What is DEPDC5 gene?

The DEPDC5 gene provides instructions for making a protein that is one piece of a group of proteins (complex) called GATOR1. This complex is found in cells throughout the body, where it regulates a signaling pathway called the mTOR pathway.

What is the most common known genetic cause of autism?

Autism Spectrum Disorder (ASD) is one of the most prevalent neurodevelopmental disorders, affecting an estimated 1 in 59 children. ASD is highly genetically heterogeneous and may be caused by both inheritable and de novo gene variations.

What is monogenic autism?

Genetic targets in ASD ASD may be divided into conditions driven by a single genetic defect (monogenic ASD) and conditions driven by multiple genetic defects (polygenic ASD). Monogenic ASD conditions often contain a variable cluster of phenotypes which include autism as part of a syndrome [18].

What genetic mutations cause autism?

Usp9x is a master-stabilizer of many key proteins essential for brain development and learning. It is notable that severe mutations in ankyrin-G are also known to cause intellectual disability and autism.

Does autism worsen with age?

Goldsmiths, University of London researchers working with adults recently diagnosed with autism spectrum disorder have found high rates of depression, low employment, and an apparent worsening of some ASD traits as people age.

Which parent is responsible for autism?

Researchers have assumed that mothers are more likely to pass on autism-promoting gene variants. That’s because the rate of autism in women is much lower than that in men, and it is thought that women can carry the same genetic risk factors without having any signs of autism.

What triggers an autistic person?

Among those with autism, common triggers include disturbing breaks in routine, lack of sleep, jarring “sensory stimuli” (noises, lights, or smells) or even undiagnosed mental health problems. Clearly, it’s important to look beyond the behavior itself to identify the underlying cause.

Does autism cause anger?

Autistic people have a lot to contend with. The difficulties they experience in everyday life – due, for example, to communication and sensory differences – may lead to feelings of frustration and anger.

What triggers autism meltdowns?

Meltdown and shutdown are usually caused by high levels of stress, to a point where the person with autism in no longer able to cope. These can be triggered by any situation, and can be the result of an accumulation of stressful events over a period of time (hours, days or even weeks).

Is autism inherited from the mother or father?

The team found that mothers passed only half of their structural variants on to their autistic children—a frequency that would be expected by chance alone—suggesting that variants inherited from mothers were not associated with autism. But surprisingly, fathers did pass on substantially more than 50% of their variants.

What are the clinical effects of DEPDC5 mutations?

The clinical phenotype in patients with DEPDC5 mutations is rather benign insofar as most of them are of normal intellect without any detectable structural brain lesions. However, autism spectrum disorder or intellectual disability has been described in some affected individuals ( Dibbens et al., 2013; Ishida et al., 2013; Martin et al., 2013 ).

What are the signs of autism spectrum disorder?

Difficulty understanding the “non-written” rules of language, resistance to change, and reluctance to engage socially are signs of autism spectrum disorder. Some children and adolescents reach adulthood without facing these struggles.

What are the clinical characteristics of depdc5-related epilepsy?

Clinical characteristics: DEPDC5- related epilepsy encompasses a range of epilepsy syndromes, almost all of which are characterized by focal seizures, with seizure onset in a discrete area of the brain.

Can a PDD NOS diagnosis be used for autism?

As such, PDD-NOS became the diagnosis applied to children or adults who are on the autism spectrum but do not fully meet the criteria for another ASD such as autistic disorder (sometimes called “classic” autism) or Asperger syndrome. Like all forms of autism, PDD-NOS can occur in conjunction with a wide spectrum of intellectual ability.