Muscle MRI in Patients With Oculopharyngeal Muscular Dystrophy: A Longitudinal Study

BACKGROUND AND OBJECTIVES: Oculopharyngeal muscular dystrophy (OPMD) is a rare progressive neuromuscular disease. MRI is one of the techniques that is used in neuromuscular disorders to evaluate muscle alterations. The aim of this study was to describe the pattern of fatty infiltration of orofacial and leg muscles using quantitative muscle MRI in a large national cohort and to determine whether MRI can be used as an imaging biomarker of disease progression in OPMD. METHODS: Patients with OPMD (18 years or older) were invited from the national neuromuscular database or by their treating physicians and were examined twice with an interval of 20 months, with quantitative MRI of orofacial and leg muscles to assess fatty infiltration which were compared with clinical measures. RESULTS: In 43 patients with genetically confirmed OPMD, the muscles that were affected most severely were the tongue (mean fat fraction: 37.0%, SD 16.6), adductor magnus (31.9%; 27.1), and soleus (27.9%; 21.5) muscles. The rectus femoris and tibialis anterior muscles were least severely affected (mean fat fractions: 6.8%; SD 4.7, 7.5%; 5.9). Eleven of 14 significant correlations were found between fat fraction and a clinical task in the corresponding muscles (r = -0.312 to -0.769, CI = -0.874 to -0.005). At follow-up, fat fractions had increased significantly in 17 of the 26 muscles: mean 1.7% in the upper leg muscles (CI = 0.8-2.4), 1.7% (1.0-2.3) in the lower leg muscles, and 1.9% (0.6-3.3) in the orofacial muscles (p < 0.05). The largest increase was seen for the soleus (3.8%, CI = 2.5-5.1). Correlations were found between disease duration and repeat length vs increased fat fraction in 7 leg muscles (r = 0.323 to -0.412, p < 0.05). DISCUSSION: According to quantitative muscle MRI, the tongue, adductor magnus and soleus show the largest fat infiltration levels in patients with OPMD. Fat fractions increased in several orofacial and leg muscles over 20 months, with the largest fat fraction increase seen in the soleus. This study supports that this technique is sensitive enough to show worsening in fat fractions of orofacial and leg muscles and therefore a responsive biomarker for future clinical trials.

Online monitoring of focal spasticity treatment with botulinum toxin in people with chronic stroke or hereditary spastic paraplegia: a feasibility study.

OBJECTIVE: To investigate the feasibility and usability of an online spasticity monitoring tool amongst people with hereditary spastic paraplegia or chronic stroke receiving botulinum toxin treatment, and their healthcare providers. METHODS: Mixed methods cohort study, measuring recruitment success and adherence to the monitoring in 3 rehabilitation institutions. In addition, the System Usability Scale (SUS) and interviews with patients and their healthcare providers were used for quantitative and qualitative analysis, respectively. A deductive directed content analysis was used for qualitative evaluation. RESULTS: Of the 19 persons with hereditary spastic paraplegia and 24 with stroke who enrolled in the study, recruitment success and adherence were higher amongst people with hereditary spastic paraplegia compared with stroke. Usability was found "marginal" by rehabilitation physicians and "good" by patients and physical therapists (SUS scores 69, 76, and 83, respectively). According to all participant groups, online monitoring potentially contributes to spasticity management if it is tailored to the actual needs and capabilities of patients, and if it can easily be integrated into the daily/working routines of all users. CONCLUSION: Online monitoring of spasticity in people with hereditary spastic paraplegia or stroke receiving treatment with botulinum toxin may be feasible, provided that the monitoring tool is tailored to the needs of all users.

Clinimetric Evaluation of the Experienced Communication in Dementia Questionnaire.

