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The term regressive autism refers to the appearance that neurological development has reversed; it is actually only the affected developmental skills, rather than the neurology as a whole, that regresses. Usually, the apparent onset of regressive autism can be surprising and distressing to parents, who often initially suspect severe hearing ...
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 problems. [6]
Developmental disability is a diverse group of chronic conditions, comprising mental or physical impairments that arise before adulthood. Developmental disabilities cause individuals living with them many difficulties in certain areas of life, especially in "language, mobility, learning, self-help, and independent living". [1]
Autism spectrum disorder [a] (ASD), or simply autism, is a neurodevelopmental disorder "characterized by persistent deficits in social communication and social interaction across multiple contexts" and "restricted, repetitive patterns of behavior, interests, or activities". [11] Sensory abnormalities are also included in the diagnostic manuals ...
Angelman syndrome, autism, cerebral palsy, childhood disintegrative disorder, various neurodegenerative disorders [6] Treatment: Special education, physiotherapy, braces [5] Medication: Anticonvulsants [5] Prognosis: Life expectancy for many is middle age. [5] Frequency: 1 in 8,500 females [4] Lethal in males, with rare exceptions.
Fragile X syndrome co-occurs with autism in many cases and is a suspected genetic cause of the autism in these cases. [ 11 ] [ 22 ] This finding has resulted in screening for FMR1 mutation to be considered mandatory in children diagnosed with autism. [ 11 ]
The disorder may be accompanied by autism, [1] mild intellectual disability, delayed motor, cognitive, and social development, hypotonia (low muscle tone), and speech impairments. Children with Sotos syndrome tend to be large at birth and are often taller, heavier, and have relatively large skulls ( macrocephaly ) than is normal for their age.
The most striking sign of Timothy syndrome type 1 is the co-occurrence of both syndactyly (about 0.03% of births) and long QT syndrome (1% per year) in a single patient. . Other common symptoms include cardiac arrhythmia (94%), heart malformations (59%), and autism or an autism spectrum disorder (80% who survive long enough for evaluati