"There is No Help:" Caregiver Perspectives on Service Needs for Adolescents and Adults with Profound Autism.

The underrepresentation of individuals with profound autism (who require 24/7 access to care) in autism research has resulted in limited knowledge about their service needs and a lack of evidence-based practices tailored to those needs. This study explored caregiver perspectives on service needs, barriers to accessing care, and treatment priorities to guide treatment development and improvement of service delivery. A sequential mixed-methods design integrated quantitative survey data (n = 423; Mage = 18.89 years; 26.7% female) with qualitative interviews (n = 20) with caregivers of adolescents and adults with profound autism. Quantitative findings indicated regular socialization opportunities were the most frequently endorsed unmet service need (60.3% of caregivers), followed by primary health care with autism-trained staff (59.3%), social skills instruction (55.8%), life skills instruction (51.3%), and behavioral support (47.3%). Higher likelihood of needing social activity groups was associated with elevated emotional reactivity, higher language level, minoritized ethnicity, and lower household income. Greater need for specialized primary health care was associated with lower income, while the need for social and life skills instruction was associated with increased age and elevated dysphoria. Qualitative analysis identified 10 themes that converged and expanded quantitative findings by highlighting a pervasive shortage of individualized, goal-oriented services, common barriers to care, and the priority of developing centralized treatment settings that coordinate care throughout adulthood. This study identified pressing service needs for adolescents and adults with profound autism in the United States. These insights are crucial for improving the accessibility and quality of clinical care.

Supporting self-determination of individuals with severe or profound intellectual and multiple disabilities according to relatives and healthcare professionals: A concept mapping study.

BACKGROUND: This study aimed to identify perspectives of relatives and healthcare professionals regarding self-determination support for people with severe or profound intellectual and multiple disabilities, highlighting agreements and differences in their viewpoints. METHOD: Following a concept mapping study, online focus group meetings yielded statements on self-determination support from relatives (residential facilities: n = 6, family homes: n = 7) and healthcare professionals (residential facilities: n = 9, family home: n = 5). Participants clustered and rated statements, resulting in four concept maps interpreted by experts (N = 6). RESULTS: The 285 statements were categorised into 5-7 clusters per map, revealing key strategies for self-determination support: communication and choice making (facilitated by aids), sensitivity, familiarity, and collaboration among involved parties. CONCLUSION: Each group placed different emphasis on these strategies, highlighting importance of continuous support in their implementation. Future research should prioritise practical implementations of these strategies to enhance self-determination.

Etiology of Childhood Profound Sensorineural Hearing Loss: The Role of Hearing Loss Gene Panel Testing.

OBJECTIVE: Establishing the cause of hearing loss (HL) is important and rewarding, though not without its challenges. While our ability to identify the etiology for HL has improved with advances in scientific knowledge, a significant proportion of cases remain of unknown etiology. Recent protocol changes within the NHS Genomic Medicine Service support the utilization of the HL gene panel test, rather than individual gene tests. In light of these changes, determining the yield of these more extensive panel tests is important in informing future practice. STUDY DESIGN: Retrospective study. SETTING: The Cochlear Implant (CI) Department at Great Ormond Street Hospital (GOSH). METHODS: Four hundred seventy-six children with profound HL were identified from a database of referrals to the GOSH CI Department. Data on etiology of HL including genetic diagnosis was collected from hospital notes on an electronic patient records system and hospital genetics database. RESULTS: We identified a positive result in 163/476 (34%) cases through the gene panel test, representing an additional 19% yield to current level 1 investigations. Genetic HL, including both syndromic (including those not covered by the HL gene panel) and nonsyndromic (209/476, 44%) was the most common etiology in our cohort. Perinatal, intrauterine, ototoxicity, meningitis, and encephalitis categories altogether comprised 97/476 (20%) cases. CONCLUSION: Gene panel testing provides significant additional yield over current level 1 investigations which include GJB2 testing only. This has far-reaching implications for how we optimize investigations into HL in children and counsel families, and for future early interventions.

Corrigendum: Understanding profound autism: implications for stigma and supports.

