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Sotos syndrome | ||||||||
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Sotos syndrome (cerebral gigantism) is a rare genetic disorder characterized by excessive physical growth during the first 2 to 3 years of life. People with Sotos syndrome tend to have unique facial features, speech disorders, intellectual disability with developmental delay, motor skill challenges, behavior challenges, and medical issues.
Sotos syndrome involves a difference in the NSD1 gene and affects around 1 in 14,000 births. Around 95% of cases appear de novo (sporadically). If a parent has Sotos syndrome, the child has a 50% chance of inheriting it.[1]
The life expectancy of people with Sotos syndrome is average.[1]
It is similar to Weaver syndrome.
It was named after the US paediatrician Juan Fernandez Sotos who first reported it in 1927, having worked with four others characterising the condition. So including the apostrophe as on Soto's syndrome is not correct.
Epidemiology[]
Incidence is approximately 1 in 14,000 births.[citation needed]
Signs and symptoms[]
Sotos syndrome is a complex condition. Common traits include:[1][2]
Physical[]
- Large birth size
- Advanced bone age
- Rapid growth and tall stature in childhood, which slows later and results in typical stature by adulthood
- Large head (macrocephaly) that is especially long
- Unique facial features: down-slanting widely-spaced eyes, high forehead, and pointed chin
- Large hands and feet
- Clumsiness
- Awkward gait
- Scoliosis
- Seizures
- Heart or kidney problems
- Hearing impairment
- Visual impairment
Developmental, cognitive, and behavioral[]
- Autism[3]
- Attention deficit hyperactivity disorder (ADHD)
- Intellectual disability, typically mild
- Developmental delay (delayed motor, cognitive, and social development)
- Hypotonia (low muscle tone)
- Speech disorders
Mental health and behavior[]
- Anxiety and phobias
- Obsessions and compulsions
- Impulsivity
- Tantrums
- Aggressiveness or irritability
However, many people with Sotos syndrome will not experience every trait on this list.
Infants may experience jaundice, feeding difficulties, and hypotonia (low muscle tone).[2] As they grow, milestones like sitting and crawling may be delayed due to hypotonia.
Problems with speech and language are common. Affected individuals often have problems with sound production, stuttering, and a monotone voice.
Cancer risk may be slightly higher than average. A few people with Sotos syndrome have developed cancer, most often in childhood, but no single form of cancer has been associated with this condition. It remains uncertain whether Sotos syndrome increases the risk of specific types of cancer.
Genetics[]
Mutations in the NSD1 gene cause Sotos syndrome.[4] The NSD1 gene provides instructions for making a protein that is involved in normal growth and development. The function of this protein is unknown, however. In the Japanese population, the most common genetic change leading to Sotos syndrome deletes genetic material from the region of chromosome 5 containing the NSD1 gene. In other populations, small mutations within the NSD1 gene occur more frequently. Genetic changes involving the NSD1 gene prevent one copy of the gene from producing any functional protein. It is unclear how a reduced amount of this protein during development leads to learning disabilities, overgrowth, and the other features of Sotos syndrome.
Around 95% of Sotos syndrome cases come from families with no family history of Sotos syndrome. If a parent has Sotos syndrome, the child has a 50% chance of inheriting it.[1] It has an autosomal dominant pattern of inheritance.
Sotos syndrome 3 is a rare form of Sotos syndrome. It includes intellectual disability and different brain structure without other Sotos syndrome traits. This comes from a variation in the APC2 gene (which is a downstream gene of NSD1, meaning that changes in NSD1 affect APC2) without NSD1 variations. It is recessive.[2]
Treatment[]
Treatment for Sotos syndrome involves support for specific difficulties they experience.[1] In school years, children with Sotos syndrome may attend special education.
Therapy may help with skills. Speech therapy can improve communication skills. Occupational therapy may help with skill acquisition and management of cognitive struggles. Physical therapy may be useful as well.
Medication may help with conditions like ADHD and anxiety.
Hearing aids and glasses may help with hearing and vision. Scoliosis management may include a back brace and/or surgery.
Prognosis[]
Sotos syndrome is not a life-threatening disorder and patients may have a typical life expectancy. Some struggles associated with Sotos syndrome ease as rapid growth slows down.[1] Developmental delays may improve in the school-age years; however, coordination problems may persist into adulthood.
See also[]
- Anxiety disorders
- Attention-deficit hyperactivity disorder
- Autism
- Hypotonia
- Mild intellectual disability
- Scoliosis
- Seizures
- Stimming
References[]
- ↑ 1.0 1.1 1.2 1.3 1.4 1.5 Sotos Syndrome, Cleveland Clinic
- ↑ 2.0 2.1 2.2 Sotos Syndrome, National Organization for Rare Disorders
- ↑ Lane C, Milne E, Freeth M. Characteristics of Autism Spectrum Disorder in Sotos Syndrome. J Autism Dev Disord. 2017 Jan;47(1):135-143. doi: 10.1007/s10803-016-2941-z. PMID: 27771801; PMCID: PMC5222916.
- ↑ Melchior L, Schwartz M, Duno M (March 2005). dHPLC screening of the NSD1 gene identifies nine novel mutations--summary of the first 100 Sotos syndrome mutations. Ann. Hum. Genet. 69 (Pt 2): 222–6. DOI: 10.1046/j.1529-8817.2004.00150.x. PMID: 15720303.
http://www.childgrowthfoundation.org/Default.aspx?page=Conditionssotos
External links[]
- Sotos Syndrome Support Association
- Information related to orphan diseases and orphan drugs - site is in French
- GeneTests at NIH/UW sotos
Template:Phakomatoses and other congenital malformations not elsewhere classified
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