BACKGROUND AND OBJECTIVES: Tools to measure self-perceived communication between persons with early-stage dementia and their caregivers are lacking. Therefore, we developed a questionnaire for Experienced Communication in Dementia (ECD) with a patient version (ECD-P) and a caregiver version (ECD-C), which contains items on (a) caregiver competence, (b) social communication, (c) communication difficulties, and (d) experienced emotions. This article describes the feasibility and clinimetric evaluation of this instrument. RESEARCH DESIGN AND METHODS: A prospective observational cohort study was conducted with 57 dyads (community-dwelling person with dementia and primary caregiver). ECD-P, ECD-C, and measures on quality of life, caregiver burden, cognitive functioning, physical functioning, and functional independence were administered. After 2 weeks, the dyads filled out the ECD again. Feasibility (completion time and missing values per item), internal consistency (Cronbach's α), test-retest reliability (intraclass correlation coefficients [ICCs]), and construct validity (hypotheses testing with Spearman's r) were evaluated. RESULTS: Mean completion time was 10 min per questionnaire. ICCs for test-retest reliability ranged from 0.67 to 0.78, except for ECD-P2 (ICC = 0.31). Internal consistency ranged from α = 0.75 to 0.82 for ECD-P1 and all parts of ECD-C, except for ECD-P2 (α = 0.66). Correlation coefficients for convergent validity ranged from r = 0.31 to 0.69 and correlation coefficients for divergent validity were r < 0.20 and statistically insignificant. DISCUSSION AND IMPLICATIONS: Pending future research, the ECD, except part ECD-P2, seems to be a promising tool to measure experienced communication between persons with early-stage dementia and their caregivers.

Com-mens: a home-based logopaedic intervention program for communication problems between people with dementia and their caregivers - a single-group mixed-methods pilot study.

BACKGROUND: Communication difficulties are common in people with dementia, and often present from an early stage. However, direct treatment options for people with dementia that positively influence their daily communication are scarce. AIMS: To evaluate the potential impact and feasibility of a personalized logopaedic intervention. METHODS & PROCEDURES: A total of 40 community-dwelling persons with dementia and their caregivers were recruited. Five experienced speech and language therapists (SLTs) delivered the six-session Com-mens intervention at home. Com-mens aims to improve positive communication between people with dementia and their primary caregivers and comprises five elements: interactive history-taking, dynamic observational assessment, education about the consequences of dementia on communication, development and use of personalized communication tools, use motivational, and person-centred strategies by the SLT. We conducted a single-group mixed-methods pilot study with five measurements: baseline, directly after intervention, and at 3, 6 and 9 months follow-up. Semi-structured interviews and questionnaires for Experienced Communication in Dementia, quality of life, psychological well-being and caregiver burden were conducted. Process evaluation was performed by interviewing participants, drop-outs, SLTs and other stakeholders. OUTCOMES & RESULTS: A total of 32 dyads completed the intervention. Repeated measures analyses revealed no significant changes over time. In the interviews, participants reported a positive impact on their feelings, increased communication skills and better coping with the diagnosis. Participants would recommend the intervention to others. Facilitators were timely delivery, personalized content and adequate reimbursement. Barriers were unfamiliarity with Com-mens among referrers, an overburdened caregiver or disrupted family relationships. CONCLUSIONS & IMPLICATIONS: This newly developed logopaedic intervention is feasible and has a perceived positive impact on both people with dementia and their caregivers, which is confirmed by a stable pattern over a period of 1 year. Future comparative studies are needed to test the effectiveness of personalized interventions in this patient population. WHAT THIS PAPER ADDS: What is already known on the subject? SLTs are experts in the field of communication, but even though communication problems are common between people with dementia and their caregivers, there is a lack of logopaedic guidelines and materials for the direct treatment for this population. Interventions that are available either focus on (professional) caregivers only or aim to enhance cognitive functioning and do not target on joined communication. What this paper adds to the existing knowledge? A newly developed intervention called Com-mens can be provided by trained SLTs and takes an average of six 1-h sessions. The intervention is perceived to be valuable and feasible for people with dementia and their caregivers, by the participants themselves, as well as by healthcare professionals and other stakeholders. What are the potential or actual clinical implications of this work? Dissemination of this intervention will give SLTs skills, tools and materials to provide meaningful care to home-dwelling persons with dementia and their caregivers. Also, persons with dementia and their caregivers will receive education and materials that can help them increase their understanding of communication problems, enhance their communication skills and better cope with the communication problems that result from dementia. We consider the Com-mens intervention to be a valuable addition to the field of speech language therapy and dementia.

Enhancing the role of the social network in activity (re)engagement post-stroke: a focus group study with rehabilitation professionals.

