Assessing the Nurse Anesthesiologists' Self-Perceived Preparedness to the Care for Individuals With Intellectual and Development Disability: A Cross Sectional Survey.

Approximately 6.5 million people in the U.S. are affected by an intellectual or developmental disability (IDD). However, their healthcare needs often remain unmet due to the inadequate education and training of healthcare professionals. Given that various procedures may require anesthesia in as many as 40% of individuals with IDD, Certified Registered Nurse Anesthetist Programs need to incorporate IDD training into their curriculum. A cross-sectional survey using a 12-item questionnaire was conducted to assess IDD training. Statistical analyses included the chi-square test and participant demographics were reported as frequencies or percentages. Numerical data were presented as means and standard deviations. A total of 277 respondents completed the survey and most reported (55%) a lack of IDD training at nurse anesthesia programs and 90% recognized the need for additional training. Only 24% felt competent in providing care for patients with IDD, while 52% reported feeling somewhat or very competent. A significant correlation was found between the number of clinical anesthesia experiences and self-rated competence (P < 0.001). Incorporating IDD training into the nurse anesthesia curriculum is critical to preparing competent graduates capable of serving this diverse population. Nurse anesthesia programs should evaluate their curriculum to effectively address this healthcare inequality.

A complex systems perspective on chronic aggression and self-injury: case study of a woman with mild intellectual disability and borderline personality disorder.

BACKGROUND: Challenging behaviors like aggression and self-injury are dangerous for clients and staff in residential care. These behaviors are not well understood and therefore often labeled as "complex". Yet it remains vague what this supposed complexity entails at the individual level. This case-study used a three-step mixed-methods analytical strategy, inspired by complex systems theory. First, we construed a holistic summary of relevant factors in her daily life. Second, we described her challenging behavioral trajectory by identifying stable phases. Third, instability and extraordinary events in her environment were evaluated as potential change-inducing mechanisms between different phases. CASE PRESENTATION: A woman, living at a residential facility, diagnosed with mild intellectual disability and borderline personality disorder, who shows a chronic pattern of aggressive and self-injurious incidents. She used ecological momentary assessments to self-rate challenging behaviors daily for 560 days. CONCLUSIONS: A qualitative summary of caretaker records revealed many internal and environmental factors relevant to her daily life. Her clinician narrowed these down to 11 staff hypothesized risk- and protective factors, such as reliving trauma, experiencing pain, receiving medical care or compliments. Coercive measures increased the chance of challenging behavior the day after and psychological therapy sessions decreased the chance of self-injury the day after. The majority of contemporaneous and lagged associations between these 11 factors and self-reported challenging behaviors were non-significant, indicating that challenging behaviors are not governed by mono-causal if-then relations, speaking to its complex nature. Despite this complexity there were patterns in the temporal ordering of incidents. Aggression and self-injury occurred on respectively 13% and 50% of the 560 days. On this timeline 11 distinct stable phases were identified that alternated between four unique states: high levels of aggression and self-injury, average aggression and self-injury, low aggression and self-injury, and low aggression with high self-injury. Eight out of ten transitions between phases were triggered by extraordinary events in her environment, or preceded by increased fluctuations in her self-ratings, or a combination of these two. Desirable patterns emerged more often and were less easily malleable, indicating that when she experiences bad times, keeping in mind that better times lie ahead is hopeful and realistic.

Diagnosis of Arboleda-Tham syndrome by whole-exome sequencing in an Asian girl with severe developmental delay.

OBJECTIVE: This study aims to report a severe phenotype of Arboleda-Tham syndrome in a 20-month-old girl, characterized by global developmental delay, distinct facial features, intellectual disability. Arboleda-Tham syndrome is known for its wide phenotypic spectrum and is associated with truncating variants in the KAT6A gene. METHODS: To diagnose this case, a combination of clinical phenotype assessment and whole-exome sequencing technology was employed. The genetic analysis involved whole-exome sequencing, followed by confirmation of the identified variant through Sanger sequencing. RESULTS: The whole-exome sequencing revealed a novel de novo frameshift mutation c.3048del (p.Leu1017Serfs*17) in the KAT6A gene, which is classified as likely pathogenic. This mutation was not found in the ClinVar and HGMD databases and was not present in her parents. The mutation leads to protein truncation or activation of nonsense-mediated mRNA degradation. The mutation is located within exon 16, potentially leading to protein truncation or activation of nonsense-mediated mRNA degradation. Protein modeling suggested that the de novo KAT6A mutation might alter hydrogen bonding and reduce protein stability, potentially damaging the protein structure and function. CONCLUSION: This study expands the understanding of the genetic basis of Arboleda-Tham syndrome, highlighting the importance of whole-exome sequencing in diagnosing cases with varied clinical presentations. The discovery of the novel KAT6A mutation adds to the spectrum of known pathogenic variants and underscores the significance of this gene in the syndrome's pathology.