[This corrects the article DOI: 10.3389/fpsyt.2024.1287096.].

Evaluation of a super powerful bone-anchored hearing system and its users: A retrospective study.

INTRODUCTION: Although the Baha 5SP has been commercially available for six years, very few studies have been performed on the device's efficacy. The current study aims to evaluate the characteristics and audiological results in patients with severe-to-profound mixed hearing loss fitted with this superpower sound processor. METHODS: This retrospective evaluation was conducted at a tertiary referral centre where a series of 82 adult patients with severe-to-profound mixed hearing loss were implanted with a percutaneous bone-anchored hearing system and fitted with a superpower sound processor between 2016 and 2019. Patients with incomplete or unreliable audiological data (n = 24) were excluded, resulting in 58 data sets for analysis. The main outcome measures were unaided and aided pure-tone thresholds and aided free-field speech perception in quiet. RESULTS: The median unaided air conduction (AC) threshold averaged across 0.5, 1 and 2 kHz (PTA0.5-2kHz) of all patients was 75 dB hearing loss (HL); the median unaided AC averaged across 1, 2 and 4 kHz (PTA1-4kHz) was 84 dB HL. For bone conduction and direct bone conduction, the median PTA0.5-2kHz was 52 and 47 dB HL, respectively. With the superpower device, the median free-field speech reception threshold was 54 dB sound pressure level (SPL), and the median speech perception score at 65 dB SPL was 80%. CONCLUSIONS: At least 75% of the patients reached a maximum phoneme score of 70%. For patients with lower scores, the superpower device still provides a substantial hearing benefit. This makes the superpower device particularly suitable for patients with severe-to-profound mixed hearing loss with a contraindication for conventional hearing aids and/or cochlear implants.

Mortality in French people with polyhandicap/profound intellectual and multiple disabilities.

BACKGROUND: In recent decades, progress has been made in the care of people with polyhandicap/profound intellectual and multiple disabilities (PIMD) through a better understanding of the pathophysiology and the development of new care management and rehabilitation strategies adapted to these extreme pathologies. Although there is a lack of knowledge about the health status and care management of the oldest people, a better understanding of the natural course of life of people with polyhandicap/PIMD would consequently allow the optimisation of preventive and curative care management strategies. Few robust data on mortality and life expectancy have been documented for this population in France. Our aims are to estimate the median survival time and assess the factors associated with mortality in people with polyhandicap/PIMD receiving care in France. METHODS: This study included people with polyhandicap/PIMD, followed by the French national cohort 'Eval-PLH' since 2015. These individuals were included in specialised rehabilitation centres and residential institutions. The people included in the first wave of the cohort (2015-2016) were eligible for the present study. Vital status on 1 January 2022 (censoring date) was collected in two ways: (1) spontaneous reporting by the participating centre to the coordinating team and (2) systematic checking on the French national death platform. According to the vital status, survival was calculated in years from the date of birth to the date of death or from the date of birth to the censoring date. The factors associated with mortality were evaluated using the Cox proportional regression hazards model. RESULTS: Data from 780 individuals aged between 3 and 67 years were analysed. At the censoring date, 176 (22.6%) had died, and the mean survival was 52.8 years (95% confidence interval: 51.1-54.5). Mortality was significantly associated with a progressive aetiology, recurrent pulmonary infections, drug-resistant epilepsy and a higher number of medical devices. CONCLUSIONS: This study shows for the first time the survival and impact of factors associated with mortality in people with polyhandicap/PIMD in France.

Costs of Severe to Profound Hearing Loss & Cost Savings of Cochlear Implants.

