communication disorders

OBJECTIVES: Visual impairment and blindness are major public health problems causing significant suffering, disability, loss of productivity, and diminishing quality of life for millions of people. This study explored the factors associated with the overall vision-related quality of life (VRQoL) and its different domains in the adult population of Nagorno Karabakh and assessed the independent contribution of specific eye diseases to VRQoL. STUDY DESIGN: A cross-sectional study...

Purpose: This review provides clinicians with an overview of recent findings relevant to understanding why listeners with normal hearing thresholds (NHTs) sometimes suffer from communication difficulties in noisy settings. Method: The results from neuroscience and psychoacoustics are reviewed. Results: In noisy settings, listeners focus their attention by engaging cortical brain networks to suppress unimportant sounds; they then can analyze and understand an important sound, such as speech, amidst competing sounds...

BACKGROUND: Over the past 20 years, studies have revealed that the communication of a pre-symptomatic test (PST) result for late-onset diseases, such as Huntington’s disease (HD), doesn’t cause psychological disturbance. This cross-sectional study investigated the middle- (4 years) to long-term (7 and 10 years) psychological impact of PST for 3 autosomal dominant late-onset diseases: HD, Machado-Joseph disease (DMJ) and familial amyloid polyneuropathy (FAP). METHOD: The study included 203 subjects: 170 (84%) agreed to make the PST for FAP, 29 (14%) for HD and 4 (2%) for MJD...

BACKGROUND: Chromosome 15q11.2-q13.1 duplication syndrome (Dup15q syndrome) is a rare disorder caused by duplications of chromosome 15q11.2-q13.1, resulting in a wide range of developmental disabilities in affected individuals. The Dup15q Alliance is an organization that provides family support and promotes research to improve the quality of life of patients living with Dup15q syndrome. Because of the low prevalence of this condition, the establishment of a single research repository would have been difficult and more time consuming without collaboration across multiple institutions...

OBJECTIVES: Autism spectrum disorder (ASD) refers to a group of conditions variably affecting communicative and social interactive abilities presenting alongside behaviors with various restricted and repetitive patterns. In addition to genetic factors that influence the onset of the symptoms, there is growing interest in the potential involvement of non-genetic environmental factors. Some aspects of breastfeeding practices, including rates, timing, or optimality, have been put forward as environmental risk factors for autism...

INTRODUCTION: Epilepsy is a neurological disorder involving recurrent seizures. It affects approximately 5 million people in the U.S. To optimize their quality of life people with epilepsy are encouraged to engage in self-management (S-M) behaviors. These include managing their treatment (e.g., adhering to anti-seizure medication and clinical visit schedules), managing their seizures (e.g., responding to seizure episodes), managing their safety (e.g., monitoring and avoiding environmental seizure triggers), and managing their co-morbid conditions (e...

Aging, the universal phenomenon, affects human health and is the primary risk factor for major disease pathologies. Progeroid diseases, which mimic aging at an accelerated rate, have provided cues in understanding the hallmarks of aging. Mutations in DNA repair genes as well as in telomerase subunits are known to cause progeroid syndromes. Werner syndrome (WS), which is characterized by accelerated aging, is an autosomal-recessive genetic disorder. Hallmarks that define the aging process include genomic instability, telomere attrition, epigenetic alterations, loss of proteostasis, deregulation of nutrient sensing, mitochondrial dysfunction, cellular senescence, stem cell exhaustion, and altered intercellular communication...

BACKGROUND: Little research in fragile X syndrome (FXS) has prospectively examined early social communication. AIMS: To compare early social communication in infants with FXS, infant siblings of children with autism spectrum disorder (ASIBs), and typically developing (TD) infants. METHODS AND PROCEDURES: Participants were 18 infants with FXS, 21 ASIBs, and 22 TD infants between 7.5-14.5 months. Social communication was coded using the Communication Complexity Scale during the administration of Autism Observation Scale for Infants...

Autism spectrum disorder (ASD) is a neurodevelopmental disorder characterized by persistent deficits in social communication and interaction, and restricted, repetitive patterns of behaviour, interests and activities. Various factors are involved in the etiopathogenesis of ASD, including genetic factors, environmental toxins and stressors, impaired immune responses, mitochondrial dysfunction, neuroinflammation. The heterogeneity in the phenotype among ASD patients and the complex etiology of the condition have long impeded the advancement of the development of pharmacological therapies...

Individuals with autism spectrum disorder (ASD) have difficulties with social interaction and communication. First-hand accounts written by individuals with ASD have shown the existence of other atypical characteristics such as difficulties with body awareness. However, few studies have examined whether such atypicalities are found more generally among individuals with ASD. We examined body image (i.e., self-body awareness) by asking individuals with ASD and typically developing (TD) individuals to estimate their own body size (shoulder width)...

