Biallelic ZBTB11 Variants: A Neurodevelopmental Condition with Progressive Complex Movement Disorders.

BACKGROUND: Biallelic ZBTB11 variants have previously been associated with an ultrarare subtype of autosomal recessive intellectual developmental disorder (MRT69). OBJECTIVE: The aim was to provide insights into the clinical and genetic characteristics of ZBTB11-related disorders (ZBTB11-RD), with a particular emphasis on progressive complex movement abnormalities. METHODS: Thirteen new and 16 previously reported affected individuals, ranging in age from 2 to 50 years, with biallelic ZBTB11 variants underwent clinical and genetic characterization. RESULTS: All patients exhibited a range of neurodevelopmental phenotypes with varying severity, encompassing ocular and neurological features. Eleven new patients presented with complex abnormal movements, including ataxia, dystonia, myoclonus, stereotypies, and tremor, and 7 new patients exhibited cataracts. Deep brain stimulation was successful in treating 1 patient with generalized progressive dystonia. Our analysis revealed 13 novel variants. CONCLUSIONS: This study provides additional insights into the clinical features and spectrum of ZBTB11-RD, highlighting the progressive nature of movement abnormalities in the background of neurodevelopmental phenotype. © 2024 The Author(s). Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.

The development of a Self-Rated ICF-based questionnaire (HEAR-COMMAND Tool) to evaluate Hearing, Communication, and Conversation disability: Multinational experts' and patients' perspectives.

Objective: An instrument that facilitates the advancement of hearing healthcare delivery from a biomedical model to a biopsychosocial one that underpins the International Classification of Functioning, Disability, and Health framework (ICF) brief and comprehensive Core Sets for Hearing Loss (CSHL) is currently unavailable. The objective is to describe the process of developing and validating a new questionnaire named the HEAR-COMMAND Tool created by transferring the ICF CSHL into a theory-supported, practically manageable concept. Design: A team from Germany, the USA, the Netherlands, and Egypt collaborated on development. The following ICF domains were considered; "Body Functions" (BF), "Activities and Participation" (AP), and "Environmental Factors" (EF). The development yielded English, German, and Arabic versions. A pilot validation study with a total of 109 respondents across three countries, Germany, Egypt, and the USA was conducted to revise the item terminology according to the feedback provided by the respondents. Results: The questionnaire included a total of 120 items. Ninety items were designed to collect information on the functioning and 30 items inquiring about demographic information, hearing status, and Personal Factors. Except for the "Body Structures" (BS) domain, all the categories of the brief ICF CSHL were covered (a total of 85% of the categories). Moreover, the items covered 44% of the comprehensive ICF CSHL categories including 73% of BF, 55% of AP, and 27% of EF domains. Overall, the terminology of 24 ICF-based items was revised based on the qualitative analysis of the respondents' feedback to further clarify the items that were found tod be unclear or misleading. The tool highlighted the broad connection of HL with bodily health and contextual factors. Conclusions: The HEAR-COMMAND Tool was developed based on the ICF CSHL and from multinational experts' and patients' perspectives with the aim to improve the execution of audiological services, treatment, and rehabilitation for adult patients with HL. Additional validation of the tool is ongoing. The next step would be to pair the tool with BS categories since it was excluded from the tool and determine its effectiveness in guiding hearing health care practitioners to holistically classify categories influencing hearing, communication, and conversation disability.

Expanding the clinical spectrum of primary coenzyme Q10 deficiency type 6: The first case with cardiomyopathy.

We report a 19-month-old patient with cardiomyopathy as the first presenting feature of primary COQ10 deficiency-6. This case expands the phenotypic spectrum of this disorder. Furthermore, it shows that genetic testing for primary COQ10 deficiency should be considered in patients with pediatric-onset cardiomyopathy as it can guide treatment options.

The Longitudinal Relationship Between Speech Recognition in Noise, Need for Recovery After Work, Job Demand, and Job Control Over a Period of 5 Years.

