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Familial dysautonomia (FD), also known as Riley–Day syndrome, is a rare, [2] progressive, [3] recessive genetic disorder of the autonomic nervous system [2] that affects the development and survival of sensory, sympathetic, and some parasympathetic neurons in the autonomic and sensory nervous system.
1 Diseases of neonates and children younger than five years. ... Disability-adjusted life year for childhood-cluster diseases per 100,000 inhabitants.
Currently there is no cure for DESSH syndrome, and the treatment relies on managing its symptoms. Children with DESSH often require several forms of support, including physical therapy, occupational therapy and speech therapy. The treatment also involves screening for autism, neurological issues, ocular abnormalities and kidney deficits.
These disorders negatively impact the mental and social wellbeing of a child, and children with these disorders require support from their families and schools. Childhood mental disorders often persist into adulthood. These disorders are usually first diagnosed in infancy, childhood, or adolescence, as laid out in the DSM-5-TR and in the ICD-11 ...
McDonough syndrome, also known as Mental retardation, peculiar facies, kyphoscoliosis, diastasis recti, cryptorchidism, and congenital heart defect is a very rare multi-systemic genetic disorder which is characterized by facial dysmorphisms, psychomotor delays, intellectual disabilities, and congenital heart defects.
Children with these conditions may have the same diagnoses, but their abilities and levels of functioning widely vary across and within individuals over time. The first draft of the International Classification of Functioning, Disability and Health for Children and Youth (ICF-CY) was completed in year 2003 and published in 2007. The ICF-CY was ...
Clinically significant symptoms of these two conditions commonly co-occur, and children with both sets of symptoms may respond poorly to standard ADHD treatments. Individuals with autism spectrum disorder may benefit from additional types of medications. [16] [17] The term AuDHD is sometimes used for those with both autism and ADHD.
1p36 deletion syndrome is a congenital genetic disorder characterized by moderate to severe intellectual disability, delayed growth, hypotonia, seizures, limited speech ability, malformations, hearing and vision impairment, and distinct facial features. The symptoms may vary, depending on the exact location of the chromosomal deletion. [1]
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