| Faundes-Banka syndrome | |
|---|---|
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| Long ear is seen in patients with Faundes-Banka syndrome |
Faundes-Banka syndrome (FABAS) is an autosomal dominant disorder characterized by variable combinations of developmental delay and microcephaly, as well as micrognathia and other dysmorphic features. It is caused by impaired function of EIF5A. [1]
It was named after Víctor Faundes and Siddharth Banka.
A communication disorder is any disorder that affects an individual's ability to comprehend, detect, or apply language and speech to engage in dialogue effectively with others. This also encompasses deficiencies in verbal and non-verbal communication styles. The delays and disorders can range from simple sound substitution to the inability to understand or use one's native language. This article covers subjects such as diagnosis, the DSM-IV, the DSM-V, and examples like sensory impairments, aphasia, learning disabilities, and speech disorders.
Speech disorders or speech impairments are a type of communication disorder in which normal speech is disrupted. This can mean fluency disorders like stuttering, cluttering or lisps. Someone who is unable to speak due to a speech disorder is considered mute. Speech skills are vital to social relationships and learning, and delays or disorders that relate to developing these skills can impact individuals function. For many children and adolescents, this can present as issues with academics. Speech disorders affect roughly 11.5% of the US population, and 5% of the primary school population. Speech is a complex process that requires precise timing, nerve and muscle control, and as a result is susceptible to impairments. A person who has a stroke, an accident or birth defect may have speech and language problems.
Mental disability may refer to:
A physical disability is a limitation on a person's physical functioning, mobility, dexterity or stamina. Other physical disabilities include impairments which limit other facets of daily living, such as respiratory disorders, blindness, epilepsy and sleep disorders.
Dysgraphia is a neurological disorder and learning disability that concerns impairments in written expression, which affects the ability to write, primarily handwriting, but also coherence. It is a specific learning disability (SLD) as well as a transcription disability, meaning that it is a writing disorder associated with impaired handwriting, orthographic coding and finger sequencing. It often overlaps with other learning disabilities and neurodevelopmental disorders such as speech impairment, attention deficit hyperactivity disorder (ADHD) or developmental coordination disorder (DCD).
Cognitive disorders (CDs), also known as neurocognitive disorders (NCDs), are a category of mental health disorders that primarily affect cognitive abilities including learning, memory, perception, and problem-solving. Neurocognitive disorders include delirium, mild neurocognitive disorders, and major neurocognitive disorder. They are defined by deficits in cognitive ability that are acquired, typically represent decline, and may have an underlying brain pathology. The DSM-5 defines six key domains of cognitive function: executive function, learning and memory, perceptual-motor function, language, complex attention, and social cognition.
HIV-associated neurocognitive disorders (HAND) are neurological disorders associated with HIV infection and AIDS. It is a syndrome of progressive deterioration of memory, cognition, behavior, and motor function in HIV-infected individuals during the late stages of the disease, when immunodeficiency is severe. HAND may include neurological disorders of various severity. HIV-associated neurocognitive disorders are associated with a metabolic encephalopathy induced by HIV infection and fueled by immune activation of macrophages and microglia. These cells are actively infected with HIV and secrete neurotoxins of both host and viral origin. The essential features of HIV-associated dementia (HAD) are disabling cognitive impairment accompanied by motor dysfunction, speech problems and behavioral change. Cognitive impairment is characterised by mental slowness, trouble with memory and poor concentration. Motor symptoms include a loss of fine motor control leading to clumsiness, poor balance and tremors. Behavioral changes may include apathy, lethargy and diminished emotional responses and spontaneity. Histopathologically, it is identified by the infiltration of monocytes and macrophages into the central nervous system (CNS), gliosis, pallor of myelin sheaths, abnormalities of dendritic processes and neuronal loss.
Memory disorders are the result of damage to neuroanatomical structures that hinders the storage, retention and recollection of memories. Memory disorders can be progressive, including Alzheimer's disease, or they can be immediate including disorders resulting from head injury.
Schizophreniform disorder is a mental disorder diagnosed when symptoms of schizophrenia are present for a significant portion of time, but signs of disturbance are not present for the full six months required for the diagnosis of schizophrenia.
