Is Sotos syndrome a disability?
Sotos syndrome is a genetic disorder, described in 1964, characterized by excessive growth before and after birth, a large, elongated (dolichocephalic) head, distinctive facial configuration, and a non-progressive neurological disorder with intellectual disability.
Can Sotos syndrome be cured?
Sotos syndrome is a lifelong condition and there is no cure. The condition often times does not have any life-threatening side effects and the outlook for a child diagnosed with Sotos syndrome is positive, with a normal life expectancy.
Is Sotos syndrome fatal?
Sotos syndrome is not a life-threatening disorder and patients may have a normal life expectancy. The initial abnormalities of Sotos syndrome usually resolve as the growth rate becomes normal after the first few years of life.
Is Sotos syndrome a form of autism?
People with Sotos syndrome often have intellectual disability, and most also have behavioral problems. Frequent behavioral issues include autism spectrum disorder, attention-deficit/hyperactivity disorder (ADHD), phobias, obsessions and compulsions, tantrums, and impulsive behaviors.
Can Sotos syndrome be detected before birth?
If there is an affected member of the family, a mutation in a proband should be identified before prenatal diagnosis is performed. However, more than 95% of cases of Sotos syndrome are secondary to a de novo mutation, so this is only possible in a very small percentage of cases.
How can I help my child with Soto syndrome?
Treatment options for Sotos syndrome
- behavioral or occupational therapy.
- speech therapy.
- counseling.
- medications to manage ADHD, irritability, or aggressiveness.
- hearing aids for hearing loss.
- glasses to correct vision problems.
What is reverse Sotos syndrome?
Sotos syndrome is a disorder of childhood overgrowth caused by NSD1 deletions. Duplications involving NSD1 cause a ‘reverse Sotos syndrome’ phenotype characterised by short stature and microcephaly. The contrasting phenotypes of NSD1 deletions and duplications suggest a dose effect.
What are Soto seizures?
The seizure phenotype in Sotos syndrome most commonly involves staring spells, afebrile tonic‐clonic seizures or febrile convulsions; however, other seizure types may occur. Seizures are typically well‐controlled with medication, but drug‐resistant epilepsy occurs in a minority.
What is the prevalence of Sotos syndrome?
Abstract Sotos syndrome is an overgrowth condition characterized by cardinal features including excessive growth during childhood, macrocephaly, distinctive facial gestalt and various degrees of learning difficulty, and associated with variable minor features. The exact prevalence remains unknown but hundreds of cases have been reported.
Should macrocephaly and facial Gestalt be included in the diagnosis of Sotos syndrome?
Macrocephaly and facial gestalt but not overgrowth and advanced bone age were consistently observed in Sotos syndrome patients. We suggest therefore considering macrocephaly and facial gestalt as mandatory criteria for the diagnosis of Sotos syndrome and overgrowth and advanced bone age as minor criteria.
Is there a pattern of intelligence in individuals with Sotos syndrome?
The individual components, or subscales, that comprise general intelligence scores could be investigated in individuals with Sotos syndrome in order to establish whether there is a consistent pattern of ability and/or disability in individuals with Sotos syndrome.
What is Sotos syndrome (cerebral gigantism)?
Sotos syndrome, or Cerebral Gigantism is recognised as the syndromic association of mental retardation, macrocephaly and prenatal onset of accelerated growth. A kindred has been investigated in which the father and 4 affected offspring all have the Sotos syndrome.