OBJECTIVE: To estimate costs of severe to profound hearing loss, including costs and cost-savings associated with cochlear implantation. METHODS: Data was obtained from the National Health Interview Survey, the National Health and Nutrition Examination Survey and national Medicare rates. We used continuous time state transition models with individual patient simulations to estimate the costs of severe to profound hearing loss (SPHL) across the lifespan. The model included four states, normal hearing, severe to profound hearing loss, cochlear implantation, and death. RESULTS: The estimated lifetime cost of an individual born with SPHL is $489,274 [377,518; 616,519]. Costs are lower for those who received a cochlear implant before 18 months of age $390,931 [311,976; 471,475], compared to those who are not implanted $608,167 [442,544; 791,719]. For individuals with a later onset of hearing loss (60 years old) lifetime costs were $154,536 [7,093; 302,936]. The annual societal costs for the US population were estimated to be $37 [8; 187] billion. CONCLUSIONS: SPHL is a costly condition, with the primary driver being lost productivity. Medical costs were higher for cochlear implantation, however, the higher income earnings offset the higher medical costs. Overall, early implantation substantially reduced lifetime costs. Access to hearing health care and technology is critical given the documented benefits for language, education, and quality of life. Government and insurance policies should be modified to allow for equal access and coverage for hearing technology, which will ultimately reduce lifetime and societal costs. LEVELS OF EVIDENCE: N/A The current study used existing nationally representative datasets. Thus, these levels of evidence do not apply. Laryngoscope, 2024.

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.

Autism Severity and its Relationship to Disability.

Autism severity is currently defined and measured based exclusively on the severity levels of the two core symptom domains: social-communication and restricted or repetitive patterns of behaviors and interests. Autistic individuals, however, are often diagnosed with other medical, developmental, and psychological co-occurring conditions. These additional challenges such as intellectual disability, limited expressive and/or receptive language, and anxiety disorders, can have a tremendous impact on the day-to-day lives of autistic individuals, for both their adaptive functioning as well as their sense of wellbeing. Furthermore, the initial presentation of core symptoms and their likelihood of changing over time are influenced by the presence of such co-occurring conditions. In order to truly understand how a person's autism impacts their life, both core symptoms as well as other challenges should be considered. This approach was recently taken by The Lancet Commission on the future of care and clinical research in autism, which proposed the term "profound autism" for a subgroup of individuals presenting with high core symptom severity, co-occurring intellectual disability, and little or no language, who require extensive long-term care. Considering other individual factors such as daily living skills, specific support needs and environmental resources would also enhance the evaluation of disability in autistic individuals. As currently employed in the assessment of intellectual disability, a multidimensional approach to autism could provide a more comprehensive system for classification of impairment. At present, however, there is no formal way to designate the combined effect of these different aspects of autism on a person's life. A comprehensive outlook that acknowledges impairments, capabilities, co-occurring conditions, and environmental factors would be useful for identifying subgroups of individuals as well as for determining individual needs and strengths in clinical assessments. Lay Summary: The severity of a person's autism is currently defined based on the severity of their core autism symptoms: impaired social-communication and the presence of restricted or repetitive patterns of behaviors and interests. But autistic people often face additional challenges such as intellectual disability, epilepsy, and anxiety disorder, that considerably impact their everyday life, wellbeing, and the need for support. A more complete view of autism severity, one that includes core symptoms as well as additional challenges, could help identify meaningful sub-groups of autistic individuals and could be useful in clinical care. Appeared originally in Autism Res 2023; 16:685-696.

Parent-perceived autonomy-supportive experiences and basic psychological needs of people with complex support needs: Development and preliminary psychometric evaluation of two questionnaires.

Background: Understanding and supporting basic psychological needs of persons with complex support needs is important but difficult because of communicative challenges . We developed and tested questionnaires to obtain parents' perspectives on autonomy support and basic psychological needs of autonomy, competence, and relatedness. Method: Two parent-informant questionnaires were developed, administered, and subjected to psychometric property analyses. Participants were 63 Dutch parents of persons diagnosed with severe or profound intellectual and multiple disabilities. Results: Principal component analyses revealed a one-factor structure for the Parental Perceptions on Autonomy-Supportive Experiences questionnaire, while the Parental Perceptions on Basic Psychological Need Signals questionnaire yielded two-factors interpreted as Noticing Signals of Autonomy and Noticing Signals of Competence/Relatedness. Evidence for construct validity was found for both instruments. Conclusions: Preliminary evaluation of the new questionnaires is encouraging, but further validation with a larger sample size is warranted.

