Developmental Disabilities Research Articles

Recurrent acute kidney injury is associated with delayed language development in infants with Congenital Heart Disease.

Neurodevelopmental delay is common in children who undergo surgery for Congenital Heart Disease (CHD) in infancy. Cardiac surgery associated acute kidney injury (CS-AKI) occurs frequently in the paediatric cardiac Intensive care unit (ICU). Cardiac surgery associated acute kidney injury (CS-AKI) is associated with worse neurodevelopmental scores and delay in cognitive, language, and motor domains in children with CHD. No known data exist regarding the association of CS-AKI and motor and language subscales. In this study, we explored the relationship between CS-AKI and receptive and expressive language, as well as gross and fine motor delay. This was a single centre retrospective observational cohort study. Children who underwent surgery for CHD and developed recurrent CS-AKI in the first year of life who had follow-up neurodevelopmental testing using the Bayley Scale of Infant Development Version III were included. Neurodevelopmental delay subscales assessed included: receptive and expressive language, fine and motor skills. The study cohort included 203 children. Recurrent CS-AKI was significantly associated with lower scores in receptive and expressive language, as well as fine and gross motor on unadjusted analyses. On adjusted analyses, recurrent CS-AKI was significantly associated with severe receptive language delay. The independent association of recurrent CS-AKI with severe language delay in children who undergo surgery for CHD in infancy is novel. Our findings may contribute to the understanding of language impairment in this population. Further studies are required to better understand this relationship and any potentially modifiable factors.

Impact of the Quality of Life Supports Model on the inclusion of students with disabilities in higher education: A scoping review

BackgroundThe Quality of Life Supports Model (QOLSM) is a well-suited framework for enhancing the inclusion of students with disabilities in higher education. No research aimed at assessing its impact has been identified. AimsThis review aims to map the scientific literature to assess the current impact of QOLSM on higher education. Methods and proceduresA Scoping Review of educational practices, policies, and cultures aimed at enhancing the quality of life for students with disabilities was conducted. Databases from EBSCOHost, ProQuest, and Scielo were employed to identify studies written in English or Spanish from 1978 to 2023. Four independent reviewers screened results for inclusion. Outcomes and resultsOut of 5361 records, 21 met the inclusion criteria. Students with developmental disabilities are the primary recipients of Quality-of-life support strategies. The reported educational practices were poorly aligned with the disability rights framework, the social-ecological model of disability, and the multidimensional Quality-of-Life construct. Specialized supports and mainstream settings were more common than generic supports and segregated settings. Conclusions and implicationsThis review highlights the currently limited impact of the QOLSM in fostering the inclusion of students with disabilities in higher education. Conducting a systematic review or meta-analysis is not recommended at this stage.

Combination of motor, sensory and affective tasks in an EEG paradigm for children with developmental disabilities

Individuals with neurodevelopmental disorders exhibit overlapping emotional, somatosensory and motor deficits. Although brain processes underlying these impairments have been extensively studied in a separate way, the brain interaction of these inputs is an innovative line of research. Here we present a new EEG methodology for exploring the interactive brain activity of sensorimotor and affective stimuli. The task consists in presenting affective stimuli of different modalities (e.g. affective pictures, affective touch) while simultaneously an arthromotor performs passive joint movements, unseen by the participant. Participants were then required to press one of two buttons to indicate if their joint position agreed with a picture shown in a screen. Pilot data of electroencephalography recordings revealed distinct somatosensory event-related potentials (SEP) when movement was subsequent to affective stimuli, compared to neutral stimuli, as well as a differentiation of SEPs for different neurodevelopmental conditions. Behavioral responses further showed that children with cerebral palsy had more errors to identify their hand position when they were exposed to affective stimuli. This paradigm is a valuable tool to explore the modulative influence of emotion in the sensorimotor brain processing of different populations with joint emotional and sensorimotor impairments, such as children with neurodevelopmental disorders or patients with stroke.•This method allows exploring the interaction between affective and sensoriomotor inputs in an EEG paradigm.

One-year follow-up of neurobehavioral therapy in functional seizures or epilepsy with traumatic brain injury: A nonrandomized controlled trial.

