Intellectual Disability Research Articles

Social and pedagogical assistance to adolescents with intellectual disabilities

Importance. One of the pressing problems of correctional psychological and pedagogical assistance to children with intellectual developmental disabilities is the possibility of early initiation of correction and the choice of effective correctional and developmental methods for the purpose of their maximum socialization. Purpose of the study: orrectional and developmental activities introduction into adaptive physical education classes to increase the social adaptation level of adolescents 14–15 years old with mild mental disability.Materials and Methods. 20 teenagers aged 14–15 years with mild mental disability, studying in a correctional school of type VIII, took part in the pedagogical experiment. Two groups are formed: a control group, studying according to a standard program for people with disabilities, and an experimental group, in which, as part of pedagogical control, 30 correctional and developmental classes, 30 minutes each, are conducted 1–2 times a week, as part of adaptive physical education classes. The tools for assessing the effectiveness of the correctional classes are: determination of the group cohesion index using K.E. Sishor’s psychometric test, determining the aggressiveness level using Bass–Darki’s questionnaire, assessing communication skills using B.A. Fedorishin’s assessment.Results and Discussion. Corrective and developmental activities carried out during adaptive physical education classes had a positive impact on the communication abilities development in adolescents aged 14–15 years with mild mental disability. After conducting a pedagogical experiment, adolescents in the experimental group significantly improved the average diagnostic test scores (p ˂ 0.05) on the following tests: K.E. Sishor’s psychometric test, B.A. Fedorishin’s communicative inclinations assessment, Bass–Darki’s questionnaire.Conclusion. The introduction of developed correctional and educational activities into the adaptive physical education classes program made it possible to increase the social adaptation level of adolescents 14–15 years old with mild mental disability.

Regional differences in autism and intellectual disability risk associated with cesarean section delivery.

Prior epidemiological studies investigating the association between delivery mode (i.e., vaginal birth and cesarean section [C-section]) and autism spectrum disorder (ASD) and intellectual disability (ID) risk have reported mixed findings. This study examined ASD and ID risks associated with primary and repeat C-section within diverse US regions. During even years 2000-2016, 8-years-olds were identified with ASD and/or ID and matched to birth records [ASD only (N = 8566, 83.6% male), ASD + ID (N = 3445, 79.5% male), ID only (N = 6158, 60.8% male)] using the Centers for Disease Control and Prevention's Autism and Developmental Disabilities Monitoring Network methodology. The comparison birth cohort (N = 1,456,914, 51.1% male) comprised all births recorded in the National Center for Health Statistics corresponding to birth years and counties in which surveillance occurred. C-section rates in the birth cohort demonstrated significant regional variation with lowest rates in the West. Overall models demonstrate increased odds of disability associated with primary and repeat C-section. Adjusted models, stratified by region, identified significant variability in disability likelihood associated with repeat C-section: increased odds occurred for all case groups in the Southeast, for ASD only and ID only in the Mid-Atlantic, and no case groups in the West. Regional variability in disability risk associated with repeat C-section coincides with differences in birth cohorts' C-section rates. This suggests increased likelihood of disability is not incurred by the procedure itself, but rather C-section serves as a proxy for exposures with regional variability that influence fetal development and C-section rates.

Characterization of Two Novel PNKP Splice-Site Variants in a Proband With Microcephaly, Intellectual Disability, and Multiple Malformations.

Polynucleotide kinase phosphatase (PNKP), encoded by the PNKP gene, is a DNA processing enzyme involved in double-strand break and single-strand break repair pathways, which are essential for genome stability and for the correct development and maintenance of human nervous system. PNKP biallelic loss-of-function variants have been associated with a broad spectrum of neurological anomalies, ranging from congenital microcephaly with intellectual disability and seizures (MCSZ), to later onset forms of ataxia-oculomotor apraxia (AOA4) or peripheral neuropathy (CMT2B2). We report the atypical clinical manifestations of a patient with severe microcephaly, short stature, developmental delay, conductive hearing loss, and tracheoesophageal malformation, in the absence of seizures. Whole exome sequencing analysis identified two novel, compound heterozygous splice-site variants in the PNKP gene (NM_007254.4): c.1448+1G > A and c.199-8_199-5del. To demonstrate the effect of both variants on the splicing process and prove their pathogenicity, we performed a hybrid minigene assay, which successfully highlighted a deleterious impact on the transcript, particularly regarding the c.199-8_199-5del variant. The uncommon clinical features of the proband and the identification of two newly associated pathogenic variants add further evidence to the allelic and phenotypic heterogeneity of the PNKP locus.