OBJECTIVE: Hearing impairment may lead to an increased need to recover from fatigue and distress after a day of work. Also, hearing impairment may negatively affect the balance between workload and control over it (job demand and job control). The uptake of hearing solutions may have a positive effect on these outcomes. We aimed to assess the longitudinal relationship between change in speech recognition in noise and changes in need for recovery after work and job demand and job control, and the influence of hearing solutions on these relationships over a period of 5 years. Research questions (RQs) were as follows: (1) Is a 5-year change in speech recognition in noise associated with a change in need for recovery after work over that same 5-year period?; (2) Is a 5-year change in speech recognition in noise associated with a change in job demand and job control over that same 5-year period?; (3) What is the effect of hearing solution uptake in the 5-year period on the change in these outcomes in that same 5-year period? METHOD: Data of the Netherlands Longitudinal Study on Hearing, collected between 2006 and January 2019, were divided into two 5-year follow-up intervals: T0 (baseline) to T1 (5-year follow-up) and T1 (5-year follow-up) to T2 (10-year follow-up). An online digit-triplet in noise test was used to assess speech recognition in noise. Online questionnaires on demographic, socioeconomic, and work-related characteristics were administered. For RQ1-RQ2, the study sample included adults working ≥12 hours per week, with at least two consecutive measurements (n = 783). For RQ3, employees who had not yet obtained hearing solutions at baseline, but who would be eligible based on a speech reception threshold in noise ≥ -5.5 dB signal-to-noise ratio (SNR), were included (n = 147). Longitudinal linear regression analyses using mixed models were performed to assess RQ1-RQ3. RESULTS: After adjusting for baseline values, 5-year change in speech recognition in noise showed a statistically significant association with 5-year change in need for recovery. A worsening of 1 dB SNR in speech recognition in noise in an individual was associated with an increase of 0.72 units in need for recovery (scale range 0 to 100). A 5-year change in speech recognition in noise was not significantly associated with a 5-year change in job demand or job control. The uptake of hearing solutions in the 5-year period did not have a significant effect on change in need for recovery in that same 5-year period. CONCLUSION: The significant longitudinal association between 5-year worsening in speech recognition in noise and increase in need for recovery over the same time period strengthens the evidence for the importance of early detection of a worsening in speech recognition in noise to identify employees with an increase in need for recovery. The absence of an effect of the uptake of a hearing solution on need for recovery indicates that additional alternative interventions may be needed to foster beneficial use of hearing solutions as well as to mitigate the increased need for recovery in case of worsening speech recognition in noise.

Uptake of Hearing Aids and Hearing Assistive Technology in a Working Population: Longitudinal Analyses of The Netherlands Longitudinal Study on Hearing.

OBJECTIVE: To identify predictors of the 5-year uptake of hearing aids (HAs) and hearing assistive technology (HAT) in a sample of Dutch employees eligible for HAs and/or HAT. The potential predictors included demographic factors (age, sex, marital status, and living situation), education, hearing factors (ability to recognize speech in noise and self-reported hearing disability), distress, self-efficacy, and work-related factors (job demand, job control, and need for recovery). DESIGN: Five-year follow-up data of the Netherlands Longitudinal Study on Hearing (NL-SH) collected until January 2019 were included. An online digit-triplet in noise test, the National Hearing Test (NHT), was used to assess speech-recognition-in-noise ability. In addition, online questionnaires on demographic, socioeconomic, self-reported hearing disability, health, and work-related characteristics were administered. Adults who worked over 12 hours per week, who had not yet taken up HAs or HAT, but who would be eligible for HAs/HAT based on their NHT score (insufficient or poor hearing ability), were included in the study. The 5-year uptake of HAs/HAT was defined as a dichotomous variable of self-reported HA/HAT use reported 5 years later. Generalized Estimating Equations analyses were performed to analyze the associations between potential predicting factors and the 5-year uptake of HAs/HAT, taking into account the repeated measurements of the predicting factors and the 5-year uptake of HAs/HAT. RESULTS: Data of 218 participants were included. The cumulative incidence of the 5-year uptake of HAs/HAT was 15 to 33%, of which 52 employees took up HAs and 11 employees took up HAT. Married participants had increased odds for 5-year uptake of HAs/HAT compared with unmarried participants (odds ratio [OR] = 2.13, 95% confidence interval [CI] = 1.05 to 4.35). Higher self-reported hearing disability (per one unit, scale range 0 to 74) was associated with increased odds for 5-year uptake of HAs/HAT (OR = 1.05, 95% CI = 1.03 to 1.07). Job demand showed a significant interaction with sex (p = 0.002), and therefore, stratified analyses were performed. In male participants, participants with higher job demand scores (per one unit, scale range 12 to 48) had increased odds for 5-year uptake of HAs/HAT (OR = 1.18, 95% CI = 1.05 to 1.35). No difference was seen in females. CONCLUSION: This study confirms that factors predicting the uptake of HAs/HAT in the general or older populations, including marital status and self-reported hearing disability, also extend to the working population. The identification of job demand as a predictor of the uptake of HAs/HAT (in males only) was a novel finding. It demonstrates the importance of considering work-related factors in aural rehabilitation.

Syndromic disorders caused by gain-of-function variants in KCNH1, KCNK4, and KCNN3-a subgroup of K+ channelopathies.

