Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0004352 (autism)
 32,579 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The release of smartphones and tablets, which offer more advanced communication and computing capabilities, has led to the strong emergence of mHealth on the market. mHealth systems are being used to improve patients' lives and their health, in addition to facilitating communication between doctors and patients. Researchers are now proposing mHealth applications for many health conditions such as dementia, autism, dysarthria, Parkinson's disease, and so on. Usability becomes a key factor in the adoption of these applications, which are often used by people who have problems when using mobile devices and who have a limited experience of technology. The aim of this paper is to investigate the empirical usability evaluation processes described in a total of 22 selected studies related to mHealth applications by means of a Systematic Literature Review. Our results show that the empirical evaluation methods employed as regards usability could be improved by the adoption of automated mechanisms. The evaluation processes should also be revised to combine more than one method. This paper will help researchers and developers to create more usable applications. Our study demonstrates the importance of adapting health applications to users' need.
...
PMID:Empirical studies on usability of mHealth apps: a systematic literature review. 2560 Jan 93

Recurrent deletions of a ~600-kb region of 16p11.2 have been associated with a highly penetrant form of childhood apraxia of speech (CAS). Yet prior findings have been based on a small, potentially biased sample using retrospectively collected data. We examine the prevalence of CAS in a larger cohort of individuals with 16p11.2 deletion using a prospectively designed assessment battery. The broader speech and language phenotype associated with carrying this deletion was also examined. 55 participants with 16p11.2 deletion (47 children, 8 adults) underwent deep phenotyping to test for the presence of CAS and other speech and language diagnoses. Standardized tests of oral motor functioning, speech production, language, and non-verbal IQ were conducted. The majority of children (77%) and half of adults (50%) met criteria for CAS. Other speech outcomes were observed including articulation or phonological errors (i.e., phonetic and cognitive-linguistic errors, respectively), dysarthria (i.e., neuromuscular speech disorder), minimal verbal output, and even typical speech in some. Receptive and expressive language impairment was present in 73% and 70% of children, respectively. Co-occurring neurodevelopmental conditions (e.g., autism) and non-verbal IQ did not correlate with the presence of CAS. Findings indicate that CAS is highly prevalent in children with 16p11.2 deletion with symptoms persisting into adulthood for many. Yet CAS occurs in the context of a broader speech and language profile and other neurobehavioral deficits. Further research will elucidate specific genetic and neural pathways leading to speech and language deficits in individuals with 16p11.2 deletions, resulting in more targeted speech therapies addressing etiological pathways.
 ...
PMID:Deep phenotyping of speech and language skills in individuals with 16p11.2 deletion. 2944 22

What the cerebellum does to sensorimotor and vestibular control, it also does to cognition, emotion, and autonomic function. This hypothesis is based on the theories of dysmetria of thought and the universal cerebellar transform, which hold that the cerebellum maintains behavior around a homeostatic baseline, automatically, without conscious awareness, informed by implicit learning, and performed according to context. Functional topography within the cerebellum facilitates the modulation of distributed networks subserving multiple different functions. The sensorimotor cerebellum is represented in the anterior lobe with a second representation in lobule VIII, and lesions of these areas lead to the cerebellar motor syndrome of ataxia, dysmetria, dysarthria and impaired oculomotor control. The cognitive / limbic cerebellum is in the cerebellar posterior lobe, with current evidence pointing to three separate topographic representations, the nature of which remain to be determined. Posterior lobe lesions result in the cerebellar cognitive affective syndrome (CCAS), the hallmark features of which include deficits in executive function, visual spatial processing, linguistic skills and regulation of affect. The affective dyscontrol manifests in autism spectrum and psychosis spectrum disorders, and disorders of emotional control, attentional control, and social skill set. This report presents an overview of the rapidly growing field of the clinical cognitive neuroscience of the cerebellum. It commences with a brief historical background, then discusses tract tracing experiments in animal models and functional imaging observations in humans that subserve the cerebellar contribution to neurological function. Structure function correlation studies following focal cerebellar lesions in adults and children permit a finer appreciation of the functional topography and nature of the cerebellar motor syndrome, cerebellar vestibular syndrome, and the third cornerstone of clinical ataxiology - the cerebellar cognitive affective syndrome. The ability to detect the CCAS in real time in clinical neurology with a brief and validated scale should make it possible to develop a deeper understanding of the clinical consequences of cerebellar lesions in a wide range of neurological and neuropsychiatric disorders with a link to the cerebellum.
 ...
PMID:The cerebellum and cognition. 2999 61