Mid-life social participation in people with intellectual disability: The 1958 British birth cohort study.

BACKGROUND: Low social participation is a potentially modifiable risk factor for cognitive deterioration in the general population and related to lower quality of life (QoL). We aimed to find out whether social participation is linked to cognitive deterioration and QoL for people with borderline intellectual functioning and mild intellectual disability. METHOD: We used data from the National Child Development Study, consisting of people born during one week in 1958, to compare midlife social participation in people with mild intellectual disability, borderline intellectual functioning, and without intellectual impairment. We defined social participation as 1. confiding/emotional support from the closest person and social network contact frequency at age 44, and 2. confiding relationships with anyone at age 50. We then assessed the extent to which social participation mediated the association between childhood intellectual functioning and cognition and QoL at age 50. RESULTS: 14,094 participants completed cognitive tests at age 11. People with borderline intellectual functioning and mild intellectual disability had more social contact with relatives and confiding/emotional support from their closest person, but fewer social contacts with friends and confiding relationships with anyone than those without intellectual disability. Having a confiding relationship partially mediated the association at age 50 between IQ and cognition (6.4%) and QoL (27.4%) for people with borderline intellectual functioning. CONCLUSION: We found adults with intellectual disability have positive family relationships but fewer other relationships. Even at the age of 50, confiding relationships may protect cognition for people with borderline intellectual functioning and are important for QoL.

A behavioural description of meaningful moments of interaction between people with profound intellectual disabilities and support staff.

BACKGROUND: It can be challenging for support staff to develop meaningful moments of interaction with people with profound intellectual disabilities. Gathering information on observable behaviour characterising such meaningful moments is expected to be beneficial. METHOD: Three staff-client dyadic interactions were videotaped for 30 min. During reviewing the recording, staff members indicated which moments of interaction they experienced as meaningful. Per dyad, one meaningful moment was microanalytically coded via a developed coding system, and behaviourally described. RESULTS: The coding system reliably coded behaviour at the micro level. Exploratory results indicated that looking, movement and touching were most shown, and that staff displayed this behaviour more frequently than their clients. Both exhibited behaviours substantially more often during meaningful moments than at their onset. DISCUSSION: People with profound intellectual disabilities are more engaged during meaningful moments of interaction compared to at their onset. In daily practice, cultivating circumstances increasing their involvement is important.

Novel SETBP1 D874V adjacent to the degron causes canonical schinzel-giedion syndrome: a case report and review of the literature.

Schinzel-Giedion syndrome (SGS) is a severe multisystem disorder characterized by distinctive facial features, profound intellectual disability, refractory epilepsy, cortical visual impairment, hearing loss, and various congenital anomalies. SGS is attributed to gain-of-function (GoF) variants in the SETBP1 gene, with reported variants causing canonical SGS located within a 12 bp hotspot region encoding SETBP1 residues aa868-871 (degron). Here, we describe a case of typical SGS caused by a novel heterozygous missense variant, D874V, adjacent to the degron. The female patient was diagnosed in the neonatal period and presented with characteristic facial phenotype (midface retraction, prominent forehead, and low-set ears), bilateral symmetrical talipes equinovarus, overlapping toes, and severe bilateral hydronephrosis accompanied by congenital heart disease, consistent with canonical SGS. This is the first report of a typical SGS caused by a, SETBP1 non-degron missense variant. This case expands the genetic spectrum of SGS and provides new insights into genotype-phenotype correlations.

How do people with intellectual disabilities understand friendship? A systematic meta-synthesis.