Decreased or increased activity of potassium channels caused by loss-of-function and gain-of-function (GOF) variants in the corresponding genes, respectively, underlies a broad spectrum of human disorders affecting the central nervous system, heart, kidney, and other organs. While the association of epilepsy and intellectual disability (ID) with variants affecting function in genes encoding potassium channels is well known, GOF missense variants in K+ channel encoding genes in individuals with syndromic developmental disorders have only recently been recognized. These syndromic phenotypes include Zimmermann-Laband and Temple-Baraitser syndromes, caused by dominant variants in KCNH1, FHEIG syndrome due to dominant variants in KCNK4, and the clinical picture associated with dominant variants in KCNN3. Here we review the presentation of these individuals, including five newly reported with variants in KCNH1 and three additional individuals with KCNN3 variants, all variants likely affecting function. There is notable overlap in the phenotypic findings of these syndromes associated with dominant KCNN3, KCNH1, and KCNK4 variants, sharing developmental delay and/or ID, coarse facial features, gingival enlargement, distal digital hypoplasia, and hypertrichosis. We suggest to combine the phenotypes and define a new subgroup of potassium channelopathies caused by increased K+ conductance, referred to as syndromic neurodevelopmental K+ channelopathies due to dominant variants in KCNH1, KCNK4, or KCNN3.

Identifying the approaches used by audiologists to address the psychosocial needs of their adult clients.

OBJECTIVE: To identify the approaches taken by audiologists to address their adult clients' psychosocial needs related to hearing loss. DESIGN: A participatory mixed methods design. Participants generated statements describing the ways in which the psychosocial needs of their adult clients with hearing loss are addressed, and then grouped the statements into themes. Data were obtained using face-to-face and online structured questions. Concept mapping techniques were used to identify key concepts and to map each of the concepts relative to each other. STUDY SAMPLE: An international sample of 65 audiologists. RESULTS: Ninety-three statements were generated and grouped into seven conceptual clusters: Client Empowerment; Use of Strategies and Training to Personalise the Rehabilitation Program; Facilitating Peer and Other Professional Support; Providing Emotional Support; Improving Social Engagement with Technology; Including Communication Partners; and Promoting Client Responsibility. CONCLUSIONS: Audiologists employ a wide range of approaches in their attempt to address the psychosocial needs associated with hearing loss experienced by their adult clients. The approaches described were mostly informal and provided in a non-standardised way. The majority of approaches described were not evidence-based, despite the availability of several options that are evidence-based, thus highlighting the implementation gap between research and clinical practice.

Audiological approaches to address the psychosocial needs of adults with hearing loss: perceived benefit and likelihood of use.

OBJECTIVE: To explore the perceived benefit and likely implementation of approaches used by audiologists to address their adult clients' psychosocial needs related to hearing loss. DESIGN: Adults with hearing loss and audiologists completed separate, but related, surveys to rate their perceived benefit and also their likely use of 66 clinical approaches (divided over seven themes) that aim to address psychosocial needs related to hearing loss. STUDY SAMPLE: A sample of 52 Australian adults with hearing loss, and an international sample of 19 audiologists. RESULTS: Overall, participants rated all of the approaches highly on both benefit and likelihood of use; the highest ranked theme was Providing Emotional Support. Cohort comparisons showed that audiologists ranked the approaches significantly higher than did adults with hearing loss. Overall, participants ranked the themes higher on benefit than on the likelihood to use scales. CONCLUSIONS: Adults with hearing loss and audiologists recognise the importance of approaches that address the psychosocial impacts of hearing loss in audiological rehabilitation. However, both groups placed slightly greater value on the internal-based approaches (the clients own emotional response, empowerment, and responsibility), and slightly less emphasis on the external-based approaches (being supported by communication partners, support groups or other health professionals).

Operationalization of the Brief ICF Core Set for Hearing Loss: An ICF-Based e-Intake Tool in Clinical Otology and Audiology Practice.