Physical health conditions in young children with profound intellectual and multiple disabilities: The prevalence and associations between these conditions.

BACKGROUND: It is thought that physical health conditions start at a young age in people with profound intellectual and multiple disabilities (PIMD). Knowledge regarding the prevalence, associations and development of these physical health conditions could be used for purposes of prevention as well as appropriate care and support but is currently lacking. OBJECTIVE: The aim of this study is to gain insight into the prevalence of physical health conditions and associations between these conditions in young children with PIMD. METHODS: The study used cross-sectional data related to the physical health conditions of children with PIMD (n = 51, aged between 12 and 61 months). Data were collected in Belgium and in the Netherlands through a checklist filled in by primary caregiver(s). Physical health conditions were classified into categories by the 10th revision of the International Classification of Diseases and Related Health Problems (ICD-10) system. The number of physical health conditions and associations between them were analysed. The analysis focused on prevalence rates and associations represented by odds ratios (p < 0.05). A graphical model was estimated to represent dependencies and conditional dependencies between physical health conditions. RESULTS: We found a mean of 3.8 (range 1-8, SD 1.9) physical health conditions per child. Most of the physical health conditions were found in the ICD-10 chapter 'Nervous System', with hypotonia as the most frequent at 70.6%. Five significant large associations were found between spasticity-contractures (OR 9.54); circulatory system-contractures (OR 7.50); scoliosis-contractures (OR 10.25); hearing impairments-skin problems (OR 58.20) and obstipation-hypotonia (OR 19.98). CONCLUSION: This study shows that at a young age, multiple physical health conditions are present in children with PIMD. In addition, we found five associations between physical health conditions.

Evaluation of the Impact of Cochlear Implantation on Patients' Working Life: A Cross-Sectional Study.

Hearing loss that arises from various causes at different stages of life has a direct impact on individuals' physical and mental well-being. This paper aimed to evaluate the employment, workplace adaptation, productivity, and professional success of individuals who have hearing loss and whose hearing loss is corrected with a cochlear implant. In this cross-sectional study, data were collected between November 2022 and March 2023 with the participation of individuals with cochlear implants living in several settlements in all regions of Türkiye. A total of 142 participants with severe hearing loss who were corrected with a cochlear implant were included in this study. The survey method was used to collect data for the study. The questionnaire consisted of 32 questions and was distributed to the participants online. In the first part of the questionnaire (questions 1-10), the general characteristics of implant patients were investigated. In the second part (questions 11-32), the positive or negative effects of implantation on the work lives of the participants were evaluated. Almost half of the research group (49.3%, n = 70) consisted of women, and the mean age of the participants was determined to be 35.8 ± 14.8 years. There was no significant difference between gender, educational status, implanted side, working time, working style (physical, desk), and factors affecting work life (p > 0.05). Professional satisfaction and success at work increased significantly more in those with acquired hearing loss (p = 0.010). Post-implantation workplace compliance, success, and productivity were found to be higher in those with acquired hearing loss (p = 0.013). Hearing loss had a significantly less negative impact on work performance in those implanted in childhood than in those implanted in adulthood (p = 0.043). It was observed that hearing loss had a greater negative impact on the work life of married people (p = 0.006). Cochlear implantation greatly enhances workplace satisfaction, increases self-confidence, and has a positive impact on the future of profoundly deaf individuals.

Family Resilience Affecting Well-Being of Families With a Child With Profound Intellectual and Multiple Disabilities.

Persons with profound intellectual and multiple disabilities (PIMD) have pervasive support needs, which are often managed by their families. By being resilient and positively adapting to this challenge, families may maintain a positive family quality of life (FQOL). We therefore aimed to understand how families with a child with PIMD experience their family resilience, and if and how it affects their FQOL. Participants were 64 parents of a person with PIMD from 44 families. Total family resilience, as well as most subscales received positive scores, and also had a significant positive effect on FQOL. These results provide more insight into the family dynamics of families with a child with PIMD, which should inform policies, and provided services for these families.

Understanding profound autism: implications for stigma and supports.