BACKGROUND: Previous systematic reviews of the relationships of people with intellectual disabilities have included consideration of intimate relationships. In this paper, we report a systematic review of papers describing friendship only. METHOD: A systematic qualitative meta-synthesis of the research exploring experiences of friendship as reported by people with intellectual disabilities. RESULTS: Seven papers met the inclusion criteria for analysis. Three superordinate themes were identified. (1) Reciprocity, 'Someone who helps me, and I help them'. (2) The building blocks of friendships, 'I can tell her some secrets'. (3) Managing friendship difficulties, 'In real life it's much harder'. CONCLUSION: People with intellectual disabilities value friendship and actively engage in reciprocal exchanges. We explore the strengths and limitations of current research, clinical implications, and directions for future research.

[Tooth decay and autism spectrum disorders in children: is there a connection?] / Karies zubov i rasstroistva autisticheskogo spektra u detei: est' li svyaz'?

OBJECTIVE: The study of caries lesions of children 7 and 12 years old with different degrees of severity of autism and concomitant intellectual disabilities, in comparison with a control group of neurotypical patients of similar age. MATERIALS AND METHODS: The main study group included children with ASD ages 7 and 12 (n=214), and the comparison group included neurotypical children of the same age (n=140). To assess the incidence of dental caries, indicators of the prevalence and intensity of the process were used. RESULTS: The prevalence of dental caries in children with ASD is lower than in the comparison group or comparable. The average caries prevalence was found in the 7- and 12-year-old groups in children with mild autism without concomitant intellectual deficits (80.89±3.40 and 76.65±4.24, respectively). In children with severe and extremely severe autism, regardless of the presence of intellectual disability, the prevalence of dental caries was high in both age groups, which is comparable with the same indicator and age of neurotypical children. Moreover, both age groups of neurotypical children were also comparable in caries prevalence (89.67±1.65 and 90.32±1.20 respectively). Caries intensity did not seem to be related to years of autistic disorder (significantly lower in the group of 12-year-old children with ASD, compared to 7-year-olds). Caries intensity in children with ASD increased with increasing severity of autism and concomitant intellectual disability. CONCLUSION: Further comprehensive studies in terms of included variables are needed to identify contributing factors (impact of family socioeconomic opportunities, increased parental care, etc.).

Trainee advocacy for medical education on the care of people with intellectual and/or developmental disabilities: a sequential mixed methods analysis.

BACKGROUND: Medical trainees (medical students, residents, and fellows) are playing an active role in the development of new curricular initiatives; however, examinations of their advocacy efforts are rarely reported. The purpose of this study was to understand the experiences of trainees advocating for improved medical education on the care of people with intellectual and/or developmental disabilities. METHODS: In 2022-23, the authors conducted an explanatory, sequential, mixed methods study using a constructivist paradigm to analyze the experiences of trainee advocates. They used descriptive statistics to analyze quantitative data collected through surveys. Participant interviews then yielded qualitative data that they examined using team-based deductive and inductive thematic analysis. The authors applied Kern's six-step approach to curriculum development as a framework for analyzing and reporting results. RESULTS: A total of 24 participants completed the surveys, of whom 12 volunteered to be interviewed. Most survey participants were medical students who reported successful advocacy efforts despite administrative challenges. Several themes were identified that mapped to Steps 2, 4, and 5 of the Kern framework: "Utilizing Trainee Feedback" related to Needs Assessment of Targeted Learners (Kern Step 2); "Inclusion" related to Educational Strategies (Kern Step 4); and "Obstacles", "Catalysts", and "Sustainability" related to Curriculum Implementation (Kern Step 5). CONCLUSIONS: Trainee advocates are influencing the development and implementation of medical education related to the care of people with intellectual and/or developmental disabilities. Their successes are influenced by engaged mentors, patient partners, and receptive institutions and their experiences provide a novel insight into the process of trainee-driven curriculum advocacy.

Treating traumatized children with intellectual disabilities: Tailoring Trauma-Focused Cognitive Behaviour Therapy for a vulnerable population.

BACKGROUND: Children with intellectual disabilities are at heightened risk for traumatization, though underserved due to silos of care, diagnostic overshadowing, and lack of adapted treatment. Trauma-Focused Cognitive Behavioural Therapy (TF-CBT), an evidence-based childhood trauma therapy, is described with recommended adaptations for use with children who have intellectual disabilities. METHOD: We present a suggested theoretical and clinical guide for treating children with mild to moderate intellectual disabilities. We explicate key functional domains of intellectual disabilities-comprehension, executive functions, and generalization-as the basis for tailoring the treatment model. RESULTS: Therapy recommendations are organized into a heuristic 'matrix' of resources and adaptations to TF-CBT components, based on clinical experience and research literature, illustrated with composite case vignettes. CONCLUSION: Children with intellectual disabilities are a uniquely vulnerable population historically excluded from clinical trauma interventions and research but can respond to adapted care. Considerations for future research and dissemination are discussed.