BACKGROUND: People post-stroke are at risk of not being able to participate in valued activities. It is important that rehabilitation professionals prepare people post-stroke for the transition home and provide needed support when they live at home. Several authors have suggested that members of the broad social network should play an active role in rehabilitation. This includes informing them about the importance of activity (re)engagement post-stroke and learning strategies to provide support. It is not clear when and how the broad social network can best be equipped to provide adequate activity support. This study aimed to explore stroke professionals' perspectives on strategies that establish a social network that supports activity (re)engagement of people post-stroke, when strategies are best implemented, and the factors that influence the implementation of these strategies. METHODS: Two focus groups were executed. Content analysis was used to analyze the transcripts of the recorded conversations. RESULTS: Eighteen professionals with various professional backgrounds and roles in treating people post-stroke participated. Strategies to establish a supportive social network included identifying, expanding, informing, and actively engaging network members. Working with the network in the immediate post-stroke phase was regarded as important for improving long-term activity outcomes. Participants expressed that most strategies to equip the social network to support people post-stroke need to take place within community care. However, the participants experienced difficulties in implementing network strategies. Perceived barriers included interprofessional collaboration, professional knowledge, self-efficacy, and financial structures. CONCLUSIONS: Strategies to involve the social network of people post-stroke are not fully implemented. Although identifying members of a social network should begin during inpatient rehabilitation, the main part of actively engaging the network will have to take place when the people post-stroke return home. Implementing social network strategies requires a systematic process focusing on collaboration, knowledge, attitude, and skill development.

Process-Oriented Profiling of Speech Sound Disorders.

The differentiation between subtypes of speech sound disorder (SSD) and the involvement of possible underlying deficits is part of ongoing research and debate. The present study adopted a data-driven approach and aimed to identify and describe deficits and subgroups within a sample of 150 four to seven-year-old Dutch children with SSD. Data collection comprised a broad test battery including the Computer Articulation Instrument (CAI). Its tasks Picture Naming (PN), NonWord Imitation (NWI), Word and NonWord Repetition (WR; NWR) and Maximum Repetition Rate (MRR) each render a variety of parameters (e.g., percentage of consonants correct) that together provide a profile of strengths and weaknesses of different processes involved in speech production. Principal Component Analysis on the CAI parameters revealed three speech domains: (1) all PN parameters plus three parameters of NWI; (2) the remaining parameters of NWI plus WR and NWR; (3) MRR. A subsequent cluster analysis revealed three subgroups, which differed significantly on intelligibility, receptive vocabulary, and auditory discrimination but not on age, gender and SLPs diagnosis. The clusters could be typified as three specific profiles: (1) phonological deficit; (2) phonological deficit with motoric deficit; (3) severe phonological and motoric deficit. These results indicate that there are different profiles of SSD, which cover a spectrum of degrees of involvement of different underlying problems.

Muscle ultrasound is a sensitive biomarker in oculopharyngeal muscular dystrophy.

INTRODUCTION/AIMS: Oculopharyngeal muscular dystrophy (OPMD) is a late-onset, progressive muscle disease. Quantitative muscle ultrasound (QMUS) assesses structural changes in muscles and is a sensitive biomarker in neuromuscular disorders. Our aim of this study was to determine whether QMUS can detect muscle pathology and can be used as longitudinal imaging biomarker in OPMD. METHODS: Genetically confirmed OPMD patients, recruited by their treating physicians or from the national neuromuscular database, were examined twice, 20 months apart, using QMUS of orofacial and limb muscles, and measurements of functional capacity and muscle strength. Absolute echo intensity (AEI) and muscle thickness of all muscles were analyzed and correlated with clinical data. RESULTS: The tongue, deltoid, iliopsoas, rectus femoris, and soleus muscles showed increased AEI at baseline compared with normal values in 43 OPMD patients, with the rectus femoris being most often affected (51%).The AEI and muscle thickness of 9 of 11 muscles correlated significantly with the motor function measure, 10-step stair test, swallowing capacity, dynamometry, Medical Research Council grade, tongue strength, and bite force (r = 0.302 to -0.711). Between baseline and follow-up, deterioration in AEI was found for the temporalis, tongue, and deltoid muscles, and decreased muscle thickness was detected for the temporalis, masseter, digastric, tongue, deltoid, iliopsoas, and soleus muscles (P < .05). No relation was found between the change in AEI and repeat length or disease duration. DISCUSSION: QMUS detected muscle pathology and disease progression in OPMD over 20 months. We conclude that QMUS should be considered as a biomarker in treatment trials.