Language Profiles of School-Age Children With 16p11.2 Copy Number Variants in a Clinically Ascertained Cohort.

Individuals with proximal 16p11.2 copy number variants (CNVs), either deletions (16p11.2DS) or duplications (16p11.2Dup), are predisposed to neurodevelopmental difficulties and disorders, such as language disorders, intellectual disability, and autism spectrum disorder. The purpose of the current study was to characterize language profiles of school-age children with proximal 16p11.2 CNVs, in relation to the normative sample and unaffected siblings of children with 16p11.2DS. Standardized language tests were conducted in 33 school-age children with BP4-BP5 16p11.2 CNVs and eight unaffected siblings of children with 16p11.2DS to evaluate language production and comprehension skills across various language domains. A standardized intelligence test was also administered, and parents completed a standardized questionnaire to assess autistic traits. Language profiles were compared across 16p11.2 CNVs and intrafamilial pairs. The influence of nonverbal intelligence and autistic traits on language outcomes was investigated. No significant differences were found between children with 16p11.2DS and those with 16p11.2Dup, although both groups exhibited significantly poorer language skills compared to the normative sample and unaffected siblings of children with 16p11.2DS. Severe language deficits were identified in 70% of individuals with 16p11.2 CNVs across all language subdomains, with significantly better receptive vocabulary skills than overall receptive language abilities. In children with 16p11.2DS, expressive language deficits were more pronounced than receptive deficits. In contrast, only in children with 16p11.2Dup did nonverbal intelligence influence their language outcomes. The current study contributes to the deeper understanding of language profiles in 16p11.2 CNVs in a clinically ascertained cohort, indicating generalized deficits across multiple language domains, rather than a syndrome-specific pattern targeting specific subdomains. The findings underscore the importance of early diagnosis, targeted therapy, and monitoring of language skills in children with 16p11.2 CNVs. https://doi.org/10.23641/asha.27228702.

Neurodevelopmental outcomes in children prenatally exposed to opioid maintenance treatment: A population-based study.

Opioid maintenance treatment (OMT), with methadone or buprenorphine, is a key approach for managing opioid use disorder (OUD) during pregnancy. Despite buprenorphine's superior short-term outcomes, its long-term effects remain understudied. This study aims to evaluate the effects of prenatal OMT exposure on the incidence of childhood neurodevelopmental disorders (NDDs) considering timing effect. A retrospective cohort study using Rhode Island Medicaid data linked to vital statistics from 2008 to 2018 was conducted. The study included pregnancies having live birth from 2008 to 2016 with continuous Medicaid insurance and OUD diagnosis within 3 months preceding conception until delivery. At least one buprenorphine dispensing or a claim of methadone was required for exposure definition. Exposure was evaluated during early (0-90 days) or late (>90 days) gestation, or at any pregnancy phase. NDDs, including autism, attention-deficit/hyperactivity disorder (ADHD), learning disabilities, speech/language disorders, developmental coordination disorder, intellectual disability, and behavioral disorders, were identified using validated algorithms. Applying Cox proportional-hazard models with propensity score overlap weighting, adjusted hazard ratios (aHR) were calculated, mitigating potential confounders. Children were followed up from birth until NDD diagnosis, disenrollment, or study end. Of 416 mother-child dyads with OUD, 40% used methadone and 20% had buprenorphine exposure during pregnancy. NDDs were observed in 36% of children with early methadone exposure compared to 17% in the early buprenorphine exposed group (aHR: 2.75; 95% confidence interval [CI]: 1.42-5.35). Further comparison to late buprenorphine exposure, late methadone exposure was associated with higher NDD risk (aHR: 2.05; 95% CI: 1.09-3.86). Compared to unexposed group, children exposed to methadone during early and late periods showed higher NDD incidences (aHR: 2.33; 95% CI: 1.51-3.60 and aHR: 2.42; 95% CI: 1.54-3.80, respectively). The study suggests that buprenorphine is a good treatment option for OUD during pregnancy due to minimal long-term neurodevelopmental impacts on children. However, further extensive research is necessary to rule-out potential confounding.

Exploring practice leadership in intellectual disability services: a concept analysis

Exploring practice leadership in intellectual disability services: a concept analysis

Novel Corrector for Variants of SLC6A8: A Therapeutic Opportunity for Creatine Transporter Deficiency.

