Barriers to communication with people with developmental disabilities: A reflexive thematic analysis.

People with Intellectual Disability and/or autism internationally experience some of the worst health outcomes of any population group. Registered nurses have been identified as having educational deficits in this domain, which include knowledge of adjustments to communication. This study aimed to explore perceived barriers to communication with people with Intellectual Disability and/or autism. A thematic analysis of data from an open-ended free-text survey question exploring barriers to communicating in a cross-sectional survey of 279 Australian registered nurses conducted in 2020 was undertaken. Six interrelated themes were identified. Increased educational content in undergraduate and postgraduate level nursing courses is indicated. The findings identify the benefit of educational design based on the foundation of understanding the diversity in thinking and information processing represented by the forms of neurodiversity in Intellectual Disability and Autism Spectrum Disorder.

A Meta-Analysis of Treatment for Self-Injurious Behavior in Children and Adolescents With Intellectual and Developmental Disabilities.

Self-injurious behavior (SIB) among children and youth with developmental disabilities has not diminished in prevalence despite the availability of effective interventions, and the impact on quality of life for people and their families is devastating. The current meta-analysis reviews SIB intervention research between 2011 and 2021 using single-case experimental designs with children and youth up to 21 years old and provides a quantitative synthesis of data from high-quality studies including moderator analyses to determine effects of participant and study characteristics on intervention outcomes. Encouraging findings include a high level of effectiveness across studies in the decrease of SIB (Tau-U = -0.90) and increase of positive behavior (Tau-U = 0.73), as well as an increase in studies (relative to prior reviews) reporting intervention fidelity, generalization, maintenance, and social validity. However, our findings shed limited light on potential moderating variables in the development of interventions for children and youth who exhibit SIB. Of the potential moderators of intervention effects, only implementer (researcher/therapist vs. parent/caregiver) and setting (clinic vs. home) were significantly associated with improved outcomes. We discuss the need for more robust involvement of natural communities of implementers in SIB intervention research to better equip them to effectively and sustainably meet the needs of people they care for. We also discuss the importance of creating systems enabling broad access for children with SIB to effective interventions in service of reducing burden for people, families, and society over time.

Differences in Telemedicine Use Between People With and Without an Intellectual or Other Developmental Disability During the COVID-19 Pandemic.

Telemedicine utilization of people with an Intellectual or Other Developmental Disability (IDD) during the COVID-19 Pandemic is not well known. This study compares telemedicine utilization of those with and without IDD prior to the pandemic to after it began. Using the Utah All Payers Claims Database from 2019 to 2021, the study identified telemedicine utilization of adults aged 18 to 62 years old in 2019. Propensity score matching was used to minimize observed confounders of subjects with and without IDD in 2019. Negative binomial regression was used to identify factors that were associated with telemedicine utilization. The final number of subjects in the analysis was 18 204 (IDD: n = 6068, non-IDD: n = 12 136 based on 1:2 propensity score matching). The average (SD) age of the subjects was 31 (11.3) years old in 2019. Forty percent of the subjects were female, about 70% of subjects were covered by Medicaid in 2019. Average (SD) number of telemedicine use in 2020 (IDD: 1.96 (5.97), non-IDD: 1.18 (4.90); P < .01) and 2021 (IDD: 2.24 (6.78) vs 1.37 (5.13); P < .01) were higher for the IDD group than the non-IDD group. The regression results showed that the subjects with IDD had 56% more telemedicine encounters than those in the non-IDD group (Incidence Rate Ratio (IRR) = 1.56, P < .01). The growth of telemedicine during the COVID-19 pandemic has the potential to reduce persistent healthcare disparities in individuals with IDD. However, quality of telemedicine should be considered when it is provided to improve health of subjects with IDD.

Disparities in Breast Cancer Screening Rates Among Adults With and Without Intellectual and Developmental Disabilities.