Educational programs for learning to observe movement quality in physical therapy: a design-based research approach.

Introduction: Movement observation is a core aspect in physical therapists' diagnosis to determine which interventions are adequate to improve functional abilities. The aim of this study was to derive design principles for an educational program for the development of observational skills.Methods: We used a qualitative approach within a design-based research methodology. In four rounds, 8 physical therapy students, 16 teachers, and 9 practitioners participated in five Nominal Group Technique meetings and six interviews. Meetings and interviews were transcribed verbatim and analyzed using thematic analysis.Results: We identified three themes, each with several design principles: (1) didactics; (2) professional content; and (3) conditions for optimal learning. We developed a proto-theory underpinned with underlying educational theories.Conclusions: To learn observational skills, students, facilitated by an experienced teacher, need to take the lead in their own learning process. This might imply a need for additional training for teachers. A realistic context is a precondition for learning; it might be necessary to increase possibilities for observations in clinical contexts or to invest in training for (simulated) patients as participants in education. Further research is needed to test the applicability of the design principles and a proto-theory for other professionals with a focus on observation and analysis of movements.

Validation of the pediatric Radboud Dysarthria Assessment.

PURPOSE: The Radboud Dysarthria Assessment (RDA) was published in 2014. Adaptation into a pediatric version (p-RDA) was required because of relevant differences between children and adults. The purpose of this study was to assess the feasibility of the p-RDA and to test intra-rater and inter-rater reliability as well as the validity of the two severity scales (function and activity level). METHODS: Video recordings were made of 35 participants with (suspected) dysarthria (age 4 to 17 years) while being assessed using the p-RDA. Intra-rater reliability was assessed by one, and inter-rater reliability by two experiments using the Intraclass Correlation Coefficient (ICC). Validity of the severity scales was tested by correlating the consensus scores with the independently rated scores on four communication scales, three mobility scales, and one self-care scale using Spearman correlation coefficients (rs). RESULTS: The assessment was applicable for 89% of the tested sample, with good intra-rater and inter-rater reliability (ICC = 0.88-0.98 and 0.83-0.93). The p-RDA severity scales (function and activity level) correlated from substantially to strongly with the communication scales (rs = 0.69-0.82 and 0.77-0.92) and self-care scale (rs = 0.76-0.71) and correlated substantially with the mobility scales (rs = 0.49-0.60). CONCLUSION: The feasibility, reliability and validity of the p-RDA are sufficient for clinical use.

Longitudinal Assessment of Strength, Functional Capacity, Oropharyngeal Function, and Quality of Life in Oculopharyngeal Muscular Dystrophy.

ObjectiveOculopharyngeal muscular dystrophy (OPMD) is a late-onset, progressive muscle disease. Disease progression is known to be slow, but details on the natural history remain unknown. We aimed to examine the natural history of OPMD in a large nationwide cohort to determine clinical outcome measures that capture disease progression and can be used in future clinical trials.MethodsPatients, invited by their treating physicians or from the national neuromuscular database, and invited family members, were examined twice, 20 months apart, using fixed dynamometry, MRC grading, maximum bite force and isometric tongue strength, Motor Function Measure (MFM), 10-step stair test, maximum swallowing-, chewing-, and speech-tasks and quality of life assessments.ResultsDisease progression was captured by 8 out of 18 measures over 20 months in forty-three genetically confirmed OPMD patients. The largest deterioration was seen in deltoid muscle strength (-27% (range -17 - -37%)), followed by the quadriceps (-14% (range -6 - -23%)), iliopsoas (-12.2%), tongue (-9.9%) and MRC sum-score (-2.5%). The 10-step stair test (-12.5%), MFM part D1 (-7.1%), and maximum repetition rate of /pa/ (-5.3%) showed a significant decrease as well (all p<0.05). Domain 'Physical functioning' of the SF-36 Health Survey significantly deteriorated (p=0.044). No relationship was found between disease progression and genotype or disease duration (p>0.05).ConclusionsDespite the slow disease progression of OPMD, this study showed that several outcome measures detected progression within 20 months. The deltoid muscle strength, measured by fixed dynamometry, showed the greatest decline. This longitudinal data provides clinical outcome measures that can be used as biomarkers in future clinical trials.