Mutations in creatine transporter SLC6A8 cause creatine transporter deficiency (CTD), which is responsible for 2% of all cases of X-linked intellectual disability. CTD has no current treatments and has a high unmet medical need. Inspired by the transformational therapeutic impact of small molecule "correctors" for the treatment of cystic fibrosis, which bind to mutated versions of the CFTR ion channel to promote its trafficking to the cell surface, we sought to identify small molecules that could stabilize SLC6A8 as a potential treatment for CTD. We leveraged a novel chemoproteomic technology for ligand discovery, reactive affinity probe interaction discovery, to identify small-molecule fragments with photoaffinity handles that bind to SLC6A8 in a cellular environment. We synthesized a library of irreversible covalent analogs of these molecules to characterize in functional assays, which revealed molecules that could promote the trafficking of mutant SLC6A8 variants to the cell surface. Further medicinal chemistry was able to identify reversible drug-like small molecules that both promoted trafficking of the transporter and also rescued creatine uptake. When profiled across the 27 most prevalent SLC6A8 missense variants, we found that 10-20% of patient mutations were amenable to correction by our molecules. These results were verified in an endogenous setting using the CRISPR knock-in of selected missense alleles. We established in vivo proof-of-mechanism for correctors in a novel CTD mouse model with the P544L patient-defined variant knocked in to the SLC6A8 locus, where treatment with our orally bioavailable and brain penetrant tool corrector increased brain creatine levels in heterozygous female mice, validating correctors as a potential therapeutic approach for CTD.

Investigation on Understanding the Numeracy Capacity of Intellectual Disabled Students using Enabling Technology Tools: Web Application, AR and UI/UX

The population of individuals with intellectual disabilities (ID) is increasing, necessitating assistance with a wide range of daily activities. Acquiring and assessing numeracy and communication skills are critical for this demographic, requiring tools and techniques tailored to their specific needs. Effective educational tools must employ multi-modal and multi-sensory approaches to cater to diverse learning styles and incorporate assistive technological solutions. Despite the availability of numerous tools, there is a need to enhance their utility and effectiveness. This study aims to identify and refine the requirements for an innovative educational tool that employs Two-dimensional (2D) and Augmented Reality (AR) technologies. To achieve this, we conducted semi-structured interviews and surveys with teachers working with students with ID, gaining insights into the current solutions, advantages, and limitations. Additionally, we used physical props as design probes in a co-design methodology to better understand and elicit the true needs of individuals with ID. The findings from this research will inform the development of a 2D/AR tool designed to make learning mathematics more engaging and effective for individuals with ID, contributing to the advancement of inclusive education practices. Enabling Technology plays a significant role in the numeracy ability among people with ID. Generative AI and Explainable AI shall further improve learning ability in the years to come.

Stress in social and health care professionals working with people with intellectual disabilities: risk and protective factors

Objectives Those working in the field of intellectual disabilities are confronted with a multitude of stressors, which can give rise to considerable psychological difficulties. The objective of this study was to identify the key predictors of perceived and relational stress among professionals working in intellectual disability centers. Methods A cross-sectional design was employed, with 726 professionals participating (mean age = 43.35 years, SD = 11.19), predominantly women (78.6%). The variables assessed included perceived stress, relational stress, emotional balance, life satisfaction, social support, empathy, and counseling training. The analysis was conducted using structural equation modeling and qualitative-comparative analysis of fuzzy data (QCA). Results The study revealed that the stress levels of the study participants were moderate to low. The relationship between emotional balance and stress was mediated by life satisfaction. In both structural equation models, negative affect and life satisfaction were identified as primary predictors, significantly influencing perceived and relational stress. Additionally, QCA highlighted that empathy and social support, along with these factors, contribute to explaining stress levels. Conclusions Our findings highlight the necessity of implementing preventive strategies and support systems to mitigate stress among healthcare professionals who work with individuals with intellectual disabilities. These findings contribute to the existing body of knowledge regarding stress management in this specialized healthcare context.

An Adapted Physical Activity Program for Adolescents with an Intellectual Disability: An International Classification of Functioning, Disability, and Health Perspective.