Introduction: Societal perceptions and lack of understanding of autism spectrum disorder can be stigmatizing for autistic individuals and their families. This may be particularly the case for individuals who meet criteria for profound autism. Despite the considerable service needs of this marginalized group, there is little data on the prevalence of profound autism, nor on the experiences of those with profound autism and their families. Methods: The current study leveraged a mixed-methods approach to address these gaps. First, the prevalence of profound autism was examined in six samples-three from the United States and three from Western Europe. Second, inductive thematic analysis was used to code interviews from 20 caregivers of profoundly autistic adults. Results: The prevalence of profound autism varied widely across the six samples-from 11% to 48%. There were also notable differences between samples in prevalence by gender, race, and ethnicity. Two overarching themes were identified via inductive thematic analysis: Community Perceptions of Autism and Family Support Needs and Advocacy Challenges. Though caregivers were not directly asked about stigmatization during interviews, 85% of caregivers reported at least one instance of perceived stigma. Discussion: Future research should continue to examine the unique needs and stigmatization experiences of profoundly autistic individuals and their families across the life course.

Factors influencing communication partners of persons with severe/profound intellectual disability use of augmentative and alternative communication: an integrative review.

PURPOSE: To present a synthesis of evidence related to the factors influencing communication partners' use of augmentative and alternative communication with persons with severe/profound intellectual disability. MATERIALS AND METHODS: An integrative review guided by five steps; problem identification, literature search, data evaluation, data analysis and presentation was undertaken. In accordance with the Preferred Reporting Items for Systematic Reviews and Meta-Analyses statement, nine databases were searched, 1,342 studies were screened against the eligibility criteria, and 15 studies underwent thematic analysis. RESULTS: Two themes emerged; (1) Achieving Meaningful Communication and (2) Communication Partners' Preparedness to Use Augmentative and Alternative Communication. Achieving meaningful communication was central to communication partners' use of augmentative and alternative communication and was two-fold. It involved identifying the persons' communication methods and encouraging them to communicate. Communication partners' preparedness also influenced their use of augmentative and alternative communication. This preparedness was impacted by communication partners' preconceived thoughts about and knowledge of augmentative and alternative communication, nurturing their belief in augmentative and alternative communication, and the interpersonal dynamic between network members. CONCLUSION: Communication partners' use of augmentative and alternative communication is influenced by multiple and complex factors. The findings contribute to the knowledge of the potential factors to be considered to prepare communication partners to use augmentative and alternative communication.

Multiple, complex factors influence communication partners of persons with severe/profound intellectual disability use of augmentative and alternative communication (AAC), which include communication partners' beliefs, attitudes, expectations, knowledge and resources such as training, support and time.To offer individuals with severe/profound intellectual disability opportunities to communicate, communication partners need to recognise their attempts and thus, their ability. Continuously being sensitive to the individuals' communication methods, whilst being cognisant that these methods can change may enhance communication partners' awareness and understanding of the individuals' communication attempts.Communication partners' need to feel prepared to use AAC. To feel prepared, they need to be aware of the potential benefits that AAC can offer the interaction and the long-term outcomes, develop their knowledge, and be surrounded by a supportive team dynamic.

Profound Autism: An Imperative Diagnosis.

Profound autism refers to a subset of individuals with autism spectrum disorder who have an intellectual disability with an intelligence quotient less than 50 and minimal-to-no language and require 24-hour supervision and assistance with activities of daily living. The general pediatrician will invariably work with autistic children across the spectrum and will likely encounter youth with profound autism. Awareness of profound autism as a real entity describing autistic children with concomitant intellectual disability and language impairment who require 24-hour care is the first step in developing a solid pediatric home for these youth.

A systematic review of research on staff training as an intervention to develop communication in children and adults with profound intellectual and multiple disabilities.