Development of the Experienced Communication in Dementia Questionnaire: A Qualitative Study.

Communication problems with their caregivers are common in people with dementia. Although interventions for improvement of communication are being developed, a tool to measure how participants experience their communication is lacking. The objective of this article is to describe the development of a questionnaire that measures the "experienced communication" of persons with dementia (ECD-P) as well as of their caregivers (ECD-C). Interviews were conducted with five person with dementia-caregiver dyads who had recently received a new communication intervention. Reflexive thematic analysis was performed on the transcripts using ATLAS.ti. Codes were created, categories and themes were identified, and items for the questionnaires were generated. Selection of items and response scales was done in collaboration with the same dyads. The final version was established after pilot testing with seven other dyads and discussion with five experts in the field of dementia care. Analysis of the transcripts resulted in 212 codes and 17 categories within four themes: caregiver competence, social communication, communication difficulties in daily life, and experienced emotions during conversations. The final version of the ECD-P consists of part 1 with 22 items and 4-point Likert scales, and part 2 with two items and 1 to 10 scales. In the final ECD-C (proxy version), part 1 and part 2 are similar to the ECD-P, while a part 3 was added to assess caregivers' own perspective and emotions (five items). Based on the experiences of people with dementia and their caregivers, we constructed a face-valid questionnaire. This justifies future research to test its clinimetric characteristics.

Healthcare needs, expectations, utilization, and experienced treatment effects in patients with hereditary spastic paraplegia: a web-based survey in the Netherlands.

BACKGROUND: We aimed to identify healthcare needs, expectations, utilization, and the experienced treatment effects in a population of Dutch patients with hereditary spastic paraplegia (HSP). METHODS: We distributed an online questionnaire among 194 adult persons with HSP in the Netherlands, of which 166 returned a fully completed version. After applying predefined exclusion criteria, 109 questionnaires from persons with pure HSP were analysed. RESULTS: Healthcare needs and expectations were primarily focused on the relief of muscle stiffness and reduction of balance and gait impairments (65-80%), but many participants also expressed needs regarding relief of non-motor symptoms (e.g. pain, fatigue), emotional problems, impaired sleep and self-care capacity, and participation problems (> 60%). Remarkably, despite these frequent needs, relatively few participants (< 33%) expected to be able to improve in these additional domains. Rehabilitation physicians and physiotherapists were more frequently consulted than neurologists and occupational therapists, respectively. Physiotherapy was the most often proposed non-pharmacological intervention (85%), followed by orthopedic footwear (55%) and splints (28%). Approximately one third of the participants was never offered any pharmacological (spasmolytic) treatment. Spasmolytic oral drugs, injections, and intrathecal baclofen were given to 41%, 26%, and 5% of the participants, respectively. Independent of the type of pharmacological intervention, 35-46% of these participants experienced decreased spastiticy and improved general fitness. Other experienced effects differed per type of intervention. CONCLUSIONS: Based on this web-based survey in the Netherlands, there seems to be ample room for improvement to meet and attune the healthcare needs and expectations of people with HSP concerning both their motor and non-motor symptoms and functional limitations. In addition, the provision of adequate information about non-pharmacological and pharmacological interventions seems to be insufficient for many patients to allow shared decision making. These conclusions warrant a more pro-active attitude of healthcare providers as well as an interdisciplinary approach for a substantial proportion of the HSP population, also involving professionals with a primary occupational and/or psychosocial orientation.

Maximum repetition rate in a large cross-sectional sample of typically developing Dutch-speaking children.