The International Classification of Functioning, Disability, and Health (ICF) offers a comprehensive bio-psycho-social model for evaluating the multifaceted needs of individuals with disabilities. While its adoption in healthcare settings is widespread, its utilization within the domain of physical activity interventions, particularly for adolescents with intellectual disabilities (IDs), remains insufficiently explored. This study rigorously examines the efficacy of a 6-month ICF-based Adaptive Physical Activity (APA) intervention on the development of fundamental motor skills (FMSs), improvements in physical fitness (PF), and enhancements in quality of life (QoL) among adolescents with ID. A total of thirty-eight adolescents were randomly allocated into either an intervention group (IG), which participated in the tailored APA program, or a control group (CG), which received standard physical education. The findings demonstrated statistically significant improvements in the IG's test of gross motor development (TGMD) total, locomotor, object control, and QOL scores relative to the CG (p < 0.001, η² = 0.330, 0.249, 0.224, and 0.439, respectively). Furthermore, substantial gains were observed in PF measures, including upper and lower limb strength as well as cardiorespiratory fitness (p < 0.001, η² = 0.254, 0.351, 0.176). Strong positive correlations were noted between FMS, PF, and QoL (r = 0.34-0.71, p < 0.05). This study underscores the importance of tailoring physical activity programs for adolescents with ID, offering insights into the relationships between FMS, PF, and QoL, and guidance for future interventions aimed at improving health outcomes in this population.

Co-construction of an instructional module to improve the understanding of cancer screening by people with intellectual disabilities: Strategic choices

ObjectivePeople with intellectual disabilities (ID) have difficulty in accessing oral or written health information presented in a conventional manner what compromises prevention. This study aims to develop accessible information on breast, cervical and colorectal cancer screening for people with ID. MethodThe instructional material has been developed collaboratively by a team involving representatives from different scientific disciplines (medical and psychoeducational) and people with ID. Five principles guided its elaboration, i.e. coconstruction, multimodality, phasing, socio-cognitivism and accessibility. ResultsThe material created is a 5-component module including a 20-minute easy-toread and understand oral presentation with a slideshow, a workshop that encourages manipulation and discussion, a booklet to take away, a film to consolidate information and a questionnaire. ConclusionProviding accessible information is considered a key action in reestablishing equality in access to cancer health care and preventing a cascade of consequences. The co-construction of the module ensures its social and ecological validity. An interventional study is underway to verify its efficacy. Practical implicationThe best practices for cancer prevention endorse spending enough time to discuss screening. This accessible module can be used to provide people with ID basic information about screening, increase their adherence, and facilitate the discussion on this issue.

Altered tubulin detyrosination due to SVBP malfunction induces cytokinesis failure and senescence, underlying a complex hereditary spastic paraplegia.

Senescence, marked by permanent cell cycle arrest may contribute to the decline in regenerative potential and neuronal function, thereby promoting neurodegenerative disorders. In this study, we employed whole exome sequencing to identify a previously unreported biallelic missense variant in SVBP (p.Leu49Pro) in six patients from three unrelated families. These affected individuals present with a complex hereditary spastic paraplegia (HSP), peripheral neuropathy, verbal apraxia, and intellectual disability, exhibiting a milder phenotype compared to patients with nonsense SVBP mutations described previously. Consistent with SVBP's primary role as a chaperone necessary for VASH-mediated tubulin detyrosination, both patient fibroblasts with the p.Leu49Pro mutation, and HeLa cells harboring an SVBP knockdown exhibit microtubule dynamic instability and alterations in pericentriolar material (PCM) component trafficking and centrosome cohesion. In patient fibroblasts, structural abnormalities in the centrosome trigger mitotic errors and cellular senescence. Notably, premature senescence characterized by elevated levels of p16INK4, was also observed in patient peripheral blood mononuclear cells (PBMCs). Taken together, our findings underscore the critical role of SVBP in the development and maintenance of the central nervous system, providing novel insights associating cytokinesis failure with cortical motor neuron disease and intellectual disability.

A Novel Unbalanced Chromosome 8 Translocation with Multiple Congenital Malformations

Unbalanced translocation is estimated to be responsible for about 1% of developmental delay and intellectual disabilities. It is inherited from parent with balanced translocation or appears as a new mutation “Denovo”. Offsprings of balanced translocation’s parents usually display 46 chromosomes including the derivative chromosome and usually partially trisomic and partially monosomic as well. Partial trisomy 8 is responsible for most of the phenotypic features in our case report.

Pay Attention to Hypertension (PAtH): Findings from a cardiovascular health promotion intervention for adults with intellectual disabilities participating in Special Olympics programming.

