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Rett syndrome (RTT) is a genetic disorder that typically becomes apparent after 6-18 months of age and almost exclusively in girls. [4] Symptoms include impairments in language and coordination, and repetitive movements. [4]
Examples of AAC may be written language, body language, and facial expressions. [17] It is within the scope of practice for speech-language pathologists to provide a thorough AAC evaluation taking into consideration all factors such as sensory, motor, kinesthetic, speech, and receptive as well as expressive language in its verbal and non-verbal ...
Trofinetide is indicated for the treatment of Rett syndrome in people two years of age and older. [3] [8] Rett syndrome is a rare, genetic neurological and developmental disorder that affects the way the brain develops. [4] People with Rett syndrome experience a progressive loss of motor skills and language. [4]
XY complete gonadal dysgenesis, also known as Swyer syndrome, is a type of defect hypogonadism in a person whose karyotype is 46,XY. Though they typically have normal vulvas , [ 1 ] the person has underdeveloped gonads, fibrous tissue termed " streak gonads ", and if left untreated, will not experience puberty .
The benefits of dual sensory clinics include improved communication between the different health care professionals (HCPs) involved in management of Norrie disease (e.g. ophthalmologists and audiologists) as well as allowing more consistent training of staff on best practices for managing and interacting with individuals with sensory impairment.
Steatopygia is found in both male and female people of afrodescent. Steatopygia is a phenotype that African subracial groups kept from ancient humans when they started walking on two feet. Steotopygia forms a default triangle shape body build regardless of the body weight meaning even being severely underweight keep a triangle shape body for ...
Trousseau's syndrome is a rare variant of venous thrombosis that is characterized by recurrent, migratory thrombosis in superficial veins and in uncommon sites, such as the chest wall and arms. This syndrome is particularly associated with pancreatic, gastric and lung cancer and Trousseau's syndrome can be an early sign of cancer [ 2 ] [ 3 ...
Compartment syndrome (Acute or chronic exertional) Calf muscles /general Adult-onset Muscle swelling due to increased internal pressure from bleeding and inflammatory reactions. Muscle swelling in chronic exertional compartment syndrome relieves with rest. Acute compartment syndrome due to injury requires surgery. [96] Short stature Myhre syndrome