Purpose: The current study aims to provide normative data for the maximum repetition rate (MRR) development of Dutch-speaking children based on a large cross-sectional study using a standardised protocol.Method: A group of 1014 typically developing children aged 3;0 to 6;11 years performed the MRR task of the Computer Articulation Instrument (CAI). The number of syllables per second was calculated for mono-, bi-, and trisyllabic sequences (MRR-pa, MRR-ta, MRR-ka, MRR-pata, MRR-taka, MRR-pataka). A two-way mixed ANOVA was conducted to compare the effects of age and gender on MRR scores in different MRR sequences.Result: The data analysis showed that overall MRR scores were affected by age group, gender and MRR sequence. For all MRR sequences the MRR increased significantly with age. MRR-pa was the fastest sequence, followed by respectively MRR-ta, MRR-pata, MRR-taka, MRR-ka and MRR-pataka. Overall MRR scores were higher for boys than for girls, for all MRR sequences.Conclusion: This study presents normative data of MRR of Dutch-speaking children aged 3;0 to 6;11 years. These norms might be useful in clinical practice to differentiate children with speech sound disorders from typically developing children. More research on this topic is necessary. It is also suggested to collect normative data for other individual languages, using the same protocol.

Experienced consequences of spasticity and effects of botulinum toxin injections: a qualitative study amongst patients with disabling spasticity after stroke.

PURPOSE: Chronic spasticity poses a major burden on patients after stroke. Intramuscular botulinum toxin injections constitute an important part of the treatment for patients suffering from troublesome focal spasticity. This study explores the experienced consequences of chronic spasticity amongst patients after stroke regarding physical impairments and activities, the experienced effects of botulinum toxin treatment on these domains, and whether current spasticity management addresses patients' needs. MATERIALS AND METHODS: Fourteen participants with chronic spasticity after stroke who were treated with cyclical botulinum toxin injections in the upper and/or lower extremity muscles were interviewed. Inductive thematic analysis generated representative themes. RESULTS: Analyses of the interviews revealed three themes: (1) spasticity-related impairments and activity limitations; (2) fluctuations in spasticity related to botulinum toxin; (3) need for professional support and feedback. Besides motor impairments, participants experienced activity limitations in many domains of everyday life, with considerable day-to-day fluctuations. Moreover, treatment with botulinum toxin led to cyclical fluctuations in spasticity-related symptoms, which differed across participants. The participants called for shared responsibility for treatment, particularly regarding optimising the timing of injections. CONCLUSION: Incorporating patient-relevant outcomes into the current assessment of spasticity and monitoring these outcomes may improve spasticity management, particularly regarding the timing of botulinum toxin injections.Implications for rehabilitationBecause chronic spasticity after stroke impacts on almost all domains of everyday life, professionals should identify and target the most relevant problems in each individual patient.Monitoring patient-reported outcomes may help patients and professionals to get insight in the fluctuations of spasticity-related symptoms and may help to evaluate the effects of botulinum toxin injections from the patient's perspective.Patient education and providing insight in the fluctuations of spasticity-related symptoms may support self-management and shared decision-making in spasticity management.

Speech sound development in typically developing 2-7-year-old Dutch-speaking children: A normative cross-sectional study.

BACKGROUND: Dutch is a West-Germanic language spoken natively by around 24 million speakers. Although studies on typical Dutch speech sound development have been conducted, norms for phonetic and phonological characteristics of typical development in a large sample with a sufficient age range are lacking. AIM: To give a detailed description of the speech sound development of typically developing Dutch-speaking children from 2 to 7 years. METHODS & PROCEDURES: A total of 1503 typically developing children evenly distributed across the age range of 2;0-6;11 years participated in this normative cross-sectional study. The picture-naming task of the Computer Articulation Instrument (CAI) was used to collect speech samples. Speech development was described in terms of (1) percentage consonants correct-revised (PCC-R) and percentage vowels correct (PVC); (2) consonant, vowel and syllabic structure inventories; (3) degrees of complexity (phonemic feature hierarchy); and (4) phonological processes. OUTCOMES & RESULTS: A two-way mixed analysis of variance (ANOVA) confirmed a significant increase in the number of PCC-R and PVC between the ages of 2;0 and 6;11 years (p < 0.001). The consonant inventory was found to be complete at 3;7 years of age for the syllable-initial consonants, with the exception of the voiced fricatives /v/ and /z/, and the liquid /r/. All syllable-final consonants were acquired before age 4;4 years. At age 3;4 years, all children had acquired a complete vowel inventory, and at age 4;7 years they produced most syllable structures correctly, albeit that the syllable structure CCVCC was still developing. All phonological contrasts were produced correctly at 3;8 years of age. Children in the younger age groups used more phonological simplification processes than the older children, and by age 4;4 years, all had disappeared, except for the initial cluster reduction from three to two consonants and the final cluster reduction from two to one consonant. CONCLUSIONS & IMPLICATIONS: This paper describes a large normative cross-sectional study of Dutch speech sound development which, in clinical practice, can help Dutch speech-language pathologists to differentiate children with delayed or disordered speech development from typically developing children. What this paper adds What is already known on this subject In recent years many studies have been conducted worldwide to investigate speech sound development in different languages, including several that explored the typical speech sound development of Dutch-speaking children, but none of these latter studies explored both phonetic and phonological progress within a comprehensive age range and a large sample that is representative of the Dutch population. What this study adds to existing knowledge This study serves to fill this gap by providing normative cross-sectional results obtained in 1503 typically developing Dutch-speaking children aged between 2;0 and 6;11 years on informative parameters of speech development: PCC-R and PVC, consonant, vowel and syllabic structure inventories, degrees of complexity (phonemic feature hierarchy), and phonological simplification processes. What are the potential or actual clinical implications of this work? The detailed description of typical Dutch speech sound development provides speech-language pathologists with pertinent information to determine whether a child's speech development progresses typically or is delayed or disordered.