Cardiovascular disease (CVD) affects adults globally. People with intellectual disabilities (PWID) may be at higher risk of CVD and associated risk factors (e.g. obesity, hypertension, and diabetes). We developed Pay Attention to Hypertension (PAtH), a cardiovascular health promotion intervention, and tested its impact on changes in blood pressure (BP), lifestyle behaviours and health-related empowerment among PWID. PAtH was developed with a Special Olympics community organisation that supports PWID in developing self-confidence and social skills through participation in sports. The 6-month intervention consisted of 1-h individualised virtual sessions delivered monthly by nursing students/novice nurses. Sessions covered specific themes, including monitoring BP, adopting healthy lifestyles and managing stress, and were individually tailored to the capacities and needs of participants. A single group pre-post-intervention design was used to assess the intervention's effects among participants who completed the intervention and data collection. Data included baseline and follow-up BP measurements from 7-day logbooks and questionnaires assessing lifestyle behaviours [physical activity (PA), screen time and diet], and health-related empowerment. Seventy-four participants were included in the analyses. Between baseline and follow-up, there were no changes in systolic and diastolic BP, PA or leisure screen time. The proportion of participants who reported adding salt when cooking decreased from baseline to follow-up (19.7% vs. 12.7%, P=0.034), and we found improvements for several items measuring health-related empowerment (P≤0.003). Improvements in health-related empowerment were found following PAtH. More intensive interventions may be needed to result in changes in lifestyle behaviours and BP. The integration of adapted cardiovascular health promotion initiatives within well-established community organisations such as Special Olympics is a promising avenue to contribute to cardiovascular health promotion among PWID.

Two-hit mutation causes Wilms tumor in an individual with FBXW7-related neurodevelopmental syndrome.

FBXW7 (F-box and WD-repeat domain-containing 7) is a tumor suppressor gene, and its germline variants have been causally linked to Wilms tumors. Furthermore, germline variants of FBXW7 have also been implicated in a neurodevelopmental syndrome. However, little is known regarding the occurrence of Wilms tumor in patients with FBXW7-related neurodevelopmental syndrome. We identified a novel constitutional pathogenic variant of FBXW7 in a patient with intellectual disability, who also developed Wilms tumor. The variant was derived from his apparently normal mother, and was also detected in his sister who exhibited developmental delay. Furthermore, we detected a somatic nonsense variant on the paternal allele of FBXW7 in the tumor DNA. These results suggest that the development of Wilms tumor along with FBXW7-related neurodevelopmental syndrome follows the two-hit model, which needs to be validated to establish appropriate follow-up management and tumor surveillance.

Burden of congenital and hereditary anomalies and their epidemiological attributes in the pediatric and adult population of Peshawar valley, Pakistan

Objectives: To elucidate the burden and clinico-epidemiological attributes of congenital and hereditary anomalies (CA) in the extended Peshawar Valley of Pakistan. Method: This is a multicenter cross sectional study carried out in Buner, Charsadda, Mardan, Nowshera, Peshawar and Swabi districts, during 2017-2021. The pediatric and adult patients with CA were recruited from hospitals, public places and through door-to-door surveys. The anomalies were classified with the help of specialized clinicians. Descriptive statistics was employed. Results: In this study, 1065 independent subjects with certain types of CA from independent households were included. The index males were 71%; the majority of subjects originated from rural areas (72%), and spoke Pashto (96%). The CA were categorized into 10 major and at least 104 minor categories. There was highest representation of neurological disorders, n=375 (proportion.: 0.352; 95% CI: 0.323-0.381), followed by limb defects (n=281; prop.: 0.264), sensorineural defects (n=128; prop.: 0.120), musculoskeletal defects (n=84; prop.: 0.079), visual impairments (n=67; prop.: 0.063), hemoglobinopathies (n=40; prop.: 0.038), ectodermal disorders (n=34; prop.: 0.032), cardiovascular anomalies (n=19; prop.: 0.018), and orofacial anomalies (n=19; prop). Among the neurological disorder, intellectual disabilities and cerebral palsy were highly prevalent. The majority of the cases had a sporadic presentation (68%), and isolated occurrence (72%), whereas parental consanguinity was witnessed in 58% of cases. Conclusion: A wide range of CA were witnessed in this cohort with a preponderance of neurological disorders. The majority of the anomalies are of severe nature rendering a high morbidity burden in the population and requiring early detection, intervention and management. doi: https://doi.org/10.12669/pjms.40.10.9234 How to cite this: Naqvi SF, Ameena U, Qazi W, Ahmad S, Iqbal A, Malik S. Burden of congenital and hereditary anomalies and their epidemiological attributes in the pediatric and adult population of Peshawar valley, Pakistan. Pak J Med Sci. 2024;40(10):2181-2189. doi: https://doi.org/10.12669/pjms.40.10.9234 This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/3.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