BACKGROUND: Individuals with intellectual and developmental disabilities may face barriers in accessing healthcare, including cancer screening and detection services. We sought to assess the association of intellectual and developmental disabilities (IDD) with breast cancer screening rates. METHODS: Data from 2018 to 2020 was used to identify screening-eligible individuals from Medicare Standard Analytic Files. Adults aged 65-79 years who did not have a previous diagnosis of breast cancer were included. Multivariable regression was used to analyze the differences in breast cancer screening rates among individuals with and without IDD. RESULTS: Among 9,383,349 Medicare beneficiaries, 11,265 (0.1%) individuals met the criteria for IDD. Of note, individuals with IDD were more likely to be non-Hispanic White (90.5% vs. 87.3%), have a Charlson Comorbidity Index score ≤ 2 (66.2% vs. 85.5%), and reside in a low social vulnerability index neighborhood (35.7% vs. 34.4%). IDD was associated with reduced odds of undergoing breast cancer screening (odds ratio (OR) 0.77, 95% confidence interval (CI) 0.74-0.80; p < 0.001). Breast cancer screening rates in individuals with IDD were further influenced by social vulnerability and belonging to a racial/ethnic minority. CONCLUSIONS: Individuals with IDD may face additional barriers to breast cancer screening. The combination of IDD and social vulnerability placed patients at particularly high risk of not being screened for breast cancer.

Human immunodeficiency virus diagnosis and care among adults with intellectual and developmental disabilities who are publicly insured.

BACKGROUND: This study aimed to assess the prevalence of human immunodeficiency virus (HIV) testing, HIV diagnosis and receipt of HIV care among adults with intellectual and developmental disabilities (IDDs) who are publicly insured in the USA. DESIGN: This study is a cross-sectional analysis of Medicare-Medicaid linked data of adults with IDD who were publicly insured in 2012 (n = 878 186). METHODS: We estimated adjusted prevalence ratios of HIV testing, diagnosis and receipt of antiretroviral therapy (ART). We also identified the relationship between predisposing (age, gender, race and ethnicity), enabling (Medicare, Medicaid or both; rural status; geographical location; and county income) and need-related characteristics (IDD diagnosis and other co-occurring conditions) associated with these outcomes. RESULTS: Only 0.12% of adults with IDD who had no known HIV diagnosis had received an HIV test in the past year. The prevalence of HIV diagnosis among adults with IDD was 0.38%, although differences by type of IDD diagnosis were observed. Prevalence of HIV diagnosis differed by type of IDD. Among adults with IDD who were living with HIV, approximately 71% had received ART during 2012. The adjusted analyses indicate significant racial disparities, with Black adults with IDD making up the majority (59.11%) of the HIV-positive IDD adult population. CONCLUSIONS: Adults with IDD are a unique priority population at risk for HIV-related disparities, and the level of risk is differential among subtypes of IDD. People with IDD, like other people with disabilities, should be considered in prevention programming and treatment guidelines to address disparities across the HIV care continuum.

Time to Reaching Target Cooling Temperature and 2-year Outcomes in Infants with Hypoxic-Ischemic Encephalopathy.

OBJECTIVE: To determine if time to reaching target temperature (TT) is associated with death or neurodevelopmental impairment (NDI) at 2 years of age in infants with hypoxic-ischemic encephalopathy (HIE). STUDY DESIGN: Newborn infants ≥36 weeks of gestation diagnosed with moderate or severe HIE and treated with therapeutic hypothermia were stratified based on time at which TT was reached, defined as early (ie, ≤4 hours of age) or late (>4 hours of age). Primary outcomes were death or NDI. Secondary outcomes included neurodevelopmental assessment with Bayley Scales of Infant and Toddler Development, third edition (BSID-III) at age 2. RESULTS: Among 500 infants, the median time to reaching TT was 4.3 hours (IWR, 3.2-5.7 hours). Infants in early TT group (n = 211 [42%]) compared with the late TT group (n = 289 [58%]) were more likely to be inborn (23% vs 13%; P < .001) and have severe HIE (28% vs 19%; P = .03). The early and late TT groups did not differ in the primary outcome of death or any NDI (adjusted RR, 1.05; 95% CI, 0.85-0.30; P = .62). Among survivors, neurodevelopmental outcomes did not differ significantly in the 2 groups (adjusted mean difference in Bayley Scales of Infant Development-III scores: cognitive, -2.8 [95% CI, -6.1 to 0.5], language -3.3 [95% CI, -7.4 to 0.8], and motor -3.5 [95% CI, -7.3 to 0.3]). CONCLUSIONS: In infants with HIE, time to reach TT is not independently associated with risk of death or NDI at age 2 years. Among survivors, developmental outcomes are similar between those who reached TT at <4 and ≥4 hours of age. TRIAL REGISTRATION: High-dose Erythropoietin for Asphyxia and Encephalopathy (HEAL); NCT02811263; https://beta. CLINICALTRIALS: gov/study/NCT02811263.

