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What is Sotos disease?
Sotos syndrome is a rare genetic disease first described in 1964 by Prof. Juan Sotos, who gave it its name. The latter discovered the pathology from a study conducted on five patients with pre- and post-natal gigantism, a face with particular features, advanced bone age and developmental delay.
A genetic origin
Le NSD1 gene, involved in this syndrome, was only identified in 2002. Until then, only clinical aspects allowed the diagnosis to be made. Abnormalities of this NSD1 gene (located on chromosome 5q35) are responsible for more than 75% of cases of Sotos syndrome. Screening for this gene now helps to make the diagnosis., in addition to the observation of clinical symptoms.
A priori, in the vast majority of cases, this genetic disease is linked to a mutation “de novo”, That is to say thatit occurs without any ascendant being himself affected or carrying the genetic abnormality. But a few cases of family transmission have been reported. The transmission is then autosomal-dominant, that is to say it is transmitted by one of the parents, the father or the mother, who is himself the carrier of the genetic anomaly.
Sotos syndrome: symptoms
Although there are prenatal signs (including a large head circumference) of Sotos syndrome, it is rarely diagnosed during pregnancy.
But from birth, an excessive head size and perimeter foreshadows the presence of this syndrome. Children with Sotos syndrome are often born with long limbs (hands and feet), but the gigantism, important during the first year of life, then stabilizes. Children with this rare disease are often tall and fat from birth (or even in utero), with rapid growth which tends to normalize over the years, especially in girls due to precocious puberty.
A “gigantism” sometimes visible on the face
The baby with Sotos syndrome may also have advanced bone age (over 2 years in 75% of cases), low muscle tone (hypotonia), neonatal jaundice, food intake difficulties (especially due to insufficient sucking capacity) and characteristic features of the face (narrow / elongated, pointed chin, wide forehead, thin and sparse hair…). Variable delays in cognitive and motor development are also observed. People with the condition may also exhibit behavioral characteristics common to autism spectrum disorders (autism). Note that cardiac malformations (persistence of inter-auricular / inter-ventricular communication), urogenital (vesicoureteral reflux, cryptorchidism, etc.) and orthopedic (scoliosis, flat feet, etc.) may be associated.
At the cerebral level, MRI often shows abnormalities in the cerebrospinal fluid (accumulations at the level of the arachnoid, one of the 3 meninges surrounding the central nervous system), abnormalities of the lateral ventricles (cavities containing the cephalo fluid – spinal), or anomalies of the corpus callosum (cerebral area ensuring the transmission of information between the two hemispheres).
Sotos syndrome: consequences and possible complications
In children with Sotos syndrome, psychomotor retardation is common, but the level of it is quite variable from one child to another. This psychomotor delay can include delayed walking and speech acquisition (related in part to hypotonia), fine motor disturbances, and coordination problems that may persist into adulthood.
Children with Sotos syndrome have a variable overall intellectual level, which can range from a normal intelligence quotient (IQ) to severe mental impairment. Some people with this syndrome will therefore manage to live quite normally, while others will need specialized care for life.
Note that Sotos syndrome is sometimes associated with sleep and behavior disorders, including autism spectrum disorders, obsessive-compulsive disorder (OCD) or attention disorder with or without hyperactivity (ADHD).
Sotos syndrome: what treatment and what care in children?
During the neonatal period, that is to say shortly after birth, the management is above all symptomatic. It includes, for example, phototherapy in the event of jaundice of the newborn (or jaundice), the treatment of food intake difficulties and possible gastroesophageal reflux disease (GERD) … Pediatric monitoring will be particularly important in the first year life of the infant with Sotos syndrome, in particular to monitor these neonatal complications, quickly treat a scoliosis-type malformation or seizures.
Subsequently, from early childhood, the child with Sotos syndrome will require multidisciplinary care, as often in the case of pathologies affecting psychomotricity.
The child will thus be followed by several specialists such asa geneticist, a speech therapist, a physiotherapist, a psychomotor therapist, etc.
The associations agree that the implementation of an adapted educational and psychological program is essential for the overall development of affected children. To do well, the stimulation of the child must take place at the motor level, but also sensory and emotional.
Sotos syndrome and schooling: often necessary support
The education of children with Sotos syndrome is variable and depends on the way in which this pathology affects the psychomotor level.
But many affected children can follow a traditional schooling, possibly with some help and accommodation, in particular the presence of a support person (accompanying persons of disabled pupils or AESH for example). For others, special education may be necessary. They may need long-term coaching.
That said, “Awakening“, Association of Sotos syndrome and related disorders, indicates that”people with Sotos syndrome each have a very high capacity for progression ” et “are sometimes surprising in unexpected acquisitions“. “Sotos syndrome is a positive diagnosis that nevertheless suggests a hopeful future. Some young adults achieve satisfactory independence and can hope for a classic life.”, Concludes the association in its explanatory brochure.
আমার মেয়ে ১বছর ৫মাস,তার Clinical Exom Sequence test এ Sotos Sindom ধরা পরে।