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BMJ Open Jan 2024Speech and language therapists (SLTs) worldwide report challenges with providing recommended, evidence-based intervention intensity for children with speech sound...
What works, how and in which contexts when supporting parents to implement intensive speech and language therapy at home for children with speech sound disorder? A protocol for a realist review.
INTRODUCTION
Speech and language therapists (SLTs) worldwide report challenges with providing recommended, evidence-based intervention intensity for children with speech sound disorder (SSD). Challenges such as service constraints and/or family contexts impact on access to optimal therapy intensity. Existing research indicates that empowering and training parents to deliver intervention at home, alongside SLT support, offers one possible solution to increasing the intensity of intervention children with SSD receive. Digital health could increase accessibility to intensive home practice and help sustain engagement with therapy activities. Further exploration is needed around what makes parent-implemented interventions for children with SSD effective, for who and in which situations. This paper outlines the protocol for a realist review which aims to explore the active ingredients and contextual factors of effective digital parent-led interventions.
METHODS AND ANALYSIS
A realist review will explore the research question, following six stages. The scope of the review will be determined, and initial programme theories will be developed about what works in digital parent-implemented interventions for SSD, for whom, how, why and in what circumstances. Relevant secondary data, identified through a formal search strategy, will be selected, appraised, analysed and synthesised using realist principles to test and further refine the initial programme theories. This process will develop refined underpinning explanatory theories which capture the interaction between contexts, mechanisms and outcomes of the intervention. An expert steering group will provide insight to inform explanatory theories, searches, and dissemination.
ETHICS AND DISSEMINATION
Ethical approval is not required for this review. The refined programme theories from the review will inform the next stages of a wider study. A subsequent realist evaluation will test and further refine theories with key stakeholders. Following this, the underpinning programme theory will be used to coproduce a digital tool, to support parents to deliver home intervention alongside SLT support.
Topics: Child; Humans; Speech Sound Disorder; Language Therapy; Speech; Speech Therapy; Apraxias; Language Development Disorders; Stuttering; Parents; Review Literature as Topic
PubMed: 38184311
DOI: 10.1136/bmjopen-2023-074272 -
Research in Developmental Disabilities Feb 2024Developmental Coordination Disorder (DCD) is among the most under-recognized and under-supported disorders worldwide.
BACKGROUND
Developmental Coordination Disorder (DCD) is among the most under-recognized and under-supported disorders worldwide.
AIMS
To present a preliminary national study that evaluated the unmet needs of children with DCD in the USA using the Impact for DCD survey.
METHODS AND PROCEDURES
232 parents of individuals aged 5-18 years provided responses from 36 items in five domains (diagnosis, activity/participation, education, therapy, and social/emotional health).
OUTCOMES AND RESULTS
Most children (81.9%) had a formal diagnosis for movement difficulties, and 91.6% of parents reported that receiving a diagnosis was helpful, but most had not heard of the diagnosis before. The most common co-occurring diagnoses were childhood apraxia of speech and other speech-language disorders (24.6%), ADHD (23.1%), and anxiety (18.8%). Most parents reported that their children withdrew from or avoided movement-related activities (53%), and nearly all (94.8%) were concerned about the impact of motor difficulties on their children's social and emotional health. Only 37% of parents reported feeling that their child received sufficient therapy.
CONCLUSIONS AND IMPLICATIONS
Generally, parents reported feeling frustrated with others' understanding and awareness of the condition and with therapy services. The results shown here provide timely data that can support efforts for increased awareness, improved diagnosis, and increased availability of services for DCD in the USA.
Topics: Child; Humans; United States; Motor Skills Disorders; Apraxias; Educational Status; Movement; Surveys and Questionnaires
PubMed: 38176290
DOI: 10.1016/j.ridd.2023.104658 -
Frontiers in Aging Neuroscience 2023Ataxia with oculomotor apraxia type 1 (AOA1) is a progressive neurodegenerative disorder characterized by a gradual loss of coordination of hand movements, speech, and...