OBJECTIVES: According to the International Classification of Functioning, Disability and Health (ICF), functioning reflects the interplay between an individual's body structures and functions, activities, participation, environmental, and personal factors. To be useful in clinical practice, these concepts need to be operationalized into a practical and integral instrument. The Brief ICF Core Set for Hearing Loss (CSHL) provides a minimum standard for the assessment of functioning in adults with hearing loss. The objective of the present study was to operationalize the Brief CSHL into a digital intake tool that could be used in the otology-audiology practice for adults with ear and hearing problems as part of their intake assessment. DESIGN: A three-step approach was followed: (1) Selecting and formulating questionnaire items and response formats, using the 27 categories of the Brief CSHL as a basis. Additional categories were selected based on relevant literature and clinical expertise. Items were selected from existing, commonly used disease-specific questionnaires, generic questionnaires, or the WHO's official descriptions of ICF categories. The response format was based on the existing item's response categories or on the ICF qualifiers. (2) Carrying out an expert survey and a pilot study (using the three-step test interview. Relevant stakeholders and patients were asked to comment on the relevance, comprehensiveness, and comprehensibility of the items. Results were discussed in the project group, and items were modified based on consensus. (3) Integration of the intake tool into a computer-based system for use in clinical routine. RESULTS: The Brief CSHL was operationalized into 62 items, clustered into six domains: (1) general information, including reason for visit, sociodemographic, and medical background; (2) general body functions; (3) ear and hearing structures and functions; (4) activities and participation (A&P); (5) environmental factors (EF); and (6) personal factors (mastery and coping). Based on stakeholders' responses, the instructions of the items on A&P and EF were adapted. The three-step test interview showed that the tool had sufficient content validity but that some items on EF were redundant. Overall, the stakeholders and patients indicated that the intake tool was relevant and had a logical and clear structure. The tool was integrated in an online portal. CONCLUSIONS: In the current study, an ICF-based e-intake tool was developed that aims to screen self-reported functioning problems in adults with an ear/hearing problem. The relevance, comprehensiveness, and comprehensibility of the originally proposed item list was supported, although the stakeholder and patient feedback resulted into some changes of the tool on item-level. Ultimately, the functioning information obtained with the tool could be used to promote patient-centered ear and hearing care taking a biopsychosocial perspective into account.

Proposal to extend the PROMIS® item bank v2.0 'Ability to Participate in Social Roles and Activities': item generation and content validity.

PURPOSE: Previous research indicated that the Patient-Reported Outcomes Measurement Information System (PROMIS®) item bank v2.0 'Ability to Participate in Social Roles and Activities' may miss subdomains of social participation. The purpose of this study was to generate items for these missing subdomains and to evaluate their content validity. METHODS: A three-step approach was followed: (1) Item generation for 16 International Classification of Functioning Disability and Health subdomains currently not covered by the item bank; (2) Evaluation of content validity of generated items through expert review (n = 20) and think-aloud interviews with a purposeful sample of people with and without (chronic) health conditions (n = 10), to assess item comprehensibility, relevance, and comprehensiveness; and 3) Item revision based on the results of step 2, in a consensus procedure. RESULTS: First, 48 items were generated. Second, overall, content experts indicated that the generated items were relevant. Furthermore, based on experts' responses, items were simplified and 'participation in social media' was identified as an important additional subdomain of social participation. Additionally, 'participating in various social roles simultaneously' was identified as a missing item. Based on the responses of the interviewed adults items were simplified. Third, in total 17 items, covering 17 subdomains, were proposed to be added to the original item bank. DISCUSSION: The relevance, comprehensibility and comprehensiveness of the 17 proposed items were supported. Whether the proposed extension of the item bank leads to better psychometric properties of the item bank should be tested in a large-scale field study.

The Otology Questionnaire Amsterdam: A generic patient-reported outcome measure about the severity and impact of ear complaints. Validation, reliability and responsiveness.

OBJECTIVE: To examine the construct validity, reliability and responsiveness of the Otology Questionnaire Amsterdam (OQUA). DESIGN: Multicentre, longitudinal study in 2 separate cohorts of patients visiting an ENT surgeon via an online survey programme. SETTING: Tertiary ENT clinics. PARTICIPANTS: Cohort 1 consisted of patients at their first visit at an ENT outpatient clinic with an ear complaint. Cohort 2 consisted of patients who underwent surgery, with a 3-month follow-up post-surgery. MAIN OUTCOME MEASURES: Construct validity: Hypothesis testing, internal consistency and inter-item correlation. Reliability: Test-retest reliability. The construct approach was used for assessing responsiveness. Hypotheses were formulated based on the association between the OQUA and Glasgow Health Status Inventory (GHSI) or Global Rating Scale (GRS). RESULTS: Construct validity: The correlation between the individual items in the impact domain ranged from 0.424 to 0.737. Confirmatory factor analysis showed a good fit. As expected, the OQUA impact showed strong relationships with GHSI total and general scale. Reliability: The test-retest reliability coefficient ranged from 0.541 to 0.838. Responsiveness: All hypotheses were conformed. As expected, the change score of the OQUA showed good correlation between OQUA impact and GHSI and moderate correlation between the GRS and OQUA complaints. CONCLUSION: The OQUA has 8 complaint domains (earache, pressure sensation, itching, tinnitus, hearing loss, ear discharge, loss of taste and dizziness) and 1 impact domain. Each domain results in one score of 0-100. The OQUA shows good results for construct validity, (test-retest) reliability and responsiveness, supporting the potential benefit for the patient with an ear complaint visiting the ENT surgeon. The extensive validation furthermore confirms a certified generic otology PROM with an impact and a complaints' part, to be used in different types of otologic interventions and patient groups.