Barriers to physical activity participation for adults with intellectual disability: A cross-sectional study.

BACKGROUND: Identifying barriers that can be modified to promote physical activity is important for informing health interventions for adults with intellectual disabilities. OBJECTIVES: Exploring participation in physical activity considering age, sex, living conditions, and health conditions. Further, identifying barriers significantly associated with sedentary activity after adjustment for physical activity correlates. METHODS: A cross-sectional study including physical activity and barrier questions from the POMONA-15 health indicators. Multivariate logistic regression analysis with sedentary activity level as dependent variable. RESULTS: Among 213 participants with intellectual disabilities, 36% reported predominately sedentary activities, 53% light and 11% moderate/vigorous physical activity. Barriers related to sedentary activity after adjustment were transportation, health conditions, mobility impairment, and lack of activities at the day activity centre. CONCLUSIONS: The findings highlight the need to enhance physical activity opportunities at day activity centres, tailor programmes for wheelchair users, and improve access to physical activity facilities for adults with intellectual disabilities.

Could the 14q23.2 microdeletion or AKAP5 haploinsufficiency be a potential cause of intellectual disability?

Intellectual disability is characterized by impairment in at least two of the following areas: social skills, communication skills, self-care tasks, and academic skills. These impairments are evaluated in relation to the expected standards based on the individual's age and cultural levels. Additionally, intellectual disability is typically defined by a measurable level of intellectual functioning, represented by an intelligence quotients core of 70 or below. Autism spectrum disorder is a developmental disability resulting from differences in the brain, often characterized by problems in social communication and interaction, and limited or repetitive behaviors or interests. Hereditary spherocytosis is a disease characterized by anemia, jaundice, and splenomegaly as a result of increased tendency to hemolysis with morphological transformation of erythrocytes from biconcave disc-shaped cells with central pallor to spherocytes lacking central pallor due to hereditary injury of cellular membrane proteins. An 11-year-old female patient was referred to Pediatric Genetics Subdivision due to the presence of growth retardation and a diagnosis of hereditary spherocytosis. Since she also had dysmorphic facial features, such as frontal bossing, broad and prominent forehead, tubular nasal structure, and thin vermillion, genetic tests were performed. Chromosomal microarray analysis revealed a 2.5 Mb deletion in the 14q23.2q23.3 region. Deletion was also identified in the same region in her father, who had the same phenotypic characteristics, including hereditary spherocytosis and learning difficulties. We propose that the PLEKHG3 and AKAP5 genes, which are located in this region, may contribute to the development of intellectual disability.

Primary mental healthcare for adults with mild intellectual disabilities: Patients' perspectives.

BACKGROUND: People with mild intellectual disabilities (MID) experience more mental health (MH) problems than the general population but often do not receive appropriate primary MH care. Primary MH care is essential in integrative MH care and, therefore, demands high quality. To improve primary MH care for this patient group, account must be taken of the experiences of people with MID. So far, their perspectives have been largely absent from primary MH care research. OBJECTIVES: To explore patients' experiences, needs, and suggestions for improvement regarding primary MH care for people with MID. METHODS: Qualitative study among adults with MID who visited their GP with MH problems in the previous 12 months. Semi-structured interviews were conducted using a guide based on Person-Centred Primary Care Measures. Transcripts were analysed thematically. RESULTS: The 11 interviews that we conducted revealed four themes. The first theme, cumulative vulnerability, describes the vulnerability - instigated by the MID and reinforced by MH problems - experienced on a GP visit. The other themes (needs regarding the GP, needs regarding the network, self-determination) arise from this vulnerability. CONCLUSION: People with both MID and MH problems are extra vulnerable in primary care but desire self-determination regarding their MH care trajectory. This requires investment in a good GP-patient relationship and the organisation of additional support to meet these patients' needs, for which collaborative care with the patient, the patient's network, and other (care) professionals is of utmost importance.

