Autism Early Intervention - Progress, Steps Backward, and the Reconciliation of Conflicting Narratives.

PURPOSE OF REVIEW: We review recent research on interventions, services and supports for children on the autism spectrum, examining both advancements and setbacks. RECENT FINDINGS: Progress has included an increase in quantity and rigor of intervention science, as well as a broadening of disciplines and perspectives engaged in the examination of early interventions, including their effectiveness, social validity and the contextual determinants of implementation outcomes. Setbacks have included the decrease in research involving children on the autism spectrum who have co-occurring profound intellectual disability, minimal or no spoken language, and who require constant assistance with daily living activities. This trend is alarming because it contributes to the marginalization and unmet needs of children who need intervention the most. Additionally, access to early intervention services is unequal and complicated by the misalignment of policy with the evolving evidence base in the field. The recent growth in the depth and breadth of knowledge related to autism early intervention means that policies, practices, advocacy efforts and research directions can be grounded on a more comprehensive evidence base and societal appraisal of autism. Nevertheless, these indisputable markers of success co-exist with conflicting narratives that hinder the establishment of a cohesive agenda to tackle inequities experienced by marginalized subgroups. Reconciliation of conflicting narratives requires a nuanced and compassionate appraisal of sources of tensions and heterogeneity of needs within the autism spectrum.

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.

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.

The influence of intraoperative auditory brainstem responses on vibroplasty coupling-quality and analysis of the impact of different fixation steps on the coupling.

PURPOSE: The Vibrant Soundbridge (VSB) is an established active-middle-ear-implant for patients with moderate-to-profound hearing-loss. This surgery is referred to as "Vibroplasty". Sufficient transfer of the VSB's floating-mass-transducers (FMT) energy to the inner ear is a crucial factor influencing the coupling-quality (CQ). However, assessing CQ is hamper by two issues: the method of CQ-assessment itself and the method of FMT-fixation during Vibroplasty. METHODS: This prospective study explored the influence of intraoperative auditory-brainstem-response (+ ABR) measurements and various fixation methods on postoperative CQ after Vibroplasty as compared to matched-patients after Vibroplasty without intraoperative ABR (-ABR). Propensity-score-matching was performed based on preoperative bone-conduction-pure-tone-average-3 (BC-PTA3) at 1-, 2- and 4 kHz. Primary outcome parameters were postoperative CQ-PTA3, intraoperative ABR threshold for various fixation methods and postoperative BC-PTA3. RESULTS: A total of 28 patients were included, of which 14 were + ABR. Preoperative BC-PTA3, sex, age, and number of previous surgeries did not differ significantly between groups (all p > 0.301). Mean postoperative CQ-PTA3 was significantly better for + ABR (1.8 vs. 12.3 dB-HL; p = 0.006). Mean intraoperative ABR threshold was superior for cartilage-counter-bearing and cartilage-housing compared to additional fixation with injectable-platelet-rich- fibrin (53 vs. 56 & 57 dB-HL, respectively; p = 0.04; η2 = 0.33). Mean postoperative BC-PTA3 did not significantly differ between patients (41.4 vs. 41.8 dB-HL; p = 0.77). A total of 7% of the patients required intraoperative readjustment of the FMT based on unsatisfactory intraoperative ABR threshold. CONCLUSION: Intraoperative ABR measurement resulted in significantly better postoperative CQ. Cartilage-counter-bearing and cartilage-housing were observed to have superior CQ. A total of 7% of the patients could be spared revision-Vibroplasty due to intraoperative ABR measurement.

Cochlear implant referral patterns in the UK suggest a postcode lottery with inequitable access for older adults; results of a pilot audit in five Audiology sites.

OBJECTIVE: To use a standardised reporting tool to identify potential eligible candidates for cochlear implant (CI) referral and quantify the proportion of adults who had a CI referral discussion after presenting with an audiogram within United Kingdom (UK) audiometric criteria. DESIGN: Retrospective multicentre 6-month audit of Audiology clinic databases. STUDY SAMPLE: A total of 810 adults from five geographically diverse UK Audiology sites. RESULTS: Data were collected in late 2019 after UK CI audiometric candidacy criteria changed; one site collected only 3 months of data. The proportion of potential eligible adults (based only on audiometry) considered for CI referral was 64% (521 out of 810) and varied by site (from 50% to 83%). About 24% of patients (123 out of 521) declined CI referral; this also varied across sites (12-45%). The median age of patients where CI referral was not considered was 80 years - significantly higher than the group where CI referral was considered (73 years). CONCLUSIONS: CI referral is dependent on where adults live, and how old they are. Older adults are significantly less likely to be considered for CI referral by Audiologists. Audiology clinics need more support to empower staff to talk to patients about CI referral.