Patients with traumatic brain injury (TBI) often present with seizures (functional and/or epileptic), but treatments for patients with TBI and seizures are limited. We examined treatment phase and 1-year post-enrollment outcomes following neurobehavioral therapy (NBT) for patients with TBI + functional seizures (FS) and TBI + epilepsy. In this multicenter, prospective, three-group, nonrandomized, controlled trial, with 1-year post-enrollment follow-up, three cohorts of adults were recruited: TBI + video-electroencephalography (EEG)-confirmed FS (n = 89), TBI + EEG-confirmed epilepsy (n = 29), and chart/history-confirmed TBI without seizures (n = 75). Exclusion criteria were recent psychotic or self-injurious behavior, current suicidal ideation, pending litigation or long-term disability, active substance use disorder, and inability to participate in study procedures. TBI + FS and TBI + epilepsy groups completed NBT for seizures, an evidence-based, 12-session, multimodal psychotherapy, whereas TBI without seizures participants received standard medical care. The primary outcome was change in seizure frequency; secondary outcomes were changes in mental health, TBI-related symptoms, disability, and quality of life. Reductions in average monthly seizures occurred during treatment in TBI + FS participants (p = .002) and were significant from baseline (mean = 16.75; 95% confidence interval [CI] = 11.44-24.53) to 12 months post-enrollment (mean = 7.28, 95% CI = 4.37-12.13, p = .002, d = .38). Monthly seizures decreased during treatment in TBI + epilepsy participants (p = .002); reductions were not statistically significant from baseline (mean = 2.38, 95% CI = 1.12-5.04) to 12-month postenrollment (mean = .98, 95% CI = .40-2.42, p = .07, d = .22). Regarding treatment-phase changes in secondary outcome measures, TBI + FS participants improved significantly on 10 of 19 variables (52.6%), TBI + epilepsy participants improved on five of 19 (26.3%), and TBI-onlycomparisons improved on only one of 19 (5.3%). NBT benefited patients with TBI + FS and TBI + epilepsy. Improvements were demonstrated at 1 year post-enrollment in those with TBI + FS. NBT may be a clinically useful treatment for patients with seizures.

Neonatal Outcomes Following Maternal Antepartum Extracorporeal Life Support.

Cases of antepartum respiratory failure or cardiogenic shock treated successfully with extracorporeal life support (ECLS) with high rates of survival for both mother and fetus are well documented. In contrast, there is a paucity of literature on the outcomes of these neonates after delivery. We report a single-center retrospective study of all adult cases of antepartum ECLS from February 2015 to April 2023 with neonatal follow-up. Seven patients met inclusion criteria with a maternal age of 32.0±5.5 years (median ± interquartile range [IQR]), primarily due to respiratory failure in six (86%) patients, with ECLS initiation at 27.0±3.0 weeks gestation. All mothers and fetuses survived to delivery at a gestational age of 29.0±4.5 weeks. All neonates survived to discharge home with the most common comorbidities being prematurity in seven (100%) patients and bronchopulmonary dysplasia in three (43%). In a follow-up period of 1.4±1.2 years; four (57%) patients underwent formal neurodevelopmental testing and two (50%) had identified delays, both related to speech/language. These results suggest that children exposed to antenatal ECLS demonstrate high rates of survival without significant morbidity, but that follow-up for neurodevelopmental delays may be warranted.

Developmental and epileptic encephalopathy 56 due to YWHAG variants: 12 new cases and review of the literature