Ataxia with oculomotor apraxia type 1 (AOA1) is a progressive neurodegenerative disorder characterized by a gradual loss of coordination of hand movements, speech, and eye movements. AOA1 is caused by an inactivation mutation in the gene. APTX resolves abortive DNA ligation intermediates. APTX deficiency may lead to the accumulation of 5'-AMP termini, especially in the mitochondrial genome. The consequences of APTX deficiency includes impaired mitochondrial function, increased DNA single-strand breaks, elevated reactive oxygen species production, and altered mitochondrial morphology. All of these processes can cause misplacement of nuclear and mitochondrial DNA, which can activate innate immune sensors to elicit an inflammatory response. This study explores the impact of APTX knockout in microglial cells, the immune cells of the brain. RNA-seq analysis revealed significant differences in the transcriptomes of wild-type and APTX knockout cells, especially in response to viral infections and innate immune pathways. Specifically, genes and proteins involved in the cGAS-STING and RIG-I/MAVS pathways were downregulated in APTX knockout cells, which suggests an impaired immune response to cytosolic DNA and RNA. The clinical relevance of these findings was supported by analyzing publicly available RNA-seq data from AOA1 patient cell lines. Comparisons between APTX-deficient patient cells and healthy control cells also revealed altered immune responses and dysregulated DNA- and RNA-sensing pathways in the patient cells. Overall, this study highlights the critical role of APTX in regulating innate immunity, particularly in DNA- and RNA-sensing pathways. Our findings contribute to a better understanding of the underlying molecular mechanisms of AOA1 pathology and highlights potential therapeutic targets for this disease.
PubMed: 38161589
DOI: 10.3389/fnagi.2023.1290681 -
Brain Sciences Dec 2023(1) Background: Dementia and mild cognitive impairment (MCI) are still underdiagnosed in the general population. Impaired odor identification has been identified as an...
"Try to Build This Bunny as Fast as Possible without Using Red or Pink Bricks": How Simple Assembly Tasks Might Aid in Detecting People with Mild Cognitive Impairment and Dementia.
(1) Background: Dementia and mild cognitive impairment (MCI) are still underdiagnosed in the general population. Impaired odor identification has been identified as an early marker of MCI and dementia. We aim to investigate whether short tasks, in which simple forms must be assembled from single building blocks based on a template or while considering specific re-strictions, could increase the diagnostic quality of established cognitive screening tests in detecting MCI or dementia. (2) Methods: A brief assembly test, where participants had to assemble simple animal shapes from Lego Duplo building blocks, the Frontal Assessment Battery, and the Mini-Mental State Exam (MMSE) were administered to a consecutive series of 197 patients (89 with mild dementia, 62 with mild cognitive impairment, and 46 without cognitive impairment) referred for neuropsychological testing. (3) Results: Both participants with dementia and with MCI performed badly in the assembly tasks. The assembly tasks and the Frontal Assessment Battery were substantially correlated. Complementing MMSE scores with the assembly tasks improved the diagnostic accuracy of individuals with dementia and MCI. (4) Conclusions: People with suspected dementia or MCI may already benefit from simple assembly tasks. Although these tests require little additional time, they can notably increase sensitivity for dementia or MCI.
PubMed: 38137141
DOI: 10.3390/brainsci13121693 -
BMC Geriatrics Dec 2023Corticobasal syndrome (CBS) is a neurodegenerative disease diagnosed based on clinical manifestations such as asymmetrical parkinsonism, limb apraxia, and speech and...
BACKGROUND
Corticobasal syndrome (CBS) is a neurodegenerative disease diagnosed based on clinical manifestations such as asymmetrical parkinsonism, limb apraxia, and speech and language impairment. The background pathology of CBS is commonly a variety of proteinopathies, but association with cerebrovascular disease has also been reported. Foix-Chavany-Marie syndrome (FCMS) is a rare neurological disorder characterized by facio-pharyngo-glossal diplegia with automatic-voluntary movement dissociation presenting with bilateral paresis of the facial, lingual, pharyngeal and masticatory muscles. FCMS is commonly attributable to stroke. Transactive response DNA binding protein of 43 kD (TDP-43) proteinopathy is also known as the pathological background of FCMS, while the pathological background of the majority of CBS cases consists of diverse tauopathies instead of TDP-43 proteinopathy. In this report, we describe a case mimicking FCMS that was finally diagnosed as CBS with suggested 4-repeat tauopathy.
