Based on the genetic mutation that causes the condition and the symptoms reported, Rett syndrome is classified into classic and atypical types. About 32% of patients have the atypical form of the disease in which some symptoms are present, but they
Based on the genetic mutation that causes the condition and the symptoms reported, Rett syndrome is classified into classic and atypical types. About 32% of patients have the atypical form of the disease in which some symptoms are present, but they do not fulfill all the diagnostic criteria.
Forme fruste variant is one type of atypical Rett syndrome. It is an incomplete and milder manifestation of Rett syndrome. Symptom onset is reported in early childhood, and the progression is slower and more prolonged compared to classic Rett syndrome.
The early clinical manifestations of the forme fruste variant vary considerably but usually are mild. Most affected individuals retain the use of their hands. Other motor skills usually are preserved for an extended time and tend to regress much later in the course of the disease.
In one case study, the patient lost learned speech within the first two years of birth but regained it as she grew older. At age 17, she maintained motor skills but had mild mental retardation and apraxia (the inability to perform familiar day-to-day movements).
According to research, the head circumference of forme fruste Rett syndrome patients is wi