Background and objectivesDevelopmental and epileptic encephalopathy 56 (DEE-56) is caused by pathogenic variants in YWHAG and is characterized by early-onset epilepsy and neurodevelopmental delay. This study reports on a cohort of DEE-56 individuals, correlating antiseizure medication usage and comorbidities, to aid in understanding disease evolution. MethodsWe analyzed data from thirty-nine individuals aged 3–40 years with YWHAG variants, including 12 previously unreported individuals (2 of these with recurrent distal 7q11.23 deletions) and 27 previously published cases (21 families, including 3 adult individuals reported in a family case). Our assessments encompassed clinical, radiological, and genetic evaluations. All procedures adhered to standardized protocols for patient approvals, registrations, and data collection. ResultsIndividuals with YWHAG variants exhibited variable psychomotor delay, with the majority experiencing mild intellectual disability. Early-onset seizures, particularly febrile seizures, were common, with various seizure types reported. Valproic acid has emerged as an effective antiseizure medication. Movement disorders were present in a subset of individuals, primarily manifesting as ataxia and tremor. Comorbidities such as autism spectrum disorders and attention deficit-hyperreactivity disorder were observed in a proportion of individuals. We identified a novel YWHAG variant (c.634_645del/p.Asn212_Ser215del) and expanded the genotypic spectrum of the disease. ConclusionsWe provide insights into the clinical, radiological, and genetic features of YWHAG-related epileptic encephalopathy. Despite mild clinical symptoms, affected individuals face challenges in daily functioning, underscoring the need for comprehensive care. Valproic acid has been used for seizure control with variable results.

The preventive health management self-efficacy related to preterm labor scale in reproductive-aged women: Validation of Turkish reliability and factor structure.

This study aims to test and adapt the Turkish psychometric properties of the preventive health management self-efficacy related to premature labor (PHMSE-PL) scale for women of reproductive age. The study follows a methodological approach. The original scale comprises 34 items distributed across 5 subscales and is structured on a five-point Likert scale. The study sample consisted of 351 women aged 19 to 49, all without any physical or mental disabilities, irrespective of marital status or pregnancy status. Exclusion criteria encompassed women engaged in healthcare professions such as medical faculty, nursing, or midwifery, as well as those with a history of preterm birth during pregnancy. During the validity assessment of the scale, language, content, and construct validity were scrutinized. In the reliability phase, internal consistency and stability over time -analyses were conducted. Following confirmation of language validity, all items achieved a content validity index value exceeding 0.80. Exploratory and confirmatory factor analyses were employed to assess structural validity, revealing that the scale retained its original grouping into five sub-factors. These factors collectively accounted for 81.5% of the variance. The Cronbach's alpha coefficient for the entire scale reached 0.98, indicating high internal consistency. Test-retest analyses yielded a correlation coefficient of 0.99 between overall scale scores, demonstrating excellent consistency between the two measurement measurements. The PHMSE-PL scale adapted to Turkish culture demonstrated high levels of validity and reliability.

Exposure to PFOA, PFOS, and PFHxS induces Alzheimer's disease-like neuropathology in cerebral organoids

Per- and polyfluoroalkyl substances (PFASs), a class of ubiquitous synthetic organic chemicals, are widely utilized across various industrial applications. However, the long-term neurological health effects of PFAS mixture exposure in humans remain poorly understood. To address this gap, we have designed a comprehensive study to predict and validate cell-type-specific neurotoxicity of PFASs using single-cell RNA sequencing (scRNA-seq) and cerebral organoids. Cerebral organoids were exposed to a PFAS mixture at concentrations of 1 × (10 ng/ml PFOS and PFOA, and 1 ng/ml PFHxS), 30 × , and 900 × over 35 days, with a follow-up analysis at day 70. Pathological alterations and lipidomic profiles were analyzed to identify disrupted molecular pathways and mechanisms. The scRNA-seq data revealed a significant impact of PFASs on neurons, suggesting a potential role in Alzheimer's Disease (AD) pathology, as well as intellectual and cognitive impairments. PFAS-treated cerebral organoids exhibited Aβ accumulation and tau phosphorylation. Lipidomic analyses further revealed lipid disturbances in response to PFAS mixture exposure, linking PFAS-induced AD-like neuropathology to sphingolipid metabolism disruption. Collectively, our findings provide novel insights into the PFAS-induced neurotoxicity, highlighting the significance of sphingolipid metabolism in the development of AD-like neuropathology. The use of cerebral organoids and scRNA-seq offers a powerful methodology for evaluating the health risks associated with environmental contaminants, particularly those with neurotoxic potential.