Health equity for people with intellectual and developmental disability requires vast improvements to data collection: Lessons from the COVID-19 pandemic.

The COVID-19 pandemic drastically underscored the lack of proper health surveillance for people with intellectual and developmental disability (IDD) in the USA. This data equity failure resulted in researchers having to rely on nontraditional data sources to develop an understanding of how this population was faring during the pandemic. To begin addressing this data equity concern, in this commentary, we (1) discuss the difficulties in accessing data during the pandemic specifically related to people with IDD; (2) provide guidance regarding how existing data can be used to examine COVID-19 outcomes for people with IDD; and (3) provide recommendations for improving data collection for people with IDD in light of lessons learned during the pandemic. In sum, the data currently available to examine COVID-19 as well as other health outcomes among people with IDD are severely limited, compromising the ability to both understand and address health disparities among this population.

Associations Between Parenting Behaviors and Behavioral Problems in Young Children With Developmental Delays.

Children with developmental delays (DD) are at heightened risk for developing behavior problems, which contribute to parenting stress and caregiving burden. There is an established relation between parenting behaviors and child developmental outcomes with less known about parent-child interactions in young children with DD. The present study examined the associations between parenting behaviors and child behavior in a sample of 180 families with preschool-aged children with DD. Results indicated that caregivers' harsh and coercive behaviors were associated with observed challenging behavior in children. Child age, as well as the number of commands issued by caregivers were associated with noncompliance in children. The significance and limitations of these findings are discussed, as well as recommendations for interventions and future research.

Temporal trends and regional variation of heart transplantation in children with intellectual and developmental disabilities.

BACKGROUND: Historically, intellectual and developmental disability (IDD) has been considered an important factor in choosing potential recipients of organ transplants among many transplant centers. This study evaluated the temporal changes at the national and regional levels in the proportion of heart transplantation in children with IDD. METHODS: Children younger than 19 years in the United Network for Organ Sharing (UNOS) database who received heart transplants from 2010 to 2021 were included in this study. The patients were grouped into only definitive intellectual disability, both definitive intellectual and motor disability, only definitive motor disability, and no developmental disability. Multinomial logistic regressions were used to examine the proportion of heart transplants in each category for the whole cohort and each geographic transplant region. RESULTS: There were 4273 pediatric heart transplant recipients included in the study. From 2010 to 2021, the percentages of pediatric heart transplants increased from 3.8% (95% CI, 0.01-0.05) to 5.8% (95% CI, 0.03-0.08) in children with only definitive intellectual disability (OR 0.07; 95% CI, 0.02-0.1, ptrend < .002), from 3.4% (95% CI, 0.01-0.05) to 6.6% (95% CI, 0.04-0.09) in children with both definitive intellectual disability and motor disability (OR 0.09; 95% CI, 0.05-0.13, ptrend < .001), and from 5.2% (95% CI, 0.02-0.07) to 8.3% (95% CI, 0.05-0.1) in children with only definitive motor disability (OR 0.06; 95% CI, 0.02-0.09, ptrend < .002). There were several regional differences in the proportion of children with intellectual and developmental disabilities who received heart transplants. CONCLUSION: There is increasing inclusion of children diagnosed with intellectual and developmental disabilities in heart transplantation. A review of the current allocation policies may address the marked geographic variations found in this study.

Elevated risk for developmental disabilities in children with congenital heart defects.

