-
PloS One 2021To date services for children with Developmental Coordination Disorder (DCD) have not been informed by the perspective of children with DCD. This study aimed to... (Meta-Analysis)
Meta-Analysis
BACKGROUND
To date services for children with Developmental Coordination Disorder (DCD) have not been informed by the perspective of children with DCD. This study aimed to synthesise the findings of discrete qualitative studies reporting the lived experiences views and preferences of children and young with DCD using a meta-ethnographic approach to develop new conceptual understandings.
METHODS
A systematic search of ten databases; Academic Search Complete, AMED, CINAHL, ERIC, MEDLINE, PsychArticles, PsychInfo, EMBASE, SPORTDiscus, and Web of Science, was conducted between March and April 2019, and updated in early June 2020. Meta-ethnography, following the method described by Noblit and Hare was used to synthesise included studies. The Joanna Briggs Institute Checklist was used to appraise all included papers. PROSPERO registration number CRD42019129178.
RESULTS
Fifteen studies met the inclusion criteria. Meta-ethnographic synthesis produced three themes; a) 'It's harder than it should be': Navigating daily activities b) Fitting in, and c) 'So what? I drop things': Strategies and supports to mitigate challenges. Children with DCD describe a mismatch between their abilities and performance norms for daily activities that led to a cascade of negative consequences including negative self-appraisal, bullying and exclusion. In the face of these difficulties children described creative and successful strategies they enacted and supports they accessed including; assistance from others (parents, friends and teachers), focusing on their strengths and talents, accepting and embracing their difference, adopting a "just do it" attitude, setting personal goals, self-exclusion from some social activities, using humour or sarcasm, viewing performance expectations as a social construct, and enjoying friendships as a forum for fun, acceptance and protection against exclusion.
CONCLUSION
Service provision for children and young people with DCD should address the social and attitudinal environments, focus on friendship and social inclusion and address stigma-based bullying particularly within the school environment. Furthermore, practitioners should identify and foster children's own strategies for navigating daily life activities with DCD. The identified themes resonate with contemporary disability theory and the International Classification of Functioning. The social and attitudinal environmental context of children and young people with DCD profoundly influences their experiences. Future intervention development and service provision for children and young people with DCD should consider opportunities to address social and attitudinal environmental factors.
Topics: Adolescent; Apraxias; Child; Humans; Motor Skills Disorders
PubMed: 33661934
DOI: 10.1371/journal.pone.0245738 -
BMJ Open Oct 2017To review and synthesise qualitative literature relating to the longer-term needs of community dwelling stroke survivors with communication difficulties including... (Review)
Review
OBJECTIVE
To review and synthesise qualitative literature relating to the longer-term needs of community dwelling stroke survivors with communication difficulties including aphasia, dysarthria and apraxia of speech.
DESIGN
Systematic review and thematic synthesis.
METHOD
We included studies employing qualitative methodology which focused on the perceived or expressed needs, views or experiences of stroke survivors with communication difficulties in relation to the day-to-day management of their condition following hospital discharge. We searched MEDLINE, EMBASE, PsycINFO, CINAHL, The Cochrane Library, International Bibliography of the Social Sciences and AMED and undertook grey literature searches. Studies were assessed for methodological quality by two researchers independently and the findings were combined using thematic synthesis.
RESULTS
Thirty-two studies were included in the thematic synthesis. The synthesis reveals the ongoing difficulties stroke survivors can experience in coming to terms with the loss of communication and in adapting to life with a communication difficulty. While some were able to adjust, others struggled to maintain their social networks and to participate in activities which were meaningful to them. The challenges experienced by stroke survivors with communication difficulties persisted for many years poststroke. Four themes relating to longer-term need were developed: managing communication outside of the home, creating a meaningful role, creating or maintaining a support network and taking control and actively moving forward with life.
CONCLUSIONS
Understanding the experiences of stroke survivors with communication difficulties is vital for ensuring that longer-term care is designed according to their needs. Wider psychosocial factors must be considered in the rehabilitation of people with poststroke communication difficulties. Self-management interventions may be appropriate to help this subgroup of stroke survivors manage their condition in the longer-term; however, such approaches must be designed to help survivors to manage the unique psychosocial consequences of poststroke communication difficulties.