Swallowing, Chewing and Speaking: Frequently Impaired in Oculopharyngeal Muscular Dystrophy.

BACKGROUND: Oculopharyngeal muscular dystrophy (OPMD) is a late onset progressive neuromuscular disorder. Although dysphagia is a pivotal sign in OPMD it is still not completely understood. OBJECTIVE: The aim of this study was to systematically investigate oropharyngeal functioning in a large OPMD population. METHODS: Forty-eight genetically confirmed OPMD patients completed questionnaires, performed clinical tests on swallowing, chewing, speaking, tongue strength and bite force, and underwent videofluoroscopy of swallowing. Descriptive statistics was used for all outcomes and logistic regression to investigate predictors of abnormal swallowing. RESULTS: Eighty-two percent reported difficulties with swallowing, 27% with chewing and 67% with speaking. Patients performed significantly worse on all oropharyngeal tests compared to age-matched controls except for bite force. Also asymptomatic carriers performed worse than controls: on chewing time, swallowing speed and articulation rate. During videofluoroscopy, all patients (except one asymptomatic) had abnormal residue and 19% aspirated. Independent predictors of abnormal residue were reduced swallowing capacity for thin liquids (OR 10 mL = 0.93; 20 mL = 0.95) and reduced tongue strength for thick liquids (OR 10 mL = 0.95); 20 mL = 0.90). Aspiration of thin liquids was predicted by disease duration (OR = 1.11) and post-swallow residue with 20 mL (OR = 4.03). CONCLUSION: Next to pharyngeal dysphagia, chewing and speaking are also frequently affected in OPMD patients, even in asymptomatic carriers. Residue after swallowing is a very early sign, while aspiration is a later sign in OPMD. For clinical follow-up monitoring of subjective complaints, swallowing capacity and tongue strength seems relevant.

Clinical Reasoning for Speech Sound Disorders: Diagnosis and Intervention in Speech-Language Pathologists' Daily Practice.

Purpose This study aims to give an insight in clinical reasoning (diagnosis and intervention) of speech-language pathologists (SLPs) in the Netherlands for children with speech sound disorder (SSD). Method The study featured a mixed-method (qualitative and quantitative) design. Semistructured interviews containing nondirective, open-ended questions were conducted with 33 SLPs, which were analyzed using a constant comparative analysis. Other SLPs (137) filled out a questionnaire on the same topics. Multiple-choice questions were analyzed by descriptive frequencies, while open-ended questions were analyzed thematically. Results The results indicate that SLPs use a variety of assessments to diagnose SSD, complemented by observation and, often, case history. In total, 85 different diagnostic labels were reported. The choice of intervention is based on what is appealing to the child and what matches his or her age as well as on the specific diagnosis and severity. Interventions are used for multiple speech disorders, and according to SLPs, parents play a large role in diagnostics and intervention. Conclusion These results reveal the need for (a) a clear and consistent terminology of diagnoses in the field of pediatric SSD, (b) a fast and easy-to-administer comprehensive differential diagnostic instrument in combination with an instrument to assess participation in everyday life, and (c) a tool to conduct a case history online.