Developing an intervention to implement an ICF-based e-intake tool in clinical otology and audiology practice.

Objective: To develop an intervention for the implementation of an ICF-based e-intake tool in clinical oto-audiology practice.Design: Intervention design study using the eight-stepped Behaviour Change Wheel. Hearing health professionals' (HHPs) and patients' barriers to and enablers of the use of the tool were identified in our previous study (steps 1-4). Following these steps, relevant intervention functions and policy categories were selected to address the reported barriers and enablers (steps 5-6); and behaviour change techniques and delivery modes were chosen for the selected intervention functions (steps 7-8).Results: For HHPs, the intervention functions education, training, enablement, modelling, persuasion and environmental restructuring were selected (step 5). Guidelines, service provision, and changes in the environment were identified as appropriate policy categories (step 6). These were linked to nine behaviour change techniques (e.g. information on health consequences), delivered through educational/training materials and workshops, and environmental factors (steps 7-8). For patients, the intervention functions education and enablement were selected, supported through service provision (steps 5-6). These were linked to three behaviour change techniques (e.g. environmental factors), delivered through their incorporation into the tool (steps 7-8).Conclusions: A multifaceted intervention was proposed to support the successful implementation of the intake tool.

Comparing the International Classification of Functioning, Disability, and Health Core Sets for Hearing Loss and Otorhinolaryngology/Audiology Intake Documentation at Mayo Clinic.

OBJECTIVES: The International Classification of Functioning, Disability, and Health (ICF) Core Sets for Hearing Loss (CSHL) consists of short lists of categories from the entire ICF classification that are thought to be the most relevant for describing the functioning of persons with hearing loss. A comprehensive intake that covers all factors included in the ICF CSHL holds the promise of developing a tailored treatment plan that fully complements the patient's needs. The Comprehensive CSHL contains 117 categories and serves as a guide for multiprofessional, comprehensive assessment. The Brief CSHL includes 27 of the 117 categories and represents the minimal spectrum of functioning of persons with HL for single-discipline encounters or clinical trials. The authors first sought to benchmark the extent to which Audiologist (AUD) and Otorhinolaryngologist (ORL) discipline-specific intake documentation, as well as Mayo Clinic's multidisciplinary intake documentation, captures ICF CSHL categories. DESIGN: A retrospective study design including 168 patient records from the Department of Otorhinolaryngology/Audiology of Mayo Clinic in Jacksonville, Florida. Anonymized intake documentation forms and reports were selected from patient records filed between January 2016 and May 2017. Data were extracted from the intake documentation forms and reports and linked to ICF categories using pre-established linking rules. "Overlap," defined as the percentage of ICF CSHL categories represented in the intake documentation, was calculated across document types. In addition, extra non-ICF CSHL categories (ICF categories that are not part of the CSHL) and extra constructs (constructs that are not part of the ICF classification) found in the patient records were described. RESULTS: The total overlap of multidisciplinary intake documentation with ICF CSHL categories was 100% for the Brief CSHL and 50% for the Comprehensive CSHL. Brief CSHL overlap for discipline-specific documentation fell short at 70% for both AUD and ORL. Important extra non-ICF CSHL categories were identified and included "sleep function" and "motor-related functions and activities," which mostly were reported in relation to tinnitus and vestibular disorders. CONCLUSION: The multidisciplinary intake documentation of Mayo Clinic showed 100% overlap with the Brief CSHL, while important areas of nonoverlap were identified in AUD- and ORL-specific reports. The ICF CSHL provides a framework for describing each hearing-impaired individual's unique capabilities and needs in ways currently not documented by audiological and otological evaluations, potentially setting the stage for more effective individualized patient care. Efforts to further validate the ICF CSHL may require the involvement of multidisciplinary institutions with commonly shared electronic health records to adequately capture the breath of the ICF CSHL.

Barriers to and enablers of the implementation of an ICF-based intake tool in clinical otology and audiology practice-A qualitative pre-implementation study.