Topics: Adaptation, Psychological; Aphasia; Apraxias; Communication; Communication Disorders; Dysarthria; Health Services Needs and Demand; Humans; Independent Living; Long-Term Care; Psychology; Social Support; Stroke; Stroke Rehabilitation; Survivors
PubMed: 28988185
DOI: 10.1136/bmjopen-2017-017944 -
International Journal of... Aug 2023Music-based interventions are used in the treatment of childhood speech sound disorders (SSDs). Hypotheses on working mechanisms are being developed, focussing on shared... (Review)
Review
PURPOSE
Music-based interventions are used in the treatment of childhood speech sound disorders (SSDs). Hypotheses on working mechanisms are being developed, focussing on shared neural processes. However, evidence of the effect of treatment with musical elements in SSDs in children is lacking. This study reviews the literature regarding the use of music-based interventions in the treatment of childhood SSDs.
METHOD
A systematic search in six databases was conducted, yielding 199 articles, eight of which met the inclusion criteria. Included articles were reviewed on study characteristics, patient characteristics, interventions, outcomes and methodological quality.
RESULT
This review included four case studies, three single-subject design studies and one cohort study. Seven studies reported positive outcomes on speech production, but outcome measures in the four studies with experimental design were not all aimed at the level of speech (motor) processes. Methodological quality was sufficient in one study.
CONCLUSION
Seven out of eight studies in this review report positive outcomes of music-based interventions in the treatment of SSDs. However, these outcomes are not sufficiently supported by evidence due to insufficient methodological quality. Suggestions for improving methodological quality in future research are presented.
Topics: Child; Humans; Music; Speech Sound Disorder; Cohort Studies; Speech Therapy
PubMed: 35900281
DOI: 10.1080/17549507.2022.2097310 -
Journal of the Formosan Medical... Feb 2016There are great diversities of clinical phenotypes among the various familial Alzheimer's disease (FAD) families. We aimed to systematically review all the previously... (Review)
Review
There are great diversities of clinical phenotypes among the various familial Alzheimer's disease (FAD) families. We aimed to systematically review all the previously reported cases of FAD and to perform comparisons between Asian and white patients. In this regard, we collected individual-level data from 658 pedigrees. We found that patients with presenilin 1 (PSEN1) mutations had the earliest age of onset (AOO; 43.3 ± 8.6 years, p < 0.001) and were more commonly affected by seizures, spastic paraparesis, myoclonus, and cerebellar signs (p < 0.001, p < 0.001, p = 0.003, and p = 0.002, respectively). Patients with PSEN2 mutations have a delayed AOO with longest disease duration and presented more frequently with disorientation (p = 0.03). Patients with amyloid precursor protein (APP) mutations presented more frequently with aggression (p = 0.02) and those with APP duplication presented more frequently with apraxia (p = 0.03). PSEN1 mutations before codon 200 had an earlier AOO than those having mutations after codon 200 (41.4 ± 8.0 years vs. 44.7 ± 8.7 years, p < 0.001). Because 42.9% of the mutations reported are novel, the mutation spectrum and clinical features in Asian FAD families could be different from that of whites. Asian patients with PSEN1 mutations presented more frequently with disorientation (p = 0.02) and personality change (p = 0.01) but less frequently with atypical clinical features. Asian patients with APP mutations presented less frequently with aphasia (p = 0.02). Thus, clinical features could be modified by underlying mutations, and Asian FAD patients may have different clinical features when compared with whites.
Topics: Alzheimer Disease; Amyloid beta-Protein Precursor; Asian People; Humans; Mutation; Pedigree; Presenilin-1; Presenilin-2; Taiwan
PubMed: 26337232
DOI: 10.1016/j.jfma.2015.08.004 -
Neuropsychology Review Dec 2021Drawing is a multi-component process requiring a wide range of cognitive abilities. Several studies on patients with focal brain lesions and functional neuroimaging... (Meta-Analysis)
Meta-Analysis Review
Drawing is a multi-component process requiring a wide range of cognitive abilities. Several studies on patients with focal brain lesions and functional neuroimaging studies on healthy individuals demonstrated that drawing is associated with a wide brain network. However, the neural structures specifically related to drawing remain to be better comprehended. We conducted a systematic review complemented by a meta-analytic approach to identify the core neural underpinnings related to drawing in healthy individuals. In analysing the selected studies, we took into account the type of the control task employed (i.e. motor or non-motor) and the type of drawn stimulus (i.e. geometric, figurative, or nonsense). The results showed that a fronto-parietal network, particularly on the left side of the brain, was involved in drawing when compared with other motor activities. Drawing figurative images additionally activated the inferior frontal gyrus and the inferior temporal cortex, brain areas involved in selection of semantic features of objects and in visual semantic processing. Moreover, copying more than drawing from memory was associated with the activation of extrastriate cortex (BA 18, 19). The activation likelihood estimation coordinate-based meta-analysis revealed a core neural network specifically associated with drawing which included the premotor area (BA 6) and the inferior parietal lobe (BA 40) bilaterally, and the left precuneus (BA 7).These results showed that a fronto-parietal network is specifically involved in drawing and suggested that a crucial role is played by the (left) inferior parietal lobe, consistent with classical literature on constructional apraxia.
