Figure 1 shows the typical level of intellectual disability for a range of genetic syndromes. (herts.ac.uk)
It is organized into sections by subtype of condition (e.g., infections, genetic syndromes, medication-caused) and includes a section of variants of acne that may be misdiagnosed. (nshealth.ca)
At a gathering of child neurologists in Europe near the end of the 1970s, Hagberg became aware of this change in the association of these clinical features and hyperammonemia, realized that they were observing the same disorder, and planned together with Jean Aicardi, Karin Dias, and Ovidio Ramos to publish their own combined experiences. (hindawi.com)
Tuberous sclerosis1
2001). In spite of the prevalence of autistic-like behaviours in many syndromes, autism is typically associated with a few conditions only, notably tuberous sclerosis. (herts.ac.uk)
Aicardi syndrome most often appears in females as well as in boys with Klinefelter's syndrome, a condition in which a male has an extra X chromosome. (skincarehealthcenter.com)
Rett syndrome (MIM 312750) is a neurodevelopmental disorder affecting postnatal brain growth, with a prevalence estimated to be 1:10,000 to 22,000 females. (neurology.org)
for example, females with fragile-X syndrome have milder phenotypic expression and less severe intellectual disability. (herts.ac.uk)
In a number of syndromes, such as Cornelia de Lange, milder phenotypic expression is associated with less severe intellectual disability. (herts.ac.uk)
Rett5
Rett syndrome (RTT) is a neurodevelopmental disorder caused by mutations in the X-linked methyl CpG binding protein 2 ( MeCP2 ) gene. (neurology.org)
1 Rett syndrome (RTT) is thought to be the one of the most common genetic causes of mental retardation in girls, second only to Down syndrome. (neurology.org)
Rett syndrome (RTT) has experienced remarkable progress over the past three decades since emerging as a disorder of worldwide proportions, particularly with discovery of the linkage of RTT to MECP2 mutations. (hindawi.com)
Shortly thereafter in 1981, Hagberg had a chance meeting with Rett in Toronto and following this discussion elected to name the disorder Rett syndrome. (hindawi.com)
Following this initial clinical exposure to RTT, investigations began to intensify, spurred by efforts of Hugo Moser to convene an international meeting at Johns Hopkins Medical School in 1985 and the subsequent creation of the International Rett Syndrome Association (IRSA) through the leadership of three parents, Kathy Hunter, Gail Smith, and Jane Brubaker. (hindawi.com)
Brain1
People with Aicardi syndrome have absent or underdeveloped tissue connecting the left and right halves of the brain (agenesis or dysgenesis of the corpus callosum ). (medlineplus.gov)
Skewed X-inactivation has been identified in girls with Aicardi syndrome, further supporting the idea that the disorder is caused by a mutation in a gene on the X chromosome. (medlineplus.gov)
However, this gene has not been identified, and it is unknown how the genetic change that causes Aicardi syndrome results in the various signs and symptoms of this disorder. (medlineplus.gov)
Nearly all known cases of Aicardi syndrome are sporadic, which means that they are not passed down through generations and occur in people with no history of the disorder in their family. (medlineplus.gov)
Intellectual disability3
2002). The course of the syndrome, both behaviourally and medically, is not stagnant, and the presentation of the syndrome can vary according to level of intellectual disability and input received, and can change with increasing age. (herts.ac.uk)
While Down's syndrome is the most common cause of intellectual disability, fragile-X syndrome is the most common inherited cause of learning disability (see Sabaratnam, 2003). (herts.ac.uk)
Owing to the range of intellectual disability exhibited across behavioural phenotypes, it is important to assess cognitive functioning at an early stage, particularly when the level of intellectual disability may be borderline, as in the case of Sotos and Turner syndromes, so that educational intervention can be tailored to meet the individual's needs and maximize the individual's potential (Barnard et al. (herts.ac.uk)
Occurs1
Head-banging is often associated with dental pain or upper respiratory tract infections causing sinusitis or otitis (Clarke, 2002) or gastrointestinal reflux, as commonly occurs in Cornelia de Lange syndrome. (herts.ac.uk)
Gene1
Although the underlying origin of these behaviours can sometimes be linked to a biological mechanism, such as a deficiency in the enzyme hypoxanthineguanine phosphoribosyl transferase (HPRT) in Lesch-Nyhan syndrome, in most conditions the pathway from gene to behaviour is less clear. (herts.ac.uk)
Some people with Aicardi syndrome have unusual facial features including a short area between the upper lip and the nose (philtrum), a flat nose with an upturned tip, large ears, and sparse eyebrows . (medlineplus.gov)
Defects1
Severe neuroinflammatory issues are seen in Aicardi-Goutieres Syndrome caused my defects in RNase H2. (nih.gov)
However, this gene has not been identified, and it is unknown how the genetic change that causes Aicardi syndrome results in the various signs and symptoms of this disorder. (medlineplus.gov)
Cases2
We sought to determine the incidence, prevalence, and life expectancy of Aicardi syndrome from 408 cases compiled from multiple international sources. (nih.gov)
Nearly all known cases of Aicardi syndrome are sporadic, which means that they are not passed down through generations and occur in people with no history of the disorder in their family. (medlineplus.gov)
Sweden1
Budd-Chiari syndrome in Sweden: epidemiology, clinical characteristics and survival - an 18-year experience. (nih.gov)
Disease1
He also described several neurodegenerative diseases of childhood and two disease were named after him - Aicardi syndrome and Aicardi-Goutieres syndrome. (wikipedia.org)
Features1
Some people with Aicardi syndrome have unusual facial features including a short area between the upper lip and the nose (philtrum), a flat nose with an upturned tip, large ears, and sparse eyebrows . (medlineplus.gov)