BACKGROUND: This study examined risk for developmental disabilities in preschool-aged children with a congenital heart defect (CHD) at the population level. METHODS: Statewide birth, birth defects, and preschool developmental disability records were integrated. The final sample included 1,966,585 children (51.0% male). Children were grouped by type(s) of CHD: critical CHD, noncritical CHD, atrial septal defect, or no major birth defects (groups were mutually exclusive). RESULTS: Children with a CHD (any type) were at increased risk for developmental disability (any type) (RR 2.08, 95% CI 2.03-2.14, P < .001). Children in the critical CHD, noncritical CHD, and atrial septal defect groups were at increased risk for developmental delay, intellectual disability, language impairment, other health impairment, and any disability. Children in the atrial septal defect group were at increased risk for autism spectrum disorder and speech impairment. For all CHD groups, risk was greatest for other health impairment and intellectual disability. CONCLUSIONS: Increased risk for developmental disabilities was identified for children with less severe CHDs as well as for children with more severe (critical) CHDs. All children with CHDs should be closely monitored so that appropriate interventions can be initiated as early as possible to maximize learning outcomes.

Single-cell brain organoid screening identifies developmental defects in autism.

The development of the human brain involves unique processes (not observed in many other species) that can contribute to neurodevelopmental disorders1-4. Cerebral organoids enable the study of neurodevelopmental disorders in a human context. We have developed the CRISPR-human organoids-single-cell RNA sequencing (CHOOSE) system, which uses verified pairs of guide RNAs, inducible CRISPR-Cas9-based genetic disruption and single-cell transcriptomics for pooled loss-of-function screening in mosaic organoids. Here we show that perturbation of 36 high-risk autism spectrum disorder genes related to transcriptional regulation uncovers their effects on cell fate determination. We find that dorsal intermediate progenitors, ventral progenitors and upper-layer excitatory neurons are among the most vulnerable cell types. We construct a developmental gene regulatory network of cerebral organoids from single-cell transcriptomes and chromatin modalities and identify autism spectrum disorder-associated and perturbation-enriched regulatory modules. Perturbing members of the BRG1/BRM-associated factor (BAF) chromatin remodelling complex leads to enrichment of ventral telencephalon progenitors. Specifically, mutating the BAF subunit ARID1B affects the fate transition of progenitors to oligodendrocyte and interneuron precursor cells, a phenotype that we confirmed in patient-specific induced pluripotent stem cell-derived organoids. Our study paves the way for high-throughput phenotypic characterization of disease susceptibility genes in organoid models with cell state, molecular pathway and gene regulatory network readouts.

Neuropsychiatric Developmental Disorders in Children Are Associated With an Impaired Response to Treatment in Bladder Bowel Dysfunction: A Prospective Multi-Institutional European Observational Study.

PURPOSE: Bladder and bowel dysfunction is a common but underdiagnosed pediatric entity which may represent up to 47% of pediatric urology consults. The objectives of this observational study were to determine functional 1-year outcomes following standard treatment of bladder and bowel dysfunction in both control and neuropsychiatric developmental disorder groups using validated questionnaires, and to perform an initial cost analysis. MATERIALS AND METHODS: This was a prospective observational study conducted across a number of academic European centers (July 2020-November 2022) for new bladder and bowel dysfunction patients. Parents completed a sociodemographic survey, information pertaining to prior neuropsychiatric developmental disorder diagnoses, as well as a number of validated functional scores. RESULTS: A total of 240 patients were recruited. In the control bladder and bowel dysfunction group, the baseline Dysfunctional Voiding Scoring System and Childhood Bladder and Bowel Dysfunction Questionnaire scores were 20% and 17.% lower, respectively, after 1 year compared to the neuropsychiatric developmental disorder group. The change in improvement was diminished for the neuropsychiatric developmental disorder cohort in both Dysfunctional Voiding Scoring System and Childhood Bladder and Bowel Dysfunction Questionnaire scores. The odds ratio of full symptom resolution was 5.7 in the control cohort compared to the neuropsychiatric developmental disorder cohort. A cost analysis on prescribed medications at referral led to a total cost of €32,603.76 (US $35,381.00) in the control group and €37,625.36 (US $40,830.00) in the neuropsychiatric developmental disorder group. CONCLUSIONS: This study demonstrates that pediatric patients with a neuropsychiatric developmental disorder exhibit more severe bladder and bowel dysfunction at baseline and throughout treatment with a lower overall quality of life, as well as 15.4% higher medication costs at referral. It is also important that parents' and caregivers' expectations are managed regarding higher levels of treatment resistance for functional bladder and bowel issues.