The authors are developing an intake tool based on the Brief International Classification of Functioning Disability and Health Core Set for Hearing Loss, by operationalizing its categories into a Patient Reported Outcome Measure. This study was aimed at identifying enablers and barriers to using this tool as perceived by hearing health professionals (HHPs) and patients. Focus groups and interviews were held with HHPs (ENT surgeons, N = 14; audiologists, N = 8) and patients (N = 18). Interview questions were based on the Capability-Opportunity-Motivation-Behavior (COM-B) model. Using the COM-B model and the Theoretical Domains Framework (TDF), transcript fragments were divided into meaning units, which were then categorized into capability-, opportunity- and motivation-related barriers and enablers. These were further specified into TDF domains. HHP barriers included: lack of time to use the tool (O); and fear of being made responsible for addressing any emerging problems, which may be outside the expertise of the HHP (M). Enablers included integration of the tool in the electronic patient record (O); opportunity for the patient to be better prepared for the intake visit (M); and provision of a complete picture of the patient's functioning via the tool (M). Patient' barriers included fear of losing personal contact with the HHP (M); and fear that use of the tool might negatively affect conversations with the HHP (M). Enablers included knowledge on the aim and relevance of the tool (C); expected better self-preparation (M); and a more focused intake (M). These findings suggest that an intervention is needed to enhance HHPs' knowledge, skills and motivation regarding the relevance and the clinical usefulness of the tool. Providing clear and specific information on the purpose of the tool can also enhance patient motivation. For both HHPs and patients, opportunities relating to the (digital) administration and the design of the tool provide additional targets for successful implementation.

Characteristics of Infants With Congenital Diaphragmatic Hernia Who Need Follow-Up of Pulmonary Hypertension.

OBJECTIVES: Pulmonary hypertension is one of the main causes of mortality and morbidity in patients with congenital diaphragmatic hernia. Currently, it is unknown whether pulmonary hypertension persists or recurs during the first year of life. DESIGN: Prospective longitudinal follow-up study. SETTING: Tertiary university hospital. PATIENTS: Fifty-two congenital diaphragmatic hernia patients admitted between 2010 and 2014. INTERVENTIONS: None. MEASUREMENTS AND MAIN RESULTS: Pulmonary hypertension was measured using echocardiography and electrocardiography at 6 and 12 months old. Characteristics of patients with persistent pulmonary hypertension were compared with those of patients without persistent pulmonary hypertension. At follow-up, pulmonary hypertension persisted in four patients: at 6 months old, in three patients (patients A-C), and at 12 months old, in two patients (patients C and D). Patients with persistent pulmonary hypertension had a longer duration of mechanical ventilation (median 77 d [interquartile range, 49-181 d] vs median 8 d [interquartile range, 5-15 d]; p = 0.002) and hospital stay (median 331 d [interquartile range, 198-407 d) vs median 33 d (interquartile range, 16-59 d]; p = 0.003) than patients without persistent pulmonary hypertension. The proportion of patients with persistent pulmonary hypertension (n = 4) treated with inhaled nitric oxide (100% vs 31%; p = 0.01), sildenafil (100% vs 15%; p = 0.001), and bosentan (100% vs 6%; p < 0.001) during initial hospital stay was higher than that of patients without persistent pulmonary hypertension (n = 48). At 6 months, all patients with persistent pulmonary hypertension were tube-fed and treated with supplemental oxygen and sildenafil. CONCLUSIONS: Less than 10% of congenital diaphragmatic hernia patients had persistent pulmonary hypertension at ages 6 and/or 12 months. Follow-up for pulmonary hypertension should be reserved for congenital diaphragmatic hernia patients with echocardiographic signs of persistent pulmonary hypertension at hospital discharge and/or those treated with medication for pulmonary hypertension at hospital discharge.

Risk Factors of Impaired Neuropsychologic Outcome in School-Aged Survivors of Neonatal Critical Illness.

OBJECTIVE: Until now, long-term outcome studies have focused on general cognitive functioning and its risk factors following neonatal extracorporeal membrane oxygenation and/or congenital diaphragmatic hernia. However, it is currently unknown which neuropsychological domains are most affected in these patients and which clinical variables can be used to predict specific neuropsychological problems. This study aimed to identify affected neuropsychological domains and its clinical determinants in survivors of neonatal extracorporeal membrane oxygenation and/or congenital diaphragmatic hernia. DESIGN: Prospective follow-up study. SETTING: Tertiary university hospital. PATIENTS: Sixty-five 8-year-old survivors of neonatal extracorporeal membrane oxygenation and/or congenital diaphragmatic hernia. INTERVENTIONS: None. MEASUREMENTS AND MAIN RESULTS: Intelligence, attention, memory, executive functioning and visuospatial processing were evaluated using validated tests and compared with Dutch reference data. Assessed risk factors of outcome were illness severity indicators, number of anesthetic procedures in the first year of life, and growth at 1 year. Patients had average intelligence (mean intelligence quotient ± SD, 95 ± 16), but significantly poorer sustained attention (mean z score ± SD, -2.73 ± 2.57), verbal (immediate, -1.09 ± 1.27; delayed, -1.14 ± 1.86), and visuospatial memory (immediate, -1.48 ± 1.02; delayed, -1.57 ± 1.01; recognition, -1.07 ± 3.10) than the norm. Extracorporeal membrane oxygenation-treated congenital diaphragmatic hernia patients had significantly lower mean intelligence quotient (84 ± 12) than other neonatal extracorporeal membrane oxygenation patients (94 ± 10) and congenital diaphragmatic hernia patients not treated with extracorporeal membrane oxygenation (100 ± 20). Maximum vasoactive-inotropic score was negatively associated with delayed verbal (B = -0.02; 95% CI, -0.03 to -0.002; p = 0.026) and visuospatial memory (B = -0.01; 95% CI, -0.02 to -0.001; p = 0.024). CONCLUSIONS: We found memory and attention deficits in 8-year-old neonatal extracorporeal membrane oxygenation and congenital diaphragmatic hernia survivors. The maximum dose of vasoactive medication was negatively associated with verbal and visuospatial memory, which may suggest an effect of early cerebral hypoperfusion in determining these abnormalities.