Individual longitudinal neurodevelopmental trajectories of children treated with hypothermia for perinatal asphyxia from 3 months to 5 years of age.

BACKGROUND: Hypothermia for perinatal asphyxia is a common treatment to decrease morbidity. This study aims to describe a) individual longitudinal neurodevelopmental trajectories over 5 years in children with perinatal asphyxia treated with hypothermia and b) the correlation between movement quality at 3 months and motor developmental outcomes at 5 years of age. METHODS: In this longitudinal cohort study, 18 children (12 male) were assessed at 3 (t1), 6 (t2), 12 (t3), and 24 (t4) months, and at the age of 5 (t5) years, with standardized norm-referenced tests. RESULTS: Six children showed abnormal movement quality assessed with General Movements (t1) and all showed severe neurodevelopmental disabilities at t5. The 12 children without severe disabilities, showed a significant normalization of z-scores over the five assessment points (linear mixed model analysis). At t5, four of these children scored mildly delayed motor or cognitive development. CONCLUSION AND IMPLICATIONS: Children without anomalies on the MRI before hospital discharge and normal movement quality at 3 months of age showed normal neurodevelopment at the age of 5, however, individual motor trajectories showed variability over time. Presents of abnormal GMs tend to detect CP and developmental problems, advocating a developmental surveillance to determine need for early intervention.

Dysphagia and Dysarthria in Children with Neuromuscular Diseases, a Prevalence Study.

BACKGROUND: Dysphagia and dysarthria are frequently described in pediatric neuromuscular diseases (pNMD). The consequences can be substantial: failure to thrive, malnutrition, aspiration pneumonia, or communication problems. Early detection and identification of risk factors and etiology support preventing complications and morbidity, including impact on quality of life. Information about the prevalence of dysphagia and dysarthria in pNMD is scarce. OBJECTIVE: To describe the pooled prevalence of dysphagia and dysarthria in pNMD in the Netherlands. In addition, we describe the prevalence of dysphagia and dysarthria each, and the prevalence of chewing (oral) and swallowing problems per diagnostic group, based on their anatomic origin. METHODS: Data were collected from 295 children (mean age 11;0 years, range 2;6-18;0) with pNMD in 12 hospitals and rehabilitation centers in the Netherlands. A speech language therapist established whether dysphagia and dysarthria were present or not. RESULTS: In almost all the 14 diagnostic groups of pNMD, dysphagia and dysarthria were present. Pooled overall prevalence of dysphagia and dysarthria was 47.2% and 31.5%, respectively. Of 114 children with dysphagia, 90.0% had chewing problems, 43.0% showed swallowing problems and 33.3% showed both chewing and swallowing problems. CONCLUSIONS: The overall pooled prevalence of dysphagia and dysarthria was high in the population of pNMD. It can be argued that periodic monitoring of dysphagia and dysarthria and early referral to a speech language therapist should be a necessity from the start of the diagnosis in the whole pNMD population.

Reliability and Responsiveness of the Observable Movement Quality Scale for Children with Mild to Moderate Motor Impairments.

AIM: The Observable Movement Quality (OMQ) scale measures generic movement quality and is used alongside standardized age-adequate motor performance tests. The scale consists of 15 items, each focusing on a different aspect; together, the entire construct of movement quality is assessed. This study aimed to determine interrater and intrarater reliability, and responsiveness of the OMQ scale. METHODS: A prospective intervention study with pre-post design in pediatric physical therapy practices. For interrater reliability, 3 physical therapists observed video-recorded motor assessments of 30 children with mild to moderate motor impairments -aged 4 to 12 years-using the OMQ scale. One therapist scored baseline assessment a second time for intrarater reliability, and to calculate smallest detectable change (SDC). Responsiveness (n = 28) was tested by comparing outcomes before and after intervention. RESULTS: Interrater reliability was moderate to good (ICC2,1: 0.79); intrarater reliability was high (ICC2,1: 0.97). Responsiveness results revealed an SDC of 2.4 and a minimal important change of 2.5; indicating sufficient validity in differentiating groups of children showing improved versus unchanged movement quality. CONCLUSION: The OMQ scale is reliable and responsive to change when used to assess movement quality in clinical practice for children with mild to moderate motor impairments, aged 4-12 year.