Estimates of the prevalence of speech and motor speech disorders in persons with complex neurodevelopmental disorders (CND) can inform research in the biobehavioural origins and treatment of CND. The goal of this research was to use measures and analytics in a diagnostic classification system to estimate the prevalence of speech and motor speech disorders in convenience samples of speakers with one of eight types of CND. Audio-recorded conversational speech samples from 346 participants with one of eight types of CND were obtained from a database of participants recruited for genetic and behavioural studies of speech sound disorders (i.e., excluding dysfluency) during the past three decades. Data reduction methods for the speech samples included narrow phonetic transcription, prosody-voice coding, and acoustic analyses. Standardized measures were used to cross-classify participants' speech and motor speech status. Compared to the 17.8% prevalence of four types of motor speech disorders reported in a study of 415 participants with idiopathic Speech Delay (SD), 47.7% of the present participants with CND met criteria for one of four motor speech disorders, including Speech Motor Delay (25.1%), Childhood Dysarthria (13.3%), Childhood Apraxia of Speech (4.3%), and concurrent Childhood Dysarthria and Childhood Apraxia of Speech (4.9%). Findings are interpreted to indicate a substantial prevalence of speech disorders, and notably, a substantial prevalence of motor speech disorders in persons with some types of CND. We suggest that diagnostic classification information from standardized motor speech assessment protocols can contribute to research in the pathobiologies of CND. Abbreviations: 16p: 16p11.2 deletion and duplication syndrome; 22q: 22q11.2 deletion syndrome; ASD: Autism Spectrum Disorder; CAS: Childhood Apraxia of Speech; CD: Childhood Dysarthria; CND: Complex Neurodevelopmental Disorder; DS: Down syndrome; FXS: Fragile X syndrome; GAL: Galactosemia; IID: Idiopathic Intellectual Disability; MSD: Motor Speech Disorder; No MSD: No Motor Speech Disorder; NSA: Normal(ized) Speech Acquisition; PEPPER: Programs to Examine Phonetic and Phonologic Evaluation Records; PSD: Persistent Speech Delay; PSE: Persistent Speech Errors; SD: Speech Delay; SDCS: Speech Disorders Classification System; SDCSS: Speech Disorders Classification System Summary; SE: Speech Errors; SMD: Speech Motor Delay; SSD: Speech Sound Disorders; TBI: Traumatic Brain Injury.
 ...
PMID:Estimates of the prevalence of speech and motor speech disorders in persons with complex neurodevelopmental disorders. 3122 Oct 12

Purpose Functional brain imaging is playing an increasingly important role in the diagnosis and treatment of communication disorders, yet many populations and settings are incompatible with functional magnetic resonance imaging and other commonly used techniques. We conducted a systematic review of neuroimaging studies using functional near-infrared spectroscopy (fNIRS) with individuals with speech or language impairment across the life span. We aimed to answer the following question: To what extent has fNIRS been used to investigate the neural correlates of speech-language impairment? Method This systematic review was preregistered with PROSPERO, the international prospective register of systematic reviews (CRD42019136464). We followed the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) protocol for preferred reporting items for systematic reviews. The database searches were conducted between February and March of 2019 with the following search terms: (a) fNIRS or functional near-infrared spectroscopy or NIRS or near-infrared spectroscopy, (b) speech or language, and (c) disorder or impairment or delay. Results We found 34 fNIRS studies that involved individuals with speech or language impairment across nine categories: (a) autism spectrum disorders; (b) developmental speech and language disorders; (c) cochlear implantation and deafness; (d) dementia, dementia of the Alzheimer's type, and mild cognitive impairment; (e) locked-in syndrome; (f) neurologic speech disorders/dysarthria; (g) stroke/aphasia; (h) stuttering; and (i) traumatic brain injury. Conclusions Though it is not without inherent challenges, fNIRS may have advantages over other neuroimaging techniques in the areas of speech and language impairment. fNIRS has clinical applications that may lead to improved early and differential diagnosis, increase our understanding of response to treatment, improve neuroprosthetic functioning, and advance neurofeedback.
 ...
PMID:Functional Near-Infrared Spectroscopy in the Study of Speech and Language Impairment Across the Life Span: A Systematic Review. 3264 Jan 68

Phosphatidylinositol Glycan Anchor Biosynthesis class H (PIGH) is an essential player in the glycosylphosphatidylinositol (GPI) synthesis, an anchor for numerous cell membrane-bound proteins. PIGH deficiency is a newly described and rare disorder associated with developmental delay, seizures and behavioral difficulties. Herein, we report three new unrelated families with two different bi-allelic PIGH variants, including one new variant p.(Arg163Trp) which seems associated with a more severe phenotype. The common clinical features in all affected individuals are developmental delay/intellectual disability and hypotonia. Variable clinical features include seizures, autism spectrum disorder, apraxia, severe language delay, dysarthria, feeding difficulties, facial dysmorphisms, microcephaly, strabismus, and musculoskeletal anomalies. The two siblings homozygous for the p.(Arg163Trp) variant have severe symptoms including profound psychomotor retardation, intractable seizures, multiple bone fractures, scoliosis, loss of independent ambulation, and delayed myelination on brain MRI. Serum iron levels were significantly elevated in one individual. All tested individuals with PIGH deficiency had normal alkaline phosphatase and CD16, a GPI-anchored protein (GPI-AP), was found to be decreased by 60% on granulocytes from one individual. This study expands the PIGH deficiency phenotype range toward the severe end of the spectrum with the identification of a novel pathogenic variant.
 ...
PMID:PIGH deficiency can be associated with severe neurodevelopmental and skeletal manifestations. 3315 47