Topics: Brain; Brain Mapping; Frontal Lobe; Humans; Magnetic Resonance Imaging; Parietal Lobe; Temporal Lobe
PubMed: 33728526
DOI: 10.1007/s11065-021-09494-4 -
Neuropsychology Review Mar 2024Researchers and clinicians have long used meaningful intransitive (i.e., not tool-related; MFI) gestures to assess apraxia-a complex and frequent motor-cognitive... (Review)
Review
Researchers and clinicians have long used meaningful intransitive (i.e., not tool-related; MFI) gestures to assess apraxia-a complex and frequent motor-cognitive disorder. Nevertheless, the neurocognitive bases of these gestures remain incompletely understood. Models of apraxia have assumed that meaningful intransitive gestures depend on either long-term memory (i.e., semantic memory and action lexicons) stored in the left hemisphere, or social cognition and the right hemisphere. This meta-analysis of 42 studies reports the performance of 2659 patients with either left or right hemisphere damage in tests of meaningful intransitive gestures, as compared to other gestures (i.e., MFT or meaningful transitive and MLI or meaningless intransitive) and cognitive tests. The key findings are as follows: (1) deficits of meaningful intransitive gestures are more frequent and severe after left than right hemisphere lesions, but they have been reported in both groups; (2) we found a transitivity effect in patients with lesions of the left hemisphere (i.e., meaningful transitive gestures more difficult than meaningful intransitive gestures) but a "reverse" transitivity effect in patients with lesions of the right hemisphere (i.e., meaningful transitive gestures easier than meaningful intransitive gestures); (3) there is a strong association between meaningful intransitive and transitive (but not meaningless) gestures; (4) isolated deficits of meaningful intransitive gestures are more frequent in cases with right than left hemisphere lesions; (5) these deficits may occur in the absence of language and semantic memory impairments; (6) meaningful intransitive gesture performance seems to vary according to the emotional content of gestures (i.e., body-centered gestures and emotional valence-intensity). These findings are partially consistent with the social cognition hypothesis. Methodological recommendations are given for future studies.
PubMed: 38448754
DOI: 10.1007/s11065-024-09634-6 -
Children (Basel, Switzerland) Apr 2024CACNA1C gene encodes the alpha 1 subunit of the CaV1.2 L-type Ca2+ channel. Pathogenic variants in this gene have been associated with cardiac rhythm disorders such as... (Review)
Review
CACNA1C gene encodes the alpha 1 subunit of the CaV1.2 L-type Ca2+ channel. Pathogenic variants in this gene have been associated with cardiac rhythm disorders such as long QT syndrome, Brugada syndrome and Timothy syndrome. Recent evidence has suggested the possible association between CACNA1C mutations and neurologically-isolated (in absence of cardiac involvement) phenotypes in children, giving birth to a wider spectrum of CACNA1C-related clinical presentations. However, to date, little is known about the variety of both neurological and non-neurological signs/symptoms in the neurologically-predominant phenotypes. We conducted a systematic review of neurologically-predominant presentations without cardiac conduction defects, associated with CACNA1C mutations. We also reported a novel de novo missense pathogenic variant in the CACNA1C gene of a children patient presenting with constructional, dressing and oro-buccal apraxia associated with behavioral abnormalities, mild intellectual disability, dental anomalies, gingival hyperplasia and mild musculoskeletal defects, without cardiac conduction defects. The present study highlights the importance of considering the investigation of the CACNA1C gene in children's neurological isolated syndromes, and expands the phenotype of the CACNA1C related conditions. In addition, the present study highlights that, even in absence of cardiac conduction defects, nuanced clinical manifestations of the Timothy syndrome (e.g., dental and gingival defects) could be found. These findings suggest the high variable expressivity of the CACNA1C gene and remark that the absence of cardiac involvement should not mislead the diagnosis of a CACNA1C related disorder.
PubMed: 38790536
DOI: 10.3390/children11050541 -
American Journal of Speech-language... May 2015This is a systematic review of assessment and treatment of cognitive and communicative abilities of individuals with acquired brain injury via telepractice versus in...
PURPOSE
This is a systematic review of assessment and treatment of cognitive and communicative abilities of individuals with acquired brain injury via telepractice versus in person. The a priori clinical questions were informed by previous research that highlights the importance of considering any functional implications of outcomes, determining disorder- and setting-specific concerns, and measuring the potential impact of diagnostic accuracy and treatment efficacy data on interpretation of findings.