Exploring the Phenotypic Spectrum of KCNB1: A Case Series of Two Unique Presentations

Background and Purpose: We present two cases exemplifying the broad phenotypic spectrum associated with pathogenic changes in KCNB1 protein. Our case series highlights the variability of the outcomes of this genetic condition. Methods: This is a descriptive retrospective review of medical histories of two patients under the age of 18 years with KCNB1 related neurodevelopmental disorder. We performed a literature review from published articles in PubMed indexed journals. Brief Report: A 9-year-old girl with developmental delay and autism found to have a pathogenic mutation in the KCNB1 gene presented with regression in her language, staring spells, and EEG findings suggestive of Electrographic Status Epilepticus in Sleep (ESES). She is maintained on Clobazam and continues to make gains in her milestones. A 16-year-old boy with a heterozygous mutation in the KCNB1 gene presented with mild intellectual disability and attention deficit hyperactivity disorder. His EEG showed frequent bursts of generalized, sharply contoured theta activity - a finding of uncertain clinical significance. However, no clinical seizures were mentioned. He is maintained on valproic acid for mood stabilization. Conclusion: The phenotype associated with KCNB1-related neurodevelopmental disorders is variable and includes epilepsy, intellectual disabilities, and psychiatric diagnoses. While our first patient had typical manifestations of the condition, treatment with anti-seizure medication was seen as beneficial. Our second patient had no clinical seizures, and his case highlights the importance of assessing the risk-benefit ratio of anti-seizure medication. It is important to understand the spectrum of the disease in order to identify clinical manifestations and perform early testing for a better prognosis.

ZMYND11 Functions in Bimodal Regulation of Latent Genes and Brain-like Splicing to Safeguard Corticogenesis.

Despite the litany of pathogenic variants linked to neurodevelopmental disorders (NDD) including autism (ASD) and intellectual disability 1,2 , our understanding of the underlying mechanisms caused by risk genes remain unclear. Here, we leveraged a human pluripotent stem cell model to uncover the neurodevelopmental consequences of mutations in ZMYND11 , a newly implicated risk gene 3,4 . ZMYND11, known for its tumor suppressor function, encodes a histone-reader that recognizes sites of transcriptional elongation and acts as a co-repressor 5,6 . Our findings reveal that ZMYND11-deficient cortical neural stem cells showed upregulation of latent developmental pathways, impairing progenitor and neuron production. In addition to its role on histones, ZMYND11 controls a brain-specific isoform switch involving the splicing regulator RBFOX2. Extending our findings to other chromatin-related ASD risk factors revealed similar developmental pathway activation and splicing dysregulation, partially rescuable through ZMYND11's regulatory functions.

Mutant ATRX: pathogenesis of ATRX syndrome and cancer.

The transcriptional regulator ATRX, a genetic factor, is associated with a range of disabilities, including intellectual, hematopoietic, skeletal, facial, and urogenital disabilities. ATRX mutations substantially contribute to the pathogenesis of ATRX syndrome and are frequently detected in gliomas and many other cancers. These mutations disrupt the organization, subcellular localization, and transcriptional activity of ATRX, leading to chromosomal instability and affecting interactions with key regulatory proteins such as DAXX, EZH2, and TERRA. ATRX also functions as a transcriptional regulator involved in the pathogenesis of neuronal disorders and various diseases. In conclusion, ATRX is a central protein whose abnormalities lead to multiple diseases.

Assessment and Treatment of Target Behavior Maintained by Social Avoidance.

Past research has identified that some individuals with intellectual and developmental disabilities who engage in target behavior (e.g., aggression, self-injury) maintained by negative reinforcement engage in the behavior to escape or avoid social interaction specifically (i.e., social avoidance). However, assessment and treatment strategies for this function are understudied when compared to target behavior maintained by other forms of negative reinforcement. The current study builds on this limited research and demonstrates (a) a replication of functional analysis conditions and a negative reinforcement latency assessment to identify the specific types of social interaction that evoke target behavior, and (b) an intervention that includes stimulus fading, social conditioning, and differential reinforcement for five participants with autism spectrum disorder. Participant target behavior decreased within the intervention phase for four out of five participants. The implications of strategies to guide the use of antecedent-based treatment strategies are discussed for target behavior maintained by social avoidance.