Congenital Diaphragmatic Hernia and Growth to 12 Years.

OBJECTIVES: Growth problems are reported in patients with congenital diaphragmatic hernia during the first years of life. However, it is unknown if poor growth persists during childhood. We therefore evaluated growth of patients longitudinally until 12 years of age. METHODS: This prospective study included 172 patients (43 treated with extracorporeal membrane oxygenation [ECMO]) born from 1999 to 2014. Z scores of height-for-age (HFA), weight-for-height, and distance-to-target height were calculated at 6 months of age and at 1, 2, 5, 8, and 12 years of age. Data were analyzed by using general linear models. RESULTS: At 1 year of age, the mean weight-for-height z score had declined in ECMO (-1.30, 95% confidence interval: -1.62 to -0.97) and non-ECMO patients (-0.72, 95% confidence interval: -0.91 to -0.54; P < .05). Thereafter in ECMO patients, the mean HFA z score deteriorated between 1 (-0.43, 95% confidence interval: -0.73 to -0.13) and 5 years of age (-1.08, 95% confidence interval: -1.38 to -0.78; P < .01). In non-ECMO patients, the mean HFA z score deteriorated between 2 (-0.35, 95% confidence interval: -0.53 to -0.17) and 5 years of age (-0.56, 95% confidence interval: -0.75 to -0.37; P = .002). At 12 years of age, the mean HFA z score was still less than the norm in both groups: ECMO (-0.67, 95% confidence interval: -1.01 to -0.33) versus non-ECMO (-0.49, 95% confidence interval: -0.77 to -0.20; P < .01). Adjusting for target height improved the mean height z scores but did not bring them to normal range. CONCLUSIONS: Poor linear growth persisted at 12 years of age. The pattern of early deterioration of weight gain followed by a decline in linear growth is suggestive of inadequate nutrition during infancy. Therefore, nutritional assessment and intervention should be started early and should be continued during childhood.

Measurement properties of the Arm Function in Multiple Sclerosis Questionnaire (AMSQ): a study based on Classical Test Theory.

PURPOSE: The construct validity, test-retest reliability, and measurement error of the Arm Function in Multiple Sclerosis Questionnaire (AMSQ) were examined. Additionally, the influence of administration-method on reliability and measurement error was investigated. METHOD: 112 Dutch adult MS-patients from an academic- and a residential care-facility participated. Questionnaires were administered on paper, online or as interview, and patients performed several performance tests. Construct validity was assessed by testing pre-defined hypotheses. Reliability was assessed using Intraclass Correlation Coefficients (ICCs), Standard Error of Measurements (SEMs) and Smallest Detectable Changes (SDCs). RESULTS: For construct validity (N = 105) 9 of 13 hypotheses were confirmed (69%). As expected, the AMSQ showed moderate to strong relationships with the instruments measuring similar constructs. The test-retest reliability coefficient was 0.96 (95% Confidence Interval 0.94-0.97); SEM was 6.3 (6.3% of scale range); SDC was 17.5 (on a sale from 0 to 100). Different administration-methods showed good reliability (ICC 0.88-0.94) and small standard errors (SEM 5.6-7.2). CONCLUSION: The AMSQ shows satisfying results for validity and excellent reliability; allowing for proper use in research. Due to a large SDC value, caution is needed when using the AMSQ in individual patient care. Further research should determine whether the SDC is smaller than the minimal important change. Implications for Rehabilitation The Arm Function in Multiple Sclerosis Questionnaire (AMSQ) measures activity limitations due to hand and arm functioning in patients with Multiple Sclerosis (MS). Results of this study confirm adequate validity and reliability of the AMSQ in patient with MS. The equivalence of scores from online, paper or interview administration is supported. A change score of ≥18 points on the scale of the AMSQ (on a scale 0-100) needs to occur to be certain a change beyond measurement error has occurred in an individual patient.