METHOD
A literature search of multiple databases (e.g., PubMed) was conducted using key words and study inclusion criteria associated with the clinical questions.
RESULTS
Ten group studies were accepted that addressed assessment of motor speech, language, and cognitive impairments; assessment of motor speech and language activity limitations/participation restrictions; and treatment of cognitive impairments and activity limitations/participation restrictions. In most cases, equivalence of outcomes was noted across service delivery methods.
CONCLUSIONS
Limited findings, lack of diagnostic accuracy and treatment efficacy data, and heterogeneity of assessments and interventions precluded robust evaluation of clinical implications for telepractice equivalence and the broader area of telepractice efficacy. Future research is needed that will build upon current knowledge through replication. In addition, further evaluation at the impairment and activity limitation/participation restriction levels is needed.
Topics: Adult; Apraxias; Brain Injury, Chronic; Cognition Disorders; Communication; Humans; Language Disorders; Patient Acceptance of Health Care; Patient Satisfaction; Practice, Psychological; Research; Telerehabilitation; Treatment Outcome
PubMed: 25836020
DOI: 10.1044/2015_AJSLP-14-0028 -
American Journal of Speech-language... Jan 2021Purpose The aim of this study was to determine the discriminative features that might contribute to differentiation of childhood apraxia of speech (CAS) from other...
Purpose The aim of this study was to determine the discriminative features that might contribute to differentiation of childhood apraxia of speech (CAS) from other speech sound disorders (SSDs). Method A comprehensive literature search was conducted for articles or doctoral dissertations that included ≥ 1 child with CAS and ≥ 1 child with SSD. Of 2,071 publications screened, 53 met the criteria. Articles were assessed for (a) study design and risk of bias; (b) participant characteristics and confidence in diagnosis; and (c) discriminative perceptual, acoustic, or kinematic measures. A criterion was used to identify promising studies: American Academy of Neurology study design (Class III+), replicable participant descriptions and adequate confidence in diagnosis (≥ 3), and ≥ 1 discriminative and reliable measure. Results Over 75% of studies were retrospective, case-control designs and/or assessed English-speaking children. Many studies did not fully describe study design and quality. No studies met the Class I (highest) quality rating according to American Academy of Neurology guidelines. CAS was mostly compared to speech delay/phonological disorder. Only six studies had diagnostic confidence ratings of 1 (best). Twenty-six studies reported discriminative perceptual measures, 14 reported discriminative acoustic markers, and four reported discriminative kinematic markers. Measures were diverse, and only two studies directly replicated previous findings. Overall, seven studies met the quality criteria, and another eight nearly met the study criteria to warrant further investigation. Conclusions There are no studies of the highest diagnostic quality. There are 15 studies that can contribute to further diagnostic efforts discriminating CAS from other SSDs. Future research should utilize careful diagnostic design, support replication, and adhere to standard reporting guidelines. Supplemental Material https://doi.org/10.23641/asha.13158149.
Topics: Apraxias; Child; Diagnosis, Differential; Humans; Retrospective Studies; Speech; Speech Disorders; Speech Sound Disorder
PubMed: 33151751
DOI: 10.1044/2020_AJSLP-20-00063 -
Journal of Clinical Neuroscience :... May 2021Eyelid closing or opening disorders have been only sporadically described in patients with focal brain lesions over the last decades. Furthermore, the restricted number...
Eyelid closing or opening disorders have been only sporadically described in patients with focal brain lesions over the last decades. Furthermore, the restricted number of reports and the lack of uniform clinical assessment of affected individuals did not allow to define more in depth the clinical features and the underlying neural correlates of these uncommon clinical disorders. Here we report an 89-years old woman with a right hemispheric lesion who showed a contralesional defect of eyelid closure. We also include a video neuroimage of this case and a review of eyelid closing and opening disorders in patients with focal unilateral lesions. In this review we found a correlation between right hemisphere and eyelid motor control, particularly for apraxia of eyelid closure affecting only the contralesional eye. The right parietal lobe was most frequently affected in this unilateral form of eyelid closing disorders, whereas putamen and other subcortical structures were more involved in eyelid opening than in eyelid closing disorders. The relations between unilateral eyelid closing disorders and other forms of motor-intentional defects are shortly discussed.
Topics: Aged; Aged, 80 and over; Apraxias; Brain Injuries; Eyelid Diseases; Eyelids; Female; Humans; Male; Middle Aged; Parietal Lobe
PubMed: 33863537
DOI: 10.1016/j.jocn.2021.02.020