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Frequency. 1 in 12,000 to 20,000 people [6] Angelman syndrome (AS) is a genetic disorder that mainly affects the nervous system. [6] Symptoms include a small head and a specific facial appearance, severe intellectual disability, developmental disability, limited to no functional speech, balance and movement problems, seizures, and sleep ...
Most frequent are symptoms due to conjunctival or corneal irritation: burning, photophobia, tearing, pain, and a gritty or sandy sensation. [4] Protruding eyeballs (known as proptosis and exophthalmos). Diplopia (double vision) is common. [4] Limitation of eye movement (due to impairment of eye muscle function).
23 (2019) [1] Jordan's syndrome (JS) or PPP2R5D-related intellectual disability is a rare autosomal dominant neurodevelopmental disorder caused by de novo mutations in the PPP2R5D gene. [2] It is characterized by hypotonia, intellectual disability, and macrocephaly. [3] Children with JS may also have epilepsy or meet criteria for diagnosis with ...
Causes. Genetic mutations. Congenital insensitivity to pain with anhidrosis (CIPA) is a rare autosomal recessive disorder of the nervous system which prevents the feeling of pain or temperature and prevents a person from sweating. Cognitive disorders are commonly coincidental. CIPA is the fourth type of hereditary sensory and autonomic ...
People with learning disabilities often die younger ... Research has found that health checks could particularly improve life expectancy for those with autism or Down's syndrome.
When bipolar disorder occurs in children, it severely and adversely affects their psychosocial development. [122] Children and adolescents with bipolar disorder have higher rates of significant difficulties with substance use disorders, psychosis, academic difficulties, behavioral problems, social difficulties, and legal problems. [122]
Cerebral palsy (CP) is a group of movement disorders that appear in early childhood. [1] Signs and symptoms vary among people and over time, [1][3] but include poor coordination, stiff muscles, weak muscles, and tremors. [1] There may be problems with sensation, vision, hearing, and speech. [1]
Bipolar disorder in children, or pediatric bipolar disorder (PBD), is a rare mental disorder in children and adolescents. The diagnosis of bipolar disorder in children has been heavily debated for many reasons including the potential harmful effects of adult bipolar medication use for children. PBD is similar to bipolar disorder (BD) in adults ...