INTRODUCTION: This paper aims to identify to what extent staff training interventions are successful in enhancing the development of communication skills in people with profound intellectual and multiple disabilities. METHODS: A systematic review was undertaken, conforming to PRISMA guidelines. English language, peer reviewed, empirical studies of staff training interventions to enhance the communication of people with profound intellectual and multiple disabilities were included. Databases Scopus, Web of Science, Proquest, Linguistics and Language Behaviour Abstracts (LLBA) and Medline were searched in July 2015 and updated in December 2022. Quality appraisal was conducted on 13 studies using Crowe's Critical Appraisal Tool (CCAT). RESULTS: Few good quality evaluations of interventions were found. Challenges to research rigour included the diversity of people with profound intellectual and multiple disabilities, small sample sizes, intervention intensity and the management of fidelity. CONCLUSIONS: Manualised and bespoke interventions showed promise in improving staff communication and responsiveness.

Sensory, Affective, and Social Experiences with Haptic Devices in Intramural Care Practice.

Previous work has shown that technology can facilitate the communication of emotions, social touch, and social presence through haptic devices, meaning devices that provide a haptic stimulation. However, for special user groups living in long-term care facilities, such as people with dementia, the applications of these haptic devices are not apparent. The aim of this study is to understand how haptic devices can be used in intramural care facilities in times of social isolation, focusing on haptic devices that utilize haptic sensation. Five haptic devices were tested at three care facilities. Insights from this study highlight the potential of haptic devices to enhance sensory, affective, and social experiences during video calling between residents and their relatives. Moreover, the importance of the tactile sensation and form factor of haptic devices in the care context is addressed, along with insights on how to create the appropriate atmosphere during video calling.

From assistive to inclusive? A systematic review of the uses and effects of technology to support people with pervasive support needs.

BACKGROUND: Although particular technologies can enhance the quality of life (QoL) of people with profound intellectual and multiple disabilities (we use the term pervasive support needs), their objectives and outcomes are understudied. A systematic literature review was therefore conducted to explore this topic. METHOD: A search of four databases yielded 64 studies. Data were extracted on their general characteristics, methods and sample characteristics as well as the technology types, QoL domains and application within ecological systems. A narrative synthesis was subsequently developed. RESULTS: Most of the studies applied assistive technology (AT) and focused on personal development and self-determination on an individual level. CONCLUSIONS: Technology can enhance the QoL of people with pervasive support needs. There are indications that although MT and UD-based technology are used in practice, few studies have examined these technologies. Therefore, there is a knowledge gap regarding the kinds of technology that are used in practice.

Cholelithiasis prevalence and risk factors in individuals with severe or profound intellectual and motor disabilities.

BACKGROUND: The prevalence and risk factors of cholelithiasis in individuals with severe or profound intellectual and motor disabilities (SPIMD) are poorly characterised. Thus, we aimed to investigate the prevalence and risk determinants of cholelithiasis in a cohort with SPIMD under medical care in a residential facility. METHODS: We categorised 84 patients in a residential hospital for persons with SPIMD into groups: those with (Group CL) and without (Group N) cholelithiasis. Gallstones were detected via computed tomography, ultrasonography or both. We evaluated gastrostomy status, nutritional and respiratory support, constipation, and bladder and kidney stones. Data were significantly analysed using univariate and multivariate logistic regression analyses. RESULTS: The prevalence rate of cholelithiasis in our SPIMD cohort was 27%. There were no significant differences in sex, age, weight, height, or Gross Motor Function Classification System between the two groups. However, more patients received enteral nutrition (39.13% vs. 6.56%; P = 0.000751) and were on ventilator support (56.52% vs. 19.67%; P = 0.00249) in Group CL than in Group N. Enteral nutrition [odds ratio (OR) 10.4, 95% confidence interval (CI) 1.98-54.7] and ventilator support (OR 20.0, 95% CI 1.99-201.0) were identified as independent risk factors for the prevalence of cholelithiasis in patients with SPIMD. CONCLUSIONS: Patients with SPIMD demonstrated an increased prevalence of cholelithiasis, with a notable association between nutritional tonic use and respiratory support. Therefore, to emphasise the need for proactive screening, it is crucial to devise diagnostic and therapeutic strategies specific to patients with SPIMD. Further investigation is essential to validate our findings and explore causative factors.