Vulnerability to depression and resolution in mothers of children with cerebral palsy

BackgroundThis study investigated associations between Self-Criticism and Dependency as factors of vulnerability to depression and maternal resolution. Resolution entails parental cognitive and emotional acceptance of the child's developmental disability. MethodsOur sample included 100 mothers whose children had a diagnosis of cerebral palsy. The Reaction to Diagnosis Interview, the Depressive Experiences Questionnaire and the Depression Scale were administered. ResultsThe results showed that unresolved mothers scored higher on the dimensions of Self-Criticism and Dependency compared to their resolved counterparts. The hierarchical cluster analysis yielded three maternal profiles based on the scores obtained on the dimensions of vulnerability to depression, regardless of maternal resolution status. The first profile was labeled Low Vulnerability and was characterized by low scores on Self-Criticism and Dependency. The second profile was labeled Dependent and it included mothers with higher scores on Dependency and lower scores on Self-Criticism. The third profile comprised mothers with higher scores on both Self-Criticism and Dependency. The smallest proportion of unresolved mothers belonged to the third, most vulnerable profile labeled Double Vulnerability. DiscussionWe discussed the implications of the obtained results in light of a need for psychotherapeutic interventions that would focus on individual differences when providing support to parental resolution.

Advancing knowledge about criminal justice and mental health

Advancing knowledge about criminal justice and mental health Researchers with expertise in criminal law, philosophy, psychiatry and psychology are combining their knowledge to explore how mental disorders are approached within criminal law and contribute to better legal and forensic practices. Current criminal justice systems are based on the premise that human beings are responsible agents that can be held accountable for their actions. However, most criminal justice systems have legal doctrines recognising that there are exceptions when an individual should not be considered criminally accountable. A ubiquitous practice is that children under the minimum age of criminal responsibility are not subject to punishment. Similarly, most countries limit criminal responsibility for offenders with mental disorders and disabilities. However, the question of who should be held criminally accountable and who should not is highly controversial, and a subject of debate. The same applies to what role psychological and psychiatric experts should have in criminal proceedings.

Access to dental care among individuals with intellectual and developmental disabilities in India: A scoping review.

Individuals with intellectual and developmental disabilities (IDDs) face numerous challenges in accessing dental care. Despite difficulties, more evidence exploring difficulties among this cohort in India is needed. This study aims to conduct a scoping review of articles published in India exploring access to dental care among individuals with IDD. We followed the Arksey O'Malley framework for scoping reviews and the PRISMA guidelines for reporting studies. Findings were analyzed based on Levesque's framework for access. Seventeen articles were collated from five databases. The perceived need for dental care was low, and dental visits were mainly need-based and infrequent. Knowledge regarding dental care did not translate to dental visits. Patient-related barriers were cost, transportation difficulties, fear, lack of dentist skills, patient behavior, and cooperation. From the providers' perspective, most dentists were willing to treat but noted infrastructural and knowledge-based limitations. Access to dental care was limited due to infrastructure constraints and a lack of dentist training. Caregivers and individuals with IDD did not prioritize dental health, faced communication barriers, and were afraid of dental procedures. It is important to improve preventive dental care and raise awareness among caregivers of individuals with IDD in India. Training dentists and incorporating special care dentistry into the standard dental curriculum will improve access.

Impact of LEGO® Based Therapy on Skills Development and Quality of Life in People with Neurodevelopmental Disorders.

This research sets out to evaluate the impact of LEGO® Based Therapy on the development of skills and quality of life for people with neurodevelopmental disorders, as well as for those close to them. Widely used in the United States and the United Kingdom for almost 20 years, LEGO® Based Therapy was developed by Daniel Le Goff, psychologist licensed in Florida and New Jersey who has practiced for over 20 years with children, adolescents and adults with developmental disabilities, including autism, Asperger's syndrome and congenital disabilities, as well as acquired and traumatic brain injuries. Daniel Le Goff has extensive experience as a consultant and expert witness, as well as in direct clinical services, including applied behaviour analysis, cognitive behaviour therapy and cognitive rehabilitation. In 2008, Gina Gómez de la Cuesta completed her PhD at the Centre for Autism Research at the University of Cambridge, where she led and evaluated LEGO®® Based Therapy under the supervision of Daniel LEGO®ff, Simon Baron-Cohen and Ayla Humphrey. She is a teacher and psychologist by training and has worked at the National Autistic Society as Head of Action Research. She founded Play Included in 2018, with support from the Cambridge Social Ventures incubator programme, University of Cambridge to support children's development through play and promote LEGO®Therapy. Initially designed to improve the social skills of people with autism spectrum disorders but no intellectual disabilities, its effectiveness has been demonstrated by studies targeting this specific population. However, no research has yet been carried out in France on its application to a wider population, including various forms of neurodevelopmental disorder. Furthermore, existing studies have not considered the impact on the quality of life of beneficiaries and their families, which this thesis sets out to examine.