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 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.

The Use of Snoezelen to Support People With Profound Intellectual and Multiple Disabilities: An International Survey Describing the Perspectives of Support Persons.

BACKGROUND: Snoezelen is often used for people with profound intellectual and multiple disabilities, but scarcely evaluated. This study aimed to provide insight into the application and perceived effects of snoezelen from the perspective of support persons. METHOD: We conducted an international survey with professionals (n = 130) and relatives (n = 8) supporting people with profound intellectual and multiple disabilities. Information regarding the application and perceived effects was gathered. Content and descriptive analysis were used. RESULTS: Despite variation, common characteristics were identified regarding purpose, approach and context. Perceived positive effects mostly concerned improved mental health of the person receiving snoezelen (n = 88). A person-centred approach was reported as important element for positive effects. CONCLUSIONS: This study describes the use of snoezelen for people with profound intellectual and multiple disabilities. These insights can be used for future research into working elements and effects of snoezelen and facilitate evidence-based support.

Discovering the Current 'State of Play' in Pain Recognition and Assessment for People With Profound Intellectual Disabilities by Nurses: An Appreciative Inquiry Approach.

BACKGROUND: Pain recognition and assessment in individuals with profound intellectual disabilities are challenging. Exploring effective methods of addressing this is essential. This study aims to discover current nursing practice in this area of care as the first of a four-phased appreciative inquiry study, to inform further research and practice. METHODS: Data from individual and focus group interviews with co-researching nurses were collated and developed into themes. RESULTS: Six themes were identified: unconditional positive regard, honouring of relationship, creative best practice, pain through a competing lens, accurate assessment-an impossible task? Medicating pain-oversimplified and undervalued? CONCLUSION: Relationship is essential, in recognising pain and distress. There is an understanding of the multifaceted nature of pain in the care of this population; however, physical pain recognition and assessment are prioritised, to prevent serious ill health and death. Formal methods of assessment and communication between professionals are needed.

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.

Transition to adulthood of adolescents with profound intellectual and multiple disabilities: Content validation of the SGU-PIMD to support families.

BACKGROUND: For families with adolescent children, the transition to adulthood is usually challenging. This period may be extra demanding for families with a child with profound intellectual and multiple disabilities due to the child's strong and persistent support needs. To support these families during this phase and to facilitate the transition process of these adolescents, we adapted the Canadian skills for growing up (SGU) into the skills for growing up-profound intellectual and multiple disabilities (SGU-PIMD). The aim of this study is to determine its content validity. METHOD: A Delphi study with family members and healthcare professionals was conducted. RESULTS: Results showed good content validity. However, the Delphi panel suggested minor adjustments to improve relevance, comprehensibility and comprehensiveness. CONCLUSIONS: The current SGU-PIMD can be used in practice for supporting adolescents with profound intellectual and multiple disabilities. However, there are also recommendations for research into the feasibility and acceptability of the instrument.

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.

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.

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.

'What if I'm no longer around?': An evaluative description of a structured group conversation about the care for persons with profound intellectual and multiple disabilities when they outlive their parents.

BACKGROUND: Persons with profound intellectual and multiple disabilities (PIMD) increasingly outlive their parents. Therefore, we designed a structured group conversation to support family members and care professionals in exploring together how parental roles may be taken over by others when necessary. METHOD: We conducted a mixed methods study, with a focus on the qualitative data, to describe and evaluate three group conversations. RESULTS: Family members (n = 22) of persons with PIMD who live in residential care facilities and care professionals (n = 9) evaluated the structured group conversation as valuable. While both parties reported that the group conversation (re)sparked their attention for the topic, mostly family members planned to take concrete action as a result of it. CONCLUSIONS: The group conversation encourages parents to communicate explicitly about the future care for their child with PIMD, and offers both family members and care professionals support in exploring this future care together.

Curriculum effectiveness for secondary-aged students with severe intellectual disabilities or profound and multiple learning difficulties in Australia: Teacher perspectives.

The active inclusion of students within education systems relies on a curriculum that caters to all. This article presents partial findings from Australian mixed methods research examining 46 teacher perspectives on the curriculum and its ability to support their practice in supporting students aged 12-19 years with severe intellectual disability or profound and multiple learning difficulties who attend specialist school settings. Results reveal that Australian teachers see the current curriculum as insufficient in its design and content and unable to cater to their students educational and social capacities or needs. Strengths essential to the reform process are highlighted, emergent challenges discussed and recommendations for future action are presented.