BACKGROUND: Autism is currently known as "a behaviorally defined syndrome" manifested as impairment in social communication, repetitive routines and restricted interests. There is an increased risk of ASDs associated with common mutations affecting the folate/methylation cycle. AIM: The aim of this study was to identify C677T and 1298AC polymorphic genotypes of MTHFR gene among a sample of Egyptian children with autism and to make a phenotype-genotype correlation for the autistic patients...

OBJECTIVE: Trisomy 18 is one of the major numerical chromosomal disorders. The incidence of trisomy 18 is approximately one in 6000 live births. Dandy-Walker malformation (DWM) is the most common congenital malformation of the cerebellum, with an incidence of about one in 5000 live births. The incidence of trisomy 18 associated with DWM is rare and long-term survival rate is very low. CASE REPORT: A case involving a 39-year-old pregnant female with a case of trisomy 18 associated with DWM...

BACKGROUND: Angelman syndrome (AS) is a rare disorder with a relatively well-defined phenotype. Despite this, very little is known regarding the unmet clinical needs and burden of this condition, especially with regard to some of the most prevalent clinical features-movement disorders, communication impairments, behavior, and sleep. MAIN TEXT: A targeted literature review using electronic medical databases (e.g., PubMed) was conducted to identify recent studies focused on specific areas of the AS phenotype (motor, communication, behavior, sleep) as well as epidemiology, diagnostic processes, treatment, and burden...

Ultrasonic vocalizations (USVs) in neonatal mice provide a means of modeling communication deficits in neurodevelopmental disorders. Mature mice deficient in SAP90/PSD95-associated protein 3 (SAPAP3) display compulsive grooming and anxiety-like behavior, conditions that are often associated with neurodevelopmental disorders. To date, however, aspects of neurodevelopment have not been investigated in SAPAP3-deficient mice. Here, we examined whether neonatal SAPAP3-deficient mice display altered USVs. We recorded USVs from 5-day-old sapap3 and sapap3 mice, and also monitored developmental reflexes in these mice during the early postnatal period...

OBJECTIVE: Rodent models of Alcohol Use Disorders (AUD) are used extensively by preclinical researchers to develop new therapeutics for the treatment of AUD. Although these models play an important role in the development of novel, targeted therapeutics, their role in bringing therapeutics to clinical trials is unclear, as off-label use of existing medications not approved for the treatment of AUD is commonly seen in the clinic and clinical trials. METHOD: In the current study, we used the Clinicaltrials...

Autism spectrum disorder (ASD) is characterized by deficits in social communication and interaction. Since its discovery as a major functional brain system, the default mode network (DMN) has been implicated in a number of psychiatric disorders, including ASD. Here we review converging multimodal evidence for DMN dysfunction in the context of specific components of social cognitive dysfunction in ASD: 'self-referential processing' - the ability to process social information relative to oneself and 'theory of mind' or 'mentalizing' - the ability to infer the mental states such as beliefs, intentions, and emotions of others...

The prefrontal cortex (PFC) is deeply involved in higher brain functions, many of which are altered in psychiatric conditions. The PFC exerts a top-down control of most cortical and subcortical areas through descending pathways and is densely innervated by axons emerging from the brainstem monoamine cell groups, namely, the dorsal and median raphe nuclei (DR and MnR, respectively), the ventral tegmental area and the locus coeruleus (LC). In turn, the activity of these cell groups is tightly controlled by afferent pathways arising from layer V PFC pyramidal neurons...

The Autistic Spectrum Disorder is a cognitive disorder that affects the cognitive and motor skills; due that, users cannot perform digital and fine motor tasks. It is necessary to create software applications that adapt to the abilities of these users. In recent years has been an increase in the research of the use of technology to support autistic users to develop their communication skills and to improve learning. However, the applications' usability for disable users is not assessed objectively as the existing models do not consider interaction operators for disable users...

There has been an explosion of interest in the study of microorganisms inhabiting the gastrointestinal tract (gut microbiota) and their impact on host health and physiology. Accumulating data suggest that altered communication between gut microbiota and host systems could participate in disorders such as obesity, diabetes mellitus, and autoimmune disorders as well as neuropsychiatric disorders, including autism, anxiety, and major depressive disorders. The conceptual development of the microbiome-gut-brain axis has facilitated understanding of the complex and bidirectional networks between gastrointestinal microbiota and their host, highlighting potential mechanisms through which this environment influences central nervous system physiology...

In addition to deficits in social communication, individuals diagnosed with Autism Spectrum Disorder (ASD) frequently exhibit changes in sensory and multisensory function. Recent evidence has focused on changes in audiovisual temporal processing, and has sought to relate these sensory-based changes to weaknesses in social communication. These changes in audiovisual temporal function manifest as differences in the temporal epoch or "window" within which paired auditory and visual stimuli are integrated or bound, with those with ASD exhibiting expanded audiovisual temporal binding windows (TBWs)...