People with mild intellectual disabilities (MID) feel more vulnerable visiting their GP with mental health (MH) problems than with somatic problemsPatients with MH problems report additional needs and expectations regarding their care and support networkGPs face challenges in coordinating care for patients with both MID and MH problems.

Environmental Modifications for People With Intellectual and Developmental Disabilities: A Policy Analysis of Medicaid Home- and Community-Based Services.

IMPORTANCE: Environmental modifications are targets for occupational therapy intervention because they support activities of daily living, self-efficacy, personal control, independence, and community living for people with intellectual and developmental disabilities (IDDs). OBJECTIVE: To examine how environmental modifications were provided to people with IDDs through Medicaid home- and community-based services (HCBS) waivers across the United States in fiscal year (FY) 2021. DESIGN: Using a mixed-methods policy analysis, we examined FY 2021 Medicaid HCBS 1915(c) waivers from across the United States to examine whether, and how, states provided environmental modifications to people with IDDs. RESULTS: In FY 2021, 35 states projected spending $68.8 million on environmental modifications for 12,671 people with IDDs. The purpose of environmental modifications was most often to promote the health, welfare, and safety of people with IDDs (82.68%), and to promote their independence (69.29%). The most common examples of environmental modifications included ramps and/or lifts (70.08%), widening doorways and/or hallways (61.42%), bathroom modifications (58.27%), specialized electrical and/or plumbing for medical equipment (54.33%), and grab bars and/or handrails (53.54%). CONCLUSIONS AND RELEVANCE: HCBS waiver data on environmental modifications for people with IDDs enhances an understanding of this funding source and provides a foundation of advocacy for occupational therapy practitioners to support people with IDDs with living, as well as aging, in the community rather than in institutions. An expansion of environmental modifications in HCBS for people with IDDs aligns with the aim of Medicaid HCBS waivers to promote community integration, self-determination, and independence, which are all benefits of environmental modifications. Plain-Language Summary: This study can help occupational therapy practitioners determine what funding sources are available in their state to help their clients with intellectual and developmental disabilities access environmental modifications. The findings can also help guide advocacy and lobbying efforts to expand access to environmental modifications.

Adult Day Services for People With Intellectual and Developmental Disabilities: A Scoping Review.

BACKGROUND: Adult day services (ADS) are therapeutic, social, and health-related activities that keep people in their homes, rather than institutional settings. While there is a growing body of literature on ADS for older adults, there is far less information available about ADS for younger adults with intellectual and/or developmental disabilities (IDDs). METHOD: Researchers conducted a scoping review of 6 databases (892 total articles). RESULTS: After applying inclusion and exclusion criteria, 74 full articles were reviewed, with 10 articles meeting study requirements. The research team found the literature is limited to simple descriptive reports or interventions that use ADS as a platform. CONCLUSIONS: Simply put, we know very little about the services provided to younger adults with IDD in ADS. Implications for future research are discussed, including the need to catalog the services offered in ADS for younger adults with IDD and to evaluate their impact on participant well-being.

The use of proxy measurement of internal states in people with intellectual disability: A scoping review.

BACKGROUND: The measurement of internal states of people with an intellectual disability is challenging. Given these difficulties, proxy respondents are sometimes used. However, the literature provides some caution about the validity of the use of proxy respondents. AIMS: This review aims to identify the available evidence regarding the use of proxy respondents in the measurement of internal states of people with intellectual disabilities. METHOD: The Arksey and O'Malley scoping review framework was used for this review, refined with the Joanna Briggs Institute Methodology. RESULTS: Results indicate there are some differences in the findings reported with respect to the efficacy of the use of proxy respondents. These may be due to a number of inconsistencies and weaknesses in examinations of their utility. CONCLUSIONS: If proxy-reports are to be useful in understanding the internal states of people with intellectual disability, researchers need to address the shortcomings revealed by this review.

Program logic of a service collaboration to support parents with intellectual disability.

BACKGROUND: This article describes the Steps to Confident Parenting (SCP) program, developed by an Australian family service consortium. The SCP integrates home-based and case-management services to enhance the skills of parents with a diagnosed or suspected intellectual disability/cognitive impairment and to prevent child protection interventions. METHOD: 'Program explication' methodology documented the components/activities, and underpinning evidence for this practitioner designed service through interviews with nine agency staff. A literature review evaluated evidence for the implicit program benefit theory. RESULTS AND CONCLUSION: The SCP comprised five logically consistent components-Targeted Referral, Assessments, Initial Consultation, Program Delivery, Closure and Follow-up. Components generally had 'some' supportive evidence, however there was a 'lack of' evidence for Closure and Follow-up. In the context of a partnership seeking to build the evidence for the SCP, it was recommended that a protocol for a randomised trial evaluation with longer term follow-up be drafted by the consortia.