CASE PRESENTATION
A 68-year-old female started experiencing difficulty speaking followed by difficulty writing, and especially texting, several years before her visit. Her impairment had been gradually worsening, and she came to our hospital. On neurological examination, she demonstrated the facial apraxia, frontal lobe dysfunction, and upper motor neuron signs. She presented some characteristics suggestive of FCMS. Her symptoms exhibited rapid progression and myoclonus, parkinsonism, and left-side dominant cortical sensory deficit occurred, resulting in the fulfillment of diagnostic criteria for CBS after 9 months. Tau PET imaging displayed notable ligand uptake in the brainstem, subthalamic nuclei, basal ganglia, and bilateral subcortical frontal lobe, suggesting that her pathological background was 4-repeat tauopathy. As a result of her progressive dysphagia, she became unable to eat and passed away after 12 months.
CONCLUSION
We hereby present an atypical case of CBS showing clinical features mimicking FCMS at first presentation. TDP-43 proteinopathy was suspected based on the clinical symptoms in the early stages of the disease; however, the clinical course and imaging findings including tau PET suggested that her pathological background was 4-repeat tauopathy.
Topics: Female; Humans; Aged; Deglutition Disorders; Corticobasal Degeneration; Neurodegenerative Diseases; Syndrome; Apraxias; Parkinsonian Disorders; TDP-43 Proteinopathies
PubMed: 38087192
DOI: 10.1186/s12877-023-04564-z -
Revista Brasileira de Ortopedia Dec 2023To describe and evaluate the accuracy of the pericapsular nerve group (PENG) block technique with no ultrasound guidance. Series of 40 infiltrations in patients...
To describe and evaluate the accuracy of the pericapsular nerve group (PENG) block technique with no ultrasound guidance. Series of 40 infiltrations in patients with hip pain undergoing outpatient follow-up in the hip surgery group or admitted to the emergency room from a hospital in São Paulo, SP, Brazil. The hip PENG technique was guided by palpable anatomical pelvic structures, with no ultrasound orientation for needle positioning, using the equipment only to check the correct location after an unguided puncture. In the 40 hips infiltrated from 35 patients with a mean age of 59.2 years, the success rate was 85%. Among the mispositioned cases, 71.4% occurred in the first 13 applications and 28.6% in the subsequent 27 applications. In all patients, the neurovascular bundle was in the medial third of the pen-made demarcation. Even in cases with a failed needle location, the distance from the neurovascular bundle was safe. A single adverse effect occurred, with spontaneous improvement of the femoral nerve apraxia within two days. Unguided PENG block is a viable technique for a physician knowledgeable about its application in services with no ultrasound availability.
PubMed: 38077758
DOI: 10.1055/s-0043-1776909 -
Cold Spring Harbor Molecular Case... Dec 2023Rare genetic conditions are challenging for the primary care provider to manage without proper guidelines. This clinical review is designed to assist the pediatrician,...
Rare genetic conditions are challenging for the primary care provider to manage without proper guidelines. This clinical review is designed to assist the pediatrician, family physician, or internist in the primary care setting to manage the complexities of 16p11.2 deletion syndrome. A multidisciplinary medical home with the primary care provider leading the care and armed with up-to-date guidelines will prove most helpful to the rare genetic patient population. A special focus on technology to fill gaps in deficits, review of case studies on novel medical treatments, and involvement with the educational system for advocacy with an emphasis on celebrating diversity will serve the rare genetic syndrome population well.
Topics: Child; Humans; Adolescent; Chromosome Deletion; Chromosome Disorders; Autistic Disorder; Intellectual Disability; Chromosomes, Human, Pair 16
PubMed: 38050025
DOI: 10.1101/mcs.a006316 -
Surgical Case Reports Dec 2023Mitral-aortic intervalvular fibrosa (MAIVF) is a fibrous region connecting the anterior mitral leaflet (AML) and aortic valve. Pseudoaneurysm of the MAIVF is a rare...
BACKGROUND
Mitral-aortic intervalvular fibrosa (MAIVF) is a fibrous region connecting the anterior mitral leaflet (AML) and aortic valve. Pseudoaneurysm of the MAIVF is a rare condition that has been reported as a sequela of infective endocarditis (IE) and surgical trauma. Here, we report a case of a ruptured pseudoaneurysm of the MAIVF, along with some literature reviews.