Evaluation of an Australian community‐based model of care for adults with intellectual and developmental disabilities undergoing procedures under sedation

AbstractBackgroundAdults with intellectual and developmental disabilities (IDDs) have higher healthcare needs, but experience difficulties accessing preventative healthcare. Despite this inequity, models of care that address barriers and provide customized treatment are limited, exacerbating vulnerabilities and poorer health outcomes. This study describes the development of a procedural model of care (PMOC) for adults with intellectual and developmental disabilities, and evaluates the sedation tier, exploring procedure and sedation outcomes.MethodsDevelopment of the PMOC was informed by current evidence and themes identified in stakeholder consultation and literature. A retrospective cohort study evaluated the sedation option within the model, conducted at a community‐based disability service in Melbourne, Australia. All records over a 14‐month period were included. Descriptive statistics and univariate logistic regression analysis were used to analyze data.ResultsThe PMOC includes assessment, intervention, and evaluation tiers. Intervention options range from least to most invasive, culminating in the sedation level (mild; oral psychoactive, moderate; midazolam and nitrous oxide, high; general anesthetic). A total of 127 adults with IDDs received procedures under sedation; median age was 26 years, 61% lived with family, and 81% had multiple disabilities. A total of 197 procedures were referred to CDDH, including immunization (61%) and oral health reviews (23%), and resulted in 98% completion rate. Mild (n = 36) and moderate (n = 95) sedation were used for 67% of procedures. The PMOC correctly predicted 91% of sedation requirements. Living with family (OR 2.211, 95% CI 1.001–4.885, p = 0.05); immunization (OR 7.935, 95% CI 4.025–15.644, p <0.001); and multiple disabilities (OR 3.064, 95% CI 1.123–8.362, p = 0.029) were associated with mild, moderate and high sedation options, respectively.ConclusionsModels of care offering individualized interventions can support adults with IDDs to receive preventative procedures. Demographic variables may be able to predict sedation requirements. Wider application of this model may reduce health inequity within this vulnerable population.

Program evaluation of a specialized treatment home for adults with severe challenging behavior

AbstractIndividuals with intellectual and developmental disabilities who engage in severe challenging behavior may comprise 5%–10% of the clinical population. Unfortunately, challenging behavior literature tends to underrepresent adult participants and emphasize efficacy (Does the intervention work?) more often than effectiveness (Does the intervention work in real world settings?). We conducted a systematic program evaluation to examine the effectiveness of a comprehensive behavioral treatment package using a hybrid quasi‐experimental consecutive case series design featuring eight adults who experienced the treatment package. The results depicted a substantial decrease in challenging behavior and increase in adaptive behavior across sessions for most participants. Impressive treatment integrity outcomes (M = 84%, range, 82%–90%) showcased that the intervention was implemented as intended. Social validity surveys administered to participants, caregivers, and case managers provide support for the acceptability of the treatment package. Project limitations, clinical considerations, and future directions are discussed.