School-based targeted prevention for children with mild intellectual disabilities or borderline intellectual functioning and behaviour problems: A pilot implementation study.

BACKGROUND: We examined the implementation and potential effectiveness of a school-based targeted prevention programme addressing behaviour problems, adapted for children with mild intellectual disabilities or borderline intellectual functioning. METHOD: Thirteen children participated. The intervention was implemented in schools. We examined intervention dosage, reach, responsiveness, satisfaction, and comprehension, using questionnaires completed by children and trainers. We assessed child- and teacher-reported behaviour problems before and after the intervention. RESULTS: Trainers selected both children who did and did not meet the intervention eligibility criteria, suggesting problems in intervention reach. Intervention dosage, responsiveness, satisfaction, and comprehension were satisfactory. There were group-level behaviour problem decreases (i.e., Cohen's d). Individual-level behaviour problem changes (i.e., Reliable Change Indices) showed large heterogeneity and little reliable change. CONCLUSIONS: The results provide initial evidence that the intervention has potential for successful implementation in schools, but the current evidence for intervention effectiveness is inconclusive.

Strategies for Accessible Breast Screening for People With Intellectual Disability.

INTRODUCTION: People with intellectual disability are less likely to participate in breast screening than people without intellectual disability. They experience a range of barriers to accessing breast screening, however, there is no consensus on strategies to overcome these barriers. Our objective was to reach consensus on the strategies required for accessible breast screening for people with intellectual disability. METHODS: Fourteen experts participated in a modified on-line Delphi that used Levesque's model of health care access as the theoretical framework. At the end of each round descriptive and thematic analyses were completed. Data was then triangulated to determine if consensus was reached. RESULTS: After 3 rounds, 9 strategies were modified, 24 strategies were added and consensus was reached for 52 strategies across the 5 dimensions of access. Key areas of action related to (i) decision making and consent, (ii) accessible information, (iii) engagement of peer mentors, (iv) service navigators, and (v) equipping key stakeholders. CONCLUSIONS: The resulting strategies are the first to articulate how to make breast screening accessible and can be used to inform health policy and quality improvement practices.

Neuropsychological profile associated with KAT6A syndrome: Emergent genotype-phenotype trends.

BACKGROUND: KAT6A (Arboleda-Tham) syndrome is a Mendelian disorder of the epigenetic machinery caused by pathogenic variants in the lysine acetyltransferase 6 A (KAT6A) gene. Intellectual disability and speech/language impairment (e.g., minimally verbal) are common features of the disorder, with late-truncating variants associated with a more severe form of intellectual disability. However, much of the cognitive phenotype remains elusive given the dearth of research. PARTICIPANTS AND METHODS: This study examined non-verbal and social skills of 15 individuals with molecularly-confirmed diagnoses of KAT6A syndrome (Mean age = 10.32 years, SD = 4.12). Participants completed select subtests from the DAS-II, the NEPSY-II, and the Beery Buktenica Developmental Test of Visual Motor Integration 6th Edition, and their caregivers completed an assortment of behavior rating inventories. RESULTS: Findings suggest global cognitive impairment with nonverbal cognition scores similar to those for receptive language. Autism-related features, particularly restricted interests and repetitive behaviors, and broad adaptive deficits were common in our sample juxtaposed with a relatively strong social drive and low frequency of internalizing and externalizing behavioral problems. A general trend of lower performance scores on nonverbal and receptive language measures was observed among those with protein-truncating variants vs. missense variants; however, no effect was observed on caregiver rating inventories of daily behaviors. Late and early truncating variants yielded comparable neuropsychological profiles. CONCLUSIONS: Overall, study results show the cognitive phenotype of KAT6A syndrome includes equally impaired nonverbal cognition and receptive language functioning, paired with relatively intact social drive and strengths in behavior regulation. Emergent genotype-phenotype correlations suggest cognition may be more affected in protein-truncating than missense mutations although similar neurobehavioral profiles were observed.