionnaire (AAC-Q) is a brief self-report tool developed to assess daily performance difficulties related to Criterion B of Developmental Coordination Disorder (DCD) across adolescence and adulthood. Despite the AAC-Q’s clinical and research relevance, its psychometric properties have not yet been comprehensively evaluated. This study aimed to examine the structural, construct, and criterion validity, internal consistency, and test–retest reliability of the AAC-Q and to establish normative percentile bands for Spanish adolescents and young adults (AAC-Q-ES). Methods: A cross-sectional psychometric study was conducted in 800 typically developing participants (200 adolescents, 600 young adults). Measurement properties—including factor structure, internal consistency, test–retest reliability, construct validity, and criterion validity—were assessed following COSMIN guidelines. Percentile cut-offs were calculated for adolescents and young adults. Results: The AAC-Q-ES revealed a three-factor structure with excellent fit indices (CFI = 0.95–0.98; RMSEA = 0.060–0.067). Internal consistency was good (α = 0.76–0.83), and test–retest reliability was excellent (ICC = 0.90, p < 0.001). Criterion validity with the Adult DCD/Dyspraxia Checklist was very high in adults (r = 0.972, p < 0.001), and construct validity in adolescents was confirmed through moderate correlations with the Flamingo Balance Test (r = −0.352, p < 0.01). Age- and sex-specific percentile bands were established. Conclusions: The AAC-Q-ES is a psychometrically robust, culturally adapted, and efficient tool for assessing functional difficulties related to DCD in Spanish adolescents and young adults, facilitating both clinical and research applications. Full article

Background/Objectives: Vascular Malformation—Osteolytic Subtype (VMOS) is an exceptionally rare autosomal recessive disorder caused by homozygous pathogenic variants in the ELMO2 gene, with fewer than ten genetically confirmed pediatric cases reported worldwide. This report presents the longitudinal dental management and clinical course of a child with VMOS, emphasizing the challenges of preventive and restorative care in such cases. Methods: A four-year-old child with a confirmed diagnosis of VMOS and a history of urgent bilateral coil embolization and surgical excision of mandibular aneurysmal bone cysts presented for dental care. The patient was followed for three years (2022–2025). Management focused on staged oral rehabilitation, preventive strategies, and restorative interventions adapted to changes across dentition stages. Results: At initial presentation, the child exhibited mandibular swelling, gingival hypertrophy, and a history of spontaneous intraoral bleeding. The postoperative course had been complicated by cerebral abscesses requiring prolonged intravenous antibiotics. During the primary dentition stage, full oral rehabilitation and strict preventive protocols were implemented to minimize caries and infection risk. In the mixed dentition period, the permanent incisors and molars erupted with enamel hypoplasia and developmental defects, necessitating composite restorations. Ectopic eruption and suboptimal oral hygiene, partly related to parental fear of bleeding, were also managed with reinforced preventive counseling. Conclusions: This case highlights the long-term dental implications of VMOS, underscoring the crucial role of the pediatric dentist in early preventive planning and individualized restorative management. Effective multidisciplinary coordination remains essential to preserve oral health and minimize complications in rare vascular syndromes with craniofacial involvement. Full article

Background: Autosomal dominant intellectual developmental disorder 51 (MIM #617788) is caused by pathogenic variants in KMT5B, a histone methyltransferase essential for transcriptional repression and central nervous system development. The disorder manifests as a complex neurodevelopmental syndrome with variable neurological and systemic features. Methods: Two adolescents with nonsense KMT5B variants underwent detailed clinical, neuropsychological, and neuroimaging evaluations, including MRI and ¹⁸FDG PET/CT, analyzed with Statistical Parametric Mapping against matched controls. RNA sequencing was performed, and the literature was reviewed to assess genotype–phenotype correlations. Results: Both patients showed global developmental delay, progressing to autism spectrum disorder (ASD) and developmental coordination disorder (DCD), without intellectual disability (ID). The MRI was normal, but neuropsychological testing revealed executive function impairment, expressive language deficits, and behavioral disturbances. PET/CT consistently demonstrated cerebellar and temporal lobe hypometabolism, correlating with symptom severity. RNA sequencing identified shared dysregulated pathways, notably DDIT4 upregulation, linked to synaptic dysfunction and neuronal atrophy in animal models. Conclusions: The findings highlight cerebellar involvement in DCD and ASD, medial temporal lobe contribution to ASD and executive dysfunction, and DDIT4 as a possible molecular signature of KMT5B loss-of-function. An integrative multimodal approach refined genotype–phenotype correlations and revealed novel brain regions and pathways implicated in KMT5B-related disorders. Full article

Background: Adolescents with autism spectrum disorder (ASD) display distinct neurodevelopmental trajectories marked by atypical neural activation and white matter maturation compared to neurotypical peers. Introduction: While improvements in face recognition and cognitive skills occur during childhood and adolescence, individuals with ASD often experience a plateau in these areas as they transition to adulthood, impacting daily living, executive function, social cognition, and emotional awareness. Results: Neuroimaging studies reveal altered white matter growth and connectivity in brain regions associated with social processing, which may underlie these functional challenges. Intellectual disability further compounds developmental difficulties by limiting foundational abilities and slowing progress. Discussion: The multifaceted and persistent service needs spanning legal, educational, vocational, health, and psychosocial domains highlight the necessity for coordinated, individualized, and family-centered approaches, particularly during the transition to adulthood. Advances in research integrating genetic, neurobiological, and behavioral data hold potential for refining diagnostic subgroups and personalizing interventions. Conclusion: Continued advocacy and innovation in service delivery are essential to address gaps in adult support systems and enhance long-term outcomes for individuals with ASD. Full article