CASE PRESENTATION
A 65-year-old man diagnosed with moderate aortic regurgitation five years previously had a fever of unknown origin. He suddenly developed headache and apraxia and was transported to our hospital. He was diagnosed with intracranial hemorrhage and admitted. One week after admission, echocardiography revealed aorto-mitral discontinuity and protrusion with severe regurgitant flow from left ventricular outflow tract to the left atrium. The AML was suspected to have ruptured. However, intraoperatively, the AML structure was preserved. A ruptured pseudoaneurysm of the MAIVF was also observed. Therefore, we successfully performed pseudoaneurysm repair using a bovine pericardial patch, aortic valve replacement, and mitral annuloplasty.
CONCLUSIONS
P-MAIVF is a rare but potentially life-threatening complication of IE, for which timely diagnosis and prompt appropriate therapeutic intervention are required. In the present case, although neither obvious active IE nor history of previous IE could be identified, healed IE was considered based on the clinical course. The patient had intracranial hemorrhage (ICH) with well-controlled heart failure and underwent elective surgical repair more than one month after the onset of ICH, while the clinical course after the surgical procedure was uneventful.
PubMed: 38044395
DOI: 10.1186/s40792-023-01789-3 -
Cureus Oct 2023Prion diseases are rare neurodegenerative diseases that have a rapid evolution. Creutzfeldt-Jakob disease (CJD) is the most common and its sporadic form the most...
Prion diseases are rare neurodegenerative diseases that have a rapid evolution. Creutzfeldt-Jakob disease (CJD) is the most common and its sporadic form the most frequent. Definitive diagnosis is only obtained through autopsy, and there are currently no available treatments. Here, we present a case of an 84-year-old woman presenting with resting tremor, abnormal gait, frequent falls, apraxia, visual hallucinations, and delirium. There were no signs of relevant metabolic, infectious, or nutritional alterations, and brain computed tomography (CT) scan and magnetic resonance imaging (MRI) had no significant findings. Two months later, the patient was completely immobile with mutism, seizures, and myoclonus. In the presence of a rapidly progressive dementia associated with myoclonus, it was hypothesized that the patient had CJD. The patient's clinical state deteriorated, she died, and autopsy confirmed sporadic CJD. The purpose of this case is to highlight a rare disease that can go undiagnosed because of low awareness and clinical suspicion and the importance of the differential diagnosis of dementia, a common disease at this age.
PubMed: 38021531
DOI: 10.7759/cureus.47177 -
Frontiers in Neurology 2023Primary blepharospasm (BSP) is a clinically heterogeneous disease that manifests not only as spasmodic closure of the eyelids but also sometimes with apraxia of eyelid...
OBJECTIVE
Primary blepharospasm (BSP) is a clinically heterogeneous disease that manifests not only as spasmodic closure of the eyelids but also sometimes with apraxia of eyelid opening (AEO). This cross-sectional study aimed to investigate differences in the neural mechanisms of isolated BSP and BSP-associated AEO subtypes, which may reveal the pathophysiology underlying different phenotypes.
METHODS
A total of 29 patients manifested as isolated BSP, 17 patients manifested as BSP associated with AEO, and 28 healthy controls underwent resting-state functional near-infrared spectroscopy (fNIRS). We assessed functional connectivity (FC) between regions of interest (ROIs) in the fronto-parietal control network (PFCN) and sensorimotor network (SMN). We also examined the relationship between altered FC and behavioral data.
RESULTS
In the FPCN, ROI- analyses showed decreased FC between the left premotor cortex and supramarginal gyrus in the BSP with AEO group compared to the isolated BSP group. In the SMN, both subgroups showed hypoconnectivity of the left premotor cortex with the right primary motor cortex, primary sensory cortex, and somatosensory association cortex. This hypoconnectivity was positively correlated with the total number of botulinum toxin A treatments, which suggests that long-term botulinum toxin A treatment may modulate motor sequence planning and coordination.
CONCLUSION
These findings showed different connectivity alterations in neural networks associated with motor and cognitive control among different behavioral phenotypes of BSP. The identification of specific alterations in various networks that correspond to clinical heterogeneity may inform the identification of potential biomarkers for early diagnosis and personalized neuromodulation targets for treating different BSP subphenotypes.
PubMed: 38020657
DOI: 10.3389/fneur.2023.1273935