Cross-species analysis identifies mitochondrial dysregulation as a functional consequence of the schizophrenia-associated 3q29 deletion.

The 1.6-megabase deletion at chromosome 3q29 (3q29Del) is the strongest identified genetic risk factor for schizophrenia, but the effects of this variant on neurodevelopment are not well understood. We interrogated the developing neural transcriptome in two experimental model systems with complementary advantages: isogenic human cortical organoids and isocortex from the 3q29Del mouse model. We profiled transcriptomes from isogenic cortical organoids that were aged for 2 and 12 months, as well as perinatal mouse isocortex, all at single-cell resolution. Systematic pathway analysis implicated dysregulation of mitochondrial function and energy metabolism. These molecular signatures were supported by analysis of oxidative phosphorylation protein complex expression in mouse brain and assays of mitochondrial function in engineered cell lines, which revealed a lack of metabolic flexibility and a contribution of the 3q29 gene PAK2. Together, these data indicate that metabolic disruption is associated with 3q29Del and is conserved across species.

Parent factors associated with BMI, diet, and physical activity of adolescents with intellectual and developmental disabilities.

BACKGROUND: Adolescents with intellectual and developmental disabilities (IDD) experience overweight and obesity (OW/OB) up to 1.8 times the rate of their typically developing peers. Parents may influence adolescent weight management behaviors in this population, but the association between parent factors and adolescent weight management behaviors is unclear. OBJECTIVE: To examine the associations between parent BMI and sociodemographic characteristics with adolescents' BMI, diet quality, daily energy intake, moderate to vigorous physical activity (MVPA), and sedentary behavior. METHODS: This study analyzed baseline data from an 18-month randomized controlled weight loss trial for adolescents with IDD. We assessed parent BMI (kg/m2) and sociodemographic factors, and adolescent BMI z-score, MVPA, sedentary time, daily energy intake, and diet quality. Associations between parent and adolescent factors were assessed with Pearson, Spearman or Kendall Tau-b correlations; mean differences for categorical outcomes were assessed with independent samples t-tests/Mann-Whitney U tests or ANOVA/Kruskall-Wallis tests. RESULTS: Ninety-five adolescent and parent dyads were included. Parent BMI was positively correlated with adolescent BMI z-score (n = 94: rs = 0.37, p < 0.01). Household income was inversely correlated with adolescent BMI z-score (n = 95: Tb = -0.18, p = 0.02). Parents with less than a bachelor's degree had adolescents with higher BMI z-scores than those with bachelor's or higher (2.1 ± 0.5 vs. 1.8 ± 0.5, p = 0.02) as well as higher sedentary behavior (n = 28, 515.2 ± 102.6 min/day vs. n = 40, 463.9 ± 148.1 min/day, p = 0.02). CONCLUSION: We found parent BMI, income, and education associated with adolescent BMI z-score. These findings contribute to the sparse literature on parental factors associated with OW/OB in this population. CLINICAL TRIALS NUMBER: NCT02561754.

Effects of Cooperative, Competitive, and Solitary Exergames on Cognition and Anxiety Levels in Children with Developmental Disabilities.