Background: Children with Autism often face motor, sensory and communicational challenges that can hinder their participation in meaningful physical and social activities. This study explores the potential of Capoeira to support their development across these domains. Methods: This qualitative pilot study used semi-structured interviews with parents of children aged 7–15 with Autism Spectrum Disorder (ASD) who participated in group Capoeira programs. Data were analyzed through content categorization, leading to the development of thematic constructs. Results: Three central domains emerged regarding the perceived impact of Capoeira training on children with Autism: 1. Improvements in areas commonly affected in Autism, including sensory and auditory regulation, motor coordination, bodily awareness, compliance, and social communication. 2. Increased motivation, independence, sense of belonging and integration into mixed peer groups of typically developing (TD) children and children with ASD. 3. Broader developmental gains were also reported, such as increased self-confidence, initiative, awareness of others, and transfer of skills beyond the training context. Conclusions: The findings suggest that Capoeira may serve as an effective integrated intervention model, supporting physical and social development in children with ASD. Capoeira was reported to be associated with improved coordination, balance, body awareness, and gains in nonverbal interaction and social engagement, all within a collaborative, non-competitive framework. Future studies should explore the short and long-term impact of such interventions through quantitative outcome measures, as well as clarify the mechanisms that promote successful integration. Full article

Background: Hemiplegic cerebral palsy (HCP) is a motor dysfunction disorder resulting from perinatal developmental brain injury, predominantly impairing upper limb function in children. Nonetheless, there has been insufficient research on the brain activation patterns and inter-brain coordination mechanisms of HCP children when performing motor control tasks, especially in contrast to children with typical development(CD). Objective: This cross-sectional study employed functional near-infrared spectroscopy (fNIRS) to systematically compare the cerebral blood flow dynamics and brain network characteristics of HCP children and CD children while performing upper-limb mirror training tasks. Methods: The study ultimately included 14 HCP children and 28 CD children. fNIRS technology was utilized to record changes in oxygenated hemoglobin (HbO) signals in the bilateral prefrontal cortex (LPFC/RPFC) and motor cortex (LMC/RMC) of the subjects while they performed mirror training tasks. Generalized linear model (GLM) analysis was used to compare differences in activation intensity between HCP children and CD children in the prefrontal cortex and motor cortex. Finally, conditional Granger causality (GC) analysis was applied to construct a directed brain network model, enabling directional analysis of causal interactions between different brain regions. Results: Brain activation: HCP children showed weaker LPFC activation than CD children in the NMR task (t = −2.032, p = 0.049); enhanced LMC activation in the NML task (t = 2.202, p = 0.033); and reduced RMC activation in the MR task (t = −2.234, p = 0.031). Intragroup comparisons revealed significant differences in LMC activation between the NMR and NML tasks (M = −1.128 ± 2.764, t = −1.527, p = 0.025) and increased separation in RMC activation between the MR and ML tasks (M = −1.674 ± 2.584, t = −2.425, p = 0.031). Cortical effective connectivity: HCP group RPFC → RMC connectivity was weaker than that in CD children in the NMR/NML tasks (NMR: t = −2.491, p = 0.018; NML: t = −2.386, p = 0.023); RMC → LMC connectivity was weakened in the NMR task (t = −2.395, p = 0.022). Conclusions: This study reveals that children with HCP exhibit distinct abnormal characteristics in both cortical activation patterns and effective brain network connectivity during upper limb mirror training tasks, compared to children with CD. These characteristic alterations may reflect the neural mechanisms underlying motor control deficits in HCP children, involving deficits in prefrontal regulatory function and compensatory reorganization of the motor cortex. The identified fNIRS indicators provide new insights into understanding brain dysfunction in HCP and may offer objective evidence for research into personalized, precision-based neurorehabilitation intervention strategies. Full article

Background/Objectives: Autism Spectrum Disorder (ASD) presents complex developmental challenges that require coordinated, individualized interventions. This study aimed to evaluate the effectiveness of a transdisciplinary, family-centered approach in improving clinical and functional outcomes in children and adolescents with ASD. Methods: A longitudinal study was conducted with 53 participants aged 2 to 16 years, all with confirmed ASD diagnoses. Assessments were performed at baseline, 6 months, and 12 months. Participants received personalized, evidence-based interventions provided by a multidisciplinary team working within a transdisciplinary model. Therapies were delivered individually and in groups, with flexible intervention phases tailored to each participant’s evolving needs. Outcomes were measured using the Clinical Global Impression (CGI), Global Assessment of Functioning (GAF), and the Aberrant Behavior Checklist (ABC). Results: Clinical and functional improvements were observed over the 12-month period. Most participants reached high functional levels by the end of the study. Caregivers reported notable reductions in support needs, while therapist ratings confirmed more moderate improvements. Decreases in behavioral challenges, sensory difficulties, and sleep disturbances were observed, alongside gains in adaptability and functional play. Greater family involvement was associated with more favorable outcomes. Conclusions: A transdisciplinary, family-centered intervention model was beneficial in supporting developmental progress in children and adolescents with ASD. The findings highlight the importance of flexible, team-based care and emphasize the critical role of family engagement in achieving positive long-term outcomes. Full article