Nationwide Evaluation of Congenital Hypothyroidism Screening during Neonatal Extracorporeal Membrane Oxygenation.

BACKGROUND: Thyroid hormone concentrations may deviate from normal values during critical illness. This condition is known as nonthyroidal illness syndrome (NTIS), and it can influence the results of screening for congenital hypothyroidism (CH) during neonatal extracorporeal membrane oxygenation (ECMO). OBJECTIVES: To determine the incidence of aberrant CH screening results in ECMO-treated neonates, to identify possible determinants, and to follow up patients with abnormal thyroid hormone concentrations. METHODS: In this retrospective cohort study, we included 168 ECMO-treated neonates admitted from 2004 to 2014 and screened by protocol and divided them into the following 3 groups: group 1 (screened during ECMO, n = 107), group 2 (screened shortly before ECMO, n = 26), and group 3 (screened shortly after ECMO, n = 35). RESULTS: CH screening results were aberrant in 67.3% (72/107) of the neonates screened during ECMO, in 73.1% (19/26) of the neonates screened before ECMO, and in 31.4% (11/35) of the neonates screened after ECMO (p < 0.001). Of the neonates with an aberrant screening result, all but 2 (i.e. 98%) had a low thyroxine concentration with a normal thyrotropin concentration at screening, as is seen in NTIS. None was diagnosed with CH. Mortality did not significantly differ between neonates with an aberrant screening result (32.4%) and neonates with a normal screening result (22.7%; p = 0.18). Screening before ECMO (OR 5.92; 95% CI 1.93-18.20), screening during ECMO (OR 4.49; 95% CI 1.98-10.19), and a higher Pediatric Logistic Organ Dysfunction-2 score (OR 1.31; 95% CI 1.04-1.66) were associated with an aberrant screening result. CONCLUSIONS: Aberrant CH screening results were found in most ECMO-treated neonates screened before or during ECMO, which is likely due to NTIS. Follow-up of thyroid hormone concentrations is best started after recovery from critical illness. Our results suggest that thyroxine therapy is not required during ECMO.

Overlap and Nonoverlap Between the ICF Core Sets for Hearing Loss and Otology and Audiology Intake Documentation.

OBJECTIVES: The International Classification of Functioning Disability and Health (ICF) Core Sets for Hearing Loss (HL) were developed to serve as a standard for the assessment and reporting of the functioning and health of patients with HL. The aim of the present study was to compare the content of the intake documentation currently used in secondary and tertiary hearing care settings in the Netherlands with the content of the ICF Core Sets for HL. Research questions were (1) to what extent are the ICF Core Sets for HL represented in the Dutch Otology and Audiology intake documentation? (2) are there any extra ICF categories expressed in the intake documentation that are currently not part of the ICF Core Sets for HL, or constructs expressed that are not part of the ICF? DESIGN: Multicenter patient record study including 176 adult patients from two secondary, and two tertiary hearing care settings. The intake documentation was selected from anonymized patient records. The content was linked to the appropriate ICF category from the whole ICF classification using established linking rules. The extent to which the ICF Core Sets for HL were represented in the intake documentation was determined by assessing the overlap between the ICF categories in the Core Sets and the list of unique ICF categories extracted from the intake documentation. Any extra constructs that were expressed in the intake documentation but are not part of the Core Sets were described as well, differentiating between ICF categories that are not part of the Core Sets and constructs that are not part of the ICF classification. RESULTS: In total, otology and audiology intake documentation represented 24 of the 27 Brief ICF Core Set categories (i.e., 89%), and 60 of the 117 Comprehensive ICF Core Set categories (i.e., 51%). Various ICF Core Sets categories were not represented, including higher mental functions (Body Functions), civic life aspects (Activities and Participation), and support and attitudes of family (Environmental Factors). One extra ICF category emerged from the intake documentation that is currently not included in the Core Sets: sleep functions. Various Personal Factors emerged from the intake documentation that are currently not defined in the ICF classification. CONCLUSIONS: The results showed substantial overlap between the ICF Core Sets for HL and the intake documentation of otology and audiology, but also revealed areas of nonoverlap. These findings contribute to the evaluation of the content validity of the Core Sets. The overlap can be viewed as supportive of the Core Sets' content validity. The nonoverlap in Core Sets categories indicates that current Dutch intake procedures may not cover all aspects relevant to patients with ear/hearing problems. The identification of extra constructs suggests that the Core Sets may not include all areas of functioning that are relevant to Dutch Otology and Audiology patients. Consideration of incorporating both aspects into future intake practice deserves attention. Operationalization of the ICF Core Sets categories, including the extra constructs identified in this study, into a practical and integral intake instrument seems an important next step.