Frontal lobe disorder, also frontal lobe syndrome, is an impairment of the frontal lobe of the brain due to disease or frontal lobe injury. The frontal lobe plays a key role in executive functions such as motivation, planning, social behaviour, and speech production. Frontal lobe syndrome can be caused by a range of conditions including head trauma, tumours, neurodegenerative diseases, neurodevelopmental disorders, neurosurgery and cerebrovascular disease. Frontal lobe impairment can be detected by recognition of typical signs and symptoms, use of simple screening tests, and specialist neurological testing.
Organic brain syndrome, also known as organic brain disease, organic brain damage, organic brain disorder, organic mental syndrome, or organic mental disorder, refers to any syndrome or disorder of mental function whose cause is alleged to be known as organic (physiologic) rather than purely of the mind. These names are older and nearly obsolete general terms from psychiatry, referring to many physical disorders that cause impaired mental function. They are meant to exclude psychiatric disorders. Originally, the term was created to distinguish physical causes of mental impairment from psychiatric disorders, but during the era when this distinction was drawn, not enough was known about brain science for this cause-based classification to be more than educated guesswork labeled with misplaced certainty, which is why it has been deemphasized in current medicine. While mental or behavioural abnormalities related to the dysfunction can be permanent, treating the disease early may prevent permanent damage in addition to fully restoring mental functions. An organic cause to brain dysfunction is suspected when there is no indication of a clearly defined psychiatric or "inorganic" cause, such as a mood disorder.
3-Methylglutaconic aciduria (MGA) is any of at least five metabolic disorders that impair the body's ability to make energy in the mitochondria. As a result of this impairment, 3-methylglutaconic acid and 3-methylglutaric acid build up and can be detected in the urine.
Speech–language pathology (also known as speech and language pathology or logopedics) is a healthcare and academic discipline concerning the evaluation, treatment, and prevention of communication disorders, including expressive and mixed receptive-expressive language disorders, voice disorders, speech sound disorders, speech disfluency, pragmatic language impairments, and social communication difficulties, as well as swallowing disorders across the lifespan. It is an allied health profession regulated by professional bodies including the American Speech-Language-Hearing Association (ASHA) and Speech Pathology Australia. The field of speech-language pathology is practiced by a clinician known as a speech-language pathologist (SLP) or a speech and language therapist (SLT). SLPs also play an important role in the screening, diagnosis, and treatment of autism spectrum disorder (ASD), often in collaboration with pediatricians and psychologists.
Cognitive impairment is an inclusive term to describe any characteristic that acts as a barrier to the cognition process or different areas of cognition. Cognition, also known as cognitive function, refers to the mental processes of how a person gains knowledge, uses existing knowledge, and understands things that are happening around them using their thoughts and senses. A cognitive impairment can be in different domains or aspects of a person's cognitive function including memory, attention span, planning, reasoning, decision-making, language, executive functioning, and visuospatial functioning. The term cognitive impairment covers many different diseases and conditions and may also be symptom or manifestation of a different underlying condition. Examples include impairments in overall intelligence ,specific and restricted impairments in cognitive abilities, neuropsychological impairments, or it may describe drug-induced impairment in cognition and memory. Cognitive impairments may be short-term, progressive or permanent.
Alcohol-related dementia (ARD) is a form of dementia caused by long-term, excessive consumption of alcoholic beverages, resulting in neurological damage and impaired cognitive function.
Infantile neuroaxonal dystrophy (INAD) is a rare pervasive developmental disorder that primarily affects the nervous system. Individuals with infantile neuroaxonal dystrophy typically do not have any symptoms at birth, but between the ages of about 6 and 18 months they begin to experience delays in acquiring new motor and intellectual skills, such as crawling or beginning to speak. Eventually they lose previously acquired skills.
Eukaryotic translation initiation factor 5A-1 is a protein that in humans is encoded by the EIF5A gene.
Cranial nerve disease is an impaired functioning of one of the twelve cranial nerves. Although it could theoretically be considered a mononeuropathy, it is not considered as such under MeSH.
A neurological disorder is any disorder of the nervous system. Structural, biochemical or electrical abnormalities in the brain, spinal cord or other nerves can result in a range of symptoms. Examples of symptoms include paralysis, muscle weakness, poor coordination, loss of sensation, seizures, confusion, pain, tauopathies, and altered levels of consciousness. There are many recognized neurological disorders, some relatively common, but many rare. They may be assessed by neurological examination, and studied and treated within the specialties of neurology and clinical neuropsychology.
Long ear is a condition in which the ears are unusually long from top to bottom. This is defined as the median longitudinal ear length being over 2 SD from the mean external ear length.