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.

Comparison of two different doses of dexmedetomidine for continuous epidural analgesia for lower limb surgeries: A randomized double-blind study.

Background and Aims: Bolus epidural dexmedetomidine provides potent analgesia but the incidence of hemodynamic instability is high. There are only a few studies that have evaluated the efficacy of epidural dexmedetomidine infusion but none of them compared different doses to find the optimum safe dose. We compared the analgesic efficacy and safety of two different doses of dexmedetomidine in continuous epidural for postoperative analgesia. Material and Methods: Patients undergoing lower limb surgeries were divided randomly into two groups: Group I (n = 36) received an epidural infusion of 0.1% ropivacaine + 0.5 µg/kg/24 h of dexmedetomidine and Group II (n = 36) received epidural infusion 0.1% ropivacaine + 1 µg/kg/24 h of dexmedetomidine. Both groups received epidural infusion at the rate of 5 ml/h over 48 h postoperatively. Pain scores, demand for rescue analgesics, hemodynamic parameters, and sedation scores were compared between the groups. Statistical analysis was done using an independent t-test and Chi-square test. Results: 1 µg/kg group (Group II) had a significantly reduced pain score at all time intervals and less demand for rescue analgesia (P = 0.03). The severity of pain was more in the 0.5 µg/kg group (Group I), at all times (P = 0.000). Incidence hypotension was higher in Group II. Bradycardia was seen in two patients in Group II and none in Group I. Conclusion: Dexmedetomidine in a dose of 1 µg/kg/24 h with 5 ml of 0.1% ropivacaine through epidural infusion provides better analgesia with a safe hemodynamic profile.

A novel biallelic variant further delineates PRDX3-related autosomal recessive cerebellar ataxia.

Cerebellar ataxias (CAs) comprise a rare group of neurological disorders characterized by extensive phenotypic and genetic heterogeneity. In the last several years, our understanding of the CA etiology has increased significantly and resulted in the discoveries of numerous ataxia-associated genes. Herein, we describe a single affected individual from a consanguineous family segregating a recessive neurodevelopmental disorder. The proband showed features such as global developmental delay, cerebellar atrophy, hypotonia, speech issues, dystonia, and profound hearing impairment. Whole-exome sequencing and Sanger sequencing revealed a biallelic nonsense variant (c.496A > T; p.Lys166*) in the exon 5 of the PRDX3 gene that segregated perfectly within the family. This is the third report that associates the PRDX3 gene variant with cerebellar ataxia. In addition, associated hearing impairment further delineates the PRDX3 associated gene phenotypes.

A Novel Biallelic LCK Variant Resulting in Profound T-Cell Immune Deficiency and Review of the Literature.

Lymphocyte-specific protein tyrosine kinase (LCK) is an SRC-family kinase critical for initiation and propagation of T-cell antigen receptor (TCR) signaling through phosphorylation of TCR-associated CD3 chains and recruited downstream molecules. Until now, only one case of profound T-cell immune deficiency with complete LCK deficiency [1] caused by a biallelic missense mutation (c.1022T>C, p.L341P) and three cases of incomplete LCK deficiency [2] caused by a biallelic splice site mutation (c.188-2A>G) have been described. Additionally, deregulated LCK expression has been associated with genetically undefined immune deficiencies and hematological malignancies. Here, we describe the second case of complete LCK deficiency in a 6-month-old girl born to consanguineous parents presenting with profound T-cell immune deficiency. Whole exome sequencing (WES) revealed a novel pathogenic biallelic missense mutation in LCK (c.1393T>C, p.C465R), which led to the absence of LCK protein expression and phosphorylation, and a consecutive decrease in proximal TCR signaling. Loss of conventional CD4+ and CD8+ αßT-cells and homeostatic T-cell expansion was accompanied by increased γδT-cell and Treg percentages. Surface CD4 and CD8 co-receptor expression was reduced in the patient T-cells, while the heterozygous mother had impaired CD4 and CD8 surface expression to a lesser extent. We conclude that complete LCK deficiency is characterized by profound T-cell immune deficiency, reduced CD4 and CD8 surface expression, and a characteristic TCR signaling disorder. CD4 and CD8 surface expression may be of value for early detection of mono- and/or biallelic LCK deficiency.