Comprehensive molecular and clinical findings in 29 patients with multi-locus imprinting disturbance

BackgroundMulti-locus imprinting disturbance (MLID) with methylation defects in various differentially methylated regions (DMRs) has recently been identified in approximately 150 cases with imprinting disorders (IDs), and deleterious variants have been found in genes related to methylation maintenance of DMRs, such as those encoding proteins constructing the subcortical maternal complex (SCMC), in a small fraction of patients and/or their mothers. However, integrated methylation analysis for DMRs and sequence analysis for MLID-causative genes in MLID cases and their mothers have been performed only in a single study focusing on Beckwith-Wiedemann syndrome (BWS) and Silver-Russell syndrome (SRS) phenotypes.ResultsOf 783 patients with various IDs we have identified to date, we examined a total of 386 patients with confirmed epimutation and 71 patients with epimutation or uniparental disomy. Consequently, we identified MLID in 29 patients with epimutation confirmed by methylation analysis for multiple ID-associated DMRs using pyrosequencing and/or methylation-specific multiple ligation-dependent probe amplification. MLID was detected in approximately 12% of patients with BWS phenotype and approximately 5% of patients with SRS phenotype, but not in patients with Kagami-Ogata syndrome, Prader-Willi syndrome, or Angelman syndrome phenotypes. We next conducted array-based methylation analysis for 78 DMRs and whole-exome sequencing in the 29 patients, revealing hypomethylation-dominant aberrant methylation patterns in various DMRs of all the patients, eight probably deleterious variants in genes for SCMC in the mothers of patients, and one homozygous deleterious variant in ZNF445 in one patient. These variants did not show gene-specific methylation disturbance patterns. Clinically, neurodevelopmental delay and/or intellectual developmental disorder (ND/IDD) was observed in about half of the MLID patients, with no association with the identified methylation disturbance patterns and genetic variants. Notably, seven patients with BWS phenotype were conceived by assisted reproductive technology (ART).ConclusionsThe frequency of MLID was 7.5% (29/386) in IDs caused by confirmed epimutation. Furthermore, we revealed diverse patterns of hypomethylation-dominant methylation defects, nine deleterious variants, ND/IDD complications in about half of the MLID patients, and a high frequency of MLID in ART-conceived patients.

Unpacking the care-related quality of life effect of England's publicly funded adult social care. A panel data analysis.

Adult Social Care (ASC) is the publicly-funded long-term care program in England that provides support with activities of daily living to people experiencing mental and/or physical challenges. Existing evidence suggests that ASC expenditure improves service users' care-related quality of life (CRQoL). However, less is known about the channels through which this effect exists and the effect on outcomes other than CRQoL. We fill this gap by analyzing survey data on ASC service users who received long-term support from 2014/15 to 2019/20 using panel data instrumental variable methods. We find that the beneficial impact of ASC expenditure on the CRQoL of both new and existing users is mostly driven by users aged 18-64 without any learning disability and users with no learning disability aged 65 or older receiving community-based ASC. Moreover, control over daily life, occupation, and social participation are the CRQoL domains that are improved the most. We also find that ASC expenditure has a beneficial effect on several other outcomes beyond CRQoL for both new and existing users including user satisfaction and experience, the ability to carry out activities of daily living independently, whether their home is designed around needs, accessibility to local places, general health, and mental health through reduced anxiety and depression. Greater ASC expenditure, however, does not address the need for other forms of support such as unpaid informal and privately-funded care.

Mapping the Fetal Alcohol Spectrum Disorder Continuum of Care Across the Military Health System.

Although a leading cause of developmental disability in the United States, many individuals with fetal alcohol spectrum disorders (FASDs) do not receive a timely diagnosis, are misdiagnosed, or are never diagnosed. Prevention, diagnosis, and clinical management of FASD have not been previously studied in the U.S. Military Health System (MHS), where nearly 1 million of the nation's children receive health care. To address this gap, we undertook an environmental scan of the clinical guidelines, services, programs, educational resources, and policies within the MHS pertaining to alcohol use (AU), AU disorder (AUD), prenatal alcohol exposure, and FASD. From March to June 2023, we undertook an environmental scan of MHS clinical guidelines, services, programs, educational resources, and policies that address AU, AUD, prenatal alcohol exposure, and FASD. We identified multiple resources that attended to AU and AUD before and during pregnancy in the MHS. However, despite numerous resources for other neurodevelopmental disorders, we did not find any MHS-specific resources that address diagnosis and management of FASD. Findings suggest opportunities to raise awareness, educate providers, and improve guidelines, policies, and practices in the MHS.

