Now, in the field of developmental disorders and even autism, rare disease is not uncommon! Because autism spectrum disorder is a general term for a group of diseases, it can be divided into classical autism and syndrome autism, among which syndrome autism accounts for 20-30% of the total number of the spectrum.
Most syndrome autism is a rare disease. For example, what we often say includes fragile X chromosome syndrome, nodular sclerosis, Rett syndrome, etc. One of the largest exome sequencing studies of autism spectrum disorder (ASD) has identified 102 high-risk genes for autism, which means that there may be nearly a hundred rare autism diseases.
At the same time, at least 7 rare diseases are closely related to autism, which show common symptoms of classical autism and also have their own special symptoms.
Let's get to know some of them
Little Girl
Angel Syndrome
Angelic Syndrome is a hereditary disease affecting nervous system . It originates from chromosome 15 abnormalities, which usually originate from the mother. It is estimated that about 1 in every 15,000 people suffer from Angel Syndrome. The initial symptoms usually appear around 1 year old and become more pronounced in early childhood. Angel syndrome is usually characterized by speech disorders, extreme activity, motor skills and balance problems. Children often have smiles on their faces, lack of language ability, and low intelligence. A considerable proportion of patients will have epilepsy and microcephaly .
Williams syndrome
Williams syndrome
Williams syndrome is a rare genetic disease with a prevalence rate of 1/10000. Many patients with Williams syndrome exhibit autistic behaviors such as: physical and language delays, large motor skills problems, voice sensitivity, and picky eating. They also have unique elf-like facial features—almond-shaped eyes, oval ears, plump lips, small chin, narrow face and wide mouth.
Pradeweili syndrome
Pradeweili syndrome is a disease related to autism, but is not a subtype of autism, with a prevalence of 1/10,000. Like Angel Syndrome, it originates from chromosome 15 abnormalities, but unlike this abnormality usually originates from the paternal line.
The typical characteristic of this disease is food obsession, so many people with Prad Willie Syndrome are overweight. Common behavioral manifestations include language and motor development delay, learning disability, , sleep disorder, , feeding problems during infancy, and dull pain. Most patients have mild mental deficiencies.
What is rare disease
Rare diseases refer to diseases with extremely low incidence. 80% of rare diseases are related to genetic gene , and about 50% of rare diseases occur at birth or in childhood.
The widely known rare diseases include ALS , spinal muscular atrophy, Prader-Willi syndrome, phenylketonuria , severe thalassemia, osteogenesis incompleteness , mucopolysaccharide, hyperammonia, organic acidemia, Wilson's disease, etc.
Rare diseases do not mean incurable diseases. Prevention and early treatment will help you achieve twice the result with half the effort. Early detection and early intervention are the best ways to prevent and treat rare diseases. Family members can also further perform tandem mass spectrometry or gene screening for common genetic diseases in newborns to detect potential genetic diseases in early stages of children