Objective: Exergames are playing an important role in person-centered therapy, health care services, and in the rehabilitation field. This study aimed to compare the effects of cooperative, competitive, and solitary exergames on cognition and anxiety levels in children with developmental disabilities (DD). Materials and Methods: This study was a randomized controlled trial pretest-posttest including 36 children with DD who were allocated to the cooperative exergame group (CGG), competitive exergame group (CmGG), and solitary exergame group (SGG). The exergame program was performed two times a week for 8 weeks and the outcome measurements were conducted before and after the program. A paired sample t-test and one-way analysis of variance (ANOVA) were used to analyze the changes within and between the groups. Results: The result indicated a significant improvement in memory, attention, and visual perception in all groups; the CGG and CmGG showed a high increase in attention compared with the SGG. However, only the CGG presented a significant improvement in the language subscale. In terms of anxiety, only the CGG presented substantial improvements in all anxiety subscales. The CmGG showed improvement in social phobia and the SGG in physical injury fears, social phobia, and general anxiety fears. Conclusion: The findings suggest that cooperative and competitive exergames may be used to effectively improve cognitive functions; cooperative exergames can be applied as the most effective method to reduce anxiety compared with the other game types for children with DD.

Anxiety, depression, and well-being in autistic adults and adults with other developmental disabilities: A longitudinal cross-lagged analysis.

Autistic people and people with other developmental disabilities (DD) are at high likelihood for anxiety and depression, which can negatively affect adult life. Therefore, this study sought to understand temporal links between anxiety and depression over time in autistic adults and adults with DDs, and how these conditions impact specific aspects of positive well-being. A sample of 130 adults with autism or other DDs and their caregivers were drawn from a longitudinal study. Participants complete measures of anxiety (Adult Manifest Anxiety Scale), depression (Beck Depression Inventory, 2nd Edition), and well-being (Scales of Psychological Well-Being). Cross-lagged panel analyses revealed significant autoregressive effects for anxiety and depressive symptoms over time, based on both caregiver and self-report (all p < 0.01). Additionally, although findings differed across reporter, cross-lagged links between anxiety and depression emerged over time. Based on caregiver-report, anxiety symptoms predicted later depressive symptoms (p = 0.002) but depressive symptoms did not predict later anxiety (p = 0.10); the opposite pattern was identified for self-report. Aspects of positive well-being (purpose in life, self-acceptance, personal growth) demonstrated differential links with anxiety and depression (p = 0.001-0.53). These findings highlight the utility of a transdiagnostic approach to mental health services for autistic adults and adults with DDs, and the need to monitor for anxious or depressive symptoms in autistic adults and adults with DDs presenting with depression or anxiety, respectively.

Caregiver goals and satisfaction for menstrual suppression in adolescent females with developmental disabilities: A prospective cohort study.

BACKGROUND: Adolescents with developmental disabilities and their caregivers often seek menstrual management. Caregivers frequently serve as medical decision-makers, and little is known about caregiver goals for menstrual management and satisfaction over time. OBJECTIVE: Assess caregiver reasons for initiating menstrual management in adolescents with disabilities and satisfaction over 12 months. METHODS: Prospective cohort study of caregivers of adolescents with developmental disabilities seeking menstrual management at a pediatric and adolescent gynecology clinic. Data derive from caregiver surveys and adolescents' electronic medical records. RESULTS: Ninety-two caregiver-adolescent pairs enrolled. The mean age of adolescents was 14.4 (±2.6). The most common method started was levonorgestrel intrauterine device (LNG-IUD; 52, 56.5%), followed by oral norethindrone acetate (21, 22.8%). Caregivers cited hygiene concerns (84.8%), behavioral problems (52.2%), and heavy/excessive bleeding (48.9%) as reasons for initiating menstrual suppression. Caregivers who identified hygiene or heavy/excessive bleeding as the most important reason for management were more likely to select LNG-IUD (p = 0.009). Caregivers who cited behavioral/mood or seizure concerns as the most important reason were more likely to choose other methods (p < 0.05). At 12 months, caregiver satisfaction with all methods was high (66.2-86.9 on a 100-point scale). For every additional day of bleeding, satisfaction decreased by 3.7 points (95% CI: 2.3-5.0). CONCLUSIONS: Caregiver satisfaction with all methods is high; however, it negatively correlates with days of bleeding. Caregiver reasons for menstrual suppression influence the method chosen. Management may reflect both patient and caregiver priorities; research is needed to better understand shared decision-making models that promote reproductive autonomy in adolescents with a developmental disability.

SRSF1 haploinsufficiency is responsible for a syndromic developmental disorder associated with intellectual disability.