Sotos Syndrome: Deep Neuroimaging Phenotyping Reveals a High Prevalence of Malformations of Cortical Development.

Sotos syndrome is a rare autosomal dominant condition caused by pathogenic mutations in the NSD1 gene that presents with craniofacial dysmorphism, overgrowth, seizures, and neurodevelopmental delay. Macrocephaly, ventriculomegaly, and corpus callosal dysmorphism are typical neuroimaging features that have been described in the medical literature. The purpose of this study was to expand on the neuroimaging phenotype by detailed analysis of a large cohort of patients with genetically proved Sotos syndrome. This multicenter, multinational, retrospective observational cohort study systematically analyzed the clinical characteristics and neuroimaging features of 77 individuals with genetically diagnosed Sotos syndrome, via central consensus review with 3 pediatric neuroradiologists. In addition to previously described features, malformations of cortical development were identified in most patients (95.0%), typically dysgyria (92.2%) and polymicrogyria (22.1%), varying in location and distribution. Incomplete rotation of the hippocampus was observed in 50.6% of patients and was associated with other imaging findings, in particular with dysgyria (100% versus 84.2%, P = .012). Our findings show a link between the genetic-biochemical basis and the neuroimaging features and aid in better understanding the underlying clinical manifestations and possible treatment options. These findings have yet to be described to this extent and correspond with recent studies that show that NSD1 participates in brain development and has interactions with other known relevant genetic pathways.

THE TRANSFORMATIVE IMPACT OF JUDO ON ATHLETES WITH DISABILITIES: INCLUSION, ADAPTATION, AND PERFORMANCE INSIGHTS

Judo is celebrated for its inclusivity and adaptability, offering significant benefits for athletes with disabilities (PwD). It fosters physical, emotional, social, and cognitive growth, enhancing motor skills, coordination, and balance. For athletes with physical disabilities, mastering techniques such as falling safely promotes strength and agility. Moreover, engaging in judo boosts self-esteem and confidence as athletes achieve milestones like advancing through belt ranks and earning medals. The supportive environment encourages personal accomplishment and helps develop social skills through interaction with peers. Research highlights the diverse range of disabilities in judo, including visual, auditory, and intellectual impairments. Studies by Oblak et al. (2020) reveal the therapeutic benefits of judo for individuals with intellectual disabilities, emphasizing the need for more research in this area. Bocioacă and Marin (2023) explore the role of adapted judo for individuals with Autism Spectrum Disorder (ASD) and Down syndrome, demonstrating improvements in integration skills through tailored practices. Additional research by Kons et al. (2021) and Krabben et al. (2017) addresses the dynamics of Paralympic judo, revealing challenges related to classification systems for visually impaired athletes. Kons et al. (2022) identify a concerning rise in injury rates among judo athletes with disabilities, indicating the need for improved safety measures. Lastly, the comparative study of neuromuscular control by Kons et al. (2019) shows that visually impaired judokas can excel in balance and certain strength metrics. Overall, these studies underscore judo’s role in promoting physical development and social integration for PwD, while also highlighting the need for further research to ensure equitable and inclusive practices in the sport.

Подготовка к трудовой деятельности молодежи с психическими нарушениями в рамках гастрономической модельной площадки (ГАМП): оценка эффективности программы обучения

<p>This article presents a comprehensive study on the efficiency of a cooking skills training program for young adults with mental disabilities, conducted at the Gastronomic Model Platform (GAMP) of the Regional Non-commercial Organization "Center for Curative Pedagogy". The study hypothesized that this training would enhance the professional skills and life independence of students with mental disorders, facilitating successful employment and participation in work activities. Twenty-three GAMP students with varying levels of mental disabilities participated in a pre-post test study to assess changes in professional competencies and independence. The results confirmed the hypothesis regarding the improvement of professional skills during the GAMP training process (t(21)=-2,97; p=0,007). However, while indicators of independence significantly increased for some students, the overall hypothesis of increased independence was not statistically confirmed. This may be attributed to the fact that individuals with severe disabilities often show improvements in independence primarily in familiar environments and with the support of an accompanying person.</p>