SRSF1 (also known as ASF/SF2) is a non-small nuclear ribonucleoprotein (non-snRNP) that belongs to the arginine/serine (R/S) domain family. It recognizes and binds to mRNA, regulating both constitutive and alternative splicing. The complete loss of this proto-oncogene in mice is embryonically lethal. Through international data sharing, we identified 17 individuals (10 females and 7 males) with a neurodevelopmental disorder (NDD) with heterozygous germline SRSF1 variants, mostly de novo, including three frameshift variants, three nonsense variants, seven missense variants, and two microdeletions within region 17q22 encompassing SRSF1. Only in one family, the de novo origin could not be established. All individuals featured a recurrent phenotype including developmental delay and intellectual disability (DD/ID), hypotonia, neurobehavioral problems, with variable skeletal (66.7%) and cardiac (46%) anomalies. To investigate the functional consequences of SRSF1 variants, we performed in silico structural modeling, developed an in vivo splicing assay in Drosophila, and carried out episignature analysis in blood-derived DNA from affected individuals. We found that all loss-of-function and 5 out of 7 missense variants were pathogenic, leading to a loss of SRSF1 splicing activity in Drosophila, correlating with a detectable and specific DNA methylation episignature. In addition, our orthogonal in silico, in vivo, and epigenetics analyses enabled the separation of clearly pathogenic missense variants from those with uncertain significance. Overall, these results indicated that haploinsufficiency of SRSF1 is responsible for a syndromic NDD with ID due to a partial loss of SRSF1-mediated splicing activity.

Adult Independence Living Measurement Scale: Psychometric validation of a scale to estimate personal skills for independent living in people with intellectual and developmental disabilities.

BACKGROUND: The United Nations has declared that people with disabilities should be enabled to live as independently as possible, since independence is correlated with a better quality of life. Consequently, services need to have common and validated measurement tools for the evaluation of the different levels of personal support needs in order to promote independent living skills. We aimed to create and validate the Adult Independence Living Measurement Scale (AILMS) to estimate personal skills considered tantamount for independent living in adult persons with intellectual and developmental disabilities. METHODS: AILMS is a short informant-rated assessment tool consisting of 19 items (goals) regarding the most important skills related to independent living. AILMS total score is directly proportional to the degree of independence, with scores ranging from 19 to 76. Our validation is a multicentre study attended by 243 subjects, 110 female and 123 males, with a median age of 37 years and with an interquartile range (IQR) of 18 (25th percentile [Q1] 29 years to 75th percentile [Q3] 47 years). All subjects had a diagnosis of intellectual disability associated with various neurodevelopmental disorders or syndromic conditions. RESULTS: The AILMS shows a wide range of scores with a minimum score of 21 and a maximum of 72. We found no floor or ceiling effects for the total score on the AILMS. Cronbach's α coefficient (= 0.95), based on the 19 AILMS items, indicated high internal consistency. The tool demonstrates a very good agreement even when comparing the results submitted by two different interviewers. It also shows an excellent temporal stability of 1 week, with intraclass correlation coefficients both of 0.97. AILMS total scores do not differ by sex or age, while statistically significant differences are observed between people with different levels of severity of ID. Convergent validity of AILMS was analysed by correlating its total scores with the Italian validated versions of the Support Intensity Scale (SIS-I) and the Alzheimer's Functional Assessment Tool (AFAST-I) scores. Strong inverse Spearman correlations coefficients (rs ) were found both for the Support Need Index of the SIS-I (rs  = -0.66; P < 0.001) and AFAST-I (rs  = -0.73; P < 0.001). Scores of support needs in exceptional health disorders of the SIS-I appear unrelated to AILMS total scores (rs  = -0.01; P = 0.05), confirming the divergent validity of the new scale. Exploratory factor analysis reveals three underlying factors within the AILMS, with factor 1 explaining 51.2% of the total variance (Cronbach's α = 0.92) composed of predominantly nine advanced daily activities. CONCLUSIONS: The AILMS has good psychometric properties and user friendliness and may therefore be a valuable addition to the current informant-rated tools for screening and assessment of independent living skills of individuals with intellectual and developmental disabilities.